format-version: 1.2
data-version: hp/releases/2019-04-15
saved-by: Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris Mungall, Melissa Haendel, Nicole Vasilevsky, Monarch Initiative, et al.
subsetdef: hposlim_core "Core clinical terminology"
subsetdef: secondary_consequence "Consequence of a disorder in another organ system."
synonymtypedef: HP:0031859 "obsolete"
synonymtypedef: HP:0045076 "UK spelling"
synonymtypedef: HP:0045077 "abbreviation"
synonymtypedef: HP:0045078 "plural form"
synonymtypedef: layperson "layperson term"
default-namespace: human_phenotype
remark: Please see license of HPO at http://www.human-phenotype-ontology.org
ontology: hp.obo
property_value: http://purl.org/dc/elements/1.1/creator "Human Phenotype Ontology Consortium" xsd:string
property_value: http://purl.org/dc/elements/1.1/creator "Monarch Initiative" xsd:string
property_value: http://purl.org/dc/elements/1.1/creator "Peter Robinson" xsd:string
property_value: http://purl.org/dc/elements/1.1/creator "Sebastian Köhler" xsd:string
property_value: http://purl.org/dc/elements/1.1/license http://www.human-phenotype-ontology.org xsd:string
property_value: http://purl.org/dc/elements/1.1/rights "Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative" xsd:string
property_value: http://purl.org/dc/elements/1.1/subject "Phenotypic abnormalities encountered in human disease" xsd:string
logical-definition-view-relation: has_part

[Term]
id: HP:0000001
name: All
comment: Root of all terms in the Human Phenotype Ontology.
xref: UMLS:C0444868

[Term]
id: HP:0000002
name: Abnormality of body height
def: "Deviation from the norm of height with respect to that which is expected according to age and gender norms." [HPO:probinson]
synonym: "Abnormality of body height" EXACT layperson []
xref: UMLS:C4025901
is_a: HP:0001507 ! Growth abnormality
created_by: peter
creation_date: 2008-02-27T02:20:00Z

[Term]
id: HP:0000003
name: Multicystic kidney dysplasia
alt_id: HP:0004715
def: "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators]
comment: Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound.
synonym: "Multicystic dysplastic kidney" EXACT []
synonym: "Multicystic kidneys" EXACT []
synonym: "Multicystic renal dysplasia" EXACT []
xref: MSH:D021782
xref: SNOMEDCT_US:204962002
xref: SNOMEDCT_US:82525005
xref: UMLS:C3714581
is_a: HP:0000107 ! Renal cyst

[Term]
id: HP:0000005
name: Mode of inheritance
alt_id: HP:0001453
alt_id: HP:0001461
def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [HPO:probinson]
synonym: "Inheritance" EXACT []
xref: UMLS:C1708511
is_a: HP:0000001 ! All

[Term]
id: HP:0000006
name: Autosomal dominant inheritance
alt_id: HP:0001415
alt_id: HP:0001447
alt_id: HP:0001448
alt_id: HP:0001451
alt_id: HP:0001455
alt_id: HP:0001456
alt_id: HP:0001463
def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
synonym: "Autosomal dominant" EXACT []
synonym: "Autosomal dominant form" RELATED [HPO:skoehler]
synonym: "Autosomal dominant type" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:263681008
xref: UMLS:C0443147
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0000007
name: Autosomal recessive inheritance
alt_id: HP:0001416
alt_id: HP:0001526
def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson]
synonym: "Autosomal recessive" EXACT []
synonym: "Autosomal recessive form" RELATED [HPO:skoehler]
synonym: "Autosomal recessive predisposition" RELATED []
xref: SNOMEDCT_US:258211005
xref: UMLS:C0441748
xref: UMLS:C4020899
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0000008
name: Abnormality of female internal genitalia
def: "An abnormality of the female internal genitalia." [HPO:probinson]
xref: UMLS:C4025900
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0010460 ! Abnormality of the female genitalia

[Term]
id: HP:0000009
name: Functional abnormality of the bladder
alt_id: HP:0004424
alt_id: HP:0008731
def: "Dysfunction of the urinary bladder." [HPO:probinson]
synonym: "Poor bladder function" EXACT []
xref: UMLS:C3806583
is_a: HP:0000014 ! Abnormality of the bladder

[Term]
id: HP:0000010
name: Recurrent urinary tract infections
alt_id: HP:0000094
def: "Repeated infections of the urinary tract." [HPO:probinson]
comment: The urinary tract comprises the kidneys, ureters, a bladder, and a urethra.
synonym: "Frequent urinary tract infections" EXACT layperson []
synonym: "Recurrent UTIs" EXACT HP:0045077 []
synonym: "Urinary infection" EXACT layperson []
synonym: "Urinary tract infection" EXACT layperson []
synonym: "Urinary tract infections" EXACT layperson []
synonym: "Urinary tract infections, recurrent" EXACT layperson [HPO:skoehler]
xref: SNOMEDCT_US:197927001
xref: UMLS:C0262655
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0011277 ! Abnormality of the urinary system physiology

[Term]
id: HP:0000011
name: Neurogenic bladder
def: "A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention." [HPO:probinson, PMID:18095004, PMID:22400020]
comment: Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause.
synonym: "Lack of bladder control due to nervous system injury" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D001750
xref: SNOMEDCT_US:397732007
xref: SNOMEDCT_US:398064005
xref: UMLS:C0005697
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000012
name: Urinary urgency
def: "Urge incontinence is the strong, sudden need to urinate." [HPO:probinson, pmid:12559262]
comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity.
synonym: "Overactive bladder" EXACT layperson [ORCID:0000-0002-0736-9199]
synonym: "Overactive bladder syndrome" RELATED []
synonym: "Urgency frequency syndrome" RELATED []
synonym: "Urinary urgency" EXACT layperson []
xref: SNOMEDCT_US:75088002
xref: UMLS:C0085606
xref: UMLS:C3544092
xref: UMLS:C4020898
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000013
name: Hypoplasia of the uterus
alt_id: HP:0001154
alt_id: HP:0008637
def: "Underdevelopment of the uterus." [HPO:probinson]
synonym: "Hypoplastic uterus" EXACT []
synonym: "Rudimentary uterus" EXACT []
synonym: "Small uterus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped uterus" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:35850006
xref: UMLS:C0266399
is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus

[Term]
id: HP:0000014
name: Abnormality of the bladder
def: "An abnormality of the urinary bladder." [HPO:probinson]
xref: UMLS:C0149632
is_a: HP:0010936 ! Abnormality of the lower urinary tract

[Term]
id: HP:0000015
name: Bladder diverticulum
def: "Diverticulum (sac or pouch) in the wall of the urinary bladder." [HPO:probinson]
synonym: "Bladder diverticula" EXACT [HPO:skoehler]
xref: MSH:C562406
xref: SNOMEDCT_US:197866008
xref: UMLS:C0156273
is_a: HP:0025487 ! Abnormality of bladder morphology

[Term]
id: HP:0000016
name: Urinary retention
def: "Inability to completely empty the urinary bladder during the process of urination." [HPO:probinson]
comment: Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic.
synonym: "Increased post-void residual urine volume" EXACT []
xref: MSH:D016055
xref: SNOMEDCT_US:130951007
xref: SNOMEDCT_US:267064002
xref: SNOMEDCT_US:449491000124101
xref: UMLS:C0080274
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000017
name: Nocturia
def: "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [HPO:sdoelken]
comment: Often occuring as a result of heart insufficiency.
synonym: "Nycturia" EXACT [HPO:sdoelken]
xref: MSH:D053158
xref: SNOMEDCT_US:139394000
xref: UMLS:C0028734
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000019
name: Urinary hesitancy
def: "Difficulty in beginning the process of urination." [HPO:probinson]
synonym: "Difficulty with flow" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:5972002
xref: UMLS:C0152032
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000020
name: Urinary incontinence
alt_id: HP:0006942
alt_id: HP:0008681
def: "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken, pmid:12559262]
comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine.
synonym: "Bladder incontinence" EXACT []
synonym: "Loss of bladder control" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D014549
xref: SNOMEDCT_US:165232002
xref: UMLS:C0042024
is_a: HP:0000009 ! Functional abnormality of the bladder
is_a: HP:0031064 ! Impaired continence

[Term]
id: HP:0000021
name: Megacystis
alt_id: HP:0002838
def: "Dilatation of the bladder postnatally." [HPO:probinson]
xref: MSH:C536139
xref: UMLS:C1855311
is_a: HP:0010955 ! Dilatation of the bladder

[Term]
id: HP:0000022
name: Abnormality of male internal genitalia
def: "An abnormality of the male internal genitalia." [HPO:probinson]
comment: The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate.
xref: UMLS:C4025899
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0010461 ! Abnormality of the male genitalia

[Term]
id: HP:0000023
name: Inguinal hernia
def: "Protrusion of the contents of the abdominal cavity through the inguinal canal." [HPO:probinson]
comment: Inguinal hernia appears as a bulge in the groin.
subset: hposlim_core
xref: MEDDRA:10022016 "Inguinal hernia"
xref: MSH:D006552
xref: SNOMEDCT_US:396232000
xref: UMLS:C0019294
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0000024
name: Prostatitis
def: "The presence of inflammation of the prostate." [HPO:probinson]
synonym: "Inflammation of the prostate" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D011472
xref: SNOMEDCT_US:9713002
xref: UMLS:C0033581
is_a: HP:0008775 ! Abnormality of the prostate
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000025
name: Functional abnormality of male internal genitalia
xref: UMLS:C4025898
is_a: HP:0012874 ! Abnormal male reproductive system physiology

[Term]
id: HP:0000026
name: Male hypogonadism
alt_id: HP:0008649
def: "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis." [HPO:probinson]
synonym: "Decreased function of male gonad" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D005058
xref: SNOMEDCT_US:48723006
xref: UMLS:C0151721
is_a: HP:0000025 ! Functional abnormality of male internal genitalia
is_a: HP:0000135 ! Hypogonadism

[Term]
id: HP:0000027
name: Azoospermia
def: "Absence of any measurable level of sperm in his semen." [HPO:probinson, pmid:20514278]
synonym: "Absent sperm in semen" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D053713
xref: SNOMEDCT_US:425558002
xref: SNOMEDCT_US:48188009
xref: UMLS:C0004509
is_a: HP:0008669 ! Abnormal spermatogenesis

[Term]
id: HP:0000028
name: Cryptorchidism
alt_id: HP:0000797
def: "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson, pmid:23650202]
comment: The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment.
synonym: "Cryptorchism" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Undescended testes" EXACT layperson []
synonym: "Undescended testis" EXACT layperson []
xref: Fyler:4493
xref: MSH:D003456
xref: SNOMEDCT_US:204878001
xref: UMLS:C0010417
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0000029
name: Testicular atrophy
def: "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [HPO:probinson]
synonym: "Testicular degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:17585008
xref: UMLS:C0156312
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0000030
name: Testicular gonadoblastoma
def: "The presence of a gonadoblastoma of the testis." [HPO:probinson]
synonym: "Gonadoblastoma, male" RELATED []
xref: NCIT:C3754
xref: UMLS:C1515283
is_a: HP:0000150 ! Gonadoblastoma
is_a: HP:0010788 ! Testicular neoplasm

[Term]
id: HP:0000031
name: Epididymitis
def: "The presence of inflammation of the epididymis." [HPO:probinson]
xref: MSH:D004823
xref: SNOMEDCT_US:31070006
xref: UMLS:C0014534
is_a: HP:0009714 ! Abnormality of the epididymis
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000032
name: Abnormality of male external genitalia
def: "An abnormality of male external genitalia." [HPO:probinson]
xref: UMLS:C4025897
is_a: HP:0000811 ! Abnormal external genitalia
is_a: HP:0010461 ! Abnormality of the male genitalia

[Term]
id: HP:0000033
name: Ambiguous genitalia, male
def: "Ambiguous genitalia in an individual with XY genetic gender." [HPO:probinson]
synonym: "Ambiguous genitalia in males" EXACT layperson []
xref: UMLS:C4021823
is_a: HP:0000032 ! Abnormality of male external genitalia
is_a: HP:0000062 ! Ambiguous genitalia

[Term]
id: HP:0000034
name: Hydrocele testis
def: "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [HPO:probinson]
synonym: "Hydrocele" BROAD []
synonym: "Testicular hydrocele" EXACT []
xref: MSH:D006848
xref: SNOMEDCT_US:26614003
xref: SNOMEDCT_US:386152007
xref: SNOMEDCT_US:55434001
xref: UMLS:C1720771
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0000035
name: Abnormal testis morphology
def: "An anomaly of the testicle (the male gonad)." [HPO:probinson]
synonym: "Abnormality of the testis" EXACT layperson []
synonym: "Anomaly of the testes" EXACT []
xref: SNOMEDCT_US:55631001
xref: UMLS:C0266423
is_a: HP:0000032 ! Abnormality of male external genitalia

[Term]
id: HP:0000036
name: Abnormality of the penis
synonym: "Abnormality of the penis" EXACT layperson []
xref: UMLS:C4025896
is_a: HP:0000032 ! Abnormality of male external genitalia

[Term]
id: HP:0000037
name: Male pseudohermaphroditism
def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators]
xref: MSH:D058490
xref: SNOMEDCT_US:111332007
xref: UMLS:C0238395
is_a: HP:0000032 ! Abnormality of male external genitalia

[Term]
id: HP:0000039
name: Epispadias
def: "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:probinson, pmid:23650202]
comment: Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately.
xref: SNOMEDCT_US:406477003
xref: UMLS:C0563449
is_a: HP:0100627 ! Displacement of the urethral meatus

[Term]
id: HP:0000040
name: Long penis
def: "Penile length more than 2 SD above the mean for age." []
comment: Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans.
synonym: "Enlarged penis" EXACT layperson []
synonym: "Long penis" EXACT layperson []
xref: SNOMEDCT_US:88673001
xref: UMLS:C0269011
is_a: HP:0000036 ! Abnormality of the penis

[Term]
id: HP:0000041
name: Chordee
def: "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees." [HPO:probinson, pmid:23650202]
comment: The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately.
xref: SNOMEDCT_US:4287008
xref: UMLS:C0221182
is_a: HP:0000036 ! Abnormality of the penis

[Term]
id: HP:0000042
name: Absent external genitalia
def: "Lack of external genitalia in a male or female individual." [HPO:probinson]
synonym: "Absent external genitalia" EXACT layperson []
xref: UMLS:C1848869
is_a: HP:0000811 ! Abnormal external genitalia

[Term]
id: HP:0000044
name: Hypogonadotrophic hypogonadism
alt_id: HP:0003335
alt_id: HP:0008224
def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:probinson]
synonym: "Hypogonadism, hypogonadotropic" EXACT []
synonym: "Isolated hypogonadotropic hypogonadism" RELATED []
synonym: "Low gonadotropins (secondary hypogonadism)" EXACT []
xref: MSH:D007006
xref: SNOMEDCT_US:33927004
xref: UMLS:C0271623
xref: UMLS:C3489396
is_a: HP:0000135 ! Hypogonadism

[Term]
id: HP:0000045
name: Abnormality of the scrotum
xref: UMLS:C4025895
is_a: HP:0000032 ! Abnormality of male external genitalia

[Term]
id: HP:0000046
name: Scrotal hypoplasia
synonym: "Hypoplastic scrotum" EXACT []
synonym: "Smaller than typical growth of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:204912007
xref: UMLS:C0431659
is_a: HP:0000045 ! Abnormality of the scrotum
is_a: HP:0000050 ! Hypoplastic male external genitalia

[Term]
id: HP:0000047
name: Hypospadias
def: "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448]
synonym: "Hypospadia" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:4504
xref: SNOMEDCT_US:204888000
xref: UMLS:C1691215
is_a: HP:0100627 ! Displacement of the urethral meatus

[Term]
id: HP:0000048
name: Bifid scrotum
def: "Midline indentation or cleft of the scrotum." [HPO:probinson, pmid:23650202]
comment: A testis may or may not be present in each half of the scrotum.
synonym: "Cleft of scrotum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Scrotal cleft" EXACT []
xref: SNOMEDCT_US:236780002
xref: UMLS:C0341787
is_a: HP:0000045 ! Abnormality of the scrotum

[Term]
id: HP:0000049
name: Shawl scrotum
def: "Superior margin of the scrotum superior to the base of the penis." [HPO:probinson, pmid:23650202]
comment: A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead.
synonym: "Overriding scrotum" EXACT []
synonym: "Scrotum surrounds penis" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1858539
is_a: HP:0000045 ! Abnormality of the scrotum

[Term]
id: HP:0000050
name: Hypoplastic male external genitalia
alt_id: HP:0008710
alt_id: HP:0008721
def: "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [HPO:probinson]
synonym: "Hypoplastic male genitalia" EXACT []
synonym: "Small male external genitalia" EXACT layperson []
synonym: "Underdeveloped male genitalia" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1852534
is_a: HP:0000032 ! Abnormality of male external genitalia
is_a: HP:0003241 ! External genital hypoplasia

[Term]
id: HP:0000051
name: Perineal hypospadias
def: "Hypospadias with location of the urethral meatus in the perineal region." [HPO:probinson, pmid:8097257]
xref: SNOMEDCT_US:204890004
xref: UMLS:C0452148
is_a: HP:0000047 ! Hypospadias

[Term]
id: HP:0000052
name: Urethral atresia, male
def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [HPO:probinson]
xref: UMLS:C4025894
is_a: HP:0000068 ! Urethral atresia

[Term]
id: HP:0000053
name: Macroorchidism
def: "The presence of abnormally large testes." [HPO:probinson]
synonym: "Large testicles" EXACT []
synonym: "Large testis" EXACT layperson []
xref: UMLS:C1263023
is_a: HP:0045058 ! Abnormality of the testis size

[Term]
id: HP:0000054
name: Micropenis
alt_id: HP:0000038
def: "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, pmid:15102623]
synonym: "Short penis" EXACT layperson []
synonym: "Small penis" EXACT layperson []
xref: SNOMEDCT_US:34911001
xref: UMLS:C0266435
is_a: HP:0008736 ! Hypoplasia of penis

[Term]
id: HP:0000055
name: Abnormality of female external genitalia
def: "An abnormality of the female external genitalia." [HPO:probinson]
synonym: "Abnormal female external genitalia" EXACT layperson [HPO:skoehler]
xref: UMLS:C4021822
is_a: HP:0000811 ! Abnormal external genitalia
is_a: HP:0010460 ! Abnormality of the female genitalia

[Term]
id: HP:0000056
name: Abnormality of the clitoris
def: "An abnormality of the clitoris." [HPO:probinson]
synonym: "Abnormality of the clit" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025893
is_a: HP:0000055 ! Abnormality of female external genitalia

[Term]
id: HP:0000057
name: obsolete Clitoromegaly
is_obsolete: true
replaced_by: HP:0008665

[Term]
id: HP:0000058
name: Abnormality of the labia
def: "An anomaly of the labia, the externally visible portions of the vulva." [HPO:probinson]
xref: UMLS:C4025892
is_a: HP:0000055 ! Abnormality of female external genitalia

[Term]
id: HP:0000059
name: Hypoplastic labia majora
def: "Undergrowth of the outer labia." [HPO:probinson]
synonym: "Hypoplasia of labia majora" EXACT []
synonym: "Small labia majora" EXACT layperson []
synonym: "Underdeveloped vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:289469003
xref: UMLS:C0566899
is_a: HP:0000066 ! Labial hypoplasia
is_a: HP:0012881 ! Abnormality of the labia majora

[Term]
id: HP:0000060
name: Clitoral hypoplasia
def: "Developmental hypoplasia of the clitoris." [HPO:probinson]
synonym: "Hypoplastic clitoris" EXACT []
synonym: "Small clitoris" EXACT layperson []
synonym: "Underdeveloped clit" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1844527
is_a: HP:0012815 ! Hypoplastic female external genitalia
is_a: HP:0040255 ! Aplasia/Hypoplasia of the clitoris

[Term]
id: HP:0000061
name: Ambiguous genitalia, female
alt_id: HP:0008690
def: "Ambiguous genitalia in an individual with XX genetic gender." [HPO:probinson]
synonym: "Ambiguous genitalia due to virilization" RELATED []
synonym: "Atypical appearance of female genitals" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1859980
xref: UMLS:C4025891
is_a: HP:0000055 ! Abnormality of female external genitalia
is_a: HP:0000062 ! Ambiguous genitalia

[Term]
id: HP:0000062
name: Ambiguous genitalia
alt_id: HP:0008685
alt_id: HP:0008693
def: "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [HPO:probinson, pmid:15102623]
comment: Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome.
synonym: "Ambiguous external genitalia" EXACT layperson []
synonym: "Ambiguous external genitalia at birth" EXACT layperson []
synonym: "Intersex genitalia" EXACT layperson []
xref: MSH:D012734
xref: SNOMEDCT_US:21321009
xref: UMLS:C0266362
is_a: HP:0000811 ! Abnormal external genitalia

[Term]
id: HP:0000063
name: Fused labia minora
def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators]
synonym: "Fused inner lips" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1837532
is_a: HP:0012880 ! Abnormality of the labia minora

[Term]
id: HP:0000064
name: Hypoplastic labia minora
synonym: "Underdeveloped inner lips" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849295
is_a: HP:0000066 ! Labial hypoplasia
is_a: HP:0012880 ! Abnormality of the labia minora

[Term]
id: HP:0000065
name: Labial hypertrophy
synonym: "Enlargement of the labia" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlargement of the vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:16924008
xref: UMLS:C0404531
is_a: HP:0000058 ! Abnormality of the labia

[Term]
id: HP:0000066
name: Labial hypoplasia
synonym: "Hypoplastic labia" EXACT []
synonym: "Underdeveloped labia" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1850325
is_a: HP:0000058 ! Abnormality of the labia
is_a: HP:0012815 ! Hypoplastic female external genitalia

[Term]
id: HP:0000067
name: Urethral atresia, female
def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [HPO:probinson]
xref: UMLS:C4025890
is_a: HP:0000055 ! Abnormality of female external genitalia
is_a: HP:0000068 ! Urethral atresia

[Term]
id: HP:0000068
name: Urethral atresia
def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [HPO:probinson]
xref: UMLS:C1610065
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0000069
name: Abnormality of the ureter
alt_id: HP:0006001
def: "An abnormality of the ureter." [HPO:probinson]
synonym: "Abnormality of the ureters" EXACT []
synonym: "Ureter issue" EXACT []
synonym: "Ureteral anomalies" EXACT []
xref: UMLS:C1840382
is_a: HP:0010935 ! Abnormality of the upper urinary tract

[Term]
id: HP:0000070
name: Ureterocele
def: "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993]
xref: MSH:D014518
xref: SNOMEDCT_US:12818004
xref: UMLS:C0041960
is_a: HP:0000069 ! Abnormality of the ureter

[Term]
id: HP:0000071
name: Ureteral stenosis
def: "The presence of a stenotic, i.e., constricted ureter." [HPO:probinson]
synonym: "Narrowing of the ureter" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:95574003
xref: UMLS:C0521618
is_a: HP:0006000 ! Ureteral obstruction

[Term]
id: HP:0000072
name: Hydroureter
alt_id: HP:0006003
def: "The distention of the ureter with urine." [HPO:curators]
synonym: "Megaureter" EXACT []
synonym: "Swelling of ureter" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Ureteral dilatation" EXACT []
synonym: "Uroureter" RELATED []
xref: SNOMEDCT_US:69758005
xref: SNOMEDCT_US:95576001
xref: UMLS:C0521620
xref: UMLS:C4020897
is_a: HP:0000069 ! Abnormality of the ureter

[Term]
id: HP:0000073
name: Ureteral duplication
def: "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators]
synonym: "Double ureter" EXACT layperson []
xref: SNOMEDCT_US:49496001
xref: UMLS:C0221365
is_a: HP:0000069 ! Abnormality of the ureter

[Term]
id: HP:0000074
name: Ureteropelvic junction obstruction
def: "Blockage of urine flow from the renal pelvis to the proximal ureter." [Eurenomics:ewuehl]
synonym: "Pelviureteric junction obstruction" EXACT []
xref: MSH:C537373
xref: SNOMEDCT_US:95575002
xref: UMLS:C0521619
is_a: HP:0000071 ! Ureteral stenosis

[Term]
id: HP:0000075
name: Renal duplication
def: "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [HPO:probinson]
synonym: "Extra kidney" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Supernumerary kidney" RELATED []
xref: SNOMEDCT_US:30275001
xref: UMLS:C0266298
is_a: HP:0012210 ! Abnormal renal morphology
created_by: peter
creation_date: 2008-02-25T12:45:00Z

[Term]
id: HP:0000076
name: Vesicoureteral reflux
alt_id: HP:0005998
alt_id: HP:0006002
alt_id: HP:0008667
def: "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:probinson]
synonym: "Ureteral reflux" EXACT []
synonym: "Ureteric reflux" EXACT []
synonym: "Vesicoureteric reflux" EXACT []
xref: Fyler:4510
xref: MSH:D014718
xref: SNOMEDCT_US:197811007
xref: UMLS:C0042580
is_a: HP:0000009 ! Functional abnormality of the bladder
is_a: HP:0000069 ! Abnormality of the ureter

[Term]
id: HP:0000077
name: Abnormality of the kidney
def: "An abnormality of the kidney." [HPO:probinson]
comment: The kidney is a paired organ whose primary function is the production of urine.
synonym: "Abnormal kidney" EXACT layperson []
synonym: "Abnormality of the kidney" EXACT layperson []
synonym: "Renal anomalies" EXACT []
synonym: "Renal anomaly" EXACT []
xref: MSH:D007674
xref: SNOMEDCT_US:44513007
xref: SNOMEDCT_US:90708001
xref: UMLS:C0022658
xref: UMLS:C0266292
is_a: HP:0010935 ! Abnormality of the upper urinary tract

[Term]
id: HP:0000078
name: Abnormality of the genital system
def: "An abnormality of the genital system." [HPO:probinson]
synonym: "Abnormality of the reproductive system" RELATED layperson []
synonym: "Genital abnormalities" EXACT layperson []
synonym: "Genital abnormality" EXACT layperson []
synonym: "Genital anomalies" EXACT layperson []
synonym: "Genital defects" EXACT layperson []
xref: UMLS:C0281966
xref: UMLS:C0744356
is_a: HP:0000119 ! Abnormality of the genitourinary system

[Term]
id: HP:0000079
name: Abnormality of the urinary system
def: "An abnormality of the urinary system." [HPO:probinson]
synonym: "Urinary tract abnormalities" EXACT layperson []
synonym: "Urinary tract abnormality" EXACT layperson []
synonym: "Urinary tract anomalies" EXACT layperson []
xref: UMLS:C4021821
is_a: HP:0000119 ! Abnormality of the genitourinary system

[Term]
id: HP:0000080
name: Abnormality of reproductive system physiology
def: "An abnormal functionality of the genital system." [HPO:probinson]
synonym: "Abnormality of genital physiology" BROAD layperson []
synonym: "Abnormality of reproductive system physiology" EXACT layperson []
synonym: "Genital functional abnormality" EXACT layperson []
xref: UMLS:C4020896
xref: UMLS:C4021820
is_a: HP:0000078 ! Abnormality of the genital system

[Term]
id: HP:0000081
name: Duplicated collecting system
def: "A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice." [HPO:probinson]
synonym: "Double collecting system" EXACT []
synonym: "Double urinary collecting systems on intravenous pyelography" EXACT []
synonym: "Duplex collecting system" EXACT []
synonym: "Duplicated renal collecting system" EXACT []
xref: UMLS:C1858565
is_a: HP:0004742 ! Abnormal renal collecting system morphology
created_by: peter
creation_date: 2008-02-25T12:45:00Z

[Term]
id: HP:0000083
name: Renal insufficiency
alt_id: HP:0000084
alt_id: HP:0004723
def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [HPO:probinson]
synonym: "Renal failure" EXACT layperson []
synonym: "Renal failure in adulthood" EXACT layperson []
xref: MSH:D051437
xref: SNOMEDCT_US:236423003
xref: SNOMEDCT_US:42399005
xref: UMLS:C0035078
xref: UMLS:C1565489
xref: UMLS:C1839604
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0000085
name: Horseshoe kidney
def: "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [HPO:probinson]
synonym: "Fused kidneys" BROAD []
synonym: "Horseshoe kidney" EXACT layperson []
synonym: "Horseshoe kidneys" EXACT layperson []
xref: Fyler:4507
xref: MSH:D000069337
xref: SNOMEDCT_US:41729002
xref: UMLS:C0221353
is_a: HP:0100542 ! Abnormal localization of kidney

[Term]
id: HP:0000086
name: Ectopic kidney
def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [HPO:probinson]
synonym: "Abnormal kidney location" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Displaced kidney" EXACT layperson []
synonym: "Ectopic kidneys" EXACT []
synonym: "Renal ectopia" EXACT []
xref: SNOMEDCT_US:16507009
xref: UMLS:C0238207
is_a: HP:0100542 ! Abnormal localization of kidney

[Term]
id: HP:0000089
name: Renal hypoplasia
alt_id: HP:0001968
alt_id: HP:0004741
alt_id: HP:0008641
def: "Hypoplasia of the kidney." [HPO:probinson]
comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal.
synonym: "Hypoplastic kidney" EXACT []
synonym: "Hypoplastic kidneys" EXACT []
synonym: "Small kidneys" EXACT layperson []
synonym: "Underdeveloped kidneys" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:32659003
xref: UMLS:C0266295
is_a: HP:0008678 ! Renal hypoplasia/aplasia

[Term]
id: HP:0000090
name: Nephronophthisis
alt_id: HP:0004748
def: "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." [Eurenomics:fschaefer]
comment: Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli.
synonym: "juvenile nephronophthisis" EXACT []
xref: SNOMEDCT_US:204958008
xref: UMLS:C0687120
is_a: HP:0100957 ! Abnormal renal medulla morphology

[Term]
id: HP:0000091
name: Abnormal renal tubule morphology
def: "An abnormality of the renal tubules." [HPO:probinson]
comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine.
synonym: "Abnormality of the renal tubule" EXACT []
xref: UMLS:C4021826
is_a: HP:0012575 ! Abnormal nephron morphology

[Term]
id: HP:0000092
name: Tubular atrophy
alt_id: HP:0005578
def: "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules." [HPO:probinson]
synonym: "Renal tubular cell atrophy" EXACT []
xref: UMLS:C1858395
is_a: HP:0000091 ! Abnormal renal tubule morphology

[Term]
id: HP:0000093
name: Proteinuria
def: "Increased levels of protein in the urine." [HPO:probinson]
synonym: "High urine protein levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Protein in urine" EXACT layperson []
xref: MSH:D011507
xref: SNOMEDCT_US:29738008
xref: UMLS:C0033687
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0000095
name: Abnormality of renal glomerulus morphology
def: "A structural anomaly of the glomerulus." [Eurenomics:ewuehl]
xref: UMLS:C4025889
is_a: HP:0012575 ! Abnormal nephron morphology
is_a: HP:0031263 ! Abnormal renal corpuscle morphology

[Term]
id: HP:0000096
name: Glomerulosclerosis
alt_id: HP:0030761
def: "Accumulation of scar tissue within the glomerulus." [Eurenomics:fschaefer]
synonym: "Renal glomerular fibrosis" BROAD []
xref: SNOMEDCT_US:197661001
xref: SNOMEDCT_US:82646005
xref: UMLS:C0178664
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology

[Term]
id: HP:0000097
name: Focal segmental glomerulosclerosis
alt_id: HP:0004747
def: "Segmental accumulation of scar tissue in individual (but not all) glomeruli." [Eurenomics:fschaefer]
synonym: "Focal and segmental glomerular sclerosis" EXACT []
synonym: "Focal and segmental glomerulosclerosis" EXACT []
synonym: "focal glomerulosclerosis" EXACT []
xref: MSH:D005923
xref: SNOMEDCT_US:236403004
xref: SNOMEDCT_US:25821008
xref: UMLS:C0017668
is_a: HP:0000096 ! Glomerulosclerosis

[Term]
id: HP:0000098
name: Tall stature
alt_id: HP:0001527
alt_id: HP:0003515
alt_id: HP:0003516
def: "A height above that which is expected according to age and gender norms." [HPO:probinson]
synonym: "Accelerated linear growth" EXACT []
synonym: "Increased body height" EXACT layperson []
synonym: "Increased linear growth" EXACT []
synonym: "Tall stature" EXACT layperson []
xref: SNOMEDCT_US:248328003
xref: UMLS:C0241240
is_a: HP:0000002 ! Abnormality of body height
created_by: peter
creation_date: 2008-02-27T02:21:00Z

[Term]
id: HP:0000099
name: Glomerulonephritis
def: "Inflammation of the renal glomeruli." [HPO:probinson]
synonym: "Glomerular nephritis" EXACT []
xref: MSH:D005921
xref: SNOMEDCT_US:36171008
xref: UMLS:C0017658
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
is_a: HP:0000123 ! Nephritis

[Term]
id: HP:0000100
name: Nephrotic syndrome
alt_id: HP:0000801
alt_id: HP:0004718
alt_id: HP:0008638
alt_id: HP:0008727
def: "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [HPO:probinson]
comment: In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h.
synonym: "Nephrosis" EXACT []
xref: MSH:D009404
xref: SNOMEDCT_US:52254009
xref: UMLS:C0027726
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0000103
name: Polyuria
alt_id: HP:0200060
def: "An increased rate of urine production." [HPO:probinson]
comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day.
synonym: "Increased urine output" EXACT layperson []
xref: MSH:D011141
xref: SNOMEDCT_US:28442001
xref: SNOMEDCT_US:56574000
xref: SNOMEDCT_US:718402002
xref: UMLS:C0032617
is_a: HP:0012590 ! Abnormal urine output

[Term]
id: HP:0000104
name: Renal agenesis
alt_id: HP:0000785
alt_id: HP:0004745
alt_id: HP:0008680
def: "Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [HPO:probinson]
comment: Renal agenesis can occur as a unilateral or bilateral trait.
synonym: "Absent kidney" EXACT layperson []
synonym: "Missing kidney" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Renal aplasia" EXACT []
xref: Fyler:4503
xref: SNOMEDCT_US:204942005
xref: UMLS:C0542519
is_a: HP:0008678 ! Renal hypoplasia/aplasia

[Term]
id: HP:0000105
name: Enlarged kidney
def: "An abnormal increase in the size of the kidney." [HPO:probinson]
comment: The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography.
synonym: "Enlarged kidney" EXACT layperson []
synonym: "Large kidney" RELATED []
synonym: "Large kidneys" EXACT layperson []
synonym: "Nephromegaly" EXACT []
synonym: "Renal enlargement" EXACT []
xref: SNOMEDCT_US:300444006
xref: UMLS:C0542518
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000107
name: Renal cyst
alt_id: HP:0000088
alt_id: HP:0000109
def: "A fluid filled sac in the kidney." [Eurenomics:fschaefer]
synonym: "Cystic kidney disease" RELATED layperson []
synonym: "Cystic kidneys" RELATED layperson [HPO:skoehler]
synonym: "Kidney cyst" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Renal cysts" RELATED [HPO:skoehler]
xref: MSH:D052177
xref: UMLS:C0022679
xref: UMLS:C3887499
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000108
name: Renal corticomedullary cysts
def: "The presence of multiple cysts at the border between the renal cortex and medulla." [HPO:probinson]
synonym: "Corticomedullary renal cysts" EXACT []
synonym: "Renal corticomedullary cystic disease" RELATED []
xref: UMLS:C1968619
is_a: HP:0000107 ! Renal cyst
is_a: HP:0011035 ! Abnormal renal cortex morphology
is_a: HP:0100957 ! Abnormal renal medulla morphology

[Term]
id: HP:0000110
name: Renal dysplasia
alt_id: HP:0000116
alt_id: HP:0004721
def: "The presence of developmental dysplasia of the kidney." [HPO:probinson]
synonym: "Dysplastic kidneys" EXACT []
synonym: "Renal adysplasia" EXACT []
xref: MSH:C563261
xref: SNOMEDCT_US:204949001
xref: UMLS:C1619700
xref: UMLS:C3536714
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000111
name: Renal juxtaglomerular cell hypertrophy/hyperplasia
def: "Increased number and size of the juxtaglomerular cells." [Eurenomics:ewuehl]
xref: UMLS:C1866496
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology

[Term]
id: HP:0000112
name: Nephropathy
def: "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
synonym: "Kidney damage" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Kidney disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D007674
xref: SNOMEDCT_US:90708001
xref: UMLS:C0022658
xref: UMLS:C1408258
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0000113
name: Polycystic kidney dysplasia
alt_id: HP:0004716
alt_id: HP:0004739
alt_id: HP:0004740
alt_id: HP:0008645
alt_id: HP:0008673
alt_id: HP:0008699
def: "The presence of multiple cysts in both kidneys." [HPO:probinson]
comment: Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys.
synonym: "Enlarged polycystic kidneys" EXACT []
synonym: "Polycystic kidney disease" RELATED []
synonym: "Polycystic kidneys" EXACT []
xref: Fyler:4508
xref: MSH:D007690
xref: SNOMEDCT_US:82525005
xref: UMLS:C0022680
xref: UMLS:C1567435
is_a: HP:0000107 ! Renal cyst

[Term]
id: HP:0000114
name: Proximal tubulopathy
alt_id: HP:0000806
def: "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle." [HPO:probinson]
synonym: "Proximal renal tubule defect" EXACT []
synonym: "Proximal renal tubulopathy" EXACT []
synonym: "Proximal tubular defect" EXACT []
synonym: "Proximal tubule dysfunction" EXACT []
synonym: "Selective proximal tubular damage" EXACT []
xref: UMLS:C1839603
is_a: HP:0000124 ! Renal tubular dysfunction

[Term]
id: HP:0000117
name: Renal phosphate wasting
def: "High urine phosphate in the presence of hypophosphatemia." [HPO:probinson]
synonym: "Decreased renal tubular phosphate reabsorption" EXACT []
synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate" EXACT []
synonym: "Tubular phosphate reabsorption low" EXACT []
xref: UMLS:C1845169
is_a: HP:0012599 ! Abnormal urine phosphate concentration

[Term]
id: HP:0000118
name: Phenotypic abnormality
def: "A phenotypic abnormality." [HPO:probinson]
comment: This is the root of the phenotypic abnormality subontology of the HPO.
synonym: "Organ abnormality" EXACT []
xref: UMLS:C4021819
is_a: HP:0000001 ! All

[Term]
id: HP:0000119
name: Abnormality of the genitourinary system
alt_id: HP:0008658
alt_id: HP:0008688
alt_id: HP:0008704
alt_id: HP:0008713
def: "The presence of any abnormality of the genitourinary system." [HPO:curators]
synonym: "Abnormality of the GU system" EXACT HP:0045077 []
synonym: "Genitourinary abnormality" EXACT []
synonym: "Genitourinary disease" RELATED []
synonym: "Genitourinary dysplasia" RELATED []
synonym: "Genitourinary tract anomalies" EXACT []
synonym: "Genitourinary tract malformation" EXACT []
synonym: "Urogenital abnormalities" EXACT []
synonym: "Urogenital anomalies" EXACT []
xref: MSH:D014564
xref: SNOMEDCT_US:287085006
xref: SNOMEDCT_US:42030000
xref: UMLS:C0042063
xref: UMLS:C0080276
xref: UMLS:C4020895
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000121
name: Nephrocalcinosis
def: "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [HPO:probinson]
comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content.
synonym: "Increased calcium level in kidney" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Too much calcium deposited in kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D009397
xref: SNOMEDCT_US:48638002
xref: UMLS:C0027709
xref: UMLS:C4280679
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000122
name: Unilateral renal agenesis
def: "A unilateral form of agenesis of the kidney." [HPO:probinson]
synonym: "Absent kidney on one side" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Missing one kidney" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Single kidney" EXACT layperson []
synonym: "Unilateral kidney agenesis" EXACT []
xref: Fyler:4509
xref: SNOMEDCT_US:55726006
xref: UMLS:C0266294
is_a: HP:0000104 ! Renal agenesis

[Term]
id: HP:0000123
name: Nephritis
alt_id: HP:0008634
def: "The presence of inflammation affecting the kidney." [HPO:probinson]
synonym: "Kidney inflammation" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D009393
xref: SNOMEDCT_US:52845002
xref: UMLS:C0027697
is_a: HP:0012211 ! Abnormal renal physiology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000124
name: Renal tubular dysfunction
def: "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid." []
synonym: "Abnormal function of filtrating structures in kidney" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Renal tubular defect" EXACT []
synonym: "Renal tubular disease" RELATED []
xref: SNOMEDCT_US:95568003
xref: UMLS:C0151747
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0000125
name: Pelvic kidney
def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [HPO:probinson]
synonym: "Sacral kidney" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:56108007
xref: UMLS:C0221209
is_a: HP:0000086 ! Ectopic kidney

[Term]
id: HP:0000126
name: Hydronephrosis
def: "Severe distention of the kidney with dilation of the renal pelvis and calices." [HPO:probinson]
comment: Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed.
xref: Fyler:4502
xref: MSH:D006869
xref: SNOMEDCT_US:43064006
xref: UMLS:C0020295
is_a: HP:0010946 ! Dilatation of the renal pelvis

[Term]
id: HP:0000127
name: Renal salt wasting
def: "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [Eurenomics:fschaefer]
synonym: "Loss of salt in urine" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Renal salt-wasting" EXACT []
synonym: "Salt wasting" EXACT []
synonym: "Salt-wasting" EXACT []
xref: UMLS:C1846347
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration

[Term]
id: HP:0000128
name: Renal potassium wasting
def: "High urine potassium in the presence of hypokalemia." [HPO:probinson]
comment: A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting.
synonym: "Renal K wasting" EXACT HP:0045077 []
xref: UMLS:C1846348
is_a: HP:0012598 ! Abnormal urine potassium concentration

[Term]
id: HP:0000130
name: Abnormality of the uterus
alt_id: HP:0008630
alt_id: HP:0008692
def: "An abnormality of the uterus." [HPO:probinson]
synonym: "Abnormality of the uterus" EXACT layperson []
synonym: "Uterine abnormalities" EXACT layperson []
synonym: "Uterine malformations" EXACT layperson []
xref: MSH:C562565
xref: SNOMEDCT_US:37849005
xref: UMLS:C0266383
is_a: HP:0000008 ! Abnormality of female internal genitalia

[Term]
id: HP:0000131
name: Uterine leiomyoma
alt_id: HP:0008642
def: "The presence of a leiomyoma of the uterus." [HPO:probinson]
comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells.
synonym: "Benign uterine leiomyomas" EXACT []
synonym: "Uterine fibroid" EXACT []
xref: MSH:D007889
xref: NCIT:C3157
xref: SNOMEDCT_US:146801000119103
xref: SNOMEDCT_US:44598004
xref: SNOMEDCT_US:95315005
xref: UMLS:C0042133
is_a: HP:0010784 ! Uterine neoplasm

[Term]
id: HP:0000132
name: Menorrhagia
alt_id: HP:0100609
def: "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." [HPO:probinson, pmid:22594864]
synonym: "Abnormally heavy bleeding during menstruation" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypermenorrhea" EXACT [pmid:22594864]
xref: MSH:D008595
xref: SNOMEDCT_US:386692008
xref: UMLS:C0025323
is_a: HP:0000140 ! Abnormality of the menstrual cycle
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0000133
name: Gonadal dysgenesis
alt_id: HP:0003243
synonym: "Mixed gonadal dysgenesis" EXACT []
synonym: "Pure gonadal dysgenesis" EXACT []
xref: MSH:D006059
xref: MSH:D006060
xref: SNOMEDCT_US:205681004
xref: SNOMEDCT_US:38804009
xref: SNOMEDCT_US:83579008
xref: SNOMEDCT_US:95219002
xref: UMLS:C0018051
xref: UMLS:C0018055
xref: UMLS:C0687149
is_a: HP:0000812 ! Abnormal internal genitalia

[Term]
id: HP:0000134
name: Female hypogonadism
def: "Decreased functionality of the female gonads, i.e., of the ovary." [HPO:probinson]
synonym: "Hypogonadism, female" EXACT []
xref: SNOMEDCT_US:16041008
xref: UMLS:C0271578
is_a: HP:0000135 ! Hypogonadism
is_a: HP:0031066 ! Abnormal ovarian physiology

[Term]
id: HP:0000135
name: Hypogonadism
def: "A decreased functionality of the gonad." [HPO:curators]
comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones.
synonym: "Decreased activity of gonads" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D007006
xref: SNOMEDCT_US:48130008
xref: UMLS:C0020619
is_a: HP:0000080 ! Abnormality of reproductive system physiology
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0000136
name: Bifid uterus
def: "The presence of a bifid uterus." [HPO:probinson]
comment: A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts.
xref: UMLS:C1850327
is_a: HP:0031105 ! Abnormal uterus morphology

[Term]
id: HP:0000137
name: Abnormality of the ovary
def: "An abnormality of the ovary." [HPO:probinson]
synonym: "Abnormality of the ovaries" EXACT layperson []
synonym: "Abnormality of the ovary" EXACT layperson []
synonym: "Ovarian disease" RELATED layperson []
xref: MSH:D010049
xref: SNOMEDCT_US:5552004
xref: UMLS:C0029928
xref: UMLS:C4021818
is_a: HP:0000008 ! Abnormality of female internal genitalia

[Term]
id: HP:0000138
name: Ovarian cyst
alt_id: HP:0000146
def: "The presence of one or more cysts of the ovary." [HPO:probinson]
synonym: "Cystic abnormalities of the ovaries" EXACT []
synonym: "Cystic ovaries" EXACT []
synonym: "Ovarian cyst" EXACT layperson []
synonym: "Ovarian cystic abnormality" EXACT []
xref: MSH:D010048
xref: SNOMEDCT_US:79883001
xref: UMLS:C0029927
is_a: HP:0031065 ! Abnormal ovarian morphology

[Term]
id: HP:0000139
name: Uterine prolapse
alt_id: HP:0100824
def: "The presence of prolapse of the uterus." [HPO:probinson]
comment: The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position.
synonym: "Sagging uterus" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D014596
xref: SNOMEDCT_US:24976005
xref: UMLS:C0042140
is_a: HP:0031105 ! Abnormal uterus morphology
is_a: HP:0100823 ! Genital hernia

[Term]
id: HP:0000140
name: Abnormality of the menstrual cycle
def: "An abnormality of the ovulation cycle." [HPO:probinson]
synonym: "Abnormality of the menstrual cycle" EXACT layperson []
synonym: "Menstrual abnormalities" RELATED layperson []
xref: UMLS:C3549779
xref: UMLS:C4025888
is_a: HP:0000008 ! Abnormality of female internal genitalia
is_a: HP:0000858 ! Menstrual irregularities

[Term]
id: HP:0000141
name: Amenorrhea
def: "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months." [pmid:22594864]
synonym: "Abnormal absence of menstruation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2219717
is_a: HP:0000140 ! Abnormality of the menstrual cycle

[Term]
id: HP:0000142
name: Abnormal vagina morphology
alt_id: HP:0008650
def: "Any structural abnormality of the vagina." [HPO:probinson]
synonym: "Vaginal malformation" EXACT []
xref: UMLS:C1856023
is_a: HP:0000008 ! Abnormality of female internal genitalia

[Term]
id: HP:0000143
name: Rectovaginal fistula
def: "The presence of a fistula between the vagina and the rectum." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal connection between rectum and vagina" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MEDDRA:10051097 "Rectovaginal fistula"
xref: MSH:D012006
xref: SNOMEDCT_US:65619001
xref: UMLS:C0034895
is_a: HP:0004320 ! Vaginal fistula
is_a: HP:0100590 ! Rectal fistula

[Term]
id: HP:0000144
name: Decreased fertility
synonym: "Abnormal fertility" EXACT layperson [HPO:skoehler]
synonym: "Decreased fertility" EXACT layperson []
xref: SNOMEDCT_US:17276009
xref: UMLS:C0520927
is_a: HP:0000080 ! Abnormality of reproductive system physiology

[Term]
id: HP:0000145
name: Transverse vaginal septum
synonym: "Transverse vaginal membrane" EXACT []
xref: UMLS:C1856006
is_a: HP:0001153 ! Septate vagina

[Term]
id: HP:0000147
name: Polycystic ovaries
alt_id: HP:0008644
alt_id: HP:0008657
synonym: "Polycystic ovary" EXACT []
synonym: "Polycystic ovary disease" RELATED []
synonym: "Sclerocystic ovaries" EXACT []
xref: MSH:D011085
xref: SNOMEDCT_US:69878008
xref: UMLS:C0032460
xref: UMLS:C1136382
is_a: HP:0000138 ! Ovarian cyst

[Term]
id: HP:0000148
name: Vaginal atresia
def: "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion." [HPO:probinson]
synonym: "Abnormally closed or absent vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:87380008
xref: UMLS:C1321884
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0001827 ! Genital tract atresia

[Term]
id: HP:0000149
name: Ovarian gonadoblastoma
def: "The presence of a gonadoblastoma of the ovary." [eMedicine:986581, HPO:probinson]
comment: Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development.
synonym: "Gonadoblastoma, female" EXACT []
xref: NCIT:C3754
xref: SNOMEDCT_US:716594002
xref: UMLS:C1518716
is_a: HP:0000150 ! Gonadoblastoma
is_a: HP:0100615 ! Ovarian neoplasm

[Term]
id: HP:0000150
name: Gonadoblastoma
alt_id: HP:0006745
def: "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements." [HPO:probinson]
xref: MSH:D018238
xref: NCIT:C3754
xref: SNOMEDCT_US:74751003
xref: UMLS:C0206661
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0100728 ! Germ cell neoplasia

[Term]
id: HP:0000151
name: Aplasia of the uterus
def: "Aplasia of the uterus." [HPO:probinson]
synonym: "Absent uterus" EXACT layperson []
synonym: "uterus absent" EXACT layperson []
xref: SNOMEDCT_US:248942000
xref: UMLS:C0425913
is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus

[Term]
id: HP:0000152
name: Abnormality of head or neck
def: "An abnormality of head and neck." [HPO:probinson]
synonym: "Abnormality of head or neck" EXACT layperson []
synonym: "Head and neck abnormality" EXACT layperson []
xref: UMLS:C4021817
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000153
name: Abnormality of the mouth
def: "An abnormality of the mouth." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal mouth" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the mouth" EXACT layperson []
xref: MSH:D009056
xref: SNOMEDCT_US:128334002
xref: UMLS:C0026633
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000154
name: Wide mouth
alt_id: HP:0000181
alt_id: HP:0002052
def: "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [pmid:19125428]
comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft.
subset: hposlim_core
synonym: "Broad mouth" EXACT layperson []
synonym: "Large mouth" EXACT layperson []
synonym: "Large oral aperture" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Macrostomia" EXACT []
synonym: "Wide mouth" EXACT layperson []
xref: MSH:D008265
xref: SNOMEDCT_US:40159009
xref: UMLS:C0024433
is_a: HP:0011337 ! Abnormality of mouth size

[Term]
id: HP:0000155
name: Oral ulcer
def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [HPO:probinson]
subset: hposlim_core
synonym: "Mouth sore" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Mouth ulcer" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D019226
xref: SNOMEDCT_US:26284000
xref: UMLS:C0149745
is_a: HP:0011830 ! Abnormal oral mucosa morphology

[Term]
id: HP:0000157
name: Abnormality of the tongue
def: "Any abnormality of the tongue." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal tongue" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the tongue" EXACT layperson []
synonym: "Glossal abnormality" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lingual abnormality" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tongue abnormality" EXACT layperson []
xref: UMLS:C0878638
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000158
name: Macroglossia
alt_id: HP:0000203
def: "Increased length and width of the tongue." [pmid:19125428]
comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue.
subset: hposlim_core
synonym: "Abnormally large tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Glossal hypertrophy" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of the tongue" EXACT []
synonym: "Hypertrophy of the tongue" EXACT []
synonym: "Increased size of tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large tongue" EXACT layperson []
synonym: "Lingual hyperplasia" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Lingual hypertrophy" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Tongue hypertrophy" EXACT []
xref: MSH:D008260
xref: SNOMEDCT_US:25273001
xref: UMLS:C0024421
is_a: HP:0003712 ! Skeletal muscle hypertrophy
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000159
name: Abnormal lip morphology
def: "An abnormality of the lip." [HPO:probinson]
synonym: "Abnormal lip" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the lip" EXACT layperson []
synonym: "Anomaly of lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Lip abnormality" EXACT layperson []
synonym: "Malformation of lip" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C2183966
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000160
name: Narrow mouth
alt_id: HP:0002261
alt_id: HP:0009095
alt_id: HP:0009096
def: "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [pmid:19125428]
comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width.
subset: hposlim_core
synonym: "Microstomia" EXACT []
synonym: "Narrow mouth" EXACT layperson []
synonym: "Small mouth" EXACT layperson []
synonym: "Small oral aperture" EXACT []
xref: MSH:D008865
xref: SNOMEDCT_US:14582003
xref: UMLS:C0026034
is_a: HP:0011337 ! Abnormality of mouth size

[Term]
id: HP:0000161
name: Median cleft lip
def: "A type of cleft lip presenting as a midline (median) gap in the upper lip." [HPO:probinson]
subset: hposlim_core
synonym: "Central cleft upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Midline cleft lip" EXACT []
xref: UMLS:C1850256
is_a: HP:0000204 ! Cleft upper lip

[Term]
id: HP:0000162
name: Glossoptosis
def: "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly." [HPO:probinson, pmid:19125428]
comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway.
subset: hposlim_core
synonym: "Lingual retraction" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Posterior displacement of the tongue" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Retraction of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D065710
xref: SNOMEDCT_US:3639002
xref: UMLS:C0267048
xref: UMLS:C4280678
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000163
name: Abnormal oral cavity morphology
def: "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth." [HPO:probinson]
synonym: "Abnormality of the oral cavity" EXACT layperson []
xref: UMLS:C4025887
is_a: HP:0031816 ! Abnormal oral morphology

[Term]
id: HP:0000164
name: Abnormality of the dentition
alt_id: HP:0001567
alt_id: HP:0006296
alt_id: HP:0006348
def: "Any abnormality of the teeth." [HPO:ibailleulforestier]
comment: Any abnormality of the primary (deciduous) or permanent teeth.
subset: hposlim_core
synonym: "Abnormal dentition" EXACT layperson []
synonym: "Abnormal teeth" EXACT layperson []
synonym: "Abnormality of the teeth" RELATED layperson []
synonym: "Dental abnormalities" EXACT layperson []
synonym: "Dental abnormality" EXACT layperson []
synonym: "Dental anomalies" EXACT HP:0045078 []
synonym: "Dental problem" RELATED layperson []
synonym: "Dental problems" RELATED layperson []
synonym: "Tooth abnormalities" RELATED layperson []
xref: MSH:D014071
xref: SNOMEDCT_US:422775003
xref: UMLS:C0040427
xref: UMLS:C0262444
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000166
name: Severe periodontitis
def: "A severe form of periodontitis." [HPO:probinson]
synonym: "Severe gum disease" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Severe periodontal disease" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Severe pyorrhea" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025886
is_a: HP:0000704 ! Periodontitis

[Term]
id: HP:0000168
name: Abnormality of the gingiva
def: "Any abnormality of the gingiva (also known as gums)." [HPO:probinson]
comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth.
subset: hposlim_core
synonym: "Abnormality of the gums" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Gingival abnormality" EXACT []
xref: UMLS:C4021816
is_a: HP:0011830 ! Abnormal oral mucosa morphology

[Term]
id: HP:0000169
name: Gingival fibromatosis
def: "The presence of fibrosis of the gingiva." [HPO:probinson]
comment: Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported.
subset: hposlim_core
synonym: "Gingival fibroma" EXACT []
synonym: "Gingival fibrous nodules" EXACT [HPO:curators]
synonym: "Hereditary gingival fibromatosis" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Idiopathic gingival hyperplasia" NARROW [ORCID:0000-0001-5889-4463]
xref: MSH:C562884
xref: MSH:D005351
xref: NCIT:C3041
xref: SNOMEDCT_US:109620006
xref: SNOMEDCT_US:58569000
xref: UMLS:C0016049
xref: UMLS:C0399440
xref: UMLS:C4280677
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0010614 ! Fibroma

[Term]
id: HP:0000171
name: Microglossia
alt_id: HP:0000226
alt_id: HP:0009079
def: "Decreased length and width of the tongue." [pmid:19125428]
comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained.
subset: hposlim_core
synonym: "Abnormally small tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of tongue" EXACT []
synonym: "Hypoglossia" EXACT []
synonym: "Hypoplasia of the tongue" EXACT []
synonym: "Hypoplastic tongue" EXACT []
synonym: "Lingual hypoplasia" EXACT []
synonym: "Rudimentary tongue" EXACT []
synonym: "Small tongue" EXACT []
synonym: "Underdevelopment of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D014060
xref: SNOMEDCT_US:249380003
xref: SNOMEDCT_US:32614006
xref: UMLS:C0025988
xref: UMLS:C0426492
is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue

[Term]
id: HP:0000172
name: Abnormality of the uvula
def: "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of palatine uvula" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the uvula" EXACT layperson []
xref: UMLS:C4025885
is_a: HP:0100736 ! Abnormal soft palate morphology

[Term]
id: HP:0000174
name: Abnormal palate morphology
def: "Any abnormality of the palate, i.e., of roof of the mouth." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the palate" EXACT layperson []
synonym: "Abnormality of the roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Palatal anomaly" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Palate abnormality" EXACT []
xref: UMLS:C4021815
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000175
name: Cleft palate
alt_id: HP:0410004
def: "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [HPO:probinson]
comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate.
subset: hposlim_core
synonym: "Cleft hard and soft palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Cleft of hard and soft palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Cleft of palate" EXACT [Facebase]
synonym: "Cleft palate" EXACT layperson []
synonym: "Cleft roof of mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Cleft secondary palate" BROAD []
synonym: "Palatoschisis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Uranostaphyloschisis" EXACT [ORCID:0000-0001-5889-4463]
xref: Fyler:4876
xref: MSH:D002972
xref: SNOMEDCT_US:63567004
xref: SNOMEDCT_US:87979003
xref: UMLS:C0008925
xref: UMLS:C2981150
is_a: HP:0000202 ! Oral cleft
is_a: HP:0100737 ! Abnormal hard palate morphology

[Term]
id: HP:0000176
name: Submucous cleft hard palate
alt_id: HP:0000208
alt_id: HP:0002746
alt_id: HP:0009091
def: "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [HPO:probinson, pmid:19779505]
synonym: "Partial thickness cleft hard palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Submucosal cleft palate" EXACT []
synonym: "Submucous clefting" RELATED []
xref: SNOMEDCT_US:43437003
xref: UMLS:C0432103
xref: UMLS:C4020894
is_a: HP:0410031 ! Submucous cleft of soft and hard palate

[Term]
id: HP:0000177
name: Abnormality of upper lip
def: "An abnormality of the upper lip." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of upper lip" EXACT layperson []
synonym: "Anomaly of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025884
is_a: HP:0000159 ! Abnormal lip morphology

[Term]
id: HP:0000178
name: Abnormality of lower lip
def: "An abnormality of the lower lip." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of lower lip" EXACT layperson []
synonym: "Anomaly of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025883
is_a: HP:0000159 ! Abnormal lip morphology

[Term]
id: HP:0000179
name: Thick lower lip vermilion
alt_id: HP:0000170
def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [HPO:curators, pmid:19125428]
comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately.
synonym: "Full lower lip" RELATED layperson []
synonym: "Full lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased height of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased volume of lower lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased volume of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Plump lower lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent lower lip" EXACT layperson []
synonym: "Prominent lower lip vermilion" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Thick lower lip" RELATED layperson []
synonym: "Thick red part of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick vermilion border of lower lip" EXACT []
xref: UMLS:C1839739
xref: UMLS:C2053437
is_a: HP:0000178 ! Abnormality of lower lip
is_a: HP:0012471 ! Thick vermilion border

[Term]
id: HP:0000180
name: Lobulated tongue
def: "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [pmid:19125428]
comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes.
subset: hposlim_core
synonym: "Bumpy tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Lingual lobules" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lobulate tongue" EXACT []
xref: SNOMEDCT_US:253752000
xref: UMLS:C0431564
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000182
name: Movement abnormality of the tongue
synonym: "Abnormality of lingual movement" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Movement abnormality of the tongue" EXACT layperson []
xref: UMLS:C4025882
is_a: HP:0030810 ! Abnormal tongue physiology

[Term]
id: HP:0000183
name: Difficulty in tongue movements
synonym: "Difficulty in lingual movements" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Difficulty in tongue movements" EXACT layperson []
synonym: "Hypokinesia of the tongue" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Lingual hypokinesia" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C1853406
xref: UMLS:C4280676
is_a: HP:0000182 ! Movement abnormality of the tongue

[Term]
id: HP:0000185
name: Cleft soft palate
def: "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [HPO:curators]
synonym: "Cleft muscular palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft of soft palate" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Cleft velum" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:C562950
xref: SNOMEDCT_US:253997002
xref: UMLS:C0432098
is_a: HP:0000175 ! Cleft palate
is_a: HP:0100736 ! Abnormal soft palate morphology

[Term]
id: HP:0000187
name: Broad alveolar ridges
synonym: "Broad alveolar margins" EXACT []
synonym: "Broad alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Wide alveolar margins" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Wide alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Wide gum ridges" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Widened alveolar ridges" EXACT []
xref: UMLS:C1857500
xref: UMLS:C4280675
is_a: HP:0006477 ! Abnormality of the alveolar ridges

[Term]
id: HP:0000188
name: Short upper lip
alt_id: HP:0200087
def: "Decreased width of the upper lip." [HPO:probinson]
synonym: "Decreased height of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased upper labial height" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased upper labial length" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased vertical length of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short upper lip" EXACT layperson []
synonym: "Shortening of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Vertical deficiency of upper lip" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1848977
is_a: HP:0000177 ! Abnormality of upper lip

[Term]
id: HP:0000189
name: Narrow palate
def: "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428]
comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow.
subset: hposlim_core
synonym: "Decreased palatal width" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased transverse dimension of palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Narrow palate" EXACT layperson []
synonym: "Narrow roof of mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1398312
is_a: HP:0000174 ! Abnormal palate morphology

[Term]
id: HP:0000190
name: Abnormal oral frenulum morphology
def: "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [HPO:probinson, PMID:23633765]
comment: A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum.
synonym: "Abnormality of frenum of tongue" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of lingual frenum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of oral frenula" EXACT []
synonym: "Abnormality of oral frenum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025881
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000191
name: Accessory oral frenulum
def: "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [pmid:19125428]
comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately.
subset: hposlim_core
synonym: "Accessory oral frenum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Extra oral frenulum" EXACT []
synonym: "Extra oral frenum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Multiple oral frenula" EXACT []
synonym: "Supernumerary oral frenulum" EXACT []
synonym: "Supernumerary oral frenum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021814
is_a: HP:0000190 ! Abnormal oral frenulum morphology

[Term]
id: HP:0000193
name: Bifid uvula
alt_id: HP:0000173
def: "Uvula separated into two parts most easily seen at the tip." [pmid:19125428]
subset: hposlim_core
synonym: "Bifid palatine uvula" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft uvula" EXACT []
synonym: "Forked uvula" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Split uvula" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Uvula bifida" EXACT []
xref: SNOMEDCT_US:18910001
xref: UMLS:C0266122
is_a: HP:0000172 ! Abnormality of the uvula

[Term]
id: HP:0000194
name: Open mouth
def: "A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson]
synonym: "Gaped jawed appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Gaped mouthed appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Open mouth" EXACT layperson []
synonym: "Open mouth appearance" RELATED layperson [HPO:skoehler]
synonym: "Slack jawed appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:262016004
xref: UMLS:C0240379
is_a: HP:0011338 ! Abnormality of mouth shape

[Term]
id: HP:0000196
name: Lower lip pit
def: "Depression located on the vermilion of the lower lip, usually paramedian." [HPO:sdoelken, pmid:19125428]
comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit).
xref: UMLS:C1861544
is_a: HP:0000178 ! Abnormality of lower lip
is_a: HP:0100269 ! Paramedian lip pit

[Term]
id: HP:0000197
name: Abnormal parotid gland morphology
def: "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [HPO:curators]
synonym: "Abnormality of parotid gland" EXACT []
synonym: "Anomaly of the parotid gland" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025880
is_a: HP:0010286 ! Abnormal salivary gland morphology

[Term]
id: HP:0000198
name: Absence of Stensen duct
synonym: "Absence of parotid duct" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Absent stensen duct" EXACT []
synonym: "Agenesis of parotid duct" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of stensen duct" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of parotid duct" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of stensen duct" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing parotid duct" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing stensen duct" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1858569
xref: UMLS:C4280674
is_a: HP:0000197 ! Abnormal parotid gland morphology

[Term]
id: HP:0000199
name: Tongue nodules
synonym: "Lingual nodules" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C0241438
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000200
name: Short lingual frenulum
def: "The presence of an abnormally short lingual frenulum." [HPO:probinson]
synonym: "Deficiency of lingual frenulum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of lingual frenulum" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of lingual frenum" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of tongue frenulum" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of tongue frenum" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Short lingual frenum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Short tongue frenulum" EXACT []
synonym: "Short tongue frenum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tight lingual frenulum" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249388005
xref: UMLS:C0426501
xref: UMLS:C4280673
is_a: HP:0000190 ! Abnormal oral frenulum morphology

[Term]
id: HP:0000201
name: Pierre-Robin sequence
def: "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [HPO:probinson]
synonym: "Pierre Robin sequence" EXACT []
synonym: "Pierre-robin anomaly" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pierre-robin deformity" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pierre-robin malformation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Robin sequence" EXACT []
xref: MSH:D010855
xref: SNOMEDCT_US:4602007
xref: UMLS:C0031900
is_a: HP:0031816 ! Abnormal oral morphology

[Term]
id: HP:0000202
name: Oral cleft
def: "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson, PMID:21331089]
synonym: "Cleft lip, cleft palate" NARROW []
synonym: "Cleft lip/palate" RELATED []
synonym: "Cleft of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Oral clefting" EXACT []
xref: SNOMEDCT_US:253983005
xref: SNOMEDCT_US:66948001
xref: UMLS:C0158646
xref: UMLS:C4021813
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0000204
name: Cleft upper lip
def: "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson]
synonym: "Cheiloschisis of upper lip" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft of upper lip" RELATED layperson []
synonym: "Cleft upper lip" EXACT layperson []
synonym: "Harelip" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: Fyler:4875
xref: MSH:D002971
xref: SNOMEDCT_US:80281008
xref: UMLS:C0008924
is_a: HP:0000177 ! Abnormality of upper lip
is_a: HP:0410030 ! Cleft lip

[Term]
id: HP:0000205
name: Pursed lips
def: "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [HPO:probinson]
synonym: "Pursed lips" EXACT layperson []
synonym: "Tightly closed lips" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1832130
is_a: HP:0011338 ! Abnormality of mouth shape

[Term]
id: HP:0000206
name: Glossitis
def: "Inflammation of the tongue." [HPO:sdoelken]
subset: hposlim_core
synonym: "Inflammation of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Lingual inflammation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Smooth swollen tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D005928
xref: SNOMEDCT_US:45534005
xref: UMLS:C0017675
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000207
name: Triangular mouth
def: "The presence of a triangular form of the mouth." [HPO:probinson]
synonym: "Triangular mouth" EXACT layperson []
synonym: "Triangular shaped mouth" EXACT layperson []
synonym: "Triangular shaped oral aperture" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1849341
is_a: HP:0011338 ! Abnormality of mouth shape

[Term]
id: HP:0000211
name: Trismus
def: "Limitation in the ability to open the mouth." [HPO:curators]
synonym: "Decrease in jaw mobility" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Decrease in jaw movement" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Decrease in jaw opening" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Decrease in mandibular mobility" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Decrease in mandibular movement" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Decrease in mandibular opening" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Limited jaw mobility" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Limited jaw movement" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Limited jaw opening" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Limited mandibular mobility" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Limited mandibular opening" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Limited mouth opening" BROAD layperson []
synonym: "Lockjaw" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Pain of muscles of mastication" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D014313
xref: SNOMEDCT_US:87866006
xref: UMLS:C0041105
xref: UMLS:C1848474
xref: UMLS:C4228933
xref: UMLS:C4280672
is_a: HP:0000277 ! Abnormality of the mandible

[Term]
id: HP:0000212
name: Gingival overgrowth
alt_id: HP:0000195
def: "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [pmid:19125428]
comment: This finding is to be distinguished from overgrowth of the alveolar ridge.
subset: hposlim_core
synonym: "Gingival enlargement" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Gingival hyperplasia" EXACT []
synonym: "Gum enlargement" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Gum hypertrophy" EXACT []
synonym: "Hypertrophic gingivitis" EXACT []
synonym: "Oral soft tissue hyperplasia" RELATED []
xref: MSH:D005885
xref: MSH:D005886
xref: MSH:D019214
xref: SNOMEDCT_US:441787004
xref: SNOMEDCT_US:441798003
xref: SNOMEDCT_US:54711002
xref: UMLS:C0017566
xref: UMLS:C0017567
xref: UMLS:C0376480
is_a: HP:0000168 ! Abnormality of the gingiva

[Term]
id: HP:0000214
name: Lip telangiectasia
def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips." [HPO:probinson]
synonym: "Angioectasias of the lip" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Labial angioectasias" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Labial telangiectasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lip telangiectases" EXACT []
synonym: "Spider veins of the lip" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Telangiectasia of the lips" EXACT [HPO:skoehler]
xref: UMLS:C1857697
xref: UMLS:C4280670
xref: UMLS:C4280671
is_a: HP:0000159 ! Abnormal lip morphology
is_a: HP:0000228 ! Oral cavity telangiectasia

[Term]
id: HP:0000215
name: Thick upper lip vermilion
alt_id: HP:0000231
def: "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428]
comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual.
subset: hposlim_core
synonym: "Full upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Full upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased height of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased volume of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased volume of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Plump upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent upper lip" EXACT layperson []
synonym: "Prominent upper lip vermilion" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Thick red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick upper lip" EXACT layperson [HPO:sdoelken]
synonym: "Thick vermilion border of upper lip" EXACT []
xref: UMLS:C1846423
is_a: HP:0011339 ! Abnormality of upper lip vermillion
is_a: HP:0012471 ! Thick vermilion border

[Term]
id: HP:0000216
name: Broad secondary alveolar ridge
synonym: "Secondary alveolar ridges" EXACT []
xref: UMLS:C1839276
is_a: HP:0000187 ! Broad alveolar ridges

[Term]
id: HP:0000217
name: Xerostomia
alt_id: HP:0002709
alt_id: HP:0100756
def: "Dryness of the mouth due to salivary gland dysfunction." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased salivary flow" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Dry mouth" EXACT layperson []
synonym: "Dry mouth syndrome" EXACT layperson []
synonym: "Reduced salivation" EXACT layperson []
xref: MSH:D014987
xref: SNOMEDCT_US:300268000
xref: SNOMEDCT_US:56893005
xref: SNOMEDCT_US:87715008
xref: UMLS:C0043352
is_a: HP:0100755 ! Abnormality of salivation

[Term]
id: HP:0000218
name: High palate
alt_id: HP:0000156
alt_id: HP:0009080
alt_id: HP:0009082
alt_id: HP:0009097
def: "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately.
synonym: "Elevated palate" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "High palate" EXACT layperson []
synonym: "High, arched palate" EXACT []
synonym: "High-arched palate" EXACT []
synonym: "Increased palatal height" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:27272007
xref: UMLS:C0240635
is_a: HP:0000174 ! Abnormal palate morphology

[Term]
id: HP:0000219
name: Thin upper lip vermilion
alt_id: HP:0200062
alt_id: HP:0200086
def: "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428]
comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately.
subset: hposlim_core
synonym: "Decreased height of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of upper lip" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thin red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin upper lip" EXACT layperson [HPO:skoehler]
synonym: "Thin upper lips" RELATED [HPO:skoehler]
synonym: "Thin vermilion border of upper lip" EXACT []
xref: UMLS:C1865017
is_a: HP:0000233 ! Thin vermilion border
is_a: HP:0011339 ! Abnormality of upper lip vermillion

[Term]
id: HP:0000220
name: Velopharyngeal insufficiency
def: "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [DDD:jhurst]
synonym: "Velopharyngeal dysfunction" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Velopharyngeal incompetence" EXACT layperson []
xref: MSH:D014681
xref: SNOMEDCT_US:229727006
xref: SNOMEDCT_US:232416001
xref: SNOMEDCT_US:278714002
xref: UMLS:C0042454
xref: UMLS:C4280669
is_a: HP:0100736 ! Abnormal soft palate morphology

[Term]
id: HP:0000221
name: Furrowed tongue
def: "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428]
comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children.
subset: hposlim_core
synonym: "Fissured tongue" EXACT [HPO:skoehler]
synonym: "Grooved tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Lingual furrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lingue plicata" EXACT [HPO:skoehler]
synonym: "Plicated tongue" EXACT [HPO:skoehler]
synonym: "Prominent tongue grooves" EXACT []
synonym: "Scrotal tongue" EXACT []
xref: MSH:D014063
xref: SNOMEDCT_US:52368004
xref: UMLS:C0040412
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000222
name: Gingival hyperkeratosis
alt_id: HP:0007539
def: "Hyperkeratosis of the gingiva." [HPO:ibailleulforestier]
comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems.
synonym: "Hyperkeratosis, gingival" EXACT []
xref: UMLS:C1857013
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0000223
name: Abnormality of taste sensation
synonym: "Abnormality of taste sensation" EXACT layperson []
xref: UMLS:C4025879
is_a: HP:0012638 ! Abnormality of nervous system physiology
is_a: HP:0030810 ! Abnormal tongue physiology

[Term]
id: HP:0000224
name: Decreased taste sensation
synonym: "Decreased taste" EXACT layperson []
synonym: "Decreased taste sensation" EXACT layperson []
synonym: "Lost taste" EXACT layperson []
xref: MSH:D000370
xref: SNOMEDCT_US:697990000
xref: UMLS:C0151934
is_a: HP:0000223 ! Abnormality of taste sensation

[Term]
id: HP:0000225
name: Gingival bleeding
alt_id: HP:0000167
def: "Hemorrhage affecting the gingiva." [HPO:ibailleulforestier]
synonym: "Bleeding gums" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Gingival hemorrhage" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Gingivorrhagia" EXACT []
xref: MSH:D005884
xref: SNOMEDCT_US:86276007
xref: UMLS:C0017565
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0000227
name: Tongue telangiectasia
def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue." [HPO:probinson]
synonym: "Angioectasias of the tongue" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Lingual angioectasias" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Lingual telangiectasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Spider veins of the tongue" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025878
xref: UMLS:C4280668
is_a: HP:0000228 ! Oral cavity telangiectasia
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0000228
name: Oral cavity telangiectasia
def: "Presence of telangiectases in the oral cavity." [HPO:probinson]
synonym: "Angioectasias of the mouth" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Angioectasias of the oral cavity" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Oral cavity teleangiectasia" EXACT []
synonym: "Spider veins of the mouth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Spider veins of the oral cavity" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025877
xref: UMLS:C4280667
is_a: HP:0011830 ! Abnormal oral mucosa morphology
is_a: HP:0100579 ! Mucosal telangiectasiae

[Term]
id: HP:0000230
name: Gingivitis
def: "Inflammation of the gingiva." [HPO:probinson]
subset: hposlim_core
synonym: "Gingival inflammation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Inflamed gums" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Red and swollen gums" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D005891
xref: SNOMEDCT_US:66383009
xref: UMLS:C0017574
is_a: HP:0000168 ! Abnormality of the gingiva

[Term]
id: HP:0000232
name: Everted lower lip vermilion
alt_id: HP:0000184
alt_id: HP:0002264
alt_id: HP:0002712
alt_id: HP:0004665
alt_id: HP:0009086
alt_id: HP:0009093
def: "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [pmid:19125428]
comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term.
subset: hposlim_core
synonym: "Drooping lower lip" EXACT layperson []
synonym: "Eclabium of lower lip" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Everted lower lip" EXACT []
synonym: "Everted prominent lower lip" EXACT []
synonym: "Outward turned lower lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Protruding lower lip" RELATED layperson []
xref: UMLS:C1853246
xref: UMLS:C1866234
is_a: HP:0000178 ! Abnormality of lower lip
is_a: HP:0012472 ! Eclabion

[Term]
id: HP:0000233
name: Thin vermilion border
alt_id: HP:0000213
def: "Reduced width of the skin of vermilion border region of upper lip." [HPO:probinson]
comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face.
synonym: "Decreased volume of lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of lip vermillion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thin lips" EXACT layperson []
synonym: "Thin vermilion borders" RELATED [HPO:skoehler]
synonym: "Thin vermillion" EXACT []
xref: SNOMEDCT_US:301348000
xref: UMLS:C0578038
is_a: HP:0000159 ! Abnormal lip morphology

[Term]
id: HP:0000234
name: Abnormality of the head
def: "An abnormality of the head." [HPO:probinson]
synonym: "Abnormal head" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the head" EXACT layperson []
synonym: "Head abnormality" EXACT layperson []
xref: UMLS:C4021812
is_a: HP:0000152 ! Abnormality of head or neck

[Term]
id: HP:0000235
name: Abnormality of the fontanelles or cranial sutures
def: "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments )." [HPO:probinson, pmid:12825844]
comment: Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months.
xref: UMLS:C4025876
is_a: HP:0002683 ! Abnormality of the calvaria

[Term]
id: HP:0000236
name: Abnormality of the anterior fontanelle
def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [HPO:curators]
synonym: "Abnormality of the forehead soft spot" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025875
is_a: HP:0011328 ! Abnormality of fontanelles

[Term]
id: HP:0000237
name: Small anterior fontanelle
def: "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms." [HPO:probinson]
synonym: "Small anterior fontanel" EXACT []
synonym: "Small forehead fontanel" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1859455
is_a: HP:0000236 ! Abnormality of the anterior fontanelle

[Term]
id: HP:0000238
name: Hydrocephalus
alt_id: HP:0007189
alt_id: HP:0008503
def: "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, pmid:18211712, pmid:19410151]
comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord.
synonym: "Hydrocephaly" EXACT []
synonym: "Nonsyndromal hydrocephalus" EXACT []
synonym: "Too much cerebrospinal fluid in the brain" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D006849
xref: SNOMEDCT_US:230745008
xref: UMLS:C0020255
is_a: HP:0002118 ! Abnormality of the cerebral ventricles
is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid

[Term]
id: HP:0000239
name: Large fontanelles
alt_id: HP:0004473
def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:probinson]
comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel).
synonym: "Enlarged fontanelles" EXACT []
synonym: "Large bregma sutures" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Large fontanel" EXACT []
synonym: "Large fontanelle" EXACT []
synonym: "Large fontanels" EXACT []
synonym: "Large, late-closing fontanelle" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Persistent wide fontanel" EXACT []
synonym: "Wide bregma sutures" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Wide fontanelles" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:276709006
xref: UMLS:C0456132
xref: UMLS:C4072820
xref: UMLS:C4072821
xref: UMLS:C4072822
is_a: HP:0011328 ! Abnormality of fontanelles

[Term]
id: HP:0000240
name: Abnormality of skull size
def: "Any abnormality of the size of the skull." [HPO:curators]
synonym: "Abnormality of cranium size" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of head size" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of skull size" EXACT layperson []
xref: UMLS:C4025874
is_a: HP:0000929 ! Abnormality of the skull

[Term]
id: HP:0000242
name: Parietal bossing
alt_id: HP:0004641
def: "Parietal bossing is a marked prominence in the parietal region." [HPO:probinson]
synonym: "Biparietal bossing" EXACT []
synonym: "Bossing of parietal bone" EXACT []
xref: UMLS:C1857126
is_a: HP:0002696 ! Abnormal parietal bone morphology

[Term]
id: HP:0000243
name: Trigonocephaly
def: "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." [pmid:19125436]
comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture.
subset: hposlim_core
synonym: "Triangular cranium shape" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Triangular head shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Triangular skull shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wedge shaped cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wedge shaped head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Wedge shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D003398
xref: SNOMEDCT_US:28740008
xref: UMLS:C0265535
xref: UMLS:C4280665
xref: UMLS:C4280666
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0000244
name: Brachyturricephaly
def: "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region." [PMID:8460563]
synonym: "Brachy-turricephaly" EXACT [PMID:8460563]
synonym: "High, prominent forehead" EXACT layperson [https://orcid.org/0000-0002-9353-5498]
synonym: "Turribrachycephaly" EXACT []
xref: UMLS:C1857484
is_a: HP:0000248 ! Brachycephaly
is_a: HP:0000262 ! Turricephaly

[Term]
id: HP:0000245
name: Abnormality of the paranasal sinuses
def: "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses." [HPO:curators]
synonym: "Abnormality of the sinuses" BROAD layperson []
synonym: "Abnormality of the sinuses of the head" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025873
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0000246
name: Sinusitis
def: "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [HPO:probinson]
subset: hposlim_core
synonym: "Sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Sinus infection" BROAD layperson []
synonym: "Sinus inflammation" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D010254
xref: MSH:D012852
xref: SNOMEDCT_US:36971009
xref: SNOMEDCT_US:7393007
xref: UMLS:C0030469
xref: UMLS:C0037199
is_a: HP:0000245 ! Abnormality of the paranasal sinuses
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000248
name: Brachycephaly
alt_id: HP:0002258
alt_id: HP:0004479
alt_id: HP:0008512
def: "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [HPO:probinson, pmid:19125436]
comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately.
subset: hposlim_core
synonym: "Broad cranium shape" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Broad head shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Broad skull shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Short and broad skull" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Wide cranium shape" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Wide head shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide skull shape" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D003398
xref: SNOMEDCT_US:13649004
xref: UMLS:C0221356
xref: UMLS:C4072823
xref: UMLS:C4072824
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0000250
name: Dense calvaria
def: "An abnormal increase of density of the bones making up the calvaria." [HPO:curators]
synonym: "Dense skull cap" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1854834
is_a: HP:0002683 ! Abnormality of the calvaria
is_a: HP:0004330 ! Increased skull ossification

[Term]
id: HP:0000252
name: Microcephaly
alt_id: HP:0001366
alt_id: HP:0005485
alt_id: HP:0005489
alt_id: HP:0005497
def: "Head circumference below 2 standard deviations below the mean for age and gender." [pmid:19125436, PMID:25465325, pmid:9683597]
comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean.
subset: hposlim_core
synonym: "Abnormally small cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormally small head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormally small skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased circumference of cranium" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Reduced head circumference" EXACT layperson []
synonym: "small calvarium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "small cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Small head circumference" EXACT layperson []
synonym: "Small skull" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: Fyler:4310
xref: SNOMEDCT_US:271611007
xref: UMLS:C0424688
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum
is_a: HP:0040195 ! Decreased head circumference

[Term]
id: HP:0000253
name: Progressive microcephaly
def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:probinson]
synonym: "Microcephaly, postnatal, progressive" EXACT []
synonym: "Microcephaly, progressive" EXACT [HPO:skoehler]
synonym: "Progressively abnormally small cranium" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Progressively abnormally small skull" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1850456
is_a: HP:0005484 ! Postnatal microcephaly

[Term]
id: HP:0000255
name: Acute sinusitis
def: "An acute form of sinusitis." [HPO:probinson]
xref: SNOMEDCT_US:15805002
xref: UMLS:C0149512
is_a: HP:0000246 ! Sinusitis

[Term]
id: HP:0000256
name: Macrocephaly
alt_id: HP:0005491
alt_id: HP:0005496
alt_id: HP:0200135
def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [pmid:19125436]
comment: Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex.
subset: hposlim_core
synonym: "Big calvaria" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Big cranium" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Big head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Big skull" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased size of cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased size of head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased size of skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large calvaria" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Large cranium" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Large head" EXACT layperson []
synonym: "Large head circumference" EXACT layperson []
synonym: "Large skull" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Macrocrania" EXACT []
synonym: "Megacephaly" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:4335
xref: UMLS:C4083076
xref: UMLS:C4255213
xref: UMLS:C4280663
xref: UMLS:C4280664
is_a: HP:0040194 ! Increased head circumference

[Term]
id: HP:0000260
name: Wide anterior fontanel
def: "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators]
synonym: "Large anterior fontanel" EXACT []
synonym: "Large anterior fontanelle" EXACT []
synonym: "Large anterior fontanels" RELATED [HPO:skoehler]
synonym: "Large open anterior fontanel" EXACT []
synonym: "Large open anterior fontanelle" EXACT []
synonym: "Wide anterior fontanelle" EXACT []
synonym: "Wide open anterior fontanelle" EXACT []
synonym: "Wider-than-typical soft spot of skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1866134
is_a: HP:0000236 ! Abnormality of the anterior fontanelle
is_a: HP:0000239 ! Large fontanelles

[Term]
id: HP:0000262
name: Turricephaly
alt_id: HP:0001356
def: "Tall head relative to width and length." [pmid:19125436]
comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape.
subset: hposlim_core
synonym: "Tall shaped cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tall shaped head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Tall shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Tower cranium shape" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tower skull shape" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D003398
xref: SNOMEDCT_US:48069004
xref: UMLS:C0030044
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0000263
name: Oxycephaly
def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [HPO:curators]
synonym: "Acrocephaly" RELATED []
xref: MSH:D003398
xref: SNOMEDCT_US:48069004
xref: UMLS:C0030044
is_a: HP:0000262 ! Turricephaly

[Term]
id: HP:0000264
name: Abnormality of the mastoid
def: "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [HPO:pnrobinson]
subset: hposlim_core
synonym: "Abnormality of mastoid process of temporal bone" EXACT []
xref: UMLS:C4025872
is_a: HP:0000929 ! Abnormality of the skull

[Term]
id: HP:0000265
name: Mastoiditis
xref: MSH:D008417
xref: SNOMEDCT_US:52404001
xref: UMLS:C0024904
is_a: HP:0000264 ! Abnormality of the mastoid

[Term]
id: HP:0000267
name: Cranial asymmetry
def: "Asymmetry of the bones of the skull." [HPO:curators]
synonym: "Abnormality of cranial vault shape" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of cranium shape" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of head shape" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Cranial vault asymmetry" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Malformation of cranial vault shape" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Malformation of cranium shape" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Malformation of head shape" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven head shape" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1860245
xref: UMLS:C4280258
xref: UMLS:C4280657
xref: UMLS:C4280658
xref: UMLS:C4280659
xref: UMLS:C4280660
xref: UMLS:C4280661
xref: UMLS:C4280662
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0000268
name: Dolichocephaly
alt_id: HP:0000258
alt_id: HP:0005440
def: "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [HPO:probinson, pmid:19125436]
comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped).
subset: hposlim_core
synonym: "Large dolichocephalic skull" NARROW []
synonym: "Long, narrow head" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Narrow cranium shape" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Narrow head shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Narrow skull shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Tall and narrow skull" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Turridolichocephaly" BROAD []
xref: SNOMEDCT_US:72239002
xref: UMLS:C0221358
xref: UMLS:C4280653
xref: UMLS:C4280654
xref: UMLS:C4280655
xref: UMLS:C4280656
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0000269
name: Prominent occiput
alt_id: HP:0004489
def: "Increased convexity of the occiput (posterior part of the skull)." [pmid:19125436]
comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately.
subset: hposlim_core
synonym: "Prominent back of the head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent back of the skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent posterior cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent posterior head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent posterior skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Protruding back of the head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Protruding occiput" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1853737
xref: UMLS:C4280652
is_a: HP:0011217 ! Abnormal shape of the occiput

[Term]
id: HP:0000270
name: Delayed cranial suture closure
alt_id: HP:0002704
alt_id: HP:0003794
def: "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:probinson]
synonym: "Broad late closing cranial sutures" EXACT []
synonym: "Delayed closure of fontanel" EXACT []
synonym: "Delayed closure of fontanelles" EXACT []
synonym: "Delayed closure of fontanels" EXACT [HPO:skoehler]
synonym: "Delayed closure of the fontanelles" EXACT []
synonym: "Delayed cranial suture closure" EXACT layperson []
synonym: "Delayed fontanel closure" EXACT []
synonym: "Delayed fontanelle closure" EXACT []
synonym: "Late closing fontanelles" EXACT []
synonym: "Late closure of fontanelle" EXACT []
synonym: "Late-closing fontanelle" EXACT []
synonym: "Open sutures" EXACT []
xref: SNOMEDCT_US:82779003
xref: UMLS:C0277828
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0000271
name: Abnormality of the face
def: "An abnormality of the face." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal face" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the countenance" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the face" EXACT layperson []
synonym: "Abnormality of the physiognomy" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the visage" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of face" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the face" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Disorder of face" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Disorder of the face" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial abnormality" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial anomaly" RELATED [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:118930001
xref: SNOMEDCT_US:32003007
xref: SNOMEDCT_US:398206004
xref: SNOMEDCT_US:398302004
xref: UMLS:C0266617
xref: UMLS:C1290857
xref: UMLS:C4025871
is_a: HP:0000234 ! Abnormality of the head

[Term]
id: HP:0000272
name: Malar flattening
alt_id: HP:0000312
alt_id: HP:0000332
alt_id: HP:0004642
alt_id: HP:0004658
alt_id: HP:0004671
alt_id: HP:0005319
alt_id: HP:0005443
alt_id: HP:0005455
alt_id: HP:0100846
def: "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436]
comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="ORCID:0000-0001-5889-4463"}
subset: hposlim_core
synonym: "Decreased size of malar bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Depressed malar region" EXACT []
synonym: "Flat cheekbone" EXACT [ORCID:0000-0002-9353-5498]
synonym: "Hypotrophic malar bone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Malar hypoplasia" EXACT []
synonym: "Underdevelopment of malar bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Zygomatic flattening" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1858085
xref: UMLS:C4280651
is_a: HP:0012369 ! Abnormality of malar bones

[Term]
id: HP:0000273
name: Facial grimacing
synonym: "Facial grimacing" EXACT layperson []
xref: SNOMEDCT_US:37126005
xref: UMLS:C0234853
is_a: HP:0005324 ! Disturbance of facial expression

[Term]
id: HP:0000274
name: Small face
def: "A face that is short (HP:0011219) and narrow (HP:0000275)." [HP:probinson]
comment: This term represents a combination of two terms, short face and narrow face.
synonym: "Facial hypoplasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Microface" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Microfacies" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Short and narrow face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small face" EXACT layperson []
synonym: "Small facies" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855538
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000275
name: Narrow face
alt_id: HP:0000318
def: "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [pmid:19125436]
comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible.
subset: hposlim_core
synonym: "Decreased breadth of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased horizontal dimension of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased transverse dimension of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Horizontal deficiency of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Horizontal hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Horizontal insufficiency of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Narrow face" EXACT layperson []
synonym: "Narrow facies" EXACT []
synonym: "Thin face" RELATED layperson []
synonym: "Thin facies" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Transverse deficiency of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Transverse hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Transverse insufficiency of face" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1837463
xref: UMLS:C1849121
is_a: HP:0000274 ! Small face

[Term]
id: HP:0000276
name: Long face
alt_id: HP:0000334
def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [pmid:19125436]
comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face.
subset: hposlim_core
synonym: "Elongation of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased height of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased length of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased vertical dimension of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Long face" EXACT layperson []
synonym: "Long facies" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical elongation of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Vertical enlargement of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Vertical excess of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical Facial Excess" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical overgrowth of face" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1836047
is_a: HP:0100729 ! Large face

[Term]
id: HP:0000277
name: Abnormality of the mandible
alt_id: HP:0000209
def: "Any abnormality of the mandible, the bone of the lower jaw." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the lower jaw bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the mandible" EXACT layperson []
synonym: "Anomaly of the mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the lower jaw bone" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the lower jaw bone" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the mandible" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025870
is_a: HP:0030791 ! Abnormal jaw morphology

[Term]
id: HP:0000278
name: Retrognathia
alt_id: HP:0002053
alt_id: HP:0002954
def: "An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson]
subset: hposlim_core
synonym: "Receding chin" EXACT layperson []
synonym: "Receding lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Receding mandible" EXACT []
synonym: "Retrogenia" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Retrognathia of lower jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Weak chin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Weak jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D063173
xref: UMLS:C3494422
is_a: HP:0000277 ! Abnormality of the mandible

[Term]
id: HP:0000280
name: Coarse facial features
alt_id: HP:0000281
alt_id: HP:0004640
def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [pmid:19125436]
subset: hposlim_core
synonym: "Coarse face" EXACT []
synonym: "Coarse facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Coarse facial features" EXACT layperson []
synonym: "Coarse facies" EXACT []
synonym: "Rounded and heavy facial features" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Thickened facial skin with coarse facial features" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1845847
xref: UMLS:C4072825
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000282
name: Facial edema
synonym: "Facial puffiness" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial swelling" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:445088006
xref: UMLS:C0542571
is_a: HP:0000969 ! Edema
is_a: HP:0011799 ! Abnormality of facial soft tissue

[Term]
id: HP:0000283
name: Broad face
def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [pmid:19125436]
comment: Note that broad face is distinct from round face.
subset: hposlim_core
synonym: "Broad face" EXACT layperson []
synonym: "Broad facies" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Horizontal excess of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Horizontal hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased breadth of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased horizontal dimension of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased transverse dimension of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased width of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Transverse excess of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Transverse hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wide face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide facies" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1859680
is_a: HP:0100729 ! Large face

[Term]
id: HP:0000284
name: obsolete Abnormality of the ocular region
is_obsolete: true
replaced_by: HP:0000315

[Term]
id: HP:0000286
name: Epicanthus
alt_id: HP:0000624
alt_id: HP:0007930
def: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:probinson]
comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris.
subset: hposlim_core
synonym: "Epicanthal fold" EXACT []
synonym: "Epicanthal folds" EXACT []
synonym: "Epicanthic folds" EXACT []
synonym: "Eye folds" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Palpebronasal fold" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Plica palpebronasalis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent eye folds" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0678230
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0000287
name: Increased facial adipose tissue
def: "An increased amount of subcutaneous fat tissue in the face." [HPO:probinson]
synonym: "Facial fat hyperplasia" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Facial fat hypertrophy" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Increased amount of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased amount of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased volume of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025868
xref: UMLS:C4280649
xref: UMLS:C4280650
is_a: HP:0000291 ! Abnormality of facial adipose tissue

[Term]
id: HP:0000288
name: Abnormality of the philtrum
alt_id: HP:0011216
def: "An abnormality of the philtrum." [HPO:probinson]
comment: The paralabial region is the region surrounding the lips and includes the philtrum.
subset: hposlim_core
synonym: "Abnormal philtrum" EXACT []
synonym: "Abnormality of the infranasal depression" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the paralabial region" EXACT []
xref: UMLS:C1857045
is_a: HP:0000177 ! Abnormality of upper lip

[Term]
id: HP:0000289
name: Broad philtrum
def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [pmid:19152422]
comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum.
subset: hposlim_core
synonym: "Increased breadth of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased horizontal dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased transverse dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased width of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wide philtrum" EXACT []
xref: UMLS:C1854111
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0000290
name: Abnormality of the forehead
def: "An anomaly of the forehead." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the forehead" EXACT layperson []
synonym: "Abnormality of the frontal region of the face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025867
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000291
name: Abnormality of facial adipose tissue
synonym: "Abnormality of facial fat" EXACT layperson []
synonym: "Deformity of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025866
is_a: HP:0009124 ! Abnormal adipose tissue morphology
is_a: HP:0011799 ! Abnormality of facial soft tissue

[Term]
id: HP:0000292
name: Loss of facial adipose tissue
def: "Loss of normal subcutaneous fat tissue in the face." [HPO:curators]
synonym: "Decreased amount of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased amount of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Loss of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Loss of facial subcutaneous adipose tissue" EXACT []
synonym: "Loss of subcutaneous adipose tissue from face" EXACT []
xref: UMLS:C1837767
is_a: HP:0000291 ! Abnormality of facial adipose tissue
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0000293
name: Full cheeks
alt_id: HP:0002262
alt_id: HP:0004427
def: "Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie]
subset: hposlim_core
synonym: "Apple cheeks" EXACT layperson []
synonym: "Big cheeks" EXACT layperson []
synonym: "Chubby cheeks" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Full cheeks" EXACT layperson []
synonym: "Hyperplasia of cheeks" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of cheeks" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased size of cheeks" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large cheeks" EXACT layperson []
synonym: "Puffy cheeks" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1866231
xref: UMLS:C2748653
xref: UMLS:C3806443
xref: UMLS:C4280647
xref: UMLS:C4280648
is_a: HP:0004426 ! Abnormality of the cheek

[Term]
id: HP:0000294
name: Low anterior hairline
def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [pmid:19125436]
comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair.
subset: hposlim_core
synonym: "Low frontal hairline" EXACT layperson []
synonym: "Low-set frontal hairline" EXACT layperson []
xref: UMLS:C1842366
is_a: HP:0000599 ! Abnormality of the frontal hairline

[Term]
id: HP:0000295
name: Doll-like facies
def: "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [HPO:probinson]
comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely.
synonym: "Doll-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856361
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000297
name: Facial hypotonia
def: "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson]
synonym: "Atony of facial musculature" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotonic facies" EXACT []
synonym: "Low facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Reduced facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1845251
xref: UMLS:C4280646
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0001252 ! Muscular hypotonia

[Term]
id: HP:0000298
name: Mask-like facies
def: "A lack of facial expression often with staring eyes and a slightly open mouth." [HPO:probinson]
comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy.
synonym: "Amimia" EXACT []
synonym: "Expressionless face" EXACT layperson []
synonym: "Lack of facial expression" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Mask-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Masklike facies" EXACT []
xref: SNOMEDCT_US:103606006
xref: UMLS:C0424448
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0000300
name: Oval face
def: "A face with a rounded and slightly elongated outline." [HPO:probinson]
synonym: "Oval face" EXACT layperson []
synonym: "Oval facial shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Oval facies" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1849025
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000301
name: Abnormality of facial musculature
def: "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson]
comment: Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure.
synonym: "Abnormality of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial muscle issue" EXACT layperson []
xref: UMLS:C4025865
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0011799 ! Abnormality of facial soft tissue

[Term]
id: HP:0000303
name: Mandibular prognathia
alt_id: HP:0000251
alt_id: HP:0000279
alt_id: HP:0000328
alt_id: HP:0002051
alt_id: HP:0004648
alt_id: HP:0004656
alt_id: HP:0008514
def: "Abnormal prominence of the chin related to increased length of the mandible." [HPO:probinson]
subset: hposlim_core
synonym: "Big lower jaw" EXACT layperson []
synonym: "Big mandible" EXACT []
synonym: "Enlarged mandible" EXACT []
synonym: "Enlargement of mandible" EXACT []
synonym: "Hyperplasia of lower jaw" EXACT []
synonym: "Hypertrophy of lower jaw" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of mandible" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased projection of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased projection of mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased size of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased size of mandible" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Large lower jaw" EXACT layperson []
synonym: "Large mandible" EXACT []
synonym: "Lower jaw excess" EXACT []
synonym: "Lower jaw hyperplasia" EXACT []
synonym: "Macromandible" EXACT []
synonym: "Mandible prognathism" EXACT []
synonym: "Mandibular excess" EXACT []
synonym: "Mandibular hyperplasia" EXACT []
synonym: "Mandibular macrognathia" EXACT []
synonym: "Mandibular prognathism" EXACT []
synonym: "Prognathia" EXACT []
synonym: "Prognathism" EXACT []
synonym: "Prominent chin" EXACT layperson []
synonym: "Prominent jaw" EXACT []
synonym: "Prominent lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Relative mandibular prognathism" EXACT []
xref: MSH:D008313
xref: SNOMEDCT_US:109504005
xref: SNOMEDCT_US:22810007
xref: UMLS:C0302501
xref: UMLS:C0399526
xref: UMLS:C2227134
xref: UMLS:C4280644
xref: UMLS:C4280645
is_a: HP:0000277 ! Abnormality of the mandible
is_a: HP:0000306 ! Abnormality of the chin

[Term]
id: HP:0000306
name: Abnormality of the chin
def: "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [HPO:probinson, pmid:19125436]
subset: hposlim_core
synonym: "Abnormality of the chin" EXACT layperson []
synonym: "Abnormality of the menton" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the chin" NARROW layperson []
synonym: "Deformity of the chin" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the chin" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025864
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000307
name: Pointed chin
alt_id: HP:0005330
def: "A marked tapering of the lower face to the chin." [pmid:19125436]
comment: The two rami of the mandible meet at an acute angle.
subset: hposlim_core
synonym: "Pointed chin" EXACT layperson []
synonym: "Pointed mention region" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pointy chin" EXACT layperson []
synonym: "Small pointed chin" EXACT layperson []
synonym: "Witch's chin" EXACT layperson []
xref: UMLS:C1844505
is_a: HP:0000306 ! Abnormality of the chin

[Term]
id: HP:0000308
name: Microretrognathia
def: "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly." [HPO:probinson]
synonym: "Retromicrognathia" EXACT []
synonym: "Small retruded chin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1839546
is_a: HP:0000278 ! Retrognathia
is_a: HP:0000347 ! Micrognathia

[Term]
id: HP:0000309
name: Abnormality of the midface
def: "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface." [HPO:probinson, pmid:19125436]
synonym: "Abnormality of the midface" EXACT layperson []
synonym: "Anomaly of the midface" EXACT []
synonym: "Deformity of the midface" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the midface" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021811
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000311
name: Round face
alt_id: HP:0000304
alt_id: HP:0004653
def: "The facial appearance is more circular than usual as viewed from the front." [pmid:19125436]
subset: hposlim_core
synonym: "Circular face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Round face" EXACT layperson []
synonym: "Round facial appearance" EXACT layperson []
synonym: "Round facial shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Round facies" EXACT []
synonym: "Round, full face" BROAD []
xref: UMLS:C0239479
xref: UMLS:C1856468
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000315
name: Abnormality of the orbital region
alt_id: HP:0000284
synonym: "Abnormality of the eye region" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the region around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025863
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000316
name: Hypertelorism
alt_id: HP:0000578
alt_id: HP:0002001
alt_id: HP:0004657
alt_id: HP:0007871
def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [pmid:19125427]
subset: hposlim_core
synonym: "Excessive orbital separation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased distance between eye sockets" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased distance between eyes" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased interpupillary distance" EXACT []
synonym: "Ocular hypertelorism" EXACT []
synonym: "Wide-set eyes" EXACT layperson []
synonym: "Widely spaced eyes" EXACT layperson []
synonym: "Widened interpupillary distance" EXACT []
xref: MSH:D006972
xref: SNOMEDCT_US:194021007
xref: SNOMEDCT_US:22006008
xref: UMLS:C0020534
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0000317
name: Facial myokymia
alt_id: HP:0004651
def: "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:curators]
comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes.
synonym: "Involuntary facial contraction" EXACT []
synonym: "Involuntary facial quivering" EXACT layperson []
xref: MSH:D005155
xref: SNOMEDCT_US:1070000
xref: UMLS:C0270871
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0002411 ! Myokymia

[Term]
id: HP:0000319
name: Smooth philtrum
alt_id: HP:0000299
alt_id: HP:0000323
alt_id: HP:0004663
def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [pmid:19152422]
comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately.
synonym: "Decreased depth of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flat philtrum" EXACT []
synonym: "Indistinct philtrum" EXACT []
synonym: "Philtrum, smooth" EXACT []
synonym: "Shallow philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Simple philtrum" EXACT []
xref: UMLS:C1142533
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0000320
name: Bird-like facies
synonym: "Bird-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1837758
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000321
name: Square face
def: "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [pmid:19125436]
synonym: "Square face" EXACT layperson []
synonym: "Square facial shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Square facies" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1832127
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000322
name: Short philtrum
alt_id: HP:0200090
def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [pmid:19152422]
subset: hposlim_core
synonym: "Decreased height of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased length of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased vertical dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical hypoplasia of philtrum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1861324
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0000324
name: Facial asymmetry
alt_id: HP:0003775
def: "An abnormal difference between the left and right sides of the face." [HPO:probinson]
subset: hposlim_core
synonym: "Asymmetric facies" EXACT []
synonym: "Asymmetry of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of right and left side of face" EXACT []
synonym: "Crooked face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial asymmetry" EXACT layperson []
synonym: "Unbalanced face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Unequal sides of face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven sides of face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Unsymmetrical face" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D005146
xref: SNOMEDCT_US:15253005
xref: UMLS:C1306710
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000325
name: Triangular face
alt_id: HP:0004645
alt_id: HP:0004662
alt_id: HP:0004668
def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [DDD:jclayton-smith, pmid:19125436]
subset: hposlim_core
synonym: "Face with broad temples and narrow chin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Triangular face" EXACT layperson []
synonym: "Triangular facial shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Triangular facies" EXACT []
xref: UMLS:C1835884
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0000326
name: Abnormality of the maxilla
def: "An abnormality of the Maxilla (upper jaw bone)." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the upper jaw bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the maxilla" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the maxilla" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the maxilla" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025862
is_a: HP:0030791 ! Abnormal jaw morphology

[Term]
id: HP:0000327
name: Hypoplasia of the maxilla
alt_id: HP:0004644
def: "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased projection of maxilla" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased projection of upper jaw" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of maxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of upper jaw bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of upper jaw bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic maxillary bones" EXACT []
synonym: "Hypotrophic maxilla" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic upper jaw bones" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Maxillary deficiency" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Maxillary hypoplasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Maxillary micrognathia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Maxillary retrognathia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Maxillary retrusion" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Micromaxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Retrognathia of upper jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Retrusion of upper jaw bones" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small maxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Upper jaw deficiency" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Upper jaw retrusion" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0240310
xref: UMLS:C4082243
xref: UMLS:C4280640
xref: UMLS:C4280641
xref: UMLS:C4280642
xref: UMLS:C4280643
is_a: HP:0000326 ! Abnormality of the maxilla

[Term]
id: HP:0000329
name: Facial hemangioma
def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [HPO:curators]
synonym: "Facial hemangiomata" EXACT []
xref: UMLS:C1861443
is_a: HP:0001028 ! Hemangioma
is_a: HP:0011799 ! Abnormality of facial soft tissue

[Term]
id: HP:0000331
name: Short chin
def: "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [HPO:probinson, pmid:19125436]
comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension).
synonym: "Decreased height of chin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short chin" EXACT layperson []
synonym: "Short lower third of face" EXACT layperson []
synonym: "Small chin" RELATED layperson []
synonym: "Vertical deficiency of chin" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical hypoplasia of chin" EXACT []
xref: SNOMEDCT_US:699439001
xref: UMLS:C1839323
xref: UMLS:C3697248
is_a: HP:0000306 ! Abnormality of the chin

[Term]
id: HP:0000336
name: Prominent supraorbital ridges
def: "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [pmid:19125436]
subset: hposlim_core
synonym: "Hyperplasia of supraorbital margins" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of supraorbital ridge" NARROW []
synonym: "Hypertrophy of supraorbital margins" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of supraorbital ridge" NARROW []
synonym: "Prominent brow" EXACT layperson []
synonym: "Prominent supraorbital margins" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent supraorbital ridge" EXACT []
synonym: "Protruding supraorbital ridge" EXACT []
synonym: "Supraorbital hyperostosis" EXACT []
xref: UMLS:C1842060
xref: UMLS:C4280636
xref: UMLS:C4280637
xref: UMLS:C4280638
xref: UMLS:C4280639
is_a: HP:0100538 ! Abnormality of the supraorbital ridges

[Term]
id: HP:0000337
name: Broad forehead
alt_id: HP:0000352
alt_id: HP:0000354
def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [pmid:19125436]
comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead.
subset: hposlim_core
synonym: "Bitemporal widening" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Broad forehead" EXACT layperson []
synonym: "Increased bitemporal dimension" EXACT []
synonym: "Increased bitemporal width" EXACT []
synonym: "Increased width of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Intertemporal widening" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wide forehead" EXACT layperson []
xref: UMLS:C1849089
is_a: HP:0000290 ! Abnormality of the forehead

[Term]
id: HP:0000338
name: Hypomimic face
alt_id: HP:0008769
def: "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation." [HPO:probinson]
comment: The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal.
synonym: "Decreased facial expressions" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased facial muscle movement" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Dull facial expression" EXACT layperson []
synonym: "Hypomimia" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:248149005
xref: UMLS:C0813217
xref: UMLS:C1862474
xref: UMLS:C4280635
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0000339
name: Pugilistic facies
def: "Coarse facial features reminiscent of those of a boxer." [HPO:probinson]
synonym: "Boxer-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Pugilistic facial appearance" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1846011
is_a: HP:0000280 ! Coarse facial features

[Term]
id: HP:0000340
name: Sloping forehead
alt_id: HP:0000351
alt_id: HP:0004480
alt_id: HP:0008493
alt_id: HP:0008500
def: "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view." [pmid:19125436]
comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical.
subset: hposlim_core
synonym: "Inclined forehead" EXACT layperson []
synonym: "Posteriorly sloping forehead" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Receding forehead" EXACT layperson []
synonym: "Sloping forehead" EXACT layperson []
xref: UMLS:C1857679
is_a: HP:0000290 ! Abnormality of the forehead

[Term]
id: HP:0000341
name: Narrow forehead
alt_id: HP:0000314
alt_id: HP:0004674
alt_id: HP:0004677
def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [pmid:19125436]
comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow.
subset: hposlim_core
synonym: "Bitemporal narrowing" EXACT []
synonym: "Bitemporal narrowness" EXACT []
synonym: "Bitemporal skull narrowing" EXACT []
synonym: "Decreased width of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Intertemporal narrowing" EXACT []
synonym: "Narrow bitemporal diameter" EXACT []
synonym: "Narrow bitemporal width" EXACT []
synonym: "Narrow forehead" EXACT layperson []
synonym: "Temporal narrowness" EXACT []
xref: UMLS:C1839758
is_a: HP:0000290 ! Abnormality of the forehead

[Term]
id: HP:0000343
name: Long philtrum
def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [pmid:19152422]
subset: hposlim_core
synonym: "Elongated philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased height of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased length of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased vertical dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical hyperplasia of philtrum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1865014
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0000346
name: Whistling appearance
def: "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [HPO:probinson, pmid:856233]
synonym: "Whistling appearance" EXACT layperson []
synonym: "Whistling facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1848473
is_a: HP:0000205 ! Pursed lips

[Term]
id: HP:0000347
name: Micrognathia
alt_id: HP:0000210
alt_id: HP:0000330
alt_id: HP:0000345
alt_id: HP:0002005
alt_id: HP:0002674
alt_id: HP:0004669
alt_id: HP:0005460
alt_id: HP:0005470
def: "Developmental hypoplasia of the mandible." [HPO:probinson]
comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw.
subset: hposlim_core
synonym: "Decreased projection of lower jaw" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased projection of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of lower jaw" EXACT []
synonym: "Decreased size of mandible" EXACT []
synonym: "Deficiency of lower jaw" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of lower jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of mandible" EXACT []
synonym: "Hypoplastic mandible" EXACT []
synonym: "Hypoplastic mandible condyle" EXACT []
synonym: "Hypotrophic lower jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Little lower jaw" EXACT layperson []
synonym: "Little mandible" EXACT []
synonym: "Lower jaw deficiency" EXACT []
synonym: "Lower jaw hypoplasia" EXACT [HPO:skoehler]
synonym: "Lower jaw retrognathia" EXACT []
synonym: "Lower jaw retrusion" EXACT []
synonym: "Mandibular deficiency" EXACT []
synonym: "Mandibular hypoplasia" EXACT []
synonym: "Mandibular micrognathia" EXACT []
synonym: "Mandibular retrognathia" EXACT []
synonym: "Mandibular retrusion" EXACT []
synonym: "Micrognathia of lower jaw" EXACT []
synonym: "Micromandible" EXACT []
synonym: "Retrusion of lower jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Robin mandible" EXACT []
synonym: "Severe hypoplasia of mandible" EXACT []
synonym: "Small jaw" EXACT layperson []
synonym: "Small lower jaw" EXACT layperson []
synonym: "Small mandible" EXACT []
synonym: "Underdevelopment of lower jaw" EXACT []
synonym: "Underdevelopment of mandible" EXACT []
xref: Fyler:4163
xref: MSH:D008844
xref: SNOMEDCT_US:32958008
xref: UMLS:C0025990
xref: UMLS:C0240295
xref: UMLS:C1857130
is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible

[Term]
id: HP:0000348
name: High forehead
alt_id: HP:0000342
def: "An abnormally increased height of the forehead." [HPO:probinson]
synonym: "High forehead" EXACT layperson []
synonym: "Tall forehead" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0239676
xref: UMLS:C2677762
is_a: HP:0000290 ! Abnormality of the forehead

[Term]
id: HP:0000349
name: Widow's peak
def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [pmid:19125436]
comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline.
subset: hposlim_core
synonym: "Hairline peak" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hairline point" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "V-shaped frontal hairline" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Widow's peak" EXACT layperson []
xref: UMLS:C1853486
is_a: HP:0009890 ! High anterior hairline

[Term]
id: HP:0000350
name: Small forehead
def: "The presence of a forehead that is abnormally small." [HPO:curators]
synonym: "Decreased size of forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of frontal region of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of forehead" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic forehead" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Small forehead" EXACT layperson []
xref: UMLS:C1845250
xref: UMLS:C4280633
xref: UMLS:C4280634
is_a: HP:0000290 ! Abnormality of the forehead

[Term]
id: HP:0000356
name: Abnormality of the outer ear
alt_id: HP:0001752
def: "An abnormality of the external ear." [HPO:probinson]
synonym: "Abnormal pinnae" EXACT []
synonym: "Abnormality of the auricle" EXACT []
synonym: "Abnormality of the external ear" EXACT layperson []
synonym: "Abnormality of the outer ear" EXACT layperson []
synonym: "Ear anomalies" EXACT layperson []
synonym: "External ear malformations" EXACT layperson []
synonym: "Malformed pinnae" EXACT []
synonym: "Outer ear abnormality" EXACT layperson []
xref: SNOMEDCT_US:275259005
xref: UMLS:C0266589
xref: UMLS:C1846460
is_a: HP:0031703 ! Abnormal ear morphology

[Term]
id: HP:0000357
name: Abnormal location of ears
def: "Abnormal location of the ear." [HPO:probinson]
synonym: "Abnormal location of ears" EXACT layperson []
synonym: "External ear position defect" EXACT []
xref: UMLS:C4021810
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0000358
name: Posteriorly rotated ears
alt_id: HP:0008535
def: "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson, pmid:19152421]
comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age.
subset: hposlim_core
synonym: "Ear, posterior angulation, increased" EXACT []
synonym: "Ears rotated toward back of head" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Posteriorly angulated ears" EXACT []
synonym: "Posteriorly rotated" EXACT []
synonym: "Posteriorly rotated auricles" EXACT []
synonym: "Posteriorly-angulated ears" EXACT []
synonym: "Posteriorly-rotated ears" EXACT []
xref: SNOMEDCT_US:253251006
xref: UMLS:C0431478
is_a: HP:0000357 ! Abnormal location of ears

[Term]
id: HP:0000359
name: Abnormality of the inner ear
def: "An abnormality of the inner ear." [HPO:probinson]
synonym: "Abnormality of the inner ear" EXACT layperson []
synonym: "Inner ear abnormality" EXACT layperson []
xref: UMLS:C4021809
is_a: HP:0031703 ! Abnormal ear morphology

[Term]
id: HP:0000360
name: Tinnitus
def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233]
subset: hposlim_core
synonym: "Ringing in ears" EXACT layperson []
synonym: "Ringing in the ears" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D014012
xref: SNOMEDCT_US:162349004
xref: SNOMEDCT_US:162352007
xref: SNOMEDCT_US:60862001
xref: UMLS:C0040264
is_a: HP:0000364 ! Hearing abnormality

[Term]
id: HP:0000361
name: obsolete Pulsatile tinnitus (tympanic paraganglioma)
is_obsolete: true
replaced_by: HP:0008629

[Term]
id: HP:0000362
name: Otosclerosis
def: "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss." [HPO:probinson, pmid:15931303]
comment: Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing.
subset: hposlim_core
xref: MSH:D010040
xref: SNOMEDCT_US:11543004
xref: UMLS:C0029899
is_a: HP:0008628 ! Abnormality of the stapes

[Term]
id: HP:0000363
name: Abnormality of earlobe
def: "An abnormality of the lobule of pinna." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal earlobe" EXACT layperson []
synonym: "Abnormal lobe of ear" EXACT []
synonym: "Abnormality of auricular lobule" EXACT []
synonym: "Abnormality of ear lobe" EXACT layperson []
synonym: "Abnormality of earlobe" EXACT layperson []
synonym: "Abnormality of lobulus auriculae" EXACT []
xref: UMLS:C4021808
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0000364
name: Hearing abnormality
def: "An abnormality of the sensory perception of sound." [HPO:probinson]
comment: According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear.
synonym: "Abnormal hearing" EXACT layperson [HPO:skoehler]
synonym: "Hearing abnormality" EXACT layperson []
xref: UMLS:C4025860
is_a: HP:0031704 ! Abnormal ear physiology

[Term]
id: HP:0000365
name: Hearing impairment
alt_id: HP:0000404
alt_id: HP:0001728
alt_id: HP:0001729
alt_id: HP:0001754
alt_id: HP:0008560
alt_id: HP:0008563
def: "A decreased magnitude of the sensory perception of sound." [HPO:probinson]
comment: Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing.
synonym: "Congenital deafness" EXACT []
synonym: "Congenital hearing loss" EXACT []
synonym: "Deafness" EXACT layperson []
synonym: "Hearing defect" EXACT layperson []
synonym: "Hearing impairment" EXACT layperson []
synonym: "Hearing loss" RELATED layperson []
synonym: "Hypoacusis" RELATED []
xref: Fyler:4868
xref: MSH:D003638
xref: MSH:D034381
xref: SNOMEDCT_US:103276001
xref: SNOMEDCT_US:15188001
xref: SNOMEDCT_US:343087000
xref: SNOMEDCT_US:95828007
xref: UMLS:C0011053
xref: UMLS:C0018772
xref: UMLS:C0339789
xref: UMLS:C1384666
is_a: HP:0000364 ! Hearing abnormality

[Term]
id: HP:0000366
name: Abnormality of the nose
def: "An abnormality of the nose." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the nose" EXACT layperson []
synonym: "Anomaly of the nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal abnormality" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal anomaly" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Nasal deformity" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal malformation" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:128274005
xref: SNOMEDCT_US:72089000
xref: UMLS:C0240547
xref: UMLS:C0265736
xref: UMLS:C2235909
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000368
name: Low-set, posteriorly rotated ears
def: "Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358)." [HPO:probinson]
comment: This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately.
synonym: "Low-set posteriorly rotated ears" EXACT []
xref: UMLS:C1857486
is_a: HP:0000358 ! Posteriorly rotated ears
is_a: HP:0000369 ! Low-set ears

[Term]
id: HP:0000369
name: Low-set ears
def: "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, pmid:19152421]
subset: hposlim_core
synonym: "Low set ears" EXACT layperson []
synonym: "Low-set ears" EXACT layperson []
synonym: "Lowset ears" EXACT layperson []
synonym: "Melotia" EXACT []
xref: SNOMEDCT_US:95515009
xref: UMLS:C0239234
is_a: HP:0000357 ! Abnormal location of ears

[Term]
id: HP:0000370
name: Abnormality of the middle ear
def: "An abnormality of the middle ear." [HPO:probinson]
subset: hposlim_core
synonym: "Middle ear abnormalities" EXACT []
synonym: "Middle ear abnormality" EXACT []
xref: UMLS:C1861141
is_a: HP:0031703 ! Abnormal ear morphology

[Term]
id: HP:0000371
name: Acute otitis media
def: "Acute otitis media is a short and generally painful infection of the middle ear." [HPO:probinson]
synonym: "Acute middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:3110003
xref: UMLS:C0271429
is_a: HP:0000388 ! Otitis media

[Term]
id: HP:0000372
name: Abnormality of the auditory canal
def: "An abnormality of the External acoustic tube (also known as the auditory canal)." [HPO:probinson]
synonym: "Auditory canal abnormality" EXACT []
xref: UMLS:C4021807
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0000375
name: Abnormal cochlea morphology
def: "An abnormality of the cochlea." [HPO:probinson]
comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain.
synonym: "Abnormality of cochlea" EXACT []
xref: UMLS:C4025858
is_a: HP:0011390 ! Morphological abnormality of the inner ear

[Term]
id: HP:0000376
name: Incomplete partition of the cochlea type II
def: "IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation." [HPO:probinson, PMID:21849370]
synonym: "Mondini malformation" RELATED []
xref: UMLS:C1857078
xref: UMLS:C4025857
is_a: HP:0011373 ! Incomplete partition of the cochlea

[Term]
id: HP:0000377
name: Abnormality of the pinna
alt_id: HP:0000390
alt_id: HP:0000398
alt_id: HP:0004465
alt_id: HP:0008562
alt_id: HP:0008566
alt_id: HP:0008567
alt_id: HP:0008580
alt_id: HP:0008582
alt_id: HP:0008602
def: "An abnormality of the pinna, which is also referred to as the auricle or external ear." [HPO:probinson]
comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance.
synonym: "Abnormal form of ears" EXACT []
synonym: "Abnormally shaped ears" EXACT layperson []
synonym: "Auricular malformation" EXACT layperson []
synonym: "Deformed auricles" EXACT []
synonym: "Deformed ears" EXACT layperson []
synonym: "Dysplastic ears" EXACT []
synonym: "Malformation of auricle" EXACT []
synonym: "Malformed auricles" EXACT []
synonym: "Malformed ears" EXACT layperson []
synonym: "Malformed external ears" EXACT []
synonym: "Minor malformation of the auricles" EXACT []
synonym: "Poorly defined conchae" EXACT []
synonym: "Simple ears" EXACT layperson []
xref: SNOMEDCT_US:253255002
xref: UMLS:C0431483
xref: UMLS:C0857379
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0000378
name: Cupped ear
alt_id: HP:0008531
alt_id: HP:0008600
def: "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [HPO:probinson, pmid:19162421]
subset: hposlim_core
synonym: "Capuchin ears" RELATED []
synonym: "Cup-shaped ears" EXACT layperson []
synonym: "Cupped ear" EXACT layperson []
synonym: "Cupped ears" RELATED [HPO:skoehler]
synonym: "Simple, cup-shaped ears" EXACT layperson []
xref: UMLS:C1845447
xref: UMLS:C4020892
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0000381
name: Stapes ankylosis
def: "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)." [HPO:probinson, pmid:12089654]
comment: Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed.
subset: hposlim_core
xref: UMLS:C1861326
is_a: HP:0008628 ! Abnormality of the stapes

[Term]
id: HP:0000383
name: Abnormality of periauricular region
synonym: "Abnormality of the region around the ear" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the periauricular region" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the periauricular region" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the periauricular region" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025856
is_a: HP:0004426 ! Abnormality of the cheek

[Term]
id: HP:0000384
name: Preauricular skin tag
alt_id: HP:0008575
alt_id: HP:0100278
def: "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [HPO:probinson]
synonym: "Ear tag" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Periauricular skin tag" EXACT []
synonym: "Preauricular acrochordon" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Preauricular fibroepithelial polyp" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Preauricular skin tags" EXACT []
synonym: "Preauricular tag" EXACT []
synonym: "Preauricular tags" EXACT []
synonym: "Skin tag in front of the ear" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Skin tag on the posterior cheek" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1860816
xref: UMLS:C4072826
is_a: HP:0000383 ! Abnormality of periauricular region
is_a: HP:0010609 ! Skin tags

[Term]
id: HP:0000385
name: Small earlobe
alt_id: HP:0008616
def: "Reduced volume of the earlobe." [HPO:probinson, pmid:19152421]
comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable.
subset: hposlim_core
synonym: "Hypoplastic earlobes" EXACT []
synonym: "Hypoplastic lobules" EXACT []
synonym: "Small earlobe" EXACT layperson []
synonym: "Small earlobes" EXACT layperson [HPO:skoehler]
xref: UMLS:C1842680
is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes

[Term]
id: HP:0000387
name: Absent earlobe
def: "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura." [HPO:probinson, pmid:19152421]
subset: hposlim_core
synonym: "Absent ear lobes" EXACT []
synonym: "Absent earlobe" EXACT layperson []
synonym: "Earlobe, absent" EXACT layperson []
synonym: "Lobeless ears" EXACT layperson []
xref: UMLS:C1849364
is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes

[Term]
id: HP:0000388
name: Otitis media
def: "Inflammation or infection of the middle ear." [HPO:probinson]
synonym: "Middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D010033
xref: SNOMEDCT_US:65363002
xref: UMLS:C0029882
is_a: HP:0000370 ! Abnormality of the middle ear
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000389
name: Chronic otitis media
alt_id: HP:0008524
def: "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [HPO:probinson]
subset: hposlim_core
synonym: "Chronic ear infection" RELATED []
synonym: "Chronic infections of the middle ear" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Chronic middle ear infection" RELATED layperson []
synonym: "Otitis media, chronic" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:21186006
xref: UMLS:C0271441
xref: UMLS:C0743359
is_a: HP:0000388 ! Otitis media

[Term]
id: HP:0000391
name: Thickened helices
def: "Increased thickness of the helix of the ear." [HPO:probinson]
subset: hposlim_core
synonym: "Thick helix" EXACT []
xref: UMLS:C1837732
is_a: HP:0011039 ! Abnormality of the helix

[Term]
id: HP:0000394
name: Lop ear
def: "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." [HPO:probinson, pmid:19152421]
comment: The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal.
subset: hposlim_core
xref: SNOMEDCT_US:76223006
xref: UMLS:C0266614
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0000395
name: Prominent antihelix
def: "The presence of an abnormally prominent antihelix." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C1845272
is_a: HP:0009738 ! Abnormality of the antihelix

[Term]
id: HP:0000396
name: Overfolded helix
alt_id: HP:0001758
alt_id: HP:0008570
def: "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [HPO:probinson, pmid:19152421]
comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable.
subset: hposlim_core
synonym: "Over-folded helices" EXACT []
synonym: "Overfolded ears" EXACT layperson []
synonym: "Overfolded helices" EXACT []
xref: UMLS:C1837731
is_a: HP:0008544 ! Abnormally folded helix

[Term]
id: HP:0000399
name: Prelingual sensorineural hearing impairment
alt_id: HP:0001731
def: "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech." [HPO:probinson]
synonym: "Deafness, sensorineural, prelingual" EXACT []
synonym: "Prelingual sensorineural deafness" EXACT []
xref: UMLS:C4021806
is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment

[Term]
id: HP:0000400
name: Macrotia
alt_id: HP:0000382
alt_id: HP:0000386
alt_id: HP:0000401
alt_id: HP:0001755
def: "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [pmid:19152421]
comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used.
subset: hposlim_core
synonym: "Large ears" EXACT layperson []
synonym: "Large pinnae" EXACT []
xref: SNOMEDCT_US:275480001
xref: SNOMEDCT_US:69056000
xref: UMLS:C0152421
xref: UMLS:C0554972
xref: UMLS:C1835581
xref: UMLS:C1848570
xref: UMLS:C1850189
xref: UMLS:C1855062
xref: UMLS:C1860838
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0000402
name: Stenosis of the external auditory canal
alt_id: HP:0000373
def: "An abnormal narrowing of the external auditory canal." [HPO:probinson]
subset: hposlim_core
synonym: "External auditory canal stenosis" EXACT []
synonym: "Narrow auditory canals" EXACT []
synonym: "Narrow ear canal" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Narrow external auditory canals" EXACT []
synonym: "Narrow external auditory meatus" EXACT []
synonym: "Narrowing of passageway from outer ear to middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Stenotic external auditory canal" EXACT []
xref: SNOMEDCT_US:300127002
xref: SNOMEDCT_US:301061006
xref: UMLS:C0395837
xref: UMLS:C0576860
is_a: HP:0000372 ! Abnormality of the auditory canal

[Term]
id: HP:0000403
name: Recurrent otitis media
alt_id: HP:0008622
alt_id: HP:0008623
alt_id: HP:0008624
def: "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [HPO:probinson]
synonym: "Frequent otitis media" EXACT []
synonym: "Multiple episodes of otitis media" EXACT []
synonym: "Otitis media, recurrent" EXACT [HPO:skoehler]
synonym: "Recurrent episodes of otitis media" EXACT []
synonym: "Recurrent middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Susceptibility to otitis media" EXACT []
xref: UMLS:C0747085
is_a: HP:0000388 ! Otitis media
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0000405
name: Conductive hearing impairment
alt_id: HP:0000367
alt_id: HP:0008581
def: "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [HPO:probinson]
comment: A conductive hearing impariment with greater than 90 dB loss.
subset: hposlim_core
synonym: "Conduction deafness" EXACT []
synonym: "Conductive deafness" EXACT layperson []
synonym: "Conductive hearing loss" EXACT layperson []
synonym: "Hearing loss, conductive" EXACT []
xref: MSH:D006314
xref: SNOMEDCT_US:44057004
xref: UMLS:C0018777
is_a: HP:0000365 ! Hearing impairment
is_a: HP:0011452 ! Functional abnormality of the middle ear

[Term]
id: HP:0000407
name: Sensorineural hearing impairment
alt_id: HP:0000374
alt_id: HP:0001753
alt_id: HP:0001916
alt_id: HP:0008538
alt_id: HP:0008553
alt_id: HP:0008565
alt_id: HP:0008576
alt_id: HP:0008611
alt_id: HP:0008613
alt_id: HP:0008614
def: "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson]
comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).
subset: hposlim_core
synonym: "Hearing loss, sensorineural" EXACT [HPO:skoehler]
synonym: "Sensorineural deafness" EXACT []
synonym: "Sensorineural hearing loss" EXACT []
xref: MSH:D006319
xref: SNOMEDCT_US:60700002
xref: UMLS:C0018784
is_a: HP:0000365 ! Hearing impairment
is_a: HP:0011389 ! Functional abnormality of the inner ear

[Term]
id: HP:0000408
name: Progressive sensorineural hearing impairment
alt_id: HP:0000397
alt_id: HP:0000406
alt_id: HP:0008592
alt_id: HP:0008601
alt_id: HP:0008617
def: "A progressive form of sensorineural hearing impairment." [HPO:probinson]
synonym: "Bilateral progressive sensorineural hearing loss" EXACT []
synonym: "Hearing loss, progressive sensorineural" EXACT []
synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT []
synonym: "Hearing loss, sensorineural, progressive" EXACT []
synonym: "Progressive bilateral sensorineural hearing loss" EXACT []
synonym: "Sensorineural hearing loss, progressive" EXACT []
xref: UMLS:C1843156
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0001730 ! Progressive hearing impairment

[Term]
id: HP:0000410
name: Mixed hearing impairment
def: "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment." [HPO:probinson]
synonym: "Hearing loss, mixed" EXACT layperson [HPO:skoehler]
synonym: "Mixed hearing impairment" EXACT layperson []
synonym: "Mixed hearing loss" EXACT layperson []
xref: MSH:D046089
xref: SNOMEDCT_US:77507001
xref: UMLS:C0155552
is_a: HP:0000405 ! Conductive hearing impairment
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0000411
name: Protruding ear
alt_id: HP:0000412
def: "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [pmid:19152421]
synonym: "Prominent ear" EXACT layperson []
synonym: "Prominent ears" EXACT layperson []
synonym: "Protruding ears" RELATED layperson [HPO:skoehler]
xref: SNOMEDCT_US:275478007
xref: UMLS:C1305420
xref: UMLS:C1855285
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0000413
name: Atresia of the external auditory canal
alt_id: HP:0008547
alt_id: HP:0008564
alt_id: HP:0008626
def: "Absence or failure to form of the external auditory canal." [HPO:probinson]
subset: hposlim_core
synonym: "Absent auditory canals" EXACT []
synonym: "Absent ear canal" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent external auditory canals" EXACT []
synonym: "Atresia of the external auditory canals" RELATED [HPO:skoehler]
synonym: "Atretic auditory canal" EXACT []
synonym: "Atretic auditory canals" EXACT []
synonym: "Atretic external auditory canal" EXACT []
synonym: "Atretic external auditory canals" EXACT []
synonym: "Auditory canal atresia" EXACT []
synonym: "External acoustic meatus atresia" EXACT []
synonym: "External auditory canal atresia" EXACT []
synonym: "External auditory meatal atresia" EXACT []
synonym: "External auditory meatus atresia" EXACT []
xref: UMLS:C1398325
xref: UMLS:C1840305
xref: UMLS:C1857079
xref: UMLS:C1866190
is_a: HP:0000372 ! Abnormality of the auditory canal

[Term]
id: HP:0000414
name: Bulbous nose
alt_id: HP:0000443
def: "Increased volume and globular shape of the anteroinferior aspect of the nose." [pmid:19152422]
comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip.
synonym: "Bulbous nasal tip" RELATED []
synonym: "Bulbous nose" EXACT layperson []
synonym: "Potato nose" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C538354
xref: UMLS:C0240543
xref: UMLS:C1834118
xref: UMLS:C1855751
is_a: HP:0000436 ! Abnormality of the nasal tip
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000415
name: Abnormality of the choanae
def: "Abnormality of the choanae (the posterior nasal apertures)." [HPO:curators]
xref: UMLS:C4025855
is_a: HP:0000366 ! Abnormality of the nose

[Term]
id: HP:0000417
name: Slender nose
synonym: "Slender nose" EXACT layperson []
xref: UMLS:C1857645
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000418
name: Narrow nasal ridge
def: "Decreased width of the nasal ridge." [pmid:19152422]
comment: This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately.
synonym: "Decreased width of dorsum of nose" EXACT []
synonym: "Decreased width of nasal dorsum" EXACT []
synonym: "Decreased width of nasal ridge" EXACT layperson []
synonym: "Narrow dorsum of nose" EXACT []
synonym: "Narrow nasal dorsum" EXACT []
synonym: "Narrow nasal ridge" EXACT layperson []
synonym: "Pinched nose" EXACT layperson []
synonym: "Thin dorsum of nose" EXACT []
synonym: "Thin nasal dorsum" EXACT []
synonym: "Thin nasal ridge" EXACT layperson []
xref: UMLS:C1837761
is_a: HP:0011119 ! Abnormality of the nasal dorsum

[Term]
id: HP:0000419
name: Abnormality of the nasal septum
def: "An abnormality of the nasal septum." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the nasal septum" EXACT layperson []
synonym: "Anomaly of nasal septum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of septum of nose" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:95433000
xref: UMLS:C0151790
is_a: HP:0000366 ! Abnormality of the nose

[Term]
id: HP:0000420
name: Short nasal septum
def: "Reduced superior to inferior length of the nasal septum." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased length of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased length of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short nasal septum" EXACT layperson []
synonym: "Short septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1844857
is_a: HP:0000419 ! Abnormality of the nasal septum

[Term]
id: HP:0000421
name: Epistaxis
def: "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose." [HPO:probinson]
synonym: "Bloody nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Frequent nosebleeds" EXACT layperson []
synonym: "Nose bleeding" EXACT layperson []
synonym: "Nosebleed" EXACT layperson []
xref: MSH:D004844
xref: SNOMEDCT_US:12441001
xref: SNOMEDCT_US:249366005
xref: UMLS:C0014591
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0000422
name: Abnormality of the nasal bridge
alt_id: HP:0000423
def: "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi." [HPO:probinson, pmid:19152422]
comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge.
subset: hposlim_core
synonym: "Abnormality of the bridge of the nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the nasal bridge" EXACT layperson []
synonym: "Abnormality of the nasal root" EXACT []
synonym: "Deformity of the bridge of the nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasal bridge" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the bridge of the nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasal bridge" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021805
is_a: HP:0000366 ! Abnormality of the nose

[Term]
id: HP:0000426
name: Prominent nasal bridge
alt_id: HP:0000432
alt_id: HP:0000442
alt_id: HP:0004498
alt_id: HP:0005287
def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [pmid:19152422]
comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately.
synonym: "Convex bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Convex nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Elevated nasal bridge" EXACT layperson []
synonym: "High nasal bridge" EXACT layperson []
synonym: "Prominent bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent nasal bridge" EXACT layperson []
synonym: "Prominent nasal root" EXACT layperson []
synonym: "Protruding bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Protruding nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1854113
xref: UMLS:C4230640
is_a: HP:0000422 ! Abnormality of the nasal bridge

[Term]
id: HP:0000429
name: Abnormality of the nasal alae
def: "An abnormality of the Ala of nose." [HPO:probinson, pmid:19152422]
comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris.
subset: hposlim_core
synonym: "Abnormality of the nasal ala" EXACT []
synonym: "Abnormality of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasal ala" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasal ala" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C2227020
xref: UMLS:C4021804
xref: UMLS:C4280631
xref: UMLS:C4280632
is_a: HP:0010938 ! Abnormality of the external nose

[Term]
id: HP:0000430
name: Underdeveloped nasal alae
alt_id: HP:0004497
alt_id: HP:0004507
alt_id: HP:0005276
alt_id: HP:0005277
alt_id: HP:0005286
def: "Thinned, deficient, or excessively arched ala nasi." [pmid:19152422]
comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed.
subset: hposlim_core
synonym: "Ala nasi, underdeveloped" EXACT []
synonym: "Alar cartilage hypoplasia" EXACT []
synonym: "Decreased size of nasal alae" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic alae nasae" EXACT []
synonym: "Hypoplastic alae nasi" EXACT []
synonym: "Hypoplastic alar cartilage" EXACT []
synonym: "Hypoplastic alar nasae" EXACT []
synonym: "Hypoplastic nares" EXACT []
synonym: "Hypoplastic nasal alae" EXACT []
synonym: "Hypoplastic nasal wings" EXACT []
synonym: "Hypoplastic nostrils" EXACT []
synonym: "Nasal cartilage hypoplasia" EXACT []
synonym: "Small nasal alae" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thin hypoplastic alae nasi" EXACT []
synonym: "Underdeveloped tissue around nostril" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1834055
is_a: HP:0000429 ! Abnormality of the nasal alae
is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose

[Term]
id: HP:0000431
name: Wide nasal bridge
alt_id: HP:0000424
alt_id: HP:0004500
alt_id: HP:0004504
alt_id: HP:0004650
alt_id: HP:0200139
def: "Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, pmid:19152422]
comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately.
synonym: "Broad flat nasal bridge" RELATED layperson [HPO:skoehler]
synonym: "Broad nasal bridge" EXACT layperson []
synonym: "Broad nasal root" EXACT layperson []
synonym: "Broadened nasal bridge" EXACT layperson []
synonym: "Increased breadth of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased breadth of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal bridge broad" EXACT layperson []
synonym: "Nasal bridge, wide" EXACT []
synonym: "Wide bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide nasal bridge" EXACT layperson []
synonym: "Widened nasal bridge" EXACT layperson []
xref: SNOMEDCT_US:249321001
xref: UMLS:C1839764
xref: UMLS:C1849367
is_a: HP:0000422 ! Abnormality of the nasal bridge

[Term]
id: HP:0000433
name: Abnormality of the nasal mucosa
synonym: "Abnormality of mucosa of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of mucous membrane of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of nasal mucous membrane" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the nasal mucosa" EXACT layperson []
xref: UMLS:C4025854
is_a: HP:0000366 ! Abnormality of the nose

[Term]
id: HP:0000434
name: Nasal mucosa telangiectasia
def: "Telangiectasia of the nasal mucosa." [HPO:probinson]
synonym: "Angioectasia of mucosa of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Angioectasia of mucous membrane of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Angioectasia of nasal mucous membrane" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Nasal mucous membrane telangiectasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Spider veins of mucosa of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Spider veins of mucous membrane of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Spider veins of nasal mucous membrane" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Telangiectasia of mucosa of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Telangiectasia of mucous membrane of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Telangiectasia of nasal mucous membrane" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025853
is_a: HP:0000433 ! Abnormality of the nasal mucosa
is_a: HP:0100579 ! Mucosal telangiectasiae

[Term]
id: HP:0000436
name: Abnormality of the nasal tip
def: "An abnormality of the nasal tip." [HPO:probinson, pmid:19152422]
comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane.
subset: hposlim_core
synonym: "Abnormality of the nasal tip" EXACT layperson []
synonym: "Abnormality of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025852
is_a: HP:0010938 ! Abnormality of the external nose

[Term]
id: HP:0000437
name: Depressed nasal tip
alt_id: HP:0005279
def: "Decreased distance from the nasal tip to the nasal base." [pmid:19152422]
comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately.
subset: hposlim_core
synonym: "Caved in nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Depressed nasal tip" EXACT layperson []
synonym: "Depressed tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flat nasal tip" EXACT layperson []
synonym: "Flat tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flattened nasal tip" EXACT layperson []
synonym: "Nasal tip, depressed" EXACT layperson []
synonym: "Nasal tip, recessed" EXACT []
synonym: "Nasal tip, retruded" EXACT []
synonym: "Retruded tip of nose" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1859717
is_a: HP:0000436 ! Abnormality of the nasal tip

[Term]
id: HP:0000444
name: Convex nasal ridge
def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [pmid:19152422]
subset: hposlim_core
synonym: "Beaked nose" EXACT layperson []
synonym: "Beaklike protrusion" EXACT layperson []
synonym: "Convex dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Convex nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hooked nose" EXACT layperson []
synonym: "Polly beak nasal deformity" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0240538
is_a: HP:0011119 ! Abnormality of the nasal dorsum

[Term]
id: HP:0000445
name: Wide nose
alt_id: HP:0000438
def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [pmid:19152422]
subset: hposlim_core
synonym: "Broad nose" EXACT layperson []
synonym: "Increased breadth of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased nasal breadth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased nasal width" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide nose" EXACT layperson []
xref: SNOMEDCT_US:249321001
xref: UMLS:C0426421
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000446
name: Narrow nasal bridge
alt_id: HP:0100782
def: "Decreased width of the bony bridge of the nose." [pmid:19152422]
comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age.
subset: hposlim_core
synonym: "Narrow bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Narrow nasal bridge" EXACT layperson []
synonym: "Narrow nasal root" EXACT []
synonym: "Nasal Bridge, Narrow" EXACT layperson []
synonym: "Nasal bridge, thin" EXACT layperson []
synonym: "Pinched bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Pinched nasal bridge" RELATED layperson []
xref: SNOMEDCT_US:249322008
xref: UMLS:C0426422
xref: UMLS:C4020891
xref: UMLS:C4280630
is_a: HP:0000422 ! Abnormality of the nasal bridge

[Term]
id: HP:0000447
name: Pear-shaped nose
synonym: "Pear-shaped nose" EXACT layperson []
xref: UMLS:C1853482
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000448
name: Prominent nose
alt_id: HP:0000461
alt_id: HP:0005271
alt_id: HP:0200140
def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [pmid:19152422]
subset: hposlim_core
synonym: "Big nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Disproportionately large nose" EXACT layperson []
synonym: "Hyperplasia of nose" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of nose" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased nasal size" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased size of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large nose" EXACT layperson []
synonym: "Nasal hyperplasia" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Nasal hypertrophy" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Prominent nose" EXACT layperson []
synonym: "Pronounced nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249311009
xref: UMLS:C0426415
xref: UMLS:C1400105
xref: UMLS:C4280629
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000451
name: Triangular nasal tip
synonym: "Triangular nasal tip" EXACT layperson []
synonym: "Triangular shaped tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1839765
is_a: HP:0000436 ! Abnormality of the nasal tip

[Term]
id: HP:0000452
name: Choanal stenosis
def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:probinson]
subset: hposlim_core
synonym: "Coanal stenosis" EXACT []
synonym: "Narrowing of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:306963008
xref: UMLS:C0584837
is_a: HP:0000415 ! Abnormality of the choanae

[Term]
id: HP:0000453
name: Choanal atresia
alt_id: HP:0000416
alt_id: HP:0004503
def: "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:probinson]
subset: hposlim_core
synonym: "Blockage of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Obstruction of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: Fyler:4203
xref: MSH:D002754
xref: SNOMEDCT_US:204508009
xref: UMLS:C0008297
is_a: HP:0000415 ! Abnormality of the choanae

[Term]
id: HP:0000454
name: Flared nostrils
synonym: "Flared nasal alae" EXACT []
synonym: "Flared nostrils" EXACT layperson []
xref: SNOMEDCT_US:21558008
xref: SNOMEDCT_US:248568003
xref: UMLS:C0277873
is_a: HP:0000429 ! Abnormality of the nasal alae

[Term]
id: HP:0000455
name: Broad nasal tip
alt_id: HP:0004501
alt_id: HP:0005269
def: "Increase in width of the nasal tip." [HPO:probinson, pmid:19152422]
comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term.
synonym: "Broad nasal tip" EXACT layperson []
synonym: "Broad tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Broad upturned nose" RELATED layperson []
synonym: "Broad, upturned nose" EXACT layperson []
synonym: "Increased breadth of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased breadth of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal tip, broad" EXACT layperson []
synonym: "Nasal tip, wide" EXACT layperson []
synonym: "Wide tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249327002
xref: UMLS:C0426429
is_a: HP:0000436 ! Abnormality of the nasal tip
is_a: HP:0000463 ! Anteverted nares

[Term]
id: HP:0000456
name: Bifid nasal tip
alt_id: HP:0005282
def: "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [HPO:sdoelken, pmid:19152422]
comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
synonym: "Bifid tip of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Cleft tip of nose" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Notched nasal tip" RELATED layperson []
synonym: "Notched tip of nose" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249326006
xref: UMLS:C0426428
xref: UMLS:C4020890
is_a: HP:0000436 ! Abnormality of the nasal tip

[Term]
id: HP:0000457
name: Depressed nasal ridge
def: "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [HPO:probinson, pmid:19152422]
comment: The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately.
subset: hposlim_core
synonym: "Depressed dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Depressed nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flat dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flat nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flat nose" EXACT layperson []
synonym: "Recessed dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Recessed nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Recessed nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Retruded dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Retruded nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Retruded nasal ridge" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1842876
is_a: HP:0011119 ! Abnormality of the nasal dorsum

[Term]
id: HP:0000458
name: Anosmia
def: "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:probinson]
subset: hposlim_core
synonym: "Lost smell" EXACT layperson []
xref: MSH:D000857
xref: SNOMEDCT_US:44169009
xref: UMLS:C0003126
is_a: HP:0004408 ! Abnormality of the sense of smell

[Term]
id: HP:0000460
name: Narrow nose
def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [pmid:19152422]
comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately.
synonym: "Decreased nasal breadth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased nasal width" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Narrow nose" EXACT layperson []
synonym: "Thin nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249322008
xref: UMLS:C0426422
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0000463
name: Anteverted nares
alt_id: HP:0000427
alt_id: HP:0000435
alt_id: HP:0000441
def: "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [pmid:19152422]
comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed.
synonym: "Anteverted nose" EXACT []
synonym: "Anteverted nostrils" EXACT []
synonym: "Nasal tip, upturned" EXACT layperson []
synonym: "Nostrils anteverted" EXACT []
synonym: "Upturned nares" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Upturned nasal tip" EXACT layperson []
synonym: "Upturned nasal tips" RELATED [HPO:skoehler]
synonym: "Upturned nose" EXACT layperson []
synonym: "Upturned nostrils" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:708670007
xref: UMLS:C1840077
is_a: HP:0000429 ! Abnormality of the nasal alae
is_a: HP:0005105 ! Abnormal nasal morphology
is_a: HP:0005288 ! Abnormality of the nares

[Term]
id: HP:0000464
name: Abnormality of the neck
def: "An abnormality of the neck." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the neck" EXACT layperson []
synonym: "Anomaly of the neck" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the neck" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the neck" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:298390003
xref: SNOMEDCT_US:40052002
xref: UMLS:C0266623
xref: UMLS:C0575167
xref: UMLS:C4280628
is_a: HP:0000152 ! Abnormality of head or neck

[Term]
id: HP:0000465
name: Webbed neck
def: "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [HPO:probinson, pmid:24523736]
subset: hposlim_core
synonym: "Neck webbing" EXACT layperson []
synonym: "Pterygium colli" EXACT []
synonym: "Webbed neck" EXACT layperson []
xref: SNOMEDCT_US:11731003
xref: UMLS:C0221217
is_a: HP:0000464 ! Abnormality of the neck

[Term]
id: HP:0000466
name: Limited neck range of motion
synonym: "Limited cervical range of motion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Limited neck range of motion" EXACT layperson []
xref: UMLS:C1859212
is_a: HP:0005986 ! Limitation of neck motion

[Term]
id: HP:0000467
name: Neck muscle weakness
def: "Decreased strength of the neck musculature." [HPO:probinson]
synonym: "Flaccid neck" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Floppy neck" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Neck muscle weakness" EXACT layperson []
xref: UMLS:C0240479
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0011006 ! Abnormality of the musculature of the neck

[Term]
id: HP:0000468
name: Increased adipose tissue around the neck
def: "An increased amount of subcutaneous fat tissue around the neck." [HPO:probinson]
synonym: "Increased fat around the neck" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025850
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0009126 ! Increased adipose tissue

[Term]
id: HP:0000470
name: Short neck
alt_id: HP:0005992
alt_id: HP:0200137
def: "Diminished length of the neck." [HPO:probinson]
subset: hposlim_core
synonym: "Cervical shortening" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased cervical height" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased cervical length" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased length of neck" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short neck" EXACT layperson []
xref: SNOMEDCT_US:95427009
xref: UMLS:C0521525
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0000471
name: Gastrointestinal angiodysplasia
def: "Dysplasia affecting the vasculature of the gastrointestinal tract." [HPO:probinson]
synonym: "GI angiodysplasia" EXACT HP:0045077 []
xref: UMLS:C0854242
is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature

[Term]
id: HP:0000472
name: Long neck
def: "Increased inferior-superior length of the neck." [HPO:probinson]
subset: hposlim_core
synonym: "Cervical elongation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Elongated neck" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased cervical length" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased length of neck" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long neck" EXACT layperson []
xref: UMLS:C1839816
is_a: HP:0000464 ! Abnormality of the neck

[Term]
id: HP:0000473
name: Torticollis
def: "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [HPO:probinson]
comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia.
synonym: "Cervical dystonia" EXACT []
synonym: "Loxia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Spasmodic torticollis" EXACT []
synonym: "Wry neck" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D014103
xref: SNOMEDCT_US:270476009
xref: SNOMEDCT_US:70070008
xref: SNOMEDCT_US:74333002
xref: UMLS:C0040485
xref: UMLS:C0152116
xref: UMLS:C0949445
is_a: HP:0011006 ! Abnormality of the musculature of the neck
is_a: HP:0011442 ! Abnormality of central motor function
is_a: HP:0012179 ! Craniofacial dystonia

[Term]
id: HP:0000474
name: Thickened nuchal skin fold
alt_id: HP:0000477
def: "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637)." [HPO:probinson, pmid:16100637]
comment: A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org).
subset: hposlim_core
synonym: "Excess nuchal skin" EXACT []
synonym: "Thickened nuchal skin" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thickened skin folds of neck" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thickened skin over the neck" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1836940
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0011425 ! Fetal ultrasound soft marker

[Term]
id: HP:0000475
name: Broad neck
def: "Increased side-to-side width of the neck." [HPO:probinson]
subset: hposlim_core
synonym: "Broad neck" EXACT layperson []
synonym: "Increased width of neck" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick neck" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide neck" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1853638
is_a: HP:0000464 ! Abnormality of the neck

[Term]
id: HP:0000476
name: Cystic hygroma
def: "A cystic lymphatic lesion of the neck." [HPO:probinson]
comment: Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck.
synonym: "Cystic hygroma of the neck" EXACT []
xref: MSH:D018191
xref: NCIT:C8965
xref: SNOMEDCT_US:399882002
xref: SNOMEDCT_US:40225001
xref: SNOMEDCT_US:423984004
xref: UMLS:C0206620
is_a: HP:0000464 ! Abnormality of the neck

[Term]
id: HP:0000478
name: Abnormality of the eye
def: "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal eye" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the eye" EXACT layperson []
synonym: "Eye disease" RELATED layperson []
xref: MSH:D005124
xref: MSH:D005128
xref: SNOMEDCT_US:19416009
xref: SNOMEDCT_US:371405004
xref: SNOMEDCT_US:371409005
xref: UMLS:C0015393
xref: UMLS:C0015397
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000479
name: Abnormal retinal morphology
alt_id: HP:0007938
def: "A structural abnormality of the retina." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal retina" EXACT [HPO:skoehler]
synonym: "Abnormality of the retina" EXACT []
synonym: "Anomaly of the retina" EXACT []
synonym: "Retina issue" EXACT layperson []
synonym: "Retinal disease" RELATED []
xref: MSH:D012164
xref: SNOMEDCT_US:29555009
xref: UMLS:C0035300
xref: UMLS:C0035309
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0000480
name: Retinal coloboma
alt_id: HP:0007808
def: "A notch or cleft of the retina." [HPO:probinson]
subset: hposlim_core
synonym: "Hole in the back of the eye" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: SNOMEDCT_US:39302008
xref: UMLS:C0240896
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0000481
name: Abnormal cornea morphology
alt_id: HP:0007771
alt_id: HP:0007972
def: "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the cornea" EXACT []
synonym: "Corneal abnormalities" EXACT []
synonym: "Corneal abnormality" EXACT []
synonym: "Cornela disease" RELATED []
xref: UMLS:C1855670
xref: UMLS:C4020889
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0000482
name: Microcornea
alt_id: HP:0100688
def: "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
comment: Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood.
subset: hposlim_core
synonym: "Cornea of eye less than 10mm in diameter" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Decreased corneal diameter" EXACT []
xref: SNOMEDCT_US:26098002
xref: UMLS:C0266544
xref: UMLS:C1167713
is_a: HP:0001120 ! Abnormality of corneal size

[Term]
id: HP:0000483
name: Astigmatism
def: "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123]
comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision.
subset: hposlim_core
synonym: "Abnormal curving of the cornea or lens of the eye" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D001251
xref: SNOMEDCT_US:82649003
xref: UMLS:C0004106
is_a: HP:0000539 ! Abnormality of refraction
is_a: HP:0100691 ! Abnormality of the curvature of the cornea

[Term]
id: HP:0000484
name: Hyperopic astigmatism
def: "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error." [HPO:probinson]
xref: SNOMEDCT_US:449734001
xref: UMLS:C1847524
is_a: HP:0000483 ! Astigmatism

[Term]
id: HP:0000485
name: Megalocornea
alt_id: HP:0007660
def: "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators]
subset: hposlim_core
synonym: "Anterior megalophthalmos" EXACT []
synonym: "Enlarged cornea" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased corneal diameter" EXACT []
synonym: "Macrocornea" EXACT []
xref: MSH:C562829
xref: SNOMEDCT_US:204118005
xref: SNOMEDCT_US:268158009
xref: UMLS:C0344530
xref: UMLS:C1167712
is_a: HP:0001120 ! Abnormality of corneal size

[Term]
id: HP:0000486
name: Strabismus
alt_id: HP:0000487
def: "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis]
subset: hposlim_core
synonym: "Cross-eyed" EXACT layperson []
synonym: "Squint" EXACT layperson []
synonym: "Squint eyes" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: MSH:D013285
xref: SNOMEDCT_US:128602000
xref: SNOMEDCT_US:22066006
xref: UMLS:C0038379
is_a: HP:0000549 ! Abnormal conjugate eye movement

[Term]
id: HP:0000487
name: obsolete Congenital strabismus
is_obsolete: true
replaced_by: HP:0000486

[Term]
id: HP:0000488
name: Retinopathy
def: "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [HPO:probinson]
subset: hposlim_core
synonym: "Noninflammatory retina disease" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012164
xref: SNOMEDCT_US:29555009
xref: UMLS:C0035309
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0000489
name: obsolete Abnormality of globe location or size
is_obsolete: true
consider: HP:0100886
consider: HP:0100887

[Term]
id: HP:0000490
name: Deeply set eye
alt_id: HP:0000663
def: "An eye that is more deeply recessed into the plane of the face than is typical." [pmid:19125427]
comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer.
subset: hposlim_core
synonym: "Deep set eye" EXACT layperson []
synonym: "Deep-set eyes" EXACT layperson []
synonym: "Deeply set eye" EXACT layperson []
synonym: "Enophthalmos" EXACT []
synonym: "Ocular depression" EXACT []
synonym: "Sunken eye" EXACT layperson []
synonym: "Sunken eyes" EXACT []
xref: MSH:D015841
xref: SNOMEDCT_US:246923005
xref: SNOMEDCT_US:80093006
xref: UMLS:C0014306
xref: UMLS:C0423224
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0000491
name: Keratitis
def: "Inflammation of the cornea." [HPO:curators]
subset: hposlim_core
synonym: "Corneal inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D007634
xref: SNOMEDCT_US:5888003
xref: UMLS:C0022568
is_a: HP:0011495 ! Abnormal corneal epithelium morphology
is_a: HP:0100533 ! Inflammatory abnormality of the eye

[Term]
id: HP:0000492
name: Abnormal eyelid morphology
alt_id: HP:0000285
def: "An abnormality of the eyelids." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the eyelid" EXACT layperson []
synonym: "Abnormality of the eyelids" EXACT layperson []
xref: UMLS:C4021803
is_a: HP:0030669 ! Abnormal ocular adnexa morphology

[Term]
id: HP:0000493
name: Abnormal foveal morphology
def: "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." [HPO:probinson]
synonym: "Abnormality of the fovea" EXACT []
xref: UMLS:C4025849
is_a: HP:0001103 ! Abnormal macular morphology
created_by: peter
creation_date: 2008-04-02T01:29:00Z

[Term]
id: HP:0000494
name: Downslanted palpebral fissures
alt_id: HP:0007714
alt_id: HP:0007908
def: "The palpebral fissure inclination is more than two standard deviations below the mean." [pmid:19125427]
subset: hposlim_core
synonym: "Antimongoloid eye slant" EXACT []
synonym: "Antimongoloid slant of palpebral fissures" EXACT []
synonym: "Antimongoloid slanted palpebral fissures" EXACT []
synonym: "Down slanting palpebral fissures" EXACT []
synonym: "Down-slanted palpebral fissures" EXACT []
synonym: "Down-slanting palpebral fissure" EXACT []
synonym: "Down-slanting palpebral fissures" EXACT []
synonym: "Downslanting palpebral fissure" EXACT []
synonym: "Downslanting palpebral fissures" EXACT [HPO:skoehler]
synonym: "Downward slanted palpebral fissures" EXACT []
synonym: "Downward slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Downward slanting palpebral fissures" EXACT [HPO:skoehler]
synonym: "Downward-slanting palpebral fissures" EXACT []
synonym: "Palpebral fissures down-slanted" EXACT []
xref: SNOMEDCT_US:246800008
xref: UMLS:C0423110
is_a: HP:0200006 ! Slanting of the palpebral fissure

[Term]
id: HP:0000495
name: Recurrent corneal erosions
alt_id: HP:0007674
alt_id: HP:0007749
def: "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators]
synonym: "Corneal erosions, recurrent" EXACT []
synonym: "Corneal ulcerations" EXACT []
synonym: "Epithelial corneal erosions" RELATED []
synonym: "Recurrent breakdown of clear protective layer of eye" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Recurrent corneal ulceration" EXACT []
synonym: "Recurrent corneal ulcerations" RELATED [HPO:skoehler]
xref: MSH:D003320
xref: SNOMEDCT_US:2055003
xref: SNOMEDCT_US:91514001
xref: UMLS:C0010043
xref: UMLS:C0155119
xref: UMLS:C4020888
is_a: HP:0200020 ! Corneal erosion

[Term]
id: HP:0000496
name: Abnormality of eye movement
alt_id: HP:0006860
def: "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal extraocular movement" EXACT []
synonym: "Abnormal extraocular movements" EXACT []
synonym: "Abnormal eye motility" EXACT []
synonym: "Abnormal eye movement" EXACT layperson []
synonym: "Abnormal eye movements" EXACT layperson []
synonym: "Abnormal motility of the globe of the eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Abnormal movement of the globe of the eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Abnormal ocular movements" EXACT []
synonym: "Abnormality of eye movement" EXACT layperson []
synonym: "Eye movement abnormalities" EXACT layperson []
synonym: "Eye movement issue" EXACT layperson []
synonym: "Ocular movement abnormalities" EXACT []
synonym: "Oculomotor abnormalities" EXACT []
xref: SNOMEDCT_US:103252009
xref: UMLS:C0497202
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000497
name: Globe retraction and deviation on abduction
xref: UMLS:C4025848
is_a: HP:0011347 ! Abnormality of ocular abduction

[Term]
id: HP:0000498
name: Blepharitis
def: "Inflammation of the eyelids." [HPO:probinson]
subset: hposlim_core
synonym: "Cellulitis of eyelids" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Inflammation of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D001762
xref: SNOMEDCT_US:231796003
xref: SNOMEDCT_US:41446000
xref: UMLS:C0005741
xref: UMLS:C0339063
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0100533 ! Inflammatory abnormality of the eye

[Term]
id: HP:0000499
name: Abnormal eyelash morphology
alt_id: HP:0004530
def: "An abnormality of the eyelashes." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal eyelashes" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the eyelashes" EXACT layperson []
synonym: "Eyelash abnormality" EXACT layperson []
xref: UMLS:C2675111
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0001595 ! Abnormal hair morphology

[Term]
id: HP:0000501
name: Glaucoma
def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, pmid:11815354]
comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population.
subset: hposlim_core
xref: MSH:D005901
xref: SNOMEDCT_US:23986001
xref: UMLS:C0017601
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000502
name: Abnormal conjunctiva morphology
def: "An abnormality of the conjunctiva." [HPO:curators]
comment: The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva).
subset: hposlim_core
xref: UMLS:C4025847
is_a: HP:0030669 ! Abnormal ocular adnexa morphology

[Term]
id: HP:0000503
name: Tortuosity of conjunctival vessels
def: "The presence of an increased number of twists and turns of the conjunctival blood vessels." [HPO:probinson]
xref: UMLS:C1855391
is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature

[Term]
id: HP:0000504
name: Abnormality of vision
def: "Abnormality of eyesight (visual perception)." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of sight" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Abnormality of vision" EXACT layperson []
synonym: "Vision issue" EXACT layperson []
xref: UMLS:C4025846
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000505
name: Visual impairment
alt_id: HP:0000516
alt_id: HP:0000566
alt_id: HP:0007758
alt_id: HP:0007860
alt_id: HP:0007983
def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [DDD:gblack]
subset: hposlim_core
synonym: "Impaired vision" EXACT layperson []
synonym: "Loss of eyesight" EXACT layperson []
synonym: "Poor vision" EXACT layperson []
synonym: "Visual impairment" EXACT layperson []
xref: MSH:D014786
xref: MSH:D015354
xref: SNOMEDCT_US:246635007
xref: SNOMEDCT_US:397540003
xref: SNOMEDCT_US:7973008
xref: UMLS:C0042798
xref: UMLS:C3665347
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0000506
name: Telecanthus
def: "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [HPO:probinson]
comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced.
subset: hposlim_core
synonym: "Corners of eye widely separated" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Dystopia canthorum" EXACT []
synonym: "Increased distance between medial canthi" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased intercanthal distance" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:C562941
xref: SNOMEDCT_US:246803005
xref: UMLS:C0423113
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0000508
name: Ptosis
def: "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid:19125427]
subset: hposlim_core
synonym: "Blepharoptosis" EXACT []
synonym: "Drooping upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Eye drop" RELATED layperson []
synonym: "Eyelid ptosis" EXACT [HPO:skoehler]
xref: MSH:D001763
xref: SNOMEDCT_US:11934000
xref: UMLS:C0005745
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000509
name: Conjunctivitis
def: "Inflammation of the conjunctiva." [HPO:probinson]
subset: hposlim_core
synonym: "Conjunctivitis, recurrent" RELATED [HPO:skoehler]
synonym: "Pink eye" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D003231
xref: SNOMEDCT_US:9826008
xref: UMLS:C0009763
xref: UMLS:C1864156
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0025337 ! Red eye
is_a: HP:0100533 ! Inflammatory abnormality of the eye

[Term]
id: HP:0000510
name: Rod-cone dystrophy
alt_id: HP:0000547
alt_id: HP:0001127
alt_id: HP:0007635
alt_id: HP:0007645
alt_id: HP:0007742
alt_id: HP:0007816
alt_id: HP:0007826
alt_id: HP:0007927
alt_id: HP:0008036
def: "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [HPO:probinson, pmid:20212494]
comment: Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience.
subset: hposlim_core
synonym: "Retinitis pigmentosa" EXACT []
synonym: "Rod cone dystrophy" EXACT []
xref: MSH:D012174
xref: SNOMEDCT_US:28835009
xref: UMLS:C0035334
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0000511
name: Vertical supranuclear gaze palsy
def: "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson, pmid:20671861]
comment: Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze.
synonym: "Vertical gaze palsy" EXACT []
xref: SNOMEDCT_US:246773002
xref: UMLS:C0339652
xref: UMLS:C1843369
is_a: HP:0000605 ! Supranuclear gaze palsy

[Term]
id: HP:0000512
name: Abnormal electroretinogram
alt_id: HP:0003285
def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:probinson]
comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG.
subset: hposlim_core
synonym: "Abnormal electroretinography" EXACT []
synonym: "Abnormal ERG" EXACT []
synonym: "ERG abnormal" EXACT []
xref: SNOMEDCT_US:274524001
xref: UMLS:C0476397
is_a: HP:0030453 ! Abnormal visual electrophysiology

[Term]
id: HP:0000514
name: Slow saccadic eye movements
def: "An abnormally slow velocity of the saccadic eye movements." [HPO:probinson]
comment: Saccades are rapid eye movements that align the fovea with the target.
subset: hposlim_core
synonym: "Slow eye movements" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Slow saccades" EXACT []
synonym: "Slow visual tracking" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:404686001
xref: UMLS:C1321329
is_a: HP:0000570 ! Abnormal saccadic eye movements

[Term]
id: HP:0000517
name: Abnormality of the lens
def: "An abnormality of the lens." [HPO:probinson]
synonym: "Abnormality of the lens" EXACT layperson []
synonym: "Lens disease" RELATED layperson []
synonym: "Lens issue" EXACT layperson []
xref: MSH:D007905
xref: SNOMEDCT_US:10810001
xref: UMLS:C0023308
xref: UMLS:C0549651
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0000518
name: Cataract
alt_id: HP:0001113
alt_id: HP:0007825
alt_id: HP:0010700
def: "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson]
comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity).
subset: hposlim_core
synonym: "Cataracts" EXACT []
synonym: "Clouding of the lens of the eye" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Cloudy lens" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Lens opacities" EXACT []
synonym: "Lens opacity" EXACT []
xref: Fyler:4865
xref: MSH:D002386
xref: SNOMEDCT_US:128306009
xref: SNOMEDCT_US:193570009
xref: SNOMEDCT_US:247053007
xref: UMLS:C0086543
xref: UMLS:C1510497
is_a: HP:0000517 ! Abnormality of the lens

[Term]
id: HP:0000519
name: Developmental cataract
alt_id: HP:0001108
alt_id: HP:0007679
alt_id: HP:0007692
alt_id: HP:0007726
alt_id: HP:0007788
def: "A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens." [HPO:probinson]
comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy.
subset: hposlim_core
synonym: "Bilateral congenital cataracts" EXACT []
synonym: "Cataract, congenital" EXACT []
synonym: "Clouding of the lens of the eye at birth" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Congenital cataract" EXACT []
synonym: "Congenital cataracts" EXACT []
synonym: "Congenital cataracts, bilateral" EXACT []
xref: SNOMEDCT_US:609587005
xref: SNOMEDCT_US:79410001
xref: UMLS:C0009691
xref: UMLS:C3277059
is_a: HP:0000518 ! Cataract
is_a: HP:0007700 ! Ocular anterior segment dysgenesis

[Term]
id: HP:0000520
name: Proptosis
alt_id: HP:0000536
alt_id: HP:0000644
alt_id: HP:0000645
alt_id: HP:0007711
alt_id: HP:0007870
def: "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, pmid:19125427]
comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face.
subset: hposlim_core
synonym: "Anterior bulging of the globe" EXACT []
synonym: "Anterior bulging of the globe of eye" EXACT []
synonym: "Bulging eye" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Exophthalmos" EXACT []
synonym: "Eyeballs bulging out" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Ocular proptosis" EXACT []
synonym: "Prominent eyes" EXACT layperson []
synonym: "Prominent globes" EXACT layperson []
synonym: "Protruding eyes" EXACT layperson []
synonym: "Protrusio bulbi" EXACT []
xref: MSH:D005094
xref: SNOMEDCT_US:18265008
xref: UMLS:C0015300
xref: UMLS:C1837760
xref: UMLS:C1848490
xref: UMLS:C1862425
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0000522
name: Alacrima
def: "Absence of tear secretion." [HPO:probinson]
comment: Alacrima is generally a congenital deficiency.
subset: hposlim_core
synonym: "Absence of tears in the eyes" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Absent lacrimal fluids" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Absent tear secretion" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C562827
xref: SNOMEDCT_US:253215004
xref: UMLS:C0344505
is_a: HP:0000633 ! Decreased lacrimation

[Term]
id: HP:0000523
name: Subcapsular cataract
alt_id: HP:0001490
alt_id: HP:0007978
def: "A cataract that affects the region of the lens directly beneath the capsule of the lens." [HPO:probinson]
synonym: "Subcapsular cataracts" EXACT []
synonym: "Subcapsular lenticular cataracts" EXACT []
synonym: "Subcapsular opacities" EXACT []
xref: SNOMEDCT_US:95723009
xref: UMLS:C0235259
is_a: HP:0000518 ! Cataract

[Term]
id: HP:0000524
name: Conjunctival telangiectasia
def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:probinson]
subset: hposlim_core
synonym: "Conjunctival telangiectases" EXACT []
synonym: "Small dilated blood vessels near membrane covering front of eye and eyelids" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Telangiectasia, conjunctival" EXACT []
xref: SNOMEDCT_US:231870008
xref: UMLS:C0239105
is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature
is_a: HP:0100579 ! Mucosal telangiectasiae

[Term]
id: HP:0000525
name: Abnormality iris morphology
def: "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the iris" EXACT layperson []
xref: UMLS:C4025845
is_a: HP:0000553 ! Abnormal uvea morphology
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0000526
name: Aniridia
alt_id: HP:0011498
def: "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." [HPO:probinson, PMID:24138039, PMID:25313118, PMID:29850208, UManchester:psergouniotis]
subset: hposlim_core
synonym: "Absent iris" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D015783
xref: SNOMEDCT_US:69278003
xref: UMLS:C0003076
is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris

[Term]
id: HP:0000527
name: Long eyelashes
alt_id: HP:0000500
def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427, PMID:26288407]
comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes.
subset: hposlim_core
synonym: "Ciliary trichomegaly" EXACT []
synonym: "Eyelash trichomegaly" EXACT []
synonym: "Increased length of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long eyelashes" EXACT layperson []
synonym: "Unusually long eyelashes" EXACT layperson []
xref: UMLS:C1853738
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0000528
name: Anophthalmia
alt_id: HP:0001485
alt_id: HP:0007664
def: "Absence of the globe or eyeball." [DDD:ncarter]
subset: hposlim_core
synonym: "Absence of eyeballs" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of globes of eyes" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Anophthalmia, clinical" EXACT []
synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT []
synonym: "Failure of development of eyeball" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing eyeball" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Missing globe of eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "No eyeball" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "No globe of eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Ocular absence" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: Fyler:4864
xref: MSH:D000853
xref: SNOMEDCT_US:204099004
xref: SNOMEDCT_US:7183006
xref: UMLS:C0003119
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
is_a: HP:0100887 ! Abnormality of globe size

[Term]
id: HP:0000529
name: Progressive visual loss
alt_id: HP:0000560
alt_id: HP:0007735
alt_id: HP:0007753
alt_id: HP:0007967
def: "A reduction of previously attained ability to see." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased visual acuity, progressive" RELATED [HPO:skoehler]
synonym: "Loss of visual acuity" EXACT []
synonym: "Progressive loss of vision" EXACT layperson []
synonym: "Progressive vision loss" EXACT layperson []
synonym: "Progressive visual acuity loss" EXACT []
synonym: "Progressive visual impairment" EXACT layperson []
synonym: "Slowly progressive visual loss" EXACT layperson []
synonym: "Vision loss, progressive" EXACT layperson [HPO:skoehler]
synonym: "Visual loss, progressive" EXACT layperson []
xref: UMLS:C1839364
xref: UMLS:C3277697
is_a: HP:0000572 ! Visual loss

[Term]
id: HP:0000531
name: Corneal crystals
synonym: "Corneal deposits" EXACT []
xref: UMLS:C1096610
is_a: HP:0007759 ! Opacification of the corneal stroma

[Term]
id: HP:0000532
name: Abnormal chorioretinal morphology
alt_id: HP:0001145
alt_id: HP:0007888
def: "An abnormality of the choroid and retina." [HPO:probinson]
comment: The choroid is the vascular layer of the eye, located between the retina and the sclera.
synonym: "Chorioretinal abnormality" EXACT []
xref: UMLS:C4025844
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0000610 ! Abnormal choroid morphology

[Term]
id: HP:0000533
name: Chorioretinal atrophy
alt_id: HP:0001150
alt_id: HP:0007884
alt_id: HP:0007918
alt_id: HP:0007931
def: "Atrophy of the choroid and retinal layers of the fundus." [HPO:probinson, pmid:20224472]
comment: Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy.
synonym: "Chorioretinal thinning" EXACT []
xref: SNOMEDCT_US:95686007
xref: UMLS:C4048273
is_a: HP:0200065 ! Chorioretinal degeneration

[Term]
id: HP:0000534
name: Abnormal eyebrow morphology
def: "An abnormality of the eyebrow." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the eyebrow" EXACT layperson []
xref: UMLS:C4011556
is_a: HP:0001595 ! Abnormal hair morphology
is_a: HP:0030669 ! Abnormal ocular adnexa morphology

[Term]
id: HP:0000535
name: Sparse and thin eyebrow
alt_id: HP:0002222
alt_id: HP:0002554
alt_id: HP:0004520
alt_id: HP:0004551
def: "Decreased density/number and/or decreased diameter of eyebrow hairs." [pmid:19125427]
comment: Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate.
subset: hposlim_core
synonym: "Sparse and thin eyebrow" EXACT layperson []
synonym: "Thin, sparse eyebrows" EXACT layperson []
xref: UMLS:C1832446
is_a: HP:0045074 ! Thin eyebrow
is_a: HP:0045075 ! Sparse eyebrow

[Term]
id: HP:0000537
name: Epicanthus inversus
def: "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." [pmid:19125427]
subset: hposlim_core
xref: SNOMEDCT_US:400956000
xref: UMLS:C1303003
is_a: HP:0000286 ! Epicanthus

[Term]
id: HP:0000538
name: Pseudopapilledema
def: "Apparent optic disc swelling in the absence of increased intracranial pressure." [HPO:probinson]
comment: Papilledema is disc edema secondary to increased intracranial pressure.
subset: hposlim_core
xref: MSH:C562401
xref: SNOMEDCT_US:57138009
xref: UMLS:C0155300
is_a: HP:0012795 ! Abnormality of the optic disc

[Term]
id: HP:0000539
name: Abnormality of refraction
def: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [HPO:probinson]
xref: UMLS:C4025843
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000540
name: Hypermetropia
def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson]
comment: The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D).
subset: hposlim_core
synonym: "Farsightedness" EXACT layperson []
synonym: "Hyperopia" EXACT []
synonym: "Long-sightedness" EXACT layperson []
xref: MSH:D006956
xref: SNOMEDCT_US:38101003
xref: UMLS:C0020490
is_a: HP:0000539 ! Abnormality of refraction

[Term]
id: HP:0000541
name: Retinal detachment
alt_id: HP:0007864
alt_id: HP:0008021
def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [HPO:probinson]
subset: hposlim_core
synonym: "Detached retina" EXACT layperson []
synonym: "Retinal detachment" EXACT layperson []
xref: MSH:D012163
xref: SNOMEDCT_US:42059000
xref: UMLS:C0035305
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0000542
name: Impaired ocular adduction
def: "Reduced ability to move the eye in the direction of the nose." [HPO:probinson]
comment: Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement).
xref: UMLS:C1846463
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000543
name: Optic disc pallor
alt_id: HP:0001148
alt_id: HP:0001484
def: "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [HPO:probinson]
comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white.
subset: hposlim_core
synonym: "Disc pallor" RELATED [HPO:skoehler]
synonym: "Optic disk pallor" RELATED [HPO:skoehler]
synonym: "Pale optic disc" EXACT []
synonym: "Pale optic discs" RELATED [HPO:skoehler]
synonym: "Pale optic disk" EXACT []
xref: SNOMEDCT_US:302200001
xref: UMLS:C0554970
is_a: HP:0012795 ! Abnormality of the optic disc

[Term]
id: HP:0000544
name: External ophthalmoplegia
alt_id: HP:0007762
def: "Paralysis of the external ocular muscles." [HPO:probinson]
synonym: "Chronic progressive external ophthalmoplegia" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "CPEO" EXACT HP:0045077 [HPO:skoehler, ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Ophthalmoplegia externa" EXACT []
synonym: "Paralysis or weakness of muscles within or surrounding outer part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Progressive paralysis or weakness of muscles of eye motility" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Progressive paralysis or weakness of muscles of eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: MSH:D009886
xref: MSH:D017246
xref: SNOMEDCT_US:19373007
xref: SNOMEDCT_US:46252003
xref: UMLS:C0162292
xref: UMLS:C0162674
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0000545
name: Myopia
alt_id: HP:0001110
alt_id: HP:0007847
alt_id: HP:0008012
def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson]
subset: hposlim_core
synonym: "Close sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Near sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Near sightedness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Nearsightedness" EXACT layperson []
xref: MSH:D009216
xref: SNOMEDCT_US:57190000
xref: UMLS:C0027092
is_a: HP:0000539 ! Abnormality of refraction

[Term]
id: HP:0000546
name: Retinal degeneration
alt_id: HP:0007632
alt_id: HP:0007790
alt_id: HP:0007863
alt_id: HP:0007893
def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [HPO:probinson, ORCID:0000-0003-0986-4123]
subset: hposlim_core
synonym: "Retina degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012162
xref: SNOMEDCT_US:95695004
xref: UMLS:C0035304
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0000547
name: obsolete Tapetoretinal degeneration
synonym: "Retinotapetal degeneration" EXACT []
is_obsolete: true
replaced_by: HP:0000510

[Term]
id: HP:0000548
name: Cone/cone-rod dystrophy
alt_id: HP:0008157
synonym: "Cone rod dystrophy" EXACT []
synonym: "Cone-rod retinal dystrophy" EXACT []
xref: MSH:D012174
xref: SNOMEDCT_US:28835009
xref: SNOMEDCT_US:312917007
xref: UMLS:C0035334
xref: UMLS:C0730290
xref: UMLS:C4072827
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0000549
name: Abnormal conjugate eye movement
def: "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object." [HPO:probinson]
synonym: "Disconjugate eye movements" EXACT []
xref: UMLS:C1845274
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000550
name: Undetectable electroretinogram
alt_id: HP:0008042
def: "Lack of any response to stimulation upon electroretinography." [HPO:probinson]
synonym: "Abolished electroretinogram" EXACT []
synonym: "Absent electroretinogram" EXACT []
synonym: "Extinction of electroretinogram" EXACT []
synonym: "Extinguished electroretinogram" EXACT []
synonym: "No light-evoked response on electroretinogram" EXACT []
synonym: "Undetectable ERG" EXACT []
xref: UMLS:C1855685
is_a: HP:0000512 ! Abnormal electroretinogram

[Term]
id: HP:0000551
name: Color vision defect
def: "An anomaly in the ability to discriminate between or recognize colors." [HPO:probinson]
synonym: "Abnormal color vision" EXACT layperson []
synonym: "Abnormality of color vision" EXACT layperson []
synonym: "Abnormality of colour vision" EXACT []
synonym: "Color vision defect, severe" RELATED layperson [HPO:skoehler]
synonym: "Color vision defects" RELATED layperson [HPO:skoehler]
synonym: "Colour vision defect" RELATED layperson []
synonym: "Loss in color vision" RELATED []
xref: MSH:D003117
xref: SNOMEDCT_US:23289000
xref: SNOMEDCT_US:367469000
xref: UMLS:C0009398
xref: UMLS:C0234629
xref: UMLS:C3552853
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0000552
name: Tritanomaly
def: "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [HPO:probinson]
synonym: "Blue yellow color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Blue-yellow dyschromatopsia" EXACT []
synonym: "Blue/yellow color vision defect" RELATED [HPO:skoehler]
synonym: "Dyschromatopsia, blue-yellow" EXACT []
xref: MSH:D003117
xref: SNOMEDCT_US:51886007
xref: SNOMEDCT_US:85049009
xref: UMLS:C0155017
xref: UMLS:C1970167
is_a: HP:0011519 ! Anomalous trichromacy

[Term]
id: HP:0000553
name: Abnormal uvea morphology
def: "An abnormality of the uvea, the vascular layer of the eyeball." [HPO:probinson]
synonym: "Abnormality of the uvea" EXACT []
xref: UMLS:C4025842
is_a: HP:0012372 ! Abnormal eye morphology

[Term]
id: HP:0000554
name: Uveitis
def: "Inflammation of one or all portions of the uveal tract." [HPO:curators]
comment: The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.
subset: hposlim_core
xref: MSH:D014605
xref: SNOMEDCT_US:128473001
xref: UMLS:C0042164
is_a: HP:0000553 ! Abnormal uvea morphology
is_a: HP:0100533 ! Inflammatory abnormality of the eye

[Term]
id: HP:0000555
name: Leukocoria
def: "An abnormal white reflection from the pupil rather than the usual black reflection." [HPO:probinson]
comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma).
synonym: "Leukokoria" EXACT [ORCID:0000-0001-6908-9849]
synonym: "White pupillary reflex" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:1361009
xref: UMLS:C0152458
is_a: HP:0000615 ! Abnormal pupil morphology

[Term]
id: HP:0000556
name: Retinal dystrophy
alt_id: HP:0007736
alt_id: HP:0007910
alt_id: HP:0007974
alt_id: HP:0007982
def: "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [ORCID:0000-0003-0986-4123]
synonym: "Breakdown of light-sensitive cells in back of eye" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D058499
xref: SNOMEDCT_US:314407005
xref: UMLS:C0854723
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0000557
name: Buphthalmos
def: "Diffusely large eye (with megalocornea) associated with glaucoma." []
comment: Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched.
subset: hposlim_core
synonym: "Enlarged eyeball" EXACT layperson [https://en.wikipedia.org/wiki/buphthalmos, ORCID:0000-0001-5208-3432]
xref: MSH:D006871
xref: SNOMEDCT_US:204113001
xref: SNOMEDCT_US:246920008
xref: SNOMEDCT_US:413728006
xref: UMLS:C0020302
xref: UMLS:C0423221
is_a: HP:0001087 ! Developmental glaucoma
is_a: HP:0001090 ! Abnormally large globe

[Term]
id: HP:0000558
name: Rieger anomaly
def: "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [HPO:probinson]
comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea.
xref: MSH:C535679
xref: SNOMEDCT_US:47507006
xref: UMLS:C0265341
is_a: HP:0007676 ! Hypoplasia of the iris

[Term]
id: HP:0000559
name: Corneal scarring
xref: MSH:D065306
xref: SNOMEDCT_US:95726001
xref: UMLS:C0349702
is_a: HP:0007957 ! Corneal opacity
is_a: HP:0100699 ! Scarring

[Term]
id: HP:0000561
name: Absent eyelashes
alt_id: HP:0002288
alt_id: HP:0004516
alt_id: HP:0004539
alt_id: HP:0007926
def: "Lack of eyelashes." [HPO:curators, pmid:19125427]
comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately.
subset: hposlim_core
synonym: "Absent eyelashes" EXACT layperson []
synonym: "Agenesis of eyelashes" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of eyelashes" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Atrichia of eyelashes" EXACT []
synonym: "Failure of development of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1843005
xref: UMLS:C4280626
xref: UMLS:C4280627
is_a: HP:0002550 ! Absent facial hair
is_a: HP:0200102 ! Sparse or absent eyelashes

[Term]
id: HP:0000563
name: Keratoconus
def: "A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex." [HPO:probinson, PMID:7767020]
comment: Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge.
subset: hposlim_core
synonym: "Bulging cornea" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Conical cornea" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D007640
xref: SNOMEDCT_US:65636009
xref: UMLS:C0022578
is_a: HP:0100689 ! Decreased corneal thickness
is_a: HP:0100692 ! Increased corneal curvature

[Term]
id: HP:0000564
name: Lacrimal duct atresia
alt_id: HP:0007729
def: "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [HPO:probinson]
synonym: "Imperforate nasolacrimal ducts" EXACT []
synonym: "Nasolacrimal duct atresia" EXACT []
synonym: "Unopened tear duct" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:278530008
xref: UMLS:C0344511
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0000565
name: Esotropia
def: "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [HPO:probinson]
comment: Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria.
subset: hposlim_core
synonym: "Inward turning cross eyed" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D004948
xref: SNOMEDCT_US:16596007
xref: UMLS:C0014877
is_a: HP:0020045 ! Esodeviation
is_a: HP:0032012 ! Heterotropia

[Term]
id: HP:0000567
name: Chorioretinal coloboma
alt_id: HP:0000611
alt_id: HP:0007718
alt_id: HP:0007784
alt_id: HP:0007956
def: "Absence of a region of the retina, retinal pigment epithelium, and choroid." [HPO:probinson]
synonym: "Birth defect that causes a hole in the innermost layer at the back of the eye" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Choroid coloboma" RELATED []
synonym: "Choroidal coloboma" RELATED []
synonym: "Choroidoretinal coloboma" EXACT []
synonym: "Coloboma of choroid" RELATED []
xref: SNOMEDCT_US:39302008
xref: UMLS:C0240896
is_a: HP:0000532 ! Abnormal chorioretinal morphology
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0000568
name: Microphthalmia
alt_id: HP:0007996
def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormally small eyeball" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormally small globe of eye" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of eyeball" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of globe of eye" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Microphthalmos" EXACT []
synonym: "Nanophthalmos" RELATED []
xref: Fyler:4877
xref: MSH:D008850
xref: SNOMEDCT_US:204108000
xref: SNOMEDCT_US:61142002
xref: UMLS:C0026010
xref: UMLS:C4280625
xref: UMLS:C4280808
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
is_a: HP:0100887 ! Abnormality of globe size

[Term]
id: HP:0000570
name: Abnormal saccadic eye movements
alt_id: HP:0000604
def: "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements." [HPO:probinson]
comment: Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades.
synonym: "Abnormality of saccadic eye movements" EXACT []
synonym: "Impaired saccades" RELATED []
xref: UMLS:C1842584
xref: UMLS:C4025841
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000571
name: Hypometric saccades
def: "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [HPO:probinson, pmid:572501]
xref: SNOMEDCT_US:246768008
xref: UMLS:C0423082
is_a: HP:0000570 ! Abnormal saccadic eye movements

[Term]
id: HP:0000572
name: Visual loss
def: "Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [HPO:sdoelken]
synonym: "Loss of vision" EXACT layperson []
synonym: "Vision loss" EXACT layperson [HPO:skoehler]
synonym: "Visual loss" EXACT layperson []
xref: SNOMEDCT_US:7973008
xref: UMLS:C3665386
is_a: HP:0000505 ! Visual impairment

[Term]
id: HP:0000573
name: Retinal hemorrhage
def: "Hemorrhage occurring within the retina." [HPO:gcarletti]
comment: The type of retinal hemorrhage and its clinical appearance depends on its location within the retina.
subset: hposlim_core
synonym: "Retinal bleeding" EXACT layperson []
synonym: "Retinal hemorrhages" EXACT HP:0045078 [ORCID:0000-0002-0736-9199]
xref: MSH:D012166
xref: SNOMEDCT_US:28998008
xref: UMLS:C0035317
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0011885 ! Hemorrhage of the eye
is_a: HP:0031803 ! Fundus hemorrhage

[Term]
id: HP:0000574
name: Thick eyebrow
alt_id: HP:0004546
def: "Increased density/number and/or increased diameter of eyebrow hairs." [pmid:19125427]
comment: Thickness can be regional (medial, middle/central, lateral) or total.
subset: hposlim_core
synonym: "Bushy eyebrows" EXACT layperson []
synonym: "Dense eyebrow" EXACT layperson []
synonym: "Heavy eyebrows" EXACT layperson []
synonym: "Hypertrichosis of the eyebrow" EXACT []
synonym: "Hypertrichosis of the eyebrows" RELATED [HPO:skoehler]
synonym: "Prominent eyebrows" EXACT layperson []
synonym: "Thick eyebrow" EXACT layperson []
synonym: "Thick eyebrows" EXACT layperson [HPO:skoehler]
xref: UMLS:C1853487
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0000575
name: Scotoma
def: "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision." [HPO:probinson]
subset: hposlim_core
synonym: "Blind spot" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009898
xref: MSH:D012607
xref: SNOMEDCT_US:23388006
xref: SNOMEDCT_US:81016008
xref: UMLS:C0036454
xref: UMLS:C0344233
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0000576
name: Centrocecal scotoma
def: "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape." [HPO:probinson]
xref: MSH:D012607
xref: SNOMEDCT_US:33014001
xref: UMLS:C0271196
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0000577
name: Exotropia
alt_id: HP:0008033
def: "A form of strabismus with one or both eyes deviated outward." [HPO:probinson]
subset: hposlim_core
synonym: "Outward facing eye ball" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D005099
xref: SNOMEDCT_US:399054005
xref: SNOMEDCT_US:399252000
xref: UMLS:C0015310
is_a: HP:0020049 ! Exodeviation
is_a: HP:0032012 ! Heterotropia

[Term]
id: HP:0000579
name: Nasolacrimal duct obstruction
def: "Blockage of the lacrimal duct." [HPO:probinson]
subset: hposlim_core
synonym: "Blocked tear duct" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Lacrimal duct obstruction" EXACT []
xref: MSH:D007767
xref: SNOMEDCT_US:231841004
xref: SNOMEDCT_US:246865000
xref: SNOMEDCT_US:314022009
xref: SNOMEDCT_US:416920000
xref: UMLS:C0022906
xref: UMLS:C1281931
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0000580
name: Pigmentary retinopathy
alt_id: HP:0001146
alt_id: HP:0007702
alt_id: HP:0007821
alt_id: HP:0007852
alt_id: HP:0007869
alt_id: HP:0007934
alt_id: HP:0007961
alt_id: HP:0008010
def: "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [ORCID:0000-0003-0986-4123]
synonym: "Pigmentary retinal deposits" EXACT []
synonym: "Retinal pigment clumping" EXACT []
synonym: "Retinal pigmentary degeneration" EXACT []
xref: MSH:D012174
xref: SNOMEDCT_US:28835009
xref: UMLS:C0035334
is_a: HP:0007703 ! Abnormality of retinal pigmentation

[Term]
id: HP:0000581
name: Blepharophimosis
alt_id: HP:0000507
alt_id: HP:0000513
def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [pmid:19125427]
comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively.
subset: hposlim_core
synonym: "Decreased width of palpebral fissure" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Narrow opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D016569
xref: UMLS:C0005744
is_a: HP:0200007 ! Abnormal size of the palpebral fissures

[Term]
id: HP:0000582
name: Upslanted palpebral fissure
def: "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [pmid:19125427]
subset: hposlim_core
synonym: "Mongoloid slant" EXACT []
synonym: "Upslanted palpebral fissures" RELATED [HPO:skoehler]
synonym: "Upslanting palpebral fissures" EXACT []
synonym: "Upward slanted palpebral fissures" EXACT []
synonym: "Upward slanting of palpebral fissures" EXACT []
synonym: "Upward slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Upward slanting palpebral fissures" EXACT []
xref: SNOMEDCT_US:246799009
xref: UMLS:C0423109
is_a: HP:0200006 ! Slanting of the palpebral fissure

[Term]
id: HP:0000584
name: Punctate corneal epithelial erosions
xref: UMLS:C1832170
is_a: HP:0200020 ! Corneal erosion

[Term]
id: HP:0000585
name: Band keratopathy
def: "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [HPO:probinson]
subset: hposlim_core
synonym: "Calcific band keratopathy" EXACT []
xref: MSH:C562399
xref: SNOMEDCT_US:35055000
xref: UMLS:C0155120
is_a: HP:0011493 ! Central opacification of the cornea

[Term]
id: HP:0000586
name: Shallow orbits
alt_id: HP:0002706
def: "Reduced depth of the orbits associated with prominent-appearing ocular globes." [HPO:probinson]
synonym: "Decreased depth of eye sockets" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased depth of orbits" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Shallow eye sockets" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small shallow orbits" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1865244
is_a: HP:0000520 ! Proptosis
is_a: HP:3000030 ! Abnormality of bony orbit of skull

[Term]
id: HP:0000587
name: Abnormality of the optic nerve
def: "Abnormality of the optic nerve." [HPO:probinson]
comment: The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
subset: hposlim_core
synonym: "optic nerve abnormalities" EXACT []
synonym: "Optic nerve issue" EXACT layperson []
xref: UMLS:C0029131
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0000588
name: Optic nerve coloboma
alt_id: HP:0007997
def: "A cleft of the optic nerve that extends inferiorly." [HPO:probinson, pmid:16219745]
comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure.
subset: hposlim_core
synonym: "Coloboma of optic nerve" EXACT []
synonym: "Optic disk coloboma" EXACT []
xref: MSH:C535970
xref: SNOMEDCT_US:17541006
xref: SNOMEDCT_US:44295002
xref: UMLS:C0155299
is_a: HP:0000587 ! Abnormality of the optic nerve
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0000589
name: Coloboma
alt_id: HP:0007767
alt_id: HP:0007995
def: "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa." [HPO:probinson]
synonym: "Notched pupil" EXACT layperson []
synonym: "Ocular coloboma" EXACT []
synonym: "Ocular colobomas" EXACT []
xref: Fyler:4311
xref: MSH:D003103
xref: SNOMEDCT_US:92828000
xref: SNOMEDCT_US:93390002
xref: UMLS:C0009363
is_a: HP:0012372 ! Abnormal eye morphology

[Term]
id: HP:0000590
name: Progressive external ophthalmoplegia
alt_id: HP:0000562
def: "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades." [HPO:probinson]
comment: Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term.
synonym: "External ophthalmoplegia, progressive" EXACT []
xref: MSH:D017246
xref: SNOMEDCT_US:46252003
xref: UMLS:C0162674
is_a: HP:0000544 ! External ophthalmoplegia

[Term]
id: HP:0000591
name: Abnormal sclera morphology
def: "An abnormality of the sclera." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the outer white part of eyeball" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the sclera" EXACT []
xref: UMLS:C4025840
is_a: HP:0012372 ! Abnormal eye morphology

[Term]
id: HP:0000592
name: Blue sclerae
def: "An abnormal bluish coloration of the sclera." [HPO:probinson]
subset: hposlim_core
synonym: "Blue outer white part of eyeball" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Blue sclera" EXACT []
synonym: "Bluish sclerae" EXACT []
synonym: "Whites of eyes are a bluish-gray color" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:204164000
xref: UMLS:C0542514
is_a: HP:0000591 ! Abnormal sclera morphology

[Term]
id: HP:0000593
name: Abnormal anterior chamber morphology
def: "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the anterior chamber" EXACT []
synonym: "Anterior chamber anomalies" EXACT []
synonym: "Ocular anterior chamber abnormality" EXACT []
xref: SNOMEDCT_US:204142009
xref: UMLS:C3152182
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0000594
name: Shallow anterior chamber
alt_id: HP:0007756
def: "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [HPO:probinson]
xref: SNOMEDCT_US:246986004
xref: UMLS:C0423276
is_a: HP:0000593 ! Abnormal anterior chamber morphology

[Term]
id: HP:0000597
name: Ophthalmoparesis
alt_id: HP:0007701
alt_id: HP:0008044
def: "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators]
synonym: "Extraocular muscle palsy" EXACT []
synonym: "Extraocular muscle paralysis" EXACT []
synonym: "Weakness of extraocular eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Weakness of muscles controlling eye movement" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D009886
xref: UMLS:C0751401
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000598
name: Abnormality of the ear
def: "An abnormality of the ear." [HPO:probinson]
comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future.
subset: hposlim_core
synonym: "Abnormality of the ear" EXACT layperson []
synonym: "Ear anomaly" EXACT []
xref: SNOMEDCT_US:275259005
xref: UMLS:C0266589
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000599
name: Abnormality of the frontal hairline
def: "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not." [HPO:probinson]
synonym: "Abnormality of hairline at front of head" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the frontal hairline" EXACT layperson []
xref: UMLS:C4025839
is_a: HP:0000290 ! Abnormality of the forehead
is_a: HP:0009553 ! Abnormality of the hairline
created_by: peter
creation_date: 2008-02-27T05:34:00Z

[Term]
id: HP:0000600
name: Abnormality of the pharynx
def: "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly." [HPO:probinson]
comment: The pharynx is tubular structure extending from base of skull superiorly\nto esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system.
xref: UMLS:C4025838
is_a: HP:0000234 ! Abnormality of the head

[Term]
id: HP:0000601
name: Hypotelorism
alt_id: HP:0007877
def: "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [HPO:probinson, pmid:19125427]
subset: hposlim_core
synonym: "Abnormally close eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Closely spaced eyes" EXACT layperson []
synonym: "Decreased distance between eye sockets" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased distance between eyes" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased interpupillary distance" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased orbital separation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Ocular hypotelorism" EXACT []
xref: SNOMEDCT_US:44593008
xref: UMLS:C0424711
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0000602
name: Ophthalmoplegia
def: "Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson]
synonym: "Eye muscle paralysis" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Paralysis of extraocular eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: MSH:D009886
xref: SNOMEDCT_US:16110005
xref: UMLS:C0029089
is_a: HP:0000597 ! Ophthalmoparesis

[Term]
id: HP:0000603
name: Central scotoma
def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [HPO:probinson]
subset: hposlim_core
synonym: "Blind spot located at fixation point" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Central blind spot" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Central scotomata" EXACT []
xref: MSH:D012607
xref: SNOMEDCT_US:38950008
xref: UMLS:C0152191
xref: UMLS:C4280624
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0000605
name: Supranuclear gaze palsy
def: "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson]
synonym: "Supranuclear gaze paralysis" EXACT []
xref: SNOMEDCT_US:420675003
xref: UMLS:C1720037
is_a: HP:0000549 ! Abnormal conjugate eye movement

[Term]
id: HP:0000606
name: Abnormality of the periorbital region
def: "An abnormality of the region situated around the orbit of the eye." [HPO:probinson]
synonym: "Abnormality of the region around the eye" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the region around the eye socket" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the periorbital region" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the periorbital region" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the periorbital region" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025837
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0000607
name: Periorbital wrinkles
synonym: "Excess periorbital skin wrinkling" EXACT []
synonym: "Periorbital rhytids" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Periorbital wrinkling" EXACT []
synonym: "Wrinkles around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1844605
is_a: HP:0000606 ! Abnormality of the periorbital region
is_a: HP:0100678 ! Premature skin wrinkling

[Term]
id: HP:0000608
name: Macular degeneration
alt_id: HP:0007694
alt_id: HP:0007868
def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." [HPO:probinson, ORCID:0000-0003-0986-4123]
synonym: "Pigmented macular degeneration" EXACT []
xref: SNOMEDCT_US:422338006
xref: UMLS:C0024437
is_a: HP:0000546 ! Retinal degeneration
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0000609
name: Optic nerve hypoplasia
alt_id: HP:0007273
def: "Underdevelopment of the optic nerve." [HPO:probinson]
synonym: "Hypoplastic optic nerves" EXACT []
synonym: "Underdeveloped optic nerves" EXACT [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:95499004
xref: UMLS:C0338502
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve

[Term]
id: HP:0000610
name: Abnormal choroid morphology
alt_id: HP:0001122
def: "Any structural abnormality of the choroid." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the choroid" EXACT []
synonym: "Choroid disease" RELATED []
xref: MSH:D015862
xref: UMLS:C0008521
xref: UMLS:C4025836
is_a: HP:0000553 ! Abnormal uvea morphology
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0000611
name: obsolete Choroid coloboma
is_obsolete: true
replaced_by: HP:0000567

[Term]
id: HP:0000612
name: Iris coloboma
alt_id: HP:0007744
alt_id: HP:0007748
def: "A coloboma of the iris." [HPO:probinson, pmid:19369671]
subset: hposlim_core
synonym: "Cat eye" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Coloboma of iris" EXACT []
synonym: "Coloboma of the iris" EXACT []
synonym: "Keyhole iris" EXACT []
xref: UMLS:C0240063
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0000613
name: Photophobia
def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:probinson]
comment: Note that the term photodysphoria is used to describe extreme photophobia.
subset: hposlim_core
synonym: "Extreme sensitivity of the eyes to light" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Light hypersensitivity" EXACT layperson []
synonym: "Photodysphoria" RELATED []
xref: MSH:D020795
xref: SNOMEDCT_US:246622003
xref: SNOMEDCT_US:409668002
xref: UMLS:C0085636
xref: UMLS:C4020887
is_a: HP:0000504 ! Abnormality of vision
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000614
name: Abnormal nasolacrimal system morphology
def: "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [DDD:ncarter]
comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct.
subset: hposlim_core
synonym: "Abnormality of the nasolacrimal system" EXACT []
xref: UMLS:C4025835
is_a: HP:0030669 ! Abnormal ocular adnexa morphology

[Term]
id: HP:0000615
name: Abnormal pupil morphology
alt_id: HP:0008018
alt_id: HP:0030960
def: "An abnormality of the pupil." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal pupillary morphology" EXACT []
synonym: "Abnormality of the pupil" EXACT layperson []
synonym: "Pupillary abnormalities" EXACT layperson []
synonym: "Pupillary abnormality" EXACT layperson []
xref: SNOMEDCT_US:274093008
xref: UMLS:C0154936
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0000616
name: Miosis
def: "Abnormal (non-physiological) constriction of the pupil." [HPO:probinson]
subset: hposlim_core
synonym: "Constricted pupils" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Pupillary constriction" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D015877
xref: SNOMEDCT_US:63251006
xref: UMLS:C0026205
is_a: HP:0007686 ! Abnormal pupillary function

[Term]
id: HP:0000617
name: Abnormality of ocular smooth pursuit
alt_id: HP:0007671
alt_id: HP:0008006
def: "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements." [HPO:probinson]
comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea.
synonym: "Abnormal smooth pursuits" EXACT []
synonym: "Disrupted ocular pursuit movements" EXACT []
synonym: "Impaired smooth pursuit ocular movements" EXACT []
synonym: "Irregular visual pursuit movements" EXACT []
xref: UMLS:C1836393
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0000618
name: Blindness
alt_id: HP:0007839
def: "Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation." [DDD:gblack, PMID:28779882]
comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source.
subset: hposlim_core
synonym: "Blindness" EXACT layperson []
synonym: "Legal blindness" RELATED layperson []
synonym: "Total vision loss" EXACT []
xref: Fyler:4866
xref: MSH:D001766
xref: SNOMEDCT_US:65956007
xref: UMLS:C0271215
xref: UMLS:C0456909
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0000619
name: Impaired convergence
def: "Reduced ability to turn the eyes inward in order to focus on a nearby object." [HPO:probinson]
comment: Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target.
synonym: "Convergence insufficiency" EXACT []
xref: MSH:D015835
xref: SNOMEDCT_US:194131002
xref: UMLS:C0271379
is_a: HP:0000549 ! Abnormal conjugate eye movement

[Term]
id: HP:0000620
name: Dacryocystitis
def: "Inflammation of the nasolacrimal sac." [HPO:probinson]
comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis.
synonym: "Dacrocystitis" EXACT []
synonym: "Infection of the lacrimal sac" EXACT [https://en.wikipedia.org/wiki/dacryocystitis, ORCID:0000-0001-5208-3432]
xref: MSH:D003607
xref: SNOMEDCT_US:85777005
xref: UMLS:C0010930
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology

[Term]
id: HP:0000621
name: Entropion
def: "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital." [ORCID:0000-0003-0986-4123, pmid:19125427]
comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon.
subset: hposlim_core
synonym: "Eyelid folded in" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Eyelid turned in" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Inverted eyelid" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D004774
xref: SNOMEDCT_US:33168009
xref: UMLS:C0014390
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0000622
name: Blurred vision
alt_id: HP:0007723
def: "Lack of sharpness of vision resulting in the inability to see fine detail." [HPO:probinson]
comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible.
subset: hposlim_core
synonym: "Blurred vision" EXACT layperson []
xref: SNOMEDCT_US:111516008
xref: SNOMEDCT_US:246636008
xref: UMLS:C0344232
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0000623
name: Supranuclear ophthalmoplegia
def: "A vertical gaze palsy with inability to direct the gaze of the eyes downwards." [HPO:probinson, pmid:20629667]
subset: hposlim_core
xref: UMLS:C1408507
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0000625
name: Eyelid coloboma
def: "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427]
comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral.
subset: hposlim_core
synonym: "Cleft eyelid" EXACT layperson []
synonym: "Eyelid coloboma" EXACT []
synonym: "Full thickness defect of the eyelid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Notched eyelid" EXACT layperson []
xref: SNOMEDCT_US:95202004
xref: UMLS:C0521573
is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid

[Term]
id: HP:0000627
name: Posterior embryotoxon
alt_id: HP:0100740
def: "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe." [HPO:probinson]
comment: Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant.
subset: hposlim_core
synonym: "Embryotoxon" EXACT []
xref: SNOMEDCT_US:253228006
xref: SNOMEDCT_US:392437005
xref: UMLS:C0344531
xref: UMLS:C0546967
is_a: HP:0008048 ! Abnormality of the line of Schwalbe

[Term]
id: HP:0000629
name: Periorbital fullness
def: "Increase in periorbital soft tissue." [HPO:sdoelken]
synonym: "Fullness around the eyes" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Periorbital puffiness" EXACT []
synonym: "Puffiness around eye" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1858036
is_a: HP:0000606 ! Abnormality of the periorbital region

[Term]
id: HP:0000630
name: Abnormal retinal artery morphology
synonym: "Abnormality of retinal arteries" EXACT layperson []
synonym: "Retinal arterial abnormality" EXACT layperson []
xref: UMLS:C4021802
is_a: HP:0008046 ! Abnormal retinal vascular morphology
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:3000036 ! Abnormality of head blood vessel

[Term]
id: HP:0000631
name: Retinal arterial tortuosity
def: "The presence of an increased number of twists and turns of the retinal artery." [HPO:probinson]
subset: hposlim_core
synonym: "Retinal artery tortuousity" EXACT []
xref: SNOMEDCT_US:247123003
xref: UMLS:C0423401
is_a: HP:0000630 ! Abnormal retinal artery morphology
is_a: HP:0005116 ! Arterial tortuosity
is_a: HP:0012841 ! Retinal vascular tortuosity

[Term]
id: HP:0000632
name: Lacrimation abnormality
alt_id: HP:0000521
def: "Abnormality of tear production." [HPO:probinson]
synonym: "Abnormality of tear production" EXACT layperson []
xref: UMLS:C4021801
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0000633
name: Decreased lacrimation
def: "Abnormally decreased lacrimation, that is, reduced ability to produce tears." [HPO:probinson]
synonym: "Decreased tear secretion" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0235857
is_a: HP:0000632 ! Lacrimation abnormality

[Term]
id: HP:0000634
name: Impaired ocular abduction
def: "An impaired ability of the eye to move in the outward direction (towards the side of the head)." [HPO:probinson]
xref: UMLS:C1846462
is_a: HP:0011347 ! Abnormality of ocular abduction

[Term]
id: HP:0000635
name: Blue irides
def: "A markedly blue coloration of the iris." [HPO:probinson]
synonym: "Blue eyes" EXACT layperson []
xref: SNOMEDCT_US:301952009
xref: UMLS:C0578626
is_a: HP:0008034 ! Abnormal iris pigmentation

[Term]
id: HP:0000636
name: Upper eyelid coloboma
def: "A short discontinuity of the margin of the upper eyelid." [HPO:probinson]
synonym: "Cleft upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Coloboma of the upper eyelid" EXACT []
synonym: "Full thickness defect of the upper eyelid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Notched upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Upper eyelid colobomas" EXACT []
xref: UMLS:C1863872
is_a: HP:0000625 ! Eyelid coloboma

[Term]
id: HP:0000637
name: Long palpebral fissure
alt_id: HP:0007904
def: "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [pmid:19125427]
subset: hposlim_core
synonym: "Broad opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Broad palpebral fissure" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Long opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long palpebral fissures" EXACT [HPO:skoehler]
synonym: "Wide opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide palpebral fissure" EXACT [HPO:skoehler]
synonym: "Wide palpebral fissures" EXACT []
xref: UMLS:C1849340
is_a: HP:0200007 ! Abnormal size of the palpebral fissures

[Term]
id: HP:0000639
name: Nystagmus
def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
subset: hposlim_core
synonym: "Involuntary, rapid, rhythmic eye movements" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D009759
xref: SNOMEDCT_US:563001
xref: UMLS:C0028738
is_a: HP:0012547 ! Abnormal involuntary eye movements

[Term]
id: HP:0000640
name: Gaze-evoked nystagmus
def: "Nystagmus made apparent by looking to the right or to the left." [HPO:curators]
xref: MSH:D009760
xref: SNOMEDCT_US:29356006
xref: UMLS:C0271390
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0000641
name: Dysmetric saccades
def: "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [HPO:probinson, pmid:572501]
subset: hposlim_core
synonym: "Dysmetric eye movements" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Dysmetric eye saccades" EXACT []
synonym: "Uncoordinated eye movement" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1836392
is_a: HP:0000570 ! Abnormal saccadic eye movements

[Term]
id: HP:0000642
name: Red-green dyschromatopsia
alt_id: HP:0007960
def: "Difficulty with discriminating red and green hues." [DDD:gblack]
synonym: "Dyschromatopsia with red-green confusion" EXACT []
synonym: "Red green color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Red/green color vision defect" RELATED [HPO:skoehler]
xref: MSH:D003117
xref: SNOMEDCT_US:246674000
xref: SNOMEDCT_US:77479002
xref: UMLS:C0155016
xref: UMLS:C1970168
is_a: HP:0007641 ! Dyschromatopsia

[Term]
id: HP:0000643
name: Blepharospasm
alt_id: HP:0007907
def: "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [HPO:probinson]
synonym: "Eyelid spasm" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Eyelid twitching" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Involuntary closure of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Spontaneous closure of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D001764
xref: SNOMEDCT_US:59026006
xref: UMLS:C0005747
is_a: HP:0012179 ! Craniofacial dystonia
is_a: HP:0031879 ! Abnormal eyelid physiology

[Term]
id: HP:0000646
name: Amblyopia
def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." [HPO:probinson]
comment: Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes.
subset: hposlim_core
synonym: "Lazy eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Wandering eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Wandering eyes" EXACT [HPO:skoehler]
xref: MSH:D000550
xref: SNOMEDCT_US:387742006
xref: UMLS:C0002418
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0000647
name: Sclerocornea
def: "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [HPO:probinson]
subset: hposlim_core
synonym: "Hardening of skin and connective tissue" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:C565209
xref: UMLS:C1853235
is_a: HP:0007957 ! Corneal opacity

[Term]
id: HP:0000648
name: Optic atrophy
alt_id: HP:0007751
alt_id: HP:0007855
def: "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson]
comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion.
subset: hposlim_core
synonym: "Optic nerve atrophy" EXACT []
synonym: "Optic-nerve degeneration" EXACT []
xref: MSH:D009896
xref: SNOMEDCT_US:76976005
xref: UMLS:C0029124
is_a: HP:0012795 ! Abnormality of the optic disc

[Term]
id: HP:0000649
name: Abnormality of visual evoked potentials
def: "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." [HPO:probinson, pmid:19826847]
comment: The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent.
subset: hposlim_core
synonym: "Abnormal vision evoked potentials" EXACT []
synonym: "Abnormal visual evoked potential" EXACT []
synonym: "Abnormal visual evoked responses" EXACT []
synonym: "Abnormal visual-evoked potentials" EXACT []
synonym: "VEP abnormalities" EXACT []
xref: SNOMEDCT_US:102968003
xref: UMLS:C0522214
is_a: HP:0030453 ! Abnormal visual electrophysiology

[Term]
id: HP:0000650
name: Abnormal amplitude of pattern reversal visual evoked potentials
xref: UMLS:C4025834
is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials

[Term]
id: HP:0000651
name: Diplopia
def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:probinson]
subset: hposlim_core
synonym: "Double vision" EXACT layperson []
xref: MSH:D004172
xref: SNOMEDCT_US:24982008
xref: UMLS:C0012569
is_a: HP:0011514 ! Abnormality of binocular vision

[Term]
id: HP:0000652
name: Lower eyelid coloboma
alt_id: HP:0007909
def: "A short discontinuity of the margin of the lower eyelid." [HPO:probinson]
synonym: "Cleft lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Coloboma of lower eyelid" EXACT []
synonym: "Full thickness defect of the lower eyelid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lower lid coloboma" EXACT []
synonym: "Notched lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1837826
is_a: HP:0000625 ! Eyelid coloboma

[Term]
id: HP:0000653
name: Sparse eyelashes
alt_id: HP:0002284
alt_id: HP:0004519
alt_id: HP:0004531
alt_id: HP:0004555
alt_id: HP:0004777
alt_id: HP:0007853
def: "Decreased density/number of eyelashes." [pmid:19125427]
subset: hposlim_core
synonym: "Hypotrichosis of eyelashes" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Partial absence of eyelashes" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Scant eyelashes" EXACT layperson []
synonym: "Scanty eyelashes" EXACT layperson []
synonym: "Sparse eyelashes" EXACT layperson []
synonym: "Thin eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1843300
is_a: HP:0008070 ! Sparse hair
is_a: HP:0200102 ! Sparse or absent eyelashes

[Term]
id: HP:0000654
name: Decreased light- and dark-adapted electroretinogram amplitude
alt_id: HP:0007636
alt_id: HP:0007689
alt_id: HP:0007845
def: "Descreased amplitude of eletrical response upon electroretinography." [HPO:probinson]
synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT []
synonym: "Decreased electroretinogram" EXACT []
synonym: "Decreased electroretinogram amplitude" EXACT []
synonym: "Decreased electroretinogram response" EXACT []
synonym: "Decreased ERG amplitude" EXACT []
synonym: "Flattened or absent electroretinogram" EXACT []
synonym: "Reduced electroretinogram" EXACT []
synonym: "Reduced ERG" EXACT []
synonym: "Reduced or abolished electroretinogram" EXACT []
xref: UMLS:C1839025
is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram

[Term]
id: HP:0000655
name: obsolete Vitreoretinal degeneration
is_obsolete: true
replaced_by: HP:0007773

[Term]
id: HP:0000656
name: Ectropion
def: "An outward turning (eversion) or rotation of the eyelid margin." [pmid:19125427]
comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid.
subset: hposlim_core
synonym: "Everted eyelid" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Eyelid folded out" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Eyelid turned out" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D004483
xref: SNOMEDCT_US:127559009
xref: SNOMEDCT_US:62909004
xref: UMLS:C0013592
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0000657
name: Oculomotor apraxia
alt_id: HP:0000628
alt_id: HP:0007764
def: "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex." [HPO:probinson, pmid:20615230]
comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements.
subset: hposlim_core
synonym: "Defective or absent horizontal voluntary eye movements" RELATED []
synonym: "Ocular motor apraxia" EXACT []
xref: MSH:C537423
xref: SNOMEDCT_US:193662007
xref: UMLS:C3489733
xref: UMLS:C4020886
is_a: HP:0000496 ! Abnormality of eye movement
is_a: HP:0002186 ! Apraxia

[Term]
id: HP:0000658
name: Eyelid apraxia
synonym: "Difficulty opening the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:423142006
xref: UMLS:C1142448
is_a: HP:0002186 ! Apraxia
is_a: HP:0031879 ! Abnormal eyelid physiology

[Term]
id: HP:0000659
name: Peters anomaly
def: "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity." [HPO:probinson]
subset: hposlim_core
xref: MSH:C537884
xref: SNOMEDCT_US:204153003
xref: UMLS:C0344559
is_a: HP:0007700 ! Ocular anterior segment dysgenesis

[Term]
id: HP:0000660
name: Lipemia retinalis
def: "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." [pmid:10379021, pmid:16120862]
comment: Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter).
xref: SNOMEDCT_US:95692001
xref: UMLS:C0339477
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0000661
name: Palpebral fissure narrowing on adduction
xref: UMLS:C1846465
is_a: HP:0000581 ! Blepharophimosis

[Term]
id: HP:0000662
name: Nyctalopia
alt_id: HP:0007653
alt_id: HP:0007725
alt_id: HP:0007865
alt_id: HP:0007895
def: "Inability to see well at night or in poor light." [HPO:probinson]
subset: hposlim_core
synonym: "Difficulties with night vision" RELATED layperson []
synonym: "Night blindness" EXACT layperson []
synonym: "Night-blindness" EXACT layperson []
synonym: "Poor night vision" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: MSH:D009755
xref: SNOMEDCT_US:65194006
xref: UMLS:C0028077
xref: UMLS:C4020885
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0000664
name: Synophrys
alt_id: HP:0002210
def: "Meeting of the medial eyebrows in the midline." [pmid:19125427]
subset: hposlim_core
synonym: "Monobrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Synophris" EXACT []
synonym: "Unibrow" EXACT layperson []
xref: SNOMEDCT_US:253207002
xref: UMLS:C0431447
is_a: HP:0000534 ! Abnormal eyebrow morphology
is_a: HP:0002219 ! Facial hypertrichosis

[Term]
id: HP:0000666
name: Horizontal nystagmus
def: "Nystagmus consisting of horizontal to-and-fro eye movements." [HPO:probinson]
subset: hposlim_core
synonym: "Nystagmus, horizontal" EXACT []
xref: MSH:D009759
xref: SNOMEDCT_US:81756001
xref: UMLS:C0271385
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0000667
name: Phthisis bulbi
def: "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [HPO:probinson]
comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye.
subset: hposlim_core
xref: SNOMEDCT_US:4229009
xref: UMLS:C0271007
is_a: HP:0012372 ! Abnormal eye morphology

[Term]
id: HP:0000668
name: Hypodontia
def: "A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing." [HPO:ibailleulforestier]
comment: Hypodontia refers to a reduced number of primary or permanent teeth. Hypodontia may affect either both primary and permanent teeth or only the permanent teeth. Wisdom teeth (the third secondary maxillary and mandibular molar teeth) are not included in this count.
subset: hposlim_core
synonym: "Failure of development of between one and six teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing between one and six teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D000848
xref: SNOMEDCT_US:64969001
xref: UMLS:C0020608
is_a: HP:0009804 ! Reduced number of teeth

[Term]
id: HP:0000670
name: Carious teeth
alt_id: HP:0006295
alt_id: HP:0006306
def: "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [HPO:probinson]
comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution.
subset: hposlim_core
synonym: "Caries" EXACT []
synonym: "Cariosity of teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Dental caries" EXACT []
synonym: "Dental cavities" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Dental decay" RELATED layperson []
synonym: "Early dental caries" EXACT []
synonym: "Frequent caries" EXACT []
synonym: "Rotting teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Tooth cavities" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Tooth decay" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D003731
xref: SNOMEDCT_US:80967001
xref: UMLS:C0011334
xref: UMLS:C4280623
is_a: HP:0011061 ! Abnormality of dental structure

[Term]
id: HP:0000674
name: Anodontia
alt_id: HP:0006484
def: "The congenital absence of all teeth." [HPO:ibailleulforestier]
comment: Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth.
synonym: "Anodontia vera" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Complete agenesis of all teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Complete anodontia" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Dental agenesis" EXACT []
synonym: "Failure of development of all teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing all teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Total absence of all teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Total anodontia" NARROW [ORCID:0000-0001-5889-4463]
xref: MSH:D000848
xref: SNOMEDCT_US:16958000
xref: SNOMEDCT_US:26624006
xref: UMLS:C0399352
xref: UMLS:C4280622
is_a: HP:0009804 ! Reduced number of teeth

[Term]
id: HP:0000675
name: Macrodontia of permanent maxillary central incisor
def: "Increased size of the maxillary central secondary incisor tooth." [HPO:ibailleulforestier]
synonym: "Hyperplasia of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased size of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased size of permanent upper central incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased width of permanent maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased width of permanent upper central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Large permanent upper central incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Long maxillary central incisors" EXACT []
synonym: "Prominent upper incisors" EXACT []
synonym: "Prominent, protruding upper incisors" EXACT []
xref: UMLS:C1835095
xref: UMLS:C4280263
xref: UMLS:C4280620
xref: UMLS:C4280621
is_a: HP:0011081 ! Incisor macrodontia

[Term]
id: HP:0000676
name: Abnormality of the incisor
alt_id: HP:0006340
def: "An abnormality of the Incisor tooth." [HPO:probinson]
xref: UMLS:C4025833
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0000677
name: Oligodontia
alt_id: HP:0000702
def: "A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing." [HPO:curators, pmid:19125428]
comment: The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001].
synonym: "Failure of development of more than six teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing more than six teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Number of teeth decreased by more than six" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Partial anodontia" EXACT []
xref: UMLS:C4082304
xref: UMLS:C4280619
is_a: HP:0009804 ! Reduced number of teeth

[Term]
id: HP:0000678
name: Dental crowding
def: "Overlapping teeth within an alveolar ridge." [pmid:19125428]
subset: hposlim_core
synonym: "Crowded teeth" EXACT layperson []
synonym: "Dental crowding" EXACT layperson []
synonym: "Dental overcrowding" EXACT layperson []
synonym: "Inadequate arch length for tooth size" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Overcrowding of teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Tooth mass arch size discrepancy" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Tooth size discrepancy" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D008310
xref: SNOMEDCT_US:12351004
xref: SNOMEDCT_US:699222000
xref: UMLS:C0040433
xref: UMLS:C1317785
xref: UMLS:C4280617
xref: UMLS:C4280618
is_a: HP:0000692 ! Misalignment of teeth

[Term]
id: HP:0000679
name: Taurodontia
def: "Increased volume of dental pulp of permanent molar." [HPO:ibailleulforestier]
comment: Body of the tooth and pulp chamber is enlarged.
subset: hposlim_core
synonym: "Large elongated pulp chamber" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Taurodont" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Taurodontism" EXACT []
xref: MSH:C536946
xref: SNOMEDCT_US:51744007
xref: UMLS:C0266039
xref: UMLS:C4280616
is_a: HP:0006479 ! Abnormality of the dental pulp
is_a: HP:0006486 ! Abnormality of the dental root
is_a: HP:0011071 ! Abnormality of permanent molar morphology

[Term]
id: HP:0000680
name: Delayed eruption of primary teeth
def: "Delayed tooth eruption affecting the primary dentition." [HPO:ibailleulforestier]
synonym: "Delayed eruption of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Delayed eruption of deciduous teeth" EXACT []
synonym: "Delayed eruption of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Delayed primary teeth eruption" EXACT []
synonym: "Late eruption of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Late eruption of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Late eruption of primary teeth" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1849538
is_a: HP:0000684 ! Delayed eruption of teeth
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0000682
name: Abnormality of dental enamel
alt_id: HP:0006322
def: "An abnormality of the dental enamel." [HPO:probinson]
comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite.
subset: hposlim_core
synonym: "Abnormal tooth enamel" EXACT layperson []
synonym: "Defective tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Dystrophic tooth enamel" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Enamel abnormalities" EXACT layperson []
synonym: "Enamel abnormality" EXACT layperson []
synonym: "Malformation of dental enamel" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021800
xref: UMLS:C4280262
xref: UMLS:C4280615
is_a: HP:0011061 ! Abnormality of dental structure
is_a: HP:3000050 ! Abnormality of odontoid tissue

[Term]
id: HP:0000683
name: Grayish enamel
def: "A grey discoloration of the dental enamel." [HPO:ibailleulforestier]
comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present.
synonym: "Gray colored tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Gray tooth shade" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Grayish enamel" EXACT layperson []
synonym: "Greyish enamel" EXACT layperson []
xref: UMLS:C1854783
is_a: HP:0000682 ! Abnormality of dental enamel
is_a: HP:0011073 ! Abnormality of dental color

[Term]
id: HP:0000684
name: Delayed eruption of teeth
alt_id: HP:0000686
alt_id: HP:0006294
alt_id: HP:0006314
alt_id: HP:0006328
def: "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [HPO:ibailleulforestier, pmid:19125428]
comment: This term should not be used in a patient with Gingival overgrowth. There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum.
subset: hposlim_core
synonym: "Delayed dental development" EXACT []
synonym: "Delayed dental eruption" EXACT []
synonym: "Delayed eruption" EXACT layperson []
synonym: "Delayed eruption of teeth" EXACT layperson []
synonym: "Delayed teeth eruption" EXACT layperson []
synonym: "Delayed tooth eruption" EXACT layperson []
synonym: "Eruption, delayed" EXACT layperson []
synonym: "Late eruption of teeth" EXACT layperson []
synonym: "Late tooth eruption" EXACT layperson []
xref: SNOMEDCT_US:5639000
xref: UMLS:C0239174
is_a: HP:0006292 ! Abnormality of dental eruption

[Term]
id: HP:0000685
name: Hypoplasia of teeth
alt_id: HP:0000688
alt_id: HP:0006281
alt_id: HP:0006307
def: "Developmental hypoplasia of teeth." [HPO:ibailleulforestier]
synonym: "Decreased size of teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic teeth" EXACT []
synonym: "Underdevelopment of teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0235357
xref: UMLS:C4280611
is_a: HP:0011061 ! Abnormality of dental structure

[Term]
id: HP:0000687
name: Widely spaced teeth
def: "Increased spaces (diastemata) between most of the teeth in the same dental arch." [pmid:19125428]
comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema.
subset: hposlim_core
synonym: "Generalized dental spacing" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Generalized spacing of teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Multiple diastemata" EXACT []
synonym: "Wide-spaced teeth" EXACT layperson []
synonym: "Widely spaced teeth" EXACT layperson []
synonym: "Widely-spaced teeth" EXACT layperson []
xref: UMLS:C1844813
is_a: HP:0000692 ! Misalignment of teeth

[Term]
id: HP:0000689
name: Dental malocclusion
def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators]
synonym: "Angle class 2 malocclusion" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Angle class 3 malocclusion" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Bad bite" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Bilateral crossbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral crossbite malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Incorrect relation between upper and lower dental arches" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Malalignment of upper and lower dental arches" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Malocclusion" EXACT []
synonym: "Malocclusion of teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Misalignment of upper and lower dental arches" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D008310
xref: SNOMEDCT_US:47944004
xref: SNOMEDCT_US:707598004
xref: UMLS:C0024636
xref: UMLS:C4280613
xref: UMLS:C4280614
is_a: HP:0000692 ! Misalignment of teeth

[Term]
id: HP:0000690
name: Agenesis of maxillary lateral incisor
def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [HPO:ibailleulforestier]
synonym: "Absence of maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of upper lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absent upper lateral incisors" EXACT []
synonym: "Failure of development of maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing upper lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1849950
xref: UMLS:C4083046
is_a: HP:0200153 ! Agenesis of lateral incisor
is_a: HP:0200160 ! Agenesis of maxillary incisor

[Term]
id: HP:0000691
name: Microdontia
def: "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [HPO:ibailleulforestier, pmid:19125428]
comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately.
subset: hposlim_core
synonym: "Decreased size of tooth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic tooth" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Small teeth" EXACT []
synonym: "Small tooth" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:32337007
xref: UMLS:C0240340
xref: UMLS:C4280611
xref: UMLS:C4280612
is_a: HP:0006482 ! Abnormality of dental morphology

[Term]
id: HP:0000692
name: Misalignment of teeth
alt_id: HP:0000693
alt_id: HP:0001569
alt_id: HP:0006303
alt_id: HP:0006478
def: "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." [HPO:ibailleulforestier]
synonym: "Abnormal dental position" EXACT layperson []
synonym: "Abnormal teeth spacing" EXACT layperson []
synonym: "Abnormality of alignment of teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of position of teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of teeth spacing" EXACT layperson []
synonym: "Crooked teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Malaligned teeth" EXACT layperson []
synonym: "Malposition of teeth" EXACT layperson []
synonym: "Malpositioned teeth" EXACT layperson []
synonym: "Misalignment of teeth" EXACT layperson []
xref: UMLS:C1852504
xref: UMLS:C4280610
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0000694
name: Shell teeth
def: "A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin." [HPO:ibailleulforestier]
synonym: "Teeth with dentinal dysplasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Teeth with thin dentin and large pulp chambers" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Teeth with type iii dentinogenesis imperfecta" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:67504007
xref: UMLS:C2981132
is_a: HP:0000703 ! Dentinogenesis imperfecta

[Term]
id: HP:0000695
name: Natal tooth
def: "Erupted tooth or teeth at birth." [pmid:19125428]
subset: hposlim_core
synonym: "Born with teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Natal teeth" EXACT []
synonym: "Neonatal teeth" EXACT []
synonym: "Teeth present at birth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D009306
xref: SNOMEDCT_US:21995002
xref: SNOMEDCT_US:58748004
xref: UMLS:C0027443
is_a: HP:0006288 ! Advanced eruption of teeth

[Term]
id: HP:0000696
name: Delayed eruption of permanent teeth
def: "Delayed tooth eruption affecting the secondary dentition." [HPO:ibailleulforestier]
synonym: "Delayed eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Delayed eruption of permanent teeth" EXACT layperson []
synonym: "Delayed eruption of secondary dentition" EXACT []
synonym: "Delayed eruption of secondary teeth" EXACT []
synonym: "Delayed permanent dentition" EXACT []
xref: UMLS:C1849540
is_a: HP:0000684 ! Delayed eruption of teeth

[Term]
id: HP:0000698
name: Conical tooth
def: "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally." [HPO:ibailleulforestier]
subset: hposlim_core
synonym: "Cone shaped tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Conical teeth" RELATED []
synonym: "Conoid tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Peg shaped teeth" EXACT []
synonym: "Peg shaped tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Peg tooth" EXACT []
synonym: "Peg-shaped teeth" EXACT []
synonym: "Pointed tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:29553002
xref: UMLS:C0266037
xref: UMLS:C4012359
is_a: HP:0006482 ! Abnormality of dental morphology

[Term]
id: HP:0000699
name: Diastema
def: "Increased space between two adjacent teeth in the same dental arch." [pmid:19125428]
comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth.
subset: hposlim_core
synonym: "Dental diastasis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Dental diastema" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Diastasis of the teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Diastema of the teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Gap between teeth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Gaps between teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D003970
xref: SNOMEDCT_US:35591002
xref: UMLS:C0011998
is_a: HP:0000692 ! Misalignment of teeth

[Term]
id: HP:0000700
name: Periapical bone loss
def: "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [HPO:ibailleulforestier]
comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions.
synonym: "Bone loss around tooth root" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Dark spot around tooth root on x-ray" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Periapical cyst" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Periapical granuloma" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Periapical lesion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Periapical radiolucencies" RELATED []
synonym: "Periapical radiolucency" RELATED []
xref: MSH:D010484
xref: MSH:D011842
xref: SNOMEDCT_US:81407003
xref: SNOMEDCT_US:89988002
xref: UMLS:C0031029
xref: UMLS:C0034543
xref: UMLS:C1852169
xref: UMLS:C4280609
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0000703
name: Dentinogenesis imperfecta
def: "Developmental dysplasia of dentin." [HPO:ibailleulforestier]
comment: This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.
subset: hposlim_core
xref: MSH:D003811
xref: SNOMEDCT_US:196286005
xref: UMLS:C0011436
is_a: HP:0010299 ! Abnormality of dentin
is_a: HP:3000050 ! Abnormality of odontoid tissue

[Term]
id: HP:0000704
name: Periodontitis
alt_id: HP:0000165
alt_id: HP:0006301
def: "Inflammation of the periodontium." [HPO:ibailleulforestier]
subset: hposlim_core
synonym: "Gum disease" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Periodontal disease" BROAD []
synonym: "Pyorrhea" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D005882
xref: MSH:D010510
xref: MSH:D010518
xref: SNOMEDCT_US:18718003
xref: SNOMEDCT_US:2556008
xref: SNOMEDCT_US:41565005
xref: UMLS:C0017563
xref: UMLS:C0031090
xref: UMLS:C0031099
is_a: HP:0000164 ! Abnormality of the dentition
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0000705
name: Amelogenesis imperfecta
alt_id: HP:0006284
alt_id: HP:0006310
alt_id: HP:0006325
alt_id: HP:0006327
alt_id: HP:0006331
def: "A developmental dysplasia of the dental enamel." [HPO:ibailleulforestier, pmid:18499550]
comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations.
subset: hposlim_core
xref: MSH:D000567
xref: SNOMEDCT_US:78494001
xref: UMLS:C0002452
is_a: HP:0000682 ! Abnormality of dental enamel

[Term]
id: HP:0000706
name: Unerupted tooth
def: "The presence of one or more embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier]
synonym: "Failure of eruption of tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Pseudo-anodontia" EXACT []
synonym: "Pseudoanodontia" EXACT []
synonym: "Unerupted dentition" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Unerupted tooth" EXACT layperson []
xref: SNOMEDCT_US:109542004
xref: UMLS:C1290587
is_a: HP:0006292 ! Abnormality of dental eruption

[Term]
id: HP:0000707
name: Abnormality of the nervous system
alt_id: HP:0001333
alt_id: HP:0006987
def: "An abnormality of the nervous system." [HPO:probinson]
comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.
synonym: "Abnormality of the nervous system" EXACT layperson []
synonym: "Brain and/or spinal cord issue" BROAD layperson []
synonym: "Neurologic abnormalities" EXACT layperson []
synonym: "Neurological abnormality" EXACT layperson []
xref: MSH:D009421
xref: SNOMEDCT_US:88425004
xref: UMLS:C0497552
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000708
name: Behavioral abnormality
alt_id: HP:0000715
alt_id: HP:0002368
alt_id: HP:0002456
def: "An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson]
synonym: "Behavioral abnormality" EXACT layperson []
synonym: "Behavioral changes" EXACT layperson []
synonym: "Behavioral disorders" EXACT layperson []
synonym: "Behavioral disturbances" EXACT layperson []
synonym: "Behavioral problems" EXACT layperson []
synonym: "Behavioral symptoms" RELATED layperson []
synonym: "Behavioral/psychiatric abnormalities" EXACT layperson []
synonym: "Behavioural/Psychiatric abnormality" EXACT layperson []
synonym: "Psychiatric disorders" EXACT layperson []
synonym: "Psychiatric disturbances" EXACT layperson []
xref: MSH:D000066553
xref: MSH:D001526
xref: SNOMEDCT_US:25786006
xref: SNOMEDCT_US:277843001
xref: UMLS:C0004941
xref: UMLS:C0233514
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0000709
name: Psychosis
def: "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators]
synonym: "Psychosis" EXACT layperson []
xref: MSH:D011618
xref: SNOMEDCT_US:69322001
xref: UMLS:C0033975
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000710
name: Hyperorality
def: "A tendency or compulsion to examine objects by mouth." [HPO:sdoelken]
synonym: "Hyperoralia" EXACT []
xref: UMLS:C1838320
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000711
name: Restlessness
def: "A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress." [PMID:28332736]
synonym: "Restlessness" EXACT layperson []
xref: SNOMEDCT_US:162221009
xref: UMLS:C3887611
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000712
name: Emotional lability
alt_id: HP:0008766
def: "Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances." [PMID:23902698]
synonym: "Emotional instability" EXACT layperson []
xref: SNOMEDCT_US:18963009
xref: UMLS:C0085633
is_a: HP:0031466 ! Impairment in personality functioning

[Term]
id: HP:0000713
name: Agitation
def: "A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension." [PMID:29630205]
xref: SNOMEDCT_US:24199005
xref: UMLS:C0085631
is_a: HP:0000711 ! Restlessness

[Term]
id: HP:0000716
name: Depressivity
def: "Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior." [HPO:probinson, PMID:23902698]
synonym: "Depression" EXACT layperson []
synonym: "Depressive disorder" RELATED []
xref: MSH:D003866
xref: SNOMEDCT_US:21061000119107
xref: SNOMEDCT_US:35489007
xref: SNOMEDCT_US:78667006
xref: UMLS:C0011581
is_a: HP:0031466 ! Impairment in personality functioning

[Term]
id: HP:0000717
name: Autism
def: "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [DDD:hvfirth]
comment: The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism.
synonym: "Autism" EXACT layperson []
xref: MSH:D001321
xref: SNOMEDCT_US:408856003
xref: SNOMEDCT_US:408857007
xref: SNOMEDCT_US:43614003
xref: UMLS:C0004352
is_a: HP:0000729 ! Autistic behavior

[Term]
id: HP:0000718
name: Aggressive behavior
def: "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
synonym: "Aggression" EXACT layperson []
synonym: "Aggressive behavior" EXACT layperson []
synonym: "Aggressive behaviour" EXACT layperson []
synonym: "Aggressiveness" EXACT layperson []
synonym: "physical aggression" RELATED layperson []
xref: MSH:D000374
xref: SNOMEDCT_US:248004009
xref: SNOMEDCT_US:61372001
xref: UMLS:C0001807
xref: UMLS:C0424323
xref: UMLS:C1457883
is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior

[Term]
id: HP:0000719
name: Inappropriate behavior
synonym: "Inappropriate behavior" EXACT layperson []
xref: SNOMEDCT_US:112082005
xref: UMLS:C0233522
is_a: HP:0031466 ! Impairment in personality functioning

[Term]
id: HP:0000720
name: Mood swings
def: "An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels." [HPO:curators]
synonym: "Mood swings" EXACT layperson []
xref: SNOMEDCT_US:18963009
xref: UMLS:C0085633
is_a: HP:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0000721
name: Lack of spontaneous play
synonym: "Lack of spontaneous play" EXACT layperson []
xref: UMLS:C1837650
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000722
name: Obsessive-compulsive behavior
def: "Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV)." [HPO:probinson]
synonym: "Obsessive compulsive behavior" EXACT layperson []
synonym: "Obsessive compulsive disorder" RELATED layperson []
synonym: "Obsessive-compulsive behavior" EXACT layperson []
synonym: "Obsessive-compulsive disorder" RELATED layperson []
synonym: "OCD" RELATED layperson []
xref: MSH:D003192
xref: MSH:D009771
xref: SNOMEDCT_US:12479006
xref: SNOMEDCT_US:191736004
xref: UMLS:C0028768
xref: UMLS:C0600104
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000723
name: Restrictive behavior
def: "Behavior characterized by an abnormal limitation to few interests and activities." [HPO:probinson]
synonym: "Restricted behavior" EXACT []
synonym: "Restrictive behavior, interests, and activities" RELATED [HPO:skoehler]
synonym: "Restrictive behaviour" EXACT []
xref: UMLS:C2675334
xref: UMLS:C4021799
is_a: HP:0000729 ! Autistic behavior

[Term]
id: HP:0000725
name: Psychotic episodes
synonym: "Psychotic episodes" EXACT layperson []
xref: UMLS:C0338614
is_a: HP:0000709 ! Psychosis

[Term]
id: HP:0000726
name: Dementia
alt_id: HP:0002274
alt_id: HP:0007122
alt_id: HP:0007150
alt_id: HP:0007283
def: "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson]
synonym: "Dementia" EXACT layperson []
synonym: "Dementia, progressive" EXACT layperson []
synonym: "Progressive dementia" EXACT layperson []
xref: MSH:D003704
xref: SNOMEDCT_US:52448006
xref: UMLS:C0497327
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0000727
name: Frontal lobe dementia
xref: SNOMEDCT_US:278857002
xref: UMLS:C0338455
is_a: HP:0000726 ! Dementia

[Term]
id: HP:0000728
name: Impaired ability to form peer relationships
xref: UMLS:C1837649
is_a: HP:0000735 ! Impaired social interactions

[Term]
id: HP:0000729
name: Autistic behavior
def: "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [HPO:probinson, PMID:28879490]
comment: This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome.
synonym: "ASD" EXACT HP:0045077 []
synonym: "Autism spectrum disorder" RELATED layperson []
synonym: "Autism spectrum disorders" RELATED layperson [HPO:skoehler]
synonym: "Autistic behaviors" RELATED [HPO:skoehler]
synonym: "Autistic behaviour" EXACT HP:0045076 []
synonym: "Pervasive developmental disorder" EXACT []
xref: MSH:D000067877
xref: UMLS:C0856975
xref: UMLS:C1510586
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000732
name: Inflexible adherence to routines or rituals
xref: UMLS:C1837653
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000733
name: Stereotypy
alt_id: HP:0008758
alt_id: HP:0008759
def: "A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral." [HPO:probinson]
comment: An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
synonym: "Repetitive movements" EXACT layperson [ORCID:0000-0001-9114-8737]
synonym: "Repetitive or self-injurious behavior" EXACT layperson []
synonym: "Stereotyped behavior" EXACT []
synonym: "Stereotyped behaviors" RELATED [HPO:skoehler]
synonym: "Stereotyped, repetitive behaviour" EXACT []
synonym: "Stereotypic behavior" EXACT []
synonym: "Stereotypic behaviors" EXACT []
synonym: "Stereotypical motor behaviors" EXACT []
synonym: "Sterotyped behavior" EXACT []
xref: MSH:D013239
xref: MSH:D019956
xref: SNOMEDCT_US:5507002
xref: SNOMEDCT_US:84328007
xref: UMLS:C0038271
xref: UMLS:C0038273
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0000734
name: Disinhibition
def: "A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment." [HPO:sdoelken]
comment: Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives.
synonym: "Disinhibition" EXACT layperson []
xref: SNOMEDCT_US:247977003
xref: UMLS:C0424296
is_a: HP:0031466 ! Impairment in personality functioning

[Term]
id: HP:0000735
name: Impaired social interactions
def: "Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships." [HPO:probinson]
synonym: "Impaired social interaction" EXACT layperson []
synonym: "Impaired social interactions" EXACT layperson []
synonym: "Poor social interactions" EXACT layperson []
xref: MSH:D000067404
xref: SNOMEDCT_US:88598008
xref: UMLS:C0150080
is_a: HP:0000729 ! Autistic behavior
is_a: HP:0012433 ! Abnormal social behavior

[Term]
id: HP:0000736
name: Short attention span
def: "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators]
synonym: "Easily distracted" BROAD layperson []
synonym: "Poor attention span" EXACT layperson []
synonym: "Problem paying attention" EXACT layperson []
synonym: "Short attention span" EXACT layperson []
xref: SNOMEDCT_US:247762003
xref: UMLS:C0262630
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000737
name: Irritability
synonym: "Irritability" EXACT layperson []
synonym: "Irritable" EXACT layperson []
xref: UMLS:C2700617
is_a: HP:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0000738
name: Hallucinations
def: "Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space." [HPO:sdoelken]
synonym: "Hallucination" EXACT layperson []
synonym: "Hallucinations" EXACT layperson []
synonym: "Sensory hallucination" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D006212
xref: SNOMEDCT_US:7011001
xref: UMLS:C0018524
xref: UMLS:C0235153
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000739
name: Anxiety
def: "Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control." [HPO:probinson, PMID:23902698]
synonym: "Anxiety" EXACT layperson []
synonym: "Anxiety disease" RELATED layperson []
synonym: "Anxiousness" EXACT []
synonym: "Excessive, persistent worry and fear" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D001007
xref: SNOMEDCT_US:48694002
xref: UMLS:C0003467
xref: UMLS:C4020884
is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior

[Term]
id: HP:0000740
name: Episodic paroxysmal anxiety
def: "Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable." []
comment: An anxiety attack may manifest with one or more of the following symptoms: (i) breathing difficulty; (ii) palpitations; (iii) a feeling  of unreality; (iv) pains or tightness in the chest; (v) trembling, dizziness or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (parasthesiae); (xi) choking or smothering feelings.
xref: UMLS:C1854339
is_a: HP:0000739 ! Anxiety

[Term]
id: HP:0000741
name: Apathy
synonym: "Lack of feeling, emotion, interest" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D057565
xref: SNOMEDCT_US:20602000
xref: UMLS:C0085632
is_a: HP:0000745 ! Diminished motivation

[Term]
id: HP:0000742
name: Self-mutilation
synonym: "Deliberate self-harm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Self mutilation" EXACT layperson []
synonym: "Self-mutilation" EXACT layperson []
xref: MSH:D012652
xref: SNOMEDCT_US:130968006
xref: UMLS:C0036601
is_a: HP:0100716 ! Self-injurious behavior

[Term]
id: HP:0000743
name: Frontal release signs
alt_id: HP:0006911
def: "Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes." [HPO:sdoelken]
synonym: "Frontal release reflexes" EXACT []
xref: UMLS:C1833297
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0000744
name: Low frustration tolerance
def: "The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors." [PMID:21461367]
xref: UMLS:C0548883
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000745
name: Diminished motivation
def: "A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action." [HPO:probinson, pmid:16030444]
synonym: "Diminished motivation" EXACT layperson []
synonym: "Lack of motivation" EXACT layperson []
xref: SNOMEDCT_US:277521002
xref: UMLS:C0456814
is_a: HP:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0000746
name: Delusions
def: "A belief that is pathological and is held despite evidence to the contrary." [HPO:sdoelken]
synonym: "Delusions" EXACT layperson []
xref: MSH:D003702
xref: SNOMEDCT_US:2073000
xref: UMLS:C0011253
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000748
name: Inappropriate laughter
synonym: "Inappropriate laughter" EXACT layperson []
xref: SNOMEDCT_US:247985007
xref: UMLS:C0424304
is_a: HP:0000719 ! Inappropriate behavior

[Term]
id: HP:0000749
name: Paroxysmal bursts of laughter
synonym: "Paroxysmal laughter" EXACT []
xref: UMLS:C1839749
is_a: HP:0000748 ! Inappropriate laughter

[Term]
id: HP:0000750
name: Delayed speech and language development
alt_id: HP:0002116
alt_id: HP:0002117
alt_id: HP:0002336
alt_id: HP:0002399
alt_id: HP:0002498
alt_id: HP:0006936
alt_id: HP:0007004
alt_id: HP:0007127
alt_id: HP:0007170
alt_id: HP:0007172
def: "A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson]
comment: Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation.
synonym: "Deficiency of speech development" EXACT layperson []
synonym: "Delayed language development" EXACT layperson []
synonym: "Delayed speech" EXACT layperson [HPO:skoehler]
synonym: "Delayed speech acquisition" EXACT layperson []
synonym: "Delayed speech and language development" EXACT layperson []
synonym: "Delayed speech development" EXACT layperson []
synonym: "Impaired speech and language development" EXACT layperson []
synonym: "Impaired speech development" EXACT layperson []
synonym: "Language delay" EXACT layperson []
synonym: "Language delayed" EXACT layperson []
synonym: "Language development deficit" EXACT layperson []
synonym: "Late-onset speech development" EXACT layperson []
synonym: "Poor language development" EXACT layperson []
synonym: "Poor speech acquisition" RELATED layperson [HPO:skoehler]
synonym: "Poor speech development" RELATED layperson [HPO:skoehler]
synonym: "Speech and language delay" EXACT layperson []
synonym: "Speech and language difficulties" EXACT layperson []
synonym: "Speech delay" EXACT layperson []
synonym: "Speech difficulties" RELATED layperson []
xref: MSH:D007805
xref: SNOMEDCT_US:162294008
xref: SNOMEDCT_US:229721007
xref: SNOMEDCT_US:29164008
xref: SNOMEDCT_US:62415009
xref: UMLS:C0023012
xref: UMLS:C0233715
xref: UMLS:C0241210
xref: UMLS:C0454644
is_a: HP:0012758 ! Neurodevelopmental delay

[Term]
id: HP:0000751
name: Personality changes
def: "An abnormal shift in patterns of thinking, acting, or feeling." [HPO:probinson]
comment: This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations.
synonym: "Personality change" EXACT layperson []
synonym: "Personality changes" EXACT layperson []
xref: SNOMEDCT_US:102943000
xref: SNOMEDCT_US:192073007
xref: UMLS:C0240735
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000752
name: Hyperactivity
alt_id: HP:0008764
def: "Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate." [ORCID:0000-0002-6713-2943]
synonym: "Hyperactive behavior" EXACT []
synonym: "More active than typical" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D006948
xref: SNOMEDCT_US:44548000
xref: UMLS:C0424295
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0000753
name: Autism with high cognitive abilities
xref: UMLS:C4025832
is_a: HP:0000729 ! Autistic behavior

[Term]
id: HP:0000756
name: Agoraphobia
def: "A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather." [HPO:probinson]
synonym: "Fear of open spaces" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D000379
xref: SNOMEDCT_US:247830007
xref: SNOMEDCT_US:70691001
xref: UMLS:C0001818
is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior

[Term]
id: HP:0000757
name: Lack of insight
synonym: "Lack of insight" EXACT layperson []
xref: SNOMEDCT_US:24340004
xref: UMLS:C0233824
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0000758
name: Impaired use of nonverbal behaviors
def: "Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures." [HPO:probinson]
synonym: "Impaired use of nonverbal behaviors" EXACT layperson []
synonym: "Impaired use of nonverbal behaviours" EXACT layperson []
xref: UMLS:C4021798
is_a: HP:0000735 ! Impaired social interactions

[Term]
id: HP:0000759
name: Abnormal peripheral nervous system morphology
alt_id: HP:0003483
def: "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)." [HPO:probinson]
comment: The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves.
synonym: "Abnormal peripheral nervous system morphology" EXACT layperson []
synonym: "Peripheral nervous system disease" RELATED []
xref: MSH:D010523
xref: SNOMEDCT_US:302226006
xref: SNOMEDCT_US:42658009
xref: UMLS:C0031117
xref: UMLS:C4025831
is_a: HP:0012639 ! Abnormality of nervous system morphology

[Term]
id: HP:0000762
name: Decreased nerve conduction velocity
alt_id: HP:0000761
alt_id: HP:0007118
alt_id: HP:0007218
alt_id: HP:0007231
def: "A reduction in the speed at which electrical signals propagate along the axon of a neuron." [HPO:probinson]
comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy.
synonym: "Decreased NCV" EXACT []
synonym: "Decreased nerve conduction velocities" EXACT []
synonym: "Delayed nerve conduction velocity" EXACT []
synonym: "Reduced nerve conduction velocities" EXACT []
synonym: "Slow nerve conduction velocity" EXACT []
synonym: "Slowed nerve conduction velocities" EXACT []
xref: UMLS:C1857640
is_a: HP:0040129 ! Abnormal nerve conduction velocity

[Term]
id: HP:0000763
name: Sensory neuropathy
alt_id: HP:0003410
alt_id: HP:0006815
alt_id: HP:0007043
alt_id: HP:0007142
def: "Peripheral neuropathy affecting the sensory nerves." [HPO:curators]
synonym: "Damage to nerves that sense feeling" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Peripheral sensory neuropathy" EXACT []
xref: SNOMEDCT_US:95662005
xref: UMLS:C0151313
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0000764
name: Peripheral axonal degeneration
alt_id: HP:0006787
alt_id: HP:0006876
alt_id: HP:0007304
def: "Progressive deterioration of peripheral axons." [HPO:probinson]
comment: This finding is typically demonstrated by nerve biopsy.
xref: UMLS:C4025830
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0000765
name: Abnormality of the thorax
alt_id: HP:0100655
def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators]
synonym: "Abnormality of the chest" EXACT layperson []
xref: UMLS:C4021797
is_a: HP:0009121 ! Abnormal axial skeleton morphology

[Term]
id: HP:0000766
name: Abnormality of the sternum
alt_id: HP:0000780
alt_id: HP:0006586
alt_id: HP:0006594
alt_id: HP:0006605
alt_id: HP:0006630
alt_id: HP:0006708
def: "An anomaly of the sternum, also known as the breastbone." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the sternum" EXACT layperson []
synonym: "Pectus carinatum or pectus excavatum" EXACT []
synonym: "Pectus deformities" EXACT []
synonym: "Pectus deformity" EXACT []
synonym: "Pectus excavatum or carinatum" EXACT []
synonym: "Pectus excavatum or pectus carinatum" EXACT []
synonym: "Pectus excavatum/carinatum" EXACT []
synonym: "Sternal anomalies" EXACT layperson []
xref: UMLS:C1860493
is_a: HP:0000765 ! Abnormality of the thorax

[Term]
id: HP:0000767
name: Pectus excavatum
alt_id: HP:0006613
alt_id: HP:0006617
def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [HPO:probinson]
subset: hposlim_core
synonym: "Funnel chest" EXACT layperson []
xref: SNOMEDCT_US:391987005
xref: UMLS:C2051831
is_a: HP:0000766 ! Abnormality of the sternum

[Term]
id: HP:0000768
name: Pectus carinatum
alt_id: HP:0006639
def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:probinson]
subset: hposlim_core
synonym: "Pigeon chest" EXACT layperson [https://en.wikipedia.org/wiki/pectus_carinatum, ORCID:0000-0001-5208-3432]
xref: MSH:D066166
xref: SNOMEDCT_US:205101001
xref: UMLS:C0158731
is_a: HP:0000766 ! Abnormality of the sternum

[Term]
id: HP:0000769
name: Abnormality of the breast
def: "An abnormality of the breast." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the breast" EXACT layperson []
xref: UMLS:C4025829
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000771
name: Gynecomastia
alt_id: HP:0000770
def: "Abnormal development of large mammary glands in males resulting in breast enlargement." [HPO:probinson]
subset: hposlim_core
synonym: "Enlarged male breast" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Gynaecomastia" EXACT []
xref: MSH:D006177
xref: SNOMEDCT_US:4754008
xref: UMLS:C0018418
is_a: HP:0031093 ! Abnormal breast morphology

[Term]
id: HP:0000772
name: Abnormality of the ribs
alt_id: HP:0006618
def: "An anomaly of the rib." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the ribs" EXACT layperson []
synonym: "Rib abnormalities" EXACT layperson []
synonym: "Rib anomalies" EXACT []
xref: UMLS:C1842083
is_a: HP:0001547 ! Abnormality of the rib cage

[Term]
id: HP:0000773
name: Short ribs
alt_id: HP:0000899
alt_id: HP:0000908
alt_id: HP:0009750
def: "Reduced rib length." [HPO:probinson]
synonym: "Hypoplastic ribs" EXACT []
synonym: "Rib hypoplasia" EXACT []
synonym: "Short ribs" EXACT layperson []
xref: SNOMEDCT_US:249696007
xref: UMLS:C0426817
is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs

[Term]
id: HP:0000774
name: Narrow chest
alt_id: HP:0000909
alt_id: HP:0005252
alt_id: HP:0006588
def: "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [HPO:probinson]
synonym: "Low chest circumference" EXACT layperson []
synonym: "Narrow chest" EXACT layperson []
synonym: "Narrow shoulders" EXACT layperson []
synonym: "Narrow thorax" EXACT []
synonym: "Reduced anterior-posterior chest diameter" EXACT []
xref: SNOMEDCT_US:249671009
xref: UMLS:C0426790
is_a: HP:0005257 ! Thoracic hypoplasia

[Term]
id: HP:0000775
name: Abnormality of the diaphragm
alt_id: HP:0005204
def: "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity." [HPO:probinson]
synonym: "Abnormality of the diaphragm" EXACT layperson []
synonym: "Diaphragm issues" EXACT layperson []
synonym: "Diaphragmatic defect" EXACT layperson []
xref: UMLS:C1848873
is_a: HP:0003011 ! Abnormality of the musculature

[Term]
id: HP:0000776
name: Congenital diaphragmatic hernia
alt_id: HP:0006604
def: "The presence of a hernia of the diaphragm present at birth." [HPO:probinson]
comment: Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period.
synonym: "Diaphragmatic hernia" EXACT []
xref: MSH:D065630
xref: SNOMEDCT_US:17190001
xref: UMLS:C0235833
is_a: HP:0000775 ! Abnormality of the diaphragm
is_a: HP:0100790 ! Hernia

[Term]
id: HP:0000777
name: Abnormality of the thymus
def: "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." [HPO:probinson]
synonym: "Abnormality of the thymus" EXACT layperson []
synonym: "Thymic hypoplasia" EXACT []
xref: SNOMEDCT_US:93297002
xref: UMLS:C0262650
xref: UMLS:C0685891
is_a: HP:0000818 ! Abnormality of the endocrine system
is_a: HP:0100763 ! Abnormality of the lymphatic system

[Term]
id: HP:0000778
name: Hypoplasia of the thymus
def: "Underdevelopment of the thymus." [HPO:curators]
synonym: "Small thymus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Thymus hypoplasia" EXACT []
xref: SNOMEDCT_US:93297002
xref: UMLS:C0685891
xref: UMLS:C4228227
is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus

[Term]
id: HP:0000782
name: Abnormality of the scapula
def: "Any abnormality of the scapula, also known as the shoulder blade." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025828
is_a: HP:0000765 ! Abnormality of the thorax

[Term]
id: HP:0000786
name: Primary amenorrhea
xref: SNOMEDCT_US:8913004
xref: UMLS:C0232939
is_a: HP:0000141 ! Amenorrhea

[Term]
id: HP:0000787
name: Nephrolithiasis
alt_id: HP:0000102
def: "The presence of calculi (stones) in the kidneys." [HPO:probinson]
comment: Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. THe resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter.
synonym: "Kidney stones" EXACT layperson []
synonym: "Renal calculi" EXACT []
synonym: "Renal stones" EXACT []
xref: MSH:D053040
xref: UMLS:C0392525
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000789
name: Infertility
synonym: "Infertility" EXACT layperson []
xref: MSH:D007246
xref: SNOMEDCT_US:15296000
xref: SNOMEDCT_US:8619003
xref: UMLS:C0021359
is_a: HP:0000144 ! Decreased fertility

[Term]
id: HP:0000790
name: Hematuria
def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
synonym: "Blood in urine" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "High urine occult blood" BROAD layperson []
xref: MSH:D006417
xref: SNOMEDCT_US:34436003
xref: SNOMEDCT_US:53298000
xref: UMLS:C0018965
is_a: HP:0012211 ! Abnormal renal physiology
is_a: HP:0012614 ! Abnormal urine cytology

[Term]
id: HP:0000791
name: Uric acid nephrolithiasis
def: "The presence of uric acid-containing calculi (stones) in the kidneys." [HPO:probinson]
synonym: "Uric acid stones" EXACT layperson []
synonym: "Uric acid urolithiasis" EXACT []
xref: SNOMEDCT_US:267441009
xref: UMLS:C0403719
is_a: HP:0000787 ! Nephrolithiasis

[Term]
id: HP:0000793
name: Membranoproliferative glomerulonephritis
def: "A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity" [PMID:19908070]
synonym: "Mesangiocapillary glomerulonephritis" EXACT []
synonym: "MPGN" EXACT HP:0045077 []
xref: MSH:D015432
xref: SNOMEDCT_US:80321008
xref: UMLS:C0017662
is_a: HP:0000099 ! Glomerulonephritis

[Term]
id: HP:0000794
name: IgA deposition in the glomerulus
def: "The presence of immunoglobulin A deposits in the glomerulus." [Eurenomics:ewuehl]
synonym: "IgA nephropathy" RELATED []
xref: MSH:D005922
xref: SNOMEDCT_US:236407003
xref: SNOMEDCT_US:68779003
xref: UMLS:C0017661
xref: UMLS:C4025827
is_a: HP:0030949 ! Glomerular deposits

[Term]
id: HP:0000795
name: Abnormality of the urethra
def: "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [HPO:probinson]
synonym: "Urethra issue" EXACT layperson []
xref: UMLS:C4025826
is_a: HP:0000032 ! Abnormality of male external genitalia
is_a: HP:0010936 ! Abnormality of the lower urinary tract

[Term]
id: HP:0000796
name: Urethral obstruction
def: "Obstruction of the flow of urine through the urethra." [HPO:probinson]
xref: MSH:D014524
xref: SNOMEDCT_US:95588004
xref: UMLS:C0041972
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0000798
name: Oligospermia
def: "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen." [HPO:probinson]
synonym: "Low sperm count" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009845
xref: UMLS:C0028960
is_a: HP:0008669 ! Abnormal spermatogenesis

[Term]
id: HP:0000799
name: Renal steatosis
def: "Abnormal fat accumulation in the kidneys." [HPO:probinson]
synonym: "Fatty kidney" EXACT layperson []
xref: UMLS:C4021796
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0000800
name: Cystic renal dysplasia
alt_id: HP:0008737
synonym: "Bilateral cystic dysplasia" EXACT []
synonym: "Renal cystic dysplasia" EXACT []
synonym: "Renal dysplasia, cystic" EXACT []
xref: UMLS:C1834931
is_a: HP:0000107 ! Renal cyst

[Term]
id: HP:0000802
name: Impotence
def: "Inability to develop or maintain an erection of the penis." [HPO:probinson]
synonym: "Difficulty getting a full erection" EXACT layperson []
synonym: "Difficulty getting an erection" EXACT layperson []
synonym: "Erectile dysfunction" EXACT layperson []
xref: MSH:D007172
xref: SNOMEDCT_US:397803000
xref: UMLS:C0242350
is_a: HP:0012874 ! Abnormal male reproductive system physiology
is_a: HP:0100639 ! Erectile abnormalities

[Term]
id: HP:0000803
name: Renal cortical cysts
def: "Cysts of the cortex of the kidney." [Eurenomics:fschaefer]
synonym: "Cortical cysts" EXACT []
xref: UMLS:C1969144
is_a: HP:0000107 ! Renal cyst
is_a: HP:0011035 ! Abnormal renal cortex morphology

[Term]
id: HP:0000804
name: Xanthine nephrolithiasis
def: "The presence of xanthine-containing calculi (stones) in the kidneys." [HPO:probinson]
synonym: "Urinary xanthine stones" EXACT []
synonym: "Xanthine stones" EXACT []
xref: UMLS:C1848431
is_a: HP:0000787 ! Nephrolithiasis

[Term]
id: HP:0000805
name: Enuresis
def: "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken]
xref: MSH:D004775
xref: SNOMEDCT_US:8009008
xref: UMLS:C0014394
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0000807
name: Glandular hypospadias
xref: SNOMEDCT_US:204891000
xref: SNOMEDCT_US:429631000124104
xref: UMLS:C0452168
is_a: HP:0000047 ! Hypospadias

[Term]
id: HP:0000808
name: Penoscrotal hypospadias
def: "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [HPO:probinson]
xref: SNOMEDCT_US:204889008
xref: UMLS:C0452147
is_a: HP:0000047 ! Hypospadias

[Term]
id: HP:0000809
name: Urinary tract atresia
def: "Congenital absence of the normal opening of a structure of the urinary tract." [HPO:probinson]
xref: UMLS:C1389003
is_a: HP:0000079 ! Abnormality of the urinary system
created_by: peter
creation_date: 2008-02-27T04:07:00Z

[Term]
id: HP:0000811
name: Abnormal external genitalia
synonym: "Abnormal external genitalia" EXACT layperson []
xref: UMLS:C4025825
is_a: HP:0012243 ! Abnormal reproductive system morphology

[Term]
id: HP:0000812
name: Abnormal internal genitalia
def: "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male)." [HPO:probinson]
synonym: "Abnormal internal genitalia" EXACT layperson []
xref: UMLS:C4025824
is_a: HP:0012243 ! Abnormal reproductive system morphology

[Term]
id: HP:0000813
name: Bicornuate uterus
alt_id: HP:0008735
def: "The presence of a bicornuate uterus." [HPO:probinson]
comment: Uterus with two horn-shaped branches.
synonym: "Heart shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Heart-shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Uterus bicornis" EXACT []
xref: SNOMEDCT_US:31401003
xref: UMLS:C0266387
is_a: HP:0031105 ! Abnormal uterus morphology

[Term]
id: HP:0000815
name: Hypergonadotropic hypogonadism
alt_id: HP:0008679
def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators]
synonym: "Hypergonadotrophic hypogonadism" EXACT []
synonym: "Primary hypogonadism" EXACT []
xref: MSH:D007006
xref: SNOMEDCT_US:370999003
xref: UMLS:C0948896
is_a: HP:0000135 ! Hypogonadism

[Term]
id: HP:0000816
name: Abnormality of Krebs cycle metabolism
def: "An abnormality of the tricarboxylic acid cycle." [HPO:probinson]
synonym: "Abnormality of citric acid cycle" EXACT [HPO:curators]
synonym: "Abnormality of the tricarboxylic cycle" EXACT []
xref: UMLS:C4021795
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: peter
creation_date: 2008-03-17T12:58:00Z

[Term]
id: HP:0000817
name: Poor eye contact
def: "Difficulty in looking at another person in the eye." [HPO:probinson]
comment: Eye contact, define as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication.
synonym: "Poor eye contact" EXACT layperson []
xref: SNOMEDCT_US:412786000
xref: UMLS:C1445953
is_a: HP:0000735 ! Impaired social interactions

[Term]
id: HP:0000818
name: Abnormality of the endocrine system
def: "An abnormality of the endocrine system." [HPO:probinson]
comment: The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions.
synonym: "Endocrine system disease" RELATED []
xref: MSH:D004700
xref: SNOMEDCT_US:362969004
xref: UMLS:C0014130
xref: UMLS:C4025823
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000819
name: Diabetes mellitus
alt_id: HP:0004908
alt_id: HP:0008217
alt_id: HP:0008234
alt_id: HP:0008260
def: "A group of abnormalities characterized by hyperglycemia and glucose intolerance." [HPO:probinson]
xref: MSH:D003920
xref: SNOMEDCT_US:73211009
xref: UMLS:C0011849
is_a: HP:0000818 ! Abnormality of the endocrine system
is_a: HP:0001952 ! Glucose intolerance

[Term]
id: HP:0000820
name: Abnormality of the thyroid gland
def: "An abnormality of the thyroid gland." [HPO:probinson]
synonym: "Abnormality of the thyroid gland" EXACT layperson []
synonym: "Thyroid abnormality" EXACT layperson []
synonym: "Thyroid disease" RELATED layperson []
xref: MSH:D013959
xref: SNOMEDCT_US:14304000
xref: UMLS:C0040128
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000821
name: Hypothyroidism
alt_id: HP:0003222
alt_id: HP:0008203
def: "Deficiency of thyroid hormone." [HPO:probinson]
synonym: "Low T4" EXACT []
synonym: "Underactive thyroid" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D007037
xref: SNOMEDCT_US:40930008
xref: UMLS:C0020676
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0000822
name: Hypertension
alt_id: HP:0004949
alt_id: HP:0005126
def: "The presence of chronic increased pressure in the systemic arterial system." [HPO:probinson]
comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both.
synonym: "High blood pressure" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Systemic hypertension" EXACT []
xref: MSH:D006973
xref: SNOMEDCT_US:24184005
xref: SNOMEDCT_US:38341003
xref: UMLS:C0020538
xref: UMLS:C0497247
is_a: HP:0032263 ! Increased blood pressure

[Term]
id: HP:0000823
name: Delayed puberty
alt_id: HP:0008859
alt_id: HP:0010466
alt_id: HP:0010467
def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson]
comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy.
synonym: "Delayed pubertal development" EXACT layperson []
synonym: "Delayed pubertal growth" EXACT layperson []
synonym: "Delayed puberty" EXACT layperson []
synonym: "Pubertal delay" EXACT layperson [HPO:skoehler]
xref: MSH:D011628
xref: SNOMEDCT_US:123526007
xref: SNOMEDCT_US:400003000
xref: UMLS:C0034012
is_a: HP:0001510 ! Growth delay
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0000824
name: Growth hormone deficiency
alt_id: HP:0000861
alt_id: HP:0008195
alt_id: HP:0008206
def: "Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism." [HPO:probinson]
comment: The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults.
synonym: "Growth hormone deficiency" EXACT layperson []
synonym: "Somatotropin deficiency" EXACT []
xref: SNOMEDCT_US:2109003
xref: UMLS:C3714796
is_a: HP:0000830 ! Anterior hypopituitarism
is_a: HP:0032367 ! Abnormal growth hormone level

[Term]
id: HP:0000825
name: Hyperinsulinemic hypoglycemia
def: "An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [HPO:probinson]
comment: Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar.
synonym: "Hyperinsulinaemic hypoglycaemia" EXACT []
synonym: "Hyperinsulinemia hypoglycemia" EXACT []
xref: UMLS:C1864903
is_a: HP:0000842 ! Hyperinsulinemia

[Term]
id: HP:0000826
name: Precocious puberty
def: "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:probinson]
synonym: "Early onset of puberty" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Early puberty" EXACT layperson []
xref: MSH:D011629
xref: SNOMEDCT_US:123527003
xref: SNOMEDCT_US:400179000
xref: UMLS:C0034013
is_a: HP:0100000 ! Early onset of sexual maturation

[Term]
id: HP:0000828
name: Abnormality of the parathyroid gland
def: "An abnormality of the parathyroid gland." [HPO:curators]
comment: There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone.
synonym: "Parathyroid disease" RELATED []
xref: MSH:D010279
xref: SNOMEDCT_US:73132005
xref: UMLS:C0030517
xref: UMLS:C4025822
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000829
name: Hypoparathyroidism
alt_id: HP:0000856
alt_id: HP:0008292
def: "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [HPO:probinson]
synonym: "Decreased parathyroid hormone secretion" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Low parathyroid hormone" EXACT []
xref: MSH:D007011
xref: SNOMEDCT_US:36976004
xref: UMLS:C0020626
is_a: HP:0011767 ! Abnormality of the parathyroid physiology

[Term]
id: HP:0000830
name: Anterior hypopituitarism
def: "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [HPO:probinson]
xref: UMLS:C4025821
is_a: HP:0040075 ! Hypopituitarism

[Term]
id: HP:0000831
name: Insulin-resistant diabetes mellitus
def: "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels." [HPO:probinson, pmid:7706500]
synonym: "Insulin resistant diabetes" EXACT layperson []
synonym: "Insulin resistant diabetes mellitus" EXACT []
synonym: "Insulin-resistant diabetes" EXACT layperson []
xref: UMLS:C0854110
is_a: HP:0000819 ! Diabetes mellitus
is_a: HP:0000855 ! Insulin resistance

[Term]
id: HP:0000832
name: Primary hypothyroidism
def: "A type of hypothyroidism that results from a defect in the thyroid gland." [HPO:probinson]
xref: SNOMEDCT_US:111566002
xref: UMLS:C0700502
is_a: HP:0000821 ! Hypothyroidism

[Term]
id: HP:0000833
name: obsolete Glucose intolerance
is_obsolete: true
replaced_by: HP:0001952

[Term]
id: HP:0000834
name: Abnormality of the adrenal glands
def: "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [HPO:probinson]
synonym: "Adrenal abnormalities" EXACT layperson []
synonym: "Adrenal gland disease" RELATED layperson []
xref: MSH:D000307
xref: SNOMEDCT_US:30171000
xref: UMLS:C0001621
xref: UMLS:C4021794
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000835
name: Adrenal hypoplasia
def: "Developmental hypoplasia of the adrenal glands." [HPO:probinson]
synonym: "Adrenal gland hypoplasia" EXACT []
synonym: "Hypoplastic adrenal glands" EXACT []
synonym: "Small adrenal glands" EXACT layperson []
xref: MSH:C538429
xref: SNOMEDCT_US:237774001
xref: UMLS:C0342491
xref: UMLS:C1846223
is_a: HP:0011732 ! Abnormality of adrenal morphology

[Term]
id: HP:0000836
name: Hyperthyroidism
alt_id: HP:0008241
def: "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." [HPO:probinson]
synonym: "Overactive thyroid" EXACT layperson [http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986, ORCID:0000-0001-5208-3432]
xref: MSH:D006980
xref: SNOMEDCT_US:34486009
xref: UMLS:C0020550
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0000837
name: Increased circulating gonadotropin level
alt_id: HP:0030340
def: "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland." [DDD:spark]
synonym: "Elevated gonadotropins" EXACT layperson []
synonym: "Elevated serum gonadotropins" EXACT layperson []
synonym: "Gonadotropin excess" EXACT layperson []
synonym: "Increased circulating gonadotropin level" EXACT layperson []
xref: UMLS:C1862265
is_a: HP:0010514 ! Hyperpituitarism
is_a: HP:0030338 ! Abnormal circulating gonadotropin level

[Term]
id: HP:0000839
name: Pituitary dwarfism
def: "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [HPO:probinson]
xref: MSH:D004393
xref: SNOMEDCT_US:367460001
xref: SNOMEDCT_US:7530009
xref: UMLS:C0013338
is_a: HP:0000824 ! Growth hormone deficiency
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0000840
name: Adrenogenital syndrome
alt_id: HP:0001921
def: "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects." [HPO:probinson]
xref: MSH:D047808
xref: SNOMEDCT_US:237751000
xref: SNOMEDCT_US:267395000
xref: SNOMEDCT_US:271077003
xref: UMLS:C0302280
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0000841
name: Hyperactive renin-angiotensin system
def: "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms." [HPO:probinson]
comment: If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume.
synonym: "Increased plasma renin activity" RELATED [HPO:skoehler]
xref: UMLS:C1846345
xref: UMLS:C3150267
is_a: HP:0000847 ! Abnormality of renin-angiotensin system

[Term]
id: HP:0000842
name: Hyperinsulinemia
def: "An increased concentration of insulin in the blood." [HPO:probinson]
synonym: "Elevated insulin level" EXACT []
xref: MSH:D006946
xref: SNOMEDCT_US:83469008
xref: UMLS:C0020459
is_a: HP:0011014 ! Abnormal glucose homeostasis
is_a: HP:0040215 ! Abnormal circulating insulin level

[Term]
id: HP:0000843
name: Hyperparathyroidism
def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [HPO:probinson]
synonym: "Elevated blood parathyroid hormone level" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006961
xref: SNOMEDCT_US:66999008
xref: UMLS:C0020502
is_a: HP:0011767 ! Abnormality of the parathyroid physiology

[Term]
id: HP:0000845
name: Growth hormone excess
alt_id: HP:0008856
def: "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [DDD:spark, HPO:probinson]
comment: Disorder resulting from excess pituitary gland production of growth hormone (hGH).
synonym: "Acral hypertrophy" EXACT []
synonym: "Acromegalic growth" EXACT []
synonym: "Acromegaly" EXACT []
synonym: "Growth hormone excess" EXACT layperson []
synonym: "Somatotropin excess" EXACT []
xref: MSH:C531600
xref: MSH:D000172
xref: SNOMEDCT_US:74107003
xref: UMLS:C0001206
xref: UMLS:C0235986
is_a: HP:0010514 ! Hyperpituitarism
is_a: HP:0032367 ! Abnormal growth hormone level

[Term]
id: HP:0000846
name: Adrenal insufficiency
alt_id: HP:0000865
alt_id: HP:0008218
def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands." [HPO:probinson, pmid:11443143]
comment: Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation.
synonym: "Hypoadrenalism" EXACT []
xref: MSH:D000309
xref: SNOMEDCT_US:111563005
xref: SNOMEDCT_US:237785004
xref: SNOMEDCT_US:386584007
xref: UMLS:C0001623
is_a: HP:0011733 ! Abnormality of adrenal physiology

[Term]
id: HP:0000847
name: Abnormality of renin-angiotensin system
alt_id: HP:0003350
def: "An abnormality of the renin-angiotensin system." [HPO:probinson]
comment: The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance.
synonym: "Abnormality of the renin-aldosterone axis" EXACT []
xref: UMLS:C4021793
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000848
name: Increased circulating renin level
alt_id: HP:0003615
def: "An increased level of renin (PRO:000013883) in the blood." [HPO:probinson]
synonym: "Elevated blood renin level" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Elevated plasma renin" EXACT []
synonym: "Hyperreninemia" EXACT []
synonym: "Increased plasma renin" EXACT []
synonym: "Increased serum renin" EXACT []
xref: UMLS:C0240783
is_a: HP:0040084 ! Abnormal circulating renin

[Term]
id: HP:0000849
name: Adrenocortical abnormality
xref: UMLS:C4025820
is_a: HP:0011732 ! Abnormality of adrenal morphology

[Term]
id: HP:0000851
name: Congenital hypothyroidism
def: "A type of hypothyroidism with congenital onset." [HPO:probinson]
synonym: "Hypothyroidism, congenital" EXACT []
synonym: "Underactive thyroid gland from birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D003409
xref: SNOMEDCT_US:190268003
xref: SNOMEDCT_US:217710005
xref: UMLS:C0010308
is_a: HP:0000821 ! Hypothyroidism

[Term]
id: HP:0000852
name: Pseudohypoparathyroidism
def: "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone." [HPO:probinson]
xref: MSH:D011547
xref: SNOMEDCT_US:58976002
xref: UMLS:C0033806
is_a: HP:0011767 ! Abnormality of the parathyroid physiology

[Term]
id: HP:0000853
name: Goiter
def: "An enlargement of the thyroid gland." [HPO:probinson]
synonym: "Enlarged thyroid gland in neck" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Goitre" EXACT HP:0045076 []
synonym: "Thyroid goiter" EXACT []
xref: MSH:D006042
xref: SNOMEDCT_US:3716002
xref: UMLS:C0018021
is_a: HP:0011772 ! Abnormality of thyroid morphology

[Term]
id: HP:0000854
name: Thyroid adenoma
def: "The presence of a adenoma of the thyroid gland." [HPO:probinson]
xref: MSH:D013964
xref: NCIT:C2855
xref: SNOMEDCT_US:255033000
xref: SNOMEDCT_US:255034006
xref: UMLS:C0151468
is_a: HP:0100031 ! Neoplasm of the thyroid gland

[Term]
id: HP:0000855
name: Insulin resistance
def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson]
synonym: "Body fails to respond to insulin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D007333
xref: SNOMEDCT_US:48606007
xref: UMLS:C0021655
is_a: HP:0011014 ! Abnormal glucose homeostasis

[Term]
id: HP:0000857
name: Neonatal insulin-dependent diabetes mellitus
xref: UMLS:C3278636
is_a: HP:0000831 ! Insulin-resistant diabetes mellitus

[Term]
id: HP:0000858
name: Menstrual irregularities
synonym: "Menstrual irregularity" EXACT layperson []
xref: SNOMEDCT_US:80182007
xref: UMLS:C0156404
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0000859
name: Hyperaldosteronism
alt_id: HP:0004318
alt_id: HP:0005975
def: "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." [DDD:spark, HPO:probinson]
synonym: "Elevated plasma aldosterone" EXACT layperson []
synonym: "Increased aldosterone" EXACT layperson []
synonym: "Increased aldosterone production" EXACT layperson []
synonym: "Mineralocorticoid excess" EXACT []
xref: MSH:D006929
xref: SNOMEDCT_US:88213004
xref: UMLS:C0020428
is_a: HP:0002717 ! Adrenal overactivity

[Term]
id: HP:0000860
name: Parathyroid hypoplasia
def: "Developmental hypoplasia of the parathyroid gland." [HPO:probinson]
synonym: "Small parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1389851
is_a: HP:0011768 ! Parathyroid dysgenesis

[Term]
id: HP:0000863
name: Central diabetes insipidus
alt_id: HP:0008210
def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators]
synonym: "Neurohypophyseal diabetes insipidus" EXACT []
xref: MSH:D020790
xref: SNOMEDCT_US:45369008
xref: UMLS:C0687720
is_a: HP:0000873 ! Diabetes insipidus
is_a: HP:0011751 ! Abnormality of the posterior pituitary

[Term]
id: HP:0000864
name: Abnormality of the hypothalamus-pituitary axis
alt_id: HP:0000838
alt_id: HP:0000844
def: "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [DDD:spark]
xref: UMLS:C4025819
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000866
name: Euthyroid multinodular goiter
xref: UMLS:C1846034
is_a: HP:0009798 ! Euthyroid goiter

[Term]
id: HP:0000867
name: Secondary hyperparathyroidism
def: "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia." [HPO:probinson, pmid:19836494]
comment: Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism.
xref: MSH:D006962
xref: SNOMEDCT_US:91478007
xref: UMLS:C0020503
is_a: HP:0000843 ! Hyperparathyroidism

[Term]
id: HP:0000868
name: Decreased fertility in females
synonym: "Decreased fertility in females" EXACT layperson []
synonym: "Reduced fertility in females" EXACT layperson []
xref: UMLS:C0151639
is_a: HP:0000144 ! Decreased fertility

[Term]
id: HP:0000869
name: Secondary amenorrhea
synonym: "Previous menstrual periods stop" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: SNOMEDCT_US:86030004
xref: UMLS:C0232940
is_a: HP:0000141 ! Amenorrhea

[Term]
id: HP:0000870
name: Prolactin excess
def: "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [DDD:spark, HPO:probinson]
synonym: "Hyperprolactinaemia" EXACT []
synonym: "Hyperprolactinemia" EXACT []
xref: MSH:D006966
xref: SNOMEDCT_US:237662005
xref: UMLS:C0020514
is_a: HP:0010514 ! Hyperpituitarism

[Term]
id: HP:0000871
name: Panhypopituitarism
def: "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [HPO:probinson, pmid:12466332]
xref: MSH:C580003
xref: SNOMEDCT_US:32390006
xref: UMLS:C0242343
is_a: HP:0000830 ! Anterior hypopituitarism

[Term]
id: HP:0000872
name: Hashimoto thyroiditis
def: "A chronic, autoimmune type of thyroiditis associated with hypothyroidism." [HPO:probinson]
synonym: "Chronic lymphocytic thyroiditis" EXACT []
synonym: "Hashimoto's thyroiditis" EXACT []
xref: MSH:D050031
xref: SNOMEDCT_US:21983002
xref: UMLS:C0677607
is_a: HP:0002960 ! Autoimmunity
is_a: HP:0100646 ! Thyroiditis

[Term]
id: HP:0000873
name: Diabetes insipidus
def: "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators]
xref: MSH:D003919
xref: SNOMEDCT_US:15771004
xref: UMLS:C0011848
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0000875
name: Episodic hypertension
synonym: "Intermittent high blood pressure" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1857175
is_a: HP:0000822 ! Hypertension

[Term]
id: HP:0000876
name: Oligomenorrhea
def: "Infrequent menses (less than 6 per year or more than 35 days between cycles)." [HPO:probinson, pmid:22594864]
synonym: "Light or infrequent menstrual periods" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D009839
xref: SNOMEDCT_US:52073004
xref: UMLS:C0028949
is_a: HP:0000140 ! Abnormality of the menstrual cycle

[Term]
id: HP:0000877
name: Insulin-resistant diabetes mellitus at puberty
synonym: "Insulin-resistant diabetes mellitus at puberty" EXACT layperson []
xref: UMLS:C1837792
is_a: HP:0000831 ! Insulin-resistant diabetes mellitus

[Term]
id: HP:0000878
name: 11 pairs of ribs
def: "Presence of only 11 pairs of ribs." [HPO:probinson]
comment: Normally, there are 12 pairs of ribs.
subset: hposlim_core
synonym: "11 pairs of ribs" EXACT layperson []
xref: UMLS:C1839731
is_a: HP:0000921 ! Missing ribs

[Term]
id: HP:0000879
name: Short sternum
def: "Decreased inferosuperior length of the sternum." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic sternum" RELATED []
synonym: "Short sternum" EXACT layperson []
xref: SNOMEDCT_US:298724002
xref: UMLS:C0575497
xref: UMLS:C4020883
is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum

[Term]
id: HP:0000882
name: Hypoplastic scapulae
alt_id: HP:0000906
alt_id: HP:0006616
def: "Underdeveloped scapula." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic scapula" EXACT []
synonym: "Scapular hypoplasia" EXACT []
synonym: "Short scapulae" EXACT []
synonym: "Small scapula" EXACT []
synonym: "Small scapulae" EXACT []
synonym: "Small shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846434
is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae

[Term]
id: HP:0000883
name: Thin ribs
def: "Ribs with a reduced diameter." [HPO:probinson]
subset: hposlim_core
synonym: "Slender ribs" EXACT layperson []
synonym: "Thin ribs" EXACT layperson []
xref: SNOMEDCT_US:249697003
xref: UMLS:C0426818
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000884
name: Prominent sternum
synonym: "Prominent sternum" EXACT layperson []
synonym: "Sternal protrusion" EXACT []
xref: UMLS:C1846433
is_a: HP:0000766 ! Abnormality of the sternum

[Term]
id: HP:0000885
name: Broad ribs
alt_id: HP:0000903
alt_id: HP:0000950
alt_id: HP:0006667
def: "Increased width of ribs" [HPO:probinson]
subset: hposlim_core
synonym: "Broad ribs" EXACT layperson []
synonym: "Wide ribs" EXACT layperson []
xref: UMLS:C1848654
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000886
name: Deformed rib cage
def: "Malformation of the rib cage." [HPO:probinson]
synonym: "Deformed rib cage" EXACT layperson []
xref: UMLS:C1838659
is_a: HP:0001547 ! Abnormality of the rib cage

[Term]
id: HP:0000887
name: Cupped ribs
alt_id: HP:0006635
def: "Wide, concave rib end." [HPO:probinson]
subset: hposlim_core
synonym: "Cupped ribs" EXACT layperson []
synonym: "Rib cupping" EXACT layperson []
synonym: "Rib flaring" RELATED layperson []
xref: SNOMEDCT_US:249704008
xref: UMLS:C0426826
xref: UMLS:C1865039
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000888
name: Horizontal ribs
def: "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12." [HPO:probinson]
synonym: "Horizontal ribs" EXACT layperson []
xref: UMLS:C3806510
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000889
name: Abnormality of the clavicle
def: "Any abnormality of the clavicles (collar bones)." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal clavicles" EXACT []
synonym: "Abnormal collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021792
is_a: HP:0000765 ! Abnormality of the thorax

[Term]
id: HP:0000890
name: Long clavicles
alt_id: HP:0006592
def: "Increased length of the clavicles." [HPO:probinson]
synonym: "Elongated clavicles" EXACT []
synonym: "Long collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:249687007
xref: UMLS:C0426808
is_a: HP:0000889 ! Abnormality of the clavicle

[Term]
id: HP:0000891
name: Cervical ribs
subset: hposlim_core
xref: MSH:D057070
xref: SNOMEDCT_US:72535009
xref: UMLS:C0158779
is_a: HP:0005815 ! Supernumerary ribs

[Term]
id: HP:0000892
name: Bifid ribs
def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [HPO:probinson]
synonym: "Cleft ribs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Split ribs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:66102006
xref: UMLS:C0265695
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000893
name: Bulging of the costochondral junction
def: "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage." [HPO:probinson]
comment: The costochondral junction is the structure where the ribs articulate with the sternum.
xref: UMLS:C1848538
is_a: HP:0000766 ! Abnormality of the sternum
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0000894
name: Short clavicles
alt_id: HP:0000898
alt_id: HP:0005698
alt_id: HP:0005902
def: "Reduced length of the clavicles." [HPO:probinson]
subset: hposlim_core
synonym: "Clavicular hypoplasia" EXACT []
synonym: "Hypoplastic clavicles" EXACT []
synonym: "Short collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped clavicles" EXACT []
xref: SNOMEDCT_US:93250003
xref: UMLS:C0426799
is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles

[Term]
id: HP:0000895
name: Lateral clavicle hook
def: "An excessive upward convexity of the lateral clavicle." [HPO:probinson, pmid:7322653]
synonym: "Handlebar clavicle" EXACT []
synonym: "Hook-shaped clavicle" EXACT []
synonym: "Hook-shaped collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hooked clavicle" EXACT []
xref: SNOMEDCT_US:249684000
xref: UMLS:C0426805
is_a: HP:0000889 ! Abnormality of the clavicle

[Term]
id: HP:0000896
name: Rib exostoses
def: "Multiple circumscribed bony excrescences located in the ribs." [HPO:probinson]
xref: UMLS:C1835579
is_a: HP:0000772 ! Abnormality of the ribs
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0000897
name: Rachitic rosary
def: "A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary." [HPO:probinson, PMID:26745253]
comment: Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene.
xref: SNOMEDCT_US:15214001
xref: SNOMEDCT_US:249702007
xref: UMLS:C0426824
is_a: HP:0000766 ! Abnormality of the sternum
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0000900
name: Thickened ribs
def: "Increased thickness (diameter) of ribs." [HPO:probinson]
subset: hposlim_core
xref: SNOMEDCT_US:249699000
xref: UMLS:C0426820
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000902
name: Rib fusion
alt_id: HP:0000880
def: "Complete or partial merging of adjacent ribs." [HPO:probinson]
synonym: "Fused ribs" EXACT layperson []
synonym: "Rib fusion" EXACT layperson []
xref: UMLS:C1844749
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000904
name: Flaring of rib cage
alt_id: HP:0006656
def: "The presence of wide, concave anterior rib ends." [HPO:curators]
synonym: "Anterior flaring of ribs" EXACT []
synonym: "Flaring of rib cage" EXACT layperson []
xref: UMLS:C1854780
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000905
name: Progressive clavicular acroosteolysis
def: "Progressive bone resorption in the distal part of the clavicle." [HPO:probinson]
synonym: "Progressive acroosteolysis of the clavicle" EXACT []
xref: UMLS:C1837757
is_a: HP:0000889 ! Abnormality of the clavicle
is_a: HP:0002797 ! Osteolysis

[Term]
id: HP:0000907
name: Anterior rib cupping
alt_id: HP:0006601
def: "Wide, concave anterior rib end." [HPO:probinson]
synonym: "Anterior cupping of ribs" EXACT []
synonym: "Anteriorly splayed ribs" EXACT []
xref: UMLS:C1846154
is_a: HP:0000887 ! Cupped ribs

[Term]
id: HP:0000910
name: Wide-cupped costochondral junctions
xref: UMLS:C1861213
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0000911
name: Flat glenoid fossa
def: "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson, pmid:15163819]
comment: See pmid:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa.
xref: UMLS:C1855177
is_a: HP:0011912 ! Abnormality of the glenoid fossa

[Term]
id: HP:0000912
name: Sprengel anomaly
alt_id: HP:0006621
def: "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)." [HPO:probinson]
comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible.
subset: hposlim_core
synonym: "Congenital, upward displacement of the scapula" EXACT []
synonym: "High scapula" EXACT [https://en.wikipedia.org/wiki/sprengel%27s_deformity, ORCID:0000-0001-5208-3432]
synonym: "High shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sprengel deformity" EXACT []
xref: MEDDRA:10010455 "Congenital elevation of scapula"
xref: MSH:C535802
xref: SNOMEDCT_US:79120002
xref: UMLS:C0152438
is_a: HP:0000782 ! Abnormality of the scapula

[Term]
id: HP:0000913
name: Posterior rib fusion
def: "Complete or partial merging of the posterior part of adjacent ribs." [HPO:probinson]
xref: UMLS:C1842084
is_a: HP:0000902 ! Rib fusion

[Term]
id: HP:0000914
name: Shield chest
def: "A broad chest." [HPO:probinson, pmid:22368597]
comment: Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome.
synonym: "Broad chest" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Shield chest" EXACT layperson []
xref: UMLS:C1834124
xref: UMLS:C1839248
is_a: HP:0100625 ! Enlarged thorax

[Term]
id: HP:0000915
name: Pectus excavatum of inferior sternum
def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [HPO:probinson]
synonym: "Pectus excavatum inferiorly" EXACT []
xref: UMLS:C1864796
is_a: HP:0000767 ! Pectus excavatum

[Term]
id: HP:0000916
name: Broad clavicles
alt_id: HP:0006651
def: "Increased width (cross-sectional diameter) of the clavicles." [HPO:probinson]
subset: hposlim_core
synonym: "Broad collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:249680009
xref: UMLS:C0426801
is_a: HP:0000889 ! Abnormality of the clavicle

[Term]
id: HP:0000917
name: Superior pectus carinatum
def: "Pectus carinatum affecting primarily the superior part of the sternum." [HPO:curators]
synonym: "Pectus carinatum superiorly" EXACT []
xref: UMLS:C1864795
is_a: HP:0000768 ! Pectus carinatum

[Term]
id: HP:0000918
name: Scapular exostoses
def: "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage." [HPO:probinson]
synonym: "Scapulae exostoses" EXACT []
synonym: "Shoulder bone exostoes" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1851415
is_a: HP:0000782 ! Abnormality of the scapula
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0000919
name: Abnormality of the costochondral junction
def: "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson]
comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum.
synonym: "Costochondral juctions abnormal" EXACT []
xref: UMLS:C4021791
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000920
name: Enlargement of the costochondral junction
alt_id: HP:0006620
def: "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson]
subset: hposlim_core
synonym: "Costochondral thickening" EXACT []
synonym: "Enlarged costochondral junctions" EXACT []
synonym: "Prominent costochondral junction" EXACT []
synonym: "Wide costochondral junctions" EXACT []
synonym: "Widened costochondral junction" EXACT []
xref: UMLS:C1857180
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0000921
name: Missing ribs
alt_id: HP:0000881
alt_id: HP:0006627
def: "A developmental anomaly with absence of one or more ribs." [HPO:probinson]
subset: hposlim_core
synonym: "Absent ribs" EXACT layperson []
synonym: "Decreased rib number" EXACT layperson []
synonym: "Missing ribs" EXACT layperson []
xref: SNOMEDCT_US:249695006
xref: UMLS:C0426816
is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs

[Term]
id: HP:0000922
name: Posterior rib cupping
alt_id: HP:0006622
def: "Wide, concave posterior rib end." [HPO:probinson]
synonym: "Anterior and posterior rib cupping" EXACT []
xref: UMLS:C1837483
is_a: HP:0000887 ! Cupped ribs

[Term]
id: HP:0000923
name: Beaded ribs
def: "The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage." [HPO:probinson]
comment: Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children.
xref: SNOMEDCT_US:15214001
xref: SNOMEDCT_US:249702007
xref: UMLS:C0426824
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0000924
name: Abnormality of the skeletal system
def: "An abnormality of the skeletal system." [HPO:probinson]
synonym: "Abnormality of the skeletal system" EXACT layperson []
synonym: "Skeletal abnormalities" EXACT layperson []
synonym: "Skeletal anomalies" EXACT layperson []
xref: UMLS:C4021790
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0000925
name: Abnormality of the vertebral column
def: "Any abnormality of the vertebral column." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal spine" EXACT layperson [HPO:skoehler]
synonym: "Abnormal vertebral column" EXACT layperson []
synonym: "Abnormality of the backbone" RELATED layperson []
synonym: "Abnormality of the spine" EXACT layperson []
synonym: "Abnormality of the vertebral column" EXACT layperson []
xref: UMLS:C4020882
xref: UMLS:C4021789
is_a: HP:0009121 ! Abnormal axial skeleton morphology

[Term]
id: HP:0000926
name: Platyspondyly
alt_id: HP:0002940
alt_id: HP:0003421
alt_id: HP:0004595
alt_id: HP:0004623
alt_id: HP:0004627
alt_id: HP:0005123
alt_id: HP:0005644
alt_id: HP:0008466
def: "A flattened vertebral body shape with reduced distance between the vertebral endplates." [HPO:probinson]
subset: hposlim_core
synonym: "Flat vertebral bodies" EXACT []
synonym: "Flattened vertebrae" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Flattened vertebral bodies" EXACT []
xref: UMLS:C1844704
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0000927
name: Abnormality of skeletal maturation
def: "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." [HPO:probinson]
synonym: "Abnormality of skeletal maturation" EXACT layperson []
xref: UMLS:C4025818
is_a: HP:0011843 ! Abnormality of skeletal physiology

[Term]
id: HP:0000929
name: Abnormality of the skull
def: "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:probinson]
synonym: "Abnormality of the skull" EXACT layperson []
synonym: "Abnormality of the skull bones" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0235942
is_a: HP:0000234 ! Abnormality of the head
is_a: HP:0009121 ! Abnormal axial skeleton morphology

[Term]
id: HP:0000930
name: Elevated imprint of the transverse sinuses
synonym: "Elevated imprint of occipital bone over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Elevated imprint of posterior skull bones over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thinning and bulging of occipital bone over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thinning and bulging of posterior skull bones over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025817
is_a: HP:0002693 ! Abnormality of the skull base

[Term]
id: HP:0000931
name: Thinning and bulging of the posterior fossa bones
synonym: "Thinning and bulging of occipital bone of skull" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Thinning and bulging of posterior fossa bones" EXACT []
synonym: "Thinning and bulging of posterior skull bones" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021788
xref: UMLS:C4280608
is_a: HP:0000932 ! Abnormality of the posterior cranial fossa

[Term]
id: HP:0000932
name: Abnormality of the posterior cranial fossa
alt_id: HP:0007306
def: "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." [HPO:curators]
comment: This finding can be demonstrated by cerebral magnetic resonance imaging or computer tomography.
synonym: "Abnormality of the posterior fossa" EXACT []
synonym: "Posterior fossa anomaly" EXACT []
xref: UMLS:C3280768
is_a: HP:0002693 ! Abnormality of the skull base

[Term]
id: HP:0000933
name: Posterior fossa cyst at the fourth ventricle
xref: UMLS:C4025816
is_a: HP:0007109 ! Periventricular cysts
is_a: HP:0007291 ! Posterior fossa cyst

[Term]
id: HP:0000934
name: Chondrocalcinosis
def: "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ." [HPO:sdoelken]
synonym: "Calcium deposits in joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D002805
xref: SNOMEDCT_US:201637001
xref: SNOMEDCT_US:239832006
xref: SNOMEDCT_US:239838005
xref: UMLS:C0553730
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0100685 ! Abnormal Sharpey fiber morphology

[Term]
id: HP:0000935
name: Thickened cortex of long bones
def: "Abnormal thickening of the cortex of long bones." [HPO:curators]
synonym: "Broad cortex of long bones" EXACT []
synonym: "Cortical thickening of the long bones" EXACT []
synonym: "Thickened cortices of long bones" EXACT []
xref: UMLS:C1840418
is_a: HP:0011314 ! Abnormality of long bone morphology
is_a: HP:0100039 ! Thickened cortex of bones

[Term]
id: HP:0000938
name: Osteopenia
alt_id: HP:0002768
alt_id: HP:0002799
alt_id: HP:0002800
def: "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [HPO:probinson, PMID:21234807]
synonym: "Generalized osteopenia" EXACT []
xref: MSH:D001851
xref: SNOMEDCT_US:312894000
xref: SNOMEDCT_US:78441005
xref: UMLS:C0029453
xref: UMLS:C0747078
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0000939
name: Osteoporosis
alt_id: HP:0002774
def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453]
comment: Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures.
xref: MSH:D010024
xref: SNOMEDCT_US:64859006
xref: UMLS:C0029456
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0000940
name: Abnormal diaphysis morphology
def: "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [HPO:probinson]
synonym: "Abnormal shape of shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the diaphyses" EXACT []
xref: UMLS:C4021787
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0000941
name: Short diaphyses
synonym: "Short shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025815
is_a: HP:0000940 ! Abnormal diaphysis morphology

[Term]
id: HP:0000943
name: Dysostosis multiplex
alt_id: HP:0002760
xref: MSH:D008059
xref: SNOMEDCT_US:254069004
xref: SNOMEDCT_US:65327002
xref: UMLS:C0086795
is_a: HP:0011842 ! Abnormality of skeletal morphology

[Term]
id: HP:0000944
name: Abnormality of the metaphysis
alt_id: HP:0006506
def: "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [HPO:probinson]
synonym: "Abnormality of the wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025814
is_a: HP:0002813 ! Abnormality of limb bone morphology
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0000946
name: Hypoplastic ilia
alt_id: HP:0003176
alt_id: HP:0003178
def: "Underdevelopment of the ilium." [HPO:probinson]
synonym: "Short and small iliac bones" EXACT []
synonym: "Small iliac bones" EXACT []
synonym: "Small wings of the pelvic girdle" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861218
xref: UMLS:C4280607
is_a: HP:0002867 ! Abnormality of the ilium

[Term]
id: HP:0000947
name: Dumbbell-shaped long bone
alt_id: HP:0005061
alt_id: HP:0005071
alt_id: HP:0005075
def: "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson]
synonym: "Dumbbell widening of long bone metaphyses" EXACT []
synonym: "Dumbbell-shaped long bone" EXACT layperson []
xref: UMLS:C2749582
is_a: HP:0003016 ! Metaphyseal widening

[Term]
id: HP:0000951
name: Abnormality of the skin
alt_id: HP:0001478
alt_id: HP:0001479
alt_id: HP:0005591
alt_id: HP:0006736
alt_id: HP:0007415
alt_id: HP:0007580
def: "An abnormality of the skin." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the skin" EXACT layperson []
synonym: "dermatopathy" EXACT [HPO:skoehler]
synonym: "dermopathy" EXACT [HPO:skoehler]
synonym: "Skin abnormality" RELATED []
xref: MSH:D012868
xref: MSH:D012871
xref: SNOMEDCT_US:199879009
xref: SNOMEDCT_US:95320005
xref: UMLS:C0037268
xref: UMLS:C0037274
is_a: HP:0001574 ! Abnormality of the integument

[Term]
id: HP:0000952
name: Jaundice
def: "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:probinson]
synonym: "Icterus" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Jaundice" EXACT layperson []
synonym: "Yellow skin" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Yellowing of the skin" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D007565
xref: SNOMEDCT_US:18165001
xref: UMLS:C0022346
is_a: HP:0001005 ! Dermatological manifestations of systemic disorders
is_a: HP:0001396 ! Cholestasis

[Term]
id: HP:0000953
name: Hyperpigmentation of the skin
alt_id: HP:0007527
def: "A darkening of the skin related to an increase in melanin production and deposition." [HPO:probinson]
synonym: "Cutaneous hyperpigmentation" EXACT []
synonym: "Hyperpigmented lesion" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Increased skin pigmentation" EXACT []
synonym: "Melanoderma" RELATED []
synonym: "Melanodermia" RELATED []
synonym: "Patchy darkened skin" EXACT layperson []
synonym: "Skin hyperpigmentation" EXACT []
xref: MSH:D017495
xref: SNOMEDCT_US:4830009
xref: SNOMEDCT_US:49765009
xref: UMLS:C0162834
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0000954
name: Single transverse palmar crease
alt_id: HP:0006214
def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [HPO:probinson, pmid:19125433]
comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present).
subset: hposlim_core
synonym: "Simian crease" EXACT []
synonym: "Simian creases" EXACT []
synonym: "Simian line" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Single flexion crease" EXACT []
synonym: "Single palmar crease" EXACT []
synonym: "Single palmar creases" EXACT []
synonym: "Single transverse palmar creases" EXACT []
synonym: "Transverse palmar crease" EXACT []
xref: SNOMEDCT_US:248409006
xref: UMLS:C0424731
is_a: HP:0010490 ! Abnormality of the palmar creases

[Term]
id: HP:0000956
name: Acanthosis nigricans
alt_id: HP:0007498
alt_id: HP:0007518
alt_id: HP:0007591
def: "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [DDD:cmoss, pmid:19061584]
comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia.
subset: secondary_consequence
synonym: "Darkened and thickened skin" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Keratosis nigricans" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D000052
xref: SNOMEDCT_US:402599005
xref: SNOMEDCT_US:72129000
xref: UMLS:C0000889
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0000957
name: Cafe-au-lait spot
alt_id: HP:0005601
alt_id: HP:0007454
def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [HPO:probinson]
comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.
synonym: "Birthmark" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Cafe au lait spots" EXACT []
synonym: "Cafe-au-lait macule" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Cafe-au-lait macules" EXACT []
synonym: "Cafe-au-lait spots" RELATED [HPO:skoehler]
synonym: "Flat light-brown mark on skin" BROAD layperson []
xref: MSH:D019080
xref: SNOMEDCT_US:201281002
xref: SNOMEDCT_US:51089004
xref: UMLS:C0221263
xref: UMLS:C0265974
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0000958
name: Dry skin
def: "Skin characterized by the lack of natural or normal moisture." [HPO:probinson]
subset: hposlim_core
synonym: "Dry skin" EXACT layperson []
synonym: "Xerosis" EXACT []
xref: MEDDRA:10048222 "Xerosis"
xref: SNOMEDCT_US:16386004
xref: UMLS:C0151908
xref: UMLS:C0259817
is_a: HP:0011121 ! Abnormality of skin morphology

[Term]
id: HP:0000960
name: Sacral dimple
def: "A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson]
subset: hposlim_core
synonym: "Pilonidal dimple" EXACT []
synonym: "Spinal dimple" EXACT layperson [https://en.wikipedia.org/wiki/sacral_dimple, ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:249729002
xref: SNOMEDCT_US:311897005
xref: UMLS:C0426848
is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality
is_a: HP:0010781 ! Skin dimples

[Term]
id: HP:0000961
name: Cyanosis
def: "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood." [PMID:25658213]
synonym: "Blue discoloration of the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D003490
xref: SNOMEDCT_US:119419001
xref: SNOMEDCT_US:3415004
xref: UMLS:C0010520
is_a: HP:0001005 ! Dermatological manifestations of systemic disorders
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0000962
name: Hyperkeratosis
alt_id: HP:0007523
def: "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:probinson]
subset: hposlim_core
xref: MEDDRA:10020649 "Hyperkeratosis"
xref: SNOMEDCT_US:26996000
xref: SNOMEDCT_US:396228006
xref: SNOMEDCT_US:399955009
xref: UMLS:C0870082
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0000963
name: Thin skin
alt_id: HP:0001020
def: "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin." [HPO:probinson]
subset: hposlim_core
synonym: "Thin skin" EXACT layperson []
xref: SNOMEDCT_US:277797007
xref: UMLS:C0423757
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0000964
name: Eczema
alt_id: HP:0001481
def: "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:probinson]
comment: Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis.
synonym: "Eczema" EXACT layperson []
xref: MSH:D004485
xref: SNOMEDCT_US:281104002
xref: SNOMEDCT_US:43116000
xref: UMLS:C0013595
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0000965
name: Cutis marmorata
alt_id: HP:0001037
def: "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather." [HPO:sdoelken]
subset: hposlim_core
synonym: "Livedo reticularis" EXACT []
xref: SNOMEDCT_US:26825009
xref: UMLS:C0263401
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0000966
name: Hypohidrosis
alt_id: HP:0007551
alt_id: HP:0007571
def: "Abnormally diminished capacity to sweat." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased ability to sweat" EXACT layperson []
synonym: "Decreased sweating" EXACT layperson []
synonym: "Inadequate sweating" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Oligohidrosis" EXACT []
synonym: "Sweating, decreased" EXACT layperson []
xref: MEDDRA:10021013 "Hypohidrosis"
xref: MSH:D007007
xref: SNOMEDCT_US:45004005
xref: UMLS:C0020620
is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis

[Term]
id: HP:0000967
name: Petechiae
def: "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [HPO:probinson]
subset: hposlim_core
xref: MEDDRA:10034754 "Petechiae"
xref: MSH:D011693
xref: SNOMEDCT_US:271813007
xref: SNOMEDCT_US:50091001
xref: UMLS:C0031256
is_a: HP:0031365 ! Macular purpura

[Term]
id: HP:0000968
name: Ectodermal dysplasia
alt_id: HP:0007615
def: "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands." [HPO:probinson]
comment: This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future.
xref: MSH:D004476
xref: SNOMEDCT_US:254154003
xref: SNOMEDCT_US:8654005
xref: UMLS:C0013575
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0000969
name: Edema
alt_id: HP:0000990
def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:probinson]
comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability.
synonym: "Dropsy" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Fluid retention" EXACT layperson []
synonym: "Hydrops" EXACT []
synonym: "Oedema" EXACT []
synonym: "Water retention" EXACT layperson []
xref: MSH:D004487
xref: SNOMEDCT_US:20741006
xref: SNOMEDCT_US:267038008
xref: SNOMEDCT_US:423666004
xref: SNOMEDCT_US:79654002
xref: UMLS:C0013604
is_a: HP:0011032 ! Abnormality of fluid regulation

[Term]
id: HP:0000970
name: Anhidrosis
def: "Inability to sweat." [HPO:probinson]
subset: hposlim_core
synonym: "Lack of sweating" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432]
synonym: "Sudomotor dysfunction" EXACT [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432]
synonym: "Sweating dysfunction" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432]
xref: MEDDRA:10002512 "Anhidrosis"
xref: MSH:D007007
xref: SNOMEDCT_US:14662005
xref: SNOMEDCT_US:39659002
xref: UMLS:C0003028
is_a: HP:0025276 ! Abnormality of skin adnexa physiology

[Term]
id: HP:0000971
name: Abnormal sweat gland morphology
def: "Any structural abnormality of the sweat gland." [HPO:probinson]
synonym: "Abnormalities of sweating" RELATED layperson [HPO:skoehler]
synonym: "Abnormality of the sweat gland" EXACT layperson []
synonym: "Sweat gland disease" RELATED layperson []
xref: MSH:D013543
xref: SNOMEDCT_US:88232005
xref: UMLS:C0038986
xref: UMLS:C0262643
xref: UMLS:C4020881
is_a: HP:0011138 ! Abnormality of skin adnexa morphology

[Term]
id: HP:0000972
name: Palmoplantar hyperkeratosis
def: "Hyperkeratosis affecting the palm of the hand and the sole of the foot." [HPO:probinson]
subset: hposlim_core
synonym: "Hyperkeratosis of palms and soles" EXACT []
synonym: "Hyperkeratosis of the palms and soles" EXACT []
synonym: "Palmoplantar keratoses" EXACT []
synonym: "Palmoplantar keratosis" EXACT []
synonym: "Thick palms and soles" EXACT []
synonym: "Thickened palms and soles" EXACT []
synonym: "Thickening of the outer layer of the skin of the palms and soles" EXACT layperson []
xref: MSH:D007645
xref: SNOMEDCT_US:706885006
xref: UMLS:C0022596
is_a: HP:0007556 ! Plantar hyperkeratosis
is_a: HP:0010765 ! Palmar hyperkeratosis

[Term]
id: HP:0000973
name: Cutis laxa
def: "Wrinkled, redundant, inelastic and sagging skin." [HPO:probinson]
synonym: "Chalazoderma" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849]
synonym: "Cutaneous laxity" EXACT []
synonym: "Dermatochalasia" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849]
synonym: "Dermatomegaly" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849]
synonym: "Elastolysis" EXACT []
synonym: "Generalized elastolysis" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849]
synonym: "Hanging skin" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Hypoelastic skin" EXACT []
synonym: "Inelastic skin" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Lax skin" EXACT []
synonym: "Loose and inelastic skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Loose skin" EXACT []
synonym: "Skin laxity" EXACT []
xref: MSH:C531660
xref: MSH:D003483
xref: SNOMEDCT_US:58588007
xref: UMLS:C0010495
xref: UMLS:C2930812
xref: UMLS:C4280606
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin

[Term]
id: HP:0000974
name: Hyperextensible skin
alt_id: HP:0007389
alt_id: HP:0007493
alt_id: HP:0007578
def: "A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [HPO:sdoelken]
comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds.
subset: hposlim_core
synonym: "Hyperelastic skin" EXACT layperson []
synonym: "Skin hyperelasticity" EXACT layperson []
synonym: "Skin hyperextensibility" EXACT []
synonym: "Stretchable skin" EXACT layperson []
xref: UMLS:C0241074
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin

[Term]
id: HP:0000975
name: Hyperhidrosis
alt_id: HP:0001011
alt_id: HP:0001064
alt_id: HP:0007424
def: "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [HPO:probinson]
comment: Ther terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather.
subset: hposlim_core
synonym: "Diaphoresis" EXACT []
synonym: "Excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased sweating" EXACT layperson []
synonym: "Profuse sweating" EXACT layperson []
synonym: "Sweating" EXACT layperson []
synonym: "Sweating profusely" EXACT layperson []
synonym: "Sweating, increased" EXACT layperson []
xref: MEDDRA:10020642 "Hyperhidrosis"
xref: MSH:D006945
xref: MSH:D013546
xref: SNOMEDCT_US:161857006
xref: SNOMEDCT_US:312230002
xref: SNOMEDCT_US:364538006
xref: SNOMEDCT_US:415690000
xref: SNOMEDCT_US:415691001
xref: SNOMEDCT_US:52613005
xref: UMLS:C0020458
xref: UMLS:C0038990
xref: UMLS:C0700590
is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis

[Term]
id: HP:0000976
name: Eczematoid dermatitis
xref: MSH:D004485
xref: SNOMEDCT_US:281104002
xref: SNOMEDCT_US:43116000
xref: UMLS:C0013595
is_a: HP:0000964 ! Eczema

[Term]
id: HP:0000977
name: Soft skin
def: "Subjective impression of increased softness upon palpitation of the skin." [HPO:probinson]
subset: hposlim_core
synonym: "Soft skin" EXACT layperson []
synonym: "Velvety skin" RELATED layperson []
synonym: "Velvety skin texture" RELATED layperson [HPO:skoehler]
xref: UMLS:C0241178
xref: UMLS:C1844592
is_a: HP:0010647 ! Abnormal elasticity of skin

[Term]
id: HP:0000978
name: Bruising susceptibility
alt_id: HP:0000959
alt_id: HP:0007433
alt_id: HP:0007472
def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson]
comment: An ecchymosis is defined as being larger than 1 cm in size.
synonym: "Bruisability" EXACT []
synonym: "Bruise easily" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Bruising susceptibility" EXACT layperson []
synonym: "Easy bruisability" EXACT layperson []
synonym: "Easy bruising" EXACT layperson []
xref: MSH:D004438
xref: SNOMEDCT_US:302227002
xref: SNOMEDCT_US:424131007
xref: SNOMEDCT_US:425075004
xref: SNOMEDCT_US:77643000
xref: UMLS:C0013491
xref: UMLS:C0423798
is_a: HP:0001933 ! Subcutaneous hemorrhage

[Term]
id: HP:0000979
name: Purpura
def: "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [HPO:probinson, PMID:11515831]
comment: Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm).
subset: hposlim_core
synonym: "Blood spots" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Red or purple spots on the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D011693
xref: SNOMEDCT_US:12393003
xref: SNOMEDCT_US:387778001
xref: SNOMEDCT_US:423902002
xref: UMLS:C0034150
is_a: HP:0001933 ! Subcutaneous hemorrhage

[Term]
id: HP:0000980
name: Pallor
def: "Abnormally pale skin." [HPO:probinson]
synonym: "Paleness" RELATED layperson []
synonym: "Skin paleness" RELATED layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D010167
xref: SNOMEDCT_US:398979000
xref: UMLS:C0030232
is_a: HP:0011121 ! Abnormality of skin morphology

[Term]
id: HP:0000982
name: Palmoplantar keratoderma
def: "Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [HPO:probinson]
synonym: "Palmar and plantar keratoderma" EXACT []
synonym: "Thickening of palms and soles" EXACT layperson []
xref: MSH:D007645
xref: SNOMEDCT_US:706885006
xref: UMLS:C0022596
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0000987
name: Atypical scarring of skin
def: "Atypically scarred skin ." [HPO:sdoelken]
synonym: "Atypical scarring" EXACT layperson []
synonym: "Atypical scarring of skin" EXACT layperson []
xref: UMLS:C4021786
is_a: HP:0011355 ! Localized skin lesion
is_a: HP:0100699 ! Scarring

[Term]
id: HP:0000988
name: Skin rash
def: "A red eruption of the skin." [HPO:probinson]
synonym: "Exanthem" EXACT []
synonym: "Rash" BROAD layperson []
synonym: "Skin rash" EXACT layperson []
xref: MEDDRA:10037844 "Rash"
xref: MSH:D005076
xref: SNOMEDCT_US:112625008
xref: SNOMEDCT_US:271807003
xref: UMLS:C0015230
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0000989
name: Pruritus
def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:probinson]
subset: hposlim_core
synonym: "Itching" EXACT layperson []
synonym: "Itchy skin" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "pruritis" EXACT []
synonym: "Skin itching" EXACT layperson []
xref: MSH:D011537
xref: SNOMEDCT_US:279333002
xref: SNOMEDCT_US:418290006
xref: SNOMEDCT_US:418363000
xref: SNOMEDCT_US:424492005
xref: UMLS:C0033774
is_a: HP:0011122 ! Abnormality of skin physiology

[Term]
id: HP:0000991
name: Xanthomatosis
def: "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [HPO:curators]
synonym: "Xanthomata" EXACT []
synonym: "Yellow bumps of fatty deposits on skin" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D014973
xref: SNOMEDCT_US:63103006
xref: UMLS:C0043325
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0000992
name: Cutaneous photosensitivity
alt_id: HP:0005594
alt_id: HP:0006831
alt_id: HP:0007538
def: "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:probinson]
subset: hposlim_core
synonym: "Photosensitive skin" EXACT layperson []
synonym: "Photosensitive skin rashes" EXACT layperson []
synonym: "Photosensitivity" EXACT layperson []
synonym: "Sensitivity to sunlight" EXACT layperson []
synonym: "Skin photosensitivity" EXACT layperson []
synonym: "Sun sensitivity" EXACT layperson []
xref: MSH:D010787
xref: SNOMEDCT_US:90128006
xref: UMLS:C0349506
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0000993
name: Molluscoid pseudotumors
def: "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [HPO:probinson]
synonym: "Molluscoid pseudotumor" EXACT []
xref: UMLS:C1844597
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0000995
name: Melanocytic nevus
def: "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger." [HPO:probinson]
comment: Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime.
synonym: "Beauty mark" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Melanocytic naevus" EXACT []
synonym: "Melanocytic nevi" EXACT []
synonym: "Nevocellular nevi" EXACT []
synonym: "Noncancerous mole" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Pigmented naevi" EXACT []
synonym: "Pigmented nevi" EXACT []
xref: MSH:D009508
xref: SNOMEDCT_US:21119008
xref: SNOMEDCT_US:400096001
xref: UMLS:C0027962
xref: UMLS:C4280269
is_a: HP:0001000 ! Abnormality of skin pigmentation
is_a: HP:0003764 ! Nevus

[Term]
id: HP:0000996
name: Facial capillary hemangioma
def: "Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face." []
xref: UMLS:C1858545
is_a: HP:0000329 ! Facial hemangioma
is_a: HP:0005306 ! Capillary hemangioma

[Term]
id: HP:0000997
name: Axillary freckling
def: "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [pmid:12186179]
subset: hposlim_core
xref: UMLS:C1860335
is_a: HP:0001480 ! Freckling

[Term]
id: HP:0000998
name: Hypertrichosis
def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:probinson]
synonym: "Excessive hair growth" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased hair growth on body" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D006983
xref: SNOMEDCT_US:271607001
xref: SNOMEDCT_US:29966009
xref: UMLS:C0020555
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0000999
name: Pyoderma
def: "Any manifestation of a skin disease associated with the production of pus." [HPO:probinson]
comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions.
synonym: "Pus-filled lesion" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D011711
xref: SNOMEDCT_US:70759006
xref: UMLS:C0034212
is_a: HP:0005406 ! Recurrent bacterial skin infections

[Term]
id: HP:0001000
name: Abnormality of skin pigmentation
alt_id: HP:0007582
alt_id: HP:0200045
def: "An abnormality of the pigmentation of the skin." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal pigmentation" EXACT layperson []
synonym: "Abnormal skin color" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Abnormal skin pigmentation" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of pigmentation" EXACT layperson []
synonym: "Abnormality of skin pigmentation" EXACT layperson []
synonym: "Pigmentary changes" EXACT layperson []
synonym: "Pigmentary skin changes" EXACT layperson []
synonym: "Pigmentation anomaly" EXACT layperson []
xref: UMLS:C1260926
is_a: HP:0011121 ! Abnormality of skin morphology

[Term]
id: HP:0001001
name: Abnormality of subcutaneous fat tissue
synonym: "Abnormality of fatty tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025813
is_a: HP:0009124 ! Abnormal adipose tissue morphology
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0001002
name: obsolete Decreased subcutaneous fat
is_obsolete: true
replaced_by: HP:0003758

[Term]
id: HP:0001003
name: Multiple lentigines
def: "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots." [HPO:probinson]
comment: Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands.
subset: hposlim_core
synonym: "Liver spots" NARROW layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:72100002
xref: UMLS:C0036651
xref: UMLS:C1328931
is_a: HP:0001034 ! Hypermelanotic macule

[Term]
id: HP:0001004
name: Lymphedema
alt_id: HP:0003605
def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system." [HPO:sdoelken]
synonym: "Lymphatic obstruction" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Lymphoedema" EXACT []
synonym: "Onset of lymphedema around puberty" EXACT []
synonym: "Swelling caused by excess lymph fluid under skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D008209
xref: SNOMEDCT_US:234097001
xref: SNOMEDCT_US:30213001
xref: UMLS:C0024236
xref: UMLS:C0240278
xref: UMLS:C1835229
is_a: HP:0000969 ! Edema

[Term]
id: HP:0001005
name: Dermatological manifestations of systemic disorders
subset: secondary_consequence
xref: UMLS:C4025812
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0001006
name: Hypotrichosis
alt_id: HP:0002551
alt_id: HP:0004525
alt_id: HP:0004874
def: "Congenital lack of hair growth." [HPO:probinson]
comment: Unlike alopecia, which describes hair loss where formerly there was hair growth, hypotrichosis describes a situation where there wasn't any hair growth in the first place.
subset: hposlim_core
synonym: "Congenital hypotrichosis" EXACT []
synonym: "Decreased hair growth on body" BROAD layperson []
synonym: "Hypotrichosis, infantile" EXACT []
synonym: "Marked hypotrichosis" EXACT []
synonym: "Sparse hair since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10021126 "Hypotrichosis"
xref: MSH:D007039
xref: SNOMEDCT_US:53602002
xref: SNOMEDCT_US:56558005
xref: UMLS:C0020678
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0001007
name: Hirsutism
def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [HPO:sdoelken]
synonym: "Excessive hairiness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D006628
xref: SNOMEDCT_US:399939002
xref: UMLS:C0019572
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0001008
name: Accumulation of melanosomes in melanocytes
xref: UMLS:C1843389
is_a: HP:0011125 ! Abnormality of dermal melanosomes

[Term]
id: HP:0001009
name: Telangiectasia
alt_id: HP:0001079
def: "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [HPO:probinson]
synonym: "Cutaneous telangiectasia" EXACT []
synonym: "Spider veins" RELATED layperson [ORCID:0000-0001-6908-9849]
synonym: "Telangiectases" EXACT []
xref: MSH:D013684
xref: SNOMEDCT_US:112641009
xref: SNOMEDCT_US:247479008
xref: UMLS:C0039446
xref: UMLS:C1138421
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0001010
name: Hypopigmentation of the skin
alt_id: HP:0005589
alt_id: HP:0007604
alt_id: HP:0007622
def: "A reduction of skin color related to a decrease in melanin production and deposition." [HPO:probinson]
synonym: "Hypopigmentation" EXACT []
synonym: "Hypopigmented skin" EXACT []
synonym: "Patchy lightened skin" EXACT layperson []
synonym: "Skin hypopigmentation" RELATED []
xref: MSH:D017496
xref: SNOMEDCT_US:18655006
xref: SNOMEDCT_US:201284005
xref: SNOMEDCT_US:23006000
xref: SNOMEDCT_US:89031001
xref: UMLS:C0162835
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001011
name: obsolete Diaphoresis (with pheochromocytoma)
is_obsolete: true
replaced_by: HP:0000975

[Term]
id: HP:0001012
name: Multiple lipomas
def: "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:sdoelken]
comment: A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children.
synonym: "Lipomas" RELATED []
synonym: "Lipomatosis" RELATED []
synonym: "Multiple fatty lumps" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D008067
xref: NCIT:C3192
xref: SNOMEDCT_US:404062002
xref: SNOMEDCT_US:46720004
xref: SNOMEDCT_US:93163002
xref: UMLS:C0023798
xref: UMLS:C0745730
is_a: HP:0012031 ! Lipomatous tumor

[Term]
id: HP:0001013
name: Eruptive xanthomas
def: "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur." [pmid:12165227, pmid:22375975]
comment: Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia.
xref: SNOMEDCT_US:238952003
xref: UMLS:C0221252
is_a: HP:0000991 ! Xanthomatosis

[Term]
id: HP:0001014
name: Angiokeratoma
def: "A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot." [HPO:probinson, pmid:8993949]
synonym: "Angiokeratomas" EXACT []
xref: MSH:D000794
xref: SNOMEDCT_US:26810009
xref: UMLS:C0002985
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0001015
name: Prominent superficial veins
def: "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal." []
comment: See Figure 4 of PMID:24456199
synonym: "Prominent veins" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1837785
is_a: HP:0002624 ! Abnormal venous morphology
is_a: HP:0007394 ! Prominent superficial blood vessels

[Term]
id: HP:0001017
name: Anemic pallor
def: "A type of pallor that is secondary to the presence of anemia." [HPO:probinson]
xref: UMLS:C4025811
is_a: HP:0000980 ! Pallor

[Term]
id: HP:0001018
name: Abnormal palmar dermatoglyphics
def: "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand." [HPO:probinson]
xref: UMLS:C4025810
is_a: HP:0007477 ! Abnormal dermatoglyphics
is_a: HP:0040211 ! Abnormality of the skin of the palm

[Term]
id: HP:0001019
name: Erythroderma
def: "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson]
synonym: "Exfoliative dermititis" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Generalized erythroderma" EXACT []
synonym: "Generalized erythrodermia" EXACT []
synonym: "Red scaly skin caused by inflammatory skin disease" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D003873
xref: SNOMEDCT_US:200948000
xref: SNOMEDCT_US:396349005
xref: SNOMEDCT_US:396350005
xref: SNOMEDCT_US:399992009
xref: SNOMEDCT_US:400005007
xref: UMLS:C0011606
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0001022
name: Albinism
def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [HPO:sdoelken]
synonym: "Achromasia" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Albinism" EXACT layperson []
xref: MSH:D000417
xref: SNOMEDCT_US:15890002
xref: SNOMEDCT_US:18064000
xref: UMLS:C0001916
xref: UMLS:C0333913
is_a: HP:0005599 ! Hypopigmentation of hair
is_a: HP:0007513 ! Generalized hypopigmentation

[Term]
id: HP:0001024
name: Skin dimple over apex of long bone angulation
xref: UMLS:C1855815
is_a: HP:0010781 ! Skin dimples

[Term]
id: HP:0001025
name: Urticaria
def: "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [HPO:probinson]
subset: hposlim_core
synonym: "Hives" EXACT layperson []
xref: MEDDRA:10046735 "Urticaria"
xref: MSH:D014581
xref: SNOMEDCT_US:126485001
xref: SNOMEDCT_US:247472004
xref: SNOMEDCT_US:64305001
xref: UMLS:C0042109
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0001026
name: Penetrating foot ulcers
synonym: "Penetrating foot ulcers" EXACT layperson []
xref: UMLS:C4025809
is_a: HP:0200042 ! Skin ulcer

[Term]
id: HP:0001027
name: Soft, doughy skin
def: "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough." []
synonym: "Soft, doughy skin" EXACT layperson []
xref: UMLS:C1849043
is_a: HP:0000977 ! Soft skin

[Term]
id: HP:0001028
name: Hemangioma
alt_id: HP:0007444
def: "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:probinson]
synonym: "Hemangiomata" RELATED []
synonym: "Strawberry mark" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D006391
xref: NCIT:C3085
xref: SNOMEDCT_US:2099007
xref: SNOMEDCT_US:253053003
xref: SNOMEDCT_US:400210000
xref: UMLS:C0018916
is_a: HP:0100742 ! Vascular neoplasm

[Term]
id: HP:0001029
name: Poikiloderma
def: "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias." [HPO:probinson]
comment: Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes.
subset: hposlim_core
xref: MEDDRA:10057041 "Poikiloderma"
xref: SNOMEDCT_US:402685001
xref: SNOMEDCT_US:70114006
xref: UMLS:C0392777
is_a: HP:0011121 ! Abnormality of skin morphology

[Term]
id: HP:0001030
name: Fragile skin
def: "Skin that splits easily with minimal injury." [HPO:probinson]
subset: hposlim_core
synonym: "Fragile skin" EXACT layperson []
synonym: "Skin fragility" EXACT layperson []
xref: MEDDRA:10040851 "Skin fragility"
xref: SNOMEDCT_US:247427007
xref: UMLS:C0241181
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0001031
name: Subcutaneous lipoma
def: "The presence of subcutaneous lipoma." [HPO:probinson]
xref: NCIT:C3192
xref: UMLS:C1403035
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue
is_a: HP:0001012 ! Multiple lipomas
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0001032
name: Absent distal interphalangeal creases
def: "Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators]
synonym: "Absence of skin creases over distal interphalangeal joints" EXACT []
synonym: "Aplasia of the distal interphalangeal creases" EXACT []
synonym: "Distal finger flexion creases absent" EXACT []
xref: UMLS:C1861349
is_a: HP:0006109 ! Absent phalangeal crease

[Term]
id: HP:0001033
name: Facial flushing after alcohol intake
subset: secondary_consequence
synonym: "Facial flushing after alcohol intake" EXACT layperson []
xref: UMLS:C4025808
is_a: HP:0031284 ! Flushing

[Term]
id: HP:0001034
name: Hypermelanotic macule
alt_id: HP:0007442
alt_id: HP:0007491
alt_id: HP:0007492
alt_id: HP:0100815
alt_id: HP:0200031
alt_id: HP:0200033
def: "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [DDD:cmoss]
synonym: "Hyperpigmented macules" EXACT []
synonym: "Hyperpigmented skin patches" RELATED layperson []
synonym: "Hyperpigmented spots" EXACT layperson []
xref: UMLS:C1842774
is_a: HP:0007400 ! Irregular hyperpigmentation
is_a: HP:0012733 ! Macule

[Term]
id: HP:0001036
name: Parakeratosis
def: "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes." [HPO:probinson]
comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis.
xref: MSH:D010241
xref: SNOMEDCT_US:200766001
xref: SNOMEDCT_US:65068000
xref: UMLS:C0030436
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0001038
name: Warfarin-induced skin necrosis
subset: secondary_consequence
xref: UMLS:C1867638
is_a: HP:0001005 ! Dermatological manifestations of systemic disorders

[Term]
id: HP:0001039
name: Atheroeruptive xanthoma
xref: UMLS:C4025807
is_a: HP:0000991 ! Xanthomatosis

[Term]
id: HP:0001040
name: Multiple pterygia
xref: UMLS:C1867448
is_a: HP:0001059 ! Pterygium

[Term]
id: HP:0001041
name: Facial erythema
alt_id: HP:0001068
def: "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
synonym: "Blushed cheeks" EXACT layperson []
synonym: "Blushing" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Red face" EXACT layperson []
synonym: "Red in the face" EXACT layperson []
synonym: "Rosacea" NARROW layperson [ORCID:0000-0001-6908-9849]
synonym: "Ruddy face" RELATED layperson []
xref: MSH:D001821
xref: MSH:D012393
xref: SNOMEDCT_US:20255002
xref: SNOMEDCT_US:271811009
xref: SNOMEDCT_US:398909004
xref: UMLS:C0005874
xref: UMLS:C0035854
xref: UMLS:C0239488
xref: UMLS:C4020880
is_a: HP:0010783 ! Erythema

[Term]
id: HP:0001042
name: High axial triradius
xref: UMLS:C4025806
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0001043
name: Prominent scalp veins
synonym: "Prominent scalp veins" EXACT layperson []
xref: UMLS:C1856542
is_a: HP:0001015 ! Prominent superficial veins
is_a: HP:0001965 ! Abnormality of the scalp
is_a: HP:3000036 ! Abnormality of head blood vessel

[Term]
id: HP:0001045
name: Vitiligo
synonym: "Blotchy loss of skin color" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D014820
xref: SNOMEDCT_US:56727007
xref: UMLS:C0042900
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001046
name: Intermittent jaundice
def: "Jaundice that is sometimes present, sometimes not." [HPO:curators]
subset: secondary_consequence
synonym: "Intermittent icterus" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Intermittent yellow skin" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Intermittent yellowing of skin" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025805
is_a: HP:0000952 ! Jaundice

[Term]
id: HP:0001047
name: Atopic dermatitis
alt_id: HP:0007533
alt_id: HP:0007564
def: "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage." [HPO:probinson, PMID:27904186]
comment: In infants, atopic dermatitis is known as infantile eczema.
synonym: "Atopic dermatitis, chronic" EXACT []
synonym: "Baby eczema" RELATED layperson [ORCID:0000-0001-6908-9849]
synonym: "Dermatitis, Atopic" EXACT []
xref: MSH:D003876
xref: SNOMEDCT_US:200775004
xref: SNOMEDCT_US:24079001
xref: UMLS:C0011615
xref: UMLS:C4280605
is_a: HP:0000964 ! Eczema

[Term]
id: HP:0001048
name: Cavernous hemangioma
def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:probinson]
subset: hposlim_core
synonym: "Cavernous angioma" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Cavernous haemangioma" EXACT []
synonym: "Collection of dilated blood vessels that forms mass" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10055899 "Haemangioma cavernous"
xref: MSH:D006392
xref: NCIT:C3086
xref: SNOMEDCT_US:33377007
xref: SNOMEDCT_US:416824008
xref: SNOMEDCT_US:56975005
xref: UMLS:C0018920
is_a: HP:0001028 ! Hemangioma

[Term]
id: HP:0001049
name: Absent dorsal skin creases over affected joints
xref: UMLS:C1861400
is_a: HP:0006143 ! Abnormal finger flexion creases

[Term]
id: HP:0001050
name: Plethora
comment: Related to polycythemia.
xref: SNOMEDCT_US:75246004
xref: UMLS:C0232370
is_a: HP:0001005 ! Dermatological manifestations of systemic disorders

[Term]
id: HP:0001051
name: Seborrheic dermatitis
alt_id: HP:0007562
def: "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators]
comment: Dandruff.
synonym: "Dysseborrheic dermatitis" RELATED []
synonym: "Seborrhea" EXACT []
synonym: "Seborrheic eczema" EXACT []
xref: MSH:D012628
xref: SNOMEDCT_US:50563003
xref: SNOMEDCT_US:86708008
xref: UMLS:C0036508
xref: UMLS:C3806554
is_a: HP:0000964 ! Eczema

[Term]
id: HP:0001052
name: Nevus flammeus
def: "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken, PMID:22483320]
comment: Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions.
subset: hposlim_core
synonym: "Nevus simplex" EXACT [ORCID:0000-0001-6908-9849]
synonym: "port-wine stain" EXACT layperson [HPO:SKOEHLER]
xref: MEDDRA:10067193 "Naevus flammeus"
xref: MSH:D019339
xref: SNOMEDCT_US:254211001
xref: SNOMEDCT_US:416377005
xref: UMLS:C0235752
is_a: HP:0003764 ! Nevus
is_a: HP:0025104 ! Capillary malformation

[Term]
id: HP:0001053
name: Hypopigmented skin patches
synonym: "Patchy loss of skin color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1836735
is_a: HP:0001010 ! Hypopigmentation of the skin
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0001054
name: Numerous nevi
synonym: "Multiple pigmented nevi" EXACT []
synonym: "Numerous moles" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1849677
is_a: HP:0003764 ! Nevus
is_a: HP:0010566 ! Hamartoma

[Term]
id: HP:0001055
name: Erysipelas
def: "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system." [HPO:probinson]
subset: hposlim_core
synonym: "St. Anthony's Fire" RELATED []
xref: MEDDRA:10015145 "Erysipelas"
xref: MSH:D004881
xref: MSH:D004886
xref: SNOMEDCT_US:44653001
xref: SNOMEDCT_US:51510002
xref: UMLS:C0014714
xref: UMLS:C0014733
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0001056
name: Milia
def: "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin." [HPO:probinson]
comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose.
subset: hposlim_core
synonym: "Milk spot" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Millium cyst" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:254679001
xref: SNOMEDCT_US:254683001
xref: SNOMEDCT_US:37719003
xref: UMLS:C0345996
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0001057
name: Aplasia cutis congenita
def: "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:probinson]
subset: hposlim_core
synonym: "Absence of part of skin at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Congenital absence of skin" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432]
synonym: "Congenital scars" BROAD [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432]
synonym: "Cutis aplasia" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432]
xref: MEDDRA:10002963 "Aplasia cutis congenita"
xref: MSH:D004476
xref: SNOMEDCT_US:254237003
xref: SNOMEDCT_US:35484002
xref: SNOMEDCT_US:74223008
xref: UMLS:C0265989
xref: UMLS:C0282160
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0001058
name: Poor wound healing
def: "A reduced ability to heal cutaneous wounds." [HPO:probinson]
subset: hposlim_core
synonym: "Poor wound healing" EXACT layperson []
xref: UMLS:C1851789
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0001059
name: Pterygium
def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:probinson]
synonym: "Pterygia" RELATED []
synonym: "Surfer's eye" NARROW layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D011625
xref: SNOMEDCT_US:77489003
xref: UMLS:C0033999
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0011356 ! Regional abnormality of skin

[Term]
id: HP:0001060
name: Axillary pterygium
def: "Presence of a cutaneous membrane (flap) in the armpit." []
synonym: "Axillary pterygia" EXACT HP:0045078 []
xref: UMLS:C1844738
is_a: HP:0001059 ! Pterygium

[Term]
id: HP:0001061
name: Acne
alt_id: HP:0005596
def: "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)." [HPO:probinson]
comment: Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule.
subset: hposlim_core
synonym: "Acne" EXACT layperson []
synonym: "Breaking out" BROAD layperson []
xref: MEDDRA:10000496 "Acne"
xref: SNOMEDCT_US:11381005
xref: UMLS:C0702166
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0001062
name: Atypical nevus
def: "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink." [HPO:probinson]
comment: Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance.
synonym: "Atypical mole" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Dysplastic Nevus" RELATED []
xref: MSH:D004416
xref: SNOMEDCT_US:254818000
xref: SNOMEDCT_US:61814002
xref: UMLS:C0205748
is_a: HP:0003764 ! Nevus

[Term]
id: HP:0001063
name: Acrocyanosis
synonym: "Persistent blue color of hands, feet, or parts of face" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:25003006
xref: UMLS:C0221347
is_a: HP:0000961 ! Cyanosis

[Term]
id: HP:0001065
name: Striae distensae
alt_id: HP:0001023
alt_id: HP:0001066
alt_id: HP:0100680
def: "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:probinson]
subset: hposlim_core
synonym: "Purplish striae" EXACT []
synonym: "Stretch marks" EXACT layperson []
synonym: "Striae" EXACT []
synonym: "Striae atrophicae" EXACT []
synonym: "Striae cutis distensae" EXACT []
xref: MEDDRA:10040925 "Skin striae"
xref: MSH:D057896
xref: SNOMEDCT_US:201066002
xref: SNOMEDCT_US:201067006
xref: SNOMEDCT_US:47212006
xref: UMLS:C0152459
is_a: HP:0004334 ! Dermal atrophy
is_a: HP:0100679 ! Lack of skin elasticity

[Term]
id: HP:0001067
name: Neurofibromas
alt_id: HP:0006746
alt_id: HP:0007386
alt_id: HP:0007612
def: "The presence of multiple cutaneous neurofibromas." [HPO:probinson]
synonym: "multiple neurofibromas" RELATED []
synonym: "Neurofibromata" EXACT []
synonym: "Neurofibromatosis" EXACT []
xref: MSH:D017253
xref: NCIT:C3272
xref: SNOMEDCT_US:19133005
xref: SNOMEDCT_US:81669005
xref: UMLS:C0162678
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0010614 ! Fibroma
is_a: HP:0100007 ! Neoplasm of the peripheral nervous system

[Term]
id: HP:0001069
name: Episodic hyperhidrosis
def: "Intermittent episodes of abnormally increased perspiration." [HPO:probinson]
synonym: "Hyperhidrosis, episodic" EXACT []
synonym: "Sporadic excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1857171
is_a: HP:0000975 ! Hyperhidrosis

[Term]
id: HP:0001070
name: Mottled pigmentation
alt_id: HP:0007584
def: "Patchy and irregular skin pigmentation." [HPO:probinson]
synonym: "Mottled skin coloring" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Stippled pigmentation" RELATED []
xref: UMLS:C0860439
xref: UMLS:C4020879
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001071
name: Angiokeratoma corporis diffusum
synonym: "Fabry syndrome" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D000795
xref: SNOMEDCT_US:124464003
xref: SNOMEDCT_US:16652001
xref: UMLS:C0002986
is_a: HP:0001014 ! Angiokeratoma

[Term]
id: HP:0001072
name: Thickened skin
alt_id: HP:0007393
def: "Laminar thickening of skin." [HPO:sdoelken]
subset: hposlim_core
synonym: "Diffusely thickened skin" RELATED layperson []
synonym: "Pachydermia" EXACT []
synonym: "Thick skin" EXACT layperson []
synonym: "Thickened skin" EXACT layperson []
xref: MEDDRA:10040936 "Skin thickening"
xref: SNOMEDCT_US:17417006
xref: SNOMEDCT_US:69943009
xref: UMLS:C0334008
xref: UMLS:C4020878
is_a: HP:0011121 ! Abnormality of skin morphology

[Term]
id: HP:0001073
name: Cigarette-paper scars
def: "Thin (atrophic) and wide scars." [HPO:probinson]
comment: Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows.
subset: hposlim_core
synonym: "'cigarette paper scarring'" EXACT layperson []
synonym: "Cigarette paper scarring" EXACT layperson []
synonym: "Cigarette-paper scars" EXACT layperson []
xref: UMLS:C1851828
is_a: HP:0001075 ! Atrophic scars

[Term]
id: HP:0001074
name: Atypical nevi in non-sun exposed areas
xref: UMLS:C4021837
is_a: HP:0003764 ! Nevus

[Term]
id: HP:0001075
name: Atrophic scars
alt_id: HP:0007567
def: "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin." [HPO:probinson]
subset: hposlim_core
synonym: "Sunken or indented skin due to damage" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Thin, atrophic scars" EXACT []
xref: SNOMEDCT_US:239172000
xref: SNOMEDCT_US:409766009
xref: UMLS:C0162154
is_a: HP:0000987 ! Atypical scarring of skin
is_a: HP:0004334 ! Dermal atrophy

[Term]
id: HP:0001076
name: Glabellar hemangioma
synonym: "Glabellar capillary hemangioma" EXACT []
xref: UMLS:C1854408
is_a: HP:0001028 ! Hemangioma

[Term]
id: HP:0001080
name: Biliary tract abnormality
def: "An abnormality of the biliary tree." [HPO:probinson]
synonym: "Biliary tract disease" RELATED []
xref: MSH:D001660
xref: SNOMEDCT_US:105997008
xref: UMLS:C0005424
xref: UMLS:C0549613
is_a: HP:0004297 ! Abnormality of the biliary system

[Term]
id: HP:0001081
name: Cholelithiasis
def: "Hard, pebble-like deposits that form within the gallbladder." [HPO:probinson]
comment: Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones.
synonym: "Gallstones" EXACT layperson []
xref: MSH:D002769
xref: SNOMEDCT_US:266474003
xref: UMLS:C0008350
is_a: HP:0012437 ! Abnormal gallbladder morphology

[Term]
id: HP:0001082
name: Cholecystitis
def: "The presence of inflammatory changes in the gallbladder." [HPO:probinson]
synonym: "Gallbladder inflammation" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D002764
xref: SNOMEDCT_US:76581006
xref: UMLS:C0008325
is_a: HP:0012438 ! Abnormal gallbladder physiology

[Term]
id: HP:0001083
name: Ectopia lentis
alt_id: HP:0000665
alt_id: HP:0007637
alt_id: HP:0007882
alt_id: HP:0008016
def: "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of lens position" EXACT []
synonym: "Lens dislocation" EXACT []
xref: MSH:D004479
xref: MSH:D007906
xref: SNOMEDCT_US:74969002
xref: UMLS:C0013581
xref: UMLS:C0023309
is_a: HP:0000517 ! Abnormality of the lens

[Term]
id: HP:0001084
name: Corneal arcus
alt_id: HP:0100741
def: "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [HPO:curators]
comment: A grey opaque line which surrounds the margin of the cornea caused by lipid deposits.
synonym: "Anterior embryotoxon" EXACT []
synonym: "Arcus juvenilis" RELATED []
synonym: "Arcus lipoidis" EXACT []
synonym: "Arcus senilis" EXACT []
synonym: "Corneal annulus" EXACT []
synonym: "Gerontoxon" EXACT []
xref: MSH:D001112
xref: SNOMEDCT_US:111522004
xref: SNOMEDCT_US:231924000
xref: SNOMEDCT_US:231925004
xref: UMLS:C0003742
xref: UMLS:C0339268
is_a: HP:0008011 ! Peripheral opacification of the cornea

[Term]
id: HP:0001085
name: Papilledema
alt_id: HP:0001130
def: "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:probinson]
comment: The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc.
subset: hposlim_core
xref: MSH:D010211
xref: SNOMEDCT_US:248487006
xref: SNOMEDCT_US:423341008
xref: SNOMEDCT_US:73221001
xref: UMLS:C0030353
is_a: HP:0012795 ! Abnormality of the optic disc

[Term]
id: HP:0001087
name: Developmental glaucoma
def: "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma." []
synonym: "Childhood glaucoma" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Infantile glaucoma" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Pediatric glaucoma" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D006871
xref: SNOMEDCT_US:204113001
xref: SNOMEDCT_US:413728006
xref: UMLS:C0020302
is_a: HP:0000501 ! Glaucoma
is_a: HP:0007700 ! Ocular anterior segment dysgenesis

[Term]
id: HP:0001088
name: Brushfield spots
def: "The presence of whitish spots in a ring-like arrangement at the periphery of the iris." [HPO:probinson]
comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome).
subset: hposlim_core
synonym: "Iris brushfield spots" EXACT []
synonym: "Speckled iris" RELATED layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:400960002
xref: UMLS:C1303007
xref: UMLS:C4280604
is_a: HP:0008034 ! Abnormal iris pigmentation

[Term]
id: HP:0001089
name: Iris atrophy
def: "Loss of iris tissue (atrophy)" [HPO:probinson]
synonym: "Iris degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:95709007
xref: UMLS:C0423319
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0001090
name: Abnormally large globe
alt_id: HP:0200093
def: "Diffusely large eye (with megalocornea) without glaucoma." [HPO:probinson]
comment: Note that Increased size of palpebral fissues is not a synonym of this term.
synonym: "Increased size of eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased size of palpebral fissures" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Large eyeballs" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Large eyes" EXACT layperson []
synonym: "Large of palpebral fissures" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Megalophthalmos" EXACT []
xref: SNOMEDCT_US:246920008
xref: UMLS:C0423221
xref: UMLS:C1855852
xref: UMLS:C4280603
is_a: HP:0100887 ! Abnormality of globe size

[Term]
id: HP:0001092
name: Absent lacrimal punctum
alt_id: HP:0007977
def: "No identifiable superior and/or inferior lacrimal punctum." [pmid:19125427]
comment: The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border.
subset: hposlim_core
synonym: "Absent lacrimal gland puncta" EXACT []
synonym: "Absent lacrimal openings" EXACT []
synonym: "Absent lacrimal puncta" EXACT []
synonym: "Agenesis of the lacrimal punctum" RELATED []
synonym: "Aplasia of lacrimal puncta" EXACT []
synonym: "Lacrimal puncta aplasia" EXACT []
synonym: "Lacrimal punctum, absence" EXACT []
xref: MSH:C566703
xref: SNOMEDCT_US:204208005
xref: SNOMEDCT_US:253217007
xref: UMLS:C0344509
xref: UMLS:C1867060
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology

[Term]
id: HP:0001093
name: Optic nerve dysplasia
def: "The presence of developmental dysplasia of the optic nerve." [HPO:probinson]
xref: UMLS:C2676026
is_a: HP:0000587 ! Abnormality of the optic nerve

[Term]
id: HP:0001094
name: Iridocyclitis
def: "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body." [HPO:probinson]
xref: MSH:D015863
xref: SNOMEDCT_US:77971008
xref: UMLS:C0022073
is_a: HP:0012122 ! Anterior uveitis

[Term]
id: HP:0001095
name: Hypertensive retinopathy
subset: secondary_consequence
xref: MSH:D058437
xref: SNOMEDCT_US:6962006
xref: UMLS:C0152132
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0001096
name: Keratoconjunctivitis
def: "Inflammation of the cornea and conjunctiva." [HPO:probinson]
subset: hposlim_core
xref: MSH:D007637
xref: SNOMEDCT_US:88151007
xref: UMLS:C0022573
is_a: HP:0000491 ! Keratitis
is_a: HP:0000509 ! Conjunctivitis

[Term]
id: HP:0001097
name: Keratoconjunctivitis sicca
def: "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:probinson]
subset: hposlim_core
synonym: "Dry eye syndrome" RELATED layperson []
synonym: "Dry eyes" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Keratitis sicca" EXACT []
synonym: "Xerophthalmia" EXACT []
xref: MSH:C531719
xref: MSH:D007638
xref: MSH:D014985
xref: MSH:D015352
xref: SNOMEDCT_US:302896008
xref: SNOMEDCT_US:363677007
xref: SNOMEDCT_US:46152009
xref: UMLS:C0013238
xref: UMLS:C0022575
xref: UMLS:C0043349
xref: UMLS:C2930821
is_a: HP:0001096 ! Keratoconjunctivitis

[Term]
id: HP:0001098
name: Abnormal fundus morphology
def: "Any structural abnormality of the fundus of the eye." []
synonym: "Abnormality of the fundus" EXACT []
xref: UMLS:C4025804
is_a: HP:0004329 ! Abnormal posterior eye segment morphology

[Term]
id: HP:0001099
name: Fundus atrophy
xref: UMLS:C2673929
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0001100
name: Heterochromia iridis
def: "Heterochromia iridis is a difference in the color of the iris in the two eyes." [HPO:probinson]
subset: hposlim_core
synonym: "Different colored eyes" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Heterochromia irides" EXACT []
xref: MSH:C538115
xref: SNOMEDCT_US:247033008
xref: UMLS:C0423318
is_a: HP:0200064 ! Asymmetry of iris pigmentation

[Term]
id: HP:0001101
name: Iritis
def: "Inflammation of the iris." [HPO:probinson]
synonym: "Inflammation of iris" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D007500
xref: SNOMEDCT_US:65074000
xref: UMLS:C0022081
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0001102
name: Angioid streaks of the fundus
def: "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic." [HPO:probinson, ORCID:0000-0003-0986-4123]
comment: Angioid streaks result from breaks in a weakened Bruch's membrane.
synonym: "Angioid streaks" EXACT []
synonym: "Angioid streaks of the retina" EXACT []
synonym: "Angioid streaks, retina" EXACT []
synonym: "Laquer cracks of the retina" EXACT []
xref: MSH:D000793
xref: UMLS:C0002982
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0001103
name: Abnormal macular morphology
def: "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina." [HPO:probinson, PMID:16255686]
comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of  the  eye,  appearing  as  a  yellow  spot (macula  lutea),  when  viewed  in  red-free light.
subset: hposlim_core
synonym: "Abnormality of the macula" EXACT []
synonym: "Macula abnormality" EXACT []
synonym: "Macular abnormality" EXACT []
xref: SNOMEDCT_US:312999006
xref: UMLS:C0730362
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0001104
name: Macular hypoplasia
def: "Underdevelopment of the macula lutea." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C1849412
is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula

[Term]
id: HP:0001105
name: Retinal atrophy
def: "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [ORCID:0000-0003-0986-4123]
xref: MSH:D012162
xref: SNOMEDCT_US:405722004
xref: SNOMEDCT_US:95695004
xref: UMLS:C0035304
xref: UMLS:C0521694
is_a: HP:0000546 ! Retinal degeneration

[Term]
id: HP:0001106
name: Periorbital hyperpigmentation
def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [HPO:probinson]
synonym: "Dark circles around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Dark circles under the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Darkening around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Idiopathic cutaneous hyperchromia at the orbital region" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Infraorbital pigmentation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Periorbital melanosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pigmentation around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1844606
is_a: HP:0000606 ! Abnormality of the periorbital region
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001107
name: Ocular albinism
alt_id: HP:0007745
alt_id: HP:0007837
def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina." [HPO:probinson]
comment: Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia.
synonym: "Absent pigmentation in the eye" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Albinism, Ocular" EXACT []
xref: MSH:D016117
xref: SNOMEDCT_US:26399002
xref: UMLS:C0078917
is_a: HP:0001098 ! Abnormal fundus morphology
is_a: HP:0007730 ! Iris hypopigmentation

[Term]
id: HP:0001112
name: Leber optic atrophy
alt_id: HP:0001086
def: "Degeneration of retinal ganglion cells and their axons." [HPO:probinson]
synonym: "Leber optic atrophy features" EXACT []
synonym: "Leber optic degeneration" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D029242
xref: SNOMEDCT_US:58610003
xref: UMLS:C0917796
is_a: HP:0000587 ! Abnormality of the optic nerve

[Term]
id: HP:0001113
name: obsolete Early cataracts
is_obsolete: true
replaced_by: HP:0000518

[Term]
id: HP:0001114
name: Xanthelasma
def: "The presence of xanthomata in the skin of the eyelid." [HPO:curators]
synonym: "Fatty deposits in skin around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Fatty deposits on eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Xanthelasma of eyelid" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Xanthelasma of periocular region" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Xanthelasma palpebrarum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Xanthoma" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Xanthoma of eyelid" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Xanthoma of periocular region" NARROW [ORCID:0000-0001-5889-4463]
xref: MSH:D014973
xref: SNOMEDCT_US:63103006
xref: SNOMEDCT_US:6400008
xref: SNOMEDCT_US:75594004
xref: UMLS:C0155210
xref: UMLS:C0302314
xref: UMLS:C4280601
xref: UMLS:C4280602
is_a: HP:0000991 ! Xanthomatosis
is_a: HP:0010732 ! Nodular changes affecting the eyelids

[Term]
id: HP:0001115
name: Posterior polar cataract
def: "A polar cataract that affects the posterior pole of the lens." [HPO:probinson]
xref: UMLS:C1850191
is_a: HP:0010696 ! Polar cataract

[Term]
id: HP:0001116
name: Macular coloboma
def: "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented." [DDD:gblack, PMID:15069441]
xref: MSH:C535968
xref: UMLS:C1852767
is_a: HP:0000480 ! Retinal coloboma
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0001117
name: Sudden loss of visual acuity
def: "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy." [HPO:probinson]
synonym: "Sudden central visual loss" RELATED []
synonym: "Sudden decrease in vision" BROAD layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025803
xref: UMLS:C4072828
xref: UMLS:C4280600
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0001118
name: Juvenile cataract
def: "A type of cataract that is not apparent at birth but that arises in childhood or adolescence." [HPO:probinson]
comment: Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral).
xref: SNOMEDCT_US:399336001
xref: UMLS:C0302254
is_a: HP:0000518 ! Cataract

[Term]
id: HP:0001119
name: Keratoglobus
def: "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [pmid:19667340]
subset: hposlim_core
xref: UMLS:C3887531
is_a: HP:0007700 ! Ocular anterior segment dysgenesis
is_a: HP:0100689 ! Decreased corneal thickness
is_a: HP:0100692 ! Increased corneal curvature

[Term]
id: HP:0001120
name: Abnormality of corneal size
def: "Any abnormality of the size or morphology of the cornea." [HPO:curators]
xref: UMLS:C4025802
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0001122
name: obsolete Aplasia/Hypoplasia of the choroid
is_obsolete: true
consider: HP:0000610

[Term]
id: HP:0001123
name: Visual field defect
synonym: "Partial loss of field of vision" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Visual field defects" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:12184005
xref: UMLS:C3887875
is_a: HP:0000505 ! Visual impairment

[Term]
id: HP:0001125
name: Transient unilateral blurring of vision
alt_id: HP:0000583
def: "Transient blurring of vision associated with the aura phase of migraine." [HPO:probinson]
comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens.
synonym: "Hemianopic blurring" RELATED []
synonym: "Hemianoptic blurring of vision" EXACT []
synonym: "Transient unilateral blurred vision" EXACT []
xref: UMLS:C1865332
is_a: HP:0000622 ! Blurred vision

[Term]
id: HP:0001126
name: Cryptophthalmos
alt_id: HP:0008032
def: "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [HPO:probinson, pmid:19125427]
comment: Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin.
subset: hposlim_core
xref: SNOMEDCT_US:400951005
xref: UMLS:C0311249
is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid

[Term]
id: HP:0001128
name: Trichiasis
def: "Inversion and rubbing of the eyelashes against the globe of the eye." [HPO:curators]
comment: Eyelash inversion.
synonym: "Ingrown eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Introversion of eyelashes" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Trichiasis of eyelid eyelashes" EXACT []
xref: MSH:D058457
xref: SNOMEDCT_US:60332004
xref: UMLS:C0221259
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0001129
name: Large central visual field defect
synonym: "Large central loss of field of vision" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025800
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0001131
name: Corneal dystrophy
alt_id: HP:0007775
def: "An abnormality of the cornea that is characterized by opacity of one or parts of the cornea." [HPO:probinson]
subset: hposlim_core
xref: SNOMEDCT_US:5587004
xref: UMLS:C0010036
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0001132
name: Lens subluxation
def: "Partial dislocation of the lens of the eye." [HPO:probinson]
comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis).
synonym: "Partially dislocated lens" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D007906
xref: SNOMEDCT_US:65814009
xref: UMLS:C0023316
is_a: HP:0001083 ! Ectopia lentis

[Term]
id: HP:0001133
name: Constriction of peripheral visual field
alt_id: HP:0007887
alt_id: HP:0007981
def: "An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye." [ORCID:0000-0003-0986-4123]
synonym: "Concentric narrowing of visual field" EXACT []
synonym: "Constricted visual field" EXACT []
synonym: "Constricted visual fields" EXACT [HPO:skoehler]
synonym: "Limited peripheral vision" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Visual field constriction" EXACT []
xref: SNOMEDCT_US:1151008
xref: SNOMEDCT_US:267628004
xref: UMLS:C0235095
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0001134
name: Anterior polar cataract
def: "A polar cataract that affects the anterior pole of the lens." [HPO:probinson]
xref: MSH:C538282
xref: UMLS:C1855179
is_a: HP:0010696 ! Polar cataract

[Term]
id: HP:0001135
name: Chorioretinal dystrophy
alt_id: HP:0007712
alt_id: HP:0007920
xref: UMLS:C1857627
is_a: HP:0000532 ! Abnormal chorioretinal morphology
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0001136
name: Retinal arteriolar tortuosity
def: "The presence of an increased number of twists and turns of the retinal arterioles." [HPO:probinson]
synonym: "Tortuous retinal arterioles" EXACT []
xref: UMLS:C1843517
is_a: HP:0000630 ! Abnormal retinal artery morphology
is_a: HP:0012841 ! Retinal vascular tortuosity

[Term]
id: HP:0001137
name: Alternating esotropia
def: "Esotropia in which either eye may be used for fixation." [ORCID:0000-0003-0986-4123]
comment: Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time).
synonym: "Alternating cross eyes" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:39837002
xref: UMLS:C0152205
is_a: HP:0000565 ! Esotropia

[Term]
id: HP:0001138
name: Optic neuropathy
alt_id: HP:0007806
synonym: "Damaged optic nerve" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:82108004
xref: UMLS:C3887709
is_a: HP:0000587 ! Abnormality of the optic nerve

[Term]
id: HP:0001139
name: Choroideremia
xref: MSH:D015794
xref: SNOMEDCT_US:75241009
xref: UMLS:C0008525
is_a: HP:0000610 ! Abnormal choroid morphology

[Term]
id: HP:0001140
name: Limbal dermoid
def: "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:probinson]
subset: hposlim_core
synonym: "Benign eye tumor" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Epibulbar dermoid" EXACT []
synonym: "Epibulbar dermoids" EXACT HP:0045078 []
xref: SNOMEDCT_US:5131000119107
xref: SNOMEDCT_US:92097004
xref: UMLS:C0496897
xref: UMLS:C1867616
is_a: HP:0000481 ! Abnormal cornea morphology
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0000591 ! Abnormal sclera morphology

[Term]
id: HP:0001141
name: Severely reduced visual acuity
alt_id: HP:0007640
alt_id: HP:0007842
alt_id: HP:0007951
alt_id: HP:0008023
def: "Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation)." [PMID:28779882]
synonym: "Marked vision impairment" EXACT layperson []
synonym: "Severe reduction in visual acuity" EXACT []
synonym: "Severe vision loss" EXACT []
synonym: "Severe visual impairment" EXACT layperson []
synonym: "Severe visual loss" EXACT []
synonym: "Severely impaired vision" EXACT layperson []
xref: SNOMEDCT_US:397541004
xref: UMLS:C1301509
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0001142
name: Lenticonus
def: "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly." [DDD:ncarter]
comment: A conical projection of the anterior or posterior surface of the lens.
subset: hposlim_core
xref: SNOMEDCT_US:253221000
xref: UMLS:C0239119
is_a: HP:0011526 ! Abnormality of lens shape

[Term]
id: HP:0001144
name: Orbital cyst
def: "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [HPO:probinson]
synonym: "Cyst of eye socket" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Orbital cysts" EXACT []
xref: SNOMEDCT_US:31021007
xref: UMLS:C0155285
is_a: HP:0000315 ! Abnormality of the orbital region

[Term]
id: HP:0001145
name: obsolete Chorioretinopathy
is_obsolete: true
consider: HP:0000532

[Term]
id: HP:0001146
name: obsolete Pigmentary retinal degeneration
is_obsolete: true
replaced_by: HP:0000580

[Term]
id: HP:0001147
name: Retinal exudate
def: "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina." [HPO:probinson]
comment: Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema.
synonym: "Retinal exudates" EXACT []
xref: SNOMEDCT_US:39832008
xref: UMLS:C0240897
is_a: HP:0030506 ! Yellow/white lesions of the retina

[Term]
id: HP:0001149
name: Lattice corneal dystrophy
def: "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [HPO:curators]
synonym: "Biber haab dimmer dystrophy" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D028227
xref: SNOMEDCT_US:1192004
xref: SNOMEDCT_US:361199007
xref: UMLS:C0155127
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0001150
name: obsolete Choroidal sclerosis
is_obsolete: true
consider: HP:0000532

[Term]
id: HP:0001151
name: Impaired horizontal smooth pursuit
def: "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects." [HPO:probinson]
synonym: "Abnormal horizontal ocular pursuit" EXACT []
synonym: "Impaired horizontal visual pursuit" EXACT []
xref: UMLS:C1866753
is_a: HP:0007772 ! Impaired smooth pursuit

[Term]
id: HP:0001152
name: Saccadic smooth pursuit
alt_id: HP:0000530
def: "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements." [HPO:probinson]
comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target.
synonym: "Saccadic pursuit movements" EXACT []
synonym: "Saccadic slow pursuit" EXACT []
xref: UMLS:C1836479
is_a: HP:0000617 ! Abnormality of ocular smooth pursuit

[Term]
id: HP:0001153
name: Septate vagina
def: "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [HPO:curators]
synonym: "Double vagina" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:47054003
xref: UMLS:C0266411
is_a: HP:0000142 ! Abnormal vagina morphology

[Term]
id: HP:0001155
name: Abnormality of the hand
alt_id: HP:0005858
def: "An abnormality affecting one or both hands." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal hands" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the hand" EXACT layperson []
synonym: "Hand anomalies" EXACT layperson []
synonym: "Hand deformities" EXACT layperson []
xref: MSH:D006226
xref: SNOMEDCT_US:299033004
xref: UMLS:C0018564
is_a: HP:0002817 ! Abnormality of the upper limb

[Term]
id: HP:0001156
name: Brachydactyly
alt_id: HP:0001189
alt_id: HP:0001201
alt_id: HP:0005630
alt_id: HP:0005657
alt_id: HP:0005727
alt_id: HP:0006017
alt_id: HP:0006128
alt_id: HP:0100667
def: "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." [HPO:probinson]
synonym: "Brachydactyly syndrome" EXACT []
synonym: "Short fingers or toes" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D059327
xref: SNOMEDCT_US:43476002
xref: UMLS:C0221357
is_a: HP:0011927 ! Short digit

[Term]
id: HP:0001159
name: Syndactyly
alt_id: HP:0001206
alt_id: HP:0001236
def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\"." [HPO:probinson]
comment: Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip.
synonym: "Webbed fingers or toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:4174
xref: MSH:D013576
xref: SNOMEDCT_US:373413006
xref: UMLS:C0039075
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0001161
name: Hand polydactyly
def: "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [HPO:probinson]
subset: hposlim_core
synonym: "Extra finger" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Finger polydactyly" EXACT []
synonym: "Polydactyly of the hand" EXACT []
synonym: "Supernumerary finger" EXACT [ORCID:0000-0001-6908-9849]
xref: MEDDRA:10036064 "Polydactyly of fingers"
xref: SNOMEDCT_US:81793007
xref: UMLS:C0158733
is_a: HP:0009997 ! Duplication of phalanx of hand
is_a: HP:0010442 ! Polydactyly

[Term]
id: HP:0001162
name: Postaxial hand polydactyly
alt_id: HP:0004698
alt_id: HP:0005763
alt_id: HP:0009984
def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [HPO:sdoelken]
subset: hposlim_core
synonym: "Extra little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Extra pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Extra pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Polydactyly affecting the 5th finger" EXACT []
synonym: "Polydactyly, postaxial" EXACT []
synonym: "Postaxial polydactyly of fingers" EXACT []
synonym: "Postaxial polydactyly of hand" EXACT []
synonym: "Postaxial polydactyly of hands" EXACT []
xref: SNOMEDCT_US:205131007
xref: UMLS:C0431904
is_a: HP:0001161 ! Hand polydactyly
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0100259 ! Postaxial polydactyly

[Term]
id: HP:0001163
name: Abnormality of the metacarpal bones
def: "An abnormality of the metacarpal bones." [HPO:probinson]
synonym: "Abnormality of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Anomaly of the metacarpal bones" EXACT []
xref: UMLS:C4021785
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0040070 ! Abnormal upper limb bone morphology

[Term]
id: HP:0001166
name: Arachnodactyly
alt_id: HP:0001505
def: "Abnormally long and slender fingers (\"spider fingers\")." [HPO:probinson]
synonym: "Long slender fingers" EXACT layperson []
synonym: "Long, slender fingers" EXACT []
synonym: "Spider fingers" EXACT layperson []
xref: MSH:D054119
xref: SNOMEDCT_US:62250003
xref: UMLS:C0003706
is_a: HP:0001238 ! Slender finger
is_a: HP:0100807 ! Long fingers

[Term]
id: HP:0001167
name: Abnormality of finger
alt_id: HP:0003035
def: "An anomaly of a finger." [HPO:probinson]
synonym: "Abnormalities of the fingers" EXACT layperson []
synonym: "Abnormality of finger" EXACT layperson []
xref: UMLS:C2674737
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0001169
name: Broad palm
alt_id: HP:0001174
def: "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length." [HPO:probinson, pmid:19125433]
comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ).
synonym: "Broad hand" EXACT layperson []
synonym: "Broad hands" EXACT layperson [HPO:skoehler]
synonym: "Broad palm" EXACT layperson []
synonym: "Wide palm" EXACT layperson []
xref: SNOMEDCT_US:48251003
xref: UMLS:C0264142
is_a: HP:0100871 ! Abnormality of the palm

[Term]
id: HP:0001171
name: Split hand
alt_id: HP:0001247
alt_id: HP:0003050
def: "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands." [HPO:sdoelken]
synonym: "Claw hand" EXACT layperson []
synonym: "Claw hand deformities" EXACT layperson []
synonym: "Claw hands" EXACT layperson []
synonym: "Claw-hand deformities" EXACT layperson []
synonym: "Ectrodactyly of the hand" EXACT []
synonym: "Hand ectrodactyly" EXACT []
synonym: "Split hand" EXACT layperson []
synonym: "Split-hand" EXACT layperson []
xref: SNOMEDCT_US:299034005
xref: UMLS:C0221373
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0100257 ! Ectrodactyly

[Term]
id: HP:0001172
name: Abnormal thumb morphology
def: "An abnormal structure of the first digit of the hand." []
synonym: "Abnormality of the thumb" EXACT layperson []
synonym: "Abnormality of the thumbs" EXACT layperson []
synonym: "Thumb deformity" EXACT layperson []
xref: MSH:C536903
xref: SNOMEDCT_US:299130003
xref: UMLS:C0575897
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0001176
name: Large hands
alt_id: HP:0002820
alt_id: HP:0006044
alt_id: HP:0006219
synonym: "Disproportionately large hands" EXACT []
synonym: "large hand" EXACT layperson []
synonym: "Large hands" EXACT layperson []
xref: SNOMEDCT_US:249752003
xref: UMLS:C0426870
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0001177
name: Preaxial hand polydactyly
alt_id: HP:0005629
alt_id: HP:0005634
alt_id: HP:0006182
alt_id: HP:0009604
def: "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:probinson]
synonym: "Extra thumb" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Polydactyly affecting the thumb" EXACT []
synonym: "Preaxial polydactyly of hands" EXACT []
synonym: "Supernumerary thumb" EXACT [ORCID:0000-0001-6908-9849]
synonym: "thumb polydactyly" EXACT []
xref: MSH:C536332
xref: SNOMEDCT_US:205135003
xref: SNOMEDCT_US:445216006
xref: UMLS:C1395852
is_a: HP:0001161 ! Hand polydactyly
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0100258 ! Preaxial polydactyly

[Term]
id: HP:0001178
name: Ulnar claw
def: "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm." [HPO:probinson]
comment: An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand.
xref: UMLS:C4025799
is_a: HP:0001155 ! Abnormality of the hand

[Term]
id: HP:0001180
name: Hand oligodactyly
def: "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:probinson]
synonym: "Hand has less than 5 fingers" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:71358006
xref: UMLS:C0728895
is_a: HP:0009380 ! Aplasia of the fingers
is_a: HP:0012165 ! Oligodactyly

[Term]
id: HP:0001181
name: Adducted thumb
alt_id: HP:0005646
def: "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [pmid:19125433]
comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3.
synonym: "Adducted thumbs" EXACT []
synonym: "Inward turned thumb" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C3554617
is_a: HP:0001172 ! Abnormal thumb morphology

[Term]
id: HP:0001182
name: Tapered finger
alt_id: HP:0005795
alt_id: HP:0005800
alt_id: HP:0006032
alt_id: HP:0006080
alt_id: HP:0006098
alt_id: HP:0006111
alt_id: HP:0006125
alt_id: HP:0006244
alt_id: HP:0007532
def: "The gradual reduction in girth of the finger from proximal to distal." [pmid:19125433]
subset: hposlim_core
synonym: "Distally tapering fingers" EXACT []
synonym: "Tapered finger" EXACT layperson []
synonym: "Tapered fingers" RELATED [HPO:skoehler]
synonym: "Tapered fingertips" EXACT layperson []
synonym: "Tapering fingers" EXACT layperson []
xref: SNOMEDCT_US:249768009
xref: UMLS:C0426886
is_a: HP:0100807 ! Long fingers

[Term]
id: HP:0001187
name: Hyperextensibility of the finger joints
alt_id: HP:0006158
def: "The ability of the finger joints to move beyond their normal range of motion." [HPO:curators]
synonym: "Finger joint hyperextensibility" EXACT layperson []
synonym: "Hyperextensible digits" EXACT layperson []
synonym: "Hyperextensible finger" EXACT layperson []
synonym: "Hyperextensible fingers" RELATED layperson []
xref: UMLS:C1844577
is_a: HP:0006094 ! Finger joint hypermobility

[Term]
id: HP:0001188
name: Hand clenching
def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints." [HPO:sdoelken, pmid:10085502]
comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately.
subset: hposlim_core
synonym: "Clenched hands" EXACT layperson []
synonym: "Hand clenching" EXACT layperson []
xref: UMLS:C0239815
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0001191
name: Abnormality of the carpal bones
def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal carpal bones" EXACT []
synonym: "Abnormal wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Anomalous carpal bones" EXACT []
synonym: "Carpal bone anomalies" EXACT []
xref: UMLS:C1840535
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0003019 ! Abnormality of the wrist

[Term]
id: HP:0001193
name: Ulnar deviation of the hand or of fingers of the hand
xref: UMLS:C4048199
is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand

[Term]
id: HP:0001194
name: Abnormalities of placenta or umbilical cord
def: "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)." [HPO:curators]
synonym: "Abnormalities of placenta or umbilical cord" EXACT layperson []
xref: UMLS:C4025798
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001195
name: Single umbilical artery
def: "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [HPO:probinson]
comment: The umbilical cord normally has two arteries and one vein.
synonym: "2 vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "2 vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Only one artery in umbilical cord instead of two" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Two vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Two vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D058529
xref: SNOMEDCT_US:204470001
xref: UMLS:C1384670
is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system
is_a: HP:0011403 ! Abnormal umbilical cord blood vessels
is_a: HP:0011425 ! Fetal ultrasound soft marker

[Term]
id: HP:0001196
name: Short umbilical cord
def: "Decreased length of the umbilical cord." [HPO:probinson]
synonym: "Short umbilical cord" EXACT layperson []
xref: SNOMEDCT_US:59795007
xref: UMLS:C0266786
is_a: HP:0010881 ! Abnormality of the umbilical cord

[Term]
id: HP:0001197
name: Abnormality of prenatal development or birth
def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [HPO:probinson]
comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality.
synonym: "Abnormality of prenatal development or birth" EXACT layperson []
xref: UMLS:C4025797
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001199
name: Triphalangeal thumb
alt_id: HP:0005846
alt_id: HP:0006194
alt_id: HP:0009610
alt_id: HP:0009619
def: "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:probinson, pmid:19125433]
comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb.
subset: hposlim_core
synonym: "Accessory phalanx of the thumb" EXACT []
synonym: "Digitalized thumb" EXACT []
synonym: "Finger-like thumb" EXACT layperson []
synonym: "Triphalangeal thumbs" EXACT []
synonym: "Triphalangy of thumb" EXACT []
xref: MSH:C573898
xref: SNOMEDCT_US:205308004
xref: UMLS:C0241397
is_a: HP:0009602 ! Abnormality of thumb phalanx

[Term]
id: HP:0001204
name: Distal symphalangism of hands
alt_id: HP:0006079
alt_id: HP:0006116
alt_id: HP:0009841
alt_id: HP:0009871
def: "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [HPO:sdoelken]
synonym: "Fused outermost bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT []
synonym: "Symphalangism, distal" EXACT []
synonym: "Synostosis of distal phalanges" EXACT []
synonym: "Terminal symphalangism" EXACT []
xref: UMLS:C1862158
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
is_a: HP:0100263 ! Distal symphalangism

[Term]
id: HP:0001211
name: Abnormal fingertip morphology
def: "An abnormal structure of the tip (end) of a finger." []
synonym: "Abnormality of the fingertips" EXACT layperson []
xref: UMLS:C4025796
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0001212
name: Prominent fingertip pads
alt_id: HP:0001235
def: "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:probinson]
subset: hposlim_core
synonym: "Persistence of fingerpads" EXACT []
synonym: "Persistent fetal fingertip pads" EXACT []
synonym: "Prominent finger pads" EXACT layperson []
synonym: "Prominent fingertip pads" EXACT layperson []
xref: UMLS:C1835807
is_a: HP:0001211 ! Abnormal fingertip morphology
is_a: HP:0011298 ! Prominent digit pad

[Term]
id: HP:0001215
name: Camptodactyly of 2nd-5th fingers
def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson]
xref: UMLS:C1859368
is_a: HP:0100490 ! Camptodactyly of finger

[Term]
id: HP:0001216
name: Delayed ossification of carpal bones
def: "Ossification of carpal bones occurs later than age-adjusted norms." [HPO:probinson]
subset: hposlim_core
synonym: "Carpal delayed ossification" EXACT []
synonym: "Delayed carpal bone age" EXACT []
synonym: "Delayed carpal ossification" EXACT []
synonym: "Delayed maturation of carpal bones" EXACT []
synonym: "Delayed maturation of wrist bone" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1841684
xref: UMLS:C4280599
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0001217
name: Clubbing
alt_id: HP:0003036
alt_id: HP:0005874
def: "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [HPO:sdoelken, pmid:19125433]
comment: Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers).
synonym: "Clubbing of fingers and toes" EXACT layperson []
synonym: "Digital clubbing" EXACT []
xref: SNOMEDCT_US:367004
xref: UMLS:C0149651
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0001218
name: Autoamputation
def: "Spontaneous detachment (amputation) of an appendage from the body." [HPO:probinson]
xref: UMLS:C1833222
is_a: HP:0040064 ! Abnormality of limbs

[Term]
id: HP:0001220
name: Interphalangeal joint contracture of finger
def: "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue." [HPO:probinson]
synonym: "Interphalangeal joint flexion contractures" EXACT []
xref: UMLS:C4021784
is_a: HP:0012785 ! Flexion contracture of finger

[Term]
id: HP:0001222
name: Spatulate thumbs
def: "Spoon-shaped, broad thumbs." [HPO:curators]
synonym: "Spoon shaped thumbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0241395
is_a: HP:0011304 ! Broad thumb

[Term]
id: HP:0001223
name: Pointed proximal second through fifth metacarpals
def: "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators]
xref: UMLS:C1854787
is_a: HP:0006119 ! Proximal tapering of metacarpals

[Term]
id: HP:0001225
name: Wrist swelling
synonym: "Wrist swelling" EXACT layperson []
xref: UMLS:C0241760
is_a: HP:0003019 ! Abnormality of the wrist

[Term]
id: HP:0001226
name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits
is_obsolete: true
replaced_by: HP:0006121

[Term]
id: HP:0001227
name: Abnormality of the thenar eminence
def: "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb." [HPO:curators]
synonym: "Thenar abnormality" EXACT []
xref: UMLS:C4021783
is_a: HP:0001421 ! Abnormality of the musculature of the hand

[Term]
id: HP:0001230
name: Broad metacarpals
alt_id: HP:0006024
alt_id: HP:0006065
def: "Abnormally broad metacarpal bones." [HPO:probinson]
subset: hposlim_core
synonym: "Wide long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide metacarpals" EXACT []
xref: UMLS:C1842229
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0001231
name: Abnormal fingernail morphology
def: "An abnormality of the fingernails." [HPO:probinson]
synonym: "Abnormal fingernails" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of the fingernails" EXACT layperson []
xref: UMLS:C4021782
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0001232
name: Nail bed telangiectasia
def: "Telangiectases in the area of the nails." [HPO:probinson]
synonym: "Nail bed telangiectases" EXACT []
xref: UMLS:C1838167
is_a: HP:0001009 ! Telangiectasia
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0001233
name: 2-3 finger syndactyly
alt_id: HP:0006039
alt_id: HP:0006122
def: "Syndactyly with fusion of fingers two and three." [HPO:sdoelken]
synonym: "Syndactyly 2nd-3rd fingers" EXACT []
synonym: "Syndactyly, 2-3 finger" EXACT []
synonym: "Webbed 2nd-3rd fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:205139009
xref: UMLS:C0432055
is_a: HP:0006101 ! Finger syndactyly

[Term]
id: HP:0001234
name: Hitchhiker thumb
def: "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand." [HPO:probinson, pmid:19125433]
comment: The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending.
subset: hposlim_core
synonym: "Abducted thumb" EXACT []
synonym: "Hitchhiker thumb" EXACT layperson []
xref: UMLS:C1857269
is_a: HP:0009466 ! Radial deviation of finger
is_a: HP:0009603 ! Deviation of the thumb
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb

[Term]
id: HP:0001238
name: Slender finger
def: "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [pmid:19125433]
subset: hposlim_core
synonym: "Narrow fingers" EXACT layperson []
synonym: "Slender finger" EXACT layperson []
synonym: "Slender fingers" EXACT layperson [HPO:skoehler]
synonym: "thin fingers" EXACT layperson []
xref: UMLS:C1857482
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0001239
name: Wrist flexion contracture
alt_id: HP:0006049
alt_id: HP:0006137
def: "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist." [HPO:probinson]
synonym: "Wrist contracture" EXACT []
synonym: "Wrist flexion deformity" EXACT []
xref: SNOMEDCT_US:202275008
xref: UMLS:C0409345
is_a: HP:0003019 ! Abnormality of the wrist
is_a: HP:0100360 ! Contractures of the joints of the upper limbs

[Term]
id: HP:0001241
name: Capitate-hamate fusion
synonym: "Capitate-hamate fusions" EXACT []
synonym: "Fused capitate and hamate" EXACT []
synonym: "Fusion of capitate and hamate" EXACT []
synonym: "Fusion of hamate and capitate" EXACT []
xref: UMLS:C1857002
is_a: HP:0004259 ! Abnormality of the hamate bone
is_a: HP:0004262 ! Abnormality of the capitate bone
is_a: HP:0009702 ! Carpal synostosis

[Term]
id: HP:0001245
name: Small thenar eminence
alt_id: HP:0006188
def: "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb." [HPO:probinson, pmid:19125433]
comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally.
subset: hposlim_core
synonym: "Decreased thenar eminence" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Hypoplastic thenar eminences" EXACT []
synonym: "Thenar hypoplasia" EXACT []
synonym: "Thenar muscle hypoplasia" EXACT []
xref: UMLS:C1846474
is_a: HP:0001227 ! Abnormality of the thenar eminence

[Term]
id: HP:0001248
name: Short tubular bones of the hand
def: "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals." [HPO:probinson]
synonym: "Shortened short tubular bones of the hand" EXACT []
xref: UMLS:C4025795
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0003026 ! Short long bone

[Term]
id: HP:0001249
name: Intellectual disability
alt_id: HP:0000730
alt_id: HP:0001267
alt_id: HP:0001286
alt_id: HP:0002122
alt_id: HP:0002192
alt_id: HP:0002316
alt_id: HP:0002382
alt_id: HP:0002386
alt_id: HP:0002402
alt_id: HP:0002458
alt_id: HP:0002482
alt_id: HP:0002499
alt_id: HP:0002543
alt_id: HP:0003767
alt_id: HP:0006833
alt_id: HP:0006877
alt_id: HP:0007154
alt_id: HP:0007176
alt_id: HP:0007180
def: "Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson]
comment: This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263).
synonym: "Dull intelligence" RELATED []
synonym: "Intellectual disability" EXACT layperson []
synonym: "Low intelligence" RELATED layperson []
synonym: "Mental deficiency" EXACT layperson []
synonym: "Mental retardation" EXACT layperson []
synonym: "Mental retardation, nonspecific" EXACT layperson []
synonym: "Mental-retardation" EXACT layperson []
synonym: "Nonprogressive intellectual disability" EXACT []
synonym: "Nonprogressive mental retardation" EXACT []
synonym: "Poor school performance" RELATED layperson []
xref: MSH:D008607
xref: SNOMEDCT_US:228156007
xref: SNOMEDCT_US:247578003
xref: SNOMEDCT_US:91138005
xref: UMLS:C0025362
xref: UMLS:C0423903
xref: UMLS:C0917816
xref: UMLS:C1843367
xref: UMLS:C3714756
xref: UMLS:C4020876
is_a: HP:0012759 ! Neurodevelopmental abnormality

[Term]
id: HP:0001250
name: Seizures
alt_id: HP:0001275
alt_id: HP:0001303
alt_id: HP:0002125
alt_id: HP:0002182
alt_id: HP:0002279
alt_id: HP:0002306
alt_id: HP:0002348
alt_id: HP:0002391
alt_id: HP:0002417
alt_id: HP:0002430
alt_id: HP:0002431
alt_id: HP:0002432
alt_id: HP:0002434
alt_id: HP:0002437
alt_id: HP:0002466
alt_id: HP:0002479
alt_id: HP:0002794
alt_id: HP:0006997
alt_id: HP:0010520
def: "Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures." [HPO:probinson]
comment: The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.
synonym: "Epilepsy" RELATED layperson []
synonym: "Seizure" EXACT layperson []
synonym: "Seizures" EXACT layperson []
xref: MSH:D004827
xref: MSH:D012640
xref: SNOMEDCT_US:128613002
xref: SNOMEDCT_US:246545002
xref: SNOMEDCT_US:313307000
xref: SNOMEDCT_US:84757009
xref: SNOMEDCT_US:91175000
xref: UMLS:C0014544
xref: UMLS:C0036572
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0001251
name: Ataxia
alt_id: HP:0001253
alt_id: HP:0002513
alt_id: HP:0007050
alt_id: HP:0007157
def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [HPO:probinson]
comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia.
synonym: "Cerebellar ataxia" EXACT []
xref: MSH:D002524
xref: SNOMEDCT_US:85102008
xref: UMLS:C0007758
is_a: HP:0011443 ! Abnormality of coordination

[Term]
id: HP:0001252
name: Muscular hypotonia
alt_id: HP:0001318
def: "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
synonym: "Low or weak muscle tone" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Muscle hypotonia" EXACT []
xref: MSH:D009123
xref: SNOMEDCT_US:398151007
xref: SNOMEDCT_US:398152000
xref: UMLS:C0026827
is_a: HP:0003808 ! Abnormal muscle tone

[Term]
id: HP:0001254
name: Lethargy
def: "A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [HPO:probinson]
synonym: "Lethargy" EXACT layperson []
xref: MSH:D053609
xref: SNOMEDCT_US:214264003
xref: UMLS:C0023380
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0001256
name: Intellectual disability, mild
alt_id: HP:0006908
alt_id: HP:0007119
def: "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson]
synonym: "Intellectual disability, mild" EXACT layperson []
synonym: "Mental retardation, borderline-mild" EXACT layperson []
synonym: "Mental retardation, mild" RELATED layperson []
synonym: "Mild and nonprogressive mental retardation" EXACT layperson []
synonym: "Mild mental retardation" EXACT layperson []
xref: SNOMEDCT_US:86765009
xref: UMLS:C0026106
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0001257
name: Spasticity
def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson]
synonym: "Involuntary muscle stiffness, contraction, or spasm" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Muscle spasticity" EXACT []
synonym: "Muscular spasticity" EXACT []
xref: MSH:D009128
xref: SNOMEDCT_US:221360009
xref: SNOMEDCT_US:397790002
xref: UMLS:C0026838
is_a: HP:0001276 ! Hypertonia

[Term]
id: HP:0001258
name: Spastic paraplegia
alt_id: HP:0007062
alt_id: HP:0007124
alt_id: HP:0007216
def: "Spasticity and weakness of the leg and hip muscles." [HPO:probinson]
comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies.
synonym: "Spastic paraplegia, lower limb" EXACT []
xref: MSH:D010264
xref: SNOMEDCT_US:192967009
xref: UMLS:C0037772
is_a: HP:0002061 ! Lower limb spasticity
is_a: HP:0010550 ! Paraplegia

[Term]
id: HP:0001259
name: Coma
def: "Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli." [HPO:probinson]
comment: Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem.
synonym: "Coma" EXACT layperson []
xref: ICD-10:R40.2 "Coma, unspecified"
xref: MSH:D003128
xref: SNOMEDCT_US:371632003
xref: UMLS:C0009421
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0001260
name: Dysarthria
alt_id: HP:0002327
def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
synonym: "Difficulty articulating speech" EXACT layperson []
synonym: "Dysarthric speech" EXACT []
xref: MSH:D004401
xref: SNOMEDCT_US:8011004
xref: UMLS:C0013362
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0001262
name: Excessive daytime somnolence
def: "A state of abnormally strong desire for sleep during the daytime." []
synonym: "More than typical sleepiness during day" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:271782001
xref: SNOMEDCT_US:79519003
xref: UMLS:C2830004
is_a: HP:0002360 ! Sleep disturbance
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0001263
name: Global developmental delay
alt_id: HP:0000754
alt_id: HP:0001255
alt_id: HP:0001277
alt_id: HP:0001292
alt_id: HP:0002433
alt_id: HP:0002473
alt_id: HP:0002532
alt_id: HP:0006793
alt_id: HP:0006867
alt_id: HP:0006885
alt_id: HP:0006935
alt_id: HP:0007005
alt_id: HP:0007094
alt_id: HP:0007106
alt_id: HP:0007174
alt_id: HP:0007224
alt_id: HP:0007228
alt_id: HP:0007342
def: "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken]
comment: Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication.
synonym: "Cognitive delay" RELATED []
synonym: "Delayed cognitive development" EXACT []
synonym: "Delayed development" EXACT []
synonym: "Delayed developmental milestones" EXACT []
synonym: "Delayed intellectual development" EXACT []
synonym: "Delayed milestones" EXACT []
synonym: "Delayed psychomotor development" EXACT []
synonym: "Developmental delay" EXACT []
synonym: "Developmental delay in early childhood" EXACT []
synonym: "Developmental delay, global" EXACT []
synonym: "Developmental retardation" EXACT []
synonym: "Lack of psychomotor development" EXACT []
synonym: "Mental and motor retardation" RELATED []
synonym: "Motor and developmental delay" EXACT []
synonym: "Psychomotor delay" EXACT []
synonym: "Psychomotor development deficiency" EXACT []
synonym: "Psychomotor development failure" EXACT []
synonym: "Psychomotor developmental delay" EXACT []
synonym: "Retarded development" EXACT []
synonym: "Retarded mental development" EXACT []
synonym: "Retarded psychomotor development" EXACT []
xref: SNOMEDCT_US:224958001
xref: UMLS:C0557874
xref: UMLS:C1864897
xref: UMLS:C4020875
is_a: HP:0012758 ! Neurodevelopmental delay

[Term]
id: HP:0001264
name: Spastic diplegia
def: "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators]
xref: MSH:D002547
xref: SNOMEDCT_US:281411007
xref: UMLS:C0023882
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0001265
name: Hyporeflexia
alt_id: HP:0002467
def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson]
synonym: "Decreased reflex response" EXACT layperson []
synonym: "Decreased reflexes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:405946002
xref: UMLS:C0700078
is_a: HP:0001315 ! Reduced tendon reflexes

[Term]
id: HP:0001266
name: Choreoathetosis
alt_id: HP:0002469
alt_id: HP:0006811
alt_id: HP:0007028
alt_id: HP:0007337
def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [HPO:probinson]
synonym: "Choreoathetoid movements" EXACT []
xref: SNOMEDCT_US:43105007
xref: UMLS:C0085583
xref: UMLS:C0234967
is_a: HP:0002072 ! Chorea

[Term]
id: HP:0001268
name: Mental deterioration
alt_id: HP:0002303
alt_id: HP:0006822
alt_id: HP:0007155
alt_id: HP:0007253
alt_id: HP:0007264
alt_id: HP:0007298
def: "Loss of previously present mental abilities, generally in adults." [HPO:probinson]
synonym: "Cognitive decline" EXACT layperson []
synonym: "Cognitive decline, progressive" EXACT layperson []
synonym: "Intellectual deterioration" EXACT layperson []
synonym: "Mental deterioration" EXACT layperson []
synonym: "Progressive cognitive decline" EXACT layperson []
xref: MSH:D060825
xref: UMLS:C0234985
is_a: HP:0100543 ! Cognitive impairment

[Term]
id: HP:0001269
name: Hemiparesis
def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." [HPO:probinson, UKB:tklockgether]
synonym: "Weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D010291
xref: SNOMEDCT_US:127377003
xref: SNOMEDCT_US:20022000
xref: UMLS:C0018989
is_a: HP:0004374 ! Hemiplegia/hemiparesis

[Term]
id: HP:0001270
name: Motor delay
alt_id: HP:0001307
alt_id: HP:0002130
alt_id: HP:0006788
alt_id: HP:0006826
alt_id: HP:0006909
alt_id: HP:0006950
alt_id: HP:0006968
alt_id: HP:0007219
alt_id: HP:0007251
def: "A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson]
synonym: "Delay in motor development" EXACT []
synonym: "Delayed early motor milestones" EXACT []
synonym: "Delayed motor development" EXACT []
synonym: "Delayed motor milestones" EXACT []
synonym: "Locomotor delay" EXACT []
synonym: "Motor developmental delay" EXACT []
synonym: "Motor developmental milestones not achieved" EXACT []
synonym: "Motor retardation" EXACT []
synonym: "No development of motor milestones" RELATED []
synonym: "Retarded motor development" EXACT []
xref: UMLS:C1854301
xref: UMLS:C4020874
is_a: HP:0012758 ! Neurodevelopmental delay

[Term]
id: HP:0001271
name: Polyneuropathy
alt_id: HP:0006941
alt_id: HP:0007287
def: "A generalized disorder of peripheral nerves." [HPO:curators]
synonym: "Peripheral nerve disease" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010523
xref: MSH:D011115
xref: SNOMEDCT_US:302226006
xref: SNOMEDCT_US:42345000
xref: SNOMEDCT_US:42658009
xref: UMLS:C0031117
xref: UMLS:C0152025
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0001272
name: Cerebellar atrophy
alt_id: HP:0002364
alt_id: HP:0006839
alt_id: HP:0007072
alt_id: HP:0007203
def: "Atrophy (wasting) of the cerebellum." [HPO:probinson, pmid:12169461]
comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.
synonym: "Degeneration of cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Infratentorial atrophy" RELATED []
xref: SNOMEDCT_US:95646004
xref: UMLS:C0262404
xref: UMLS:C0740279
xref: UMLS:C4020873
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0001273
name: Abnormal corpus callosum morphology
alt_id: HP:0007323
def: "Abnormality of the corpus callosum." [HPO:probinson, pmid:21263138]
comment: The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium.
synonym: "Abnormal corpus callosum" EXACT []
synonym: "Abnormality of the corpus callosum" EXACT []
synonym: "Corpus callosum abnormality" EXACT []
xref: UMLS:C1842581
is_a: HP:0002500 ! Abnormality of the cerebral white matter

[Term]
id: HP:0001274
name: Agenesis of corpus callosum
alt_id: HP:0006800
def: "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
synonym: "Absence of corpus callosum" EXACT []
synonym: "Absent corpus callosum" EXACT []
synonym: "Agenesis of the corpus callosum" EXACT []
synonym: "Callosal agenesis" EXACT []
synonym: "Corpus callosum agenesis" EXACT []
synonym: "Dysplastic or absent corpus callosum" EXACT []
xref: Fyler:4321
xref: MSH:D061085
xref: SNOMEDCT_US:5102002
xref: UMLS:C0175754
is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum

[Term]
id: HP:0001276
name: Hypertonia
alt_id: HP:0002388
def: "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [HPO:probinson]
comment: Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.
synonym: "Hypertonicity" EXACT []
synonym: "Increased muscle tone" EXACT []
synonym: "Muscle hypertonia" RELATED []
synonym: "Spasticity and rigidity of muscles" NARROW layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D009122
xref: SNOMEDCT_US:41581000
xref: SNOMEDCT_US:56731001
xref: UMLS:C0026826
is_a: HP:0002493 ! Upper motor neuron dysfunction
is_a: HP:0003808 ! Abnormal muscle tone

[Term]
id: HP:0001278
name: Orthostatic hypotension
alt_id: HP:0004932
alt_id: HP:0006700
def: "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:probinson]
synonym: "Decrease in blood pressure upon standing up" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Postural hypotension" EXACT []
xref: MSH:D007024
xref: SNOMEDCT_US:28651003
xref: UMLS:C0020651
is_a: HP:0002615 ! Hypotension
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology

[Term]
id: HP:0001279
name: Syncope
def: "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." [HPO:probinson]
synonym: "Fainting spell" EXACT layperson []
xref: MSH:D013575
xref: SNOMEDCT_US:271594007
xref: SNOMEDCT_US:272030005
xref: SNOMEDCT_US:309585006
xref: UMLS:C0039070
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
created_by: peter
creation_date: 2008-02-25T10:37:00Z

[Term]
id: HP:0001281
name: Tetany
def: "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magneisum deficiency." []
synonym: "Intermittent involuntary muscle spasm" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D013746
xref: SNOMEDCT_US:10629009
xref: UMLS:C0039621
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0001283
name: Bulbar palsy
alt_id: HP:0003441
alt_id: HP:0003709
def: "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators]
synonym: "Bulbar muscle weakness" EXACT []
synonym: "Bulbar palsies" EXACT []
synonym: "Bulbar weakness" EXACT []
xref: MSH:D010244
xref: SNOMEDCT_US:398432008
xref: UMLS:C1301959
xref: UMLS:C4082299
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0001284
name: Areflexia
alt_id: HP:0001314
def: "Absence of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson]
comment: The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex).
synonym: "Absent deep tendon reflexes" EXACT []
synonym: "Absent reflexes" BROAD layperson []
synonym: "Absent tendon reflexes" EXACT layperson []
synonym: "Deep tendon reflexes absent" EXACT []
synonym: "Loss of deep tendon reflexes" EXACT []
xref: MSH:D012021
xref: SNOMEDCT_US:349006
xref: SNOMEDCT_US:37280007
xref: UMLS:C0234146
xref: UMLS:C0241772
xref: UMLS:C0278124
is_a: HP:0001315 ! Reduced tendon reflexes

[Term]
id: HP:0001285
name: Spastic tetraparesis
alt_id: HP:0002393
def: "Spastic weakness affecting all four limbs." [HPO:curators]
synonym: "Spastic quadriparesis" EXACT []
xref: SNOMEDCT_US:298282001
xref: UMLS:C0575059
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0001287
name: Meningitis
def: "Inflammation of the meninges." [HPO:probinson]
xref: MSH:D008581
xref: SNOMEDCT_US:7180009
xref: UMLS:C0025289
is_a: HP:0011450 ! Unusual CNS infection

[Term]
id: HP:0001288
name: Gait disturbance
alt_id: HP:0006953
def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:probinson, PMID:27770207]
comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought.
synonym: "Abnormal gait" EXACT layperson []
synonym: "Abnormal walk" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Gait abnormalities" EXACT []
synonym: "Gait difficulties" EXACT []
synonym: "Gait disturbances" EXACT []
synonym: "Impaired gait" EXACT layperson []
xref: SNOMEDCT_US:22325002
xref: UMLS:C0575081
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0001289
name: Confusion
alt_id: HP:0000731
def: "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
synonym: "Confusion" EXACT layperson []
synonym: "Disorientation" EXACT layperson []
synonym: "Easily confused" EXACT layperson []
synonym: "Mental disorientation" EXACT layperson []
xref: MSH:D003221
xref: SNOMEDCT_US:286933003
xref: UMLS:C0009676
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0001290
name: Generalized hypotonia
def: "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
synonym: "Decreased muscle tone" EXACT layperson []
synonym: "Generalized muscular hypotonia" EXACT []
synonym: "Hypotonia" BROAD [HPO:skoehler]
synonym: "Hypotonia, generalized" EXACT []
synonym: "Low muscle tone" EXACT layperson []
xref: UMLS:C1858120
is_a: HP:0001252 ! Muscular hypotonia

[Term]
id: HP:0001291
name: Abnormal cranial nerve morphology
alt_id: HP:0003480
def: "Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:probinson]
synonym: "Abnormality of cranial nerve" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the cranial nerves" EXACT []
synonym: "Cranial nerve abnormality" RELATED []
synonym: "Cranial nerve disease" EXACT []
synonym: "Cranial nerve involvement" EXACT []
xref: UMLS:C1854510
xref: UMLS:C4020872
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0001293
name: Cranial nerve compression
xref: SNOMEDCT_US:95664006
xref: UMLS:C0521670
is_a: HP:0001291 ! Abnormal cranial nerve morphology

[Term]
id: HP:0001297
name: Stroke
alt_id: HP:0002452
def: "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain." [HPO:probinson]
synonym: "Cerebral vascular events" EXACT []
synonym: "Cerebrovascular accident" EXACT []
synonym: "Cerebrovascular accidents" RELATED [HPO:skoehler]
synonym: "Stroke" EXACT layperson []
xref: MSH:D020521
xref: SNOMEDCT_US:230690007
xref: UMLS:C0038454
is_a: HP:0100659 ! Abnormality of the cerebral vasculature

[Term]
id: HP:0001298
name: Encephalopathy
def: "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state." [HPO:probinson, KI:phemming]
comment: This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted.
xref: MSH:D001927
xref: SNOMEDCT_US:81308009
xref: UMLS:C0085584
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0001300
name: Parkinsonism
def: "Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." [HPO:probinson]
synonym: "Parkinsonian disease" RELATED []
xref: MSH:D020734
xref: SNOMEDCT_US:32798002
xref: UMLS:C0242422
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0001301
name: Chronic sensorineural polyneuropathy
xref: UMLS:C4025794
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0001302
name: Pachygyria
def: "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [COST:neuromig, HPO:probinson, PMID:22427329]
synonym: "Cerebral pachygyria" EXACT []
synonym: "Fewer and broader ridges in brain" EXACT layperson []
xref: MSH:D054082
xref: SNOMEDCT_US:23024003
xref: UMLS:C0266483
is_a: HP:0001339 ! Lissencephaly

[Term]
id: HP:0001304
name: Torsion dystonia
def: "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." [HPO:probinson]
synonym: "Dystonia musculorum deformans" EXACT []
xref: MSH:D004422
xref: SNOMEDCT_US:22451001
xref: SNOMEDCT_US:431034009
xref: UMLS:C0013423
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0001305
name: Dandy-Walker malformation
alt_id: HP:0001313
alt_id: HP:0006809
def: "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:probinson]
synonym: "Dandy-walker anomaly" EXACT []
synonym: "Dandy-Walker cyst" EXACT []
xref: MSH:D003616
xref: SNOMEDCT_US:14447001
xref: UMLS:C0010964
is_a: HP:0001320 ! Cerebellar vermis hypoplasia
is_a: HP:0002198 ! Dilated fourth ventricle
is_a: HP:0002350 ! Cerebellar cyst
is_a: HP:0005445 ! Widened posterior fossa

[Term]
id: HP:0001308
name: Tongue fasciculations
alt_id: HP:0003727
def: "Fasciculations or fibrillation affecting the tongue muscle." [HPO:probinson]
synonym: "Lingual fasciculations" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lingual fibrillations" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lingual twitching" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tongue fasciculation" EXACT []
synonym: "Tongue fasciculations/fibrillations" EXACT []
synonym: "Tongue twitching" EXACT layperson []
synonym: "Twitching of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D005207
xref: SNOMEDCT_US:249878001
xref: UMLS:C0239548
is_a: HP:0002380 ! Fasciculations
is_a: HP:0010546 ! Muscle fibrillation
is_a: HP:0030810 ! Abnormal tongue physiology

[Term]
id: HP:0001310
name: Dysmetria
def: "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." [HPO:probinson]
comment: Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner.
synonym: "Abnormal finger chase test" RELATED []
synonym: "Abnormal finger-nose-finger test" RELATED []
synonym: "Lack of coordination of movement" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D002524
xref: SNOMEDCT_US:32566006
xref: UMLS:C0234162
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0001311
name: Abnormal nervous system electrophysiology
alt_id: HP:0002531
alt_id: HP:0003129
def: "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations." [HPO:probinson]
synonym: "Neurophysiologic abnormalities" EXACT []
synonym: "Neurophysiologic abnormality" EXACT []
xref: UMLS:C4021781
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0001312
name: Giant somatosensory evoked potentials
def: "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [HPO:curators]
synonym: "Giant SEPS" EXACT []
xref: UMLS:C3806961
is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials

[Term]
id: HP:0001315
name: Reduced tendon reflexes
alt_id: HP:0001316
def: "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease." [HPO:probinson, pmid:20941667]
comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect.
synonym: "Absent or decreased deep tendon reflexes" EXACT []
synonym: "Decreased deep tendon reflexes" EXACT []
synonym: "Decreased tendon reflexes" EXACT []
synonym: "Decreased to absent deep tendon reflexes" EXACT []
synonym: "Decreased/absent deep tendon reflexes" EXACT []
synonym: "Depressed tendon reflexes" EXACT []
synonym: "Diminished deep tendon reflexes" EXACT []
synonym: "Diminished or absent deep tendon reflexes" EXACT []
synonym: "Diminished or absent tendon reflexes" EXACT []
synonym: "Hypoactive to absent deep tendon reflexes" EXACT []
synonym: "Impaired tendon reflexes" EXACT []
synonym: "Reduced/absent deep tendon reflexes" EXACT []
synonym: "Weak or absent deep tendon reflexes" EXACT []
xref: UMLS:C1866934
is_a: HP:0031826 ! Abnormal reflex

[Term]
id: HP:0001317
name: Abnormal cerebellum morphology
def: "Any structural abnormality of the cerebellum." [HPO:probinson]
synonym: "Abnormality of the cerebellum" EXACT layperson []
synonym: "Cerebellar abnormalities" EXACT layperson []
synonym: "Cerebellar abnormality" EXACT layperson []
synonym: "Cerebellar anomaly" EXACT layperson []
synonym: "Cerebellar signs" EXACT []
xref: UMLS:C0742038
xref: UMLS:C1866129
is_a: HP:0011283 ! Abnormality of the metencephalon

[Term]
id: HP:0001319
name: Neonatal hypotonia
alt_id: HP:0006830
alt_id: HP:0008976
def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators]
synonym: "Congenital hypotonia" RELATED []
synonym: "Hypotonia, in neonatal onset" EXACT []
synonym: "Hypotonia, neonatal" EXACT []
synonym: "Low muscle tone, in neonatal onset" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009123
xref: SNOMEDCT_US:205294008
xref: UMLS:C2267233
is_a: HP:0001252 ! Muscular hypotonia

[Term]
id: HP:0001320
name: Cerebellar vermis hypoplasia
def: "Underdevelopment of the vermis of cerebellum." [HPO:probinson]
synonym: "Cerebellar vermal hypoplasia" EXACT []
synonym: "Hypoplasia of the cerebellar vermis" EXACT []
synonym: "Hypoplastic cerebellar vermis" EXACT []
xref: UMLS:C1840379
is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis

[Term]
id: HP:0001321
name: Cerebellar hypoplasia
alt_id: HP:0006806
alt_id: HP:0006910
alt_id: HP:0007038
alt_id: HP:0007053
def: "Underdevelopment of the cerebellum." [HPO:probinson]
comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy).
synonym: "Congenital cerebellar hypoplasia" EXACT []
synonym: "Hypoplasia of cerebellum" EXACT []
synonym: "Hypoplastic cerebellum" EXACT []
synonym: "Small cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C562568
xref: SNOMEDCT_US:16026008
xref: UMLS:C0266470
is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum

[Term]
id: HP:0001322
name: obsolete Brain very small
is_obsolete: true
replaced_by: HP:0006872

[Term]
id: HP:0001324
name: Muscle weakness
alt_id: HP:0002309
alt_id: HP:0008979
alt_id: HP:0009012
alt_id: HP:0009061
def: "Reduced strength of muscles." [HPO:probinson, pmid:15832536]
comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced.
synonym: "Muscle weakness" EXACT layperson []
synonym: "Muscular weakness" EXACT layperson []
xref: MSH:D018908
xref: SNOMEDCT_US:26544005
xref: UMLS:C0151786
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0001325
name: Hypoglycemic coma
synonym: "Coma caused by low blood sugar" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Coma, hypoglycemic" EXACT []
synonym: "Hypoglycaemic coma" EXACT []
synonym: "Loss of consciousness due to hypoglycemia" EXACT []
xref: SNOMEDCT_US:267384006
xref: UMLS:C0020617
is_a: HP:0001259 ! Coma

[Term]
id: HP:0001326
name: EEG with irregular generalized spike and wave complexes
def: "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency." [HPO:jalbers]
xref: UMLS:C4025792
is_a: HP:0010850 ! EEG with spike-wave complexes

[Term]
id: HP:0001327
name: Photomyoclonic seizures
xref: UMLS:C4025791
is_a: HP:0002123 ! Generalized myoclonic seizures

[Term]
id: HP:0001328
name: Specific learning disability
alt_id: HP:0007234
def: "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [HPO:probinson]
comment: The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation.
xref: UMLS:C4025790
is_a: HP:0012759 ! Neurodevelopmental abnormality

[Term]
id: HP:0001331
name: Absent septum pellucidum
alt_id: HP:0006969
def: "Absence of the septum pellucidum." [HPO:probinson]
comment: TODO: Bundled term. Revise annotations and split this term.
synonym: "Absence of septum pellucidum" EXACT []
synonym: "Absence of the septum pellucidum" EXACT []
synonym: "Agenesis of the septum pellucidum" EXACT []
synonym: "Missing septum pellucidum" EXACT [https://orcid.org/0000-0002-6548-5200]
xref: MSH:C535562
xref: SNOMEDCT_US:253143001
xref: UMLS:C0431371
is_a: HP:0007375 ! Abnormality of the septum pellucidum

[Term]
id: HP:0001332
name: Dystonia
alt_id: HP:0002328
def: "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:probinson]
synonym: "Dystonic disease" RELATED []
synonym: "Dystonic movements" EXACT []
xref: MSH:D004421
xref: UMLS:C0013421
xref: UMLS:C4020871
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0001334
name: Communicating hydrocephalus
def: "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." [eMedicine:1135286, HPO:probinson]
comment: Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency.
xref: MSH:D006849
xref: SNOMEDCT_US:271569006
xref: UMLS:C0009451
is_a: HP:0000238 ! Hydrocephalus

[Term]
id: HP:0001335
name: Bimanual synkinesia
def: "Mirror hand movements." [HPO:probinson]
synonym: "Hand mirror movements" EXACT layperson []
synonym: "Mirror hand movements" EXACT layperson []
synonym: "Mirror movements" EXACT layperson []
xref: SNOMEDCT_US:229247004
xref: UMLS:C0454455
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0001336
name: Myoclonus
alt_id: HP:0002535
alt_id: HP:0007087
def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:probinson, PMID:20589866]
comment: Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxtion (negative myoclonus).
synonym: "Involuntary jerking movements" RELATED []
synonym: "Jerking" BROAD layperson []
synonym: "Myoclonic jerks" EXACT []
xref: MSH:D009207
xref: SNOMEDCT_US:127324008
xref: SNOMEDCT_US:17450006
xref: UMLS:C0027066
xref: UMLS:C1854302
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0001337
name: Tremor
alt_id: HP:0001295
alt_id: HP:0001309
def: "An unintentional, oscillating to-and-fro muscle movement about a joint axis." [HPO:probinson, pmid:16344298, PMID:20589866]
comment: Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching.
synonym: "Tremor" EXACT layperson []
synonym: "Tremors" EXACT layperson []
xref: MSH:D014202
xref: SNOMEDCT_US:26079004
xref: UMLS:C0040822
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0001338
name: Partial agenesis of the corpus callosum
alt_id: HP:0006982
alt_id: HP:0007090
alt_id: HP:0007128
def: "A partial failure of the development of the corpus callosum." [HPO:curators]
synonym: "Corpus callosum agenesis, partial" EXACT []
synonym: "Partial agenesis of corpus callosum" EXACT []
synonym: "Partial corpus callosum agenesis" EXACT []
synonym: "Partial or complete agenesis of corpus callosum" EXACT []
synonym: "Partial or complete agenesis of the corpus callosum" RELATED [HPO:skoehler]
synonym: "Partial to complete agenesis of corpus callosum" EXACT []
synonym: "Partial-total agenesis of corpus callosum" EXACT []
xref: MSH:C536111
xref: SNOMEDCT_US:253140003
xref: UMLS:C0431368
xref: UMLS:C1857278
is_a: HP:0001274 ! Agenesis of corpus callosum

[Term]
id: HP:0001339
name: Lissencephaly
alt_id: HP:0002537
def: "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [COST:neuromig, HPO:probinson, PMID:28440899]
comment: Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci.
synonym: "Fewer or absent grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D054082
xref: SNOMEDCT_US:204036008
xref: UMLS:C0266463
xref: UMLS:C1879312
is_a: HP:0002536 ! Abnormal cortical gyration

[Term]
id: HP:0001340
name: Enhancement of the C-reflex
def: "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response." [HPO:probinson, pmid:4819909]
xref: UMLS:C3552824
is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials

[Term]
id: HP:0001341
name: Olfactory lobe agenesis
synonym: "Olfactory lobe absence" EXACT layperson []
xref: UMLS:C1855331
is_a: HP:0025057 ! Abnormality of olfactory lobe morphology

[Term]
id: HP:0001342
name: Cerebral hemorrhage
alt_id: HP:0002137
def: "Hemorrhage into the parenchyma of the brain." [HPO:gcarletti]
comment: A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself.
synonym: "Bleeding in brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Hemorrhagic stroke" RELATED [ORCID:0000-0001-6908-9849]
synonym: "Intracerebral hemorrhage" EXACT []
xref: MSH:D002543
xref: MSH:D020300
xref: SNOMEDCT_US:230706003
xref: SNOMEDCT_US:274100004
xref: UMLS:C0553692
xref: UMLS:C2937358
is_a: HP:0002170 ! Intracranial hemorrhage

[Term]
id: HP:0001343
name: Kernicterus
def: "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [HPO:probinson]
xref: MSH:D007647
xref: SNOMEDCT_US:50143004
xref: SNOMEDCT_US:74925009
xref: UMLS:C0022610
is_a: HP:0012443 ! Abnormality of brain morphology

[Term]
id: HP:0001344
name: Absent speech
alt_id: HP:0001617
alt_id: HP:0006798
def: "Complete lack of development of speech and language abilities." [HPO:probinson]
comment: This term should not be used in very young children.
synonym: "Absent speech development" EXACT layperson []
synonym: "Lack of language development" EXACT layperson []
synonym: "Lack of speech" EXACT layperson []
synonym: "No speech development" EXACT layperson []
synonym: "No speech or language development" EXACT layperson []
synonym: "Nonverbal" EXACT layperson [ORCID:0000-0001-9114-8737]
xref: UMLS:C0746940
xref: UMLS:C1854882
is_a: HP:0000750 ! Delayed speech and language development
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0001345
name: Psychotic mentation
xref: UMLS:C4025789
is_a: HP:0000709 ! Psychosis

[Term]
id: HP:0001347
name: Hyperreflexia
alt_id: HP:0001282
alt_id: HP:0006820
alt_id: HP:0007184
alt_id: HP:0007318
def: "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [HPO:probinson]
comment: Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less.
synonym: "Increased deep tendon reflexes" EXACT []
synonym: "Increased reflexes" EXACT layperson []
xref: MSH:D012021
xref: SNOMEDCT_US:86854008
xref: UMLS:C0151889
is_a: HP:0031826 ! Abnormal reflex

[Term]
id: HP:0001348
name: Brisk reflexes
def: "Tendon reflexes that are noticably more active than usual (conventionally denoted 3+ on clinical examnation). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal." []
xref: UMLS:C2673700
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0001349
name: Facial diplegia
alt_id: HP:0005334
alt_id: HP:0007085
def: "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:probinson]
subset: hposlim_core
synonym: "Bilateral facial weakness" EXACT []
synonym: "Facial paresis, bilateral" EXACT []
xref: UMLS:C1836003
is_a: HP:0010628 ! Facial palsy

[Term]
id: HP:0001350
name: Slurred speech
def: "Abnormal coordination of muscles involved in speech." [DDD:fmunitoni]
synonym: "Slurred speech" EXACT layperson []
xref: SNOMEDCT_US:289195008
xref: UMLS:C0234518
is_a: HP:0011443 ! Abnormality of coordination

[Term]
id: HP:0001351
name: Jerk-locked premyoclonus spikes
def: "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG." [HPO:probinson, pmid:1464676]
xref: UMLS:C3552825
is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology

[Term]
id: HP:0001355
name: Megalencephaly
def: "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." [COST:neuromig, HPO:probinson, PMID:28658095]
synonym: "Enlarged brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Macrencephaly" EXACT []
xref: MSH:D058627
xref: SNOMEDCT_US:19410003
xref: UMLS:C0221355
is_a: HP:0002060 ! Abnormality of the cerebrum

[Term]
id: HP:0001357
name: Plagiocephaly
alt_id: HP:0001121
def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [pmid:19125436]
comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone.
subset: hposlim_core
synonym: "Asymmetry of the posterior cranium" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of the posterior head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of the posterior skull" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformational plagiocephaly" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Flat head" BROAD [HPO:skoehler]
synonym: "Flat head syndrome" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flattening of cranial vault" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flattening of cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flattening of head" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Flattening of skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Positional plagiocephaly" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Rhomboid shaped cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Rhomboid shaped head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Rhomboid shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D049068
xref: MSH:D059041
xref: SNOMEDCT_US:21850008
xref: SNOMEDCT_US:254024005
xref: UMLS:C0265529
xref: UMLS:C1450010
xref: UMLS:C4072830
xref: UMLS:C4280597
xref: UMLS:C4280598
xref: UMLS:C4280807
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0001360
name: Holoprosencephaly
alt_id: HP:0009807
def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [HPO:probinson]
comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly.
synonym: "Single brain ventricle" EXACT []
xref: Fyler:4338
xref: MSH:D016142
xref: SNOMEDCT_US:30915001
xref: UMLS:C0079541
is_a: HP:0012443 ! Abnormality of brain morphology

[Term]
id: HP:0001361
name: Nystagmus-induced head nodding
def: "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision." [HPO:probinson]
xref: UMLS:C4025788
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0001362
name: Calvarial skull defect
def: "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:probinson]
synonym: "Calvarial defect" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Cranial defect" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Skull defect" EXACT layperson []
xref: UMLS:C4025787
xref: UMLS:C4280595
xref: UMLS:C4280596
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0001363
name: Craniosynostosis
alt_id: HP:0001365
alt_id: HP:0004494
alt_id: HP:0005448
alt_id: HP:0005457
alt_id: HP:0005467
alt_id: HP:0008492
def: "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:probinson]
comment: Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth.
subset: hposlim_core
synonym: "Cranial suture synostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Craniostenosis" RELATED []
synonym: "Craniosyostosis" EXACT []
synonym: "Deformity of the skull" BROAD layperson [https://en.wikipedia.org/wiki/Craniosynostosis, ORCID:0000-0002-9353-5498]
synonym: "Early fusion of cranial sutures" EXACT []
synonym: "Premature closure of cranial sutures" EXACT []
synonym: "Premature fontanel closure" EXACT []
synonym: "Premature suture closure" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:4336
xref: MSH:D003398
xref: SNOMEDCT_US:57219006
xref: UMLS:C0010278
xref: UMLS:C0235942
is_a: HP:0002648 ! Abnormality of calvarial morphology
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0001367
name: Abnormal joint morphology
def: "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." [HPO:probinson]
synonym: "Abnormal shape of joints" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the joints" EXACT layperson []
synonym: "Anomaly of the joints" EXACT layperson []
synonym: "Joint disease" RELATED layperson []
xref: MSH:D007592
xref: SNOMEDCT_US:399269003
xref: UMLS:C0022408
xref: UMLS:C0240083
is_a: HP:0011842 ! Abnormality of skeletal morphology

[Term]
id: HP:0001369
name: Arthritis
def: "Inflammation of a joint." [HPO:probinson]
synonym: "Arthritis" EXACT layperson []
synonym: "Joint inflammation" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D001168
xref: SNOMEDCT_US:3723001
xref: UMLS:C0003864
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0001370
name: Rheumatoid arthritis
def: "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures." [HPO:probinson]
synonym: "RA" EXACT HP:0045077 []
synonym: "Rheumatoid arthritis" EXACT layperson []
xref: MSH:D001172
xref: SNOMEDCT_US:69896004
xref: UMLS:C0003873
is_a: HP:0001369 ! Arthritis

[Term]
id: HP:0001371
name: Flexion contracture
alt_id: HP:0001372
alt_id: HP:0001381
alt_id: HP:0005053
alt_id: HP:0005189
alt_id: HP:0005660
def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson]
synonym: "Contracture" EXACT []
synonym: "Contractures" RELATED [HPO:skoehler]
synonym: "Flexed joint that cannot be straightened" EXACT layperson []
synonym: "Flexion contractures" EXACT []
synonym: "Flexion contractures of joints" EXACT []
synonym: "Joint contracture" EXACT []
synonym: "Joint contractures" EXACT []
xref: MSH:D003286
xref: SNOMEDCT_US:203598005
xref: SNOMEDCT_US:385522000
xref: SNOMEDCT_US:55033002
xref: SNOMEDCT_US:57048009
xref: SNOMEDCT_US:7890003
xref: SNOMEDCT_US:88565003
xref: UMLS:C0009917
xref: UMLS:C0009918
xref: UMLS:C0333068
xref: UMLS:C1850530
is_a: HP:0003549 ! Abnormality of connective tissue
is_a: HP:0011729 ! Abnormality of joint mobility
is_a: HP:0011805 ! Abnormal muscle morphology
is_a: HP:0100261 ! Abnormal tendon morphology

[Term]
id: HP:0001373
name: Joint dislocation
alt_id: HP:0002772
alt_id: HP:0005837
def: "Displacement or malalignment of joints." [HPO:curators]
comment: Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation.
synonym: "Joint dislocation" EXACT layperson []
synonym: "Joint dislocations" EXACT layperson [HPO:skoehler]
synonym: "Recurrent joint dislocations" EXACT layperson []
xref: MSH:D004204
xref: SNOMEDCT_US:108367008
xref: SNOMEDCT_US:87642003
xref: UMLS:C0012691
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0001374
name: Congenital hip dislocation
synonym: "Congenital dislocation of the hip" EXACT []
synonym: "Congenital dislocation of the hips" EXACT []
synonym: "Congenital hip anomaly" EXACT []
synonym: "Congenital hip dislocations" EXACT []
synonym: "Dislocated hip since birth" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006618
xref: SNOMEDCT_US:48334007
xref: SNOMEDCT_US:52781008
xref: UMLS:C0019555
is_a: HP:0002827 ! Hip dislocation

[Term]
id: HP:0001376
name: Limitation of joint mobility
alt_id: HP:0003101
def: "A reduction in the freedom of movement of one or more joints." [HPO:probinson]
synonym: "Decreased joint mobility" EXACT layperson []
synonym: "Decreased mobility of joints" EXACT layperson []
synonym: "Limitation of joint mobility" EXACT layperson []
synonym: "Limited joint mobility" EXACT layperson []
synonym: "Limited joint motion" EXACT layperson []
xref: UMLS:C1857108
is_a: HP:0011729 ! Abnormality of joint mobility

[Term]
id: HP:0001377
name: Limited elbow extension
alt_id: HP:0005073
def: "Limited ability to straighten the arm at the elbow joint." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased elbow extension" EXACT layperson []
synonym: "Elbow limited extension" EXACT layperson []
synonym: "Limitation of elbow extension" EXACT layperson []
synonym: "Limited elbow extension" EXACT layperson []
synonym: "Limited extension at elbows" EXACT layperson []
synonym: "Limited forearm extension" EXACT layperson []
synonym: "Restricted elbow extension" EXACT layperson []
xref: UMLS:C1867103
is_a: HP:0002996 ! Limited elbow movement

[Term]
id: HP:0001379
name: obsolete Degenerative joint disease
is_obsolete: true
replaced_by: HP:0002758

[Term]
id: HP:0001380
name: obsolete Ligamentous laxity
is_obsolete: true
replaced_by: HP:0001388

[Term]
id: HP:0001382
name: Joint hypermobility
alt_id: HP:0001378
alt_id: HP:0005034
def: "The ability of a joint to move beyond its normal range of motion." [HPO:probinson]
synonym: "Double-Jointed" EXACT layperson []
synonym: "Extensible joints" EXACT []
synonym: "Flexible joints" EXACT layperson []
synonym: "Hyperextensible joints" EXACT []
synonym: "Increased mobility of joints" EXACT layperson []
synonym: "Joint hyperextensibility" EXACT []
xref: SNOMEDCT_US:298181000
xref: UMLS:C1844820
is_a: HP:0011729 ! Abnormality of joint mobility

[Term]
id: HP:0001384
name: Abnormality of the hip joint
def: "An abnormality of the hip joint." [HPO:probinson]
synonym: "Abnormality of the hip joint" EXACT layperson []
synonym: "Abnormality of the hip joints" RELATED layperson []
xref: UMLS:C4020870
is_a: HP:0003272 ! Abnormality of the hip bone
is_a: HP:0005262 ! Abnormality of the synovia
is_a: HP:0100491 ! Abnormality of lower limb joint

[Term]
id: HP:0001385
name: Hip dysplasia
alt_id: HP:0008787
def: "The presence of developmental dysplasia of the hip." [HPO:probinson]
synonym: "Abnormal formation of the hip" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Congenital hip dysplasia" EXACT []
xref: MSH:D006618
xref: SNOMEDCT_US:48334007
xref: SNOMEDCT_US:52781008
xref: UMLS:C0019555
is_a: HP:0003272 ! Abnormality of the hip bone

[Term]
id: HP:0001386
name: Joint swelling
synonym: "Joint swelling" EXACT layperson []
xref: SNOMEDCT_US:271771009
xref: UMLS:C0152031
is_a: HP:0000969 ! Edema
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0001387
name: Joint stiffness
alt_id: HP:0002775
alt_id: HP:0003033
def: "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:probinson]
synonym: "Joint stiffness" EXACT layperson []
synonym: "Stiff joint" EXACT layperson []
synonym: "Stiff joints" EXACT layperson []
xref: SNOMEDCT_US:84445001
xref: UMLS:C0162298
is_a: HP:0001376 ! Limitation of joint mobility

[Term]
id: HP:0001388
name: Joint laxity
alt_id: HP:0001380
alt_id: HP:0001383
alt_id: HP:0002771
def: "Lack of stability of a joint." [HPO:probinson]
comment: Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles.
synonym: "Hyperlaxity" EXACT []
synonym: "Joint instability" EXACT layperson [Sanford:krageth]
synonym: "Joint ligamentous laxity" EXACT []
synonym: "Lax joints" EXACT layperson []
synonym: "Ligamentous laxity" EXACT []
synonym: "Loose-jointedness" EXACT layperson []
synonym: "Loosejointedness" EXACT layperson []
xref: MSH:D007593
xref: SNOMEDCT_US:27911000
xref: SNOMEDCT_US:298203008
xref: UMLS:C0086437
xref: UMLS:C0158359
is_a: HP:0011729 ! Abnormality of joint mobility

[Term]
id: HP:0001392
name: Abnormality of the liver
def: "An abnormality of the liver." [HPO:probinson]
synonym: "Abnormal liver" EXACT layperson []
synonym: "Abnormality of the liver" EXACT layperson []
synonym: "Liver abnormality" EXACT layperson []
synonym: "Liver disease" RELATED layperson []
xref: MSH:D008107
xref: SNOMEDCT_US:235856003
xref: UMLS:C0023895
xref: UMLS:C4021780
is_a: HP:0002012 ! Abnormality of the abdominal organs

[Term]
id: HP:0001394
name: Cirrhosis
def: "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [HPO:probinson]
comment: Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies.
synonym: "Hepatic cirrhosis" EXACT []
synonym: "Liver cirrhosis" RELATED [HPO:skoehler]
synonym: "Scar tissue replaces healthy tissue in the liver" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D008103
xref: SNOMEDCT_US:19943007
xref: UMLS:C0023890
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0001395
name: Hepatic fibrosis
def: "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [HPO:probinson]
xref: MSH:D008103
xref: SNOMEDCT_US:62484002
xref: UMLS:C0239946
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0001396
name: Cholestasis
def: "Impairment of bile flow due to obstruction in bile ducts." [HPO:probinson]
synonym: "Slowed or blocked flow of bile from liver" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D002779
xref: SNOMEDCT_US:197446008
xref: SNOMEDCT_US:30144000
xref: SNOMEDCT_US:33688009
xref: UMLS:C0008370
is_a: HP:0004297 ! Abnormality of the biliary system

[Term]
id: HP:0001397
name: Hepatic steatosis
alt_id: HP:0002252
alt_id: HP:0200121
def: "The presence of steatosis in the liver." [eMedicine:175472, HPO:probinson]
comment: Steatosis refers to an abnormal accumulation of lipids within a cell or tissue.
synonym: "Fatty infiltration of liver" EXACT layperson []
synonym: "Fatty liver" EXACT layperson []
synonym: "Liver steatosis" EXACT []
synonym: "Steatosis" EXACT []
xref: MSH:D005234
xref: SNOMEDCT_US:197321007
xref: SNOMEDCT_US:442191002
xref: UMLS:C2711227
is_a: HP:0006561 ! Lipid accumulation in hepatocytes

[Term]
id: HP:0001399
name: Hepatic failure
synonym: "Liver failure" EXACT layperson []
xref: MSH:D017093
xref: SNOMEDCT_US:59927004
xref: UMLS:C0085605
is_a: HP:0001410 ! Decreased liver function

[Term]
id: HP:0001400
name: obsolete Hepatic abscesses due to immunodeficiency
is_obsolete: true
replaced_by: HP:0100523

[Term]
id: HP:0001401
name: Intrahepatic biliary dysgenesis
xref: UMLS:C1859235
is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct

[Term]
id: HP:0001402
name: Hepatocellular carcinoma
alt_id: HP:0002899
alt_id: HP:0003007
alt_id: HP:0006750
def: "A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver." [HPO:probinson]
comment: Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis.
synonym: "Increased hepatocellular carcinoma risk" RELATED []
synonym: "Increased incidence of hepatocellular carcinoma" RELATED []
xref: MSH:D006528
xref: NCIT:C3099
xref: SNOMEDCT_US:109841003
xref: SNOMEDCT_US:187769009
xref: SNOMEDCT_US:25370001
xref: UMLS:C1862761
xref: UMLS:C1867955
xref: UMLS:C2239176
is_a: HP:0002896 ! Neoplasm of the liver

[Term]
id: HP:0001403
name: Macrovesicular hepatic steatosis
def: "A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson]
synonym: "Macrovesicular steatosis" EXACT []
xref: UMLS:C1837256
is_a: HP:0001397 ! Hepatic steatosis

[Term]
id: HP:0001404
name: Hepatocellular necrosis
synonym: "Death of liver cells" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hepatocellular loss" EXACT []
xref: UMLS:C1855038
is_a: HP:0002605 ! Hepatic necrosis

[Term]
id: HP:0001405
name: Periportal fibrosis
def: "The presence of fibrosis affecting the interlobular stroma of liver." [HPO:probinson]
comment: Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells.
xref: UMLS:C1849766
is_a: HP:0001395 ! Hepatic fibrosis

[Term]
id: HP:0001406
name: Intrahepatic cholestasis
def: "Impairment of bile flow due to obstruction in the small bile ducts within the liver." [HPO:probinson]
synonym: "Impaired release of bile from liver" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D002780
xref: SNOMEDCT_US:4637005
xref: UMLS:C0008372
is_a: HP:0001396 ! Cholestasis
is_a: HP:0031865 ! Abnormal liver physiology

[Term]
id: HP:0001407
name: Hepatic cysts
synonym: "Liver cysts" EXACT layperson []
xref: SNOMEDCT_US:85057007
xref: UMLS:C0267834
is_a: HP:0006706 ! Cystic liver disease

[Term]
id: HP:0001408
name: Bile duct proliferation
def: "Proliferative changes of the bile ducts." [HPO:probinson]
synonym: "Proliferation of bile canaliculi" EXACT []
xref: SNOMEDCT_US:20239009
xref: UMLS:C0267818
is_a: HP:0012440 ! Abnormal biliary tract morphology

[Term]
id: HP:0001409
name: Portal hypertension
def: "Increased pressure in the portal vein." [HPO:probinson]
comment: Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg.
xref: MSH:D006975
xref: SNOMEDCT_US:34742003
xref: UMLS:C0020541
is_a: HP:0006707 ! Abnormality of the hepatic vasculature
is_a: HP:0032263 ! Increased blood pressure

[Term]
id: HP:0001410
name: Decreased liver function
alt_id: HP:0004393
alt_id: HP:0005228
alt_id: HP:0006570
def: "Reduced ability of the liver to perform its functions." [HPO:probinson]
synonym: "Decreased liver function" EXACT layperson []
synonym: "Liver dysfunction" EXACT layperson []
synonym: "Liver dysfunction, mild" RELATED layperson [HPO:skoehler]
xref: MSH:D008107
xref: SNOMEDCT_US:75183008
xref: SNOMEDCT_US:77981007
xref: UMLS:C0086565
xref: UMLS:C0232744
xref: UMLS:C3279149
is_a: HP:0025155 ! Abnormality of hepatobiliary system physiology

[Term]
id: HP:0001412
name: Enteroviral hepatitis
def: "Inflammation of the liver due to infection with enterovirus." [PMID:15056237]
xref: UMLS:C1843995
is_a: HP:0006562 ! Viral hepatitis

[Term]
id: HP:0001413
name: Micronodular cirrhosis
def: "A type of cirrhosis characterized by the presence of small regenerative nodules." [HPO:probinson]
comment: In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy.
xref: SNOMEDCT_US:21861000
xref: UMLS:C0267812
is_a: HP:0001394 ! Cirrhosis

[Term]
id: HP:0001414
name: Microvesicular hepatic steatosis
def: "A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson]
comment: This finding can be demonstrated by liver biopsy.
synonym: "Microvesicular steatosis" EXACT []
xref: UMLS:C1850415
is_a: HP:0001397 ! Hepatic steatosis

[Term]
id: HP:0001417
name: X-linked inheritance
alt_id: HP:0001418
def: "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
synonym: "X-linked" EXACT []
synonym: "X-linked form" RELATED [HPO:skoehler]
xref: MSH:D050172
xref: SNOMEDCT_US:263934009
xref: UMLS:C0241764
is_a: HP:0010985 ! Gonosomal inheritance

[Term]
id: HP:0001419
name: X-linked recessive inheritance
def: "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
synonym: "X-linked recessive" EXACT [HPO:skoehler]
xref: UMLS:C1845977
is_a: HP:0001417 ! X-linked inheritance

[Term]
id: HP:0001421
name: Abnormality of the musculature of the hand
synonym: "Abnormal hand muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025786
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
created_by: peter
creation_date: 2008-04-07T10:59:00Z

[Term]
id: HP:0001423
name: X-linked dominant inheritance
def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
synonym: "X-linked dominant" EXACT [HPO:skoehler]
xref: UMLS:C1847879
is_a: HP:0001417 ! X-linked inheritance

[Term]
id: HP:0001425
name: Heterogeneous
synonym: "Genetic heterogeneity" EXACT []
synonym: "Heterogeneity" EXACT []
xref: MSH:D018740
xref: UMLS:C0242960
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0001426
name: Multifactorial inheritance
alt_id: HP:0001429
alt_id: HP:0001472
def: "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases." [HPO:probinson]
comment: The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two.
synonym: "Familial predisposition" RELATED []
xref: MSH:D020412
xref: UMLS:C0600599
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0001427
name: Mitochondrial inheritance
alt_id: HP:0001431
alt_id: HP:0001458
alt_id: HP:0001506
def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [HPO:probinson]
synonym: "Mitochondrial" EXACT []
xref: MSH:D050259
xref: UMLS:C0887941
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0001428
name: Somatic mutation
def: "A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation." []
comment: This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations  occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases.
xref: SNOMEDCT_US:124975008
xref: UMLS:C0544886
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0001430
name: Abnormality of the calf musculature
alt_id: HP:0004300
synonym: "Abnormal calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of calf musculature" EXACT []
xref: UMLS:C4021779
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
created_by: peter
creation_date: 2008-04-07T10:18:00Z

[Term]
id: HP:0001433
name: Hepatosplenomegaly
def: "Simultaneous enlargement of the liver and spleen." [HPO:probinson]
synonym: "Enlarged liver and spleen" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:36760000
xref: UMLS:C0019214
is_a: HP:0003271 ! Visceromegaly
is_a: HP:0025408 ! Abnormal spleen morphology
is_a: HP:0410042 ! Abnormal liver morphology
created_by: peter
creation_date: 2008-02-20T10:51:00Z

[Term]
id: HP:0001435
name: Abnormality of the shoulder girdle musculature
alt_id: HP:0004301
synonym: "Abnormality of shoulder musculature" EXACT layperson []
xref: UMLS:C4021778
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
created_by: peter
creation_date: 2008-04-07T10:19:00Z

[Term]
id: HP:0001436
name: Abnormality of the foot musculature
def: "An anomaly of the musculature of foot." [HPO:probinson]
synonym: "Abnormal foot muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025785
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
created_by: peter
creation_date: 2008-04-07T10:21:00Z

[Term]
id: HP:0001437
name: Abnormality of the musculature of the lower limbs
xref: UMLS:C4025784
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0009127 ! Abnormality of the musculature of the limbs
created_by: peter
creation_date: 2008-04-07T10:21:00Z

[Term]
id: HP:0001438
name: Abnormality of abdomen morphology
def: "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [HPO:probinson]
synonym: "Abdomen abnormality" RELATED layperson []
synonym: "Abnormality of abdomen morphology" EXACT layperson []
synonym: "Abnormality of the abdomen" EXACT []
xref: UMLS:C4020869
is_a: HP:0025031 ! Abnormality of the digestive system

[Term]
id: HP:0001440
name: Metatarsal synostosis
alt_id: HP:0004705
alt_id: HP:0008098
synonym: "Fusion of metatarsals" EXACT []
synonym: "Fusion of the long bones of the feet" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Synostosis involving metatarsal bones" EXACT []
xref: UMLS:C1862697
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0009140 ! Synostosis involving bones of the feet
is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals
created_by: peter
creation_date: 2008-04-17T02:36:00Z

[Term]
id: HP:0001441
name: Abnormality of the musculature of the thigh
synonym: "Abnormal thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025783
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
created_by: peter
creation_date: 2008-04-07T10:27:00Z

[Term]
id: HP:0001442
name: Somatic mosaicism
def: "The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations." [HPO:probinson, pmid:12360233]
xref: UMLS:C1866227
is_a: HP:0001428 ! Somatic mutation

[Term]
id: HP:0001443
name: Abnormality of the gluteal musculature
synonym: "Abnormality of glutes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025782
is_a: HP:0001469 ! Abnormality of the musculature of the pelvis
created_by: peter
creation_date: 2008-04-07T10:31:00Z

[Term]
id: HP:0001444
name: Autosomal dominant somatic cell mutation
def: "Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body." []
xref: UMLS:C4025781
is_a: HP:0000006 ! Autosomal dominant inheritance

[Term]
id: HP:0001445
name: Abnormality of the hip-girdle musculature
xref: UMLS:C4025780
is_a: HP:0001469 ! Abnormality of the musculature of the pelvis
created_by: peter
creation_date: 2008-04-07T10:31:00Z

[Term]
id: HP:0001446
name: Abnormality of the musculature of the upper limbs
synonym: "Abnormal upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025779
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0009127 ! Abnormality of the musculature of the limbs
created_by: peter
creation_date: 2008-04-07T10:40:00Z

[Term]
id: HP:0001449
name: Duplication of metatarsal bones
synonym: "Duplication of long bones of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025778
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0009136 ! Duplication involving bones of the feet
created_by: peter
creation_date: 2008-04-17T02:37:00Z

[Term]
id: HP:0001450
name: Y-linked inheritance
def: "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators]
xref: MSH:D050173
xref: UMLS:C0814045
is_a: HP:0010985 ! Gonosomal inheritance

[Term]
id: HP:0001452
name: Autosomal dominant contiguous gene syndrome
xref: UMLS:C4025777
is_a: HP:0000006 ! Autosomal dominant inheritance
is_a: HP:0001466 ! Contiguous gene syndrome

[Term]
id: HP:0001454
name: Abnormality of the upper arm
xref: UMLS:C4025776
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: peter
creation_date: 2008-04-07T10:41:00Z

[Term]
id: HP:0001457
name: Abnormality of the musculature of the upper arm
xref: UMLS:C4025775
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0001454 ! Abnormality of the upper arm
created_by: peter
creation_date: 2008-04-07T10:42:00Z

[Term]
id: HP:0001459
name: 1-3 toe syndactyly
def: "Syndactyly with fusion of toes one to three." [HPO:sdoelken]
synonym: "Webbed 1st-3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025774
is_a: HP:0001770 ! Toe syndactyly

[Term]
id: HP:0001460
name: Aplasia/Hypoplasia involving the skeletal musculature
def: "Absence or underdevelopment of the musculature." [HPO:curators]
synonym: "Absent/small skeletal muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped skeletal muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025773
is_a: HP:0030236 ! Abnormality of muscle size
created_by: peter
creation_date: 2008-04-07T10:46:00Z

[Term]
id: HP:0001464
name: Aplasia/Hypoplasia involving the shoulder musculature
def: "Absence or underdevelopment of the muscles of the shoulder." [HPO:curators]
synonym: "Absent/small shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025772
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature
is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs
created_by: peter
creation_date: 2008-04-07T10:49:00Z

[Term]
id: HP:0001465
name: Amyotrophy involving the shoulder musculature
synonym: "Shoulder muscle degeneration" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Wasting of shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025771
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature
created_by: peter
creation_date: 2008-04-07T10:50:00Z

[Term]
id: HP:0001466
name: Contiguous gene syndrome
xref: UMLS:C1855496
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0001467
name: Aplasia/Hypoplasia involving the musculature of the upper limbs
def: "Absence or underdevelopment of the musculature of the upper limbs." [HPO:curators]
synonym: "Absent/small upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025770
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities
created_by: peter
creation_date: 2008-04-07T10:51:00Z

[Term]
id: HP:0001468
name: Aplasia/Hypoplasia involving the musculature of the upper arm
def: "Absence or underdevelopment of the muscles of the upper arm." [HPO:curators]
synonym: "Absent/small upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025769
is_a: HP:0001457 ! Abnormality of the musculature of the upper arm
is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs
created_by: peter
creation_date: 2008-04-07T10:52:00Z

[Term]
id: HP:0001469
name: Abnormality of the musculature of the pelvis
xref: UMLS:C4025768
is_a: HP:0003011 ! Abnormality of the musculature
created_by: peter
creation_date: 2008-04-07T10:55:00Z

[Term]
id: HP:0001470
name: Sex-limited autosomal dominant
xref: UMLS:C4025767
is_a: HP:0000006 ! Autosomal dominant inheritance

[Term]
id: HP:0001471
name: Aplasia/Hypoplasia of the musculature of the pelvis
synonym: "Absent/small pelvis muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pelvis muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025766
is_a: HP:0001469 ! Abnormality of the musculature of the pelvis
created_by: peter
creation_date: 2008-04-07T10:56:00Z

[Term]
id: HP:0001472
name: obsolete Familial predisposition
is_obsolete: true
replaced_by: HP:0001426

[Term]
id: HP:0001473
name: Metatarsal osteolysis
alt_id: HP:0001866
def: "Osteolysis involving metatarsal bones." [HPO:probinson]
synonym: "Osteolysis involving metatarsal bones" EXACT []
xref: UMLS:C1854614
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0009134 ! Osteolysis involving bones of the feet
created_by: peter
creation_date: 2008-04-17T02:38:00Z

[Term]
id: HP:0001474
name: Sclerotic scapulae
def: "Increased density of the bony tissue of the scapula." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C1849263
is_a: HP:0000782 ! Abnormality of the scapula
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0001475
name: Male-limited autosomal dominant
xref: UMLS:C4025764
is_a: HP:0001470 ! Sex-limited autosomal dominant

[Term]
id: HP:0001476
name: Delayed closure of the anterior fontanelle
def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson]
synonym: "Delayed closure anterior fontanel" EXACT []
synonym: "Delayed closure of anterior fontanelle" EXACT []
synonym: "Delayed closure of the bregma sutures" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Delayed closure of the soft spot on the skull" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Late closure of anterior fontanelle" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Late closure of large anterior fontanel" EXACT []
synonym: "Late closure of soft spot on the skull" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Late closure of the bregma sutures" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Later than typical closing of soft spot of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Persistent anterior fontanelle" EXACT []
xref: SNOMEDCT_US:295091000119100
xref: UMLS:C3840083
xref: UMLS:C4072831
is_a: HP:0000236 ! Abnormality of the anterior fontanelle
is_a: HP:0000270 ! Delayed cranial suture closure

[Term]
id: HP:0001477
name: Compensatory chin elevation
def: "A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement." [HPO:probinson]
synonym: "Compensatory head tilt/chin elevation" EXACT []
xref: UMLS:C1846911
is_a: HP:0031705 ! Compensatory head posture

[Term]
id: HP:0001480
name: Freckling
def: "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." []
synonym: "Freckling" EXACT layperson []
xref: MSH:D008548
xref: SNOMEDCT_US:403536009
xref: SNOMEDCT_US:699225003
xref: UMLS:C0016689
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0001482
name: Subcutaneous nodule
alt_id: HP:0005903
def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [HPO:probinson]
comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below.
subset: hposlim_core
synonym: "Firm lump under the skin" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Growth of abnormal tissue under the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Multiple, subcutaneous nodules" RELATED []
synonym: "Nodule below the skin" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Subcutaneous nodules" RELATED []
xref: SNOMEDCT_US:95325000
xref: UMLS:C0151811
xref: UMLS:C0746926
is_a: HP:0200036 ! Skin nodule

[Term]
id: HP:0001483
name: Eye poking
def: "Repetitive pressing, poking, and/or rubbing in the eyes." [HPO:probinson, pmid:8881355]
comment: Eye poking is usually observed in children with an intellectual and visual handicap.
xref: SNOMEDCT_US:78894008
xref: UMLS:C0233593
is_a: HP:0000733 ! Stereotypy

[Term]
id: HP:0001487
name: obsolete Hypopigmented fundi
is_obsolete: true
replaced_by: HP:0007894

[Term]
id: HP:0001488
name: Bilateral ptosis
synonym: "Drooping of both upper eyelids" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1865916
is_a: HP:0000508 ! Ptosis

[Term]
id: HP:0001489
name: Posterior vitreous detachment
def: "Separation of the vitreous humor from the retina." [HPO:probinson, PMID:24376338]
comment: The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment.
synonym: "Vitreous detachment" EXACT []
xref: MSH:D020255
xref: SNOMEDCT_US:247081001
xref: UMLS:C0423361
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0001491
name: Congenital fibrosis of extraocular muscles
def: "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements." [HPO:probinson]
subset: hposlim_core
synonym: "CFEOM" EXACT HP:0045077 [HPO:skoehler]
synonym: "Congenital fibrosis of the extraocular muscles" EXACT []
synonym: "Congenital ophthalmoplegia" EXACT [http://www.omim.org/entry/135700, ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: MSH:C580012
xref: SNOMEDCT_US:400946004
xref: UMLS:C1302995
is_a: HP:0008049 ! Abnormality of the extraocular muscles

[Term]
id: HP:0001492
name: Axenfeld anomaly
def: "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line." [HPO:probinson]
subset: hposlim_core
xref: MSH:C535679
xref: SNOMEDCT_US:204152008
xref: UMLS:C0266548
is_a: HP:0007700 ! Ocular anterior segment dysgenesis

[Term]
id: HP:0001493
name: Falciform retinal fold
alt_id: HP:0008013
def: "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [HPO:probinson]
synonym: "Congenital retinal fold" EXACT []
xref: SNOMEDCT_US:204181009
xref: UMLS:C0344550
is_a: HP:0008052 ! Retinal fold

[Term]
id: HP:0001495
name: Carpal osteolysis
def: "Osteolysis affecting carpal bones." [HPO:probinson]
subset: hposlim_core
synonym: "Carpal bone osteolysis" EXACT []
xref: UMLS:C1833734
is_a: HP:0001191 ! Abnormality of the carpal bones
is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs

[Term]
id: HP:0001498
name: Carpal bone hypoplasia
alt_id: HP:0001209
alt_id: HP:0006029
alt_id: HP:0006072
alt_id: HP:0006117
alt_id: HP:0006130
alt_id: HP:0006227
def: "Underdevelopment of one or more carpal bones." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplasia of carpal bones" EXACT []
synonym: "Hypoplastic carpal bones" EXACT []
synonym: "Small carpal bones" EXACT layperson []
synonym: "Small carpals" EXACT layperson []
synonym: "Small wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1863749
xref: UMLS:C4280594
is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones

[Term]
id: HP:0001500
name: Broad finger
alt_id: HP:0001497
def: "Increased width of a non-thumb digit of the hand." [pmid:19125433]
comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5".
subset: hposlim_core
synonym: "Broad finger" EXACT layperson []
synonym: "Broad fingers" EXACT layperson []
synonym: "Wide fingers" EXACT layperson []
xref: UMLS:C1844906
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0001501
name: 6 metacarpals
synonym: "6 long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861360
is_a: HP:0005917 ! Supernumerary metacarpal bones

[Term]
id: HP:0001504
name: Metacarpal osteolysis
synonym: "Metacarpals osteolysis" EXACT []
xref: UMLS:C1854610
is_a: HP:0001163 ! Abnormality of the metacarpal bones
is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs

[Term]
id: HP:0001507
name: Growth abnormality
alt_id: HP:0008904
synonym: "Abnormal growth" EXACT layperson []
synonym: "Growth abnormality" EXACT layperson []
synonym: "Growth issue" EXACT layperson []
xref: UMLS:C0262361
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001508
name: Failure to thrive
alt_id: HP:0001535
alt_id: HP:0008853
alt_id: HP:0008878
alt_id: HP:0008916
def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson]
comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile).
synonym: "Faltering weight" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Poor weight gain" RELATED layperson []
synonym: "Postnatal failure to thrive" EXACT []
synonym: "Undergrowth" BROAD layperson []
synonym: "Weight faltering" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:36440009
xref: SNOMEDCT_US:432788009
xref: UMLS:C0231246
xref: UMLS:C2315100
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0001510
name: Growth delay
alt_id: HP:0001434
alt_id: HP:0001512
alt_id: HP:0001514
alt_id: HP:0001517
alt_id: HP:0001532
alt_id: HP:0008847
alt_id: HP:0008870
alt_id: HP:0008886
alt_id: HP:0008893
alt_id: HP:0008926
def: "A deficiency or slowing down of growth pre- and postnatally." [HPO:probinson]
comment: Poor or abnormally slow gains in weight or height in a child.
synonym: "Delayed growth" EXACT layperson []
synonym: "Growth deficiency" EXACT layperson []
synonym: "Growth delay" EXACT layperson []
synonym: "Growth failure" EXACT layperson []
synonym: "Growth retardation" EXACT layperson []
synonym: "Poor growth" EXACT layperson []
synonym: "Retarded growth" EXACT layperson []
synonym: "Very poor growth" RELATED layperson [HPO:skoehler]
xref: SNOMEDCT_US:276617005
xref: SNOMEDCT_US:444896005
xref: SNOMEDCT_US:59576002
xref: UMLS:C0151686
xref: UMLS:C0456070
xref: UMLS:C0878787
xref: UMLS:C1837385
xref: UMLS:C3552463
is_a: HP:0001507 ! Growth abnormality

[Term]
id: HP:0001511
name: Intrauterine growth retardation
alt_id: HP:0001515
alt_id: HP:0008862
alt_id: HP:0008892
alt_id: HP:0008931
def: "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson]
comment: Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus.
synonym: "In utero growth retardation" EXACT []
synonym: "Intrauterine growth failure" EXACT []
synonym: "Intrauterine growth restriction" EXACT []
synonym: "Intrauterine growth retardation, IUGR" EXACT []
synonym: "Intrauterine retardation" EXACT []
synonym: "IUGR" EXACT HP:0045077 [HPO:skoehler]
synonym: "Prenatal growth deficiency" EXACT layperson []
synonym: "Prenatal growth failure" EXACT []
synonym: "Prenatal growth retardation" EXACT layperson []
synonym: "Prenatal onset growth retardation" EXACT []
synonym: "Prenatal-onset growth retardation" EXACT []
synonym: "Small for gestational age infant" EXACT []
xref: MSH:D005317
xref: MSH:D007236
xref: SNOMEDCT_US:199612005
xref: SNOMEDCT_US:22033007
xref: UMLS:C0015934
xref: UMLS:C0021296
xref: UMLS:C1386048
is_a: HP:0001510 ! Growth delay

[Term]
id: HP:0001513
name: Obesity
def: "Accumulation of substantial excess body fat." []
synonym: "Having too much body fat" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Obesity" EXACT layperson []
xref: MSH:D009765
xref: SNOMEDCT_US:414915002
xref: SNOMEDCT_US:414916001
xref: UMLS:C0028754
is_a: HP:0004324 ! Increased body weight

[Term]
id: HP:0001518
name: Small for gestational age
alt_id: HP:0001422
alt_id: HP:0008849
alt_id: HP:0008919
alt_id: HP:0008927
def: "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD:hfirth]
synonym: "Birth weight less than 10th percentile" EXACT layperson []
synonym: "Low birth weight" EXACT layperson []
synonym: "Small for gestational age" EXACT layperson []
xref: MSH:D007230
xref: SNOMEDCT_US:267258002
xref: SNOMEDCT_US:276610007
xref: UMLS:C0024032
xref: UMLS:C0235991
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0001519
name: Disproportionate tall stature
alt_id: HP:0003511
alt_id: HP:0008864
def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [DDD:hfirth, HPO:probinson]
synonym: "Dolichostenomelia" EXACT []
synonym: "Marfanoid body habitus" EXACT []
synonym: "Marfanoid habitus" EXACT []
synonym: "Reduced upper-lower segment ratio" EXACT []
xref: MSH:D054119
xref: SNOMEDCT_US:62250003
xref: UMLS:C0003706
xref: UMLS:C1836996
is_a: HP:0000098 ! Tall stature

[Term]
id: HP:0001520
name: Large for gestational age
alt_id: HP:0001825
def: "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, HPO:probinson]
comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate.
synonym: "Birth weight > 90th percentile" EXACT layperson []
synonym: "Birthweight > 90th percentile" EXACT layperson []
synonym: "Fetal macrosomia" EXACT []
synonym: "Macrosomia" EXACT []
synonym: "Macrosomia, neonatal" EXACT [HPO:skoehler]
xref: UMLS:C1848395
is_a: HP:0004324 ! Increased body weight

[Term]
id: HP:0001522
name: Death in infancy
alt_id: HP:0003816
alt_id: HP:0003817
alt_id: HP:0003818
alt_id: HP:0003823
alt_id: HP:0003827
def: "Death within the first 24 months of life." [HPO:probinson]
synonym: "Death in early childhood" RELATED layperson []
synonym: "Death in infancy" EXACT layperson []
synonym: "Infantile death" EXACT layperson []
synonym: "Lethal in infancy" EXACT layperson []
xref: UMLS:C1844947
xref: UMLS:C1858430
is_a: HP:0011420 ! Age of death

[Term]
id: HP:0001525
name: Severe failure to thrive
alt_id: HP:0008876
synonym: "Marked failure to thrive" EXACT []
synonym: "Severe faltering weight" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Severe postnatal failure to thrive" EXACT []
synonym: "Severe weight faltering" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1855514
is_a: HP:0001508 ! Failure to thrive

[Term]
id: HP:0001528
name: Hemihypertrophy
alt_id: HP:0006416
def: "Overgrowth of only one side of the body." [HPO:probinson]
synonym: "Asymmetric limb hypertrophy" EXACT []
synonym: "Asymmetric overgrowth" EXACT layperson []
xref: SNOMEDCT_US:205838004
xref: SNOMEDCT_US:56007004
xref: UMLS:C0332890
is_a: HP:0040064 ! Abnormality of limbs
is_a: HP:0100555 ! Asymmetric growth

[Term]
id: HP:0001530
name: Mild postnatal growth retardation
alt_id: HP:0008860
alt_id: HP:0008917
def: "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms." [DDD:hfirth]
synonym: "Mild growth deficiency" RELATED layperson []
synonym: "Postnatal onset of mild growth retardation" EXACT []
xref: UMLS:C1835580
xref: UMLS:C3550204
is_a: HP:0008897 ! Postnatal growth retardation

[Term]
id: HP:0001531
name: Failure to thrive in infancy
alt_id: HP:0008863
alt_id: HP:0008925
synonym: "Failure to thrive in first year of life" EXACT []
synonym: "Faltering weight in infancy" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Weight faltering in infancy" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1867873
is_a: HP:0001508 ! Failure to thrive

[Term]
id: HP:0001533
name: Slender build
alt_id: HP:0001529
def: "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:probinson]
comment: Slender, long-limbed habitus.
synonym: "Asthenic habitus" EXACT []
synonym: "Slender build" EXACT layperson []
synonym: "Thin body habitus" EXACT []
synonym: "Thin build" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1850573
is_a: HP:0000098 ! Tall stature
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0001537
name: Umbilical hernia
def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:probinson]
subset: hposlim_core
synonym: "Umbilical hernias" EXACT []
xref: Fyler:4445
xref: SNOMEDCT_US:396347007
xref: UMLS:C0019322
is_a: HP:0001551 ! Abnormal umbilicus morphology
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0001538
name: Protuberant abdomen
def: "A thrusting or bulging out of the abdomen." [HPO:probinson]
synonym: "Abdominal protuberance" EXACT []
synonym: "Belly sticks out" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Extended belly" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1854928
is_a: HP:0003270 ! Abdominal distention

[Term]
id: HP:0001539
name: Omphalocele
def: "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [HPO:probinson]
subset: hposlim_core
synonym: "Omphalocoele" EXACT []
xref: Fyler:4404
xref: MEDDRA:10030309 "Omphalocoele"
xref: MSH:D006554
xref: SNOMEDCT_US:18735004
xref: UMLS:C0795690
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0001540
name: Diastasis recti
def: "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)." [HPO:probinson]
comment: Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns.
subset: hposlim_core
synonym: "Gap between large left and right abdominal muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:62629000
xref: UMLS:C0221766
is_a: HP:0010991 ! Abnormality of the abdominal musculature

[Term]
id: HP:0001541
name: Ascites
def: "Accumulation of fluid in the peritoneal cavity." [HPO:probinson]
comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels.
subset: hposlim_core
synonym: "Accumulation of fluid in the abdomen" EXACT layperson []
xref: MSH:D001201
xref: SNOMEDCT_US:389026000
xref: UMLS:C0003962
is_a: HP:0001438 ! Abnormality of abdomen morphology

[Term]
id: HP:0001543
name: Gastroschisis
def: "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus." [HPO:probinson]
subset: hposlim_core
xref: MEDDRA:10018046 "Gastroschisis"
xref: MSH:D020139
xref: SNOMEDCT_US:72951007
xref: UMLS:C0265706
is_a: HP:0010866 ! Abdominal wall defect

[Term]
id: HP:0001544
name: Prominent umbilicus
def: "Abnormally prominent umbilicus (belly button)." [HPO:curators]
synonym: "Prominent belly button" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Prominent navel" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1837795
is_a: HP:0001551 ! Abnormal umbilicus morphology

[Term]
id: HP:0001545
name: Anteriorly placed anus
def: "Anterior malposition of the anus." [HPO:probinson]
subset: hposlim_core
synonym: "Anteriorly displaced anus" EXACT []
synonym: "Anus anteposition" EXACT []
xref: UMLS:C1838705
is_a: HP:0004397 ! Ectopic anus

[Term]
id: HP:0001547
name: Abnormality of the rib cage
def: "A morphological anomaly of the rib cage." [HPO:probinson]
synonym: "Abnormality of the rib cage" EXACT layperson []
xref: UMLS:C4025763
is_a: HP:0000765 ! Abnormality of the thorax

[Term]
id: HP:0001548
name: Overgrowth
def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [HPO:probinson]
synonym: "Fetal overgrowth" RELATED [HPO:skoehler]
synonym: "General overgrowth" EXACT layperson []
synonym: "Generalized overgrowth" RELATED [HPO:skoehler]
xref: UMLS:C1849265
xref: UMLS:C1851731
xref: UMLS:C3150281
is_a: HP:0000098 ! Tall stature

[Term]
id: HP:0001549
name: Abnormal ileum morphology
synonym: "Abnormality of the ileum" EXACT []
xref: UMLS:C4025762
is_a: HP:0002244 ! Abnormality of the small intestine
created_by: peter
creation_date: 2008-02-20T11:05:00Z

[Term]
id: HP:0001551
name: Abnormal umbilicus morphology
def: "An abnormality of the structure or appearance of the umbilicus." [HPO:probinson]
comment: The umbilicus is also known as the belly button or the navel.
synonym: "Abnormal belly button" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal navel" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal umbilicus" EXACT []
xref: UMLS:C1849338
is_a: HP:0004298 ! Abnormality of the abdominal wall

[Term]
id: HP:0001552
name: Barrel-shaped chest
alt_id: HP:0000781
alt_id: HP:0001553
def: "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis." [HPO:probinson]
comment: Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease.
subset: hposlim_core
synonym: "Barrel chest" EXACT layperson []
synonym: "Barrel-shaped chest" EXACT layperson []
xref: SNOMEDCT_US:24228002
xref: UMLS:C0264172
is_a: HP:0100625 ! Enlarged thorax

[Term]
id: HP:0001555
name: Asymmetry of the thorax
def: "Lack of symmetry between the left and right halves of the thorax." [HPO:probinson]
subset: hposlim_core
synonym: "Asymmetric chest" EXACT layperson []
xref: UMLS:C1858033
is_a: HP:0001547 ! Abnormality of the rib cage

[Term]
id: HP:0001557
name: Prenatal movement abnormality
alt_id: HP:0007629
def: "An abnormality of fetal movement." [HPO:probinson]
comment: Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'.
synonym: "Abnormal intrauterine movements" EXACT []
xref: UMLS:C1849510
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001558
name: Decreased fetal movement
alt_id: HP:0001559
alt_id: HP:0006840
alt_id: HP:0007630
alt_id: HP:0007631
def: "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators]
synonym: "Decreased fetal activity" EXACT []
synonym: "Decreased fetal movements" EXACT []
synonym: "Decreased movement in utero" EXACT []
synonym: "Fetal hypokinesia" EXACT []
synonym: "Less than 10 fetal movements in 12 hours" EXACT layperson [PMID:2729383]
synonym: "Reduced fetal movement" EXACT []
synonym: "Reduced fetal movements" EXACT []
xref: SNOMEDCT_US:276369006
xref: UMLS:C0235659
is_a: HP:0001557 ! Prenatal movement abnormality

[Term]
id: HP:0001560
name: Abnormality of the amniotic fluid
def: "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [HPO:curators]
synonym: "Abnormal amniotic fluid" EXACT []
xref: SNOMEDCT_US:42170009
xref: UMLS:C0266781
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001561
name: Polyhydramnios
alt_id: HP:0005098
def: "The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson]
comment: Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age.
synonym: "High levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Hydramnios" EXACT []
xref: MSH:D006831
xref: SNOMEDCT_US:86203003
xref: UMLS:C0020224
is_a: HP:0001560 ! Abnormality of the amniotic fluid

[Term]
id: HP:0001562
name: Oligohydramnios
alt_id: HP:0004638
def: "Diminished amniotic fluid volume in pregnancy." [HPO:probinson]
comment: Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm.
synonym: "Low levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Maternal oligohydramnios" EXACT []
xref: MSH:D016104
xref: SNOMEDCT_US:59566000
xref: UMLS:C0079924
xref: UMLS:C3550658
is_a: HP:0001560 ! Abnormality of the amniotic fluid

[Term]
id: HP:0001563
name: Fetal polyuria
def: "Abnormally increased production of urine by the fetus resulting in polyhydramnios." [HPO:probinson, pmid:21460147]
comment: The fetal urine production rate can be measured by ultrasonography.
xref: UMLS:C1865279
is_a: HP:0001560 ! Abnormality of the amniotic fluid

[Term]
id: HP:0001566
name: Widely-spaced maxillary central incisors
alt_id: HP:0000669
alt_id: HP:0001570
alt_id: HP:0006300
alt_id: HP:0006324
def: "Increased distance between the maxillary central permanent incisor tooth." [HPO:ibailleulforestier]
synonym: "Central incisor gap" BROAD layperson []
synonym: "Diastasis of the central incisors" EXACT []
synonym: "Diastema between maxillary central incisors" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Diastema between upper front teeth" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Diastema between upper incisors" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Gap between upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Separated superior central incisors" EXACT []
synonym: "Wide gap between upper central incisors" EXACT layperson []
synonym: "Wide upper central incisors" EXACT []
synonym: "Widely spaced upper incisors" EXACT layperson []
xref: UMLS:C1835762
xref: UMLS:C1845110
xref: UMLS:C4280252
is_a: HP:0006304 ! Widely-spaced incisors

[Term]
id: HP:0001571
name: Multiple impacted teeth
def: "The presence of multiple impacted teeth." [HPO:ibailleulforestier]
synonym: "Impacted teeth" EXACT layperson []
synonym: "Multiple buried teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Multiple impacted teeth" EXACT layperson []
synonym: "Multiple retained teeth" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C1839965
xref: UMLS:C4280593
is_a: HP:0011079 ! Impacted tooth

[Term]
id: HP:0001572
name: Macrodontia
def: "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [HPO:ibailleulforestier, pmid:19125428]
comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased.
subset: hposlim_core
synonym: "Hyperplasia of tooth" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of tooth" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased size of tooth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large teeth" EXACT []
synonym: "Large tooth" BROAD layperson []
synonym: "Tooth mass excess" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:71485000
xref: UMLS:C0266036
xref: UMLS:C4280590
xref: UMLS:C4280591
xref: UMLS:C4280592
is_a: HP:0006482 ! Abnormality of dental morphology

[Term]
id: HP:0001574
name: Abnormality of the integument
def: "An abnormality of the integument, which consists of the skin and the superficial fascia." [HPO:probinson]
comment: Abnormality of skin, hair, or nails.
xref: UMLS:C4025761
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001575
name: Mood changes
synonym: "Mood alterations" EXACT []
synonym: "Moody" EXACT layperson []
xref: SNOMEDCT_US:18963009
xref: UMLS:C0085633
is_a: HP:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0001579
name: Primary hypercortisolism
def: "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol." [HPO:probinson]
synonym: "ACTH-independent hypercortisolemia" RELATED []
xref: UMLS:C1968852
xref: UMLS:C4025760
is_a: HP:0003118 ! Increased circulating cortisol level

[Term]
id: HP:0001580
name: Pigmented micronodular adrenocortical disease
xref: UMLS:C1968851
is_a: HP:0000849 ! Adrenocortical abnormality

[Term]
id: HP:0001581
name: Recurrent skin infections
alt_id: HP:0007563
def: "Infections of the skin that happen multiple times." [HPO:curators]
synonym: "Cutaneous infections" EXACT []
synonym: "Recurrent skin infections" EXACT layperson []
synonym: "Skin infections" EXACT layperson []
synonym: "Skin infections, recurrent" EXACT layperson [HPO:skoehler]
xref: UMLS:C1853193
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0001582
name: Redundant skin
alt_id: HP:0007391
def: "Loose and sagging skin often associated with loss of skin elasticity." [HPO:probinson]
synonym: "Loose redundant skin" EXACT layperson []
synonym: "Redundant skin folds" EXACT layperson []
synonym: "Sagging, redundant skin" EXACT layperson []
xref: SNOMEDCT_US:201093004
xref: UMLS:C0581342
is_a: HP:0000973 ! Cutis laxa

[Term]
id: HP:0001583
name: Rotary nystagmus
def: "A form of nystagmus in which the eyeball makes rotary motions around the axis." [HPO:probinson]
subset: hposlim_core
synonym: "Rotatory Nystagmus" EXACT []
xref: MSH:D009759
xref: SNOMEDCT_US:44526006
xref: SNOMEDCT_US:95783006
xref: UMLS:C0240595
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0001586
name: Vesicovaginal fistula
def: "The presence of a fistula connecting the urinary bladder to the vagina." [HPO:probinson]
xref: MSH:D014719
xref: SNOMEDCT_US:89405008
xref: UMLS:C0042582
is_a: HP:0004320 ! Vaginal fistula
is_a: HP:0004321 ! Bladder fistula

[Term]
id: HP:0001587
name: obsolete Primary ovarian failure
is_obsolete: true

[Term]
id: HP:0001591
name: Bell-shaped thorax
alt_id: HP:0006626
alt_id: HP:0006664
def: "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." [HPO:probinson]
comment: A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities.
subset: hposlim_core
synonym: "Bell-shaped chest" EXACT []
synonym: "Constricted, bell-shaped thorax" EXACT []
synonym: "Narrow, bell-shaped thorax" EXACT []
xref: UMLS:C1865186
is_a: HP:0001547 ! Abnormality of the rib cage

[Term]
id: HP:0001592
name: Selective tooth agenesis
def: "Agenesis specifically affecting one of the classes incisor, premolar, or molar." [HPO:ibailleulforestier]
synonym: "Absence of a tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of a tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of a tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing a tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1970308
xref: UMLS:C4280251
is_a: HP:0009804 ! Reduced number of teeth

[Term]
id: HP:0001593
name: Maxillary lateral incisor microdontia
def: "Decreased size of the maxillary permanent incisor." [HPO:ibailleulforestier]
synonym: "Decreased size of maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Small maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Small upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C1845111
xref: UMLS:C4280588
xref: UMLS:C4280589
is_a: HP:0000691 ! Microdontia
is_a: HP:0011063 ! Abnormality of incisor morphology

[Term]
id: HP:0001595
name: Abnormal hair morphology
def: "An abnormality of the hair." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the hair" EXACT layperson []
synonym: "Abnormality of the hair shaft" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Hair abnormality" EXACT layperson []
xref: UMLS:C0157733
xref: UMLS:C2677869
is_a: HP:0011138 ! Abnormality of skin adnexa morphology

[Term]
id: HP:0001596
name: Alopecia
alt_id: HP:0002238
alt_id: HP:0008068
def: "Loss of hair from the head or body." [HPO:probinson]
subset: hposlim_core
synonym: "Hair loss" EXACT layperson []
xref: MEDDRA:10001760 "Alopecia"
xref: MSH:D000505
xref: SNOMEDCT_US:278040002
xref: SNOMEDCT_US:56317004
xref: UMLS:C0002170
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0001597
name: Abnormality of the nail
def: "Abnormality of the nail." [HPO:probinson]
comment: Abnormality of the fingernails and/or toenails.
synonym: "Abnormality of the nail" EXACT layperson []
synonym: "Nail disease" RELATED layperson []
xref: MSH:D009260
xref: MSH:D009264
xref: SNOMEDCT_US:17790008
xref: UMLS:C0027339
xref: UMLS:C0853087
is_a: HP:0011138 ! Abnormality of skin adnexa morphology

[Term]
id: HP:0001598
name: Concave nail
alt_id: HP:0001815
def: "The natural longitudinal (posterodistal) convex arch is not present or is inverted." [pmid:19125433]
comment: Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave.
subset: hposlim_core
synonym: "Koilonychia" EXACT []
synonym: "Spoon-shaped nails" EXACT layperson []
xref: SNOMEDCT_US:66270006
xref: UMLS:C0221261
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001600
name: Abnormality of the larynx
def: "An abnormality of the larynx." [HPO:probinson]
synonym: "Laryngeal abnormalities" EXACT []
synonym: "Laryngeal anomalies" EXACT []
xref: UMLS:C4021777
is_a: HP:0002087 ! Abnormality of the upper respiratory tract

[Term]
id: HP:0001601
name: Laryngomalacia
def: "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [HPO:probinson]
comment: Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor.
synonym: "Softening of voice box tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D055092
xref: SNOMEDCT_US:38086007
xref: UMLS:C0264303
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0001602
name: Laryngeal stenosis
def: "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing." [HPO:probinson]
xref: MSH:D007829
xref: SNOMEDCT_US:75547007
xref: UMLS:C0023075
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0001604
name: Vocal cord paresis
alt_id: HP:0001603
alt_id: HP:0001616
alt_id: HP:0008745
def: "Decreased strength of the vocal folds." [HPO:probinson]
comment: Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat.
synonym: "Hoarse voice due to vocal cord paresis" EXACT []
synonym: "Vocal cord paresis in severe cases" EXACT []
synonym: "Weakness of the vocal cords" EXACT layperson []
xref: MSH:D014826
xref: SNOMEDCT_US:302912005
xref: SNOMEDCT_US:445424004
xref: UMLS:C0751576
xref: UMLS:C1832690
xref: UMLS:C1843187
xref: UMLS:C1853729
is_a: HP:0001605 ! Vocal cord paralysis

[Term]
id: HP:0001605
name: Vocal cord paralysis
alt_id: HP:0001606
alt_id: HP:0006847
def: "A loss of the ability to move the vocal folds." [HPO:probinson]
comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties.
synonym: "Inability to move vocal cords" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Laryngeal paralysis" EXACT []
xref: MSH:D014826
xref: SNOMEDCT_US:302912005
xref: UMLS:C0042928
xref: UMLS:C1854345
is_a: HP:0003470 ! Paralysis
is_a: HP:0031801 ! Vocal cord dysfunction

[Term]
id: HP:0001606
name: obsolete Vocal cord paralysis (caused by tumor impingement)
is_obsolete: true
replaced_by: HP:0001605

[Term]
id: HP:0001607
name: Subglottic stenosis
xref: SNOMEDCT_US:22668006
xref: UMLS:C0238441
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0001608
name: Abnormality of the voice
comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth.
synonym: "Abnormality of the voice" EXACT layperson []
synonym: "Voice abnormality" EXACT layperson []
xref: UMLS:C4021776
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001609
name: Hoarse voice
alt_id: HP:0001613
alt_id: HP:0001619
def: "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [HPO:probinson]
synonym: "Hoarse voice" EXACT layperson []
synonym: "Hoarseness" EXACT layperson []
synonym: "Husky voice" EXACT layperson []
xref: MSH:D006685
xref: SNOMEDCT_US:50219008
xref: UMLS:C0019825
xref: UMLS:C1854348
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0001611
name: Nasal speech
alt_id: HP:0001614
def: "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech." [HPO:sdoelken]
comment: May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy.
synonym: "Hypernasal speech" EXACT []
synonym: "Hypernasal voice" EXACT []
synonym: "Nasal speech" EXACT layperson []
synonym: "Nasal voice" EXACT layperson []
xref: SNOMEDCT_US:229645001
xref: SNOMEDCT_US:289190003
xref: UMLS:C0454555
xref: UMLS:C0566620
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0001612
name: Weak cry
xref: SNOMEDCT_US:2120003
xref: UMLS:C0234860
is_a: HP:0025429 ! Abnormal cry

[Term]
id: HP:0001613
name: obsolete Hoarse voice (caused by tumor impingement)
is_obsolete: true
replaced_by: HP:0001609

[Term]
id: HP:0001615
name: Hoarse cry
synonym: "Hoarse cry" EXACT layperson []
xref: UMLS:C2678303
is_a: HP:0001609 ! Hoarse voice

[Term]
id: HP:0001618
name: Dysphonia
def: "An impairment in the ability to produce voice sounds." [HPO:probinson]
synonym: "Inability to produce voice sounds" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D055154
xref: SNOMEDCT_US:47004009
xref: UMLS:C1527344
is_a: HP:0001608 ! Abnormality of the voice
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0001620
name: High pitched voice
alt_id: HP:0001610
alt_id: HP:0008374
alt_id: HP:0008377
alt_id: HP:0008378
alt_id: HP:0008379
alt_id: HP:0009146
def: "An abnormal increase in the pitch (frequency) of the voice." [HPO:probinson]
synonym: "High pitched voice" EXACT layperson []
synonym: "High-pitched voice" EXACT []
xref: SNOMEDCT_US:51406002
xref: UMLS:C0241703
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0001621
name: Weak voice
def: "Reduced intensity (volume) of speech." [HPO:probinson]
comment: Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization.
synonym: "Hypophonia" RELATED []
synonym: "Soft voice" EXACT layperson []
synonym: "Weak voice" EXACT layperson []
xref: MSH:D014832
xref: SNOMEDCT_US:34527004
xref: SNOMEDCT_US:8614008
xref: UMLS:C0241700
xref: UMLS:C0521007
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0001622
name: Premature birth
def: "The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson]
synonym: "Premature birth" EXACT layperson []
synonym: "Premature delivery" EXACT []
synonym: "Premature delivery of affected infants" EXACT layperson []
synonym: "Preterm delivery" EXACT layperson []
synonym: "Shortened gestation time" EXACT []
xref: MSH:D047928
xref: SNOMEDCT_US:282020008
xref: SNOMEDCT_US:367494004
xref: SNOMEDCT_US:49550006
xref: UMLS:C0151526
xref: UMLS:C0233315
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001623
name: Breech presentation
def: "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [HPO:probinson]
synonym: "Breech presentation at birth" EXACT []
synonym: "Feet or buttocks of fetus positioned near opening of uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D001946
xref: SNOMEDCT_US:249101006
xref: SNOMEDCT_US:6096002
xref: UMLS:C0006157
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0001626
name: Abnormality of the cardiovascular system
def: "Any abnormality of the cardiovascular system." [HPO:probinson]
comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system.
synonym: "Abnormality of the cardiovascular system" EXACT layperson []
synonym: "Cardiac anomaly" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Cardiovascular abnormality" EXACT layperson []
synonym: "Cardiovascular disease" RELATED layperson []
xref: MSH:D002318
xref: MSH:D018376
xref: SNOMEDCT_US:49601007
xref: UMLS:C0007222
xref: UMLS:C0243050
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001627
name: Abnormal heart morphology
alt_id: HP:3000001
def: "Any structural anomaly of the heart." [HPO:probinson]
synonym: "Abnormality of cardiac morphology" EXACT []
synonym: "Abnormality of the heart" EXACT layperson []
synonym: "Abnormally shaped heart" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cardiac abnormality" EXACT []
synonym: "Cardiac anomalies" EXACT []
synonym: "Congenital heart defect" EXACT []
synonym: "Congenital heart defects" EXACT []
xref: MSH:D006330
xref: SNOMEDCT_US:13213009
xref: UMLS:C0018798
xref: UMLS:C0152021
is_a: HP:0030680 ! Abnormality of cardiovascular system morphology

[Term]
id: HP:0001629
name: Ventricular septal defect
alt_id: HP:0001652
def: "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
synonym: "Hole in heart wall separating two lower heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Ventricular septal defects" EXACT []
synonym: "Ventriculoseptal defect" EXACT []
xref: Fyler:1300
xref: MSH:D006345
xref: SNOMEDCT_US:253549006
xref: SNOMEDCT_US:30288003
xref: UMLS:C0018818
is_a: HP:0010438 ! Abnormal ventricular septum morphology

[Term]
id: HP:0001631
name: Atrial septal defect
alt_id: HP:0001630
def: "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [DDD:dbrown, HPO:probinson]
synonym: "An opening in the wall separating the top two chambers of the heart" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "ASD" EXACT HP:0045077 [HPO:skoehler]
synonym: "Atria septal defect" EXACT []
synonym: "Atrial septum defect" EXACT []
synonym: "Defect in the atrial septum" EXACT []
synonym: "Hole in heart wall separating two upper heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: Fyler:2050
xref: ICD-10:Q21.1
xref: MSH:D006344
xref: SNOMEDCT_US:253366007
xref: SNOMEDCT_US:405752007
xref: SNOMEDCT_US:70142008
xref: UMLS:C0018817
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
is_a: HP:0011994 ! Abnormal atrial septum morphology

[Term]
id: HP:0001633
name: Abnormal mitral valve morphology
alt_id: HP:0031477
def: "Any structural anomaly of the mitral valve." [HPO:probinson]
synonym: "Abnormality of the mitral valve" EXACT []
xref: UMLS:C4025759
is_a: HP:0006705 ! Abnormal atrioventricular valve morphology

[Term]
id: HP:0001634
name: Mitral valve prolapse
def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson]
comment: Mitral valve prolapse can be associated with mitral regurgitation.
xref: Fyler:1533
xref: MSH:D008945
xref: SNOMEDCT_US:409712001
xref: SNOMEDCT_US:8074002
xref: UMLS:C0026267
is_a: HP:0001633 ! Abnormal mitral valve morphology

[Term]
id: HP:0001635
name: Congestive heart failure
alt_id: HP:0006686
def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:probinson]
synonym: "Cardiac failure" EXACT layperson []
synonym: "Cardiac failures" EXACT layperson [HPO:skoehler]
synonym: "Cardiac insufficiency" EXACT []
synonym: "CHF" EXACT HP:0045077 []
synonym: "Chronic heart failure" EXACT []
synonym: "Heart failure" EXACT layperson []
xref: MSH:D006333
xref: SNOMEDCT_US:42343007
xref: SNOMEDCT_US:84114007
xref: UMLS:C0018801
xref: UMLS:C0018802
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0001636
name: Tetralogy of Fallot
def: "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:probinson]
synonym: "Tetrology of fallot" EXACT []
xref: ICD-10:Q21.3
xref: MSH:D013771
xref: SNOMEDCT_US:86299006
xref: UMLS:C0039685
is_a: HP:0001710 ! Conotruncal defect

[Term]
id: HP:0001637
name: Abnormal myocardium morphology
def: "A structural anomaly of the muscle layer of the heart wall." []
synonym: "Abnormality of the myocardium" EXACT []
xref: UMLS:C4025758
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001638
name: Cardiomyopathy
def: "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [HPO:probinson, pmid:17916581]
synonym: "Disease of the heart muscle" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: Fyler:1840
xref: MSH:D009202
xref: SNOMEDCT_US:57809008
xref: SNOMEDCT_US:85898001
xref: UMLS:C0878544
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0001639
name: Hypertrophic cardiomyopathy
def: "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality." [pmid:17916581]
synonym: "Cardiomyopathy, hypertrophic" EXACT []
synonym: "Enlarged and thickened heart muscle" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D002312
xref: SNOMEDCT_US:233873004
xref: SNOMEDCT_US:45227007
xref: UMLS:C0007194
is_a: HP:0001638 ! Cardiomyopathy

[Term]
id: HP:0001640
name: Cardiomegaly
def: "Increased size of the heart." [HPO:probinson]
synonym: "Enlarged heart" EXACT layperson []
synonym: "Increased heart size" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006332
xref: SNOMEDCT_US:8186001
xref: UMLS:C0018800
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001641
name: Abnormal pulmonary valve morphology
def: "Any structural abnormality of the pulmonary valve." [HPO:probinson]
synonym: "Abnormality of the pulmonary valve" EXACT []
synonym: "Anomaly of the pulmonary valve" EXACT []
xref: Fyler:1600
xref: Fyler:1602
xref: SNOMEDCT_US:448643005
xref: UMLS:C3164374
is_a: HP:0001654 ! Abnormal heart valve morphology

[Term]
id: HP:0001642
name: Pulmonic stenosis
def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson]
comment: Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction.
synonym: "Narrowing of pulmonic valve" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Pulmonary stenosis" EXACT []
synonym: "Pulmonary valve stenosis" EXACT []
synonym: "Pulmonic valve stenosis" EXACT []
xref: Fyler:1611
xref: MSH:D011666
xref: SNOMEDCT_US:56786000
xref: UMLS:C1956257
is_a: HP:0031654 ! Abnormal pulmonary valve physiology

[Term]
id: HP:0001643
name: Patent ductus arteriosus
def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, pmid:20421261]
synonym: "Ductus arteriosus" EXACT []
synonym: "Persistent arterial duct" EXACT []
synonym: "Persistent ductus arteriosus" EXACT []
xref: Fyler:2100
xref: MSH:D004374
xref: SNOMEDCT_US:83330001
xref: UMLS:C0013274
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0001644
name: Dilated cardiomyopathy
alt_id: HP:0001725
alt_id: HP:0005159
alt_id: HP:0200130
def: "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [pmid:17916581]
synonym: "Cardiomyopathy, dilated" EXACT []
synonym: "Congestive cardiomyopathy" EXACT []
synonym: "Stretched and thinned heart muscle" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: Fyler:1843
xref: MSH:D002311
xref: SNOMEDCT_US:195021004
xref: SNOMEDCT_US:399020009
xref: UMLS:C0007193
is_a: HP:0001638 ! Cardiomyopathy

[Term]
id: HP:0001645
name: Sudden cardiac death
alt_id: HP:0005161
def: "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [HPO:probinson]
synonym: "Premature sudden cardiac death" EXACT layperson []
synonym: "Sudden cardiac death" EXACT layperson []
xref: MSH:D016757
xref: SNOMEDCT_US:95281009
xref: UMLS:C0085298
is_a: HP:0001695 ! Cardiac arrest

[Term]
id: HP:0001646
name: Abnormal aortic valve morphology
def: "Any abnormality of the aortic valve." [HPO:curators]
synonym: "Abnormality of the aortic valve" EXACT []
xref: Fyler:1400
xref: Fyler:1408
xref: SNOMEDCT_US:448743001
xref: UMLS:C3164445
is_a: HP:0001654 ! Abnormal heart valve morphology

[Term]
id: HP:0001647
name: Bicuspid aortic valve
def: "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)." [HPO:probinson, PMID:17467434, PMID:24827036]
comment: A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036].
synonym: "Aortic valve has two leaflets rather than three" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:C562388
xref: SNOMEDCT_US:72352009
xref: UMLS:C0149630
is_a: HP:0031567 ! Abnormal aortic valve cusp morphology

[Term]
id: HP:0001648
name: Cor pulmonale
def: "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle." [HPO:probinson]
comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy.
xref: MSH:D011660
xref: SNOMEDCT_US:274096000
xref: SNOMEDCT_US:83291003
xref: UMLS:C0034072
is_a: HP:0001707 ! Abnormal right ventricle morphology

[Term]
id: HP:0001649
name: Tachycardia
alt_id: HP:0001673
alt_id: HP:0001720
def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:probinson]
synonym: "Elevated heart rate" RELATED layperson []
synonym: "Fast heart rate" EXACT layperson []
synonym: "Heart racing" EXACT layperson []
synonym: "Increased heart rate" RELATED layperson []
synonym: "Racing heart" EXACT layperson []
synonym: "Rapid heart beat" RELATED layperson []
xref: MSH:D013610
xref: SNOMEDCT_US:3424008
xref: SNOMEDCT_US:86651002
xref: UMLS:C0039231
xref: UMLS:C4020868
is_a: HP:0011675 ! Arrhythmia

[Term]
id: HP:0001650
name: Aortic valve stenosis
alt_id: HP:0005140
def: "The presence of a stenosis (narrowing) of the aortic valve." [HPO:probinson]
comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance.
synonym: "Aortic stenosis" EXACT []
synonym: "Narrowing of aortic valve" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Valvular aortic stenosis" EXACT []
xref: Fyler:1411
xref: MSH:D001024
xref: SNOMEDCT_US:60573004
xref: UMLS:C0003507
is_a: HP:0031652 ! Abnormal aortic valve physiology

[Term]
id: HP:0001651
name: Dextrocardia
def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [DDD:dbrown, HPO:sdoelken]
synonym: "Heart tip and four chambers point towards right side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Thoracic situs inversus" EXACT []
xref: EPCC:02.01.02
xref: Fyler:0110
xref: Fyler:110
xref: ICD-10:Q24.0
xref: MSH:D003914
xref: SNOMEDCT_US:27637000
xref: UMLS:C0011813
is_a: HP:0004307 ! Abnormal anatomic location of the heart

[Term]
id: HP:0001653
name: Mitral regurgitation
def: "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
synonym: "Mitral incompetence" EXACT []
synonym: "Mitral insufficiency" EXACT []
synonym: "Mitral regurgitation, mild" RELATED []
synonym: "Mitral valve insufficiency" EXACT []
synonym: "Mitral valve regurgitation" EXACT []
xref: Fyler:1151
xref: MSH:D008944
xref: SNOMEDCT_US:48724000
xref: UMLS:C0026266
xref: UMLS:C3551535
is_a: HP:0031481 ! Abnormal mitral valve physiology

[Term]
id: HP:0001654
name: Abnormal heart valve morphology
alt_id: HP:0001703
def: "Any structural abnormality of a cardiac valve." [HPO:probinson]
synonym: "Abnormality of the heart valves" EXACT []
synonym: "Valvular abnormality" EXACT []
synonym: "Valvular heart disease" RELATED []
xref: MSH:D006349
xref: SNOMEDCT_US:368009
xref: UMLS:C0018824
xref: UMLS:C0241654
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001655
name: Patent foramen ovale
def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [DDD:dbrown, HPO:probinson]
comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut.
xref: Fyler:2020
xref: ICD-10:Q21.1
xref: MSH:D054092
xref: SNOMEDCT_US:204317008
xref: UMLS:C0016522
is_a: HP:0001631 ! Atrial septal defect

[Term]
id: HP:0001657
name: Prolonged QT interval
def: "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson]
comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles.
synonym: "Long Q-T syndrome" RELATED []
synonym: "Long QT syndrome" EXACT []
synonym: "Prolong qt interval on ekg" EXACT []
xref: SNOMEDCT_US:111975006
xref: UMLS:C0151878
is_a: HP:0031547 ! Abnormal QT interval

[Term]
id: HP:0001658
name: Myocardial infarction
def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [HPO:probinson]
synonym: "Heart attack" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "MI" EXACT HP:0045077 []
xref: MSH:D009203
xref: SNOMEDCT_US:22298006
xref: UMLS:C0027051
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0001659
name: Aortic regurgitation
def: "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:probinson]
synonym: "Aortic insufficiency" EXACT []
synonym: "Aortic valve regurgitation" EXACT []
xref: MSH:D001022
xref: SNOMEDCT_US:60234000
xref: UMLS:C0003504
is_a: HP:0031652 ! Abnormal aortic valve physiology

[Term]
id: HP:0001660
name: Truncus arteriosus
def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [DDD:dbrown, HPO:probinson]
synonym: "Common arterial trunk" EXACT []
synonym: "Persistant truncus arteriosus" RELATED []
xref: Fyler:0500
xref: Fyler:500
xref: ICD-10:Q20.0
xref: MSH:D014338
xref: SNOMEDCT_US:58140002
xref: UMLS:C0041206
xref: UMLS:C4020867
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0001662
name: Bradycardia
def: "A slower than normal heart rate (in adults, slower than 60 beats per minute)." [HPO:probinson]
synonym: "Brachycardia" EXACT []
synonym: "Slow heartbeats" EXACT layperson []
xref: MSH:D001919
xref: SNOMEDCT_US:48867003
xref: UMLS:C0428977
is_a: HP:0011675 ! Arrhythmia

[Term]
id: HP:0001663
name: Ventricular fibrillation
alt_id: HP:0005166
def: "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations." [HPO:probinson]
xref: MSH:D014693
xref: SNOMEDCT_US:71908006
xref: UMLS:C0042510
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0001664
name: Torsade de pointes
def: "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [HPO:probinson]
synonym: "Torsades de pointes" EXACT []
xref: MSH:D016171
xref: SNOMEDCT_US:31722008
xref: UMLS:C0040479
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0001667
name: Right ventricular hypertrophy
def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [HPO:probinson]
synonym: "Heart right ventricle hypertrophy" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:3609
xref: MSH:D017380
xref: SNOMEDCT_US:89792004
xref: UMLS:C0162770
is_a: HP:0001707 ! Abnormal right ventricle morphology
is_a: HP:0001714 ! Ventricular hypertrophy

[Term]
id: HP:0001669
name: Transposition of the great arteries
def: "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, HPO:probinson, pmid:10798431]
synonym: "Transposition of great vessels" EXACT []
xref: SNOMEDCT_US:204296002
xref: SNOMEDCT_US:26146002
xref: UMLS:C3536741
is_a: HP:0011563 ! Abnormal ventriculoarterial connection
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0001670
name: Asymmetric septal hypertrophy
def: "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray." [HPO:probinson, pmid:17916581]
xref: UMLS:C0205700
is_a: HP:0001639 ! Hypertrophic cardiomyopathy

[Term]
id: HP:0001671
name: Abnormal cardiac septum morphology
alt_id: HP:0001690
alt_id: HP:0004760
def: "An anomaly of the intra-atrial or intraventricular septum." [HPO:probinson]
synonym: "Abnormality of the cardiac septa" EXACT []
synonym: "Heart septal defect" EXACT []
synonym: "Septal defects" EXACT HP:0045078 []
xref: MSH:D006343
xref: SNOMEDCT_US:253273004
xref: SNOMEDCT_US:396351009
xref: SNOMEDCT_US:59494005
xref: UMLS:C0018816
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001673
name: obsolete Tachycardia (with pheochromocytoma)
is_obsolete: true
replaced_by: HP:0001649

[Term]
id: HP:0001674
name: Complete atrioventricular canal defect
alt_id: HP:0001689
alt_id: HP:0006697
def: "A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect." [DDD:dbrown, HPO:probinson, pmid:16722604]
comment: The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve.
synonym: "Atrioventricular canal" EXACT []
synonym: "Common atrioventricular canal" EXACT []
synonym: "Complete atrioventricular septal defect" EXACT []
synonym: "Complete common AV canal" EXACT []
xref: Fyler:1120
xref: MSH:C562831
xref: SNOMEDCT_US:253414002
xref: UMLS:C1389018
is_a: HP:0006695 ! Atrioventricular canal defect

[Term]
id: HP:0001675
name: obsolete Rhythm disturbances associated with pheochromocytoma
is_obsolete: true
replaced_by: HP:0011675

[Term]
id: HP:0001676
name: obsolete Palpitations (with pheochromocytoma)
is_obsolete: true
replaced_by: HP:0001962

[Term]
id: HP:0001677
name: Coronary artery atherosclerosis
alt_id: HP:0004929
alt_id: HP:0005138
def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia." [HPO:probinson]
comment: Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction.
synonym: "Coronary atherosclerosis" EXACT []
synonym: "Coronary disease" EXACT []
synonym: "Plaque build-up in arteries supplying blood to heart" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D003324
xref: SNOMEDCT_US:414024009
xref: SNOMEDCT_US:53741008
xref: UMLS:C1956346
is_a: HP:0002621 ! Atherosclerosis
is_a: HP:0006704 ! Abnormal coronary artery morphology
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0001678
name: Atrioventricular block
alt_id: HP:0001668
alt_id: HP:0005142
alt_id: HP:0006672
def: "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles." [HPO:probinson]
synonym: "Atrioventricular nodal disease" RELATED []
synonym: "Interruption of electrical communication between upper and lower chambers of heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D054537
xref: SNOMEDCT_US:233917008
xref: UMLS:C0004245
xref: UMLS:C1841659
is_a: HP:0005150 ! Abnormal atrioventricular conduction
is_a: HP:0012722 ! Heart block

[Term]
id: HP:0001679
name: Abnormal aortic morphology
alt_id: HP:0030963
def: "An abnormality of the aorta." [HPO:probinson, PMID:24910511]
synonym: "Abnormal aorta morphology" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the aorta" EXACT []
xref: Fyler:1453
xref: UMLS:C4025756
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:0030962 ! Abnormal morphology of the great vessels

[Term]
id: HP:0001680
name: Coarctation of aorta
def: "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta." [HPO:probinson, PMID:23909637]
comment: Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient.
synonym: "Aortic coarctation" EXACT []
synonym: "Coarctation of the aorta" EXACT []
synonym: "Narrowing of aorta" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Narrowing of the aorta" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D001017
xref: SNOMEDCT_US:7305005
xref: UMLS:C0003492
is_a: HP:0001679 ! Abnormal aortic morphology

[Term]
id: HP:0001681
name: Angina pectoris
def: "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia." [HPO:probinson]
xref: MSH:D000787
xref: SNOMEDCT_US:194828000
xref: SNOMEDCT_US:225566008
xref: UMLS:C0002962
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0001682
name: Subvalvular aortic stenosis
def: "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve." [HPO:probinson]
comment: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta.
synonym: "Narrowing of blood vessel below aortic heart valve" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Subaortic stenosis" EXACT []
xref: MSH:D001020
xref: SNOMEDCT_US:204368006
xref: UMLS:C0340375
is_a: HP:0011103 ! Abnormal left ventricular outflow tract morphology

[Term]
id: HP:0001683
name: Ectopia cordis
def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall." [DDD:dbrown]
comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%).
xref: Fyler:0170
xref: Fyler:170
xref: MSH:D054083
xref: SNOMEDCT_US:78250005
xref: UMLS:C0013580
is_a: HP:0004307 ! Abnormal anatomic location of the heart

[Term]
id: HP:0001684
name: Secundum atrial septal defect
alt_id: HP:0200131
def: "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum." [DDD:dbrown, HPO:probinson]
synonym: "Atrial septal defect, ostium secundum type" EXACT [HPO:skoehler]
synonym: "Ostium secundum atrial septal defect" EXACT []
synonym: "Patent ostium secundum" EXACT []
xref: Fyler:2000
xref: ICD-10:Q21.1
xref: MSH:D006344
xref: SNOMEDCT_US:204315000
xref: UMLS:C0344724
is_a: HP:0001631 ! Atrial septal defect

[Term]
id: HP:0001685
name: Myocardial fibrosis
def: "Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts." [PMID:28157267]
comment: Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure.
xref: UMLS:C0151654
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0001686
name: Loss of voice
synonym: "Aphonia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: MSH:D001044
xref: SNOMEDCT_US:441913003
xref: SNOMEDCT_US:44564008
xref: UMLS:C0003564
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0001688
name: Sinus bradycardia
alt_id: HP:0005137
def: "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute." [HPO:probinson]
xref: Fyler:7013
xref: SNOMEDCT_US:49710005
xref: UMLS:C0085610
is_a: HP:0001662 ! Bradycardia
is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin

[Term]
id: HP:0001691
name: Muscular subvalvular aortic stenosis
def: "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract." [HPO:probinson]
synonym: "Muscular subaortic stenosis" EXACT []
xref: UMLS:C3887554
is_a: HP:0001682 ! Subvalvular aortic stenosis

[Term]
id: HP:0001692
name: Atrial arrhythmia
def: "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance." [DDD:dbrown]
synonym: "Primary atrial arrhythmia" RELATED []
xref: SNOMEDCT_US:17366009
xref: UMLS:C0085611
xref: UMLS:C4025755
is_a: HP:0005115 ! Supraventricular arrhythmia

[Term]
id: HP:0001693
name: Cardiac shunt
def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system." [HPO:probinson]
xref: SNOMEDCT_US:442119001
xref: UMLS:C0232180
is_a: HP:0011028 ! Abnormality of blood circulation

[Term]
id: HP:0001694
name: Right-to-left shunt
def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left." [HPO:mhaendel]
xref: SNOMEDCT_US:79692001
xref: UMLS:C0428871
is_a: HP:0001693 ! Cardiac shunt

[Term]
id: HP:0001695
name: Cardiac arrest
def: "An abrupt loss of heart function." []
synonym: "Heart stops beating" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D006323
xref: SNOMEDCT_US:397829000
xref: SNOMEDCT_US:410429000
xref: UMLS:C0018790
is_a: HP:0011675 ! Arrhythmia

[Term]
id: HP:0001696
name: Situs inversus totalis
def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [DDD:dbrown, HPO:probinson]
synonym: "All organs on wrong side of body" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Situs inversus" RELATED []
synonym: "situs oppositus" EXACT []
synonym: "situs transversus" EXACT []
xref: Fyler:0100
xref: Fyler:100
xref: MSH:D012857
xref: MSH:D059446
xref: SNOMEDCT_US:14821001
xref: SNOMEDCT_US:24614000
xref: SNOMEDCT_US:27317008
xref: SNOMEDCT_US:43876007
xref: UMLS:C0037221
xref: UMLS:C0266642
is_a: HP:0001651 ! Dextrocardia
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments

[Term]
id: HP:0001697
name: Abnormal pericardium morphology
def: "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." [HPO:probinson]
synonym: "Abnormality of the pericardium" EXACT []
xref: Fyler:1900
xref: UMLS:C4025754
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001698
name: Pericardial effusion
def: "Accumulation of fluid within the pericardium." [HPO:probinson]
synonym: "Fluid around heart" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Pericardial effusions" EXACT []
xref: Fyler:1940
xref: MSH:D010490
xref: SNOMEDCT_US:373945007
xref: UMLS:C0031039
is_a: HP:0001697 ! Abnormal pericardium morphology

[Term]
id: HP:0001699
name: Sudden death
def: "Rapid and unexpected death." [HPO:probinson]
xref: MSH:D003645
xref: SNOMEDCT_US:26636000
xref: UMLS:C0011071
is_a: HP:0011420 ! Age of death

[Term]
id: HP:0001700
name: Myocardial necrosis
def: "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction)." [PMID:20405318]
xref: SNOMEDCT_US:251061000
xref: UMLS:C1442837
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0001701
name: Pericarditis
def: "Inflammation of the sac-like covering around the heart (pericardium)." [HPO:probinson]
synonym: "Swelling or irritation of membrane around heart" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D010493
xref: SNOMEDCT_US:3238004
xref: UMLS:C0031046
is_a: HP:0001697 ! Abnormal pericardium morphology
is_a: HP:0045073 ! Serositis

[Term]
id: HP:0001702
name: Abnormal tricuspid valve morphology
alt_id: HP:0031440
def: "Any structural anomaly of the tricuspid valve." [HPO:probinson]
synonym: "Abnormality of the tricuspid valve" EXACT []
xref: EPCC:06.01.00
xref: UMLS:C4025753
is_a: HP:0006705 ! Abnormal atrioventricular valve morphology

[Term]
id: HP:0001704
name: Tricuspid valve prolapse
def: "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [HPO:probinson]
xref: Fyler:1733
xref: MSH:D014263
xref: SNOMEDCT_US:253383003
xref: UMLS:C0040962
is_a: HP:0001702 ! Abnormal tricuspid valve morphology

[Term]
id: HP:0001705
name: Right ventricular outlet tract obstruction
def: "An obstruction to the forward flow of blood in the outflow tract of the right ventricle." [PMID:30038501]
synonym: "Right ventricular outlet obstruction" EXACT []
xref: MSH:D014694
xref: UMLS:C0035619
is_a: HP:0030872 ! Abnormal cardiac ventricular function

[Term]
id: HP:0001706
name: Endocardial fibroelastosis
def: "Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction" [PMID:23109776]
xref: MSH:D004695
xref: SNOMEDCT_US:65457005
xref: UMLS:C0014117
is_a: HP:0004306 ! Abnormal endocardium morphology

[Term]
id: HP:0001707
name: Abnormal right ventricle morphology
def: "An abnormality of the right ventricle of the heart." [HPO:probinson]
comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery.
synonym: "Abnormality of the right ventricle" EXACT []
synonym: "Right ventricular abnormality" EXACT []
xref: Fyler:1820
xref: SNOMEDCT_US:253516002
xref: UMLS:C0344887
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0001708
name: Right ventricular failure
def: "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly." [HPO:probinson]
synonym: "Impaired right ventricular function" EXACT []
synonym: "Right ventricular impairment" EXACT []
synonym: "Right-sided heart failure" EXACT []
xref: MSH:D006333
xref: SNOMEDCT_US:128404006
xref: SNOMEDCT_US:367363000
xref: UMLS:C0235527
xref: UMLS:C2939447
is_a: HP:0030872 ! Abnormal cardiac ventricular function

[Term]
id: HP:0001709
name: Third degree atrioventricular block
def: "Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them." [PMID:21841933]
synonym: "Complete heart block" EXACT layperson []
synonym: "Third-degree heart block" RELATED []
xref: SNOMEDCT_US:27885002
xref: UMLS:C0151517
is_a: HP:0001678 ! Atrioventricular block

[Term]
id: HP:0001710
name: Conotruncal defect
def: "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." [HPO:probinson]
synonym: "Conotruncal heart defects" EXACT []
xref: UMLS:C1853238
is_a: HP:0011563 ! Abnormal ventriculoarterial connection
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0001711
name: Abnormal left ventricle morphology
def: "Any structural abnormality of the left ventricle of the heart." [HPO:probinson]
synonym: "Abnormal heart left ventricle morphology" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the left ventricle" EXACT []
synonym: "Left ventricular abnormality" EXACT []
xref: Fyler:1810
xref: SNOMEDCT_US:253535002
xref: UMLS:C0344905
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0001712
name: Left ventricular hypertrophy
alt_id: HP:0005171
def: "Enlargement or increased size of the heart left ventricle." [MP:0002625]
synonym: "Heart left ventricle hypertrophy" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Left ventricular wall hypertrophy" EXACT []
xref: Fyler:3608
xref: MSH:D017379
xref: SNOMEDCT_US:55827005
xref: UMLS:C0149721
is_a: HP:0001711 ! Abnormal left ventricle morphology
is_a: HP:0001714 ! Ventricular hypertrophy

[Term]
id: HP:0001713
name: Abnormal cardiac ventricle morphology
def: "An abnormality of a cardiac ventricle." [HPO:probinson]
synonym: "Abnormality of cardiac ventricle" EXACT []
xref: UMLS:C4025752
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001714
name: Ventricular hypertrophy
alt_id: HP:0005167
def: "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy." [HPO:probinson]
xref: SNOMEDCT_US:266249003
xref: UMLS:C0340279
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0001716
name: Wolff-Parkinson-White syndrome
def: "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway." [HPO:probinson]
xref: MSH:D014927
xref: SNOMEDCT_US:74390002
xref: UMLS:C0043202
is_a: HP:0004309 ! Ventricular preexcitation

[Term]
id: HP:0001717
name: Coronary artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery." [HPO:probinson]
xref: SNOMEDCT_US:445512009
xref: UMLS:C1611184
is_a: HP:0003207 ! Arterial calcification
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0001718
name: Mitral stenosis
alt_id: HP:0005163
def: "An abnormal narrowing of the orifice of the mitral valve." [DDD:dbrown]
synonym: "Mitral valve stenosis" EXACT []
xref: EPCC:06.02.92
xref: Fyler:1511
xref: ICD-10:Q23.2
xref: MSH:D008946
xref: SNOMEDCT_US:79619009
xref: UMLS:C0026269
is_a: HP:0031481 ! Abnormal mitral valve physiology

[Term]
id: HP:0001719
name: Double outlet right ventricle
def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [HPO:probinson, pmid:10798433]
comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD.
synonym: "DORV" EXACT HP:0045077 []
synonym: "Double-outlet right ventricle" EXACT []
xref: Fyler:600
xref: Fyler:606
xref: MSH:D004310
xref: SNOMEDCT_US:7484005
xref: UMLS:C0013069
is_a: HP:0001710 ! Conotruncal defect
is_a: HP:0011723 ! Congenital malformation of the right heart

[Term]
id: HP:0001722
name: High-output congestive heart failure
def: "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others." [HPO:curators]
xref: UMLS:C0742747
is_a: HP:0001635 ! Congestive heart failure

[Term]
id: HP:0001723
name: Restrictive cardiomyopathy
alt_id: HP:0005130
def: "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness." [HPO:probinson, pmid:17916581]
comment: Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM.
xref: MSH:D002313
xref: SNOMEDCT_US:415295002
xref: SNOMEDCT_US:90828009
xref: UMLS:C0007196
is_a: HP:0001638 ! Cardiomyopathy

[Term]
id: HP:0001724
name: obsolete Aortic dilatation
is_obsolete: true
replaced_by: HP:0004942

[Term]
id: HP:0001726
name: obsolete Increased prevalence of valvular disease
is_obsolete: true
consider: HP:0001654

[Term]
id: HP:0001727
name: Thromboembolic stroke
def: "A cerebrovascular accident (stroke) that occurs because of thromboembolism." [HPO:probinson]
xref: UMLS:C1112433
is_a: HP:0001907 ! Thromboembolism

[Term]
id: HP:0001730
name: Progressive hearing impairment
alt_id: HP:0008590
def: "A progressive form of hearing impairment." [HPO:probinson]
synonym: "Progressive hearing loss" EXACT []
xref: UMLS:C1842138
is_a: HP:0000365 ! Hearing impairment

[Term]
id: HP:0001732
name: Abnormality of the pancreas
def: "An abnormality of the pancreas." [HPO:probinson]
synonym: "Abnormality of the pancreas" EXACT layperson []
synonym: "Pancreatic disease" RELATED layperson []
xref: MSH:D010182
xref: SNOMEDCT_US:3855007
xref: UMLS:C0030286
xref: UMLS:C4025751
is_a: HP:0002012 ! Abnormality of the abdominal organs

[Term]
id: HP:0001733
name: Pancreatitis
def: "The presence of inflammation in the pancreas." [HPO:probinson]
synonym: "Pancreatic inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010195
xref: SNOMEDCT_US:75694006
xref: UMLS:C0030305
is_a: HP:0012091 ! Abnormality of pancreas physiology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0001734
name: Annular pancreas
def: "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum." [HPO:probinson]
xref: MSH:C536376
xref: SNOMEDCT_US:40315008
xref: UMLS:C0149955
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0001735
name: Acute pancreatitis
alt_id: HP:0004512
def: "A acute form of pancreatitis." [HPO:probinson]
synonym: "Acute pancreatic inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Pancreatitis, acute" EXACT []
xref: SNOMEDCT_US:197456007
xref: UMLS:C0001339
is_a: HP:0001733 ! Pancreatitis

[Term]
id: HP:0001737
name: Pancreatic cysts
def: "A cyst of the pancreas that possess a lining of mucous epithelium." [HPO:probinson]
comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium.
synonym: "Multiple pancreatic cysts" RELATED layperson []
synonym: "Pancreatic cyst" RELATED layperson []
synonym: "Pancreatic cysts" EXACT layperson []
xref: MSH:D010181
xref: SNOMEDCT_US:31258000
xref: UMLS:C0030283
xref: UMLS:C1860394
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0001738
name: Exocrine pancreatic insufficiency
alt_id: HP:0002581
alt_id: HP:0004508
alt_id: HP:0004509
def: "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [HPO:probinson]
synonym: "Inability to properly digest food due to lack of pancreatic digestive enzymes" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Pancreatic insufficiency" RELATED []
xref: MSH:D010188
xref: SNOMEDCT_US:37992001
xref: SNOMEDCT_US:47367009
xref: UMLS:C0030293
xref: UMLS:C0267963
is_a: HP:0012092 ! Abnormality of exocrine pancreas physiology

[Term]
id: HP:0001739
name: Abnormality of the nasopharynx
comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate.
xref: UMLS:C4025750
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0000600 ! Abnormality of the pharynx

[Term]
id: HP:0001741
name: Phimosis
def: "The male foreskin cannot be fully retracted from the head of the penis." [HPO:sdoelken]
xref: SNOMEDCT_US:253854008
xref: UMLS:C0345326
is_a: HP:0100587 ! Abnormality of the preputium

[Term]
id: HP:0001742
name: Nasal obstruction
def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [HPO:probinson]
synonym: "Blockage of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Congestion of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal blockage" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal congestion" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal obstruction" EXACT layperson []
synonym: "Obstruction of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Stuffy nose" EXACT layperson [http://www.entnet.org/content/stuffy-nose]
xref: MSH:D015508
xref: SNOMEDCT_US:232209000
xref: SNOMEDCT_US:267100006
xref: SNOMEDCT_US:68235000
xref: UMLS:C0027424
xref: UMLS:C0027429
is_a: HP:0000366 ! Abnormality of the nose

[Term]
id: HP:0001743
name: Abnormality of the spleen
def: "An abnormality of the spleen." [HPO:probinson]
comment: The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system.
synonym: "Abnormality of the spleen" EXACT layperson []
xref: UMLS:C4025749
is_a: HP:0002012 ! Abnormality of the abdominal organs
is_a: HP:0100763 ! Abnormality of the lymphatic system

[Term]
id: HP:0001744
name: Splenomegaly
alt_id: HP:0001745
alt_id: HP:0006269
def: "Abnormal increased size of the spleen." [HPO:probinson]
synonym: "Increased spleen size" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D013163
xref: SNOMEDCT_US:16294009
xref: UMLS:C0038002
is_a: HP:0003271 ! Visceromegaly
is_a: HP:0025408 ! Abnormal spleen morphology

[Term]
id: HP:0001746
name: Asplenia
def: "Absence (aplasia) of the spleen." [HPO:curators]
synonym: "Absent spleen" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:4771
xref: SNOMEDCT_US:702624008
xref: SNOMEDCT_US:707147002
xref: SNOMEDCT_US:93030006
xref: UMLS:C0600031
is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen

[Term]
id: HP:0001747
name: Accessory spleen
def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:probinson]
xref: Fyler:4772
xref: SNOMEDCT_US:10362008
xref: UMLS:C0266631
is_a: HP:0009799 ! Supernumerary spleens

[Term]
id: HP:0001748
name: Polysplenia
alt_id: HP:0001749
alt_id: HP:0006271
alt_id: HP:0006272
def: "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators]
synonym: "Accessory spleens" EXACT []
synonym: "Multiple accessory spleens" EXACT []
synonym: "Multiple small spleens" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1856659
is_a: HP:0009799 ! Supernumerary spleens

[Term]
id: HP:0001750
name: Single ventricle
def: "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle." [MP:0010432]
synonym: "Common ventricle" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:0200
xref: Fyler:200
xref: SNOMEDCT_US:45503006
xref: UMLS:C0152424
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0001751
name: Vestibular dysfunction
alt_id: HP:0006917
alt_id: HP:0007921
def: "An abnormality of the functioning of the vestibular apparatus." [HPO:probinson]
comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body.
synonym: "Impaired vestibular function" EXACT []
synonym: "Interictal vestibular dysfunction" EXACT []
synonym: "Vestibular function defect" EXACT []
xref: UMLS:C1843865
is_a: HP:0011389 ! Functional abnormality of the inner ear

[Term]
id: HP:0001756
name: Vestibular hypofunction
def: "Reduced functioning of the vestibular apparatus." [HPO:probinson]
xref: UMLS:C1848606
is_a: HP:0001751 ! Vestibular dysfunction

[Term]
id: HP:0001757
name: High-frequency sensorineural hearing impairment
def: "A form of sensorineural hearing impairment that affects primarily the higher frequencies." [HPO:probinson]
synonym: "High frequency sensorineural hearing impairment" EXACT []
synonym: "High-tone sensorineural deafness" EXACT []
synonym: "High-tone sensorineural hearing impairment" EXACT []
xref: UMLS:C4021775
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0001760
name: Abnormality of the foot
alt_id: HP:0010216
alt_id: HP:0010611
def: "An abnormality of the skeleton of foot." [HPO:probinson]
comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others.
synonym: "Abnormal feet morphology" EXACT layperson []
synonym: "Abnormality of the feet" EXACT layperson []
synonym: "Abnormality of the foot" EXACT layperson []
synonym: "Foot deformities" EXACT layperson []
synonym: "Foot deformity" EXACT layperson []
xref: MSH:D005530
xref: SNOMEDCT_US:229844004
xref: UMLS:C0016506
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0001761
name: Pes cavus
def: "The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "High-arched foot" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10034743 "Pes cavus"
xref: SNOMEDCT_US:205091006
xref: UMLS:C0728829
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0001762
name: Talipes equinovarus
def: "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson]
comment: Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus.
subset: hposlim_core
synonym: "Club feet" EXACT layperson []
synonym: "Club foot" EXACT layperson []
synonym: "Clubfeet" EXACT layperson []
synonym: "Clubfoot" EXACT layperson []
synonym: "Equinovarus" EXACT []
synonym: "Foot, talipes equinovarus" EXACT []
synonym: "Pes equinovarus" EXACT []
synonym: "Pes equinus" EXACT []
synonym: "Talipes varus" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: Fyler:4171
xref: MEDDRA:10043106 "Talipes equinovarus, congenital"
xref: MSH:D003025
xref: SNOMEDCT_US:249808002
xref: SNOMEDCT_US:397932003
xref: UMLS:C0009081
is_a: HP:0001883 ! Talipes

[Term]
id: HP:0001763
name: Pes planus
def: "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [HPO:probinson, pmid:19125433]
comment: 'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal))
subset: hposlim_core
synonym: "Dropped arches" RELATED layperson []
synonym: "Fallen arches" RELATED layperson []
synonym: "Flat feet" EXACT layperson []
synonym: "Flat foot" EXACT layperson []
xref: MSH:D005413
xref: SNOMEDCT_US:203534009
xref: SNOMEDCT_US:53226007
xref: UMLS:C0016202
xref: UMLS:C0264133
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0001765
name: Hammertoe
def: "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [pmid:19125433]
subset: hposlim_core
synonym: "Hammer toe" EXACT layperson []
synonym: "Hammertoe" EXACT layperson []
synonym: "Hammertoes" EXACT layperson []
xref: MSH:D037801
xref: SNOMEDCT_US:122481008
xref: UMLS:C1136179
is_a: HP:0001780 ! Abnormality of toe

[Term]
id: HP:0001769
name: Broad foot
def: "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [pmid:19125433]
subset: hposlim_core
synonym: "Broad feet" EXACT layperson []
synonym: "Broad foot" EXACT layperson []
synonym: "Wide foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1866241
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0001770
name: Toe syndactyly
alt_id: HP:0001828
alt_id: HP:0005677
def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators]
synonym: "Foot syndactyly" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Fused toes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Syndactyly of feet" EXACT []
synonym: "Syndactyly of toes" EXACT []
synonym: "Webbed toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:32113001
xref: UMLS:C0265660
is_a: HP:0001159 ! Syndactyly
is_a: HP:0001780 ! Abnormality of toe

[Term]
id: HP:0001771
name: Achilles tendon contracture
alt_id: HP:0004711
alt_id: HP:0005031
alt_id: HP:0006430
def: "A contracture of the Achilles tendon." [HPO:probinson]
synonym: "Achilles tendon contractures" EXACT [HPO:skoehler]
synonym: "Contractures of the Achilles tendon" EXACT []
synonym: "Shortening of the achilles tendon" EXACT layperson []
synonym: "Tight achilles tendon" EXACT layperson []
xref: SNOMEDCT_US:203076007
xref: UMLS:C0410264
is_a: HP:0005109 ! Abnormality of the Achilles tendon
is_a: HP:0008366 ! Contractures involving the joints of the feet

[Term]
id: HP:0001772
name: Talipes equinovalgus
def: "A deformity of foot and ankle in which the foot is bent down and outwards." [HPO:probinson]
synonym: "Equinovalgus deformity" RELATED []
xref: MSH:D004863
xref: SNOMEDCT_US:68284008
xref: UMLS:C0265642
xref: UMLS:C4020866
is_a: HP:0001883 ! Talipes

[Term]
id: HP:0001773
name: Short foot
alt_id: HP:0001764
alt_id: HP:0001766
alt_id: HP:0001778
alt_id: HP:0008135
def: "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [HPO:probinson, pmid:19125433]
synonym: "Hypoplastic feet" EXACT []
synonym: "Short feet" EXACT layperson []
synonym: "Short foot" EXACT layperson []
synonym: "Small feet" EXACT layperson []
xref: UMLS:C1848673
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet

[Term]
id: HP:0001775
name: Tarsal osteovalgus
xref: UMLS:C4025748
is_a: HP:0008365 ! Abnormality of the talus

[Term]
id: HP:0001776
name: Bilateral talipes equinovarus
def: "Bilateral clubfoot deformity (see HP:0001762)." [HPO:probinson]
synonym: "Bilateral clubfeet" EXACT []
synonym: "Bilateral clubfoot" EXACT []
synonym: "Club foot on both sides" EXACT layperson []
xref: UMLS:C1837835
is_a: HP:0001762 ! Talipes equinovarus

[Term]
id: HP:0001780
name: Abnormality of toe
def: "An anomaly of a toe." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormalities of the toes" EXACT layperson []
synonym: "Abnormality of toe" EXACT layperson []
xref: UMLS:C2674738
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0001782
name: Bulbous tips of toes
def: "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous." [HPO:probinson]
xref: UMLS:C4025747
is_a: HP:0001780 ! Abnormality of toe

[Term]
id: HP:0001783
name: Broad metatarsal
alt_id: HP:0005907
alt_id: HP:0008106
def: "Increased side-to-side width of a metatarsal bone." [HPO:probinson]
synonym: "Broad metatarsals" RELATED []
synonym: "Wide long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Widened metatarsal shaft" RELATED []
xref: UMLS:C1842231
xref: UMLS:C1850161
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0001785
name: Ankle swelling
synonym: "Ankle swelling" EXACT layperson []
xref: SNOMEDCT_US:26237000
xref: SNOMEDCT_US:267039000
xref: UMLS:C0235439
is_a: HP:0003028 ! Abnormality of the ankles

[Term]
id: HP:0001786
name: Narrow foot
def: "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length." [pmid:19125433]
subset: hposlim_core
synonym: "Narrow foot" EXACT layperson []
synonym: "Slender feet" EXACT layperson []
xref: SNOMEDCT_US:299464006
xref: UMLS:C0576227
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0001787
name: Abnormal delivery
def: "An abnormality of the birth process." [HPO:probinson]
synonym: "Abnormal delivery" EXACT layperson []
synonym: "Delivery complication" EXACT layperson []
xref: SNOMEDCT_US:274127000
xref: UMLS:C0549629
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001788
name: Premature rupture of membranes
alt_id: HP:0002163
def: "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [HPO:probinson]
xref: MSH:D005322
xref: SNOMEDCT_US:237266003
xref: SNOMEDCT_US:44223004
xref: UMLS:C0015944
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0001789
name: Hydrops fetalis
def: "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [HPO:probinson]
comment: The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms.
xref: MSH:D015160
xref: SNOMEDCT_US:276508000
xref: UMLS:C0020305
is_a: HP:0000969 ! Edema
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0001790
name: Nonimmune hydrops fetalis
def: "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ." [HPO:probinson]
synonym: "Hydrops fetalis, non-immune" EXACT []
synonym: "Hydrops fetalis, nonimmune" EXACT []
synonym: "Non-immune fetal hydrops" EXACT []
synonym: "Nonimmune hydrops" EXACT []
xref: MSH:D015160
xref: SNOMEDCT_US:206538000
xref: SNOMEDCT_US:276509008
xref: UMLS:C0455988
is_a: HP:0001789 ! Hydrops fetalis

[Term]
id: HP:0001791
name: Fetal ascites
def: "Accumulation of fluid in the peritoneal cavity during the fetal period." [HPO:probinson]
xref: SNOMEDCT_US:363125002
xref: UMLS:C1285291
is_a: HP:0001197 ! Abnormality of prenatal development or birth
is_a: HP:0001541 ! Ascites

[Term]
id: HP:0001792
name: Small nail
alt_id: HP:0001813
def: "A nail that is diminished in length and width, i.e., underdeveloped nail." [HPO:probinson, pmid:19125433]
synonym: "Hypoplastic nail" EXACT []
synonym: "Hypoplastic nails" EXACT []
synonym: "Nail hypoplasia" EXACT []
synonym: "Small nail" EXACT layperson []
synonym: "Small nails" EXACT layperson []
xref: SNOMEDCT_US:11375002
xref: UMLS:C0263523
is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails

[Term]
id: HP:0001795
name: Hyperconvex nail
alt_id: HP:0008413
def: "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity." [HPO:probinson, pmid:19125433]
comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified.
subset: hposlim_core
synonym: "Increased nail curvature" EXACT layperson []
synonym: "Nail overcurvature" EXACT layperson []
xref: SNOMEDCT_US:247487009
xref: UMLS:C0423807
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001798
name: Anonychia
alt_id: HP:0007593
alt_id: HP:0008384
def: "Aplasia of the nail." [HPO:probinson]
comment: Total absence of nails.
subset: hposlim_core
synonym: "Absent nails" EXACT layperson []
synonym: "Aplastic nails" EXACT layperson []
xref: MSH:C536377
xref: SNOMEDCT_US:23610003
xref: UMLS:C0265998
is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails

[Term]
id: HP:0001799
name: Short nail
alt_id: HP:0200075
def: "Decreased length of nail." [pmid:19125433]
comment: Use this designation when the length is reduced but the width is normal.
subset: hposlim_core
synonym: "Short nail" EXACT layperson []
synonym: "Short nails" EXACT layperson [HPO:skoehler]
xref: SNOMEDCT_US:247488004
xref: UMLS:C0423808
is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails

[Term]
id: HP:0001800
name: Hypoplastic toenails
def: "Underdevelopment of the toenail." [HPO:probinson]
synonym: "Underdeveloped toenails" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1837279
is_a: HP:0001792 ! Small nail
is_a: HP:0010624 ! Aplastic/hypoplastic toenail

[Term]
id: HP:0001802
name: Absent toenail
def: "Congenital absence of the toenail." [HPO:probinson]
subset: hposlim_core
synonym: "Absent toenail" EXACT layperson []
synonym: "Absent toenails" RELATED layperson []
synonym: "Absent toenails (anonychia)" RELATED [HPO:skoehler]
synonym: "Anonychia of toenails" RELATED [HPO:skoehler]
xref: UMLS:C1844555
is_a: HP:0001798 ! Anonychia
is_a: HP:0010624 ! Aplastic/hypoplastic toenail

[Term]
id: HP:0001803
name: Nail pits
def: "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." [pmid:19125433]
subset: secondary_consequence
synonym: "Nail pits" EXACT layperson []
synonym: "Nail pitting" EXACT layperson []
synonym: "Pitted nails" EXACT layperson []
xref: MEDDRA:10028702 "Nail pitting"
xref: SNOMEDCT_US:89704006
xref: UMLS:C0150993
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001804
name: Hypoplastic fingernail
def: "Underdevelopment of a fingernail." [HPO:curators]
synonym: "Small fingernail" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped fingernail" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856786
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0001792 ! Small nail

[Term]
id: HP:0001805
name: Onychogryposis
alt_id: HP:0001819
alt_id: HP:0200088
def: "Nail that appears thick when viewed on end." [pmid:19125433]
comment: There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity.
synonym: "Dystrophic thickened nails" EXACT []
synonym: "Thick nail" EXACT layperson []
synonym: "Thickened nails" EXACT layperson []
xref: SNOMEDCT_US:52897009
xref: UMLS:C0263537
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0001806
name: Onycholysis
def: "Detachment of the nail from the nail bed." [HPO:probinson]
subset: hposlim_core
synonym: "Detachment of nail" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Oncholysis" EXACT []
xref: MEDDRA:10030337 "Onycholysis"
xref: MSH:D054039
xref: SNOMEDCT_US:75789001
xref: UMLS:C0085661
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0001807
name: Ridged nail
alt_id: HP:0001801
alt_id: HP:0001811
def: "Longitudinal, linear prominences in the nail plate." [pmid:19125433]
comment: There may be only one, or several ridges. The affected digits should be specified.
subset: hposlim_core
synonym: "Grooved nails" EXACT layperson []
synonym: "Longitudinal ridging" EXACT []
synonym: "Nail ridging" EXACT layperson []
synonym: "Ridged nails" RELATED layperson [HPO:skoehler]
xref: SNOMEDCT_US:271768001
xref: UMLS:C0423820
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001808
name: Fragile nails
alt_id: HP:0001796
def: "Nails that easily break." [HPO:probinson]
synonym: "Brittle nails" EXACT layperson []
xref: UMLS:C1856963
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0001809
name: Split nail
def: "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature." [pmid:19125433]
comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments.
synonym: "Longitudinal splitting of nail" EXACT layperson []
xref: SNOMEDCT_US:85136002
xref: UMLS:C0263530
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001810
name: Dystrophic toenail
alt_id: HP:0007558
def: "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate." [HPO:probinson]
synonym: "Dystrophic toenail changes" EXACT []
synonym: "Dystrophic toenails" RELATED []
synonym: "Poor toenail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432]
xref: UMLS:C1833225
is_a: HP:0008388 ! Abnormal toenail morphology
is_a: HP:0008404 ! Nail dystrophy

[Term]
id: HP:0001812
name: Hyperconvex fingernails
alt_id: HP:0008380
def: "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity." [HPO:probinson, pmid:19125433]
synonym: "Tubular fingernails" EXACT []
xref: UMLS:C1844825
is_a: HP:0001795 ! Hyperconvex nail

[Term]
id: HP:0001814
name: Deep-set nails
def: "Deeply placed nails." [HPO:probinson]
synonym: "Deep-set nails" EXACT layperson []
xref: UMLS:C3277753
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001816
name: Thin nail
def: "Nail that appears thin when viewed on end." [HPO:probinson, pmid:19125433]
comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified.
subset: hposlim_core
synonym: "Thin nail" EXACT layperson []
synonym: "Thin nails" EXACT layperson []
xref: SNOMEDCT_US:63829008
xref: UMLS:C0423823
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0001817
name: Absent fingernail
def: "Absence of a fingernail." [HPO:probinson]
subset: hposlim_core
synonym: "Absent fingernail" EXACT layperson []
synonym: "Anonychia of fingernails" RELATED [HPO:skoehler]
synonym: "Aplasia of the fingernail" EXACT []
xref: UMLS:C1844554
is_a: HP:0001798 ! Anonychia

[Term]
id: HP:0001818
name: Paronychia
def: "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [HPO:probinson]
subset: hposlim_core
xref: MEDDRA:10034016 "Paronychia"
xref: MSH:D010304
xref: SNOMEDCT_US:71906005
xref: UMLS:C0030578
is_a: HP:0100803 ! Abnormality of the periungual region

[Term]
id: HP:0001820
name: Leukonychia
def: "White discoloration of the nails." [HPO:probinson]
synonym: "White discoloration of nails" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MEDDRA:10050658 "Leukonychia"
xref: SNOMEDCT_US:111202002
xref: UMLS:C0240182
is_a: HP:0100643 ! Abnormality of nail color

[Term]
id: HP:0001821
name: Broad nail
alt_id: HP:0008406
def: "Increased width of nail." [HPO:probinson]
synonym: "Broad fingernails" EXACT layperson []
synonym: "Broad nail" EXACT layperson []
synonym: "Wide fingernails" EXACT layperson []
xref: UMLS:C1843112
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0001822
name: Hallux valgus
alt_id: HP:0004682
def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators]
synonym: "Bunion" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Lateral deviation of great toe" EXACT []
synonym: "Lateral deviation of halluces" EXACT []
xref: MSH:D000071378
xref: MSH:D006215
xref: SNOMEDCT_US:122480009
xref: SNOMEDCT_US:415692008
xref: UMLS:C0006386
xref: UMLS:C0018536
is_a: HP:0010051 ! Deviation of the hallux

[Term]
id: HP:0001824
name: Weight loss
def: "Reduction inexisting body weight." [HPO:probinson]
xref: MSH:D015431
xref: SNOMEDCT_US:161832001
xref: SNOMEDCT_US:262285001
xref: SNOMEDCT_US:89362005
xref: UMLS:C1262477
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0001827
name: Genital tract atresia
alt_id: HP:0001534
def: "Congenital occlusion of a tube in the genital tract." [HPO:probinson]
xref: UMLS:C4025746
is_a: HP:0012243 ! Abnormal reproductive system morphology
created_by: peter
creation_date: 2008-02-27T04:08:00Z

[Term]
id: HP:0001829
name: Foot polydactyly
alt_id: HP:0009135
def: "A kind of polydactyly characterized by the presence of a supernumerary toe or toes." [HPO:probinson]
subset: hposlim_core
synonym: "Duplication of bones of the toes" EXACT layperson []
synonym: "Polydactyly of feet" EXACT []
synonym: "Polydactyly of the foot" EXACT []
xref: SNOMEDCT_US:62218008
xref: UMLS:C0158734
is_a: HP:0001780 ! Abnormality of toe
is_a: HP:0009136 ! Duplication involving bones of the feet
is_a: HP:0010442 ! Polydactyly

[Term]
id: HP:0001830
name: Postaxial foot polydactyly
alt_id: HP:0010346
def: "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [HPO:curators]
comment: The modifier postaxial means that the supernumerary digit is not a hallux.
synonym: "Extra toe attached near the little toe" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Fibular polydactyly" RELATED []
synonym: "Polydactyly affecting the 5th toe" EXACT []
synonym: "Postaxial polydactyly of feet" EXACT []
synonym: "Postaxial polydactyly of foot" EXACT []
synonym: "Posterior polydactyly of foot" EXACT []
xref: UMLS:C2112129
xref: UMLS:C4020865
is_a: HP:0001829 ! Foot polydactyly
is_a: HP:0010322 ! Abnormality of the 5th toe
is_a: HP:0100259 ! Postaxial polydactyly

[Term]
id: HP:0001831
name: Short toe
alt_id: HP:0001767
alt_id: HP:0001781
alt_id: HP:0001855
alt_id: HP:0004701
alt_id: HP:0005889
alt_id: HP:0008099
def: "A toe that appears disproportionately short compared to the foot." [HPO:probinson]
comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly.
subset: hposlim_core
synonym: "Brachydactyly of the foot" EXACT []
synonym: "Hypoplasia of the toe" EXACT []
synonym: "Hypoplastic toes" EXACT []
synonym: "Short foot phalanges" EXACT []
synonym: "Short toe" EXACT layperson []
synonym: "Short toes" EXACT layperson []
synonym: "Stubby toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836195
is_a: HP:0001991 ! Aplasia/Hypoplasia of toe
is_a: HP:0011927 ! Short digit

[Term]
id: HP:0001832
name: Abnormal metatarsal morphology
def: "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." [HPO:probinson]
synonym: "Abnormality of the long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025745
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0040069 ! Abnormal lower limb bone morphology

[Term]
id: HP:0001833
name: Long foot
alt_id: HP:0008136
alt_id: HP:0008143
def: "Increased back to front length of the foot." [UHPO:probinson]
subset: hposlim_core
synonym: "Disproportionately large feet" EXACT layperson []
synonym: "large feet" EXACT layperson []
synonym: "long feet" EXACT layperson []
synonym: "Long foot" EXACT layperson []
xref: SNOMEDCT_US:299462005
xref: UMLS:C0576225
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0001836
name: Camptodactyly of toe
def: "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes." [HPO:probinson]
synonym: "Camptodactyly of feet" EXACT []
xref: UMLS:C4021774
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0012385 ! Camptodactyly

[Term]
id: HP:0001837
name: Broad toe
def: "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension." [pmid:19125433]
comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient.
subset: hposlim_core
synonym: "Broad toe" EXACT layperson []
synonym: "Wide toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1865038
is_a: HP:0001780 ! Abnormality of toe

[Term]
id: HP:0001838
name: Rocker bottom foot
alt_id: HP:0001835
alt_id: HP:0004693
alt_id: HP:0010218
def: "The presence of both a prominent heel and a convex contour of the sole." [HPO:probinson, pmid:19125433]
comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis.
subset: hposlim_core
synonym: "Congenital vertical talus" EXACT []
synonym: "Rocker bottom feet" EXACT layperson []
synonym: "Rocker bottom foot" EXACT layperson []
synonym: "Rocker-bottom feet" EXACT layperson []
synonym: "Rockerbottom feet" EXACT layperson []
xref: MEDDRA:10066242 "Vertical talus"
xref: MSH:C536345
xref: MSH:D005413
xref: SNOMEDCT_US:205082007
xref: SNOMEDCT_US:205359003
xref: UMLS:C0240912
is_a: HP:0008365 ! Abnormality of the talus

[Term]
id: HP:0001839
name: Split foot
alt_id: HP:0003062
alt_id: HP:0005904
def: "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet." [HPO:sdoelken]
subset: hposlim_core
synonym: "Foot ectrodactyly" EXACT []
synonym: "Lobster-claw foot deformity" EXACT layperson []
synonym: "Split foot" EXACT layperson []
synonym: "Split-foot" EXACT layperson []
xref: SNOMEDCT_US:205358006
xref: UMLS:C0432028
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0100257 ! Ectrodactyly

[Term]
id: HP:0001840
name: Metatarsus adductus
alt_id: HP:0001768
alt_id: HP:0010217
def: "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [HPO:probinson, pmid:19125433]
comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline.
subset: hposlim_core
synonym: "Forefoot varus" EXACT []
synonym: "Front half of foot turns inward" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Intoe" RELATED []
synonym: "Metatarsus adductovarsus" EXACT []
synonym: "Metatarsus varus" EXACT []
xref: MSH:D000070592
xref: SNOMEDCT_US:77599005
xref: UMLS:C0231791
xref: UMLS:C4082169
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0001841
name: Preaxial foot polydactyly
alt_id: HP:0009607
alt_id: HP:0010050
def: "Duplication of all or part of the first ray." [HPO:probinson, pmid:19125433]
comment: This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet.
synonym: "Partial/complete duplication of the phalanges of the big toe" EXACT [HPO:curators]
synonym: "Polydactyly affecting the hallux" EXACT []
synonym: "Preaxial hallucal polydactyly" EXACT []
synonym: "Preaxial polydactyly of feet" EXACT []
synonym: "Preaxial polydactyly of foot" EXACT []
synonym: "Preaxial polydactyly of the feet" EXACT [HPO:curators]
synonym: "Preaxial polydactyly, feet" EXACT []
xref: MSH:C566632
xref: UMLS:C1866339
xref: UMLS:C2112942
is_a: HP:0001829 ! Foot polydactyly
is_a: HP:0001844 ! Abnormality of the hallux
is_a: HP:0100258 ! Preaxial polydactyly

[Term]
id: HP:0001842
name: Foot acroosteolysis
synonym: "Acroosteolysis of feet" EXACT []
xref: UMLS:C4025744
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes

[Term]
id: HP:0001844
name: Abnormality of the hallux
def: "This term applies for all abnormalities of the big toe, also called hallux." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormalities of the hallux" EXACT []
synonym: "Abnormality of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021773
is_a: HP:0001780 ! Abnormality of toe

[Term]
id: HP:0001845
name: Overlapping toe
def: "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest." [HPO:probinson, pmid:19125433]
comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly.
subset: hposlim_core
synonym: "Crossover toe" RELATED layperson []
synonym: "Overlapping toe" EXACT layperson []
synonym: "Overlapping toes" EXACT layperson [HPO:skoehler]
synonym: "Overriding toes" EXACT layperson []
xref: SNOMEDCT_US:203541003
xref: UMLS:C0920299
is_a: HP:0001780 ! Abnormality of toe

[Term]
id: HP:0001847
name: Long hallux
alt_id: HP:0001867
def: "Increased length of the big toe." [HPO:probinson]
subset: hposlim_core
synonym: "Increased length of the hallux" EXACT []
synonym: "Large halluces" EXACT []
synonym: "Long big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Long halluces" EXACT []
xref: UMLS:C1864375
is_a: HP:0001844 ! Abnormality of the hallux
is_a: HP:0010511 ! Long toe

[Term]
id: HP:0001848
name: Calcaneovalgus deformity
alt_id: HP:0001774
alt_id: HP:0008120
def: "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)." [HPO:probinson]
comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth.
synonym: "Calcaneovalgus" EXACT []
synonym: "Calcaneovalgus Foot" EXACT []
synonym: "Foot and ankle bend up toward shin of leg" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Valgus position of the calcaneus" EXACT []
xref: UMLS:C1860450
is_a: HP:0008119 ! Deformed tarsal bones
is_a: HP:0008364 ! Abnormality of the calcaneus

[Term]
id: HP:0001849
name: Foot oligodactyly
alt_id: HP:0001777
def: "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:probinson]
subset: hposlim_core
synonym: "Missing toes" EXACT layperson []
synonym: "Oligodactyly of feet" EXACT []
xref: SNOMEDCT_US:249820005
xref: UMLS:C0426934
is_a: HP:0010760 ! Absent toe
is_a: HP:0012165 ! Oligodactyly

[Term]
id: HP:0001850
name: Abnormality of the tarsal bones
def: "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [HPO:curators]
synonym: "Abnormal ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal tarsals" EXACT []
xref: UMLS:C1862136
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0040069 ! Abnormal lower limb bone morphology

[Term]
id: HP:0001852
name: Sandal gap
def: "A widely spaced gap between the first toe (the great toe) and the second toe." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "Gap between 1st and 2nd toes" EXACT layperson []
synonym: "Gap between first and second toe" EXACT layperson []
synonym: "Increased space between first and second toes" EXACT layperson []
synonym: "Sandal gap between first and second toes" EXACT layperson []
synonym: "Space between great toe and second toe" EXACT []
synonym: "Wide space between 1st, 2nd toes" EXACT layperson []
synonym: "Wide space between first and second toes" EXACT layperson []
synonym: "Wide-spaced big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Widely spaced 1st-2nd toes" EXACT layperson []
synonym: "Widely spaced first and second toes" EXACT layperson []
synonym: "Widened gap 1st-2nd toes" EXACT layperson []
synonym: "Widened gap first and second toe" EXACT layperson []
xref: UMLS:C1840069
is_a: HP:0001780 ! Abnormality of toe

[Term]
id: HP:0001853
name: Bifid distal phalanx of toe
alt_id: HP:0005615
synonym: "Bifid distal phalanges of toes" EXACT []
synonym: "Bifid terminal phalanx of toe" EXACT []
synonym: "Notched outermost bones of toes" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4021772
is_a: HP:0009136 ! Duplication involving bones of the feet

[Term]
id: HP:0001854
name: Podagra
def: "Gout affecting the Metatarsophalangeal joint of big toe." [HPO:sdoelken]
synonym: "Gout of big toe" EXACT []
xref: SNOMEDCT_US:67148009
xref: UMLS:C0221168
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0001997 ! Gout

[Term]
id: HP:0001857
name: Short distal phalanx of toe
def: "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe." [pmid:19125433]
comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build.
synonym: "Hypoplastic distal phalanges of feet" EXACT []
synonym: "Short outermost bone of toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021771
is_a: HP:0005035 ! Shortening of all phalanges of the toes
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes

[Term]
id: HP:0001859
name: Distal foot symphalangism
alt_id: HP:0100236
xref: UMLS:C4025743
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0100235 ! Synostosis involving bones of the toes
is_a: HP:0100263 ! Distal symphalangism

[Term]
id: HP:0001862
name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
is_obsolete: true
replaced_by: HP:0006121

[Term]
id: HP:0001863
name: Toe clinodactyly
def: "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson]
synonym: "Clinodactyly of feet" EXACT []
synonym: "Toe curvature" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021770
xref: UMLS:C4280587
is_a: HP:0030084 ! Clinodactyly
is_a: HP:0100498 ! Deviation of toes

[Term]
id: HP:0001864
name: Clinodactyly of the 5th toe
def: "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson]
synonym: "Curvature of the little toe" BROAD [ORCID:0000-0001-5208-3432]
synonym: "Curvature of the pinkie toe" BROAD [ORCID:0000-0001-5208-3432]
synonym: "Curvature of the pinky toe" BROAD [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025741
xref: UMLS:C4280586
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010344 ! Deviation of the 5th toe

[Term]
id: HP:0001868
name: Autoamputation of foot
def: "Spontaneous detachment of a foot from the body." [HPO:probinson]
xref: UMLS:C4025740
is_a: HP:0001218 ! Autoamputation
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0001869
name: Deep plantar creases
def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot." [HPO:probinson]
synonym: "Deep wrinkles in soles of feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1857953
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0001870
name: Acroosteolysis of distal phalanges (feet)
synonym: "Acroosteolysis of distal phalanges of feet" EXACT []
xref: UMLS:C4025739
is_a: HP:0001842 ! Foot acroosteolysis
is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes

[Term]
id: HP:0001871
name: Abnormality of blood and blood-forming tissues
alt_id: HP:0003135
def: "An abnormality of the hematopoietic system." [HPO:probinson]
comment: The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes.
synonym: "Abnormality of blood and blood-forming tissues" EXACT layperson []
synonym: "Abnormality of the haematopoietic system" RELATED []
synonym: "Abnormality of the hematopoietic system" EXACT []
synonym: "Hematologic disease" RELATED []
synonym: "Hematological abnormality" EXACT []
xref: MSH:D006402
xref: SNOMEDCT_US:191124002
xref: SNOMEDCT_US:34093004
xref: UMLS:C0018939
xref: UMLS:C0850715
xref: UMLS:C4020864
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001872
name: Abnormal thrombocyte morphology
alt_id: HP:0004807
alt_id: HP:0005554
def: "An abnormality of platelets." [HPO:probinson]
comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation.
synonym: "Blood platelet disease" RELATED []
synonym: "Platelet abnormalities" EXACT layperson []
synonym: "Thrombasthenia" RELATED []
xref: MSH:D013915
xref: SNOMEDCT_US:127566005
xref: SNOMEDCT_US:32942005
xref: UMLS:C0040015
xref: UMLS:C0151854
xref: UMLS:C4020863
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001873
name: Thrombocytopenia
alt_id: HP:0001906
alt_id: HP:0004838
alt_id: HP:0008175
alt_id: HP:0008268
alt_id: HP:0008302
def: "A reduction in the number of circulating thrombocytes." [HPO:probinson]
comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).
synonym: "Low platelet count" EXACT layperson []
xref: MSH:D013921
xref: SNOMEDCT_US:302215000
xref: SNOMEDCT_US:415116008
xref: UMLS:C0040034
xref: UMLS:C0392386
is_a: HP:0011873 ! Abnormal platelet count

[Term]
id: HP:0001874
name: Abnormality of neutrophils
def: "A neutrophil abnormality." [HPO:probinson, PMID:21094463, PMID:26819959]
comment: Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day.
synonym: "Abnormality of neutrophils" EXACT layperson []
synonym: "Abnormality of polymorphonuclear neutrophils" EXACT []
xref: SNOMEDCT_US:250274006
xref: UMLS:C0427515
is_a: HP:0001911 ! Abnormal granulocyte morphology

[Term]
id: HP:0001875
name: Neutropenia
alt_id: HP:0005515
alt_id: HP:0005533
def: "An abnormally low number of neutrophils in the peripheral blood." [HPO:probinson, PMID:25642312]
comment: Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood.
synonym: "Low blood neutrophil count" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Low neutrophil count" EXACT layperson []
synonym: "Peripheral neutropenia" EXACT []
xref: SNOMEDCT_US:165517008
xref: UMLS:C0853697
is_a: HP:0011991 ! Abnormal neutrophil count

[Term]
id: HP:0001876
name: Pancytopenia
def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [HPO:probinson]
synonym: "Low blood cell count" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010198
xref: SNOMEDCT_US:127034005
xref: UMLS:C0030312
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow

[Term]
id: HP:0001877
name: Abnormal erythrocyte morphology
alt_id: HP:0010973
def: "Any structural abnormality of erythrocytes (red-blood cells)." [HPO:probinson]
synonym: "Abnormality of erythrocytes" EXACT []
synonym: "Abnormality of erythroid lineage cell" RELATED []
synonym: "Abnormality of red blood cells" EXACT []
xref: SNOMEDCT_US:12222001
xref: UMLS:C0391870
xref: UMLS:C4020862
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001878
name: Hemolytic anemia
alt_id: HP:0001910
alt_id: HP:0004827
alt_id: HP:0004853
alt_id: HP:0004868
alt_id: HP:0005503
def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [HPO:probinson]
comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count.
synonym: "Haemolytic anaemia" EXACT []
synonym: "Increased hemolysis" EXACT []
xref: MSH:D000743
xref: SNOMEDCT_US:61261009
xref: UMLS:C0002878
is_a: HP:0011895 ! Anemia due to reduced life span of red cells

[Term]
id: HP:0001879
name: Abnormal eosinophil morphology
def: "An abnormal count or structure of eosinophils." [HPO:probinson, PMID:23154224]
comment: Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged.
synonym: "Abnormality of eosinophils" EXACT []
xref: UMLS:C4025738
is_a: HP:0001911 ! Abnormal granulocyte morphology

[Term]
id: HP:0001880
name: Eosinophilia
def: "Increased count of eosinophils in the blood." [HPO:sdoelken]
synonym: "High blood eosinophil count" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D004802
xref: UMLS:C0014457
is_a: HP:0001974 ! Leukocytosis
is_a: HP:0020064 ! Abnormal eosinophil count

[Term]
id: HP:0001881
name: Abnormal leukocyte morphology
def: "An abnormality of leukocytes." [HPO:probinson]
comment: Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue.
synonym: "Abnormal leukocyte function" EXACT []
synonym: "Abnormality of leukocytes" EXACT []
xref: SNOMEDCT_US:134199001
xref: SNOMEDCT_US:24827003
xref: UMLS:C0152009
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
is_a: HP:0010987 ! Abnormal cellular immune system morphology

[Term]
id: HP:0001882
name: Leukopenia
def: "An abnormal decreased number of leukocytes in the blood." [HPO:probinson]
synonym: "Decreased blood leukocyte number" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Low white blood cell count" EXACT layperson []
xref: MSH:D007970
xref: SNOMEDCT_US:84828003
xref: UMLS:C0023530
is_a: HP:0011893 ! Abnormal leukocyte count

[Term]
id: HP:0001883
name: Talipes
def: "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [HPO:sdoelken]
comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down.
synonym: "Talipes foot deformities" RELATED [HPO:skoehler]
xref: MSH:D000070558
xref: SNOMEDCT_US:398309008
xref: UMLS:C1301937
xref: UMLS:C3552713
is_a: HP:0005656 ! Positional foot deformity

[Term]
id: HP:0001884
name: Talipes calcaneovalgus
def: "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [HPO:curators]
synonym: "Pes calcaneovarus" EXACT []
xref: MSH:D005413
xref: SNOMEDCT_US:205083002
xref: SNOMEDCT_US:31668003
xref: UMLS:C0152237
is_a: HP:0001883 ! Talipes

[Term]
id: HP:0001885
name: Short 2nd toe
def: "Underdevelopment (hypoplasia) of the second toe." [HPO:probinson]
synonym: "Short second toe" EXACT layperson []
xref: UMLS:C4021769
is_a: HP:0001831 ! Short toe

[Term]
id: HP:0001886
name: Foot osteomyelitis
def: "An infection of bone of the foot." []
synonym: "Foot bone infection" EXACT layperson []
xref: UMLS:C4025737
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0002754 ! Osteomyelitis

[Term]
id: HP:0001888
name: Lymphopenia
def: "A reduced number of lymphocytes in the blood." [HPO:probinson]
synonym: "Absolute lymphocyte count decrease" EXACT []
synonym: "Decreased blood lymphocyte number" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Low lymphocyte number" EXACT layperson [ORCID:0000-0001-7941-2961]
synonym: "Lymphocytopenia" EXACT []
xref: MSH:D008231
xref: SNOMEDCT_US:48813009
xref: UMLS:C0024312
is_a: HP:0001882 ! Leukopenia
is_a: HP:0040088 ! Abnormal lymphocyte count

[Term]
id: HP:0001889
name: Megaloblastic anemia
alt_id: HP:0004858
def: "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [HPO:probinson]
comment: Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis.
xref: MSH:D000749
xref: SNOMEDCT_US:53165003
xref: UMLS:C0002888
is_a: HP:0001972 ! Macrocytic anemia

[Term]
id: HP:0001890
name: Autoimmune hemolytic anemia
def: "An autoimmune form of hemolytic anemia." [HPO:probinson]
synonym: "Autoimmune haemolytic anaemia" EXACT []
synonym: "Hemolytic anemia, autoimmune" EXACT []
xref: MSH:D000744
xref: SNOMEDCT_US:413603009
xref: UMLS:C0002880
is_a: HP:0001878 ! Hemolytic anemia
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0001891
name: Iron deficiency anemia
synonym: "Ferropenic" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Iron-deficiency anemia" EXACT []
xref: MSH:D018798
xref: SNOMEDCT_US:87522002
xref: UMLS:C0162316
is_a: HP:0001931 ! Hypochromic anemia

[Term]
id: HP:0001892
name: Abnormal bleeding
alt_id: HP:0004830
alt_id: HP:0004834
alt_id: HP:0004849
alt_id: HP:0004862
alt_id: HP:0004865
alt_id: HP:0008183
def: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [HPO:probinson]
comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted.
synonym: "Bleeding diathesis" EXACT []
synonym: "Bleeding tendency" EXACT layperson []
synonym: "Hemorrhagic diathesis" EXACT []
xref: SNOMEDCT_US:248250000
xref: SNOMEDCT_US:64779008
xref: UMLS:C1458140
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001894
name: Thrombocytosis
def: "Increased numbers of platelets in the peripheral blood." [HPO:probinson]
comment: Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia.
synonym: "Increased number of platelets in blood" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Increased platelet count" EXACT []
synonym: "Thrombocythaemia" RELATED []
synonym: "Thrombocythemia" RELATED []
xref: MSH:D013922
xref: SNOMEDCT_US:415115007
xref: SNOMEDCT_US:6631009
xref: UMLS:C0836924
xref: UMLS:C0857460
is_a: HP:0011873 ! Abnormal platelet count

[Term]
id: HP:0001895
name: Normochromic anemia
xref: UMLS:C0235983
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001896
name: Reticulocytopenia
def: "A reduced number of reticulocytes in the peripheral blood." [HPO:probinson]
xref: SNOMEDCT_US:124961001
xref: UMLS:C0858867
is_a: HP:0004312 ! Abnormality of reticulocytes

[Term]
id: HP:0001897
name: Normocytic anemia
def: "A kind of anemia in which the volume of the red blood cells is normal." [HPO:probinson]
comment: In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults).
xref: SNOMEDCT_US:300980002
xref: UMLS:C0085577
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001898
name: Increased red blood cell mass
def: "The presence of an increased mass of red blood cells in the circulation." [HPO:probinson]
synonym: "Increased RBC mass" EXACT HP:0045077 []
xref: UMLS:C1853288
is_a: HP:0001901 ! Polycythemia

[Term]
id: HP:0001899
name: Increased hematocrit
def: "An elevation above the normal ratio of the volume of red blood cells to the total volume of blood." [HPO:probinson]
synonym: "Increased Hct" EXACT HP:0045077 []
xref: UMLS:C0239935
is_a: HP:0031850 ! Abnormal hematocrit

[Term]
id: HP:0001900
name: Increased hemoglobin
synonym: "Increased Hb" EXACT HP:0045077 []
xref: SNOMEDCT_US:131141003
xref: UMLS:C0549448
is_a: HP:0001901 ! Polycythemia

[Term]
id: HP:0001901
name: Polycythemia
alt_id: HP:0001893
def: "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [HPO:probinson]
synonym: "Abnormally shaped erythrocytes" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Erythrocytosis" EXACT []
synonym: "Increased red blood cells" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Polyglobulia" EXACT []
xref: MSH:D011086
xref: SNOMEDCT_US:109992005
xref: SNOMEDCT_US:127062003
xref: UMLS:C0032461
xref: UMLS:C1527405
is_a: HP:0001877 ! Abnormal erythrocyte morphology

[Term]
id: HP:0001902
name: Giant platelets
def: "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)." [HPO:probinson]
comment: This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly.
xref: SNOMEDCT_US:44687006
xref: UMLS:C0333864
is_a: HP:0011877 ! Increased mean platelet volume

[Term]
id: HP:0001903
name: Anemia
alt_id: HP:0001926
alt_id: HP:0003136
alt_id: HP:0005509
def: "A reduction in erythrocytes volume or hemoglobin concentration." [HPO:probinson]
comment: Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias.
synonym: "Anaemia" EXACT []
synonym: "Decreased hemoglobin" RELATED []
synonym: "Low number of red blood cells or hemoglobin" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D000740
xref: SNOMEDCT_US:165397008
xref: SNOMEDCT_US:271737000
xref: UMLS:C0002871
xref: UMLS:C0162119
is_a: HP:0001877 ! Abnormal erythrocyte morphology

[Term]
id: HP:0001904
name: Neutropenia in presence of anti-neutropil antibodies
def: "A type of neutropenia that is observed in the presence of granulocyte-specific antibodies." [HPO:probinson, PMID:25642312]
comment: The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction.
synonym: "Autoimmune neutropenia" EXACT []
xref: SNOMEDCT_US:234425008
xref: UMLS:C0340971
is_a: HP:0001875 ! Neutropenia
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0001905
name: Congenital thrombocytopenia
alt_id: HP:0004869
def: "Thrombocytopenia with congenital onset." [HPO:probinson]
synonym: "thrombocytopenia, congenital" EXACT []
xref: UMLS:C0272278
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0001907
name: Thromboembolism
def: "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [HPO:probinson]
synonym: "Blood clot in blood vessel" EXACT [http://purl.obolibrary.org/obo/hp.owl#layperson, ORCID:0000-0002-6548-5200]
synonym: "Embolism and thrombosis" RELATED []
synonym: "Thromboembolic disease" EXACT []
synonym: "Thromboembolic events" EXACT []
xref: MSH:D013923
xref: MSH:D016769
xref: SNOMEDCT_US:13713005
xref: SNOMEDCT_US:371039008
xref: UMLS:C0040038
xref: UMLS:C0085307
is_a: HP:0001977 ! Abnormal thrombosis

[Term]
id: HP:0001908
name: Hypoplastic anemia
def: "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [HPO:probinson]
xref: MSH:D000741
xref: SNOMEDCT_US:167923006
xref: SNOMEDCT_US:41614006
xref: UMLS:C0178416
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001909
name: Leukemia
alt_id: HP:0005519
alt_id: HP:0006726
def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:probinson, NCIT:C3161]
synonym: "Blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D007938
xref: MSH:D019337
xref: SNOMEDCT_US:129154003
xref: SNOMEDCT_US:269475001
xref: SNOMEDCT_US:87163000
xref: SNOMEDCT_US:93143009
xref: UMLS:C0023418
xref: UMLS:C0376545
is_a: HP:0001881 ! Abnormal leukocyte morphology
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0001911
name: Abnormal granulocyte morphology
alt_id: HP:0005438
def: "Any structural abnormality or abnormal count of granulocytes." [HPO:probinson]
synonym: "Abnormality of granulocytes" EXACT []
synonym: "Abnormality of neutrophil" EXACT []
xref: SNOMEDCT_US:250274006
xref: UMLS:C0427515
is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology

[Term]
id: HP:0001912
name: Abnormal basophil morphology
def: "Any structural abnormality or abnormal count of basophils." [HPO:probinson, PMID:24075190]
comment: Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies.
synonym: "Abnormality of basophils" EXACT []
xref: UMLS:C4025736
is_a: HP:0001911 ! Abnormal granulocyte morphology

[Term]
id: HP:0001913
name: Granulocytopenia
def: "An abnormally reduced number of granulocytes in the blood." [HPO:probinson]
xref: MSH:D000380
xref: SNOMEDCT_US:17182001
xref: SNOMEDCT_US:417672002
xref: UMLS:C0001824
is_a: HP:0032309 ! Abnormal granulocyte count

[Term]
id: HP:0001915
name: Aplastic anemia
def: "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [HPO:probinson, pmid:21239768]
comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production.
xref: MSH:D000741
xref: SNOMEDCT_US:304132006
xref: SNOMEDCT_US:306058006
xref: UMLS:C0002874
is_a: HP:0001876 ! Pancytopenia

[Term]
id: HP:0001917
name: Renal amyloidosis
def: "A form of amyloidosis that affects the kidney." [HPO:probinson]
xref: SNOMEDCT_US:48713002
xref: UMLS:C0268382
is_a: HP:0011034 ! Amyloidosis
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0001919
name: Acute kidney injury
def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [HPO:probinson]
comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies.
synonym: "Acute kidney failure" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Acute renal failure" EXACT []
xref: MSH:D058186
xref: SNOMEDCT_US:14350001000004108
xref: SNOMEDCT_US:14669001
xref: UMLS:C0022660
xref: UMLS:C2609414
is_a: HP:0000083 ! Renal insufficiency

[Term]
id: HP:0001920
name: Renal artery stenosis
def: "The presence of stenosis of the renal artery." [HPO:probinson]
synonym: "Narrowing of kidney artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:2634
xref: MSH:D012078
xref: SNOMEDCT_US:282664001
xref: SNOMEDCT_US:302233006
xref: UMLS:C0035067
is_a: HP:0008776 ! Abnormal renal artery morphology
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0001922
name: Vacuolated lymphocytes
alt_id: HP:0008147
alt_id: HP:0008329
def: "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm." [HPO:probinson, pmid:20633042]
comment: Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency.
synonym: "Enlarged lysosomal vacuoles in lymphocytes" EXACT []
synonym: "Vacuolated blood lymphocytes" EXACT []
xref: UMLS:C1836855
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0001923
name: Reticulocytosis
def: "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation." [HPO:probinson]
synonym: "Increased immature red blood cells" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Increased number of immature red blood cells" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Increased reticulocyte count" EXACT []
synonym: "Increased reticulocytes" EXACT []
xref: MSH:D045262
xref: SNOMEDCT_US:46049004
xref: UMLS:C0206160
is_a: HP:0004312 ! Abnormality of reticulocytes

[Term]
id: HP:0001924
name: Sideroblastic anemia
alt_id: HP:0100791
def: "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." [HPO:probinson]
comment: Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low.
synonym: "Hypersideremic anemia" EXACT []
xref: MSH:D000756
xref: SNOMEDCT_US:41841004
xref: UMLS:C0002896
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001927
name: Acanthocytosis
alt_id: HP:0005552
def: "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars." [HPO:probinson]
subset: hposlim_core
synonym: "Acanthocytes" EXACT []
synonym: "Red cell acanthocytosis" EXACT []
xref: SNOMEDCT_US:250249008
xref: UMLS:C0687751
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0001928
name: Abnormality of coagulation
def: "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [HPO:probinson]
synonym: "Abnormal blood clotting" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Abnormal blood coagulation studies" EXACT []
synonym: "Blood coagulation disorder" RELATED []
synonym: "Coagulation abnormalities" EXACT []
synonym: "Coagulation abnormality" EXACT []
synonym: "Haemorrhagic disorders" EXACT [HPO:sdoelken]
xref: MSH:D001778
xref: MSH:D006474
xref: SNOMEDCT_US:362970003
xref: SNOMEDCT_US:64779008
xref: UMLS:C0005779
xref: UMLS:C0019087
xref: UMLS:C1846821
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001929
name: Reduced factor XI activity
def: "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." [HPO:probinson]
synonym: "Factor XI deficiency" RELATED []
synonym: "Low factor XI activity" EXACT []
xref: MSH:D005173
xref: SNOMEDCT_US:49762007
xref: UMLS:C0015523
is_a: HP:0010989 ! Abnormality of the intrinsic pathway

[Term]
id: HP:0001930
name: Nonspherocytic hemolytic anemia
xref: UMLS:C4025735
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0001931
name: Hypochromic anemia
def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [HPO:probinson]
comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic).
synonym: "Hypochromic anaemia" EXACT []
xref: MSH:D000747
xref: SNOMEDCT_US:44452003
xref: UMLS:C0002884
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001933
name: Subcutaneous hemorrhage
def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [HPO:probinson]
comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm.
synonym: "Bleeding below the skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0854107
is_a: HP:0001892 ! Abnormal bleeding
is_a: HP:0011276 ! Vascular skin abnormality
created_by: peter
creation_date: 2008-02-28T07:14:00Z

[Term]
id: HP:0001934
name: Persistent bleeding after trauma
alt_id: HP:0007463
synonym: "Excessive bleeding after minor trauma" EXACT layperson []
synonym: "Frequent bleeding with trauma" EXACT layperson []
synonym: "Prolonged bleeding after minor trauma" EXACT layperson []
xref: UMLS:C1844374
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0001935
name: Microcytic anemia
def: "A kind of anemia in which the volume of the red blood cells is reduced." [HPO:probinson]
comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults).
xref: MSH:C562385
xref: SNOMEDCT_US:234349007
xref: UMLS:C0085576
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001937
name: Microangiopathic hemolytic anemia
xref: MSH:D000743
xref: SNOMEDCT_US:51071000
xref: UMLS:C0221021
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0001939
name: Abnormality of metabolism/homeostasis
alt_id: HP:0002146
alt_id: HP:0004355
alt_id: HP:0004367
synonym: "Laboratory abnormality" EXACT layperson []
synonym: "Metabolism abnormality" EXACT layperson []
xref: UMLS:C4021768
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0001941
name: Acidosis
alt_id: HP:0001940
def: "Abnormal acid accumulation or depletion of base." [HPO:probinson, PMID:24381489]
comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
xref: MSH:D000138
xref: SNOMEDCT_US:51387008
xref: UMLS:C0001122
is_a: HP:0004360 ! Abnormality of acid-base homeostasis

[Term]
id: HP:0001942
name: Metabolic acidosis
alt_id: HP:0004895
alt_id: HP:0004907
def: "Acid accumulation or depletion of base in the body due to buildup of metabolic acids." [HPO:probinson]
xref: MSH:D000138
xref: SNOMEDCT_US:59455009
xref: UMLS:C0220981
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0001943
name: Hypoglycemia
alt_id: HP:0003356
def: "A decreased concentration of glucose in the blood." [HPO:curators]
synonym: "Hypoglycaemia" EXACT []
synonym: "Low blood sugar" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D007003
xref: SNOMEDCT_US:237630007
xref: SNOMEDCT_US:271327008
xref: SNOMEDCT_US:302866003
xref: UMLS:C0020615
is_a: HP:0011015 ! Abnormal blood glucose concentration

[Term]
id: HP:0001944
name: Dehydration
synonym: "Dehydration" EXACT layperson []
xref: MSH:D003681
xref: SNOMEDCT_US:34095006
xref: UMLS:C0011175
is_a: HP:0011032 ! Abnormality of fluid regulation

[Term]
id: HP:0001945
name: Fever
def: "Elevated body temperature due to failed thermoregulation." [HPO:sdoelken]
comment: Hyperthermia is defined as a temperature greater than 37.5-38.3 degree celsius (100-101 degree Fahrenheit).
synonym: "Fever" EXACT layperson []
synonym: "Hyperthermia" EXACT []
synonym: "Pyrexia" EXACT []
xref: MSH:D005334
xref: SNOMEDCT_US:386661006
xref: SNOMEDCT_US:50177009
xref: UMLS:C0015967
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0001946
name: Ketosis
alt_id: HP:0003543
def: "Presence of elevated levels of ketone bodies in the body." [HPO:probinson]
comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded.
synonym: "High levels of ketone bodies" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hyperketosis" EXACT []
xref: MSH:D007662
xref: SNOMEDCT_US:213281004
xref: SNOMEDCT_US:2538008
xref: UMLS:C0022638
xref: UMLS:C0235430
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis

[Term]
id: HP:0001947
name: Renal tubular acidosis
def: "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." [HPO:probinson]
synonym: "Accumulation of acid in body due to kidney problem" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D000141
xref: SNOMEDCT_US:1776003
xref: UMLS:C0001126
is_a: HP:0000124 ! Renal tubular dysfunction
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0001948
name: Alkalosis
def: "Depletion of acid or accumulation base in the body fluids." [HPO:probinson, PMID:24381489]
comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
xref: MSH:D000471
xref: SNOMEDCT_US:21420006
xref: UMLS:C0002063
is_a: HP:0004360 ! Abnormality of acid-base homeostasis

[Term]
id: HP:0001949
name: Hypokalemic alkalosis
xref: SNOMEDCT_US:22774003
xref: UMLS:C0085570
is_a: HP:0001948 ! Alkalosis

[Term]
id: HP:0001950
name: Respiratory alkalosis
def: "Alkalosis due to excess loss of carbon dioxide from the body." [HPO:probinson]
xref: MSH:D000472
xref: SNOMEDCT_US:111378004
xref: UMLS:C0002064
is_a: HP:0001948 ! Alkalosis

[Term]
id: HP:0001951
name: Episodic ammonia intoxication
xref: UMLS:C1839541
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration

[Term]
id: HP:0001952
name: Glucose intolerance
alt_id: HP:0000833
def: "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)." [PMID:29763085]
synonym: "Abnormal glucose tolerance" EXACT []
synonym: "Glucose intolerance" EXACT layperson []
synonym: "HP:0000833" EXACT []
xref: UMLS:C0235401
is_a: HP:0011014 ! Abnormal glucose homeostasis

[Term]
id: HP:0001953
name: Diabetic ketoacidosis
alt_id: HP:0008253
def: "A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [HPO:probinson]
synonym: "Diabetic ketosis" EXACT []
xref: MSH:D016883
xref: SNOMEDCT_US:420422005
xref: UMLS:C0011880
is_a: HP:0000819 ! Diabetes mellitus
is_a: HP:0001993 ! Ketoacidosis

[Term]
id: HP:0001954
name: Recurrent fever
alt_id: HP:0004903
alt_id: HP:0005962
alt_id: HP:0005966
alt_id: HP:0005980
def: "Periodic (episodic or recurrent) bouts of fever." [HPO:probinson]
synonym: "Episodic fever" EXACT layperson []
synonym: "Hyperthermia, episodic" EXACT []
synonym: "Increased body temperature, episodic" EXACT layperson []
synonym: "Intermittent fever" EXACT layperson []
xref: SNOMEDCT_US:77957000
xref: UMLS:C0277799
is_a: HP:0001945 ! Fever

[Term]
id: HP:0001955
name: Unexplained fevers
def: "Episodes of fever for which no infectious cause can be identified." [HPO:curators]
synonym: "Unexplained fevers" EXACT layperson []
xref: UMLS:C1844662
is_a: HP:0001945 ! Fever

[Term]
id: HP:0001956
name: Truncal obesity
alt_id: HP:0008885
def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:probinson]
synonym: "Centripetal obesity" EXACT []
synonym: "Truncal obesity" EXACT layperson []
xref: MSH:D056128
xref: SNOMEDCT_US:248311001
xref: UMLS:C0311277
is_a: HP:0001513 ! Obesity

[Term]
id: HP:0001958
name: Nonketotic hypoglycemia
xref: UMLS:C1865292
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0001959
name: Polydipsia
def: "Excessive thirst manifested by excessive fluid intake." []
synonym: "Extreme thirst" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D059606
xref: SNOMEDCT_US:17173007
xref: SNOMEDCT_US:267026004
xref: UMLS:C0085602
is_a: HP:0030082 ! Abnormal drinking behavior

[Term]
id: HP:0001960
name: Hypokalemic metabolic alkalosis
xref: UMLS:C0740898
is_a: HP:0001949 ! Hypokalemic alkalosis
is_a: HP:0200114 ! Metabolic alkalosis

[Term]
id: HP:0001961
name: Hypoplastic heart
synonym: "Small heart" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped heart" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3151525
is_a: HP:0001627 ! Abnormal heart morphology

[Term]
id: HP:0001962
name: Palpitations
alt_id: HP:0001676
def: "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [HPO:probinson]
synonym: "Heart palpitations" EXACT []
synonym: "Missed heart beat" EXACT layperson []
synonym: "Palpitations" EXACT layperson []
synonym: "Skipped heart beat" EXACT layperson []
xref: SNOMEDCT_US:80313002
xref: UMLS:C0030252
is_a: HP:0011675 ! Arrhythmia

[Term]
id: HP:0001963
name: Abnormal speech discrimination
def: "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [HPO:curators]
synonym: "Abnormal speech discrimination" EXACT layperson []
synonym: "Poor speech discrimination" EXACT layperson []
xref: UMLS:C1836752
is_a: HP:0000364 ! Hearing abnormality

[Term]
id: HP:0001964
name: Aplasia/Hypoplasia of metatarsal bones
def: "Absence or underdevelopment of the metatarsal bones." [HPO:curators]
synonym: "Absent or hypoplastic metatarsal" EXACT []
synonym: "Absent/hypoplastic metacarpals" EXACT []
synonym: "Absent/hypoplastic metatarsals" EXACT []
synonym: "Absent/small long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic metatarsals" EXACT []
xref: UMLS:C1860182
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet

[Term]
id: HP:0001965
name: Abnormality of the scalp
def: "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows." [HPO:probinson]
comment: The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones.
synonym: "Abnormality of the scalp" EXACT layperson []
synonym: "Anomaly of scalp" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025734
is_a: HP:0000234 ! Abnormality of the head

[Term]
id: HP:0001966
name: Mesangial abnormality
def: "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries." [HPO:probinson]
xref: UMLS:C4025733
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology

[Term]
id: HP:0001967
name: Diffuse mesangial sclerosis
alt_id: HP:0004728
def: "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion." [HPO:probinson]
comment: This finding can be demonstrated by renal biopsy.
synonym: "Diffuse mesangial sclerosis glomerulopathy" EXACT []
synonym: "Mesangial sclerosis" EXACT []
xref: MSH:C537346
xref: SNOMEDCT_US:111406002
xref: UMLS:C0268747
is_a: HP:0001966 ! Mesangial abnormality

[Term]
id: HP:0001969
name: Tubulointerstitial abnormality
alt_id: HP:0008654
def: "An abnormality that involves the tubules and interstitial tissue of the kidney." [HPO:probinson]
synonym: "Tubulointerstitial nephropathy" RELATED []
xref: MSH:D009395
xref: SNOMEDCT_US:28689008
xref: SNOMEDCT_US:428255004
xref: UMLS:C0041349
xref: UMLS:C4025732
is_a: HP:0000091 ! Abnormal renal tubule morphology

[Term]
id: HP:0001970
name: Tubulointerstitial nephritis
def: "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HP:probinson]
synonym: "Interstitial nephritis" EXACT []
synonym: "Nephritis, Tubulointerstitial" EXACT []
xref: MSH:D009395
xref: SNOMEDCT_US:28689008
xref: SNOMEDCT_US:428255004
xref: UMLS:C0041349
is_a: HP:0001969 ! Tubulointerstitial abnormality

[Term]
id: HP:0001971
name: Hypersplenism
def: "A malfunctioning of the spleen in which it prematurely destroys red blood cells." [HPO:probinson]
comment: The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly).
xref: MSH:D006971
xref: SNOMEDCT_US:58381000
xref: UMLS:C0020532
is_a: HP:0025409 ! Abnormal spleen physiology

[Term]
id: HP:0001972
name: Macrocytic anemia
def: "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)." [HPO:probinson, pmid:19202968]
comment: The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes.
xref: MSH:D000748
xref: SNOMEDCT_US:83414005
xref: UMLS:C0002886
is_a: HP:0010972 ! Anemia of inadequate production

[Term]
id: HP:0001973
name: Autoimmune thrombocytopenia
alt_id: HP:0001936
alt_id: HP:0004806
alt_id: HP:0004829
def: "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies." [DDD:wouwehand]
comment: Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial\nsystem. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection.
synonym: "Idiopathic thrombocytopenia" EXACT []
synonym: "Idiopathic thrombocytopenic purpura" RELATED []
synonym: "Immune thrombocytopenia" EXACT []
xref: MSH:D016553
xref: SNOMEDCT_US:128091003
xref: SNOMEDCT_US:13172003
xref: SNOMEDCT_US:234490009
xref: SNOMEDCT_US:32273002
xref: UMLS:C0242584
xref: UMLS:C0398650
xref: UMLS:C0920163
is_a: HP:0001873 ! Thrombocytopenia
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0001974
name: Leukocytosis
def: "An abnormal increase in the number of leukocytes in the blood." [HPO:probinson]
synonym: "Elevated white blood count" EXACT layperson []
synonym: "High white blood count" EXACT layperson []
synonym: "Increased blood leukocyte number" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D007964
xref: SNOMEDCT_US:111583006
xref: UMLS:C0023518
is_a: HP:0011893 ! Abnormal leukocyte count

[Term]
id: HP:0001975
name: Decreased platelet glycoprotein IIb-IIIa
def: "Decreased cell membrane concentration of glycoprotein IIb-IIIa." [DDD:ouwehand]
comment: The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation.
synonym: "Glanzmann thrombasthenia" RELATED []
synonym: "Reduced level of platelet glycoprotein IIb/IIIa complex" EXACT []
xref: MSH:D013915
xref: SNOMEDCT_US:32942005
xref: UMLS:C0040015
xref: UMLS:C4021767
is_a: HP:0011878 ! Abnormal platelet membrane protein expression

[Term]
id: HP:0001976
name: Reduced antithrombin III activity
def: "An abnormality of coagulation related to a decreased concentration of antithrombin-III." [HPO:probinson]
comment: Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway.
synonym: "Anti-thrombin III deficiency" EXACT []
synonym: "Antithrombin III deficiency" EXACT []
synonym: "Decreased antithrombin III" EXACT []
xref: MSH:D020152
xref: SNOMEDCT_US:36351005
xref: UMLS:C0272375
is_a: HP:0010988 ! Abnormality of the extrinsic pathway
is_a: HP:0010989 ! Abnormality of the intrinsic pathway

[Term]
id: HP:0001977
name: Abnormal thrombosis
def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [HPO:probinson]
synonym: "Abnormal blood clot" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025731
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001978
name: Extramedullary hematopoiesis
alt_id: HP:0004847
def: "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms." [HPO:probinson]
comment: During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis.
synonym: "Extramedullary erythropoiesis" RELATED []
xref: SNOMEDCT_US:124958002
xref: SNOMEDCT_US:42952007
xref: UMLS:C1292120
xref: UMLS:C2613439
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues

[Term]
id: HP:0001980
name: Megaloblastic bone marrow
def: "Abnormal increased number of megaloblasts in the bone marrow." [HPO:probinson]
comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure.
xref: SNOMEDCT_US:167921008
xref: UMLS:C0238801
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow

[Term]
id: HP:0001981
name: Schistocytosis
def: "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [HPO:probinson]
synonym: "Schistocytes" EXACT []
xref: SNOMEDCT_US:385472000
xref: UMLS:C0344386
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0001982
name: Sea-blue histiocytosis
def: "An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa." [HPO:probinson, pmid:8797061]
synonym: "'Sea blue' histiocytes" EXACT []
synonym: "Sea-blue histiocyte" EXACT []
xref: MSH:D012618
xref: SNOMEDCT_US:37821003
xref: UMLS:C0036489
is_a: HP:0004311 ! Abnormal macrophage morphology

[Term]
id: HP:0001983
name: Reduced lymphocyte surface expression of CD43
def: "A reduction in the expression of CD43 on the cell surface of lymphocytes." [HPO:probinson]
comment: CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes.
synonym: "Cd43 defectively expressed on surface of blood cells" EXACT []
synonym: "Reduced lymphocyte surface expression of sialophorin" EXACT []
xref: UMLS:C4021766
is_a: HP:0031383 ! Abnormal lymphocyte surface marker expression

[Term]
id: HP:0001984
name: Intolerance to protein
xref: UMLS:C1396243
is_a: HP:0012537 ! Food intolerance

[Term]
id: HP:0001985
name: Hypoketotic hypoglycemia
alt_id: HP:0005969
def: "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [HPO:probinson]
comment: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better.
synonym: "Hypoglycemia, hypoketotic" EXACT []
xref: UMLS:C1856438
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0001986
name: Hypertonic dehydration
synonym: "Hyperosmolar dehydration" EXACT []
xref: UMLS:C1112601
is_a: HP:0001944 ! Dehydration

[Term]
id: HP:0001987
name: Hyperammonemia
alt_id: HP:0008308
alt_id: HP:0008334
def: "An increased concentration of ammonia in the blood." [HPO:gcarletti]
synonym: "High blood ammonia levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D022124
xref: SNOMEDCT_US:9360008
xref: UMLS:C0220994
is_a: HP:0002157 ! Azotemia

[Term]
id: HP:0001988
name: Recurrent hypoglycemia
def: "Recurrent episodes of decreased concentration of glucose in the blood." [HPO:gcarletti]
synonym: "hypoglycaemia, recurrent" EXACT [HPO:skoehler]
synonym: "hypoglycemia, recurrent" EXACT [HPO:skoehler]
synonym: "Hypoglycemic episodes" EXACT []
synonym: "Recurrent hypoglycaemia" EXACT []
synonym: "Recurrent hypoglycemic episodes" EXACT []
synonym: "Recurrent low blood sugar levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846288
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0001989
name: Fetal akinesia sequence
def: "Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)." [HPO:probinson]
subset: hposlim_core
synonym: "Early severe fetal akinesia sequence" RELATED [HPO:skoehler]
synonym: "Fetal akinesia" RELATED [HPO:skoehler]
xref: MSH:C536647
xref: SNOMEDCT_US:401138005
xref: UMLS:C1276035
xref: UMLS:C3151520
is_a: HP:0001558 ! Decreased fetal movement

[Term]
id: HP:0001991
name: Aplasia/Hypoplasia of toe
def: "Absence or hypoplasia of toes." [HPO:probinson]
synonym: "Absent/hypoplastic toes" RELATED [HPO:skoehler]
synonym: "Absent/small toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic toe phalanges" EXACT []
xref: UMLS:C3551148
is_a: HP:0001780 ! Abnormality of toe
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet

[Term]
id: HP:0001992
name: Organic aciduria
def: "Excretion of non-amino organic acids in urine." [HPO:probinson]
xref: UMLS:C0241775
is_a: HP:0012072 ! Aciduria

[Term]
id: HP:0001993
name: Ketoacidosis
def: "Acidosis resulting from accumulation of ketone bodies." [HPO:probinson]
comment: Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism.
xref: SNOMEDCT_US:56051008
xref: UMLS:C0220982
is_a: HP:0001941 ! Acidosis
is_a: HP:0001946 ! Ketosis

[Term]
id: HP:0001994
name: Renal Fanconi syndrome
def: "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [HPO:probinson]
synonym: "'de toni-fanconi-debre' syndrome" EXACT []
synonym: "Renal tubular fanconi syndrome" EXACT []
xref: MSH:D005198
xref: SNOMEDCT_US:236468006
xref: SNOMEDCT_US:44673006
xref: UMLS:C0341703
is_a: HP:0011038 ! Abnormality of renal resorption

[Term]
id: HP:0001995
name: Hyperchloremic acidosis
xref: SNOMEDCT_US:18104000
xref: UMLS:C0085569
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0001996
name: Chronic metabolic acidosis
def: "Longstanding metabolic acidosis." [HPO:probinson, pmid:15882309]
comment: Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function.
xref: UMLS:C0740749
is_a: HP:0001942 ! Metabolic acidosis
is_a: HP:0012468 ! Chronic acidosis

[Term]
id: HP:0001997
name: Gout
alt_id: HP:0001368
def: "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues." [HPO:sdoelken]
synonym: "Gouty arthritis" EXACT []
xref: MSH:D006073
xref: MSH:D015210
xref: SNOMEDCT_US:170733007
xref: SNOMEDCT_US:190828008
xref: SNOMEDCT_US:48440001
xref: SNOMEDCT_US:90560007
xref: UMLS:C0003868
xref: UMLS:C0018099
is_a: HP:0001369 ! Arthritis

[Term]
id: HP:0001998
name: Neonatal hypoglycemia
synonym: "Low blood sugar in newborn" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:52767006
xref: UMLS:C0158986
is_a: HP:0001943 ! Hypoglycemia

[Term]
id: HP:0001999
name: Abnormal facial shape
alt_id: HP:0002004
alt_id: HP:0002260
alt_id: HP:0004643
alt_id: HP:0004649
alt_id: HP:0004652
alt_id: HP:0004655
alt_id: HP:0004675
alt_id: HP:0005124
def: "An abnormal morphology (form) of the face or its components." [DDD:jclayton-smith]
comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.
subset: hposlim_core
synonym: "Abnormal facial shape" EXACT layperson []
synonym: "Abnormal morphology of the face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of face" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Distinctive facies" EXACT []
synonym: "Distortion of face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Dysmorphic facial features" EXACT []
synonym: "Dysmorphic facies" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Facial dysmorphism" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Funny looking face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of face" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Unusual facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unusual facies" EXACT []
xref: SNOMEDCT_US:248200007
xref: SNOMEDCT_US:32003007
xref: SNOMEDCT_US:398206004
xref: SNOMEDCT_US:398302004
xref: UMLS:C0266617
xref: UMLS:C0424503
xref: UMLS:C1385263
xref: UMLS:C4072832
xref: UMLS:C4072833
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0002000
name: Short columella
def: "Reduced distance from the anterior border of the naris to the subnasale." [pmid:19152422]
comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis.
subset: hposlim_core
synonym: "Columella, short" EXACT []
synonym: "Decreased length of columella" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of columella" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C1857479
xref: UMLS:C4280585
is_a: HP:0009929 ! Abnormality of the columella

[Term]
id: HP:0002002
name: Deep philtrum
alt_id: HP:0000305
alt_id: HP:0004654
def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [pmid:19152422]
comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges.
subset: hposlim_core
synonym: "Depressed philtrum" RELATED []
synonym: "Increased depth of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Philtrum, deep" EXACT []
synonym: "Prominent philtrum" EXACT []
synonym: "Pronounced philtrum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1839797
xref: UMLS:C4020861
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0002003
name: Large forehead
synonym: "Hyperplasia of forehead" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of forehead" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Increased size of forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased size of frontal region of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large forehead" EXACT layperson []
xref: UMLS:C1839783
xref: UMLS:C4280583
xref: UMLS:C4280584
is_a: HP:0000290 ! Abnormality of the forehead

[Term]
id: HP:0002006
name: Facial cleft
def: "A congenital malformation with a cleft (gap or opening) in the face." [HPO:probinson]
comment: The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations.
subset: hposlim_core
synonym: "Cleft of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial cleft" EXACT layperson []
synonym: "Facial clefts" RELATED layperson [HPO:skoehler]
synonym: "Tessier facial cleft" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:92821006
xref: UMLS:C0685787
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0002007
name: Frontal bossing
alt_id: HP:0000254
alt_id: HP:0000333
alt_id: HP:0001358
alt_id: HP:0001359
def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [pmid:19125436]
comment: This is not the same as prominent forehead.
subset: hposlim_core
synonym: "Frontal protruberance" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Skull bossing" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:90145001
xref: UMLS:C0221354
is_a: HP:0000290 ! Abnormality of the forehead
is_a: HP:0011218 ! Abnormal shape of the frontal region

[Term]
id: HP:0002009
name: Potter facies
def: "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose." [HPO:probinson]
comment: Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance.
xref: SNOMEDCT_US:24814002
xref: UMLS:C0266619
is_a: HP:0011334 ! Facial shape deformation

[Term]
id: HP:0002010
name: Narrow maxilla
synonym: "Decreased breadth of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased transverse dimension of maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Narrow upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Transverse hypoplasia of maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Transverse maxillary deficiency" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Transverse maxillary insufficiency" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1851835
is_a: HP:0000326 ! Abnormality of the maxilla

[Term]
id: HP:0002011
name: Morphological abnormality of the central nervous system
alt_id: HP:0002405
alt_id: HP:0002413
alt_id: HP:0002481
alt_id: HP:0007319
def: "A structural abnormality of the central nervous system." [HPO:probinson]
synonym: "Abnormality of the central nervous system" EXACT []
synonym: "Central nervous system disease" RELATED []
synonym: "Morphological abnormality of the CNS" EXACT HP:0045077 []
xref: MSH:D002493
xref: SNOMEDCT_US:23853001
xref: UMLS:C0007682
xref: UMLS:C4021765
is_a: HP:0012639 ! Abnormality of nervous system morphology

[Term]
id: HP:0002012
name: Abnormality of the abdominal organs
def: "An abnormality of the viscera of the abdomen." [HPO:probinson]
comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen.
synonym: "Abnormality of the abdominal organs" EXACT layperson []
synonym: "Gastrointestinal tract defects" EXACT []
xref: UMLS:C4021764
is_a: HP:0025031 ! Abnormality of the digestive system

[Term]
id: HP:0002013
name: Vomiting
def: "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson]
subset: hposlim_core
synonym: "Emesis" EXACT []
synonym: "Throwing up" EXACT layperson []
synonym: "Vomiting" EXACT layperson []
xref: MEDDRA:10047700 "Vomiting"
xref: MSH:D014839
xref: SNOMEDCT_US:249497008
xref: SNOMEDCT_US:300359004
xref: SNOMEDCT_US:422400008
xref: UMLS:C0042963
is_a: HP:0002017 ! Nausea and vomiting

[Term]
id: HP:0002014
name: Diarrhea
def: "Abnormally increased frequency of loose or watery bowel movements." [HPO:probinson]
synonym: "Diarrhea" EXACT layperson []
synonym: "Diarrhoea" EXACT HP:0045076 []
synonym: "Watery stool" EXACT layperson []
xref: MSH:D003967
xref: SNOMEDCT_US:267060006
xref: SNOMEDCT_US:62315008
xref: UMLS:C0011991
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002015
name: Dysphagia
alt_id: HP:0002569
def: "Difficulty in swallowing." [HPO:probinson]
subset: hposlim_core
synonym: "Deglutition disorder" RELATED []
synonym: "Poor swallowing" EXACT layperson []
synonym: "Swallowing difficulties" EXACT layperson []
synonym: "Swallowing difficulty" EXACT layperson []
xref: MEDDRA:10013950 "Dysphagia"
xref: MSH:D003680
xref: SNOMEDCT_US:288939007
xref: SNOMEDCT_US:40739000
xref: UMLS:C0011168
is_a: HP:0012638 ! Abnormality of nervous system physiology
is_a: HP:0025270 ! Abnormality of esophagus physiology

[Term]
id: HP:0002017
name: Nausea and vomiting
synonym: "Nausea and vomiting" EXACT layperson []
xref: SNOMEDCT_US:16932000
xref: UMLS:C0027498
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002018
name: Nausea
def: "A sensation of unease in the stomach together with an urge to vomit." [HPO:probinson]
subset: hposlim_core
synonym: "Nausea" EXACT layperson []
xref: MEDDRA:10028813 "Nausea"
xref: MSH:D009325
xref: SNOMEDCT_US:422587007
xref: UMLS:C0027497
is_a: HP:0002017 ! Nausea and vomiting

[Term]
id: HP:0002019
name: Constipation
alt_id: HP:0002241
alt_id: HP:0003786
def: "Infrequent or difficult evacuation of feces." [HPO:probinson]
synonym: "Constipation" EXACT layperson []
synonym: "Costiveness" EXACT []
synonym: "Dyschezia" EXACT []
xref: MSH:D003248
xref: SNOMEDCT_US:14760008
xref: SNOMEDCT_US:225595004
xref: UMLS:C0009806
xref: UMLS:C0237326
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002020
name: Gastroesophageal reflux
alt_id: HP:0004793
def: "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson]
subset: hposlim_core
synonym: "Acid reflux" EXACT layperson []
synonym: "Acid reflux disease" EXACT layperson []
synonym: "Gastroesophageal reflux disease" EXACT []
synonym: "GERD" EXACT HP:0045077 [HPO:skoehler]
synonym: "Heartburn" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D005764
xref: MSH:D006356
xref: SNOMEDCT_US:16331000
xref: SNOMEDCT_US:235595009
xref: SNOMEDCT_US:698065002
xref: UMLS:C0017168
xref: UMLS:C0018834
is_a: HP:0002577 ! Abnormality of the stomach
is_a: HP:0025270 ! Abnormality of esophagus physiology

[Term]
id: HP:0002021
name: Pyloric stenosis
def: "An abnormal narrowing of the pylorus." [HPO:probinson]
comment: Pyloric stenosis occurs in the first few months of life.
subset: hposlim_core
xref: Fyler:4444
xref: MEDDRA:10037621 "Pyloric stenosis"
xref: MSH:D011707
xref: SNOMEDCT_US:367403001
xref: UMLS:C0034194
is_a: HP:0004400 ! Abnormality of the pylorus

[Term]
id: HP:0002023
name: Anal atresia
alt_id: HP:0001550
def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson]
subset: hposlim_core
synonym: "Absent anus" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Imperforate anus" RELATED []
xref: Fyler:4402
xref: Fyler:4443
xref: MEDDRA:10002120 "Anal atresia"
xref: MSH:D001006
xref: SNOMEDCT_US:204712000
xref: SNOMEDCT_US:204731006
xref: UMLS:C0003466
is_a: HP:0004378 ! Abnormality of the anus

[Term]
id: HP:0002024
name: Malabsorption
alt_id: HP:0008270
def: "Impaired ability to absorb one or more nutrients from the intestine." [HPO:probinson]
synonym: "Intestinal malabsorption" EXACT layperson []
synonym: "Malabsorption" EXACT layperson []
xref: UMLS:C3714745
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002025
name: Anal stenosis
def: "Abnormal narrowing of the anal opening." [HPO:probinson]
subset: hposlim_core
synonym: "Narrowing of anal opening" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MEDDRA:10002176 "Anal stenosis"
xref: SNOMEDCT_US:250037002
xref: SNOMEDCT_US:69914001
xref: UMLS:C0262374
is_a: HP:0004378 ! Abnormality of the anus

[Term]
id: HP:0002027
name: Abdominal pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [HPO:probinson]
comment: Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain.
subset: hposlim_core
synonym: "Abdominal discomfort" RELATED layperson []
synonym: "Abdominal pain" EXACT layperson []
synonym: "Gastro pain" BROAD layperson []
synonym: "Gastrointestinal pain" BROAD layperson []
synonym: "Pain in stomach" EXACT layperson []
synonym: "Stomach pain" EXACT layperson [ORCID:0000-0002-0736-9199]
synonym: "Upset stomach" RELATED layperson [ORCID:0000-0001-6439-2224]
xref: MEDDRA:10000081 "Abdominal pain"
xref: MSH:D015746
xref: SNOMEDCT_US:21522001
xref: UMLS:C0000737
is_a: HP:0011458 ! Abdominal symptom
is_a: HP:0012531 ! Pain

[Term]
id: HP:0002028
name: Chronic diarrhea
def: "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [HPO:probinson]
synonym: "Chronic diarrhea" EXACT layperson []
synonym: "Diarrhea, recurrent" RELATED layperson [HPO:skoehler]
synonym: "Recurrent diarrhea" RELATED layperson [HPO:skoehler]
xref: SNOMEDCT_US:236071009
xref: UMLS:C0401151
is_a: HP:0002014 ! Diarrhea

[Term]
id: HP:0002031
name: Abnormal esophagus morphology
def: "A structural abnormality of the esophagus." [HPO:probinson]
synonym: "Abnormality of esophagus morphology" EXACT layperson []
synonym: "Anomaly of the esophagus" EXACT []
xref: SNOMEDCT_US:69771008
xref: UMLS:C0266126
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract

[Term]
id: HP:0002032
name: Esophageal atresia
def: "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators]
synonym: "Birth defect in which part of esophagus did not develop" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:4412
xref: MSH:D004933
xref: SNOMEDCT_US:26179002
xref: UMLS:C0014850
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0002589 ! Gastrointestinal atresia

[Term]
id: HP:0002033
name: Poor suck
def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators]
synonym: "Poor suck" EXACT layperson []
synonym: "Poor sucking" EXACT layperson [HPO:skoehler]
xref: UMLS:C1837142
is_a: HP:0008872 ! Feeding difficulties in infancy

[Term]
id: HP:0002034
name: Abnormality of the rectum
def: "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus." [HPO:probinson]
synonym: "Abnormality of the rectum" EXACT layperson []
synonym: "Anomaly of the rectum" EXACT layperson []
xref: SNOMEDCT_US:86993003
xref: UMLS:C0266210
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0012732 ! Anorectal anomaly

[Term]
id: HP:0002035
name: Rectal prolapse
def: "Protrusion of the rectal mucous membrane through the anus." [HPO:probinson]
subset: hposlim_core
synonym: "Rectal prolapsed" RELATED [HPO:skoehler]
synonym: "Rectum protrudes through anus" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MEDDRA:10038077 "Rectal prolapse"
xref: MSH:D012005
xref: SNOMEDCT_US:57773001
xref: UMLS:C0034888
is_a: HP:0002034 ! Abnormality of the rectum

[Term]
id: HP:0002036
name: Hiatus hernia
def: "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [HPO:probinson]
comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn).
subset: hposlim_core
synonym: "Hiatal hernia" EXACT []
synonym: "Stomach hernia" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MEDDRA:10020028 "Hiatus hernia"
xref: MSH:D006551
xref: SNOMEDCT_US:84089009
xref: UMLS:C3489393
is_a: HP:0002577 ! Abnormality of the stomach
is_a: HP:0100790 ! Hernia
created_by: peter
creation_date: 2008-02-20T11:28:00Z

[Term]
id: HP:0002037
name: Inflammation of the large intestine
def: "Inflammation, or an inflammatory state in the large intestine." []
synonym: "Inflammation of the large intestine" EXACT layperson []
synonym: "Inflammatory bowel disease" RELATED layperson []
xref: MSH:D015212
xref: SNOMEDCT_US:24526004
xref: SNOMEDCT_US:302168000
xref: UMLS:C0021390
xref: UMLS:C0578878
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0004386 ! Gastrointestinal inflammation

[Term]
id: HP:0002038
name: Protein avoidance
xref: UMLS:C1839531
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002039
name: Anorexia
def: "A lack or loss of appetite for food (as a medical condition)." [HPO:probinson]
comment: Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat).
synonym: "Anorexia" EXACT layperson []
xref: MSH:D000855
xref: SNOMEDCT_US:79890006
xref: UMLS:C0003123
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0002040
name: Esophageal varix
def: "Extreme dilation of the submucusoal veins in the lower portion of the esophagus." [HPO:probinson]
comment: Esophageal varices are most often a consequence of portal hypertension.
subset: hposlim_core
synonym: "Enlarged vein in esophagus" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Esophageal varices" RELATED []
xref: MEDDRA:10056091 "Varices oesophageal"
xref: MSH:D004932
xref: SNOMEDCT_US:28670008
xref: UMLS:C0014867
is_a: HP:0002031 ! Abnormal esophagus morphology

[Term]
id: HP:0002041
name: Intractable diarrhea
xref: UMLS:C0743178
is_a: HP:0002014 ! Diarrhea

[Term]
id: HP:0002043
name: Esophageal stricture
def: "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [HPO:probinson]
comment: Gastroesophageal reflux is a common cause of esophageal stricture.
synonym: "Narrowing of esophagus due to inflammation and scar tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D004940
xref: SNOMEDCT_US:63305008
xref: UMLS:C0014866
is_a: HP:0010450 ! Esophageal stenosis

[Term]
id: HP:0002044
name: Zollinger-Ellison syndrome
def: "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration." [HPO:probinson]
comment: Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1.
subset: hposlim_core
xref: MEDDRA:10048281 "Zollinger-Ellison syndrome"
xref: MSH:D015043
xref: SNOMEDCT_US:53132006
xref: UMLS:C0043515
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0002045
name: Hypothermia
def: "Reduced body temperature due to failed thermoregulation." [HPO:sdoelken]
comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F).
synonym: "Abnormally low body temperature" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypothermia" EXACT layperson []
xref: MSH:D007035
xref: SNOMEDCT_US:386689009
xref: UMLS:C0020672
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0002046
name: Heat intolerance
def: "The inability to maintain a comfortably body temperature in warm or hot weather." [HPO:probinson]
comment: Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis.
subset: hposlim_core
synonym: "Heat intolerance" EXACT layperson []
synonym: "Intolerance to heat and fevers" EXACT layperson []
xref: SNOMEDCT_US:69215007
xref: UMLS:C0231274
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0002047
name: Malignant hyperthermia
alt_id: HP:0004896
def: "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators]
synonym: "Malignant hyperthermia with anesthesia" EXACT []
xref: MSH:D008305
xref: SNOMEDCT_US:213026003
xref: SNOMEDCT_US:405501007
xref: UMLS:C0024591
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0002048
name: Renal cortical atrophy
def: "Atrophy of the cortex of the kidney." [HPO:probinson]
xref: UMLS:C4025730
is_a: HP:0011035 ! Abnormal renal cortex morphology
is_a: HP:0012585 ! Renal atrophy

[Term]
id: HP:0002049
name: Proximal renal tubular acidosis
def: "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia." [HPO:probinson]
synonym: "Proximal tubular acidosis" EXACT []
synonym: "Renal tubular acidosis, proximal" EXACT []
synonym: "Renal tubular acidosis, type II" EXACT []
xref: MSH:D000141
xref: SNOMEDCT_US:24790002
xref: UMLS:C0268435
is_a: HP:0001947 ! Renal tubular acidosis

[Term]
id: HP:0002050
name: Macroorchidism, postpubertal
xref: UMLS:C1839782
is_a: HP:0000053 ! Macroorchidism

[Term]
id: HP:0002054
name: Heavy supraorbital ridges
synonym: "Heavy brow of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Heavy supraorbital ridge" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1845107
is_a: HP:0000336 ! Prominent supraorbital ridges

[Term]
id: HP:0002055
name: Curved linear dimple below the lower lip
xref: UMLS:C1844572
is_a: HP:0000178 ! Abnormality of lower lip

[Term]
id: HP:0002056
name: Abnormality of the glabella
def: "An abnormality of the glabella." [HPO:probinson]
synonym: "Abnormality of the area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the area between the eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Glabellar abnormality" EXACT []
synonym: "Malformation of the area between the eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021763
is_a: HP:0000290 ! Abnormality of the forehead

[Term]
id: HP:0002057
name: Prominent glabella
def: "Forward protrusion of the glabella." [HPO:probinson, pmid:19125436]
comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.
subset: hposlim_core
synonym: "Convex glabella" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of glabella" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Protruding area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1860247
is_a: HP:0002056 ! Abnormality of the glabella

[Term]
id: HP:0002058
name: Myopathic facies
alt_id: HP:0004647
def: "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators]
synonym: "Myopathic face" EXACT []
synonym: "Myopathic facial appearance" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:26432009
xref: UMLS:C0332615
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0002059
name: Cerebral atrophy
alt_id: HP:0002422
alt_id: HP:0006890
def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [HPO:sdoelken]
comment: Atrophy may be progressive over time.
synonym: "Degeneration of cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Supratentorial atrophy" RELATED []
xref: SNOMEDCT_US:278849000
xref: SNOMEDCT_US:418143002
xref: SNOMEDCT_US:52522001
xref: UMLS:C0154671
xref: UMLS:C0235946
xref: UMLS:C4020860
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum

[Term]
id: HP:0002060
name: Abnormality of the cerebrum
def: "An abnormality of the telencephalon, which is also known as the cerebrum." [HPO:probinson]
synonym: "Abnormality of the telencephalon" EXACT []
xref: UMLS:C4021762
is_a: HP:0100547 ! Abnormality of forebrain morphology

[Term]
id: HP:0002061
name: Lower limb spasticity
def: "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis" [HPO:probinson, UKT:rschuele]
xref: SNOMEDCT_US:394679006
xref: UMLS:C1271100
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002062
name: Morphological abnormality of the pyramidal tract
alt_id: HP:0012445
def: "Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators]
comment: The pyramidal tracts comprise both the corticospinal and corticobulbar tracts.
synonym: "Abnormality of the pyramidal tracts" EXACT []
synonym: "Pyramidal tract disease" RELATED []
xref: UMLS:C4020859
xref: UMLS:C4021761
is_a: HP:0002011 ! Morphological abnormality of the central nervous system

[Term]
id: HP:0002063
name: Rigidity
def: "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [HPO:probinson]
comment: Rigidity is often a manifestation of basal ganglia diseases.
synonym: "Muscle rigidity" EXACT layperson []
synonym: "Rigidity" EXACT layperson []
xref: MSH:D009127
xref: SNOMEDCT_US:16046003
xref: UMLS:C0026837
is_a: HP:0011442 ! Abnormality of central motor function

[Term]
id: HP:0002064
name: Spastic gait
def: "Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg." [PMID:25649546]
synonym: "Spastic walk" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020233
xref: SNOMEDCT_US:9447003
xref: UMLS:C0231687
is_a: HP:0001257 ! Spasticity
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002066
name: Gait ataxia
alt_id: HP:0002379
def: "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO:probinson, UKT:rschuele]
synonym: "Ataxia of gait" EXACT []
synonym: "Ataxic gait" EXACT []
synonym: "Inability to coordinate movements when walking" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D020234
xref: SNOMEDCT_US:25136009
xref: UMLS:C0751837
is_a: HP:0001251 ! Ataxia
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002067
name: Bradykinesia
def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:probinson]
synonym: "Slow movements" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Slowness of movements" EXACT layperson []
xref: MSH:D018476
xref: SNOMEDCT_US:399317006
xref: UMLS:C0233565
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0002068
name: Neuromuscular dysphagia
xref: UMLS:C4025729
is_a: HP:0002015 ! Dysphagia

[Term]
id: HP:0002069
name: Generalized tonic-clonic seizures
alt_id: HP:0001306
alt_id: HP:0002407
alt_id: HP:0007252
def: "Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena." [HPO:curators]
comment: In a generalized tonic-clonic seizure, the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure.
synonym: "Generalised tonic-clonic seizures" EXACT []
synonym: "Generalized clonic-tonic seizures" EXACT []
synonym: "Generalized tonic clonic seizures" EXACT []
synonym: "Grand mal seizures" EXACT layperson []
synonym: "Seizures, generalized tonic-clonic" EXACT []
synonym: "Seizures, generalized, tonic-clonic" EXACT []
synonym: "Seizures, tonic-clonic" EXACT []
synonym: "Tonic-clonic convulsion" EXACT [HPO:skoehler]
synonym: "Tonic-clonic convulsions" EXACT [HPO:skoehler]
xref: MSH:D012640
xref: SNOMEDCT_US:54200006
xref: UMLS:C0494475
is_a: HP:0002197 ! Generalized-onset seizure

[Term]
id: HP:0002070
name: Limb ataxia
def: "A kind of ataxia that affects movements of the extremities." [HPO:probinson]
comment: Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways.
synonym: "Appendicular ataxia" EXACT []
xref: MSH:D001259
xref: UMLS:C0750937
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002071
name: Abnormality of extrapyramidal motor function
alt_id: HP:0006810
alt_id: HP:0007113
def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [HPO:probinson]
comment: The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed.
synonym: "Extrapyramidal dysfunction" EXACT []
synonym: "Extrapyramidal signs" EXACT []
synonym: "Extrapyramidal symptoms" EXACT []
synonym: "Extrapyramidal syndrome" EXACT []
synonym: "Extrapyramidal tract signs" EXACT []
xref: MSH:D001480
xref: SNOMEDCT_US:43378000
xref: SNOMEDCT_US:76349003
xref: UMLS:C0015371
xref: UMLS:C0234133
is_a: HP:0011442 ! Abnormality of central motor function

[Term]
id: HP:0002072
name: Chorea
alt_id: HP:0002397
def: "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities." [HPO:probinson, PMID:20589866]
synonym: "Choreatic disease" RELATED []
synonym: "Choreic movements" EXACT []
synonym: "Choreiform movements" EXACT []
xref: MSH:D002819
xref: SNOMEDCT_US:271700006
xref: UMLS:C0008489
xref: UMLS:C4020858
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0002073
name: Progressive cerebellar ataxia
alt_id: HP:0001329
alt_id: HP:0002496
alt_id: HP:0007331
synonym: "Cerebellar ataxia, progressive" EXACT []
synonym: "Progressive ataxia" EXACT []
xref: SNOMEDCT_US:230233000
xref: UMLS:C0393525
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002074
name: Increased neuronal autofluorescent lipopigment
def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:11406682]
synonym: "Neuronal lipopigments" RELATED []
xref: UMLS:C4020857
xref: UMLS:C4025728
is_a: HP:0011813 ! Increased cerebral lipofuscin

[Term]
id: HP:0002075
name: Dysdiadochokinesis
alt_id: HP:0002426
def: "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO:probinson, HPO:zaferyueksel, UKB:tklockgether]
comment: Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion.
synonym: "Difficulty performing quick and alternating movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Dysdiadochokinesia" EXACT []
xref: SNOMEDCT_US:23133003
xref: UMLS:C0234979
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002076
name: Migraine
alt_id: HP:0007194
def: "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [HPO:probinson, pmid:15304572]
synonym: "Intermittent migraine headaches" EXACT layperson []
synonym: "Migraine" EXACT layperson []
synonym: "Migraine headache" EXACT layperson []
synonym: "Migraine headaches" EXACT layperson []
xref: MSH:D008881
xref: SNOMEDCT_US:37796009
xref: UMLS:C0149931
xref: UMLS:C0744641
is_a: HP:0002315 ! Headache

[Term]
id: HP:0002077
name: Migraine with aura
def: "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." [HPO:probinson, pmid:15304572]
xref: MSH:D020325
xref: SNOMEDCT_US:4473006
xref: UMLS:C0154723
is_a: HP:0002076 ! Migraine

[Term]
id: HP:0002078
name: Truncal ataxia
alt_id: HP:0007014
def: "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting." [HPO:probinson, UKT:rschuele]
comment: Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support.
synonym: "Instability or lack of coordination of central trunk muscles" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Trunk ataxia" EXACT []
xref: MSH:D001259
xref: SNOMEDCT_US:250067008
xref: UMLS:C0427190
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002079
name: Hypoplasia of the corpus callosum
alt_id: HP:0002319
alt_id: HP:0007026
def: "Underdevelopment of the corpus callosum." [HPO:probinson, pmid:21263138]
comment: The corpus callosum appears thin in midline views of the brain in neuroradiological images.
synonym: "Corpus callosum hypoplasia" EXACT []
synonym: "Hypoplasia of corpus callosum" EXACT []
synonym: "Hypoplastic corpus callosum" EXACT []
synonym: "Small corpus callosum" EXACT []
synonym: "Thin corpus callosum" EXACT []
synonym: "Thinning of the corpus callosum" EXACT []
synonym: "Underdevelopment of part of brain called corpus callosum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:204043002
xref: UMLS:C0344482
is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum

[Term]
id: HP:0002080
name: Intention tremor
def: "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [HPO:probinson, pmid:16344298]
synonym: "Cerebellar tremor" RELATED []
synonym: "Terminal tremor" RELATED []
xref: MSH:D014202
xref: SNOMEDCT_US:30721006
xref: UMLS:C0234376
xref: UMLS:C4020856
is_a: HP:0030186 ! Kinetic tremor

[Term]
id: HP:0002083
name: Migraine without aura
def: "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia." [HPO:probinson, pmid:15304572]
comment: The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis.
xref: MSH:D020326
xref: SNOMEDCT_US:56097005
xref: UMLS:C0338480
is_a: HP:0002076 ! Migraine

[Term]
id: HP:0002084
name: Encephalocele
alt_id: HP:0002736
alt_id: HP:0100664
def: "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [HPO:probinson]
comment: A congenital gap in the skull that usually results in a protrusion of brain material.
synonym: "Bifid skull" EXACT []
synonym: "Cranium bifidum" EXACT []
xref: MSH:D004677
xref: SNOMEDCT_US:253101008
xref: SNOMEDCT_US:48777005
xref: SNOMEDCT_US:55999004
xref: UMLS:C0014065
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
is_a: HP:0011815 ! Cephalocele

[Term]
id: HP:0002085
name: Occipital encephalocele
alt_id: HP:0007051
alt_id: HP:0007357
def: "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp." [DDD:awilkie, HPO:probinson]
synonym: "Brain tissue sticks out through back of skull" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Occipital meningoencephalocele" EXACT []
synonym: "Posterior encephalocele" EXACT []
xref: MSH:D004677
xref: SNOMEDCT_US:42376006
xref: UMLS:C0014067
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0002086
name: Abnormality of the respiratory system
def: "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [HPO:probinson]
synonym: "Respiratory abnormality" EXACT []
xref: UMLS:C4018871
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0002087
name: Abnormality of the upper respiratory tract
def: "An abnormality of the upper respiratory tract." [HPO:probinson]
synonym: "Abnormality of the upper respiratory tract" EXACT layperson []
synonym: "Upper respiratory tract issues" EXACT layperson []
xref: UMLS:C4025727
is_a: HP:0012252 ! Abnormal respiratory system morphology

[Term]
id: HP:0002088
name: Abnormal lung morphology
def: "Any structural anomaly of the lung." [HPO:probinson]
synonym: "Abnormality of lung morphology" EXACT layperson []
synonym: "Abnormality of the lungs" EXACT layperson []
synonym: "Abnormally shaped lung" EXACT layperson []
synonym: "Lung disease" RELATED layperson []
synonym: "Unusal lung shape" EXACT layperson []
xref: MSH:D008171
xref: SNOMEDCT_US:19829001
xref: UMLS:C0024115
xref: UMLS:C4021760
is_a: HP:0012252 ! Abnormal respiratory system morphology

[Term]
id: HP:0002089
name: Pulmonary hypoplasia
synonym: "Hypoplastic lung" EXACT []
synonym: "Hypoplastic lungs" EXACT []
synonym: "Lung hypoplasia" EXACT []
synonym: "Small lung" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped lung" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:80825009
xref: UMLS:C0265783
is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs

[Term]
id: HP:0002090
name: Pneumonia
def: "Inflammation of any part of the lung parenchyma." [HPO:probinson]
synonym: "Pneumonia" EXACT layperson []
xref: MSH:D011014
xref: SNOMEDCT_US:233604007
xref: UMLS:C0032285
is_a: HP:0011947 ! Respiratory tract infection
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0002091
name: Restrictive ventilatory defect
def: "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus." []
comment: The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity.
synonym: "Restrictive lung disease" RELATED [ORCID:0000-0001-5208-3432]
synonym: "Stiff lung or chest wall causing decreased lung volume" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: SNOMEDCT_US:36485005
xref: UMLS:C0085581
xref: UMLS:C3277226
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0002092
name: Pulmonary arterial hypertension
alt_id: HP:0006546
def: "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position." [HPO:probinson]
comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used.
synonym: "Increased blood pressure in blood vessels of lungs" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Primary pulmonary hypertension" RELATED [HPO:skoehler]
synonym: "Pulmonary artery hypertension" EXACT []
xref: MSH:D006976
xref: MSH:D065627
xref: SNOMEDCT_US:11399002
xref: SNOMEDCT_US:697898008
xref: SNOMEDCT_US:70995007
xref: UMLS:C0020542
xref: UMLS:C2973725
xref: UMLS:C3203102
is_a: HP:0004890 ! Elevated pulmonary artery pressure

[Term]
id: HP:0002093
name: Respiratory insufficiency
alt_id: HP:0004893
alt_id: HP:0005937
alt_id: HP:0006542
synonym: "progressive respiratory failure" EXACT []
synonym: "Respiratory function loss" RELATED layperson []
synonym: "Respiratory impairment" EXACT layperson []
xref: MSH:D012131
xref: SNOMEDCT_US:409623005
xref: UMLS:C0035229
xref: UMLS:C4020855
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0002094
name: Dyspnea
def: "Difficult or labored breathing." [HPO:probinson]
synonym: "Trouble breathing" EXACT layperson []
xref: MSH:D004417
xref: SNOMEDCT_US:230145002
xref: SNOMEDCT_US:267036007
xref: UMLS:C0013404
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0002097
name: Emphysema
alt_id: HP:0006534
synonym: "Pulmonary emphysema" EXACT []
xref: MSH:D011656
xref: SNOMEDCT_US:87433001
xref: UMLS:C0034067
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0002098
name: Respiratory distress
alt_id: HP:0002880
def: "Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." []
synonym: "Breathing difficulties" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Difficulty breathing" EXACT layperson []
synonym: "Respiratory difficulties" EXACT []
synonym: "Short of breath" RELATED layperson []
synonym: "Shortness of breath" RELATED layperson []
xref: MSH:D004417
xref: SNOMEDCT_US:230145002
xref: SNOMEDCT_US:267036007
xref: SNOMEDCT_US:271825005
xref: UMLS:C0013404
xref: UMLS:C0476273
is_a: HP:0002094 ! Dyspnea

[Term]
id: HP:0002099
name: Asthma
alt_id: HP:0002112
def: "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:probinson]
synonym: "Asthma" EXACT layperson []
synonym: "Bronchial asthma" EXACT []
synonym: "Reactive airway disease" RELATED []
xref: MSH:D001249
xref: SNOMEDCT_US:195967001
xref: SNOMEDCT_US:991000119106
xref: UMLS:C0004096
xref: UMLS:C3714497
is_a: HP:0002795 ! Functional respiratory abnormality
is_a: HP:0100326 ! Immunologic hypersensitivity

[Term]
id: HP:0002100
name: Recurrent aspiration pneumonia
alt_id: HP:0002106
def: "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia." [HPO:probinson]
xref: SNOMEDCT_US:430969000
xref: UMLS:C0747651
is_a: HP:0011951 ! Aspiration pneumonia

[Term]
id: HP:0002101
name: Abnormal lung lobation
alt_id: HP:0006525
alt_id: HP:0009753
def: "Defects in the formation of pulmonary lobules." [HPO:probinson]
synonym: "Defective lung lobation" EXACT []
synonym: "Lung segmentation defects" EXACT []
xref: SNOMEDCT_US:91842005
xref: UMLS:C0685695
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0002102
name: Pleuritis
def: "Inflammation of the pleura." [HPO:sdoelken]
synonym: "Inflammation of tissues lining lungs and chest" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Pleurisy" EXACT [HPO:sdoelken]
xref: MSH:D010998
xref: SNOMEDCT_US:196075003
xref: UMLS:C0032231
is_a: HP:0002103 ! Abnormality of the pleura

[Term]
id: HP:0002103
name: Abnormality of the pleura
def: "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [HPO:probinson]
xref: UMLS:C4025726
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0002104
name: Apnea
alt_id: HP:0005936
alt_id: HP:0005958
def: "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
synonym: "Absence of spontaneous respiration" EXACT []
synonym: "Apneic episodes" EXACT []
synonym: "Apnoea" EXACT []
xref: MSH:D001049
xref: SNOMEDCT_US:1023001
xref: SNOMEDCT_US:248583008
xref: UMLS:C0003578
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002105
name: Hemoptysis
def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:probinson]
synonym: "Coughing up blood" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Coughing up blood or blood-stained mucus" RELATED layperson []
synonym: "Haemoptysis" EXACT HP:0045076 []
xref: MSH:D006469
xref: SNOMEDCT_US:66857006
xref: SNOMEDCT_US:6686005
xref: UMLS:C0019079
is_a: HP:0032016 ! Abnormal sputum

[Term]
id: HP:0002107
name: Pneumothorax
def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [HPO:probinson]
synonym: "Collapsed lung" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D011030
xref: SNOMEDCT_US:36118008
xref: UMLS:C0032326
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0002108
name: Spontaneous pneumothorax
def: "Pneumothorax occurring without traumatic injury to the chest or lung." [HPO:probinson]
synonym: "Spontaneous collapsed lung" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D011030
xref: SNOMEDCT_US:80423007
xref: UMLS:C0149781
is_a: HP:0002107 ! Pneumothorax

[Term]
id: HP:0002109
name: obsolete Abnormality of the bronchi
is_obsolete: true
replaced_by: HP:0025426

[Term]
id: HP:0002110
name: Bronchiectasis
def: "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [HPO:probinson]
synonym: "Permanent enlargement of the airways of the lungs" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: MSH:D001987
xref: SNOMEDCT_US:12295008
xref: UMLS:C0006267
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0002111
name: Restrictive deficit on pulmonary function testing
def: "FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent." [NIHR:ldaugherty]
synonym: "Restrictive deficit on pulmonary function tests" EXACT []
synonym: "Restrictive respiratory disease" EXACT []
synonym: "Restrictive respiratory insufficiency'" EXACT []
synonym: "Restrictive respiratory syndrome" EXACT []
xref: UMLS:C1609528
is_a: HP:0002091 ! Restrictive ventilatory defect
is_a: HP:0002093 ! Respiratory insufficiency
is_a: HP:0032340 ! Abnormal spirometry test

[Term]
id: HP:0002113
name: Pulmonary infiltrates
synonym: "Lung infiltrates" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Pulmonic infiltration" EXACT []
xref: UMLS:C0235896
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0002118
name: Abnormality of the cerebral ventricles
def: "Abnormality of the cerebral ventricles." [HPO:probinson]
xref: UMLS:C4025724
is_a: HP:0012443 ! Abnormality of brain morphology

[Term]
id: HP:0002119
name: Ventriculomegaly
alt_id: HP:0002447
alt_id: HP:0005691
alt_id: HP:0007071
def: "An increase in size of the ventricular system of the brain." [HPO:probinson]
synonym: "Cerebral ventricular dilatation" EXACT []
synonym: "Dilated cerebral ventricle" EXACT []
synonym: "Dilated cerebral ventricles" EXACT []
synonym: "Dilated ventricles" EXACT []
synonym: "Enlarged cerebral ventricles" EXACT []
synonym: "Enlarged ventricles" EXACT []
synonym: "Enlarged ventricular system" EXACT []
synonym: "Large cerebral ventricles and cisternae" EXACT []
synonym: "Ventricular dilatation" EXACT []
xref: UMLS:C3278923
is_a: HP:0002118 ! Abnormality of the cerebral ventricles

[Term]
id: HP:0002120
name: Cerebral cortical atrophy
alt_id: HP:0006823
alt_id: HP:0006835
def: "Atrophy of the cortex of the cerebrum." [HPO:probinson]
comment: Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging.
synonym: "Cerebral cortex atrophy" EXACT []
synonym: "Cortical atrophy" EXACT []
synonym: "Decrease in size of the outer layer of the brain due to loss of brain cells" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:278849000
xref: UMLS:C0235946
is_a: HP:0002059 ! Cerebral atrophy

[Term]
id: HP:0002121
name: Absence seizure
alt_id: HP:0007143
alt_id: HP:0011148
def: "Absence seizures present with a sudden cessation of activity and awareness. Absence seizures tend to occur in younger age groups, have more sudden start and termination, and they usually display less complex automatisms than do focal seizures with impaired awareness, but the distinctions are not absolute." [HPO:probinson, PMID:28276062, PMID:28276064]
synonym: "Absence seizures" EXACT HP:0045078 []
synonym: "Brief seizures with staring spells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Petit mal seizure" EXACT []
synonym: "Petit mal seizures" EXACT HP:0045078 []
xref: MSH:D004832
xref: SNOMEDCT_US:230413002
xref: SNOMEDCT_US:432241000124101
xref: SNOMEDCT_US:50866000
xref: SNOMEDCT_US:79631006
xref: UMLS:C0014553
is_a: HP:0002197 ! Generalized-onset seizure

[Term]
id: HP:0002123
name: Generalized myoclonic seizures
alt_id: HP:0006869
alt_id: HP:0006902
alt_id: HP:0007075
alt_id: HP:0007202
alt_id: HP:0007284
alt_id: HP:0007294
def: "Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal)." [HPO:jalbers]
synonym: "Myoclonic epilepsy, progressive" RELATED []
synonym: "Myoclonic seizures" BROAD []
synonym: "Myoclonus seizures" EXACT []
xref: MSH:D004831
xref: MSH:D020191
xref: SNOMEDCT_US:192992007
xref: SNOMEDCT_US:267581004
xref: SNOMEDCT_US:37356005
xref: UMLS:C0014550
xref: UMLS:C0751778
xref: UMLS:C4021759
is_a: HP:0002197 ! Generalized-onset seizure

[Term]
id: HP:0002126
name: Polymicrogyria
def: "Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [COST:neuromig, HPO:probinson, PMID:24888723]
comment: Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination.
synonym: "More grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D065706
xref: SNOMEDCT_US:4945003
xref: UMLS:C0266464
is_a: HP:0002536 ! Abnormal cortical gyration

[Term]
id: HP:0002127
name: Abnormal upper motor neuron morphology
def: "Any structural anomaly that affects the upper motor neuron." []
comment: previous def: 'has part' some \n(quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal))
synonym: "Abnormal shape of upper motor neuron" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025723
is_a: HP:0002450 ! Abnormal motor neuron morphology

[Term]
id: HP:0002131
name: Episodic ataxia
alt_id: HP:0006862
alt_id: HP:0007152
alt_id: HP:0007214
def: "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\n" [HPO:probinson]
synonym: "Intermittent cerebellar ataxia" EXACT []
synonym: "Paroxysmal ataxia" EXACT []
xref: MSH:C580065
xref: SNOMEDCT_US:421455009
xref: UMLS:C1720189
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002132
name: Porencephalic cyst
def: "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system." [HPO:probinson, PMID:9279052]
comment: Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies.
synonym: "Cavity within brain" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D065708
xref: UMLS:C4082173
is_a: HP:0002060 ! Abnormality of the cerebrum

[Term]
id: HP:0002133
name: Status epilepticus
def: "Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures." [HPO:jalbers]
synonym: "Repeated seizures without recovery between them" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D013226
xref: SNOMEDCT_US:230456007
xref: UMLS:C0038220
is_a: HP:0001250 ! Seizures

[Term]
id: HP:0002134
name: Abnormality of the basal ganglia
alt_id: HP:0006952
alt_id: HP:0007257
def: "Abnormality of the basal ganglia." [HPO:probinson]
comment: The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal.
synonym: "Anomaly of the basal ganglia" EXACT []
synonym: "Basal ganglia disease" EXACT []
xref: MSH:D001480
xref: SNOMEDCT_US:70835005
xref: UMLS:C0004782
is_a: HP:0010993 ! Abnormality of the cerebral subcortex

[Term]
id: HP:0002135
name: Basal ganglia calcification
alt_id: HP:0002485
def: "The presence of calcium deposition affecting one or more structures of the basal ganglia." [HPO:probinson]
synonym: "Basal ganglia calcifications" EXACT []
synonym: "Basal ganglion calcification" EXACT []
synonym: "Calcification of the basal ganglia" EXACT []
xref: UMLS:C1389280
is_a: HP:0002134 ! Abnormality of the basal ganglia
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0002136
name: Broad-based gait
def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators]
synonym: "Broad based gait" EXACT []
synonym: "Wide based gait" EXACT []
synonym: "Wide based walk" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide-based gait" EXACT []
xref: UMLS:C0856863
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002138
name: Subarachnoid hemorrhage
def: "Hemorrhage occurring between the arachnoid mater and the pia mater." [HPO:sdoelken]
comment: Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury.
synonym: "Subarachnoid haemorrhage" EXACT []
xref: MSH:D013345
xref: SNOMEDCT_US:21454007
xref: UMLS:C0038525
is_a: HP:0002170 ! Intracranial hemorrhage
is_a: HP:0012703 ! Abnormal subarachnoid space morphology

[Term]
id: HP:0002139
name: Arrhinencephaly
xref: MSH:D016142
xref: UMLS:C0078982
is_a: HP:0002323 ! Anencephaly

[Term]
id: HP:0002140
name: Ischemic stroke
xref: SNOMEDCT_US:422504002
xref: UMLS:C0948008
is_a: HP:0001297 ! Stroke
is_a: HP:0002637 ! Cerebral ischemia

[Term]
id: HP:0002141
name: Gait imbalance
alt_id: HP:0100683
synonym: "Abnormality of balance" EXACT layperson []
synonym: "Abnormality of equilibrium" EXACT layperson []
synonym: "Imbalanced walk" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836150
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002143
name: Abnormality of the spinal cord
def: "An abnormality of the spinal cord (myelon)." [HPO:probinson]
synonym: "Abnormality of the spinal cord" EXACT layperson []
synonym: "Spinal cord disease" RELATED layperson []
synonym: "Spinal cord pathology" RELATED []
xref: MSH:D013118
xref: SNOMEDCT_US:48522003
xref: UMLS:C0037928
xref: UMLS:C4025722
is_a: HP:0002011 ! Morphological abnormality of the central nervous system

[Term]
id: HP:0002144
name: Tethered cord
def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators]
synonym: "Occult spinal dysraphism" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D009436
xref: SNOMEDCT_US:70534000
xref: UMLS:C0080218
is_a: HP:0031938 ! Abnormal conus terminalis morphology

[Term]
id: HP:0002145
name: Frontotemporal dementia
def: "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders." [HPO:probinson, pmid:24966676]
xref: MSH:D057180
xref: SNOMEDCT_US:230270009
xref: UMLS:C0338451
is_a: HP:0000726 ! Dementia

[Term]
id: HP:0002148
name: Hypophosphatemia
def: "An abnormally decreased phosphate concentration in the blood." [HPO:gcarletti]
synonym: "Hypophosphataemia" EXACT []
synonym: "Low blood phosphate level" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D017674
xref: SNOMEDCT_US:4996001
xref: UMLS:C0085682
is_a: HP:0100529 ! Abnormal blood phosphate concentration

[Term]
id: HP:0002149
name: Hyperuricemia
def: "An abnormally high level of uric acid in the blood." [HPO:probinson]
synonym: "High blood uric acid level" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hyperuricaemia" EXACT []
xref: MSH:D033461
xref: SNOMEDCT_US:35885006
xref: UMLS:C0740394
is_a: HP:0002157 ! Azotemia
is_a: HP:0004368 ! Increased purine level

[Term]
id: HP:0002150
name: Hypercalciuria
synonym: "Elevated urine calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypercalcinuria" EXACT []
xref: MSH:D053565
xref: SNOMEDCT_US:71938000
xref: UMLS:C0020438
is_a: HP:0011280 ! Abnormality of urine calcium concentration

[Term]
id: HP:0002151
name: Increased serum lactate
alt_id: HP:0003638
def: "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35)." [HPO:probinson, PMID:24079682]
synonym: "Higher than normal levels of lactate in blood" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Increased blood lactate" EXACT []
xref: UMLS:C1836440
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0002152
name: Hyperproteinemia
def: "An increased concentration of proteins in the blood." [HPO:gcarletti]
xref: SNOMEDCT_US:37064009
xref: UMLS:C0267988
is_a: HP:0010876 ! Abnormal circulating protein level

[Term]
id: HP:0002153
name: Hyperkalemia
def: "An abnormally increased potassium concentration in the blood." [HPO:probinson]
synonym: "Elevated serum potassium levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006947
xref: SNOMEDCT_US:14140009
xref: SNOMEDCT_US:166689004
xref: SNOMEDCT_US:238142003
xref: UMLS:C0020461
is_a: HP:0011042 ! Abnormal blood potassium concentration

[Term]
id: HP:0002154
name: Hyperglycinemia
def: "An elevated concentration of glycine in the blood." [HPO:gcarletti, pmid:16902722, pmid:4696900]
comment: Normal blood glycine levels are around 200-250 micromole per liter.
synonym: "Elevated blood glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hyperglycinaemia" EXACT []
xref: SNOMEDCT_US:64654004
xref: UMLS:C0268559
is_a: HP:0010895 ! Abnormal circulating glycine concentration

[Term]
id: HP:0002155
name: Hypertriglyceridemia
alt_id: HP:0003082
alt_id: HP:0008174
alt_id: HP:0008332
def: "An abnormal increase in the level of triglycerides in the blood." [HPO:probinson]
synonym: "Increased circulating Tg levels" EXACT HP:0045077 []
synonym: "Increased plasma Tg levels" EXACT HP:0045077 []
synonym: "Increased plasma triglycerides" EXACT layperson []
synonym: "Increased serum triglycerides" EXACT layperson []
synonym: "Increased triglycerides" EXACT layperson []
xref: UMLS:C1522137
is_a: HP:0003077 ! Hyperlipidemia

[Term]
id: HP:0002156
name: Homocystinuria
def: "An increased concentration of homocystine in the urine." [HPO:gcarletti]
comment: Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency.
synonym: "High urine homocystine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006712
xref: SNOMEDCT_US:11282001
xref: UMLS:C0019880
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0002157
name: Azotemia
def: "An increased concentration of nitrogen compounds in the blood." [HPO:gcarletti]
comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine.
synonym: "Azotaemia" EXACT []
xref: MSH:D053099
xref: SNOMEDCT_US:445009001
xref: UMLS:C0242528
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration

[Term]
id: HP:0002159
name: Heparan sulfate excretion in urine
def: "An increased concentration of heparan sulfates in the urine." [HPO:probinson]
xref: UMLS:C1854827
is_a: HP:0008155 ! Mucopolysacchariduria

[Term]
id: HP:0002160
name: Hyperhomocystinemia
def: "An increased concentration of homocystine in the blood." [HPO:gcarletti]
comment: Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine).\nHyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar.
synonym: "Elevated blood homocystine" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Homocystinemia" EXACT []
xref: UMLS:C3806347
is_a: HP:0010919 ! Abnormal circulating homocysteine concentration

[Term]
id: HP:0002161
name: Hyperlysinemia
def: "An increased concentration of lysine in the blood." [HPO:gcarletti, pmid:4696900]
comment: Normal blood lysine levels are around 180-200 micromole per liter.
synonym: "Elevated blood lysine" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020167
xref: SNOMEDCT_US:58558003
xref: UMLS:C0268553
is_a: HP:0010908 ! Abnormal circulating lysine concentration

[Term]
id: HP:0002162
name: Low posterior hairline
def: "Hair on the neck extends more inferiorly than usual." [pmid:19125436]
comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately.
subset: hposlim_core
synonym: "Low hairline at back of neck" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Low posterior hair line" EXACT []
xref: UMLS:C1855728
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0030141 ! Abnormality of the posterior hairline

[Term]
id: HP:0002164
name: Nail dysplasia
alt_id: HP:0001793
alt_id: HP:0001794
alt_id: HP:0001797
alt_id: HP:0008387
alt_id: HP:0008403
alt_id: HP:0008409
alt_id: HP:0008412
def: "The presence of developmental dysplasia of the nail." [HPO:probinson]
synonym: "Atypical nail growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Dysplastic nails" EXACT []
synonym: "Onychodysplasia" EXACT []
xref: UMLS:C1834405
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0002165
name: Pterygium of nails
def: "Inward advance of skin over the nail plate." [HPO:probinson]
xref: SNOMEDCT_US:110987009
xref: UMLS:C0406438
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0002166
name: Impaired vibration sensation in the lower limbs
def: "A decrease in the ability to perceive vibration in the legs." [HPO:curators]
synonym: "Decreased lower limb vibratory sense" EXACT layperson []
synonym: "Decreased vibratory sense in lower limbs" EXACT layperson []
synonym: "Decreased vibratory sense in the lower extremities" EXACT layperson []
synonym: "Decreased vibratory sense in the lower limbs" EXACT layperson []
synonym: "Diminished vibratory sensation in the legs" EXACT layperson []
synonym: "Distal sensory loss, especially vibratory sense" EXACT []
synonym: "Distal vibratory impairment of the lower limbs" EXACT []
synonym: "Impaired vibration sensation in the lower limbs" EXACT layperson []
xref: UMLS:C1849134
is_a: HP:0002495 ! Impaired vibratory sensation

[Term]
id: HP:0002167
name: Neurological speech impairment
synonym: "Speech disorder" EXACT layperson []
synonym: "Speech impairment" EXACT layperson []
synonym: "Speech impediment" EXACT layperson []
xref: MSH:D013064
xref: UMLS:C0037822
is_a: HP:0011446 ! Abnormality of higher mental function

[Term]
id: HP:0002168
name: Scanning speech
synonym: "Explosive speech" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:102935005
xref: SNOMEDCT_US:77420001
xref: UMLS:C0278184
xref: UMLS:C0522198
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002169
name: Clonus
def: "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [HPO:probinson]
comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal.
synonym: "Involuntary rhythmic muscular contractions and relaxations" EXACT [http://purl.obolibrary.org/obo/hp.owl#layperson, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:36649002
xref: UMLS:C0009024
is_a: HP:0001347 ! Hyperreflexia
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0002170
name: Intracranial hemorrhage
def: "Hemorrhage occurring within the skull." [HPO:gcarletti]
synonym: "Bleeding within the skull" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020300
xref: SNOMEDCT_US:1386000
xref: UMLS:C0151699
is_a: HP:0011029 ! Internal hemorrhage
is_a: HP:0100659 ! Abnormality of the cerebral vasculature

[Term]
id: HP:0002171
name: Gliosis
def: "Gliosis is the focal proliferation of glial cells in the central nervous system." [HPO:sdoelken]
comment: Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury.
synonym: "Cerebral gliosis" EXACT []
synonym: "Excess astrocytes in brain" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D005911
xref: SNOMEDCT_US:359580009
xref: SNOMEDCT_US:81415000
xref: UMLS:C0017639
is_a: HP:0100705 ! Abnormality of the glial cells

[Term]
id: HP:0002172
name: Postural instability
def: "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps." [PMID:25613349]
synonym: "Abnormal retropulsion test" RELATED []
synonym: "Balance impairment" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Imbalance" RELATED []
xref: UMLS:C1843921
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002173
name: Hypoglycemic seizures
xref: UMLS:C0877056
is_a: HP:0001943 ! Hypoglycemia
is_a: HP:0011145 ! Symptomatic seizures

[Term]
id: HP:0002174
name: Postural tremor
alt_id: HP:0006925
alt_id: HP:0007197
def: "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:probinson]
synonym: "Tremor, postural" RELATED [HPO:skoehler]
xref: MSH:D014202
xref: SNOMEDCT_US:56610005
xref: UMLS:C0234378
is_a: HP:0002345 ! Action tremor

[Term]
id: HP:0002176
name: Spinal cord compression
def: "External mechanical compression of the spinal cord." [HPO:probinson]
comment: Clinical abnormalities vary according to the site of the compression\nany may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors.
synonym: "Pressure on spinal cord" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D013117
xref: SNOMEDCT_US:71286001
xref: UMLS:C0037926
is_a: HP:0002143 ! Abnormality of the spinal cord

[Term]
id: HP:0002179
name: Opisthotonus
comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. {xref="PMID:29972427"}
synonym: "Opisthotonos" EXACT []
xref: SNOMEDCT_US:8652009
xref: UMLS:C0151818
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002180
name: Neurodegeneration
def: "Progressive loss of neural cells and tissue." [HPO:probinson]
synonym: "Neuro-degenerative disease" RELATED []
synonym: "Neurodegenerative disease" RELATED []
synonym: "Ongoing loss of nerve cells" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Progressive neurodegenerative disorder" RELATED []
xref: MSH:D009410
xref: MSH:D019636
xref: UMLS:C0027746
xref: UMLS:C0524851
xref: UMLS:C4020854
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system

[Term]
id: HP:0002181
name: Cerebral edema
def: "Abnormal accumulation of fluid in the brain." [HPO:probinson]
comment: Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging.
synonym: "Brain edema" EXACT []
synonym: "Brain oedema" EXACT []
synonym: "Brain swelling" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Swelling of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D001929
xref: SNOMEDCT_US:2032001
xref: UMLS:C0006114
xref: UMLS:C1527311
is_a: HP:0000969 ! Edema
is_a: HP:0002060 ! Abnormality of the cerebrum

[Term]
id: HP:0002183
name: Phonophobia
def: "An abnormally heightened sensitivity to loud sounds." [HPO:probinson]
comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest.
synonym: "Fear of loud sounds" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012001
xref: SNOMEDCT_US:313387002
xref: UMLS:C0751466
is_a: HP:0025112 ! Sound sensitivity

[Term]
id: HP:0002185
name: Neurofibrillary tangles
alt_id: HP:0003132
alt_id: HP:0007070
def: "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [HPO:sdoelken]
synonym: "Neurofibrillary tangles composed of disordered microtubules in neurons" EXACT []
synonym: "Paired helical filaments" EXACT []
xref: MSH:D016874
xref: SNOMEDCT_US:85775002
xref: UMLS:C0085400
is_a: HP:0100314 ! Cerebral inclusion bodies

[Term]
id: HP:0002186
name: Apraxia
def: "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:probinson]
synonym: "Apraxias" RELATED []
xref: MSH:D001072
xref: SNOMEDCT_US:68345001
xref: SNOMEDCT_US:6950007
xref: UMLS:C0003635
is_a: HP:0011442 ! Abnormality of central motor function
is_a: HP:0011446 ! Abnormality of higher mental function

[Term]
id: HP:0002187
name: Intellectual disability, profound
def: "Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:probinson]
comment: Persons with profound mental retardation generally require constant care.
synonym: "IQ less than 20" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability]
synonym: "Mental retardation, profound" EXACT []
synonym: "Profound mental retardation" EXACT []
xref: MSH:D008607
xref: SNOMEDCT_US:31216003
xref: UMLS:C0020796
xref: UMLS:C3161330
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0002188
name: Delayed CNS myelination
alt_id: HP:0005770
alt_id: HP:0006974
alt_id: HP:0007300
def: "Delayed myelination in the central nervous system." [HPO:probinson]
comment: A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood.
synonym: "Delay in central nervous system myelination" EXACT []
xref: UMLS:C4021758
is_a: HP:0011400 ! Abnormal CNS myelination
is_a: HP:0012448 ! Delayed myelination

[Term]
id: HP:0002189
name: Excessive daytime sleepiness
synonym: "Excessive daytime sleepiness" EXACT layperson []
xref: UMLS:C0694563
is_a: HP:0002360 ! Sleep disturbance
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0002190
name: Choroid plexus cyst
def: "A cyst occurring within the choroid plexus within a cerebral ventricle." [HPO:probinson]
comment: Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18.
xref: SNOMEDCT_US:230790004
xref: UMLS:C0338597
is_a: HP:0007376 ! Abnormality of the choroid plexus

[Term]
id: HP:0002191
name: Progressive spasticity
def: "Spasticity that increases in degree with time." [HPO:probinson]
synonym: "Spasticity, progressive" EXACT []
xref: UMLS:C1859520
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002193
name: Pseudobulbar behavioral symptoms
def: "Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken]
xref: UMLS:C4025720
is_a: HP:0000708 ! Behavioral abnormality
is_a: HP:0002200 ! Pseudobulbar signs

[Term]
id: HP:0002194
name: Delayed gross motor development
alt_id: HP:0006905
alt_id: HP:0007046
alt_id: HP:0008973
def: "A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [HPO:probinson]
synonym: "Delayed gross motor skills" EXACT []
synonym: "Delayed motor skills" EXACT layperson []
synonym: "Developmental delay, gross motor" EXACT []
synonym: "Gross motor delay" EXACT []
synonym: "Limited gross motor development" EXACT []
xref: SNOMEDCT_US:430099007
xref: UMLS:C1837658
is_a: HP:0001270 ! Motor delay

[Term]
id: HP:0002195
name: Dysgenesis of the cerebellar vermis
def: "Defective development of the vermis of cerebellum." [HPO:probinson]
comment: Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography.
xref: UMLS:C4025719
is_a: HP:0002334 ! Abnormality of the cerebellar vermis

[Term]
id: HP:0002196
name: Myelopathy
xref: MSH:D013118
xref: SNOMEDCT_US:48522003
xref: UMLS:C0037928
is_a: HP:0002143 ! Abnormality of the spinal cord

[Term]
id: HP:0002197
name: Generalized-onset seizure
alt_id: HP:0002409
alt_id: HP:0007114
alt_id: HP:0007339
def: "Seizures of with initial involvement of both cerebral hemispheres." [HPO:probinson]
comment: Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic.
synonym: "Generalized seizures" EXACT HP:0045078 []
synonym: "Generalized-onset seizures" EXACT HP:0045078 []
xref: MSH:D012640
xref: SNOMEDCT_US:246545002
xref: UMLS:C0234533
xref: UMLS:C1833488
is_a: HP:0001250 ! Seizures

[Term]
id: HP:0002198
name: Dilated fourth ventricle
alt_id: HP:0007223
def: "An abnormal dilatation of the fourth cerebral ventricle." [HPO:probinson]
synonym: "Enlarged fourth ventricle" EXACT []
xref: UMLS:C1847117
is_a: HP:0002119 ! Ventriculomegaly
is_a: HP:0010950 ! Abnormality of the fourth ventricle

[Term]
id: HP:0002199
name: Hypocalcemic seizures
synonym: "Low calcium seizures" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Seizures due to hypocalcemia" EXACT []
xref: UMLS:C1855841
is_a: HP:0002901 ! Hypocalcemia
is_a: HP:0011145 ! Symptomatic seizures

[Term]
id: HP:0002200
name: Pseudobulbar signs
def: "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken]
synonym: "Pseudobulbar symptoms" EXACT []
xref: UMLS:C1838579
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0002202
name: Pleural effusion
def: "The presence of an excessive amount of fluid in the pleural cavity." [HPO:probinson]
synonym: "Fluid around lungs" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D010996
xref: SNOMEDCT_US:60046008
xref: UMLS:C0032227
is_a: HP:0000969 ! Edema
is_a: HP:0002103 ! Abnormality of the pleura

[Term]
id: HP:0002203
name: Respiratory paralysis
def: "Inability to move the muscles of respiration." [HPO:probinson]
xref: MSH:D012133
xref: SNOMEDCT_US:64228003
xref: UMLS:C0035232
is_a: HP:0003470 ! Paralysis
is_a: HP:0004347 ! Weakness of muscles of respiration

[Term]
id: HP:0002204
name: Pulmonary embolism
def: "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." []
synonym: "Blood clot in artery of lung" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D011655
xref: SNOMEDCT_US:59282003
xref: UMLS:C0034065
is_a: HP:0030875 ! Abnormality of pulmonary circulation

[Term]
id: HP:0002205
name: Recurrent respiratory infections
alt_id: HP:0002782
alt_id: HP:0002873
def: "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson]
synonym: "Frequent respiratory infections" EXACT layperson []
synonym: "Multiple respiratory infections" EXACT layperson []
synonym: "Recurrent respiratory infections" EXACT layperson []
synonym: "respiratory infections, recurrent" EXACT layperson [HPO:skoehler]
synonym: "Susceptibility to respiratory infections" EXACT layperson []
xref: UMLS:C3806482
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0011947 ! Respiratory tract infection

[Term]
id: HP:0002206
name: Pulmonary fibrosis
alt_id: HP:0006523
def: "Replacement of normal lung tissues by fibroblasts and collagen." [DDD:tkuijpers, HPO:probinson]
comment: Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer.
xref: MSH:D011658
xref: SNOMEDCT_US:51615001
xref: UMLS:C0034069
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0002207
name: Diffuse reticular or finely nodular infiltrations
xref: UMLS:C1843428
is_a: HP:0002113 ! Pulmonary infiltrates

[Term]
id: HP:0002208
name: Coarse hair
alt_id: HP:0200078
def: "Hair shafts are rough in texture." [HPO:probinson]
subset: hposlim_core
synonym: "Coarse hair" EXACT layperson []
synonym: "Coarse hair texture" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Rough hair texture" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:48610005
xref: UMLS:C0277959
xref: UMLS:C4072834
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002209
name: Sparse scalp hair
alt_id: HP:0002233
alt_id: HP:0002556
alt_id: HP:0004534
alt_id: HP:0004541
alt_id: HP:0004542
alt_id: HP:0004772
alt_id: HP:0004774
alt_id: HP:0004775
def: "Decreased number of head hairs per unit area." [pmid:19125436]
comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist.
synonym: "Scalp hair, thinning" EXACT layperson []
synonym: "Sparse scalp hair" EXACT layperson []
synonym: "Sparse, thin scalp hair" EXACT layperson []
synonym: "sparse-absent scalp hair" EXACT layperson []
synonym: "Thin scalp hair" RELATED layperson []
xref: UMLS:C1857042
is_a: HP:0008070 ! Sparse hair
is_a: HP:0100037 ! Abnormality of the scalp hair

[Term]
id: HP:0002211
name: White forelock
def: "A triangular depigmented region of white hairs located in the anterior midline of the scalp." [DDD:probinson]
subset: hposlim_core
synonym: "Poliosis of anterior hair" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Poliosis of forelock hair" EXACT [ORCID:0000-0001-5889-4463]
synonym: "White part of hair above forehead" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: SNOMEDCT_US:247564004
xref: UMLS:C0344312
is_a: HP:0011365 ! Patchy hypopigmentation of hair

[Term]
id: HP:0002212
name: Curly hair
synonym: "Curly hair" EXACT layperson []
xref: SNOMEDCT_US:225570000
xref: UMLS:C0558165
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002213
name: Fine hair
alt_id: HP:0200132
def: "Hair that is fine or thin to the touch." [HPO:probinson]
subset: hposlim_core
synonym: "Fine hair" EXACT layperson []
synonym: "Fine hair shaft" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Fine hair texture" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin hair" EXACT []
synonym: "Thin hair shaft" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin hair texture" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thinned hair" EXACT []
xref: SNOMEDCT_US:247546006
xref: UMLS:C0423867
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002215
name: Sparse axillary hair
alt_id: HP:0004514
alt_id: HP:0004518
alt_id: HP:0004545
def: "Reduced number or density of axillary hair." [HPO:probinson]
synonym: "Limited armpit hair" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Little underarm hair" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Sparse axillary and pubic hair" EXACT []
synonym: "Sparse scalp, axillary, and pubic hair" EXACT []
synonym: "sparse to absent axillary hair" EXACT []
xref: UMLS:C1858574
is_a: HP:0008070 ! Sparse hair
is_a: HP:0100134 ! Abnormality of the axillary hair

[Term]
id: HP:0002216
name: Premature graying of hair
def: "Development of gray hair at a younger than normal age." [HPO:probinson]
subset: hposlim_core
synonym: "Early graying" EXACT layperson []
synonym: "Premature graying" EXACT layperson []
synonym: "Premature graying of hair" EXACT layperson []
synonym: "Premature graying of the hair" RELATED layperson [HPO:skoehler]
synonym: "Premature greying" EXACT layperson []
synonym: "Premature hair graying" EXACT layperson []
xref: SNOMEDCT_US:387833009
xref: UMLS:C0263498
is_a: HP:0007495 ! Prematurely aged appearance
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002217
name: Slow-growing hair
alt_id: HP:0004767
alt_id: HP:0004770
alt_id: HP:0004781
def: "Hair whose growth is slower than normal." [HPO:probinson]
subset: hposlim_core
synonym: "Slow growing hair" EXACT layperson []
synonym: "Slow rate of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Slow speed of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Slow-growing hair" EXACT layperson []
xref: UMLS:C1832348
is_a: HP:0011363 ! Abnormality of hair growth rate

[Term]
id: HP:0002218
name: Silver-gray hair
def: "Hypopigmented hair that appears silver-gray." [HPO:probinson]
synonym: "Silver-gray hair" EXACT layperson []
synonym: "Silver-gray hair color" EXACT layperson []
synonym: "Silvery-gray hair" EXACT layperson []
xref: UMLS:C1836576
is_a: HP:0011358 ! Generalized hypopigmentation of hair

[Term]
id: HP:0002219
name: Facial hypertrichosis
def: "Excessive, increased hair growth located in the facial region." []
synonym: "Increased facial hair growth" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C565029
xref: UMLS:C1851400
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0002220
name: Melanin pigment aggregation in hair shafts
xref: UMLS:C1843390
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002221
name: Absent axillary hair
alt_id: HP:0004549
def: "Absence of axillary hair." [HPO:probinson]
xref: UMLS:C1859392
is_a: HP:0002298 ! Absent hair
is_a: HP:0100134 ! Abnormality of the axillary hair

[Term]
id: HP:0002223
name: Absent eyebrow
def: "Absence of the eyebrow." [HPO:probinson]
subset: hposlim_core
synonym: "Absent eyebrow" EXACT layperson []
synonym: "Absent eyebrows" EXACT []
synonym: "Agenesis of eyebrows" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of eyebrows" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Loss of eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:253208007
xref: SNOMEDCT_US:422441003
xref: UMLS:C0431448
xref: UMLS:C0578682
xref: UMLS:C4280581
xref: UMLS:C4280582
is_a: HP:0002298 ! Absent hair
is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow

[Term]
id: HP:0002224
name: Woolly hair
subset: hposlim_core
synonym: "Afro-textured hair" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Kinked hair" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Kinky hair texture" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Nappy hair texture" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: MEDDRA:10048017 "Wooly hair"
xref: SNOMEDCT_US:52564001
xref: UMLS:C0343073
xref: UMLS:C4072835
xref: UMLS:C4072836
xref: UMLS:C4073292
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002225
name: Sparse pubic hair
alt_id: HP:0004778
def: "Reduced number or density of pubic hair." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased sexual hair" EXACT layperson []
synonym: "Sparse pubic hair" EXACT layperson []
synonym: "sparse to absent pubic hair" EXACT []
xref: UMLS:C1858573
is_a: HP:0008070 ! Sparse hair
is_a: HP:0100133 ! Abnormality of the pubic hair

[Term]
id: HP:0002226
name: White eyebrow
alt_id: HP:0002228
alt_id: HP:0004536
def: "White color (lack of pigmentation) of the eyebrow." [HPO:probinson]
subset: hposlim_core
synonym: "Blonde eyebrow" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Depigmented eyebrow" EXACT []
synonym: "Grey eyebrow" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypopigmented eyebrow" EXACT []
synonym: "Pale eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "White eyebrow" EXACT layperson []
xref: UMLS:C1836737
xref: UMLS:C4280579
xref: UMLS:C4280580
is_a: HP:0000534 ! Abnormal eyebrow morphology
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002227
name: White eyelashes
def: "White color (lack of pigmentation) of the eyelashes." [DDD:cmoss]
synonym: "Blonde eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Depigmented eyelashes" EXACT []
synonym: "Grey eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Pale eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "White eyelashes" EXACT layperson []
xref: UMLS:C1836736
xref: UMLS:C4280578
is_a: HP:0000499 ! Abnormal eyelash morphology
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002229
name: Alopecia areata
def: "Loss of round patches of scalp hair." [HPO:probinson]
comment: In alopecia areata, round bald patches can appear suddenly.
xref: MSH:D000506
xref: SNOMEDCT_US:68225006
xref: UMLS:C0002171
is_a: HP:0001596 ! Alopecia
is_a: HP:0011360 ! Acquired abnormal hair pattern

[Term]
id: HP:0002230
name: Generalized hirsutism
def: "Abnormally increased hair growth over much of the entire body." [HPO:curators]
synonym: "Excessive hairiness over body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1849211
is_a: HP:0001007 ! Hirsutism

[Term]
id: HP:0002231
name: Sparse body hair
def: "Sparseness of the body hair." [HPO:probinson]
subset: hposlim_core
synonym: "Sparse body hair" EXACT layperson []
xref: UMLS:C1862863
is_a: HP:0008070 ! Sparse hair

[Term]
id: HP:0002232
name: Patchy alopecia
xref: MSH:C531609
xref: UMLS:C1862862
is_a: HP:0001596 ! Alopecia

[Term]
id: HP:0002234
name: Early balding
def: "Loss of scalp hair at an earlier than normal age." [HPO:probinson]
synonym: "Early balding" EXACT layperson []
xref: UMLS:C4025718
is_a: HP:0011360 ! Acquired abnormal hair pattern

[Term]
id: HP:0002235
name: Pili canaliculi
alt_id: HP:0002285
def: "Uncombable hair." [HPO:probinson]
xref: UMLS:C1860608
is_a: HP:0003328 ! Abnormal hair laboratory examination

[Term]
id: HP:0002236
name: Frontal upsweep of hair
def: "Upward and/or sideward growth of anterior hair." [pmid:19125436]
subset: hposlim_core
synonym: "Cowlick" EXACT layperson []
synonym: "Frontal Cowlick" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Frontal upsweep of hair" EXACT layperson []
synonym: "Upswept frontal hair" EXACT layperson []
synonym: "Upswept frontal hair pattern" RELATED layperson [HPO:skoehler]
synonym: "Upswept frontal hairline" RELATED layperson [HPO:skoehler]
xref: UMLS:C1185616
xref: UMLS:C2675540
xref: UMLS:C3275754
is_a: HP:0010721 ! Abnormal hair whorl

[Term]
id: HP:0002239
name: Gastrointestinal hemorrhage
def: "Hemorrhage affecting the gastrointestinal tract." [HPO:probinson]
synonym: "Gastrointestinal bleeding" EXACT layperson []
synonym: "GI hemorrhage" EXACT HP:0045077 []
xref: MSH:D006471
xref: SNOMEDCT_US:74474003
xref: UMLS:C0017181
is_a: HP:0011029 ! Internal hemorrhage
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0002240
name: Hepatomegaly
alt_id: HP:0001393
alt_id: HP:0001398
def: "Abnormally increased size of the liver." [HPO:probinson]
synonym: "Enlarged liver" EXACT layperson []
xref: MSH:D006529
xref: SNOMEDCT_US:80515008
xref: UMLS:C0019209
is_a: HP:0003271 ! Visceromegaly
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0002242
name: Abnormal intestine morphology
alt_id: HP:0002628
def: "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." [HPO:probinson]
synonym: "Abnormality of the intestine" EXACT layperson []
synonym: "Enteropathy" EXACT []
xref: MSH:D007410
xref: SNOMEDCT_US:85919009
xref: UMLS:C0021831
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract

[Term]
id: HP:0002243
name: Protein-losing enteropathy
def: "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract." [HPO:probinson]
comment: Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins.
xref: MSH:D011504
xref: SNOMEDCT_US:22542007
xref: SNOMEDCT_US:66972006
xref: UMLS:C0033680
is_a: HP:0002244 ! Abnormality of the small intestine

[Term]
id: HP:0002244
name: Abnormality of the small intestine
def: "An abnormality of the small intestine." [HPO:probinson]
xref: UMLS:C4025717
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002245
name: Meckel diverticulum
def: "Meckel's diverticulum is a congenital diverticulum located in the distal ileum." [HPO:probinson]
xref: MEDDRA:10027055 "Meckel's diverticulum"
xref: MSH:D008467
xref: SNOMEDCT_US:127962001
xref: SNOMEDCT_US:37373007
xref: UMLS:C0025037
is_a: HP:0001549 ! Abnormal ileum morphology

[Term]
id: HP:0002246
name: Abnormality of the duodenum
def: "An abnormality of the duodenum, i.e., the first section of the small intestine." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4025716
is_a: HP:0002244 ! Abnormality of the small intestine

[Term]
id: HP:0002247
name: Duodenal atresia
def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:probinson]
subset: hposlim_core
synonym: "Absence or narrowing of first part of small bowel" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:4406
xref: MEDDRA:10013812 "Duodenal atresia"
xref: MSH:C535720
xref: SNOMEDCT_US:51118003
xref: UMLS:C0266174
is_a: HP:0002246 ! Abnormality of the duodenum
is_a: HP:0011100 ! Intestinal atresia

[Term]
id: HP:0002248
name: Hematemesis
def: "The vomiting of blood." [HPO:probinson]
comment: The source of hematemesis is generally the upper gastrointestinal tract.
synonym: "Vomitting blood" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006396
xref: SNOMEDCT_US:8765009
xref: UMLS:C0018926
is_a: HP:0002239 ! Gastrointestinal hemorrhage

[Term]
id: HP:0002249
name: Melena
def: "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [HPO:probinson]
synonym: "Black feces" NARROW layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D008551
xref: SNOMEDCT_US:249627005
xref: SNOMEDCT_US:267055007
xref: SNOMEDCT_US:269899009
xref: SNOMEDCT_US:2901004
xref: SNOMEDCT_US:35064005
xref: UMLS:C0025222
xref: UMLS:C0474585
is_a: HP:0002239 ! Gastrointestinal hemorrhage
is_a: HP:0025085 ! Bloody diarrhea

[Term]
id: HP:0002250
name: Abnormal large intestine morphology
def: "Any abnormality of the large intestine." [HPO:probinson]
comment: The large intestine comprises the cecum and colon.
synonym: "Abnormality of the large intestine" EXACT layperson []
xref: UMLS:C4025715
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002251
name: Aganglionic megacolon
alt_id: HP:0002029
alt_id: HP:0002030
alt_id: HP:0002606
alt_id: HP:0004391
def: "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:probinson, pmid:17965226]
comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract.
subset: hposlim_core
synonym: "Congenital megacolon" EXACT []
synonym: "Enlarged colon lacking nerve cells" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Hirschsprung disease" RELATED []
synonym: "Hirschsprung megacolon" EXACT []
synonym: "Megacolon" EXACT []
xref: MEDDRA:10027110 "Megacolon"
xref: MSH:D006627
xref: MSH:D008531
xref: SNOMEDCT_US:204739008
xref: SNOMEDCT_US:33995003
xref: SNOMEDCT_US:367495003
xref: UMLS:C0019569
xref: UMLS:C0025160
is_a: HP:0004362 ! Abnormality of enteric ganglion morphology

[Term]
id: HP:0002253
name: Colonic diverticula
alt_id: HP:0005860
def: "The presence of multiple diverticula of the colon." [HPO:probinson]
subset: hposlim_core
synonym: "Colon diverticula" RELATED []
synonym: "Colonic diverticulosis" EXACT []
xref: MEDDRA:10009993 "Colonic diverticulosis"
xref: MSH:D004241
xref: MSH:D043963
xref: SNOMEDCT_US:398050005
xref: UMLS:C0012811
xref: UMLS:C0012819
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0005222 ! Bowel diverticulosis

[Term]
id: HP:0002254
name: Intermittent diarrhea
xref: UMLS:C0239181
is_a: HP:0002014 ! Diarrhea

[Term]
id: HP:0002256
name: Small bowel diverticula
subset: hposlim_core
xref: MEDDRA:10013533 "Diverticula of small intestine"
xref: SNOMEDCT_US:8114009
xref: UMLS:C0267498
is_a: HP:0002244 ! Abnormality of the small intestine
is_a: HP:0005222 ! Bowel diverticulosis

[Term]
id: HP:0002257
name: Chronic rhinitis
def: "Chronic inflammation of the nasal mucosa." [HPO:probinson]
xref: SNOMEDCT_US:86094006
xref: UMLS:C0008711
is_a: HP:0012384 ! Rhinitis

[Term]
id: HP:0002263
name: Exaggerated cupid's bow
def: "More pronounced paramedian peaks and median notch of the Cupid's bow." [pmid:19125428]
comment: This may be associated with a Deep philtrum, but that finding should be coded separately.
subset: hposlim_core
synonym: "Cupid bow upper lip" EXACT layperson []
synonym: "Cupid's bow, accentuated" EXACT []
synonym: "Cupid-bow shaped upper lip" EXACT layperson []
synonym: "Exaggerated cupid's bow" EXACT layperson []
synonym: "Prominent cupid-bow of upper lip" EXACT layperson []
xref: UMLS:C1850629
is_a: HP:0011339 ! Abnormality of upper lip vermillion

[Term]
id: HP:0002265
name: Large fleshy ears
synonym: "Large fleshy ears" EXACT layperson []
xref: UMLS:C3808403
is_a: HP:0000400 ! Macrotia

[Term]
id: HP:0002266
name: Focal clonic seizures
synonym: "Localized clonic seizure" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Partial clonic seizure" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D020938
xref: UMLS:C0752323
is_a: HP:0011153 ! Focal motor seizure

[Term]
id: HP:0002267
name: Exaggerated startle response
def: "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators]
synonym: "Exaggerated acoustic startle response" EXACT []
synonym: "Hyperekplexia" RELATED []
synonym: "Increased startle response" EXACT []
xref: MSH:D000071017
xref: SNOMEDCT_US:19557000
xref: UMLS:C0234166
xref: UMLS:C1740801
xref: UMLS:C1836014
xref: UMLS:C1848918
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0002268
name: Paroxysmal dystonia
alt_id: HP:0002412
def: "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." [HPO:probinson]
synonym: "Episodic dystonia" EXACT []
xref: MSH:D004421
xref: SNOMEDCT_US:230310003
xref: UMLS:C0393588
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0002269
name: Abnormality of neuronal migration
alt_id: HP:0007317
def: "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [HPO:probinson]
synonym: "Abnormal neuronal migration" EXACT []
synonym: "Heterotopias/abnormal migration" EXACT []
synonym: "Migrational brain disorder" EXACT []
synonym: "Neuronal migration disorder" EXACT []
xref: MSH:D054081
xref: UMLS:C1837249
is_a: HP:0002011 ! Morphological abnormality of the central nervous system

[Term]
id: HP:0002270
name: Abnormality of the autonomic nervous system
def: "An abnormality of the autonomic nervous system." [HPO:probinson]
comment: The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness.
xref: UMLS:C4025714
is_a: HP:0410008 ! Abnormality of the peripheral nervous system

[Term]
id: HP:0002271
name: obsolete Autonomic dysregulation
is_obsolete: true
replaced_by: HP:0012332

[Term]
id: HP:0002273
name: Tetraparesis
alt_id: HP:0002338
def: "Weakness of all four limbs." [HPO:probinson]
comment: Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.
synonym: "Quadriparesis" EXACT []
xref: MSH:D011782
xref: SNOMEDCT_US:91327001
xref: UMLS:C0270790
is_a: HP:0030182 ! Tetraplegia/tetraparesis

[Term]
id: HP:0002275
name: Poor motor coordination
synonym: "Poor motor coordination" EXACT layperson []
xref: UMLS:C1848453
is_a: HP:0011443 ! Abnormality of coordination

[Term]
id: HP:0002277
name: Horner syndrome
alt_id: HP:0000596
def: "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection." [HPO:probinson]
comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva.
synonym: "Horner's syndrome" EXACT []
synonym: "Oculosympathetic palsy" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D006732
xref: SNOMEDCT_US:12731000
xref: SNOMEDCT_US:192915005
xref: SNOMEDCT_US:271730003
xref: UMLS:C0019937
is_a: HP:0000508 ! Ptosis
is_a: HP:0000616 ! Miosis
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology

[Term]
id: HP:0002280
name: Enlarged cisterna magna
def: "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata." [HPO:probinson]
comment: Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture.
synonym: "Large cisterna magna" EXACT []
synonym: "Mega cisterna magna" RELATED []
xref: UMLS:C1853377
is_a: HP:0002119 ! Ventriculomegaly

[Term]
id: HP:0002281
name: obsolete Gray matter heterotopias
is_obsolete: true
replaced_by: HP:0002282

[Term]
id: HP:0002282
name: Gray matter heterotopia
alt_id: HP:0002281
alt_id: HP:0007314
def: "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter." [COST:neuromig, ORCID:0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438]
comment: Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation.
comment: Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used.
synonym: "Gray matter heterotopias" EXACT HP:0045078 []
synonym: "Grey matter heterotopia" EXACT HP:0045076 []
synonym: "Heterotopia" EXACT []
synonym: "Heterotopias" EXACT HP:0045078 []
synonym: "Neuronal heterotopia" EXACT []
xref: MSH:D002828
xref: SNOMEDCT_US:128490007
xref: SNOMEDCT_US:416286003
xref: SNOMEDCT_US:417338002
xref: UMLS:C0008519
is_a: HP:0002269 ! Abnormality of neuronal migration

[Term]
id: HP:0002283
name: Global brain atrophy
alt_id: HP:0002369
alt_id: HP:0002462
def: "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size." [HPO:sdoelken]
comment: Global brain atrophy can be visualized and quantified by magnetic resonance imaging.
synonym: "Diffuse brain atrophy" EXACT []
synonym: "Generalized brain atrophy" EXACT []
synonym: "Generalized brain degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Generalized cerebral atrophy" EXACT []
xref: UMLS:C0241816
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0012444 ! Brain atrophy

[Term]
id: HP:0002286
name: Fair hair
alt_id: HP:0002214
alt_id: HP:0002294
def: "A lesser degree of hair pigmentation than would otherwise be expected." [DDD:cmoss]
comment: For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives.
synonym: "Blond hair" EXACT layperson []
synonym: "Fair hair" EXACT layperson []
synonym: "Fair hair color" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flaxen hair color" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Light colored hair" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Sandy hair color" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Straw colored hair" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Towhead (hair color)" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:297995004
xref: UMLS:C0239801
xref: UMLS:C1849221
is_a: HP:0011358 ! Generalized hypopigmentation of hair

[Term]
id: HP:0002287
name: Progressive alopecia
def: "Progressive loss of hair." [HPO:probinson]
xref: UMLS:C1851885
is_a: HP:0001596 ! Alopecia

[Term]
id: HP:0002289
name: Alopecia universalis
alt_id: HP:0004550
def: "Loss of all hair on the entire body." [HPO:probinson]
synonym: "Alopecia, complete" EXACT []
synonym: "Universal alopecia" RELATED []
xref: MSH:C537055
xref: SNOMEDCT_US:86166000
xref: UMLS:C0263505
is_a: HP:0001596 ! Alopecia

[Term]
id: HP:0002290
name: Poliosis
def: "Circumscribed depigmentation of the hair of the head or the eyelashes." [HPO:probinson]
synonym: "Patch of white hair" EXACT layperson []
synonym: "White patch" EXACT layperson []
xref: SNOMEDCT_US:14240001
xref: UMLS:C0221262
is_a: HP:0011365 ! Patchy hypopigmentation of hair

[Term]
id: HP:0002292
name: Frontal balding
def: "Absence of hair in the anterior midline and/or parietal areas." [pmid:19125436]
subset: hposlim_core
synonym: "Frontal balding" EXACT layperson []
synonym: "Male pattern baldness" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D000505
xref: SNOMEDCT_US:87872006
xref: UMLS:C1864584
xref: UMLS:C4083212
is_a: HP:0011360 ! Acquired abnormal hair pattern

[Term]
id: HP:0002293
name: Alopecia of scalp
alt_id: HP:0200115
synonym: "Absence of scalp hair" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Baldness" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing scalp hair" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Pathologic hair loss from scalp" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Scalp hair loss" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D000505
xref: SNOMEDCT_US:278040002
xref: SNOMEDCT_US:298000004
xref: SNOMEDCT_US:56317004
xref: UMLS:C0002170
xref: UMLS:C0574769
xref: UMLS:C1850535
is_a: HP:0001596 ! Alopecia
is_a: HP:0100037 ! Abnormality of the scalp hair

[Term]
id: HP:0002296
name: Progressive hypotrichosis
def: "Progressively reduced or lacking hair growth." [HPO:curators]
xref: UMLS:C1857048
is_a: HP:0001006 ! Hypotrichosis

[Term]
id: HP:0002297
name: Red hair
synonym: "Ginger hair color" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Red hair" EXACT layperson []
synonym: "Red hair color" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Red head (hair color)" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:297997007
xref: UMLS:C0239803
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0002298
name: Absent hair
alt_id: HP:0004548
synonym: "Absent hair" EXACT layperson []
xref: SNOMEDCT_US:297991008
xref: UMLS:C0574763
is_a: HP:0011362 ! Abnormal hair quantity

[Term]
id: HP:0002299
name: Brittle hair
def: "Fragile, easily breakable hair, i.e., with reduced tensile strength." [DDD:cmoss]
comment: Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia).
synonym: "Brittle hair" EXACT layperson []
synonym: "Easily breakable hair" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Fractured hair" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Fragile hair" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Reduced tensile strength of hair" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:25159003
xref: UMLS:C0263490
xref: UMLS:C1851868
xref: UMLS:C1970705
xref: UMLS:C4072837
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0002300
name: Mutism
synonym: "Inability to speak" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Muteness" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009155
xref: SNOMEDCT_US:88052002
xref: UMLS:C0026884
is_a: HP:0000708 ! Behavioral abnormality
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002301
name: Hemiplegia
def: "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
synonym: "Paralysis on one side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D006429
xref: SNOMEDCT_US:50582007
xref: UMLS:C0018991
is_a: HP:0004374 ! Hemiplegia/hemiparesis

[Term]
id: HP:0002304
name: Akinesia
def: "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [HPO:probinson]
comment: Akinesia is a typical extrapyramidal abnormality.
xref: SNOMEDCT_US:33994004
xref: UMLS:C0085623
is_a: HP:0002374 ! Diminished movement

[Term]
id: HP:0002305
name: Athetosis
alt_id: HP:0007167
alt_id: HP:0007316
def: "A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest." [HPO:probinson, PMID:20589866]
comment: Athetosis derives from the Greek word for 'changeable' or 'unfixed'.
synonym: "Athetoid movements" EXACT []
synonym: "Involuntary writhing movements" EXACT []
synonym: "Involuntary writhing movements in fingers, hands, toes, and feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D001264
xref: SNOMEDCT_US:44913001
xref: SNOMEDCT_US:58593005
xref: UMLS:C0004158
xref: UMLS:C1845265
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0002307
name: Drooling
def: "Habitual flow of saliva out of the mouth." [HPO:probinson, pmid:15202698]
synonym: "Dribbling" EXACT layperson []
synonym: "Drooling" EXACT layperson []
synonym: "Sialorrhea" EXACT [HPO:sdoelken]
xref: MSH:D012798
xref: SNOMEDCT_US:275295002
xref: SNOMEDCT_US:53827007
xref: SNOMEDCT_US:62718007
xref: UMLS:C0013132
xref: UMLS:C0037036
is_a: HP:0000708 ! Behavioral abnormality
is_a: HP:0003781 ! Excessive salivation

[Term]
id: HP:0002308
name: Arnold-Chiari malformation
def: "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators]
synonym: "Chiari malformation" EXACT []
xref: MSH:D001139
xref: SNOMEDCT_US:253184003
xref: UMLS:C0003803
is_a: HP:0002438 ! Cerebellar malformation

[Term]
id: HP:0002310
name: Orofacial dyskinesia
synonym: "Orofacial dyskinesias" EXACT []
xref: MSH:D020820
xref: SNOMEDCT_US:49386006
xref: UMLS:C0152115
is_a: HP:0100660 ! Dyskinesia

[Term]
id: HP:0002311
name: Incoordination
alt_id: HP:0002276
synonym: "Difficulties in coordination" EXACT layperson []
synonym: "Incoordination" EXACT layperson []
synonym: "Incoordination of limb movements" EXACT layperson []
synonym: "Limb incoordination" EXACT layperson []
xref: MSH:D001259
xref: SNOMEDCT_US:281016006
xref: SNOMEDCT_US:302289002
xref: UMLS:C0520966
is_a: HP:0011443 ! Abnormality of coordination

[Term]
id: HP:0002312
name: Clumsiness
def: "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [HPO:probinson]
synonym: "Clumsiness" EXACT layperson []
xref: SNOMEDCT_US:7006003
xref: UMLS:C0233844
is_a: HP:0002311 ! Incoordination

[Term]
id: HP:0002313
name: Spastic paraparesis
alt_id: HP:0007191
xref: MSH:D020336
xref: SNOMEDCT_US:312444006
xref: UMLS:C0037771
is_a: HP:0002061 ! Lower limb spasticity
is_a: HP:0002385 ! Paraparesis

[Term]
id: HP:0002314
name: Degeneration of the lateral corticospinal tracts
alt_id: HP:0007254
def: "Deterioration of the tissues of the lateral corticospinal tracts." [HPO:probinson]
synonym: "Degeneration of lateral corticospinal tracts" EXACT []
xref: UMLS:C1846566
is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts

[Term]
id: HP:0002315
name: Headache
alt_id: HP:0000266
alt_id: HP:0001354
def: "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, pmid:15304572]
comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition.
synonym: "Headache" EXACT layperson []
synonym: "Headaches" EXACT layperson []
xref: MSH:D006261
xref: SNOMEDCT_US:25064002
xref: UMLS:C0018681
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0002317
name: Unsteady gait
synonym: "Gait instability" EXACT []
synonym: "Unsteady walk" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020233
xref: SNOMEDCT_US:22631008
xref: SNOMEDCT_US:394616008
xref: UMLS:C0231686
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002318
name: Cervical myelopathy
xref: SNOMEDCT_US:202664003
xref: UMLS:C0149645
is_a: HP:0002196 ! Myelopathy

[Term]
id: HP:0002321
name: Vertigo
def: "An abnormal sensation of spinning while the body is actually stationary." [HPO:probinson]
synonym: "Dizziness" RELATED layperson []
synonym: "Dizzy spell" EXACT layperson []
xref: MSH:D004244
xref: MSH:D014717
xref: SNOMEDCT_US:271789005
xref: SNOMEDCT_US:399090003
xref: SNOMEDCT_US:399153001
xref: SNOMEDCT_US:404640003
xref: UMLS:C0012833
xref: UMLS:C0042571
is_a: HP:0001751 ! Vestibular dysfunction

[Term]
id: HP:0002322
name: Resting tremor
def: "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:probinson, PMID:22675666]
comment: Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width.
synonym: "Parkinsonian tremor" RELATED []
synonym: "Rest tremor" EXACT []
synonym: "Resting tremor" EXACT layperson []
synonym: "Tremor at rest" EXACT layperson []
xref: MSH:D014202
xref: SNOMEDCT_US:25082004
xref: UMLS:C0234379
is_a: HP:0001337 ! Tremor

[Term]
id: HP:0002323
name: Anencephaly
xref: Fyler:4332
xref: MSH:D000757
xref: SNOMEDCT_US:89369001
xref: UMLS:C0002902
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum

[Term]
id: HP:0002324
name: Hydranencephaly
def: "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue." [HPO:probinson]
synonym: "Hydrancephaly" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D006832
xref: SNOMEDCT_US:30023002
xref: UMLS:C0020225
is_a: HP:0002323 ! Anencephaly

[Term]
id: HP:0002326
name: Transient ischemic attack
synonym: "Mini stroke" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "TIA" EXACT HP:0045077 [HPO:skoehler]
synonym: "Transient ischemic attacks" EXACT []
xref: MSH:D002546
xref: UMLS:C0917805
is_a: HP:0001297 ! Stroke
is_a: HP:0002637 ! Cerebral ischemia

[Term]
id: HP:0002329
name: Drowsiness
def: "Excessive daytime sleepiness." [HPO:probinson]
synonym: "Drowsiness" EXACT layperson []
synonym: "Sleepy" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012894
xref: SNOMEDCT_US:271782001
xref: SNOMEDCT_US:79519003
xref: UMLS:C0013144
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0002330
name: Paroxysmal drowsiness
def: "Attacks of disabling daytime drowsiness and low alertness." [HPO:probinson]
xref: UMLS:C4025713
is_a: HP:0002329 ! Drowsiness

[Term]
id: HP:0002331
name: Recurrent paroxysmal headache
def: "Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality." [HPO:probinson]
xref: UMLS:C1854337
is_a: HP:0002315 ! Headache

[Term]
id: HP:0002332
name: Lack of peer relationships
synonym: "Lack of peer relationships" EXACT layperson []
xref: UMLS:C1845337
is_a: HP:0000735 ! Impaired social interactions

[Term]
id: HP:0002333
name: Motor deterioration
def: "Loss of previously present motor (i.e., movement) abilities." [HPO:probinson]
synonym: "Progressive degeneration of movement" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1866284
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0002334
name: Abnormality of the cerebellar vermis
def: "An anomaly of the vermis of cerebellum." [HPO:probinson]
comment: The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres.
xref: UMLS:C4025712
is_a: HP:0002438 ! Cerebellar malformation

[Term]
id: HP:0002335
name: Agenesis of cerebellar vermis
alt_id: HP:0007125
def: "Congenital absence of the vermis of cerebellum." [HPO:probinson]
synonym: "Cerebellar vermis aplasia" EXACT []
xref: MSH:C536293
xref: SNOMEDCT_US:253175003
xref: SNOMEDCT_US:716997004
xref: UMLS:C0431399
is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis

[Term]
id: HP:0002339
name: Abnormal caudate nucleus morphology
def: "Any structural abnormality of the caudate nucleus." [HPO:probinson]
comment: The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent.
synonym: "Abnormality of the caudate nucleus" EXACT []
xref: UMLS:C4025711
is_a: HP:0010994 ! Abnormal corpus striatum morphology

[Term]
id: HP:0002340
name: Caudate atrophy
synonym: "Caudate degeneration" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1858116
is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus

[Term]
id: HP:0002341
name: Cervical cord compression
alt_id: HP:0007145
def: "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness." [HPO:probinson]
synonym: "Cervical cord compression myelopathy" EXACT []
xref: UMLS:C0852866
is_a: HP:0002176 ! Spinal cord compression

[Term]
id: HP:0002342
name: Intellectual disability, moderate
alt_id: HP:0007303
def: "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators]
synonym: "IQ between 34 and 49" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability]
synonym: "Mental retardation, moderate" EXACT []
synonym: "Moderate mental deficiency" EXACT []
synonym: "Moderate mental retardation" EXACT []
xref: SNOMEDCT_US:61152003
xref: UMLS:C0026351
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0002343
name: Normal pressure hydrocephalus
def: "A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture." [eMedicine:1135286, HPO:probinson]
comment: Normal pressure hydrocephalus rarely occurs in patients younger than 60 years.
synonym: "Normal-pressure hydrocephalus" EXACT []
xref: MSH:D006850
xref: SNOMEDCT_US:30753002
xref: UMLS:C0020258
is_a: HP:0000238 ! Hydrocephalus

[Term]
id: HP:0002344
name: Progressive neurologic deterioration
synonym: "Neurologic deterioration" EXACT []
synonym: "Neurologic deterioration, progressive" EXACT []
synonym: "Progressive mental deterioration" EXACT []
synonym: "Progressive neurodegeneration" EXACT []
synonym: "Worsening neurological symptoms" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1854838
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0002345
name: Action tremor
def: "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators]
comment: Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors
synonym: "Ataxic tremor" RELATED []
xref: MSH:D014202
xref: SNOMEDCT_US:30721006
xref: UMLS:C0234376
xref: UMLS:C4020853
is_a: HP:0001337 ! Tremor

[Term]
id: HP:0002346
name: Head tremor
def: "An unintentional, oscillating to-and-fro muscle movement affecting head movement." [HPO:probinson]
synonym: "Head tremor" EXACT layperson []
xref: UMLS:C0239882
is_a: HP:0030188 ! Tremor by anatomical site

[Term]
id: HP:0002349
name: Focal aware seizure
def: "A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile." [HPO:probinson, PMID:28276062, PMID:28276064]
comment: In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure.
synonym: "Focal aware seizures" EXACT HP:0045078 []
synonym: "Focal seizure with retained awareness" EXACT []
synonym: "Focal seizure without impairment of consciousness or awareness" EXACT []
synonym: "Focal seizures without impairment of consciousness or awareness" EXACT HP:0045078 []
synonym: "Simple partial seizure" EXACT []
synonym: "Simple partial seizures" EXACT HP:0045078 []
xref: MSH:D004828
xref: SNOMEDCT_US:117891000119100
xref: SNOMEDCT_US:79348005
xref: UMLS:C0234974
is_a: HP:0007359 ! Focal-onset seizure

[Term]
id: HP:0002350
name: Cerebellar cyst
synonym: "Cerebellar cysts" EXACT [HPO:skoehler]
xref: UMLS:C1847762
is_a: HP:0002438 ! Cerebellar malformation
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0002352
name: Leukoencephalopathy
alt_id: HP:0006838
alt_id: HP:0007073
def: "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." [HPO:probinson]
comment: This feature can be demonstrated by magnetic resonance imaging or computer tomography.
xref: MSH:D056784
xref: SNOMEDCT_US:22811006
xref: UMLS:C0270612
is_a: HP:0002060 ! Abnormality of the cerebrum

[Term]
id: HP:0002353
name: EEG abnormality
alt_id: HP:0001346
alt_id: HP:0002429
alt_id: HP:0006841
def: "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
synonym: "Abnormal EEG" EXACT HP:0045077 []
synonym: "Abnormal electroencephalogram" EXACT []
synonym: "EEG abnormalities" EXACT HP:0045077 []
synonym: "Electroencephalogram abnormal" EXACT []
synonym: "Electroencephalogram abnormalities" EXACT []
xref: SNOMEDCT_US:274521009
xref: UMLS:C0151611
is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology

[Term]
id: HP:0002354
name: Memory impairment
alt_id: HP:0000747
alt_id: HP:0002081
def: "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." [HPO:probinson]
comment: Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living.
synonym: "Forgetfulness" EXACT layperson []
synonym: "Memory impairment" EXACT layperson []
synonym: "Memory loss" EXACT layperson []
synonym: "Memory problems" EXACT layperson []
synonym: "Poor memory" EXACT layperson []
xref: MSH:D008569
xref: SNOMEDCT_US:386807006
xref: SNOMEDCT_US:55533009
xref: UMLS:C0233794
xref: UMLS:C0542476
xref: UMLS:C0751295
is_a: HP:0100543 ! Cognitive impairment

[Term]
id: HP:0002355
name: Difficulty walking
alt_id: HP:0007101
alt_id: HP:0009030
def: "Reduced ability to walk (ambulate)." [HPO:probinson]
synonym: "Difficulty in walking" EXACT layperson []
synonym: "Difficulty walking" EXACT layperson []
synonym: "Walking disability" EXACT []
xref: MSH:D051346
xref: SNOMEDCT_US:228158008
xref: UMLS:C0311394
is_a: HP:0001288 ! Gait disturbance
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0002356
name: Writer's cramp
def: "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument." [HPO:probinson]
synonym: "Writer's cramp" EXACT layperson []
xref: MSH:D020821
xref: SNOMEDCT_US:52008007
xref: UMLS:C0154676
is_a: HP:0004373 ! Focal dystonia

[Term]
id: HP:0002357
name: Dysphasia
xref: MSH:D001037
xref: SNOMEDCT_US:20301004
xref: UMLS:C0973461
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002359
name: Frequent falls
synonym: "Frequent falls" EXACT layperson []
xref: UMLS:C0850703
is_a: HP:0002311 ! Incoordination
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0002360
name: Sleep disturbance
def: "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
synonym: "Difficulty sleeping" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sleep disturbances" EXACT [HPO:skoehler]
synonym: "Sleep dysfunction" EXACT []
synonym: "Trouble sleeping" EXACT layperson []
xref: SNOMEDCT_US:53888004
xref: UMLS:C0037317
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0002361
name: Psychomotor deterioration
def: "Loss of previously present mental and motor abilities." [HPO:probinson]
synonym: "Psychomotor degeneration" EXACT []
xref: UMLS:C1836842
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0002362
name: Shuffling gait
def: "A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground." []
synonym: "Shuffled walk" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020233
xref: SNOMEDCT_US:43005009
xref: UMLS:C0231688
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002363
name: Abnormality of brainstem morphology
def: "An anomaly of the brainstem." [HPO:probinson]
synonym: "Abnormal shape of brainstem" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the brainstem" EXACT []
xref: UMLS:C1850601
is_a: HP:0012443 ! Abnormality of brain morphology

[Term]
id: HP:0002365
name: Hypoplasia of the brainstem
def: "Underdevelopment of the brainstem." [HPO:probinson]
comment: This finding can be demonstrated by magnetic resonance imaging.
synonym: "Brainstem hypoplasia" EXACT []
synonym: "Hypoplastic brain stem" EXACT []
synonym: "Hypoplastic brainstem" EXACT []
synonym: "Small brainstem" EXACT layperson []
synonym: "Underdeveloped brainstem" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1842688
is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem

[Term]
id: HP:0002366
name: Abnormal lower motor neuron morphology
alt_id: HP:0007276
def: "Any structural anomaly of the lower motor neuron." [HPO:probinson]
comment: previous def: 'has part' some \n(quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal))
synonym: "Lower motor neuron disease" EXACT []
synonym: "Lower motor neuron manifestations" EXACT []
synonym: "Lower motor neuron signs" EXACT []
xref: UMLS:C1865412
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
is_a: HP:0002450 ! Abnormal motor neuron morphology

[Term]
id: HP:0002367
name: Visual hallucinations
synonym: "Visual hallucinations" EXACT layperson []
xref: MSH:D006212
xref: SNOMEDCT_US:64269007
xref: UMLS:C0233763
is_a: HP:0000738 ! Hallucinations

[Term]
id: HP:0002370
name: Poor coordination
synonym: "Poor coordination" EXACT layperson []
xref: UMLS:C0563243
is_a: HP:0002311 ! Incoordination

[Term]
id: HP:0002371
name: Loss of speech
synonym: "Loss of speech" EXACT layperson []
xref: UMLS:C0542223
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002372
name: Normal interictal EEG
def: "Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis." []
xref: UMLS:C1843146
is_a: HP:0025373 ! Interictal EEG abnormality

[Term]
id: HP:0002373
name: Febrile seizures
alt_id: HP:0002175
alt_id: HP:0007102
def: "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators]
synonym: "Febrile convulsions" EXACT []
synonym: "Fever induced seizures" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Seizures, febrile, in early childhood" EXACT []
synonym: "Seizures, generalized, associated with fever" EXACT []
xref: MSH:D003294
xref: SNOMEDCT_US:41497008
xref: UMLS:C0009952
is_a: HP:0001250 ! Seizures

[Term]
id: HP:0002374
name: Diminished movement
synonym: "Diminished movement" EXACT layperson []
xref: UMLS:C4025710
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002375
name: Hypokinesia
alt_id: HP:0002603
alt_id: HP:0006795
def: "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [HPO:probinson]
synonym: "Decreased muscle movement" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Decreased spontaneous movement" EXACT layperson []
synonym: "Decreased spontaneous movements" EXACT layperson []
xref: MSH:D018476
xref: SNOMEDCT_US:255385008
xref: SNOMEDCT_US:43994002
xref: UMLS:C0086439
is_a: HP:0002374 ! Diminished movement

[Term]
id: HP:0002376
name: Developmental regression
alt_id: HP:0002471
alt_id: HP:0002489
alt_id: HP:0006797
alt_id: HP:0006828
alt_id: HP:0006854
alt_id: HP:0007037
alt_id: HP:0007242
alt_id: HP:0007247
def: "Loss of developmental skills, as manifested by loss of developmental milestones." [DDD:hvfirth]
comment: Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones.
synonym: "Loss of developmental milestones" EXACT layperson []
synonym: "Mental deterioration in childhood" EXACT layperson []
synonym: "Neurodevelopmental regression" EXACT []
synonym: "Psychomotor regression" EXACT []
synonym: "Psychomotor regression beginning in infancy" EXACT []
synonym: "Psychomotor regression in infants" EXACT []
synonym: "Psychomotor regression, progressive" EXACT []
xref: SNOMEDCT_US:609225004
xref: UMLS:C1836550
xref: UMLS:C1836830
xref: UMLS:C1850493
xref: UMLS:C1855009
xref: UMLS:C1855019
xref: UMLS:C1855996
xref: UMLS:C1857121
xref: UMLS:C1859678
is_a: HP:0012759 ! Neurodevelopmental abnormality

[Term]
id: HP:0002377
name: obsolete Paraganglioma-related cranial nerve palsy
is_obsolete: true
replaced_by: HP:0006824

[Term]
id: HP:0002378
name: Hand tremor
def: "An unintentional, oscillating to-and-fro muscle movement affecting the hand." []
synonym: "Hand tremor" EXACT layperson []
synonym: "Tremor of hand" EXACT layperson []
synonym: "Tremor of hands" EXACT layperson []
synonym: "tremors in hands" EXACT layperson []
xref: UMLS:C0239842
is_a: HP:0030188 ! Tremor by anatomical site

[Term]
id: HP:0002380
name: Fasciculations
alt_id: HP:0002468
alt_id: HP:0007092
def: "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators]
comment: This finding can be visible clinically and can be demonstrated by electromyography (EMG).
synonym: "Fasciculation" EXACT []
synonym: "Muscle fasciculation" EXACT []
synonym: "Muscle twitch" EXACT layperson [https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm, ORCID:0000-0001-6908-9849]
xref: MSH:D005207
xref: SNOMEDCT_US:82470000
xref: UMLS:C0015644
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0002381
name: Aphasia
def: "An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write." []
comment: Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections.
synonym: "Difficulty finding words" EXACT layperson []
synonym: "Losing words" EXACT layperson []
synonym: "Loss of words" EXACT layperson []
xref: MSH:D001037
xref: SNOMEDCT_US:87486003
xref: UMLS:C0003537
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002383
name: Encephalitis
synonym: "Brain inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D004660
xref: SNOMEDCT_US:45170000
xref: UMLS:C0014038
is_a: HP:0011450 ! Unusual CNS infection

[Term]
id: HP:0002384
name: Focal impaired awareness seizure
alt_id: HP:0002278
alt_id: HP:0011146
def: "A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary." [HPO:pnrobinson, PMID:28276062, PMID:28276064, PMID:9738682]
comment: In the previous (1981) ILAE classification of seizure types, the term 'complex partial seizure' was used to denote a focal impaired awareness seizure. The term Dialeptic seizure referred to seizures that have as their main ictal manifestations an alteration of consciousness that is independent of ictal EEG manifestations. The term is no longer recommended according to the 2017 ILAE seizure classification.
synonym: "Complex focal seizures" EXACT []
synonym: "Complex partial seizures" EXACT []
synonym: "Dialeptic seizure" RELATED []
synonym: "Dyscognitive seizures" EXACT []
synonym: "Focal impaired awareness seizures" EXACT HP:0045078 []
synonym: "Focal seizures with impairment of consciousness or awareness" EXACT HP:0045078 []
xref: SNOMEDCT_US:4103001
xref: UMLS:C0149958
xref: UMLS:C0270834
is_a: HP:0007359 ! Focal-onset seizure

[Term]
id: HP:0002385
name: Paraparesis
def: "Weakness or partial paralysis in the lower limbs." [HPO:probinson]
comment: Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity.
synonym: "Partial paralysis of legs" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D020335
xref: SNOMEDCT_US:1845001
xref: UMLS:C0221166
is_a: HP:0010551 ! Paraplegia/paraparesis

[Term]
id: HP:0002389
name: Cavum septum pellucidum
alt_id: HP:0006884
alt_id: HP:0007091
alt_id: HP:0007336
def: "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators]
synonym: "Large cavum septi pellucidi" EXACT []
synonym: "Persistent cavum septum pellucidum" EXACT []
synonym: "Widened cavum septum pellucidum" EXACT []
xref: UMLS:C1840380
is_a: HP:0007375 ! Abnormality of the septum pellucidum

[Term]
id: HP:0002390
name: Spinal arteriovenous malformation
xref: SNOMEDCT_US:261482004
xref: UMLS:C0348023
is_a: HP:0002143 ! Abnormality of the spinal cord
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0002392
name: EEG with polyspike wave complexes
def: "The presence of complexes of repetitive spikes and waves in EEG." [HPO:jalbers]
synonym: "EEG: spike and multispike waves, 3-4 hz" EXACT []
xref: UMLS:C4021757
is_a: HP:0010850 ! EEG with spike-wave complexes

[Term]
id: HP:0002395
name: Lower limb hyperreflexia
alt_id: HP:0007245
alt_id: HP:0007288
synonym: "Brisk lower extremity reflexes" EXACT []
synonym: "Hyperreflexia in lower limbs" EXACT []
synonym: "Hyperreflexia in the lower limbs" EXACT []
synonym: "Increased deep tendon reflexes in the lower limbs" EXACT []
synonym: "Leg hyperreflexia" EXACT []
synonym: "Overactive lower leg reflex" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1836696
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0002396
name: Cogwheel rigidity
def: "A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched)." [HPO:probinson]
comment: Cogwheel rigidity is a typical manifestation of Parkinson disease.
xref: MSH:D009127
xref: SNOMEDCT_US:55630000
xref: UMLS:C0151564
is_a: HP:0002063 ! Rigidity

[Term]
id: HP:0002398
name: Degeneration of anterior horn cells
alt_id: HP:0007136
alt_id: HP:0008312
synonym: "Anterior horn cell loss" EXACT []
synonym: "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord" EXACT []
synonym: "Degeneration of spinal cord anterior horn cells" EXACT []
synonym: "Loss of spinal cord anterior horn cells" EXACT []
synonym: "Progressive loss of anterior horn cells" EXACT []
synonym: "Spinal cord anterior horn cell degeneration" EXACT []
xref: UMLS:C1843505
is_a: HP:0006802 ! Abnormal anterior horn cell morphology
is_a: HP:0007373 ! Motor neuron atrophy

[Term]
id: HP:0002401
name: Stroke-like episode
def: "No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours." [PMID:22715346, PMID:23907585]
comment: Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent.
synonym: "Stroke-like episodes" EXACT layperson []
synonym: "Strokelike episodes" EXACT HP:0045078 []
xref: UMLS:C1857287
is_a: HP:0001297 ! Stroke

[Term]
id: HP:0002403
name: Positive Romberg sign
def: "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception." [HPO:probinson]
xref: SNOMEDCT_US:298310004
xref: UMLS:C0240914
is_a: HP:0010831 ! Impaired proprioception

[Term]
id: HP:0002404
name: Thickened superior cerebellar peduncle
def: "Increased width of the superior cerebellar peduncle." [HPO:probinson]
synonym: "Thick cerebellar peduncles" EXACT []
xref: UMLS:C4021756
is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle

[Term]
id: HP:0002406
name: Limb dysmetria
def: "A type of dysmetria involving the limbs." [HPO:probinson]
synonym: "Uncoordinated limb movement" NARROW layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1854489
xref: UMLS:C4280577
is_a: HP:0001310 ! Dysmetria

[Term]
id: HP:0002408
name: Cerebral arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain." []
synonym: "Cerebral AV malformation" EXACT HP:0045077 []
xref: Fyler:2201
xref: MSH:D002538
xref: SNOMEDCT_US:234142008
xref: UMLS:C0917804
is_a: HP:0100026 ! Arteriovenous malformation
is_a: HP:0100659 ! Abnormality of the cerebral vasculature

[Term]
id: HP:0002410
name: Aqueductal stenosis
def: "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [HPO:curators]
synonym: "Aqueduct of Sylvius stenosis" EXACT []
synonym: "Aqueduct stenosis" EXACT []
synonym: "Narrowing of aqueduct of Sylvius" EXACT [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D006849
xref: UMLS:C2936786
is_a: HP:0002118 ! Abnormality of the cerebral ventricles

[Term]
id: HP:0002411
name: Myokymia
def: "Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle." [PMID:21501741]
comment: Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity.
xref: MSH:D020385
xref: SNOMEDCT_US:27678003
xref: UMLS:C0684219
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002414
name: Spina bifida
def: "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." [HPO:probinson]
synonym: "Split spine" BROAD layperson [http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel, ORCID:0000-0001-5208-3432]
xref: Fyler:4157
xref: MSH:D016135
xref: SNOMEDCT_US:67531005
xref: UMLS:C0080178
is_a: HP:0010301 ! Spinal dysraphism

[Term]
id: HP:0002415
name: Leukodystrophy
def: "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes." [HPO:probinson]
comment: The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible.
synonym: "Degeneration of white matter of brain" EXACT [https://en.wikipedia.org/wiki/leukodystrophy, ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:192781003
xref: UMLS:C0023520
is_a: HP:0011400 ! Abnormal CNS myelination

[Term]
id: HP:0002416
name: Subependymal cysts
def: "Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life." [HPO:probinson, PMID:12423490]
comment: In the vast majority of cases, a simple persistence of the germinal  matrix  is  proposed  to  explain  their  presence  in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular.
xref: UMLS:C1833431
is_a: HP:0002118 ! Abnormality of the cerebral ventricles
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0002418
name: Abnormality of midbrain morphology
def: "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct." [HPO:probinson]
synonym: "Abnormal shape of midbrain" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the mesencephalon" EXACT []
synonym: "Abnormality of the midbrain" EXACT layperson []
xref: UMLS:C4021755
is_a: HP:0012443 ! Abnormality of brain morphology

[Term]
id: HP:0002419
name: Molar tooth sign on MRI
def: "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth." [HPO:probinson, pmid:14657304]
comment: Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern.
synonym: "'molar tooth sign' on brain imaging'" EXACT []
synonym: "'molar tooth' sign on imaging" EXACT []
synonym: "Molar tooth sign" EXACT []
xref: UMLS:C1865060
is_a: HP:0002418 ! Abnormality of midbrain morphology

[Term]
id: HP:0002421
name: Poor head control
def: "Difficulty to maintain correct position of the head while standing or sitting." [HPO:probinson]
synonym: "Poor head control" EXACT layperson []
xref: UMLS:C1836038
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0002423
name: Long-tract signs
comment: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.
synonym: "Long tract signs" EXACT []
xref: UMLS:C1865903
is_a: HP:0002143 ! Abnormality of the spinal cord

[Term]
id: HP:0002425
name: Anarthria
def: "A defect in the motor ability that enables speech." [HPO:curators]
synonym: "Loss of articulate speech" EXACT layperson [http://dictionary.reference.com/browse/anarthria, ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:48257004
xref: UMLS:C0234517
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002427
name: Motor aphasia
def: "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it." [HPO:probinson]
synonym: "Broca's aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, ORCID:0000-0001-5208-3432]
synonym: "Expressive aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, ORCID:0000-0001-5208-3432]
synonym: "Loss of expressive speech" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D001039
xref: SNOMEDCT_US:229654003
xref: SNOMEDCT_US:229665008
xref: SNOMEDCT_US:328681008
xref: UMLS:C0003550
xref: UMLS:C0917814
is_a: HP:0002381 ! Aphasia

[Term]
id: HP:0002435
name: Meningocele
def: "Protrusion of the meninges through a defect of the vertebral column." [HPO:sdoelken]
xref: MSH:D008588
xref: SNOMEDCT_US:171131006
xref: UMLS:C0025299
is_a: HP:0002414 ! Spina bifida
is_a: HP:0010651 ! Abnormal meningeal morphology

[Term]
id: HP:0002436
name: Occipital meningocele
def: "A herniation of meninges through a congenital bone defect in the skull in the occipital region." [HPO:probinson]
xref: SNOMEDCT_US:445468002
xref: UMLS:C1848652
is_a: HP:0002435 ! Meningocele

[Term]
id: HP:0002438
name: Cerebellar malformation
xref: UMLS:C4025708
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0002439
name: Frontolimbic dementia
xref: UMLS:C1836151
is_a: HP:0000726 ! Dementia

[Term]
id: HP:0002442
name: Dyscalculia
def: "A specific learning disability involving mathematics and arithmetic." [DDD:probinson]
synonym: "Difficulty making arithmetical calculations" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:47916000
xref: UMLS:C1411876
xref: UMLS:C4280576
is_a: HP:0001328 ! Specific learning disability

[Term]
id: HP:0002444
name: Hypothalamic hamartoma
def: "The presence of a hamartoma of the hypothalamus." [HPO:curators]
comment: Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency.
xref: MSH:C537158
xref: SNOMEDCT_US:237714006
xref: UMLS:C0342418
is_a: HP:0009731 ! Cerebral hamartoma
is_a: HP:0012286 ! Abnormal hypothalamus morphology

[Term]
id: HP:0002445
name: Tetraplegia
alt_id: HP:0010552
def: "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord." [HPO:probinson]
synonym: "Paralysis of all four limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Quadriplegia" EXACT []
xref: MSH:D011782
xref: SNOMEDCT_US:11538006
xref: UMLS:C0034372
is_a: HP:0030182 ! Tetraplegia/tetraparesis

[Term]
id: HP:0002446
name: Astrocytosis
def: "Proliferation of astrocytes in the area of a lesion of the central nervous system." [HPO:probinson]
synonym: "Increase in astrocyte number" BROAD [ORCID:0000-0001-5208-3432]
xref: MSH:D005911
xref: SNOMEDCT_US:81415000
xref: UMLS:C3887640
is_a: HP:0100705 ! Abnormality of the glial cells

[Term]
id: HP:0002448
name: Progressive encephalopathy
synonym: "Progressive brain disease" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1838578
xref: UMLS:C4280575
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0002450
name: Abnormal motor neuron morphology
def: "Any structural anomaly that affects the motor neuron." []
synonym: "Abnormal shape of motor neuron" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025707
is_a: HP:0012757 ! Abnormal neuron morphology

[Term]
id: HP:0002451
name: Limb dystonia
def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [HPO:probinson]
xref: MSH:D004421
xref: UMLS:C0751093
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0002453
name: Abnormal globus pallidus morphology
alt_id: HP:0007040
def: "An abnormality of the globus pallidus." [HPO:probinson]
comment: The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule.
xref: UMLS:C4025706
is_a: HP:0002134 ! Abnormality of the basal ganglia

[Term]
id: HP:0002454
name: Eye of the tiger anomaly of globus pallidus
def: "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance." [HPO:probinson, pmid:11110959, PMID:19881070]
comment: This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus.
xref: UMLS:C4025705
is_a: HP:0002453 ! Abnormal globus pallidus morphology

[Term]
id: HP:0002457
name: Abnormal head movements
synonym: "Abnormal head movements" EXACT layperson []
xref: SNOMEDCT_US:271799000
xref: UMLS:C0476217
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002459
name: obsolete Dysautonomia
is_obsolete: true
replaced_by: HP:0012332

[Term]
id: HP:0002460
name: Distal muscle weakness
alt_id: HP:0002598
alt_id: HP:0002935
alt_id: HP:0003497
alt_id: HP:0006940
alt_id: HP:0009008
def: "Reduced strength of the musculature of the distal extremities." [HPO:probinson]
comment: Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric.
synonym: "Distal limb muscle weakness" EXACT []
synonym: "Distal limb muscle weakness due to peripheral neuropathy" RELATED [HPO:skoehler]
synonym: "Distal limb weakness" EXACT []
synonym: "Distal muscular weakness" EXACT []
synonym: "Distal paresis" EXACT []
synonym: "Muscle weakness, distal" EXACT []
synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT []
synonym: "Weakness of distal muscles" EXACT []
synonym: "Weakness of outermost muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:249942005
xref: UMLS:C0427065
xref: UMLS:C1864696
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0002461
name: Dense calcifications in the cerebellar dentate nucleus
xref: UMLS:C1859273
is_a: HP:0007352 ! Cerebellar calcifications
is_a: HP:0100321 ! Abnormality of the dentate nucleus

[Term]
id: HP:0002463
name: Language impairment
def: "Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations." [ISBN:9780890425558]
synonym: "Language disorder" RELATED []
synonym: "Language impairment" EXACT layperson []
xref: MSH:D007806
xref: SNOMEDCT_US:62305002
xref: UMLS:C0023015
is_a: HP:0011446 ! Abnormality of higher mental function

[Term]
id: HP:0002464
name: Spastic dysarthria
def: "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality." [HPO:probinson]
synonym: "Rigid dysarthria" EXACT [http://medical-dictionary.thefreedictionary.com/spastic+dysarthria, ORCID:0000-0001-5208-3432]
xref: MSH:D004401
xref: SNOMEDCT_US:229684006
xref: UMLS:C0454596
is_a: HP:0001257 ! Spasticity
is_a: HP:0001260 ! Dysarthria

[Term]
id: HP:0002465
name: Poor speech
synonym: "Difficulty speaking" RELATED layperson []
synonym: "Poor speech" EXACT layperson []
synonym: "Problems speaking" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1848207
xref: UMLS:C4280574
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002470
name: Nonprogressive cerebellar ataxia
xref: UMLS:C1845029
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002472
name: Small cerebral cortex
alt_id: HP:0006791
alt_id: HP:0007151
def: "Reduced size of the cerebral cortex." [HPO:probinson]
synonym: "Decreased volume of cerebral cortex" EXACT []
xref: UMLS:C1837503
is_a: HP:0002538 ! Abnormality of the cerebral cortex

[Term]
id: HP:0002474
name: Expressive language delay
alt_id: HP:0007192
def: "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [HPO:probinson]
synonym: "Communication delay" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Deficit in expressive language" EXACT []
xref: SNOMEDCT_US:229734008
xref: UMLS:C0454641
xref: UMLS:C1847610
xref: UMLS:C4280573
is_a: HP:0000750 ! Delayed speech and language development

[Term]
id: HP:0002475
name: Myelomeningocele
def: "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column." [HPO:probinson]
comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits.
synonym: "Meningomyelocele" EXACT []
synonym: "Spina bifida cystica" EXACT [HPO:sdoelken]
xref: Fyler:4309
xref: MSH:D008591
xref: SNOMEDCT_US:203994003
xref: SNOMEDCT_US:414667000
xref: UMLS:C0025312
is_a: HP:0002435 ! Meningocele

[Term]
id: HP:0002476
name: Primitive reflex
def: "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [PMID:12700289]
synonym: "Archaic reflex" EXACT []
synonym: "Primitive reflexes" EXACT []
xref: UMLS:C1838319
is_a: HP:0031826 ! Abnormal reflex

[Term]
id: HP:0002478
name: Progressive spastic quadriplegia
synonym: "Progressive spastic quadriparesis" EXACT []
xref: UMLS:C1859736
is_a: HP:0002191 ! Progressive spasticity

[Term]
id: HP:0002480
name: Hepatic encephalopathy
def: "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes." [HPO:probinson]
xref: MSH:D006501
xref: SNOMEDCT_US:13920009
xref: SNOMEDCT_US:449902003
xref: UMLS:C0019151
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0002483
name: Bulbar signs
xref: UMLS:C1856507
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0002486
name: Myotonia
alt_id: HP:0003632
alt_id: HP:0003754
alt_id: HP:0003792
def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." [HPO:probinson]
comment: Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers.
synonym: "Delayed relaxation of muscle fibers after contraction" EXACT []
xref: MSH:D009222
xref: SNOMEDCT_US:3434004
xref: UMLS:C0027125
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0002487
name: Hyperkinesis
def: "Motor hyperactivity with excessive movement of muscles of the body as a whole." [HPO:probinson]
synonym: "Hyperkinesia" EXACT []
synonym: "Muscle spasms" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006948
xref: MSH:D013035
xref: SNOMEDCT_US:44548000
xref: SNOMEDCT_US:45352006
xref: UMLS:C0037763
xref: UMLS:C0424295
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002488
name: Acute leukemia
def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300]
synonym: "Acute blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Acute leukemias" EXACT []
xref: SNOMEDCT_US:24072005
xref: SNOMEDCT_US:91855006
xref: UMLS:C0085669
xref: UMLS:C4280572
is_a: HP:0001909 ! Leukemia
created_by: peter
creation_date: 2008-03-27T10:32:00Z

[Term]
id: HP:0002490
name: Increased CSF lactate
def: "Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators]
synonym: "Hyperlactatorachia" EXACT []
synonym: "Increased cerebrospinal fluid lactate" EXACT []
synonym: "Increased CSF lactic acid" EXACT []
xref: UMLS:C1167918
is_a: HP:0030085 ! Abnormal CSF lactate level

[Term]
id: HP:0002491
name: Spasticity of facial muscles
alt_id: HP:0000313
def: "Spasticity of one or more muscles innervated by the facial nerve." []
comment: Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort.
synonym: "Increased stiffness of facial muscles" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased tone of facial muscles" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Spasticity of the facial muscles" EXACT []
xref: UMLS:C1853404
xref: UMLS:C4280570
xref: UMLS:C4280571
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002492
name: Abnormality of the corticospinal tract
alt_id: HP:0006912
def: "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord." [HPO:probinson]
synonym: "Involvement of the corticospinal pathways" RELATED []
xref: UMLS:C4020852
xref: UMLS:C4025704
is_a: HP:0002062 ! Morphological abnormality of the pyramidal tract

[Term]
id: HP:0002493
name: Upper motor neuron dysfunction
def: "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs." [HPO:probinson]
comment: A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response).
synonym: "Corticospinal tract dysfunction" EXACT []
synonym: "Pyramidal tract dysfunction" EXACT []
xref: UMLS:C1504405
xref: UMLS:C1839042
is_a: HP:0011442 ! Abnormality of central motor function

[Term]
id: HP:0002494
name: Abnormal rapid eye movement sleep
def: "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements." [HPO:curators]
synonym: "Abnormal REM sleep" EXACT []
xref: SNOMEDCT_US:69020003
xref: UMLS:C0392188
is_a: HP:0002360 ! Sleep disturbance

[Term]
id: HP:0002495
name: Impaired vibratory sensation
alt_id: HP:0006836
alt_id: HP:0007116
def: "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:probinson]
comment: Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex.
synonym: "Decreased vibration sense" EXACT layperson []
synonym: "Decreased vibratory sense" EXACT layperson []
synonym: "Diminished vibratory sense" EXACT layperson []
synonym: "Impaired vibratory sensation" EXACT layperson []
synonym: "Impaired vibratory sense" EXACT layperson []
xref: SNOMEDCT_US:130980003
xref: UMLS:C1295585
is_a: HP:0003474 ! Sensory impairment

[Term]
id: HP:0002497
name: Spastic ataxia
xref: MSH:C564815
xref: UMLS:C1849156
is_a: HP:0001251 ! Ataxia

[Term]
id: HP:0002500
name: Abnormality of the cerebral white matter
alt_id: HP:0200100
def: "An abnormality of the cerebral white matter." [HPO:probinson]
comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex.
synonym: "Abnormality of subcortical white matter" EXACT []
synonym: "Cerebral white matter abnormalities" EXACT []
synonym: "Cortical white matter abnormalities seen on MRI" RELATED [HPO:skoehler]
synonym: "Leukoaraiosis" EXACT [pmid:3800716]
synonym: "White matter abnormalities" EXACT []
synonym: "White matter alterations" EXACT []
xref: MSH:D049292
xref: UMLS:C0948163
xref: UMLS:C4020851
is_a: HP:0010993 ! Abnormality of the cerebral subcortex

[Term]
id: HP:0002501
name: Spasticity of pharyngeal muscles
xref: UMLS:C1853398
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002503
name: Spinocerebellar tract degeneration
synonym: "Degeneration of the spinocerebellar tracts" EXACT []
synonym: "Spinocerebellar degeneration" EXACT []
xref: UMLS:C1866751
is_a: HP:0003133 ! Abnormality of the spinocerebellar tracts

[Term]
id: HP:0002504
name: Calcification of the small brain vessels
def: "Deposition of calcium salts within small blood vessels of the brain." [HPO:probinson]
comment: This finding can be made upon neuropathologic examination.
xref: UMLS:C4025703
is_a: HP:0009145 ! Abnormal cerebral artery morphology
is_a: HP:0031306 ! Intracranial arterial calcification

[Term]
id: HP:0002505
name: Progressive inability to walk
synonym: "Progressive inability to walk" EXACT layperson []
xref: UMLS:C1836843
is_a: HP:0002540 ! Inability to walk

[Term]
id: HP:0002506
name: Diffuse cerebral atrophy
alt_id: HP:0006954
def: "Diffuse unlocalised atrophy affecting the cerebrum." [HPO:sdoelken]
synonym: "Cerebral atrophy, diffuse" EXACT []
xref: UMLS:C0598275
is_a: HP:0002059 ! Cerebral atrophy

[Term]
id: HP:0002507
name: Semilobar holoprosencephaly
def: "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [gc:hpe]
xref: MSH:D016142
xref: SNOMEDCT_US:253138008
xref: UMLS:C0751617
is_a: HP:0001360 ! Holoprosencephaly

[Term]
id: HP:0002508
name: Brainstem dysplasia
alt_id: HP:0006991
def: "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord." [HPO:probinson]
synonym: "Brainstem hypoplasia/dysplasia" EXACT []
synonym: "Malformation of brainstem structures" EXACT []
xref: UMLS:C1855677
is_a: HP:0002363 ! Abnormality of brainstem morphology

[Term]
id: HP:0002509
name: Limb hypertonia
synonym: "Increased muscle tone of arm or leg" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1838391
is_a: HP:0001276 ! Hypertonia
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0002510
name: Spastic tetraplegia
alt_id: HP:0001280
def: "Spastic paralysis affecting all four limbs." [HPO:probinson]
synonym: "Spastic quadriplegia" EXACT []
xref: MSH:D011782
xref: SNOMEDCT_US:192965001
xref: UMLS:C0426970
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0002511
name: Alzheimer disease
alt_id: HP:0006878
alt_id: HP:0007213
def: "A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads." [HPO:probinson]
comment: Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features.
synonym: "Alzheimer disease" EXACT layperson []
synonym: "Late-onset form of familial Alzheimer disease" EXACT layperson []
xref: MSH:C536595
xref: MSH:D000544
xref: SNOMEDCT_US:230267005
xref: SNOMEDCT_US:26929004
xref: UMLS:C0002395
xref: UMLS:C1863051
is_a: HP:0002011 ! Morphological abnormality of the central nervous system

[Term]
id: HP:0002512
name: Brain stem compression
xref: SNOMEDCT_US:25816005
xref: SNOMEDCT_US:5582005
xref: UMLS:C0270680
is_a: HP:0002363 ! Abnormality of brainstem morphology

[Term]
id: HP:0002514
name: Cerebral calcification
alt_id: HP:0002502
alt_id: HP:0005806
alt_id: HP:0006848
def: "The presence of calcium deposition within brain structures." [HPO:probinson]
comment: This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull.
synonym: "Abnormal deposits of calcium in the brain" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Brain calcification" EXACT []
synonym: "Intracerebral calcifications" EXACT []
synonym: "Intracranial calcification" EXACT []
synonym: "Intracranial calcifications" EXACT []
xref: SNOMEDCT_US:17944005
xref: UMLS:C0270685
is_a: HP:0002060 ! Abnormality of the cerebrum
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0002515
name: Waddling gait
def: "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck." [PMID:27770207]
synonym: "'Waddling' gait" EXACT layperson []
synonym: "Waddling walk" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020233
xref: SNOMEDCT_US:271706000
xref: UMLS:C0231712
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002516
name: Increased intracranial pressure
def: "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson]
comment: Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain.
synonym: "Intracranial hypertension" EXACT []
synonym: "Intracranial pressure elevation" EXACT []
synonym: "Rise in pressure inside skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D019586
xref: SNOMEDCT_US:271719001
xref: UMLS:C0151740
is_a: HP:0012640 ! Abnormality of intracranial pressure

[Term]
id: HP:0002518
name: Abnormality of the periventricular white matter
synonym: "Periventricular white matter abnormalities" RELATED [HPO:skoehler]
xref: UMLS:C2673431
is_a: HP:0002352 ! Leukoencephalopathy
is_a: HP:0002500 ! Abnormality of the cerebral white matter

[Term]
id: HP:0002519
name: Hypnagogic hallucinations
xref: MSH:D006212
xref: SNOMEDCT_US:44780000
xref: UMLS:C0233773
is_a: HP:0000738 ! Hallucinations

[Term]
id: HP:0002521
name: Hypsarrhythmia
def: "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
synonym: "Hypsarrhythmia by EEG" EXACT []
xref: MSH:D013036
xref: SNOMEDCT_US:28055006
xref: UMLS:C0684276
is_a: HP:0011198 ! EEG with generalized epileptiform discharges

[Term]
id: HP:0002522
name: Areflexia of lower limbs
def: "Inability to elicit tendon reflexes in the lower limbs." [HPO:probinson]
synonym: "Absent lower limb tendon reflexes" EXACT []
synonym: "Areflexia in lower limbs" EXACT []
synonym: "Areflexia of the lower limbs" EXACT []
synonym: "Areflexia, lower limbs" EXACT []
xref: UMLS:C1856694
is_a: HP:0001284 ! Areflexia
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0002524
name: Cataplexy
alt_id: HP:0002428
alt_id: HP:0002525
def: "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions." [HPO:probinson, pmid:21931493, pmid:22249574]
comment: Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage.
xref: MSH:D002385
xref: SNOMEDCT_US:46263000
xref: UMLS:C0007384
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0002526
name: Deficit in nonword repetition
def: "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory." [HPO:probinson]
xref: UMLS:C4025702
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002527
name: Falls
synonym: "Falls" EXACT layperson []
xref: SNOMEDCT_US:161898004
xref: SNOMEDCT_US:1912002
xref: UMLS:C0085639
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002528
name: Granulovacuolar degeneration
comment: Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease.
xref: SNOMEDCT_US:90506004
xref: UMLS:C0333454
is_a: HP:0002060 ! Abnormality of the cerebrum

[Term]
id: HP:0002529
name: Neuronal loss in central nervous system
alt_id: HP:0002400
comment: This finding can be demonstrated by neuropathology.
synonym: "Loss of brain cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Neuronal loss" EXACT []
synonym: "Neuronal loss in CNS" EXACT HP:0045077 []
xref: UMLS:C1850496
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system

[Term]
id: HP:0002530
name: Axial dystonia
def: "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles." [HPO:probinson]
xref: UMLS:C1836149
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0002533
name: Abnormal posturing
def: "Involuntary flexion or extension of the arms and legs." [HPO:probinson]
xref: SNOMEDCT_US:43029002
xref: UMLS:C0231471
is_a: HP:0100022 ! Abnormality of movement

[Term]
id: HP:0002536
name: Abnormal cortical gyration
alt_id: HP:0006900
def: "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators]
synonym: "Abnormal gyration" EXACT []
synonym: "Cerebral gyral anomalies" EXACT []
xref: UMLS:C1856019
is_a: HP:0002269 ! Abnormality of neuronal migration
is_a: HP:0002538 ! Abnormality of the cerebral cortex

[Term]
id: HP:0002538
name: Abnormality of the cerebral cortex
def: "An abnormality of the cerebral cortex." [HPO:probinson]
xref: UMLS:C4025701
is_a: HP:0002060 ! Abnormality of the cerebrum

[Term]
id: HP:0002539
name: Cortical dysplasia
alt_id: HP:0007139
def: "The presence of developmental dysplasia of the cerebral cortex." [HPO:probinson]
synonym: "Neocortical dysplasia" EXACT []
xref: MSH:D054220
xref: SNOMEDCT_US:253153000
xref: UMLS:C0431380
is_a: HP:0002538 ! Abnormality of the cerebral cortex

[Term]
id: HP:0002540
name: Inability to walk
def: "Incapability to ambulate." [HPO:probinson]
synonym: "Inability to walk" EXACT layperson []
synonym: "Non-ambulatory" EXACT []
xref: SNOMEDCT_US:282145008
xref: UMLS:C0560046
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0002542
name: Olivopontocerebellar atrophy
alt_id: HP:0005683
def: "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus." [HPO:probinson]
synonym: "Olivopontocerebellar degeneration" EXACT []
xref: MSH:D009849
xref: SNOMEDCT_US:67761004
xref: UMLS:C0028968
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0002544
name: Retrocollis
def: "A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture." [HPO:probinson, pmid:17917462]
comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back.
xref: UMLS:C3887667
is_a: HP:0000473 ! Torticollis

[Term]
id: HP:0002545
name: Patchy demyelination of subcortical white matter
def: "Patchy loss of myelin from nerve fibers in the central nervous system." [HPO:probinson]
xref: UMLS:C1857638
is_a: HP:0007305 ! CNS demyelination

[Term]
id: HP:0002546
name: Incomprehensible speech
synonym: "Incomprehensible speech" EXACT layperson []
xref: UMLS:C1838027
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0002548
name: Parkinsonism with favorable response to dopaminergic medication
def: "Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication." []
synonym: "Favorable response to levodopa" RELATED []
xref: UMLS:C1846868
is_a: HP:0001300 ! Parkinsonism

[Term]
id: HP:0002549
name: Deficit in phonologic short-term memory
xref: UMLS:C1847609
is_a: HP:0002354 ! Memory impairment

[Term]
id: HP:0002550
name: Absent facial hair
def: "Absence of facial hair." [HPO:probinson]
synonym: "Absent facial hair" EXACT layperson []
xref: UMLS:C1848192
is_a: HP:0002298 ! Absent hair

[Term]
id: HP:0002552
name: Trichodysplasia
alt_id: HP:0004515
def: "Developmental dysplasia of the hair." [HPO:probinson]
synonym: "Generalized trichodysplasia" RELATED []
xref: UMLS:C4020850
xref: UMLS:C4025700
is_a: HP:0001595 ! Abnormal hair morphology

[Term]
id: HP:0002553
name: Highly arched eyebrow
alt_id: HP:0001584
alt_id: HP:0004533
alt_id: HP:0007681
alt_id: HP:0007804
alt_id: HP:0008505
def: "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [pmid:19125427]
comment: Most eyebrows have some arch with downturning medially and laterally.
subset: hposlim_core
synonym: "Arched eyebrows" EXACT layperson []
synonym: "Bowed and upward slanting eyebrows" RELATED layperson []
synonym: "Broad, arched eyebrows" EXACT layperson []
synonym: "High arched eyebrows" RELATED layperson [HPO:skoehler]
synonym: "High, rounded eyebrows" EXACT layperson []
synonym: "High-arched eyebrows" EXACT layperson []
synonym: "Highly arched eyebrow" EXACT layperson []
synonym: "Thick, flared eyebrows" EXACT layperson []
xref: UMLS:C1868571
xref: UMLS:C4020849
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0002555
name: Absent pubic hair
alt_id: HP:0004537
alt_id: HP:0004556
def: "Absence of pubic hair." [HPO:probinson]
subset: hposlim_core
synonym: "Absent pubic hair" EXACT layperson []
xref: UMLS:C1859391
is_a: HP:0002298 ! Absent hair
is_a: HP:0100133 ! Abnormality of the pubic hair

[Term]
id: HP:0002557
name: Hypoplastic nipples
alt_id: HP:0002560
alt_id: HP:0003188
alt_id: HP:0006652
def: "Underdevelopment of the nipple." [HPO:probinson]
synonym: "Nipple hypoplasia" EXACT []
synonym: "Small nipples" EXACT layperson []
xref: SNOMEDCT_US:268290005
xref: UMLS:C0432355
is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples

[Term]
id: HP:0002558
name: Supernumerary nipple
alt_id: HP:0002559
def: "Presence of more than two nipples." [HPO:probinson]
subset: hposlim_core
synonym: "accessory mamilla" EXACT []
synonym: "accessory mamillas" RELATED []
synonym: "Accessory nipple" EXACT layperson []
synonym: "Accessory nipples" RELATED layperson []
synonym: "Increased nipple number" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Supernumerary nipples" RELATED []
xref: Fyler:4234
xref: MSH:C562557
xref: SNOMEDCT_US:50956007
xref: UMLS:C0266011
is_a: HP:0004404 ! Abnormal nipple morphology

[Term]
id: HP:0002561
name: Absent nipple
def: "Congenital failure to develop, and absence of, the nipple." []
comment: This finding can be unilateral or bilateral.
synonym: "Absent nipple" EXACT layperson []
synonym: "Absent nipples" EXACT layperson []
synonym: "Athelia" EXACT []
xref: SNOMEDCT_US:248820000
xref: UMLS:C0425795
is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples

[Term]
id: HP:0002562
name: Low-set nipples
def: "Placement of the nipples at a lower than normal location." [HPO:probinson]
subset: hposlim_core
synonym: "Low-set nipples" EXACT layperson []
xref: UMLS:C1836933
is_a: HP:0004404 ! Abnormal nipple morphology

[Term]
id: HP:0002563
name: Constrictive pericarditis
def: "Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium." [HPO:probinson]
xref: MSH:D010494
xref: SNOMEDCT_US:85598007
xref: UMLS:C0031048
is_a: HP:0001701 ! Pericarditis

[Term]
id: HP:0002564
name: obsolete Malformation of the heart and great vessels
is_obsolete: true
replaced_by: HP:0030680

[Term]
id: HP:0002566
name: Intestinal malrotation
alt_id: HP:0002026
def: "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:probinson, pmid:12438031]
subset: hposlim_core
synonym: "Gut malrotation" RELATED [HPO:skoehler]
synonym: "Malrotation" EXACT []
xref: MEDDRA:10064024 "Intestinal malrotation"
xref: MSH:C562456
xref: SNOMEDCT_US:253789002
xref: SNOMEDCT_US:29980002
xref: SNOMEDCT_US:48641006
xref: UMLS:C0221210
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002570
name: Steatorrhea
def: "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats." [HPO:probinson]
synonym: "Fat in feces" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D045602
xref: SNOMEDCT_US:27868004
xref: SNOMEDCT_US:66187002
xref: UMLS:C0038238
is_a: HP:0002630 ! Fat malabsorption

[Term]
id: HP:0002571
name: Achalasia
def: "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus." [HPO:probinson]
comment: Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing.
subset: hposlim_core
synonym: "Achalasia of the esophagus" EXACT []
xref: MEDDRA:10030136 "Oesophageal achalasia"
xref: MSH:D004931
xref: SNOMEDCT_US:45564002
xref: UMLS:C0014848
is_a: HP:0031857 ! Ineffective esophageal peristalsis

[Term]
id: HP:0002572
name: Episodic vomiting
def: "Paroxysmal, recurrent episodes of vomiting." [HPO:curators]
synonym: "Episodic vomiting" EXACT layperson []
synonym: "Frequent vomiting" RELATED layperson [HPO:skoehler]
xref: UMLS:C1838993
xref: UMLS:C1857202
is_a: HP:0002013 ! Vomiting

[Term]
id: HP:0002573
name: Hematochezia
alt_id: HP:0002255
alt_id: HP:0002609
def: "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus." [DDD:hfirth]
comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis.
synonym: "Rectal bleeding" EXACT layperson []
synonym: "Recurrent rectal bleeding" RELATED layperson [HPO:skoehler]
xref: MSH:D006471
xref: SNOMEDCT_US:236068001
xref: SNOMEDCT_US:405729008
xref: UMLS:C0018932
is_a: HP:0002239 ! Gastrointestinal hemorrhage
is_a: HP:0025085 ! Bloody diarrhea

[Term]
id: HP:0002574
name: Episodic abdominal pain
def: "An intermittent form of abdominal pain." [HPO:probinson]
synonym: "Intermittent abdominal pain" RELATED layperson []
xref: UMLS:C0262527
xref: UMLS:C3808022
is_a: HP:0002027 ! Abdominal pain
is_a: HP:0032148 ! Episodic pain

[Term]
id: HP:0002575
name: Tracheoesophageal fistula
def: "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal connection between trachea and esophagus" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: Fyler:4202
xref: MEDDRA:10044310 "Tracheo-oesophageal fistula"
xref: MSH:D014138
xref: SNOMEDCT_US:95435007
xref: UMLS:C0040588
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0002778 ! Abnormal trachea morphology

[Term]
id: HP:0002576
name: Intussusception
def: "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine." [HPO:probinson]
comment: Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel.
subset: hposlim_core
xref: MEDDRA:10022863 "Intussusception"
xref: MSH:D007443
xref: SNOMEDCT_US:35327006
xref: SNOMEDCT_US:49723003
xref: UMLS:C0021933
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002577
name: Abnormality of the stomach
def: "An abnormality of the stomach." [HPO:probinson]
comment: The stomach the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine.
xref: UMLS:C4025699
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract

[Term]
id: HP:0002578
name: Gastroparesis
def: "Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction." [HPO:probinson]
subset: hposlim_core
synonym: "Delayed gastric emptying" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D018589
xref: SNOMEDCT_US:196753007
xref: SNOMEDCT_US:235675006
xref: UMLS:C0152020
is_a: HP:0002577 ! Abnormality of the stomach
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0002579
name: Gastrointestinal dysmotility
def: "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [HPO:probinson]
subset: hposlim_core
synonym: "GI dysmotility" EXACT HP:0045077 []
xref: UMLS:C1836923
is_a: HP:0030895 ! Abnormal gastrointestinal motility

[Term]
id: HP:0002580
name: Volvulus
def: "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue." [HPO:probinson]
comment: Volvulus can lead to intestinal obstruction and ischemia.
xref: MSH:D045822
xref: SNOMEDCT_US:90738007
xref: SNOMEDCT_US:9707006
xref: UMLS:C0042961
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002582
name: Chronic atrophic gastritis
def: "A form of chronic gastritis associated with atrophic gastric mucous membrane." [HPO:probinson]
comment: Over time, chronic gastritis leads to atrophy of the gastric mucosa. Thus, chronic atrophc gastritis can represent an end stage of chronic gastritis.
xref: MSH:D005757
xref: SNOMEDCT_US:84568007
xref: UMLS:C0017154
is_a: HP:0005231 ! Chronic gastritis

[Term]
id: HP:0002583
name: Colitis
def: "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases." [HPO:sdoelken]
xref: MSH:D003092
xref: SNOMEDCT_US:64226004
xref: UMLS:C0009319
is_a: HP:0002037 ! Inflammation of the large intestine

[Term]
id: HP:0002584
name: Intestinal bleeding
def: "Bleeding from the intestines." [DDD:akelly]
synonym: "Intestinal bleeding" EXACT layperson []
synonym: "Intestinal hemorrhage" EXACT []
xref: SNOMEDCT_US:712510007
xref: UMLS:C0267373
is_a: HP:0002239 ! Gastrointestinal hemorrhage
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0002585
name: Abnormality of the peritoneum
def: "An abnormality of the peritoneum." [HPO:probinson]
comment: The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs.
xref: UMLS:C4025698
is_a: HP:0002012 ! Abnormality of the abdominal organs

[Term]
id: HP:0002586
name: Peritonitis
alt_id: HP:0100591
def: "Inflammation of the peritoneum." [HPO:probinson]
synonym: "Inflammation of the peritoneum" EXACT []
xref: MSH:D010538
xref: SNOMEDCT_US:48661000
xref: UMLS:C0031154
is_a: HP:0002585 ! Abnormality of the peritoneum
is_a: HP:0045073 ! Serositis

[Term]
id: HP:0002587
name: Projectile vomiting
def: "Vomiting that ejects the gastric contents with great force." [HPO:probinson]
synonym: "Projectile vomiting" EXACT layperson []
xref: SNOMEDCT_US:8579004
xref: UMLS:C0221151
is_a: HP:0002013 ! Vomiting

[Term]
id: HP:0002588
name: Duodenal ulcer
def: "An erosion of the mucous membrane of in a portion of the duodenum." [HPO:probinson]
subset: hposlim_core
xref: MEDDRA:10013836 "Duodenal ulcer"
xref: MSH:D004381
xref: SNOMEDCT_US:367474008
xref: SNOMEDCT_US:51868009
xref: UMLS:C0013295
is_a: HP:0002246 ! Abnormality of the duodenum

[Term]
id: HP:0002589
name: Gastrointestinal atresia
synonym: "GI atresia" EXACT HP:0045077 []
xref: UMLS:C4025697
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract

[Term]
id: HP:0002590
name: Paralytic ileus
xref: MSH:D007418
xref: SNOMEDCT_US:55525008
xref: UMLS:C0030446
is_a: HP:0002595 ! Ileus

[Term]
id: HP:0002591
name: Polyphagia
alt_id: HP:0000724
alt_id: HP:0002042
def: "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat." [HPO:probinson]
synonym: "Hyperphagia" EXACT []
synonym: "Increased appetite" RELATED layperson []
synonym: "Voracious appetite" EXACT layperson []
xref: MSH:D006963
xref: SNOMEDCT_US:267023007
xref: SNOMEDCT_US:58424009
xref: SNOMEDCT_US:72405004
xref: UMLS:C0020505
xref: UMLS:C0232461
is_a: HP:0100738 ! Abnormal eating behavior

[Term]
id: HP:0002592
name: Gastric ulcer
def: "An ulcer, that is, an erosion of an area of the gastric mucous membrane." [HPO:probinson]
comment: The presence of a mucosal erosion equal to or greater than 0.5 cm.
subset: hposlim_core
synonym: "Stomach ulcer" EXACT layperson []
xref: MEDDRA:10017822 "Gastric ulcer"
xref: MSH:D013276
xref: SNOMEDCT_US:397825006
xref: UMLS:C0038358
is_a: HP:0004295 ! Abnormality of the gastric mucosa
is_a: HP:0004398 ! Peptic ulcer

[Term]
id: HP:0002593
name: Intestinal lymphangiectasia
def: "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines." [HPO:probinson]
xref: MSH:D008201
xref: SNOMEDCT_US:197260007
xref: UMLS:C0024215
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0002594
name: Pancreatic hypoplasia
alt_id: HP:0005221
def: "Hypoplasia of the pancreas." [HPO:probinson]
comment: Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size.
synonym: "Hypoplastic pancreas" EXACT []
synonym: "Underdeveloped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:68591005
xref: UMLS:C0266267
is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas

[Term]
id: HP:0002595
name: Ileus
def: "Acute obstruction of the intestines preventing passage of the contents of the intestines." [HPO:sdoelken]
subset: hposlim_core
synonym: "Gastrointestinal atony" EXACT [ORCID:0000-0001-5208-3432]
xref: MEDDRA:10021328 "Ileus"
xref: MSH:D045823
xref: UMLS:C1258215
is_a: HP:0002579 ! Gastrointestinal dysmotility
is_a: HP:0005214 ! Intestinal obstruction

[Term]
id: HP:0002597
name: Abnormality of the vasculature
def: "An abnormality of the vasculature." [HPO:probinson]
synonym: "Abnormality of blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the vasculature" EXACT layperson []
synonym: "Vascular abnormalities" EXACT layperson []
xref: UMLS:C0241657
is_a: HP:0001626 ! Abnormality of the cardiovascular system

[Term]
id: HP:0002599
name: Head titubation
def: "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction." [HPO:probinson]
comment: Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see pmid:4821687) was: As the disease progresses, some jerky irregularity develops in the movement\nof the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea.
xref: UMLS:C1608410
is_a: HP:0002346 ! Head tremor
is_a: HP:0002457 ! Abnormal head movements
is_a: HP:0030187 ! Titubation

[Term]
id: HP:0002600
name: Hyporeflexia of lower limbs
alt_id: HP:0006861
def: "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson]
comment: Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain.
synonym: "Hyporeflexia in lower limbs" EXACT []
synonym: "Hyporeflexia of the lower limbs" EXACT []
synonym: "Hyporeflexia, lower limbs" EXACT []
synonym: "Hyporeflexia/areflexia in lower limbs" EXACT []
xref: UMLS:C1834696
is_a: HP:0001265 ! Hyporeflexia
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0002601
name: Paresis of extensor muscles of the big toe
xref: UMLS:C4025696
is_a: HP:0001844 ! Abnormality of the hallux
is_a: HP:0002460 ! Distal muscle weakness

[Term]
id: HP:0002604
name: Gastrointestinal telangiectasia
def: "Telangiectasia affecting the gastrointestinal tract." [HPO:probinson]
comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon.
synonym: "GI telangiectasia" EXACT HP:0045077 []
synonym: "Small, enlarged blood vessels near skin" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1619711
is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature
is_a: HP:0100579 ! Mucosal telangiectasiae

[Term]
id: HP:0002605
name: Hepatic necrosis
def: "The presence of necrosis affecting the liver." [HPO:probinson]
xref: SNOMEDCT_US:87248009
xref: UMLS:C0151798
is_a: HP:0410042 ! Abnormal liver morphology
created_by: peter
creation_date: 2008-02-20T11:32:00Z

[Term]
id: HP:0002607
name: Bowel incontinence
alt_id: HP:0007147
def: "Involuntary fecal soiling in adults and children who have usually already been toilet trained." [HPO:sdoelken]
synonym: "Anal incontinence" EXACT []
synonym: "Fecal incontinence" EXACT []
synonym: "Loss of bowel control" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D005242
xref: SNOMEDCT_US:72042002
xref: UMLS:C0015732
is_a: HP:0012700 ! Abnormal large intestine physiology
is_a: HP:0031064 ! Impaired continence

[Term]
id: HP:0002608
name: Celiac disease
def: "Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases." [HPO:probinson, pmid:23681421]
synonym: "Celiac disease" EXACT layperson []
synonym: "Celiac sprue" EXACT []
xref: MSH:D002446
xref: SNOMEDCT_US:396331005
xref: UMLS:C0007570
is_a: HP:0002244 ! Abnormality of the small intestine
is_a: HP:0100326 ! Immunologic hypersensitivity

[Term]
id: HP:0002611
name: Cholestatic liver disease
xref: UMLS:C0860204
is_a: HP:0001396 ! Cholestasis

[Term]
id: HP:0002612
name: Congenital hepatic fibrosis
def: "The presence of fibrosis of that part of the liver with congenital onset." [HPO:probinson]
comment: Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis).
synonym: "Excessive buildup of connective tissue and scarring of liver at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:C562378
xref: SNOMEDCT_US:79607001
xref: UMLS:C0009714
is_a: HP:0001395 ! Hepatic fibrosis

[Term]
id: HP:0002613
name: Biliary cirrhosis
def: "Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease." [HPO:probinson]
synonym: "Primary biliary cirrhosis" RELATED []
xref: MSH:D008105
xref: SNOMEDCT_US:1761006
xref: SNOMEDCT_US:31712002
xref: UMLS:C0008312
xref: UMLS:C0023892
is_a: HP:0012440 ! Abnormal biliary tract morphology

[Term]
id: HP:0002614
name: Hepatic periportal necrosis
def: "A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein." [HPO:probinson]
xref: UMLS:C0546389
is_a: HP:0002605 ! Hepatic necrosis

[Term]
id: HP:0002615
name: Hypotension
alt_id: HP:0005127
alt_id: HP:0006701
def: "Low Blood Pressure, vascular hypotension." [HPO:probinson]
synonym: "Arterial hypotension" EXACT []
synonym: "Low blood pressure" EXACT layperson []
xref: MSH:D007022
xref: SNOMEDCT_US:45007003
xref: UMLS:C0020649
is_a: HP:0030972 ! Abnormal systemic blood pressure

[Term]
id: HP:0002616
name: Aortic root aneurysm
alt_id: HP:0002631
alt_id: HP:0004750
alt_id: HP:0005125
def: "An abnormal localized widening (dilatation) of the aortic root." []
synonym: "Aortic root dilatation" BROAD []
synonym: "Bulge in wall of root of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Increased aortic root diameter" EXACT []
xref: SNOMEDCT_US:251036003
xref: UMLS:C0238669
is_a: HP:0012727 ! Thoracic aortic aneurysm

[Term]
id: HP:0002617
name: Dilatation
def: "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Aneurysm" NARROW layperson []
synonym: "Aneurysmal dilatation" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Aneurysmal disease" RELATED layperson []
synonym: "Aneurysms" NARROW layperson [HPO:skoehler]
synonym: "Wider than typical opening or gap" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:2399
xref: MSH:D000783
xref: SNOMEDCT_US:432119003
xref: SNOMEDCT_US:85659009
xref: UMLS:C0002940
xref: UMLS:C4020848
is_a: HP:0025015 ! Abnormal vascular morphology

[Term]
id: HP:0002619
name: Varicose veins
def: "Enlarged and tortuous veins." [HPO:probinson]
xref: MSH:D014648
xref: SNOMEDCT_US:128060009
xref: SNOMEDCT_US:12856003
xref: SNOMEDCT_US:399989005
xref: UMLS:C0042345
is_a: HP:0005293 ! Venous insufficiency

[Term]
id: HP:0002621
name: Atherosclerosis
def: "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:probinson]
comment: Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon.
synonym: "Atherosclerotic cardiovascular disease" EXACT [http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel, ORCID:0000-0001-5208-3432]
synonym: "Narrowing and hardening of arteries" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D050197
xref: SNOMEDCT_US:38716007
xref: UMLS:C0004153
xref: UMLS:C4280569
is_a: HP:0002634 ! Arteriosclerosis

[Term]
id: HP:0002622
name: obsolete Dissecting aortic dilatation
is_obsolete: true
replaced_by: HP:0002647

[Term]
id: HP:0002623
name: Overriding aorta
def: "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [HPO:curators]
synonym: "Dextroposition of aorta" EXACT []
synonym: "Overriding aortic valve" EXACT []
xref: Fyler:1432
xref: SNOMEDCT_US:63934006
xref: UMLS:C0011818
xref: UMLS:C0265886
is_a: HP:0001679 ! Abnormal aortic morphology

[Term]
id: HP:0002624
name: Abnormal venous morphology
def: "An anomaly of vein." [HPO:probinson]
synonym: "Abnormal vein" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Venous abnormality" EXACT []
xref: UMLS:C0241665
is_a: HP:0025015 ! Abnormal vascular morphology

[Term]
id: HP:0002625
name: Deep venous thrombosis
def: "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected." [HPO:probinson]
synonym: "Blood clot in a deep vein" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Deep vein thrombosis" EXACT []
synonym: "Multiple deep venous thrombosis" EXACT []
xref: MSH:D020246
xref: SNOMEDCT_US:128053003
xref: UMLS:C0149871
is_a: HP:0004936 ! Venous thrombosis

[Term]
id: HP:0002626
name: Venous varicosities of celiac and mesenteric vessels
def: "Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein." [HPO:probinson]
xref: UMLS:C1857692
is_a: HP:0002619 ! Varicose veins

[Term]
id: HP:0002627
name: Right aortic arch with mirror image branching
def: "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery." [DDD:dbrown, HPO:sdoelken]
xref: UMLS:C4025695
is_a: HP:0012020 ! Right aortic arch

[Term]
id: HP:0002629
name: Gastrointestinal arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract." []
synonym: "GI arteriovenous malformation" EXACT HP:0045077 []
xref: UMLS:C0744321
is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0002630
name: Fat malabsorption
def: "Abnormality of the absorption of fat from the gastrointestinal tract." [HPO:probinson]
xref: SNOMEDCT_US:197494007
xref: UMLS:C0554103
is_a: HP:0002024 ! Malabsorption
is_a: HP:0002244 ! Abnormality of the small intestine

[Term]
id: HP:0002631
name: obsolete Dilatation of ascending aorta
is_obsolete: true
replaced_by: HP:0002616

[Term]
id: HP:0002632
name: Low-to-normal blood pressure
synonym: "Low-to-normal blood pressure" EXACT layperson []
synonym: "Low-to-normal BP" EXACT HP:0045077 []
xref: UMLS:C1866500
is_a: HP:0002615 ! Hypotension

[Term]
id: HP:0002633
name: Vasculitis
def: "Inflammation of blood vessel." [HPO:probinson]
synonym: "Angiitis" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Inflammation of blood vessel" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D014657
xref: SNOMEDCT_US:31996006
xref: UMLS:C0042384
is_a: HP:0025015 ! Abnormal vascular morphology

[Term]
id: HP:0002634
name: Arteriosclerosis
def: "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity." [HPO:probinson]
comment: Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries.
synonym: "Hardened artery wall" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D001161
xref: SNOMEDCT_US:107671003
xref: SNOMEDCT_US:28960008
xref: SNOMEDCT_US:72092001
xref: UMLS:C0003850
xref: UMLS:C4280568
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0002635
name: Type IV atherosclerotic lesion
def: "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion." [PMID:7648691]
synonym: "Atheromatosis" RELATED []
xref: MSH:D050197
xref: SNOMEDCT_US:38716007
xref: UMLS:C0004153
is_a: HP:0031678 ! Atherosclerotic lesion

[Term]
id: HP:0002636
name: Dilatation of an abdominal artery
def: "Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Aneurysm of an abdominal artery" NARROW []
xref: UMLS:C4025694
is_a: HP:0002617 ! Dilatation
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0002637
name: Cerebral ischemia
synonym: "Brain ischemia" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Cerebrovascular ischemia" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Disruption of blood oxygen supply to brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D002545
xref: SNOMEDCT_US:287731003
xref: SNOMEDCT_US:389100007
xref: UMLS:C0007786
xref: UMLS:C0917798
is_a: HP:0009145 ! Abnormal cerebral artery morphology
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0002638
name: Superficial thrombophlebitis
def: "Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson]
xref: SNOMEDCT_US:2477008
xref: UMLS:C1510431
is_a: HP:0004418 ! Thrombophlebitis

[Term]
id: HP:0002639
name: Budd-Chiari syndrome
def: "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience." [HPO:probinson, pmid:16265183]
xref: MSH:D006502
xref: SNOMEDCT_US:82385007
xref: UMLS:C0856761
is_a: HP:0030846 ! Abnormality of venous physiology

[Term]
id: HP:0002640
name: Hypertension associated with pheochromocytoma
def: "A type of hypertension associated with pheochromocytoma." [HPO:probinson]
xref: UMLS:C4025693
is_a: HP:0000822 ! Hypertension

[Term]
id: HP:0002641
name: Peripheral thrombosis
synonym: "Peripheral blood clot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849749
is_a: HP:0001977 ! Abnormal thrombosis

[Term]
id: HP:0002642
name: Arteriovenous fistulas of celiac and mesenteric vessels
xref: UMLS:C1857693
is_a: HP:0002624 ! Abnormal venous morphology
is_a: HP:0004947 ! Arteriovenous fistula

[Term]
id: HP:0002643
name: Neonatal respiratory distress
def: "Respiratory difficulty as newborn." [HPO:probinson]
synonym: "Infantile respiratory distress" EXACT layperson []
synonym: "Neonatal respiratory distress" EXACT layperson []
synonym: "Newborn respiratory distress" EXACT layperson []
synonym: "Respiratory distress, neonatal" EXACT layperson []
xref: UMLS:C0852283
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0002644
name: Abnormality of pelvic girdle bone morphology
def: "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs." [HPO:probinson]
synonym: "Abnormal shape of pelvic girdle bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the pelvic girdle" RELATED []
xref: UMLS:C4020847
is_a: HP:0011844 ! Abnormal appendicular skeleton morphology

[Term]
id: HP:0002645
name: Wormian bones
def: "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium." [HPO:probinson]
comment: Irregular, solated bones in the lambdoidal suture or at the fontanelles.
subset: hposlim_core
synonym: "Extra bones within cranial sutures" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Intra sutural bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Intrasutural bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Islands of bone within cranial sutures" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:113194005
xref: UMLS:C0222716
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0002647
name: Aortic dissection
alt_id: HP:0002622
def: "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators]
synonym: "Tear in inner wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:308546005
xref: UMLS:C0340643
is_a: HP:0001679 ! Abnormal aortic morphology

[Term]
id: HP:0002648
name: Abnormality of calvarial morphology
def: "The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain." [DDD:awilkie, HPO:probinson]
synonym: "Abnormal cranium morphology" EXACT []
synonym: "Abnormality of cranial bone morphology" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of skull bone morphology" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the shape of calvarium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the shape of cranium" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the shape of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormally shaped skull" EXACT layperson [ORCID:0000-0002-9353-5498]
xref: UMLS:C4025692
xref: UMLS:C4280260
is_a: HP:0002683 ! Abnormality of the calvaria

[Term]
id: HP:0002650
name: Scoliosis
alt_id: HP:0002770
alt_id: HP:0003303
alt_id: HP:0003317
alt_id: HP:0003415
def: "The presence of an abnormal lateral curvature of the spine." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal curving of the spine" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Curvature of spine" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved spine" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:4160
xref: MSH:D013121
xref: SNOMEDCT_US:111266001
xref: SNOMEDCT_US:64217002
xref: UMLS:C0037932
xref: UMLS:C0700208
is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column

[Term]
id: HP:0002651
name: Spondyloepimetaphyseal dysplasia
xref: SNOMEDCT_US:254062008
xref: UMLS:C0432211
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0002652
name: Skeletal dysplasia
alt_id: HP:0005685
def: "A general term describing features characterized by abnormal development of bones and connective tissues." [HPO:probinson]
comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of a congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities.
synonym: "Abnormal skeletal development" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010009
xref: SNOMEDCT_US:105985007
xref: SNOMEDCT_US:240190009
xref: UMLS:C0029422
xref: UMLS:C4280567
is_a: HP:0011842 ! Abnormality of skeletal morphology

[Term]
id: HP:0002653
name: Bone pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone." []
synonym: "Bone pain" EXACT layperson []
xref: SNOMEDCT_US:12584003
xref: UMLS:C0151825
is_a: HP:0011843 ! Abnormality of skeletal physiology
is_a: HP:0012531 ! Pain

[Term]
id: HP:0002654
name: Multiple epiphyseal dysplasia
xref: MSH:D010009
xref: SNOMEDCT_US:59708000
xref: UMLS:C0026760
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0002655
name: Spondyloepiphyseal dysplasia
alt_id: HP:0002776
alt_id: HP:0005893
def: "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)." [HPO:probinson]
synonym: "Spondyloepiphyseal dysplasia tarda" EXACT []
xref: MSH:D010009
xref: UMLS:C0038015
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0002656
name: Epiphyseal dysplasia
synonym: "Abnormal development of end part of bone" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal development of the ends of long bones in arms and legs" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:254080004
xref: UMLS:C0392476
xref: UMLS:C4280566
is_a: HP:0002652 ! Skeletal dysplasia
is_a: HP:0005930 ! Abnormality of epiphysis morphology

[Term]
id: HP:0002657
name: Spondylometaphyseal dysplasia
xref: MSH:C537501
xref: SNOMEDCT_US:702350003
xref: UMLS:C0700635
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0002659
name: Increased susceptibility to fractures
alt_id: HP:0002662
alt_id: HP:0002798
alt_id: HP:0005710
alt_id: HP:0005783
alt_id: HP:0005931
def: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken]
comment: This is a bundled term that will be made obsolete.
synonym: "Abnormal susceptibility to fractures" EXACT layperson []
synonym: "Bone fragility" EXACT layperson []
synonym: "Frequent broken bones" EXACT layperson []
synonym: "Increased bone fragility" EXACT layperson []
synonym: "Increased susceptibility to fractures" EXACT layperson []
synonym: "Increased tendency to fractures" EXACT layperson []
xref: UMLS:C1390474
is_a: HP:0011843 ! Abnormality of skeletal physiology

[Term]
id: HP:0002661
name: Painless fractures due to injury
def: "An increased tendency to fractures following trauma, with fractures occurring without pain." [HPO:curators]
synonym: "Painless fractures due to injury" EXACT layperson []
xref: UMLS:C1837602
is_a: HP:0002659 ! Increased susceptibility to fractures
is_a: HP:0010832 ! Abnormality of pain sensation

[Term]
id: HP:0002663
name: Delayed epiphyseal ossification
alt_id: HP:0005862
synonym: "Delayed epiphyseal maturation" EXACT []
synonym: "Delayed epiphyseal ossification" EXACT []
synonym: "Delayed maturation of end part of long bone" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Delayed opacification of the epiphyses" EXACT []
synonym: "Epiphyseal ossification delay" EXACT []
xref: UMLS:C1865200
xref: UMLS:C4280565
is_a: HP:0005930 ! Abnormality of epiphysis morphology
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0002664
name: Neoplasm
alt_id: HP:0003008
alt_id: HP:0006741
def: "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour)." [HPO:probinson]
comment: The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer.
synonym: "Abnormal tissue mass" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Cancer" RELATED layperson []
synonym: "Neoplasia" EXACT []
synonym: "Oncological abnormality" EXACT []
synonym: "Oncology" RELATED [HPO:probinson]
synonym: "Tumor" EXACT []
synonym: "Tumour" EXACT []
xref: MSH:D009369
xref: NCIT:C3262
xref: SNOMEDCT_US:108369006
xref: SNOMEDCT_US:363346000
xref: UMLS:C0006826
xref: UMLS:C0027651
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0002665
name: Lymphoma
def: "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:probinson]
synonym: "Cancer of lymphatic system" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D008223
xref: NCIT:C7065
xref: SNOMEDCT_US:115244002
xref: SNOMEDCT_US:118600007
xref: SNOMEDCT_US:188676008
xref: SNOMEDCT_US:21964009
xref: UMLS:C0024299
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0002666
name: Pheochromocytoma
def: "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:probinson]
synonym: "Chromaffin tumors" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D010673
xref: NCIT:C3326
xref: SNOMEDCT_US:302835009
xref: SNOMEDCT_US:399343007
xref: SNOMEDCT_US:85583005
xref: UMLS:C0031511
is_a: HP:0100634 ! Neuroendocrine neoplasm

[Term]
id: HP:0002667
name: Nephroblastoma
alt_id: HP:0000115
def: "The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children." [HPO:probinson]
comment: Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever.
synonym: "Wilm's tumor" EXACT []
synonym: "Wilms tumor" EXACT []
xref: MSH:D009396
xref: NCIT:C40407
xref: SNOMEDCT_US:25081006
xref: SNOMEDCT_US:302849000
xref: UMLS:C0027708
is_a: HP:0011794 ! Embryonal renal neoplasm

[Term]
id: HP:0002668
name: Paraganglioma
alt_id: HP:0002670
alt_id: HP:0003004
def: "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:probinson]
synonym: "Carotid body tumors" EXACT []
synonym: "Paragangliomas" EXACT [HPO:skoehler]
xref: MSH:D010235
xref: NCIT:C3308
xref: SNOMEDCT_US:127027008
xref: SNOMEDCT_US:253029009
xref: SNOMEDCT_US:302833002
xref: SNOMEDCT_US:72787006
xref: SNOMEDCT_US:803009
xref: UMLS:C0030421
is_a: HP:0100634 ! Neuroendocrine neoplasm

[Term]
id: HP:0002669
name: Osteosarcoma
def: "A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor." [HPO:probinson]
synonym: "Bone cell cancer" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Osteogenic sarcoma" EXACT []
xref: MSH:D012516
xref: NCIT:C9145
xref: SNOMEDCT_US:21708004
xref: SNOMEDCT_US:307576001
xref: UMLS:C0029463
is_a: HP:0010622 ! Neoplasm of the skeletal system
is_a: HP:0100242 ! Sarcoma

[Term]
id: HP:0002671
name: Basal cell carcinoma
def: "The presence of a basal cell carcinoma of the skin." [HPO:sdoelken]
comment: A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life.
synonym: "Basal cell carcinomas" EXACT []
synonym: "Basal cell epithelioma" EXACT []
synonym: "Basal cell nevus" EXACT []
synonym: "Basalioma" EXACT []
xref: MSH:D002280
xref: NCIT:C2921
xref: SNOMEDCT_US:1338007
xref: SNOMEDCT_US:254701007
xref: SNOMEDCT_US:275265005
xref: UMLS:C0007117
xref: UMLS:C1862314
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0002672
name: Gastrointestinal carcinoma
synonym: "GI carcinoma" EXACT HP:0045077 []
xref: UMLS:C0151544
is_a: HP:0006749 ! Malignant gastrointestinal tract tumors

[Term]
id: HP:0002673
name: Coxa valga
def: "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:probinson]
synonym: "Coxa valga deformity" RELATED [HPO:skoehler]
xref: MSH:D060906
xref: SNOMEDCT_US:299236004
xref: UMLS:C0239137
xref: UMLS:C3549698
is_a: HP:0003367 ! Abnormality of the femoral neck

[Term]
id: HP:0002676
name: Cloverleaf skull
alt_id: HP:0004477
alt_id: HP:0005459
def: "Trilobar skull configuration when viewed from the front or behind." [pmid:19125436]
comment: A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus.
subset: hposlim_core
synonym: "Cloverleaf cranium shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Cloverleaf skull shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Kleeblattschaedel" EXACT []
synonym: "Trilobar cranium shape" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Trilobar skull shape" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C1860050
xref: UMLS:C4280564
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0002677
name: Small foramen magnum
alt_id: HP:0005468
def: "An abnormal narrowing of the foramen magnum." [HPO:probinson]
comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord.
subset: hposlim_core
synonym: "Foramen magnum stenosis" EXACT []
synonym: "Hypoplasia of foramen magnum" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Little foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Narrow foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Stenosis of foramen magnum" NARROW [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:444879009
xref: UMLS:C1535953
xref: UMLS:C1861217
xref: UMLS:C4072838
is_a: HP:0002699 ! Abnormality of the foramen magnum

[Term]
id: HP:0002678
name: Skull asymmetry
synonym: "Abnormality of skull shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of skull shape" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Skull asymmetry" EXACT layperson []
synonym: "Unequal skull shape" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven skull shape" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:248372000
xref: UMLS:C0424690
xref: UMLS:C4280562
xref: UMLS:C4280563
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0002679
name: Abnormality of the sella turcica
def: "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the pituitary fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the pituitary fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the sella turcica" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021754
xref: UMLS:C4072839
is_a: HP:0000929 ! Abnormality of the skull

[Term]
id: HP:0002680
name: J-shaped sella turcica
def: "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [HPO:pnrobinson]
subset: hposlim_core
synonym: "Hour glass shaped hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hour glass shaped pituitary fossa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hour glass shaped sella turcica" EXACT [ORCID:0000-0001-5889-4463]
synonym: "J-shaped hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "J-shaped pituitary fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "J-shaped sella" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Omega shaped hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Omega shaped pituitary fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Omega shaped sella turcica" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1854718
xref: UMLS:C4072841
xref: UMLS:C4072842
is_a: HP:0002681 ! Deformed sella turcica

[Term]
id: HP:0002681
name: Deformed sella turcica
synonym: "Abnormal shape of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal shape of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal shape of sella turcica" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Malformation of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Malformation of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Malformation of sella turcica" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1846437
is_a: HP:0002679 ! Abnormality of the sella turcica

[Term]
id: HP:0002682
name: Broad skull
def: "Increased width of the skull." [HPO:probinson]
synonym: "Broad cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Broad skull" EXACT layperson []
synonym: "Increased width of cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased width of skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wide skull" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:248374004
xref: UMLS:C0424693
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0002683
name: Abnormality of the calvaria
def: "Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." [HPO:probinson]
comment: The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature.
synonym: "Abnormality of calvarium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of cranial vault" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of cranium" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the skull cap" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the skullcap" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025691
xref: UMLS:C4280561
is_a: HP:0000929 ! Abnormality of the skull

[Term]
id: HP:0002684
name: Thickened calvaria
def: "The presence of an abnormally thick calvaria." [HPO:curators]
synonym: "Calvarial thickening" EXACT []
synonym: "Calvarium thickened" EXACT []
synonym: "Increased calvarial thickness" EXACT []
synonym: "Increased thickness of calvaria" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased thickness of calvarium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased thickness of cranial vault" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased thickness of cranium" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased thickness of skull cap" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick calvaria" EXACT []
synonym: "Thick calvarium" EXACT []
synonym: "Thickened calvaria" EXACT []
synonym: "Thickened calvarium" EXACT []
synonym: "Thickened cranial vault" EXACT []
synonym: "Thickened cranium" EXACT []
synonym: "Thickened skull cap" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thickening of the calvaria" EXACT []
xref: UMLS:C1858452
xref: UMLS:C4280560
is_a: HP:0002683 ! Abnormality of the calvaria

[Term]
id: HP:0002686
name: Prenatal maternal abnormality
synonym: "Maternal health problem" RELATED layperson []
xref: UMLS:C4025690
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0002687
name: Abnormality of frontal sinus
def: "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of sinus frontalis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the forehead sinus" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025689
is_a: HP:0000245 ! Abnormality of the paranasal sinuses

[Term]
id: HP:0002688
name: Absent frontal sinuses
alt_id: HP:0005452
alt_id: HP:0005475
def: "Aplasia of frontal sinus." [HPO:probinson]
subset: hposlim_core
synonym: "Absence of frontal sinuses" EXACT []
synonym: "Absent frontal sinus" EXACT []
synonym: "Aplasia of frontal sinus" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Aplasia sinus frontalis" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Missing frontal sinus" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855669
xref: UMLS:C4280559
is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses

[Term]
id: HP:0002689
name: Absent paranasal sinuses
def: "Aplasia of the paranasal sinuses." [HPO:probinson]
synonym: "Absence of paranasal sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of paranasal sinuses" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Missing paranasal sinuses" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing sinuses" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1857131
xref: UMLS:C3804986
xref: UMLS:C4072844
is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses

[Term]
id: HP:0002690
name: Large sella turcica
alt_id: HP:0005444
def: "An abnormal enlargement of the sella turcica." [HPO:probinson]
subset: hposlim_core
synonym: "Big sella turcica" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Enlarged sella turcica" EXACT []
synonym: "Hyperplasia of hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of pituitary fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of sella turcica" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large hypophysial fossa" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Large pituitary fossa" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent sella turcica" EXACT []
xref: UMLS:C1843677
xref: UMLS:C4072845
xref: UMLS:C4072846
is_a: HP:0002679 ! Abnormality of the sella turcica

[Term]
id: HP:0002691
name: Platybasia
def: "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [HPO:probinson]
comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result.\nBasal Angle formed by:\nline joining the nasion with the centre of the pituitary fossa\nline joining the anterior border of the foramen magnum with the centre of the pituitary fossa\nnormal: 125 degrees-143 degrees\nplatybasia: > 143 degrees\nbasilar kyphosis: < 125 degrees {xref="ORCID:0000-0001-5889-4463"}
subset: hposlim_core
synonym: "Flattening of the skull base" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased basal angle of skull base" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Obtuse basal angle of skull base" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D010985
xref: SNOMEDCT_US:86587003
xref: UMLS:C0032209
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0002692
name: Hypoplastic facial bones
synonym: "Decreased size of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flattening of facial bones" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Flattening of facial skeleton" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of facial skeleton" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic facial bones" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic facial skeleton" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small facial bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Small facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of facial bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1846438
xref: UMLS:C4229090
xref: UMLS:C4280268
xref: UMLS:C4280557
xref: UMLS:C4280558
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0002693
name: Abnormality of the skull base
def: "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [HPO:curators]
synonym: "Abnormality of cranial base" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the skull base" EXACT layperson []
xref: UMLS:C4025688
is_a: HP:0000929 ! Abnormality of the skull

[Term]
id: HP:0002694
name: Sclerosis of skull base
alt_id: HP:0005757
def: "Increased bone density of the skull base without significant changes in bony contour." [HPO:probinson]
synonym: "Dense bone of skull base" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "HyperCalcification of skull base" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "HyperMineralization of skull base" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "HyperOssification of skull base" EXACT [ORCID:0000-0001-5889-4463]
synonym: "HyperOstosis of skull base" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Marked sclerosis of skull base" EXACT []
synonym: "Sclerosis of cranial base" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Sclerosis of the skull base" EXACT []
synonym: "Sclerotic skull base" EXACT []
xref: UMLS:C1851714
xref: UMLS:C4072847
xref: UMLS:C4072848
is_a: HP:0002693 ! Abnormality of the skull base
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0002695
name: Symmetrical, oval parietal bone defects
synonym: "Symmetrical, oval defects in the parietal bone" EXACT []
xref: UMLS:C1865045
is_a: HP:0002696 ! Abnormal parietal bone morphology

[Term]
id: HP:0002696
name: Abnormal parietal bone morphology
def: "Any abnormality of the parietal bone of the skull." [HPO:curators]
synonym: "Abnormality of the parietal bone" EXACT []
synonym: "Abnormality of the parietal bone of skull" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021834
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0002697
name: Parietal foramina
def: "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide." [HPO:probinson]
comment: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy.
synonym: "Holes in parietal bones" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Openings in parietal bones" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Persistent foramina of the parietal bones" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:11240000
xref: SNOMEDCT_US:29307005
xref: UMLS:C0222706
xref: UMLS:C4280556
is_a: HP:0002696 ! Abnormal parietal bone morphology

[Term]
id: HP:0002699
name: Abnormality of the foramen magnum
def: "Any abnormality of the foramen magnum." [HPO:probinson]
comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull.
subset: hposlim_core
xref: UMLS:C4025687
is_a: HP:0000929 ! Abnormality of the skull

[Term]
id: HP:0002700
name: Large foramen magnum
def: "An abnormal increase in the size of the foramen magnum." [HPO:curators]
subset: hposlim_core
synonym: "Big foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Dilation of foramen magnum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "enlarged foramen magnum" EXACT []
synonym: "Hyperplasia of foramen magnum" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Increased circumference of foramen magnum" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Increased diameter of foramen magnum" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Wide foramen magnum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1844508
xref: UMLS:C4073291
xref: UMLS:C4280554
xref: UMLS:C4280555
is_a: HP:0002699 ! Abnormality of the foramen magnum

[Term]
id: HP:0002703
name: Abnormality of skull ossification
def: "An abnormality of the process of ossification of the skull." [HPO:probinson]
comment: The bones of the skull derive directly from mesenchyme cells by intramembranous ossification.
synonym: "Abnormality of bone calcification of calvarium" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of bone calcification of cranium" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of bone calcification of skull" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of bone formation of calvarium" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of bone formation of cranium" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of bone mineralization of calvarium" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of bone mineralization of cranium" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of bone mineralization of skull" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of ossification of calvarium" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of ossification of cranium" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of skull bone formation" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025686
xref: UMLS:C4280550
xref: UMLS:C4280551
xref: UMLS:C4280552
xref: UMLS:C4280553
is_a: HP:0000929 ! Abnormality of the skull
created_by: peter
creation_date: 2008-02-28T11:53:00Z

[Term]
id: HP:0002705
name: High, narrow palate
def: "The presence of a high and narrow palate." [HPO:curators]
synonym: "Gothic palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "High arched palate" EXACT []
synonym: "High narrow palate" EXACT []
synonym: "High vaulted palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "High, narrow palate" EXACT layperson []
synonym: "Narrow and high arched palate" EXACT []
synonym: "Narrow, high-arched palate" EXACT []
synonym: "Narrow, high-arched roof of mouth" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Narrow, highly arched palate" EXACT []
synonym: "Narrow, highly arched roof of mouth" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Palate high-arched" EXACT []
synonym: "Palate, high-arched" EXACT []
xref: UMLS:C1837404
is_a: HP:0000189 ! Narrow palate
is_a: HP:0000218 ! High palate

[Term]
id: HP:0002707
name: Palate telangiectasia
alt_id: HP:0000229
def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [HPO:curators]
synonym: "Palatal angioectasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Palatal spider veins" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Palatal telangiectasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Palate telangiectases" EXACT []
synonym: "Palate teleangiectases" EXACT []
synonym: "Spider veins of the roof of the mouth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Telangiectasia of the roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1857699
xref: UMLS:C4280267
is_a: HP:0000174 ! Abnormal palate morphology
is_a: HP:0000228 ! Oral cavity telangiectasia

[Term]
id: HP:0002708
name: Prominent median palatal raphe
def: "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate." [HPO:curators]
synonym: "Prominent central palatal ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent central ridge on roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent medial palatal suture" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1845108
is_a: HP:0000174 ! Abnormal palate morphology

[Term]
id: HP:0002710
name: Commissural lip pit
def: "A depression located at an oral commissure." [HPO:sdoelken, pmid:19125428]
comment: Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture.
subset: hposlim_core
synonym: "Commissural labial pits" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Commissural pit" EXACT []
synonym: "Lip pits at corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Pits at the corners of the lips" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0399605
is_a: HP:0100267 ! Lip pit

[Term]
id: HP:0002711
name: Exaggerated median tongue furrow
def: "Increased depth of the median tongue furrow." [HPO:probinson]
synonym: "Deep central lingual furrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deep central lingual groove" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deep central tongue furrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deep central tongue groove" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deep median lingual furrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deep median lingual groove" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deep median tongue furrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deep median tongue groove" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Exaggerated median lingual furrow" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1845109
is_a: HP:0000221 ! Furrowed tongue

[Term]
id: HP:0002714
name: Downturned corners of mouth
alt_id: HP:0000192
def: "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [HPO:probinson, pmid:19125428]
comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms).
subset: hposlim_core
synonym: "Downturned corners of mouth" EXACT layperson []
synonym: "Downturned corners of the mouth" EXACT layperson []
synonym: "Downturned mouth" EXACT layperson []
synonym: "Downturned oral commisures" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1866195
is_a: HP:0011338 ! Abnormality of mouth shape

[Term]
id: HP:0002715
name: Abnormality of the immune system
alt_id: HP:0003257
alt_id: HP:0003346
alt_id: HP:0010986
def: "An abnormality of the immune system." [HPO:probinson]
comment: The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.
synonym: "Abnormality of the immune system" EXACT layperson []
synonym: "Immunological abnormality" EXACT layperson []
xref: UMLS:C4021753
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0002716
name: Lymphadenopathy
alt_id: HP:0002735
def: "Enlargment (swelling) of a lymph node." [HPO:probinson]
synonym: "Lymph node hyperplasia" EXACT []
synonym: "Swollen lymph nodes" EXACT layperson []
xref: MSH:D000072281
xref: SNOMEDCT_US:30746006
xref: UMLS:C0497156
is_a: HP:0002733 ! Abnormality of the lymph nodes

[Term]
id: HP:0002717
name: Adrenal overactivity
comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex.
xref: UMLS:C4025685
is_a: HP:0011733 ! Abnormality of adrenal physiology
created_by: peter
creation_date: 2008-02-25T10:41:00Z

[Term]
id: HP:0002718
name: Recurrent bacterial infections
alt_id: HP:0005355
alt_id: HP:0005361
alt_id: HP:0005367
alt_id: HP:0005391
alt_id: HP:0005393
alt_id: HP:0005410
def: "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection." [HPO:probinson]
synonym: "Bacterial infections, recurrent" EXACT layperson []
synonym: "Frequent bacterial infections" EXACT layperson []
synonym: "Frequent pyogenic infections" EXACT []
synonym: "Increased susceptibility to bacterial infections" EXACT layperson []
synonym: "Prone to bacterial infection" RELATED layperson []
synonym: "Recurrent bacterial infections" EXACT layperson []
synonym: "Recurrent major bacterial infections" EXACT layperson []
synonym: "Recurrent pyogenic infections" EXACT []
synonym: "Susceptibility to pyogenic infection" EXACT []
xref: SNOMEDCT_US:428875002
xref: UMLS:C1844383
xref: UMLS:C2748958
xref: UMLS:C4020846
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0002719
name: Recurrent infections
alt_id: HP:0002957
alt_id: HP:0002964
alt_id: HP:0005405
def: "Increased susceptibility to infections." [HPO:probinson, HPO:skoehler]
synonym: "Frequent infections" EXACT layperson []
synonym: "Frequent, severe infections" EXACT layperson []
synonym: "Increased frequency of infection" EXACT layperson []
synonym: "infections, recurrent" EXACT layperson [HPO:skoehler]
synonym: "Predisposition to infections" EXACT layperson []
synonym: "Recurrent infections" EXACT layperson []
synonym: "Susceptibility to infection" EXACT layperson []
xref: UMLS:C0239998
is_a: HP:0032101 ! Unusual infection

[Term]
id: HP:0002720
name: Decreased circulating IgA level
alt_id: HP:0005358
alt_id: HP:0005399
alt_id: HP:0005431
alt_id: HP:0008350
def: "Decreased levels of immunoglobulin A (IgA)." [HPO:probinson]
synonym: "Decreased IgA" EXACT []
synonym: "Decreased immunoglobulin A" EXACT []
synonym: "Gamma-A globulin deficiency" EXACT []
synonym: "IgA deficiency" EXACT []
synonym: "Low levels of immunoglobulin A" EXACT []
synonym: "Reduced IgA levels" EXACT []
xref: MSH:D017098
xref: SNOMEDCT_US:29260007
xref: UMLS:C0162538
is_a: HP:0004313 ! Decreased antibody level in blood
is_a: HP:0410240 ! Abnormal IgA level

[Term]
id: HP:0002721
name: Immunodeficiency
alt_id: HP:0005362
alt_id: HP:0005371
def: "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227]
synonym: "Decreased immune function" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Immune deficiency" EXACT []
xref: MSH:D007153
xref: SNOMEDCT_US:234532001
xref: UMLS:C0021051
is_a: HP:0010978 ! Abnormality of immune system physiology

[Term]
id: HP:0002722
name: Recurrent abscess formation
def: "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses." [HPO:probinson]
xref: UMLS:C4025684
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0002723
name: Absence of bactericidal oxidative respiratory burst in phagocytes
def: "An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity." [GO:0045728]
xref: UMLS:C1844385
is_a: HP:0010977 ! Abnormal phagocytosis

[Term]
id: HP:0002724
name: Recurrent Aspergillus infections
def: "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections." [HPO:probinson]
synonym: "Aspergillus infections, recurrent" EXACT [HPO:skoehler]
xref: UMLS:C4021752
is_a: HP:0002841 ! Recurrent fungal infections

[Term]
id: HP:0002725
name: Systemic lupus erythematosus
def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [HPO:probinson]
comment: This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease.
synonym: "SLE" EXACT HP:0045077 []
xref: MSH:D008180
xref: SNOMEDCT_US:55464009
xref: UMLS:C0024141
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0002726
name: Recurrent Staphylococcus aureus infections
def: "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection." [HPO:probinson]
synonym: "Staphylococcus aureus infections, recurrent" EXACT [HPO:skoehler]
xref: UMLS:C2673462
is_a: HP:0007499 ! Recurrent staphylococcal infections

[Term]
id: HP:0002728
name: Chronic mucocutaneous candidiasis
alt_id: HP:0005392
def: "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails." [HPO:probinson, pmid:20859203]
comment: The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders.
synonym: "Chronic candidiasis of mucosa, skin and nails" EXACT []
synonym: "Mucocutaneous candidiasis" EXACT []
xref: MSH:D002178
xref: SNOMEDCT_US:234568006
xref: UMLS:C0006845
is_a: HP:0011370 ! Recurrent cutaneous fungal infections

[Term]
id: HP:0002729
name: Follicular hyperplasia
def: "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [HPO:probinson, PMID:23281438]
comment: Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96).
xref: UMLS:C4014733
is_a: HP:0002716 ! Lymphadenopathy

[Term]
id: HP:0002730
name: Chronic noninfectious lymphadenopathy
def: "A chronic form of lymphadenopathy that is not related to infection." [HPO:probinson]
xref: UMLS:C1858970
is_a: HP:0002716 ! Lymphadenopathy

[Term]
id: HP:0002731
name: Decreased lymphocyte apoptosis
def: "A reduction in the rate of apoptosis in lymphocytes." [HPO:probinson]
comment: Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis.
synonym: "Defective lymphocyte apoptosis" EXACT []
xref: UMLS:C1858969
is_a: HP:0030886 ! Abnormal lymphocyte apoptosis

[Term]
id: HP:0002732
name: Lymph node hypoplasia
def: "Underdevelopment of the lymph nodes." [HPO:probinson]
synonym: "Small lymph nodes" RELATED layperson []
xref: UMLS:C1865377
xref: UMLS:C4025683
is_a: HP:0002733 ! Abnormality of the lymph nodes

[Term]
id: HP:0002733
name: Abnormality of the lymph nodes
alt_id: HP:0008149
def: "A lymph node abnormality." [HPO:probinson]
synonym: "Abnormal lymph node histology" EXACT layperson []
synonym: "Abnormality of the lymph nodes" EXACT layperson []
xref: UMLS:C0149727
is_a: HP:0100763 ! Abnormality of the lymphatic system

[Term]
id: HP:0002737
name: Thick skull base
synonym: "Increased thickness of bone of skull base" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased thickness of skull base" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick skull base" EXACT layperson []
xref: UMLS:C1839507
is_a: HP:0002693 ! Abnormality of the skull base

[Term]
id: HP:0002738
name: Hypoplastic frontal sinuses
def: "Underdevelopment of frontal sinus." [HPO:probinson]
synonym: "Decreased pneumatization of frontal sinus" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of frontal sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic frontal sinus" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small frontal sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdeveloped frontal sinuses" EXACT []
xref: UMLS:C1859682
xref: UMLS:C4280548
xref: UMLS:C4280549
is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses

[Term]
id: HP:0002740
name: Recurrent E. coli infections
def: "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent." [HPO:probinson]
synonym: "E coli infections" EXACT []
synonym: "E coli infections, recurrent" EXACT [HPO:skoehler]
xref: MSH:D004927
xref: SNOMEDCT_US:71057007
xref: UMLS:C0014836
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0002741
name: Recurrent Serratia marcescens infections
def: "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection." [HPO:probinson]
xref: UMLS:C4025682
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0002742
name: Recurrent Klebsiella infections
def: "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection." [HPO:probinson]
synonym: "Klebsiella infections, recurrent" EXACT [HPO:skoehler]
xref: UMLS:C4021751
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0002743
name: Recurrent enteroviral infections
def: "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection." [HPO:probinson]
xref: UMLS:C4025681
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0002744
name: Bilateral cleft lip and palate
def: "Cleft lip and cleft palate affecting both sides of the face." [HPO:probinson]
synonym: "Bilateral cleft lip and cleft palate" EXACT []
synonym: "Right and left cleft lip and palate" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:1085331000119107
xref: UMLS:C1398522
is_a: HP:0100336 ! Bilateral cleft lip
is_a: HP:0100337 ! Bilateral cleft palate

[Term]
id: HP:0002745
name: Oral leukoplakia
def: "A thickened white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, pmid:17944749]
comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart.
subset: hposlim_core
synonym: "leukokeratosis" EXACT [HPO:SKOEHLER]
synonym: "Oral idiopathic keratosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral idiopathic leukoplakia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral idiopathic white patch" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral leucoplakia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral leukokeratosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral leukoplasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral white patch" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Oral white plaque" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D007971
xref: MSH:D007972
xref: SNOMEDCT_US:414603003
xref: SNOMEDCT_US:9187004
xref: UMLS:C0023532
xref: UMLS:C1704317
is_a: HP:0025125 ! White lesion of the oral mucosa

[Term]
id: HP:0002747
name: Respiratory insufficiency due to muscle weakness
alt_id: HP:0004882
alt_id: HP:0004888
synonym: "Decreased lung function due to weak breathing muscles" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Decreased respiratory function due to muscle weakness" EXACT []
synonym: "Respiratory distress due to muscle weakness" EXACT []
synonym: "Respiratory failure due to muscle weakness" EXACT []
synonym: "Respiratory muscle weakness" EXACT []
xref: UMLS:C3806467
is_a: HP:0002093 ! Respiratory insufficiency
is_a: HP:0004347 ! Weakness of muscles of respiration

[Term]
id: HP:0002748
name: Rickets
def: "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets." [GARD:0005700]
synonym: "Weak and soft bones" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D012279
xref: SNOMEDCT_US:41345002
xref: UMLS:C0035579
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0002749
name: Osteomalacia
def: "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators]
synonym: "Softening of the bones" EXACT layperson []
xref: SNOMEDCT_US:4598005
xref: UMLS:C0029442
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0002750
name: Delayed skeletal maturation
alt_id: HP:0000928
alt_id: HP:0002806
def: "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
synonym: "Delayed bone age" EXACT []
synonym: "Delayed bone age before puberty" EXACT []
synonym: "Delayed bone maturation" EXACT layperson []
synonym: "Delayed skeletal development" EXACT layperson []
synonym: "Retarded bone age" EXACT []
synonym: "Retarded ossification" RELATED []
synonym: "Skeletal maturation retardation" EXACT []
xref: SNOMEDCT_US:123983008
xref: UMLS:C0541764
is_a: HP:0000927 ! Abnormality of skeletal maturation

[Term]
id: HP:0002751
name: Kyphoscoliosis
alt_id: HP:0003412
alt_id: HP:0003424
alt_id: HP:0004593
alt_id: HP:0005728
def: "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane." [HPO:probinson]
xref: SNOMEDCT_US:405773007
xref: UMLS:C0575158
is_a: HP:0002650 ! Scoliosis
is_a: HP:0002808 ! Kyphosis

[Term]
id: HP:0002752
name: Sparse bone trabeculae
xref: UMLS:C1833324
is_a: HP:0100671 ! Abnormal trabecular bone morphology

[Term]
id: HP:0002753
name: Thin bony cortex
alt_id: HP:0003104
def: "Abnormal thinning of the cortical region of bones." [HPO:curators]
synonym: "Thin cortices" EXACT []
xref: UMLS:C1833325
is_a: HP:0003103 ! Abnormal cortical bone morphology

[Term]
id: HP:0002754
name: Osteomyelitis
alt_id: HP:0002755
alt_id: HP:0005901
def: "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism." [HPO:probinson, PMID:15276398]
comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents.
synonym: "Bone infection" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010019
xref: SNOMEDCT_US:111253001
xref: SNOMEDCT_US:60168000
xref: UMLS:C0029443
xref: UMLS:C2242472
is_a: HP:0011843 ! Abnormality of skeletal physiology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0002755
name: obsolete Osteomyelitis due to immunodeficiency
is_obsolete: true
replaced_by: HP:0002754

[Term]
id: HP:0002756
name: Pathologic fracture
alt_id: HP:0005633
def: "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators]
synonym: "Pathologic fractures" RELATED [HPO:skoehler]
synonym: "Spontaneous fracture" EXACT layperson []
synonym: "Spontaneous fractures" RELATED [HPO:skoehler]
xref: MSH:D005598
xref: SNOMEDCT_US:22640007
xref: SNOMEDCT_US:268029009
xref: UMLS:C0016663
is_a: HP:0002659 ! Increased susceptibility to fractures

[Term]
id: HP:0002757
name: Recurrent fractures
alt_id: HP:0002660
alt_id: HP:0002767
alt_id: HP:0002809
def: "The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
comment: This term will be made obsolete. The annotations need to be checked.
synonym: "Frequent fractures" EXACT []
synonym: "Increased fracture rate" EXACT layperson []
synonym: "Increased fractures" EXACT layperson []
synonym: "Multiple fractures" EXACT layperson []
synonym: "Multiple spontaneous fractures" EXACT layperson []
synonym: "Recurrent fractures" EXACT layperson []
synonym: "Varying degree of multiple fractures" EXACT layperson []
xref: MSH:D000069076
xref: SNOMEDCT_US:134291007
xref: SNOMEDCT_US:5468008
xref: UMLS:C0016655
xref: UMLS:C1833752
xref: UMLS:C3805574
xref: UMLS:C3806283
is_a: HP:0002659 ! Increased susceptibility to fractures

[Term]
id: HP:0002758
name: Osteoarthritis
alt_id: HP:0001379
alt_id: HP:0002824
alt_id: HP:0005762
def: "Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity." []
synonym: "Degenerative joint disease" EXACT layperson []
xref: MSH:D010003
xref: SNOMEDCT_US:225655006
xref: SNOMEDCT_US:396275006
xref: UMLS:C0029408
is_a: HP:0001369 ! Arthritis

[Term]
id: HP:0002761
name: Generalized joint laxity
def: "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators]
synonym: "Hypermobility of all joints" EXACT layperson []
synonym: "Increased joint mobility" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Joint laxity, generalized" RELATED [HPO:skoehler]
xref: UMLS:C1836308
is_a: HP:0001382 ! Joint hypermobility

[Term]
id: HP:0002762
name: Multiple exostoses
def: "Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson]
xref: MSH:D005097
xref: SNOMEDCT_US:254044004
xref: UMLS:C0015306
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0002763
name: Abnormal cartilage morphology
def: "Any morphological abnormality of cartilage." [HPO:probinson]
synonym: "Abnormal shape of cartilage" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025680
is_a: HP:0011842 ! Abnormality of skeletal morphology

[Term]
id: HP:0002764
name: Stippled chondral calcification
xref: UMLS:C4025679
is_a: HP:0002832 ! Calcific stippling
is_a: HP:0100593 ! Calcification of cartilage

[Term]
id: HP:0002766
name: Relatively short spine
synonym: "Relatively short spine" EXACT layperson []
xref: UMLS:C3277114
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column

[Term]
id: HP:0002773
name: obsolete Small vertebral bodies
is_obsolete: true
replaced_by: HP:0008479

[Term]
id: HP:0002777
name: Tracheal stenosis
synonym: "Narrowing of windpipe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D014135
xref: SNOMEDCT_US:11296007
xref: UMLS:C0040583
is_a: HP:0002778 ! Abnormal trachea morphology

[Term]
id: HP:0002778
name: Abnormal trachea morphology
def: "A structural anomaly of the trachea." [HPO:probinson]
synonym: "Abnormality of the trachea" EXACT []
synonym: "Tracheal disease" RELATED []
xref: MSH:D014133
xref: SNOMEDCT_US:47125007
xref: UMLS:C0040580
xref: UMLS:C4025678
is_a: HP:0005607 ! Abnormal tracheobronchial morphology

[Term]
id: HP:0002779
name: Tracheomalacia
synonym: "Floppy widepipe" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D055090
xref: SNOMEDCT_US:95434006
xref: UMLS:C0948187
is_a: HP:0002778 ! Abnormal trachea morphology

[Term]
id: HP:0002780
name: Bronchomalacia
xref: MSH:D055091
xref: SNOMEDCT_US:54203008
xref: UMLS:C0264353
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0002781
name: Upper airway obstruction
def: "Increased resistance to the passage of air in the upper airway." [HPO:probinson]
subset: hposlim_core
synonym: "Upper airway obstruction" EXACT layperson []
xref: UMLS:C0740852
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0002783
name: Recurrent lower respiratory tract infections
alt_id: HP:0004884
alt_id: HP:0005955
def: "An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections." [HPO:probinson]
synonym: "Chronic lung infections" EXACT []
synonym: "Lower respiratory tract infections" EXACT []
synonym: "Recurrent chest infections" EXACT layperson []
xref: SNOMEDCT_US:448739000
xref: SNOMEDCT_US:50417007
xref: UMLS:C0149725
xref: UMLS:C0585953
xref: UMLS:C3163798
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0002786
name: Tracheobronchomalacia
def: "Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways." [HPO:probinson]
xref: MSH:D055089
xref: SNOMEDCT_US:233788001
xref: UMLS:C0340231
is_a: HP:0002779 ! Tracheomalacia
is_a: HP:0002780 ! Bronchomalacia

[Term]
id: HP:0002787
name: Tracheal calcification
def: "Calcification (abnormal deposits of calcium) in the tracheal tissues." [HPO:probinson, pmid:18663210]
synonym: "Calcification of the trachea" EXACT []
synonym: "Tracheal calcifications" EXACT []
synonym: "Tracheal ectopic calcification" EXACT []
xref: SNOMEDCT_US:81089005
xref: UMLS:C0264324
is_a: HP:0002778 ! Abnormal trachea morphology
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0002788
name: Recurrent upper respiratory tract infections
alt_id: HP:0001740
alt_id: HP:0002784
def: "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [HPO:probinson]
synonym: "Frequent upper respiratory infections" EXACT []
synonym: "Frequent upper respiratory tract infections" EXACT []
synonym: "Recurrent colds" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT []
synonym: "Recurrent upper respiratory infection" EXACT []
synonym: "Recurrent upper respiratory infections" EXACT []
synonym: "Recurrent URI" EXACT HP:0045077 []
synonym: "Upper respiratory tract infections" EXACT []
synonym: "Upper respiratory tract infections, recurrent" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:195708003
xref: UMLS:C0581381
is_a: HP:0001739 ! Abnormality of the nasopharynx
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0002789
name: Tachypnea
alt_id: HP:0002874
alt_id: HP:0004346
def: "Very rapid breathing." [HPO:probinson]
comment: In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute.
synonym: "Increased respiratory rate or depth of breathing" EXACT layperson []
synonym: "Polypnea" EXACT []
xref: MSH:D059246
xref: SNOMEDCT_US:271823003
xref: UMLS:C0231835
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002790
name: Neonatal breathing dysregulation
synonym: "Impaired breathing in newborn" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3806216
is_a: HP:0005957 ! Breathing dysregulation

[Term]
id: HP:0002791
name: Hypoventilation
alt_id: HP:0004892
def: "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)." [HPO:probinson]
comment: Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal.
synonym: "Alveolar hypoventilation" EXACT []
synonym: "Respiratory depression" RELATED []
synonym: "Slow breathing" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Under breathing" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D007040
xref: MSH:D012131
xref: SNOMEDCT_US:15993004
xref: SNOMEDCT_US:31515003
xref: SNOMEDCT_US:80954004
xref: UMLS:C0235063
xref: UMLS:C3203358
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002792
name: Reduced vital capacity
def: "An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung." [HPO:probinson]
synonym: "Decreased vital capacity" EXACT []
xref: SNOMEDCT_US:274715008
xref: SNOMEDCT_US:607007
xref: UMLS:C0476408
xref: UMLS:C0520831
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0002793
name: Abnormal pattern of respiration
def: "An anomaly of the rhythm or depth of breathing." [HPO:probinson]
synonym: "Abnormal pattern of respiration" EXACT layperson []
synonym: "Abnormal respiratory patterns" EXACT layperson []
synonym: "Unusual breathing patterns" EXACT layperson []
xref: UMLS:C1837388
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0002795
name: Functional respiratory abnormality
comment: This category describes not-primarily structural lesions.
synonym: "Abnormal respiration" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Functional respiratory abnormality" EXACT layperson []
synonym: "Respiratory problem" RELATED layperson []
xref: Fyler:4200
xref: UMLS:C4025677
is_a: HP:0002086 ! Abnormality of the respiratory system

[Term]
id: HP:0002797
name: Osteolysis
alt_id: HP:0010737
def: "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." [HPO:probinson]
comment: Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms.
synonym: "Breakdown of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Increased bone resorption" EXACT [HPO:sdoelken]
synonym: "Osteolytic defects of bones" EXACT []
xref: MSH:D010014
xref: SNOMEDCT_US:203522001
xref: SNOMEDCT_US:30425001
xref: UMLS:C0221204
is_a: HP:0003330 ! Abnormal bone structure

[Term]
id: HP:0002803
name: Congenital contracture
def: "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth." [HPO:probinson]
synonym: "congenital contractures" EXACT [HPO:skoehler]
synonym: "Congenital joint contractures" EXACT []
xref: UMLS:C0332878
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0002804
name: Arthrogryposis multiplex congenita
alt_id: HP:0001389
alt_id: HP:0001390
alt_id: HP:0002759
alt_id: HP:0005188
alt_id: HP:0005663
alt_id: HP:0005809
alt_id: HP:0005859
def: "Multiple congenital contractures in different body areas." [HPO:probinson, PMID:23050160]
comment: Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature.
synonym: "Arthrogryposis" EXACT []
synonym: "Arthrogryposis multiplex" EXACT []
synonym: "Arthrogryposis, congenital" EXACT []
synonym: "Multiple congenital contractures" EXACT []
xref: MSH:D001176
xref: SNOMEDCT_US:111246005
xref: SNOMEDCT_US:77016009
xref: UMLS:C0003886
is_a: HP:0002803 ! Congenital contracture

[Term]
id: HP:0002805
name: Accelerated bone age after puberty
synonym: "Accelerated bone age after puberty" EXACT layperson []
xref: UMLS:C1860825
is_a: HP:0005616 ! Accelerated skeletal maturation

[Term]
id: HP:0002808
name: Kyphosis
alt_id: HP:0002769
alt_id: HP:0003314
def: "Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson]
subset: hposlim_core
synonym: "Gibbus deformity" EXACT []
synonym: "Hunched back" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Hyperkyphosis" EXACT []
synonym: "Round back" EXACT layperson []
xref: MSH:D007738
xref: SNOMEDCT_US:414564002
xref: UMLS:C0022821
xref: UMLS:C1845112
is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column

[Term]
id: HP:0002810
name: Dumbbell-shaped metaphyses
alt_id: HP:0005079
synonym: "Dumbbell shaped metaphyses" EXACT []
synonym: "Dumbbell shaped metaphysis" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Dumbbell shaped wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3277123
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0002812
name: Coxa vara
def: "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees." [HPO:probinson]
comment: The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired.
xref: MSH:D060905
xref: SNOMEDCT_US:74820003
xref: UMLS:C0239138
is_a: HP:0003367 ! Abnormality of the femoral neck

[Term]
id: HP:0002813
name: Abnormality of limb bone morphology
def: "Any abnormality of bones of the arms or legs." [HPO:probinson]
synonym: "Abnormal shape of limb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Arm and/or leg bone differences" EXACT layperson []
synonym: "Limb abnormality" EXACT layperson []
xref: UMLS:C4082761
is_a: HP:0011844 ! Abnormal appendicular skeleton morphology
is_a: HP:0040068 ! Abnormality of limb bone

[Term]
id: HP:0002814
name: Abnormality of the lower limb
def: "An abnormality of the leg." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the leg" EXACT []
synonym: "Abnormality of the lower limb" EXACT layperson []
synonym: "Lower limb deformities" EXACT layperson []
xref: SNOMEDCT_US:449715001
xref: UMLS:C1096086
is_a: HP:0040064 ! Abnormality of limbs

[Term]
id: HP:0002815
name: Abnormality of the knee
def: "An abnormality of the knee joint or surrounding structures." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the knee" EXACT layperson []
xref: UMLS:C4025676
is_a: HP:0100491 ! Abnormality of lower limb joint

[Term]
id: HP:0002816
name: Genu recurvatum
def: "An abnormally increased extension of the knee joint, so that the knee can bend backwards." [HPO:probinson, pmid:9580896]
comment: Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension.
subset: hposlim_core
synonym: "Back knee" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, ORCID:0000-0001-6908-9849]
synonym: "Genu recurvata" EXACT []
synonym: "Knee hyperextension" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, ORCID:0000-0001-6908-9849]
xref: MEDDRA:10018194 "Genu recurvatum"
xref: UMLS:C0546964
is_a: HP:0010500 ! Hyperextensibility of the knee

[Term]
id: HP:0002817
name: Abnormality of the upper limb
alt_id: HP:0003838
def: "An abnormality of the arm." [HPO:probinson]
synonym: "Abnormality of the arm" EXACT []
synonym: "Abnormality of the upper limb" EXACT layperson []
xref: UMLS:C4020900
is_a: HP:0040064 ! Abnormality of limbs

[Term]
id: HP:0002818
name: Abnormality of the radius
def: "An abnormality of the radius." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4025675
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0002821
name: Neuropathic arthropathy
synonym: "Charcot arthropathy" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Charcot joint" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D001177
xref: SNOMEDCT_US:359554008
xref: SNOMEDCT_US:67536000
xref: UMLS:C0003892
is_a: HP:0003040 ! Arthropathy

[Term]
id: HP:0002822
name: Hyperplasia of the femoral trochanters
synonym: "Hyperplastic femoral trochanters" EXACT []
xref: UMLS:C3277120
is_a: HP:0003366 ! Abnormality of the femoral neck or head region

[Term]
id: HP:0002823
name: Abnormality of femur morphology
alt_id: HP:0001439
def: "Any anomaly of the structure of the femur." [HPO:probinson]
comment: The femur (plural: femora) is the thigh bone.
synonym: "Abnormality of the femora" EXACT []
synonym: "Abnormality of the thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021750
is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs

[Term]
id: HP:0002825
name: Caudal appendage
def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson]
subset: hposlim_core
synonym: "Coccygeal tail" EXACT []
synonym: "Human tail" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C3277117
is_a: HP:0008519 ! Abnormality of the coccyx

[Term]
id: HP:0002826
name: Halberd-shaped pelvis
def: "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle)." [HPO:probinson, PMID:19232556]
synonym: "Halberd-shaped pelvis bone" EXACT []
xref: UMLS:C3277119
is_a: HP:0040163 ! Abnormal pelvis bone morphology

[Term]
id: HP:0002827
name: Hip dislocation
alt_id: HP:0001375
def: "Displacement of the femur from its normal location in the hip joint." [HPO:probinson]
synonym: "Dislocated hips" EXACT layperson []
synonym: "Dislocation of hip" EXACT layperson []
synonym: "Hip dislocation" EXACT layperson []
xref: MSH:D006617
xref: SNOMEDCT_US:157265008
xref: UMLS:C0019554
is_a: HP:0001384 ! Abnormality of the hip joint
is_a: HP:0030311 ! Lower extremity joint dislocation

[Term]
id: HP:0002828
name: Multiple joint contractures
xref: SNOMEDCT_US:19393004
xref: SNOMEDCT_US:202264009
xref: UMLS:C0158118
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0002829
name: Arthralgia
def: "Joint pain." [HPO:probinson]
synonym: "Arthralgias" EXACT []
synonym: "Arthritic pain" RELATED []
synonym: "Joint pain" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Joint pains" RELATED layperson [HPO:skoehler]
xref: MSH:D018771
xref: SNOMEDCT_US:57676002
xref: UMLS:C0003862
is_a: HP:0012531 ! Pain

[Term]
id: HP:0002831
name: Long coccyx
synonym: "Long tailbone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C3277116
is_a: HP:0008519 ! Abnormality of the coccyx

[Term]
id: HP:0002832
name: Calcific stippling
alt_id: HP:0005738
def: "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs)." [HPO:curators]
synonym: "Discrete calcific stippling" EXACT []
xref: UMLS:C1849993
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0002833
name: Cystic angiomatosis of bone
def: "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping." [HPO:probinson, pmid:11930062]
comment: The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs.
synonym: "Lytic cystic lesions in appendicular bones" EXACT []
xref: UMLS:C4021749
is_a: HP:0012062 ! Bone cyst

[Term]
id: HP:0002834
name: Flared femoral metaphysis
synonym: "Flared metaphysis of thigh bone" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025674
is_a: HP:0006489 ! Abnormality of the femoral metaphysis
is_a: HP:0030307 ! Flared lower limb metaphysis

[Term]
id: HP:0002835
name: Aspiration
def: "Inspiration of a foreign object into the airway." [HPO:probinson]
synonym: "Pulmonary aspiration" RELATED [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:413585005
xref: SNOMEDCT_US:68052005
xref: UMLS:C0700198
xref: UMLS:C2712334
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0002836
name: Bladder exstrophy
def: "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall." [HPO:probinson, pmid:23650202]
comment: Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately.
synonym: "Ectopia vesicae" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D001746
xref: SNOMEDCT_US:61758007
xref: UMLS:C0005689
is_a: HP:0025487 ! Abnormality of bladder morphology
is_a: HP:0100548 ! Exstrophy

[Term]
id: HP:0002837
name: Recurrent bronchitis
alt_id: HP:0002785
def: "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [HPO:probinson, ISBN:0199747725, PMID:28261574]
synonym: "Bronchitis, recurrent" EXACT [HPO:skoehler]
xref: UMLS:C0741796
is_a: HP:0002788 ! Recurrent upper respiratory tract infections
is_a: HP:0012387 ! Bronchitis
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0002839
name: Urinary bladder sphincter dysfunction
alt_id: HP:0000018
def: "Abnormal function of a sphincter of the urinary bladder." [HPO:probinson]
synonym: "Sphincter disturbance" EXACT []
synonym: "Sphincter disturbances" EXACT []
xref: UMLS:C1843663
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0002840
name: Lymphadenitis
def: "Inflammation of a lymph node." [HPO:probinson]
synonym: "Inflammation of the lymph nodes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D008199
xref: SNOMEDCT_US:19471005
xref: UMLS:C0024205
is_a: HP:0002733 ! Abnormality of the lymph nodes
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0002841
name: Recurrent fungal infections
alt_id: HP:0005350
alt_id: HP:0005380
alt_id: HP:0005388
def: "Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection." [HPO:probinson]
synonym: "Recurrent fungal infections" EXACT layperson []
xref: UMLS:C1844384
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0020100 ! Unusual fungal infection

[Term]
id: HP:0002842
name: Recurrent Burkholderia cepacia infections
def: "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent." [HPO:probinson]
xref: UMLS:C4025673
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0002843
name: Abnormal T cell morphology
alt_id: HP:0002734
alt_id: HP:0030332
def: "An abnormality of T cells." [HPO:curators]
comment: T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity.
synonym: "Abnormal T cells" EXACT [HPO:skoehler]
synonym: "Abnormality of T cells" EXACT []
synonym: "Cellular immune defect" EXACT []
synonym: "Defective cellular immunity" EXACT []
xref: UMLS:C1855752
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0002845
name: obsolete Increased proportion of peripheral CD3+ T cells
is_obsolete: true
replaced_by: HP:0002851

[Term]
id: HP:0002846
name: Abnormal B cell morphology
def: "A structural abnormality of B cells." [HPO:probinson, PMID:18725575]
comment: B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells.
synonym: "Abnormal B cells" EXACT [HPO:skoehler]
synonym: "Abnormality of B cells" EXACT []
xref: UMLS:C4021748
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0002847
name: Impaired memory B cell generation
def: "Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge." [HPO:probinson]
xref: UMLS:C4025672
is_a: HP:0005372 ! Abnormality of B cell physiology

[Term]
id: HP:0002848
name: Specific anti-polysaccharide antibody deficiency
def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides." [HPO:probinson]
comment: Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus.
synonym: "Depressed antibody response to polysaccharide antigens" EXACT []
xref: UMLS:C4021747
is_a: HP:0012475 ! Decreased circulating level of specific antibody

[Term]
id: HP:0002849
name: Absence of lymph node germinal center
def: "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses." [HPO:probinson]
synonym: "Lymph nodes lack germinal center" EXACT []
synonym: "Lymphoid germinal center defect" EXACT []
xref: UMLS:C1847383
is_a: HP:0002733 ! Abnormality of the lymph nodes

[Term]
id: HP:0002850
name: Decreased circulating total IgM
alt_id: HP:0003147
alt_id: HP:0005385
def: "An abnormally decreased level of immunoglobulin M (IgM) in blood." [HPO:probinson]
synonym: "Decreased IgM" EXACT []
synonym: "Decreased IgM level" EXACT []
synonym: "IgM deficiency" EXACT []
synonym: "Reduced IgM levels" EXACT []
xref: UMLS:C0239989
is_a: HP:0004313 ! Decreased antibody level in blood
is_a: HP:0410243 ! Abnormal IgM level

[Term]
id: HP:0002851
name: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
alt_id: HP:0002845
def: "An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells." []
synonym: "Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors" EXACT []
xref: UMLS:C1858973
is_a: HP:0031399 ! Abnormal proportion of double-negative alpha-beta regulatory T cell

[Term]
id: HP:0002853
name: Increased proportion of HLA DR+ T cells
def: "An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation." [PMID:11531958]
xref: UMLS:C1858974
is_a: HP:0025540 ! Abnormal T cell subset distribution

[Term]
id: HP:0002857
name: Genu valgum
alt_id: HP:0004999
def: "The legs angle inward, such that the knees are close together and the ankles far apart." [HPO:probinson]
subset: hposlim_core
synonym: "Genu valga" EXACT []
synonym: "Genu valgus" EXACT []
synonym: "Genua valga" EXACT []
synonym: "Knee joint valgus deformity" EXACT []
synonym: "Knock knees" EXACT layperson []
xref: MEDDRA:10023480 "Knock-knee"
xref: MSH:D056304
xref: SNOMEDCT_US:299330008
xref: UMLS:C0576093
is_a: HP:0002815 ! Abnormality of the knee
is_a: HP:0002979 ! Bowing of the legs

[Term]
id: HP:0002858
name: Meningioma
alt_id: HP:0006754
def: "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater." [HPO:probinson]
synonym: "Noncancerous growth of membranes covering brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D008579
xref: NCIT:C3230
xref: UMLS:C0025286
is_a: HP:0100835 ! Benign neoplasm of the central nervous system

[Term]
id: HP:0002859
name: Rhabdomyosarcoma
xref: MSH:D012208
xref: NCIT:C3359
xref: SNOMEDCT_US:302847003
xref: SNOMEDCT_US:30924005
xref: UMLS:C0035412
is_a: HP:0009728 ! Neoplasm of striated muscle
is_a: HP:0030448 ! Soft tissue sarcoma

[Term]
id: HP:0002860
name: Squamous cell carcinoma
def: "The presence of squamous cell carcinoma of the skin." [HPO:probinson]
synonym: "Squamous cell cancer" BROAD [ORCID:0000-0001-6908-9849]
xref: MSH:D002294
xref: MSH:D018307
xref: NCIT:C2929
xref: SNOMEDCT_US:28899001
xref: SNOMEDCT_US:402815007
xref: UMLS:C0007137
xref: UMLS:C0751688
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0002861
name: Melanoma
alt_id: HP:0002887
alt_id: HP:0006777
alt_id: HP:0007474
def: "The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)." [HPO:probinson]
comment: A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis.
synonym: "Cancer of skin pigment cells" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Malignant melanoma" EXACT []
synonym: "Skin cancer (melanoma)" BROAD layperson []
xref: MSH:D008545
xref: NCIT:C3224
xref: SNOMEDCT_US:2092003
xref: SNOMEDCT_US:372244006
xref: UMLS:C0025202
is_a: HP:0011792 ! Neoplasm by histology

[Term]
id: HP:0002862
name: Bladder carcinoma
def: "The presence of a carcinoma of the urinary bladder." [HPO:probinson]
xref: NCIT:C2916
xref: SNOMEDCT_US:255108000
xref: UMLS:C0699885
is_a: HP:0009725 ! Bladder neoplasm

[Term]
id: HP:0002863
name: Myelodysplasia
alt_id: HP:0004832
alt_id: HP:0006730
def: "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia." [HPO:probinson]
synonym: "Hypoplastic myelodysplasia" RELATED []
synonym: "Myelodysplastic syndrome" EXACT []
xref: MSH:D009190
xref: SNOMEDCT_US:109995007
xref: SNOMEDCT_US:128623006
xref: SNOMEDCT_US:188736006
xref: UMLS:C1851971
xref: UMLS:C3463824
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0002864
name: Paraganglioma of head and neck
synonym: "Paragangliomas, head and neck" EXACT []
xref: UMLS:C1333944
is_a: HP:0002668 ! Paraganglioma

[Term]
id: HP:0002865
name: Medullary thyroid carcinoma
def: "The presence of a medullary carcinoma of the thyroid gland." [HPO:probinson]
synonym: "Medullary thyroid cancer" BROAD [ORCID:0000-0001-6908-9849]
xref: MSH:C536914
xref: NCIT:C3879
xref: SNOMEDCT_US:128916007
xref: SNOMEDCT_US:255032005
xref: UMLS:C0238462
is_a: HP:0002890 ! Thyroid carcinoma

[Term]
id: HP:0002866
name: Hypoplastic iliac wing
alt_id: HP:0003169
alt_id: HP:0003181
alt_id: HP:0008837
def: "Underdevelopment of the ilium ala." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic iliac alae" EXACT []
synonym: "Hypoplastic iliac wings" EXACT []
synonym: "Small iliac wings" EXACT []
xref: UMLS:C1865027
is_a: HP:0000946 ! Hypoplastic ilia
is_a: HP:0011867 ! Abnormality of the wing of the ilium

[Term]
id: HP:0002867
name: Abnormality of the ilium
def: "An abnormality of the ilium, the largest and uppermost bone of the pelvis." [HPO:probinson]
subset: hposlim_core
synonym: "Iliac abnormalities" EXACT []
xref: UMLS:C4021746
is_a: HP:0003272 ! Abnormality of the hip bone

[Term]
id: HP:0002868
name: Narrow iliac wings
def: "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C1836688
is_a: HP:0011867 ! Abnormality of the wing of the ilium

[Term]
id: HP:0002869
name: Flared iliac wings
def: "Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing." [HPO:probinson]
subset: hposlim_core
synonym: "Flared iliac wing" EXACT []
xref: UMLS:C1865841
is_a: HP:0011867 ! Abnormality of the wing of the ilium

[Term]
id: HP:0002870
name: Obstructive sleep apnea
def: "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:probinson]
synonym: "Obstructive sleep apnoea" RELATED []
xref: MSH:D020181
xref: SNOMEDCT_US:78275009
xref: UMLS:C0520679
is_a: HP:0010535 ! Sleep apnea

[Term]
id: HP:0002871
name: Central apnea
def: "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [HPO:curators]
synonym: "Central apnoea" EXACT []
xref: MSH:D020182
xref: UMLS:C0520680
is_a: HP:0002104 ! Apnea

[Term]
id: HP:0002872
name: Apneic episodes precipitated by illness, fatigue, stress
def: "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress." [HPO:curators]
synonym: "Episodic apnea induced by febrile illness or stress" EXACT []
xref: UMLS:C3806462
is_a: HP:0002104 ! Apnea

[Term]
id: HP:0002875
name: Exertional dyspnea
xref: SNOMEDCT_US:60845006
xref: UMLS:C0231807
is_a: HP:0002094 ! Dyspnea

[Term]
id: HP:0002876
name: Episodic tachypnea
alt_id: HP:0002881
def: "Episodes of very rapid breathing." [HPO:probinson]
synonym: "Hyperpnea, episodic" EXACT []
xref: UMLS:C3806218
is_a: HP:0002789 ! Tachypnea

[Term]
id: HP:0002877
name: Nocturnal hypoventilation
synonym: "Nocturnal hypopnea" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Nocturnal slow breathing" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Nocturnal under breathing" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1843643
is_a: HP:0002791 ! Hypoventilation

[Term]
id: HP:0002878
name: Respiratory failure
alt_id: HP:0004877
def: "A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [HPO:probinson]
comment: Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg).
synonym: "Respiratory failure" EXACT layperson []
xref: MSH:D012131
xref: SNOMEDCT_US:409622000
xref: UMLS:C1145670
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0002879
name: Anisospondyly
def: "Abnormally increased variability of the size of the vertebral bodies." [HPO:probinson]
xref: UMLS:C1857101
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0002880
name: obsolete Respiratory difficulties
is_obsolete: true
replaced_by: HP:0002098

[Term]
id: HP:0002882
name: Sudden episodic apnea
def: "Recurrent bouts of sudden, severe apnea that may be life-threatening." [HPO:probinson]
xref: UMLS:C4025671
is_a: HP:0002104 ! Apnea

[Term]
id: HP:0002883
name: Hyperventilation
def: "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide." [HPO:probinson]
synonym: "Rapid breathing" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D006985
xref: SNOMEDCT_US:68978004
xref: UMLS:C0020578
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0002884
name: Hepatoblastoma
def: "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts." [eMedicine:986802, HPO:probinson]
comment: Hepatoblastoma occurs nearly exclusively in infants and children.
xref: MSH:D018197
xref: NCIT:C3728
xref: SNOMEDCT_US:109843000
xref: SNOMEDCT_US:45024009
xref: UMLS:C0206624
is_a: HP:0002896 ! Neoplasm of the liver
is_a: HP:0002898 ! Embryonal neoplasm

[Term]
id: HP:0002885
name: Medulloblastoma
def: "A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults." [HPO:probinson]
comment: Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors.
xref: MSH:D008527
xref: NCIT:C3222
xref: SNOMEDCT_US:443333004
xref: SNOMEDCT_US:83217000
xref: UMLS:C0025149
is_a: HP:0100836 ! Malignant neoplasm of the central nervous system

[Term]
id: HP:0002886
name: Vagal paraganglioma
def: "A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve." [HPO:probinson, PMID:17268589]
synonym: "Glomus vagale paraganglioma" RELATED []
synonym: "Glomus vagale tumor" EXACT []
synonym: "Vagal nerve tumors" EXACT []
xref: SNOMEDCT_US:253030004
xref: UMLS:C0474819
is_a: HP:0002864 ! Paraganglioma of head and neck

[Term]
id: HP:0002888
name: Ependymoma
def: "The presence of an ependymoma of the central nervous system." [HPO:probinson]
comment: According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign.
xref: MSH:D004806
xref: NCIT:C3017
xref: SNOMEDCT_US:443643007
xref: SNOMEDCT_US:57706008
xref: UMLS:C0014474
is_a: HP:0009733 ! Glioma

[Term]
id: HP:0002890
name: Thyroid carcinoma
def: "The presence of a carcinoma of the thyroid gland." [HPO:probinson]
xref: MSH:D013964
xref: NCIT:C2916
xref: UMLS:C0549473
is_a: HP:0100031 ! Neoplasm of the thyroid gland

[Term]
id: HP:0002891
name: Uterine leiomyosarcoma
def: "The presence of a leiomyosarcoma of the uterus." [HPO:probinson]
comment: Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH].
xref: NCIT:C3158
xref: SNOMEDCT_US:447389009
xref: UMLS:C0280631
is_a: HP:0010784 ! Uterine neoplasm
is_a: HP:0100243 ! Leiomyosarcoma

[Term]
id: HP:0002893
name: Pituitary adenoma
def: "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis." [DDD:spark]
comment: In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism.
synonym: "Noncancerous tumor in pituitary gland" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: ICD-O:M8272/0 "Pituitary adenoma"
xref: MSH:D010911
xref: NCIT:C2855
xref: SNOMEDCT_US:128664001
xref: SNOMEDCT_US:254956000
xref: UMLS:C0032000
is_a: HP:0011750 ! Neoplasm of the anterior pituitary

[Term]
id: HP:0002894
name: Neoplasm of the pancreas
alt_id: HP:0004511
def: "A tumor (abnormal growth of tissue) of the pancreas." [HPO:probinson]
synonym: "Cancer of the pancreas" EXACT layperson []
synonym: "increased risk of pancreatic cancer" RELATED layperson []
synonym: "Neoplasia of the pancreas" EXACT []
synonym: "Pancreatic cancer" BROAD layperson []
synonym: "Pancreatic tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010190
xref: NCIT:C3262
xref: SNOMEDCT_US:126859007
xref: SNOMEDCT_US:363418001
xref: UMLS:C0030297
xref: UMLS:C0346647
xref: UMLS:C1842408
is_a: HP:0001732 ! Abnormality of the pancreas
is_a: HP:0011793 ! Neoplasm by anatomical site

[Term]
id: HP:0002895
name: Papillary thyroid carcinoma
def: "The presence of a papillary adenocarcinoma of the thyroid gland." [HPO:probinson]
synonym: "Papillary carcinoma of thyroid" EXACT []
synonym: "Thyroid papillary carcinoma" EXACT []
xref: MSH:C536915
xref: NCIT:C2853
xref: SNOMEDCT_US:255029007
xref: UMLS:C0238463
is_a: HP:0002890 ! Thyroid carcinoma

[Term]
id: HP:0002896
name: Neoplasm of the liver
def: "A tumor (abnormal growth of tissue) of the liver." [HPO:probinson]
synonym: "Liver cancer" EXACT layperson []
synonym: "Liver tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D008113
xref: NCIT:C3262
xref: SNOMEDCT_US:126851005
xref: SNOMEDCT_US:93870000
xref: UMLS:C0023903
xref: UMLS:C0345904
is_a: HP:0001392 ! Abnormality of the liver
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0002897
name: Parathyroid adenoma
alt_id: HP:0008257
def: "A benign tumor of the parathyroid gland that can cause hyperparathyroidism." [HPO:probinson]
synonym: "Parathyroid adenomas" EXACT []
xref: ICD-10:D35.1 "Benign neoplasm: Parathyroid gland"
xref: MSH:D010282
xref: NCIT:C2855
xref: SNOMEDCT_US:128474007
xref: UMLS:C0262587
is_a: HP:0100733 ! Neoplasm of the parathyroid gland

[Term]
id: HP:0002898
name: Embryonal neoplasm
synonym: "Embryonal neoplasia" EXACT []
synonym: "Embryonal tumors" EXACT []
xref: MSH:D009373
xref: UMLS:C0027654
is_a: HP:0011792 ! Neoplasm by histology

[Term]
id: HP:0002900
name: Hypokalemia
def: "An abnormally decreased potassium concentration in the blood." [HPO:probinson]
synonym: "Low blood potassium levels" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D007008
xref: SNOMEDCT_US:166690008
xref: SNOMEDCT_US:43339004
xref: UMLS:C0020621
is_a: HP:0011042 ! Abnormal blood potassium concentration

[Term]
id: HP:0002901
name: Hypocalcemia
def: "An abnormally decreased calcium concentration in the blood." [HPO:curators]
synonym: "Hypocalcaemia" EXACT []
synonym: "Low blood calcium levels" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D006996
xref: SNOMEDCT_US:5291005
xref: UMLS:C0020598
is_a: HP:0004363 ! Abnormal circulating calcium concentration

[Term]
id: HP:0002902
name: Hyponatremia
def: "An abnormally decreased sodium concentration in the blood." [HPO:probinson]
synonym: "Low blood sodium levels" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D007010
xref: SNOMEDCT_US:89627008
xref: UMLS:C0020625
is_a: HP:0010931 ! Abnormal blood sodium concentration

[Term]
id: HP:0002904
name: Hyperbilirubinemia
def: "An increased amount of bilirubin in the blood." [HPO:probinson]
synonym: "High blood bilirubin levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:26165005
xref: UMLS:C0311468
is_a: HP:0032180 ! Abnormal circulating metabolite concentration

[Term]
id: HP:0002905
name: Hyperphosphatemia
def: "An abnormally increased phosphate concentration in the blood." [HPO:gcarletti]
synonym: "High blood phosphate levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D054559
xref: SNOMEDCT_US:20165001
xref: UMLS:C0085681
xref: UMLS:C0553706
is_a: HP:0100529 ! Abnormal blood phosphate concentration

[Term]
id: HP:0002907
name: Microscopic hematuria
def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [HPO:sdoelken]
synonym: "Microhematuria" EXACT []
synonym: "Occult hematuria" EXACT []
synonym: "Small amount of blood in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:197940006
xref: UMLS:C0239937
is_a: HP:0000790 ! Hematuria

[Term]
id: HP:0002908
name: Conjugated hyperbilirubinemia
alt_id: HP:0008351
synonym: "Direct hyperbilirubinemia" EXACT []
xref: SNOMEDCT_US:9326001
xref: UMLS:C0268307
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0002909
name: Generalized aminoaciduria
alt_id: HP:0008284
alt_id: HP:0008317
def: "An increased concentration of all types of amino acid in the urine." [HPO:probinson]
comment: This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased.
synonym: "Generalized nonspecific aminoaciduria" EXACT []
xref: UMLS:C1847868
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0002910
name: Elevated hepatic transaminase
alt_id: HP:0001411
alt_id: HP:0003143
alt_id: HP:0003156
alt_id: HP:0003293
alt_id: HP:0006567
alt_id: HP:0006578
alt_id: HP:0008267
alt_id: HP:0008342
def: "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:probinson]
synonym: "Abnormal liver enzymes" EXACT []
synonym: "Abnormal liver function" EXACT []
synonym: "Abnormal liver function tests" EXACT []
synonym: "Elevated liver enzymes" EXACT []
synonym: "Elevated liver function tests" RELATED []
synonym: "Elevated serum transaminases" EXACT []
synonym: "Elevated transaminases" EXACT []
synonym: "High liver enzymes" EXACT layperson []
synonym: "Increased liver enzymes" EXACT []
synonym: "Increased liver function tests" EXACT []
synonym: "Increased transaminases" EXACT []
synonym: "Subclinical abnormal liver function tests" EXACT []
xref: MSH:D008107
xref: SNOMEDCT_US:166603001
xref: SNOMEDCT_US:166643006
xref: SNOMEDCT_US:75183008
xref: UMLS:C0086565
xref: UMLS:C0151766
xref: UMLS:C0235996
xref: UMLS:C0438237
xref: UMLS:C0438717
xref: UMLS:C0877359
xref: UMLS:C1842003
xref: UMLS:C1848701
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0002912
name: Methylmalonic acidemia
alt_id: HP:0003123
alt_id: HP:0008295
def: "Increased concentration of methylmalonic acid in the blood." [HPO:probinson]
comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
xref: MSH:C537358
xref: SNOMEDCT_US:42393006
xref: UMLS:C0268583
is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism
is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration
is_a: HP:0032368 ! Acidemia

[Term]
id: HP:0002913
name: Myoglobinuria
def: "Presence of myoglobin in the urine." [HPO:probinson]
comment: Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction.
xref: MSH:D009212
xref: SNOMEDCT_US:48165008
xref: UMLS:C0027080
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0002914
name: Hyperchloriduria
def: "An increased concentration of chloride in the urine." [HPO:probinson]
synonym: "Increased urinary chloride" EXACT layperson []
xref: UMLS:C1846352
is_a: HP:0012600 ! Abnormal urine chloride concentration

[Term]
id: HP:0002916
name: Abnormality of chromosome segregation
def: "An abnormality of chromosome segregation." [HPO:probinson]
xref: UMLS:C4025670
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0002917
name: Hypomagnesemia
alt_id: HP:0003284
def: "An abnormally decreased magnesium concentration in the blood." [HPO:probinson]
synonym: "Low blood magnesium levels" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Low blood Mg levels" EXACT HP:0045077 []
xref: SNOMEDCT_US:190855004
xref: UMLS:C0151723
is_a: HP:0004921 ! Abnormal magnesium concentration

[Term]
id: HP:0002918
name: Hypermagnesemia
def: "An abnormally increased magnesium concentration in the blood." [HPO:probinson]
synonym: "High blood magnesium levels" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "High blood Mg levels" EXACT HP:0045077 []
xref: SNOMEDCT_US:66978005
xref: UMLS:C0151714
is_a: HP:0004921 ! Abnormal magnesium concentration

[Term]
id: HP:0002919
name: Ketonuria
def: "High levels of ketone bodies in the urine." [HPO:probinson]
comment: Acetone is the main component of the ketone bodies.
synonym: "Acetonuria" RELATED []
synonym: "Ketoaciduria" RELATED [HPO:skoehler]
synonym: "Ketonaciduria" EXACT []
synonym: "Ketone bodies in urine" EXACT [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D007662
xref: SNOMEDCT_US:274783007
xref: SNOMEDCT_US:36815008
xref: UMLS:C0162275
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0002920
name: Decreased circulating ACTH level
def: "An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson]
xref: UMLS:C4025669
is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level

[Term]
id: HP:0002921
name: Abnormality of the cerebrospinal fluid
def: "An abnormality of the cerebrospinal fluid (CSF)." [HPO:probinson]
comment: The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain).
synonym: "Abnormal CSF findings" EXACT HP:0045077 []
synonym: "Abnormality of the CSF" EXACT HP:0045077 []
xref: UMLS:C0151583
is_a: HP:0002011 ! Morphological abnormality of the central nervous system

[Term]
id: HP:0002922
name: Increased CSF protein
def: "Increased concentration of protein in the cerebrospinal fluid." [KI:phemming, PMID:29114301]
synonym: "Cerebrospinal fluid protein increased" EXACT []
synonym: "Cerebrospinal fluid with increased protein" EXACT []
synonym: "Elevated cerebrospinal fluid protein" EXACT []
synonym: "Elevated csf protein" EXACT []
synonym: "Hyperproteinorrhachia" EXACT []
synonym: "Increased protein in csf" EXACT []
synonym: "Spinal fluid protein elevated" EXACT []
xref: UMLS:C1806780
is_a: HP:0025456 ! Abnormal CSF protein level

[Term]
id: HP:0002923
name: Rheumatoid factor positive
def: "The presence in the serum of an autoantibody directed against the Fc portion of IgG." [HPO:probinson]
xref: SNOMEDCT_US:165839004
xref: UMLS:C0151379
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0002924
name: obsolete Decreased circulating aldosterone level
is_obsolete: true
replaced_by: HP:0004319

[Term]
id: HP:0002925
name: Increased thyroid-stimulating hormone level
def: "Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland." [DDD:spark]
synonym: "Elevated thyroid stimulating hormone" EXACT []
synonym: "Elevated thyroid stimulating hormone levels" EXACT []
synonym: "High TSH" EXACT HP:0045077 []
synonym: "Increased serum thyroid-stimulating hormone" EXACT []
synonym: "Increased thyroid-stimulating hormone" EXACT []
synonym: "Increased thyrotropin level" EXACT []
synonym: "Thyroid-stimulating hormone excess" EXACT []
synonym: "TSH excess" EXACT HP:0045077 []
xref: SNOMEDCT_US:309080005
xref: UMLS:C0586553
is_a: HP:0031097 ! Abnormal thyroid-stimulating hormone level

[Term]
id: HP:0002926
name: Abnormality of thyroid physiology
def: "An abnormal functionality of the thyroid gland." [HPO:probinson]
synonym: "Abnormal thyroid function" EXACT layperson [HPO:skoehler]
xref: UMLS:C0857576
is_a: HP:0000820 ! Abnormality of the thyroid gland

[Term]
id: HP:0002927
name: Histidinuria
alt_id: HP:0010905
def: "An increased concentration of histidine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447]
comment: Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours.
synonym: "High urine histidine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C538321
xref: SNOMEDCT_US:78311009
xref: UMLS:C0268642
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0002928
name: Decreased activity of the pyruvate dehydrogenase complex
synonym: "Decreased activity of the PDH complex" EXACT []
synonym: "Pyruvate dehydrogenase complex deficiency" EXACT []
xref: UMLS:C1839888
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0002929
name: Leydig cell insensitivity to gonadotropin
xref: UMLS:C4025668
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0002930
name: Thyroid hormone receptor defect
alt_id: HP:0008215
alt_id: HP:0008243
alt_id: HP:0008262
def: "Thyroid hormone resistance because of a defect in the thyroid hormone receptor." [DDD:spark]
synonym: "End-organ unresponsiveness to thyroid hormone" EXACT []
synonym: "Resistance to thyroid hormone" EXACT []
synonym: "Thyroid hormone resistance" EXACT []
xref: MSH:D018382
xref: SNOMEDCT_US:111567006
xref: SNOMEDCT_US:237559000
xref: SNOMEDCT_US:237560005
xref: SNOMEDCT_US:50375007
xref: UMLS:C2940786
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0002932
name: Aldehyde oxidase deficiency
def: "A reduction in aldehyde oxidase activity." [HPO:probinson]
comment: Aldehyde oxidase generates carboxylic acids from aldehydes.
xref: SNOMEDCT_US:124161002
xref: UMLS:C1291266
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0002933
name: Ventral hernia
def: "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall." [HPO:probinson, HPO:skoehler]
xref: MSH:D006555
xref: SNOMEDCT_US:414396006
xref: UMLS:C0019326
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0002936
name: Distal sensory impairment
alt_id: HP:0003476
alt_id: HP:0006843
alt_id: HP:0006845
alt_id: HP:0006922
alt_id: HP:0006971
alt_id: HP:0006993
alt_id: HP:0007138
alt_id: HP:0007292
alt_id: HP:0007296
def: "An abnormal reduction in sensation in the distal portions of the extremities." [HPO:probinson]
synonym: "Decreased distal sensation" EXACT []
synonym: "Decreased sensation in extremities" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Distal sensation loss" EXACT []
synonym: "Distal sensory impairment in lower limbs" EXACT []
synonym: "Distal sensory impairment of the lower extremities" EXACT []
synonym: "Distal sensory loss" EXACT []
synonym: "Distal sensory loss, upper and lower limbs" EXACT []
synonym: "Loss of distal sensation" EXACT []
xref: UMLS:C1847584
is_a: HP:0003474 ! Sensory impairment

[Term]
id: HP:0002937
name: Hemivertebrae
def: "Absence of one half of the vertebral body." [HPO:probinson]
comment: Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect.
subset: hposlim_core
synonym: "Hemi-vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Hemivertebra" EXACT []
synonym: "Missing part of vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:68359008
xref: UMLS:C0265677
is_a: HP:0003312 ! Abnormal form of the vertebral bodies
is_a: HP:0003422 ! Vertebral segmentation defect

[Term]
id: HP:0002938
name: Lumbar hyperlordosis
alt_id: HP:0002941
alt_id: HP:0004560
alt_id: HP:0004574
alt_id: HP:0004596
def: "An abnormal accentuation of the inward curvature of the spine in the lumbar region." [HPO:probinson]
synonym: "Exaggerated lumbar lordosis" EXACT []
synonym: "Excessive inward curvature of lower spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Increased lumbar lordosis" EXACT []
synonym: "Lumbar lordosis" EXACT []
synonym: "Prominent lumbar lordosis" EXACT []
xref: UMLS:C1184923
is_a: HP:0003307 ! Hyperlordosis

[Term]
id: HP:0002942
name: Thoracic kyphosis
def: "Over curvature of the thoracic region, leading to a round back or if sever to a hump." [HPO:probinson]
synonym: "Accentuated thoracic kyphosis" EXACT []
synonym: "Exaggerated thoracic kyphosis" EXACT []
xref: UMLS:C1184919
is_a: HP:0002808 ! Kyphosis
is_a: HP:0100711 ! Abnormality of the thoracic spine

[Term]
id: HP:0002943
name: Thoracic scoliosis
alt_id: HP:0004615
xref: UMLS:C1857790
is_a: HP:0002650 ! Scoliosis
is_a: HP:0100711 ! Abnormality of the thoracic spine

[Term]
id: HP:0002944
name: Thoracolumbar scoliosis
alt_id: HP:0004567
alt_id: HP:0004585
synonym: "Scoliosis, thoracolumbar" EXACT []
xref: UMLS:C0749379
is_a: HP:0002650 ! Scoliosis

[Term]
id: HP:0002945
name: Intervertebral space narrowing
def: "Decreased height of the intervertebral disk." [HPO:probinson]
comment: A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination.
synonym: "Narrow intervertebral disc spaces" EXACT []
synonym: "Narrow intervertebral spaces" EXACT []
xref: SNOMEDCT_US:11301007
xref: UMLS:C0263870
is_a: HP:0005108 ! Abnormality of the intervertebral disk

[Term]
id: HP:0002946
name: Supernumerary vertebrae
xref: SNOMEDCT_US:87294007
xref: UMLS:C0265681
is_a: HP:0009144 ! Supernumerary bones of the axial skeleton
is_a: HP:0030304 ! Abnormal number of vertebrae

[Term]
id: HP:0002947
name: Cervical kyphosis
def: "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance." [HPO:probinson]
synonym: "Rounded neck" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:298393001
xref: UMLS:C0575170
is_a: HP:0002808 ! Kyphosis
is_a: HP:0005905 ! Abnormal cervical curvature

[Term]
id: HP:0002948
name: Vertebral fusion
alt_id: HP:0002807
alt_id: HP:0008471
alt_id: HP:0008485
def: "A developmental defect leading to the union of two adjacent vertebrae." [HPO:probinson]
subset: hposlim_core
synonym: "Fused vertebrae" EXACT []
synonym: "Fusion of vertebral bodies" EXACT []
synonym: "Spinal fusion" EXACT layperson []
synonym: "Vertebral body fusion" EXACT []
xref: UMLS:C1835763
xref: UMLS:C1849073
xref: UMLS:C3278509
is_a: HP:0003422 ! Vertebral segmentation defect
is_a: HP:0100240 ! Synostosis of joints

[Term]
id: HP:0002949
name: Fused cervical vertebrae
def: "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another." []
synonym: "Cervical spine fusion" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Cervical vertebral fusion" EXACT []
synonym: "Fused neck" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Fusion of cervical vertebrae" EXACT []
xref: UMLS:C3887527
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0002951
name: Partial absence of cerebellar vermis
def: "Congenital absence of a part of the vermis of cerebellum." [HPO:probinson]
xref: UMLS:C4025667
is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis

[Term]
id: HP:0002953
name: Vertebral compression fractures
synonym: "Compression fracture" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Fractures of vertebral bodies" EXACT []
synonym: "Vertebral body compression" EXACT []
synonym: "Vertebral collapse" EXACT []
synonym: "Vertebral compression" EXACT []
synonym: "Vertebral compression or collapse" EXACT []
xref: SNOMEDCT_US:42942008
xref: SNOMEDCT_US:84138006
xref: UMLS:C0262431
xref: UMLS:C0410550
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0002955
name: Granulomatosis
def: "A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity." [HPO:probinson, PMID:10908370, PMID:937513]
comment: This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
xref: SNOMEDCT_US:443138004
xref: SNOMEDCT_US:44328006
xref: UMLS:C0521173
is_a: HP:0004311 ! Abnormal macrophage morphology

[Term]
id: HP:0002958
name: Immune dysregulation
def: "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications." [PMID:26233425]
synonym: "Immune dysregulation" EXACT layperson []
synonym: "Unregulated immune response" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1844666
is_a: HP:0010978 ! Abnormality of immune system physiology

[Term]
id: HP:0002959
name: Impaired Ig class switch recombination
def: "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE." [HPO:probinson, pmid:11544001]
comment: The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE.
synonym: "Impaired B-lymphocyte isotype switching" EXACT []
xref: UMLS:C1842528
is_a: HP:0005372 ! Abnormality of B cell physiology

[Term]
id: HP:0002960
name: Autoimmunity
def: "The occurrence of an immune reaction against the organism's own cells or tissues." [HPO:probinson]
synonym: "Autoimmune condition" EXACT []
synonym: "Autoimmune disease" EXACT layperson []
synonym: "Autoimmune disorder" EXACT layperson []
synonym: "Autoimmunity" EXACT layperson []
xref: MSH:D001327
xref: SNOMEDCT_US:85828009
xref: UMLS:C0004364
is_a: HP:0010978 ! Abnormality of immune system physiology

[Term]
id: HP:0002961
name: Dysgammaglobulinemia
def: "Selective deficiency of one or more, but not all, classes of immunoglobulins." [HPO:probinson]
xref: MSH:D004406
xref: SNOMEDCT_US:123782009
xref: UMLS:C0013374
is_a: HP:0004313 ! Decreased antibody level in blood

[Term]
id: HP:0002963
name: Abnormal delayed hypersensitivity skin test
def: "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter." [HPO:probinson]
comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance.
xref: UMLS:C1833172
is_a: HP:0011840 ! Abnormality of T cell physiology

[Term]
id: HP:0002965
name: Cutaneous anergy
alt_id: HP:0005427
def: "Inability to react to a delayed hypersensitivity skin test." [HPO:probinson]
comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected.
synonym: "Absence of delayed hypersensitivity skin test" EXACT []
synonym: "Lack of delayed skin hypersensitivity reaction" EXACT []
xref: UMLS:C1855781
is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test

[Term]
id: HP:0002967
name: Cubitus valgus
def: "Abnormal positioning in which the elbows are turned out." [HPO:probinson]
subset: hposlim_core
synonym: "Outward turned elbows" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:54583007
xref: UMLS:C0158465
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0002970
name: Genu varum
alt_id: HP:0003052
def: "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [HPO:probinson]
subset: hposlim_core
synonym: "Genu vara" EXACT []
synonym: "Genua vara" EXACT []
synonym: "Outward bow-leggedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Outward bowing at knees" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D056305
xref: SNOMEDCT_US:299331007
xref: UMLS:C0544755
is_a: HP:0002815 ! Abnormality of the knee
is_a: HP:0002979 ! Bowing of the legs

[Term]
id: HP:0002971
name: Absent microvilli on the surface of peripheral blood lymphocytes
def: "Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes." [PMID:15130947]
xref: UMLS:C1833173
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0002972
name: Reduced delayed hypersensitivity
alt_id: HP:0005434
def: "Decreased ability to react to a delayed hypersensitivity skin test." [HPO:probinson]
synonym: "Decreased reactivity to skin test antigens" EXACT []
synonym: "Deficiency of delayed skin hypersensitivity" EXACT []
synonym: "Impaired delayed hypersensitivity" EXACT []
xref: UMLS:C1843386
is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test

[Term]
id: HP:0002973
name: Abnormality of the forearm
def: "An abnormality of the lower arm." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the forearm" EXACT layperson []
xref: UMLS:C4025666
is_a: HP:0002817 ! Abnormality of the upper limb

[Term]
id: HP:0002974
name: Radioulnar synostosis
alt_id: HP:0003962
def: "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:probinson]
subset: hposlim_core
synonym: "Fused forearm bones" EXACT layperson []
xref: MEDDRA:10037798 "Radioulnar synostosis"
xref: MSH:C562408
xref: SNOMEDCT_US:33313004
xref: UMLS:C0158761
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0100238 ! Synostosis involving bones of the upper limbs

[Term]
id: HP:0002977
name: Aplasia/Hypoplasia involving the central nervous system
alt_id: HP:0001323
def: "Absence or underdevelopment of tissue in the central nervous system." [HPO:probinson]
synonym: "Absent/underdeveloped central nervous system tissue" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia/Hypoplasia involving the CNS" EXACT HP:0045077 []
xref: UMLS:C4025665
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
created_by: peter
creation_date: 2008-03-31T05:13:00Z

[Term]
id: HP:0002979
name: Bowing of the legs
alt_id: HP:0006428
def: "A bending or abnormal curvature affecting a long bone of the leg." [HPO:probinson]
synonym: "Bow legs" EXACT []
synonym: "Bow-leggedness" EXACT []
synonym: "Bowed legs" EXACT layperson []
synonym: "Bowed lower limbs" EXACT layperson []
xref: MSH:D056305
xref: SNOMEDCT_US:299331007
xref: UMLS:C0544755
is_a: HP:0002981 ! Abnormality of the calf
is_a: HP:0006487 ! Bowing of the long bones

[Term]
id: HP:0002980
name: Femoral bowing
alt_id: HP:0004998
def: "Bowing (abnormal curvature) of the femur." [HPO:probinson]
subset: hposlim_core
synonym: "Bowed femur" EXACT []
synonym: "Bowed femura" EXACT [HPO:skoehler]
synonym: "Bowed femurs" EXACT [HPO:skoehler]
synonym: "Bowed thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859461
is_a: HP:0002823 ! Abnormality of femur morphology
is_a: HP:0002979 ! Bowing of the legs

[Term]
id: HP:0002981
name: Abnormality of the calf
def: "An abnormality of the calf, i.e. of the posterior part of the lower leg." [HPO:probinson]
synonym: "Abnormality of the calf" EXACT layperson []
xref: UMLS:C4021832
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0002982
name: Tibial bowing
alt_id: HP:0006363
def: "A bending or abnormal curvature of the tibia." [HPO:probinson]
comment: A developmental defect with posteromedial tibial angulation.
subset: hposlim_core
synonym: "Bowed shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bowed shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bowed tibia" EXACT []
synonym: "Bowing of the tibia" EXACT []
xref: UMLS:C1837081
is_a: HP:0002979 ! Bowing of the legs
is_a: HP:0002992 ! Abnormality of tibia morphology

[Term]
id: HP:0002983
name: Micromelia
alt_id: HP:0003030
alt_id: HP:0005753
def: "The presence of abnormally small extremities." [HPO:probinson]
subset: hposlim_core
synonym: "Smaller or shorter than typical limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10027546 "Micromelia"
xref: SNOMEDCT_US:74370006
xref: UMLS:C0025995
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0002984
name: Hypoplasia of the radius
alt_id: HP:0002995
alt_id: HP:0004989
alt_id: HP:0005014
alt_id: HP:0005081
alt_id: HP:0005714
alt_id: HP:0006418
def: "Underdevelopment of the radius." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic radii" EXACT []
synonym: "Hypoplastic radius" EXACT []
synonym: "Radial hypoplasia" EXACT []
synonym: "Radial ray hypoplasia" RELATED []
synonym: "Short radii" EXACT []
synonym: "Short radius" EXACT []
synonym: "Shortening of radius" EXACT []
synonym: "Underdeveloped outer large forearm bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:205170001
xref: SNOMEDCT_US:93288001
xref: UMLS:C0685381
xref: UMLS:C1840087
is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius
is_a: HP:0009821 ! Forearm undergrowth
is_a: HP:0045009 ! Abnormal morphology of the radius

[Term]
id: HP:0002986
name: Radial bowing
alt_id: HP:0004996
def: "A bending or abnormal curvature of the radius." [HPO:probinson]
subset: hposlim_core
synonym: "Bowed radii" EXACT []
synonym: "Bowed radius" EXACT []
synonym: "Bowing of outer large bone of the forearm" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Bowing of radius bone of the forearm" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1859399
is_a: HP:0003956 ! Bowed forearm bones
is_a: HP:0045008 ! Abnormal shape of the radius

[Term]
id: HP:0002987
name: Elbow flexion contracture
alt_id: HP:0003937
alt_id: HP:0004984
alt_id: HP:0005654
def: "A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow." [HPO:probinson]
synonym: "Contracture of elbow joint" EXACT []
synonym: "Contractures of elbows" EXACT layperson []
synonym: "Contractures of the elbows" EXACT []
synonym: "Elbow contracture" EXACT layperson []
synonym: "Elbow contractures" EXACT layperson []
synonym: "Elbow flexion contractures" EXACT []
synonym: "Elbow flexion deformity" EXACT []
synonym: "Fixed flexion at the elbow joint" EXACT []
xref: SNOMEDCT_US:202271004
xref: UMLS:C0409338
is_a: HP:0002996 ! Limited elbow movement
is_a: HP:0100360 ! Contractures of the joints of the upper limbs

[Term]
id: HP:0002990
name: Fibular aplasia
alt_id: HP:0006373
def: "Absence of the fibula." [HPO:probinson]
subset: hposlim_core
synonym: "Absent calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent fibulae" EXACT []
synonym: "Absent-hypoplastic fibulae" EXACT []
xref: MEDDRA:10054882 "Fibula agenesis"
xref: UMLS:C1836186
is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula

[Term]
id: HP:0002991
name: Abnormality of fibula morphology
def: "An anomaly of the calf bone (fibula), one of the two bones of the calf." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025664
is_a: HP:0002981 ! Abnormality of the calf
is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs

[Term]
id: HP:0002992
name: Abnormality of tibia morphology
def: "Abnormality of the tibia (shinbone)." [HPO:curators]
synonym: "Abnormality of the shankbone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Abnormality of the shinbone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025663
is_a: HP:0002981 ! Abnormality of the calf
is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs

[Term]
id: HP:0002996
name: Limited elbow movement
alt_id: HP:0006395
synonym: "Decreased elbow mobility" EXACT layperson []
synonym: "Limited elbow mobility" EXACT layperson []
synonym: "Limited elbow movement" EXACT layperson []
synonym: "Restricted elbow motion" EXACT layperson []
xref: UMLS:C1849955
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0002997
name: Abnormality of the ulna
def: "An abnormality of the ulna bone of the forearm." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4025662
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0002999
name: Patellar dislocation
def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:probinson]
synonym: "Dislocated kneecap" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Dislocated patellae" EXACT []
synonym: "Dislocation of patella" EXACT []
xref: MSH:D031222
xref: SNOMEDCT_US:263029007
xref: UMLS:C1135812
is_a: HP:0003045 ! Abnormality of the patella
is_a: HP:0030311 ! Lower extremity joint dislocation

[Term]
id: HP:0003001
name: Glomus jugular tumor
synonym: "Glomus jugulare tumor" EXACT []
synonym: "Glomus jugulare tumors" EXACT []
xref: MSH:D005925
xref: SNOMEDCT_US:127030001
xref: SNOMEDCT_US:32037004
xref: UMLS:C0017671
is_a: HP:0002864 ! Paraganglioma of head and neck

[Term]
id: HP:0003002
name: Breast carcinoma
def: "The presence of a carcinoma of the breast." [HPO:probinson]
synonym: "Breast cancer" EXACT layperson []
xref: MSH:D001943
xref: NCIT:C2916
xref: SNOMEDCT_US:254838004
xref: UMLS:C0678222
is_a: HP:0100013 ! Neoplasm of the breast

[Term]
id: HP:0003003
name: Colon cancer
alt_id: HP:0006718
synonym: "Colon cancer" EXACT layperson []
xref: MSH:D003110
xref: SNOMEDCT_US:363406005
xref: UMLS:C0007102
is_a: HP:0100273 ! Neoplasm of the colon

[Term]
id: HP:0003005
name: Ganglioneuroma
def: "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells." [HPO:probinson]
comment: Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system.
xref: MSH:D005729
xref: SNOMEDCT_US:116371000119107
xref: SNOMEDCT_US:128919000
xref: SNOMEDCT_US:53801007
xref: UMLS:C0017075
is_a: HP:0030450 ! Neuroplasm of the autonomic nervous system

[Term]
id: HP:0003006
name: Neuroblastoma
alt_id: HP:0006738
def: "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:probinson]
synonym: "Cancer of early nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D009447
xref: NCIT:C3270
xref: SNOMEDCT_US:432328008
xref: SNOMEDCT_US:87364003
xref: UMLS:C0027819
is_a: HP:0004376 ! Neuroblastic tumors
is_a: HP:0030067 ! Peripheral primitive neuroectodermal neoplasm

[Term]
id: HP:0003009
name: Enhanced neurotoxicity of vincristine
xref: UMLS:C4025661
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003010
name: Prolonged bleeding time
alt_id: HP:0008294
alt_id: HP:0008337
def: "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding." [DDD:mumford]
comment: The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes.
synonym: "Increased bleeding time" EXACT []
synonym: "Prolonged bleeding time" EXACT layperson []
xref: UMLS:C0151529
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0003011
name: Abnormality of the musculature
alt_id: HP:0003197
alt_id: HP:0003708
def: "Abnormality originating in one or more muscles, i.e., of the set of muscles of body." [HPO:probinson]
synonym: "Muscular abnormality" EXACT layperson []
xref: UMLS:C4021745
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0003013
name: Bulging epiphyses
def: "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)." [HPO:probinson]
synonym: "Bulging end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1833329
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0003015
name: Flared metaphysis
alt_id: HP:0000945
alt_id: HP:0003047
alt_id: HP:0004994
alt_id: HP:0005015
alt_id: HP:0005095
alt_id: HP:0200002
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones." [HPO:probinson, pmid:12853662]
comment: Figure 11 of pmid:12853662 shows metaphyseal flaring.
synonym: "Flared wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Flared, widened metaphyses" EXACT []
synonym: "marked metaphyseal flaring of long bones" EXACT []
synonym: "Metaphyseal flaring" EXACT []
synonym: "Metaphyseal flaring of long bones" EXACT []
synonym: "Metaphyseal splaying" EXACT []
synonym: "Metaphyses flared" EXACT []
synonym: "Splayed metaphyses" EXACT []
xref: UMLS:C1850135
is_a: HP:0003016 ! Metaphyseal widening

[Term]
id: HP:0003016
name: Metaphyseal widening
alt_id: HP:0005074
def: "Abnormal widening of the metaphyseal regions of long bones." [HPO:probinson]
synonym: "Broad wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide metaphyses" EXACT []
synonym: "Widened long bone metaphyses" EXACT []
synonym: "Widened metaphyses" EXACT []
xref: UMLS:C1849039
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0003019
name: Abnormality of the wrist
alt_id: HP:0001224
def: "Abnormality of the wrist, the structure connecting the hand and the forearm." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormalities of the wrists" EXACT layperson []
synonym: "Abnormality of the wrist" EXACT layperson []
xref: UMLS:C4021744
is_a: HP:0009810 ! Abnormality of upper limb joint

[Term]
id: HP:0003020
name: Enlargement of the wrists
synonym: "Enlargement of the wrists" EXACT layperson []
xref: UMLS:C1838663
is_a: HP:0003019 ! Abnormality of the wrist

[Term]
id: HP:0003021
name: Metaphyseal cupping
def: "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:probinson]
xref: UMLS:C1837082
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0003022
name: Hypoplasia of the ulna
alt_id: HP:0002998
alt_id: HP:0005842
alt_id: HP:0006388
alt_id: HP:0006444
def: "Underdevelopment of the ulna." [HPO:curators]
subset: hposlim_core
synonym: "Hypoplastic ulna" EXACT []
synonym: "Short ulna" EXACT []
synonym: "Short ulnae" EXACT []
synonym: "Ulnar hypoplasia" EXACT []
synonym: "Underdeveloped inner large forearm bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Underdeveloped ulna" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:C538069
xref: UMLS:C1860614
xref: UMLS:C1862132
is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna
is_a: HP:0009821 ! Forearm undergrowth
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003023
name: Bowing of limbs due to multiple fractures
def: "Curvature of the shafts of the long bones due to multiple fractures." [HPO:curators]
synonym: "Bowed limbs due to multiple fractures" EXACT []
xref: UMLS:C1850178
is_a: HP:0002659 ! Increased susceptibility to fractures

[Term]
id: HP:0003025
name: Metaphyseal irregularity
alt_id: HP:0003017
alt_id: HP:0004995
alt_id: HP:0005016
alt_id: HP:0005032
alt_id: HP:0005038
alt_id: HP:0005058
alt_id: HP:0005062
alt_id: HP:0005065
alt_id: HP:0005078
alt_id: HP:0005896
def: "Irregularity of the normally smooth surface of the metaphyses." [HPO:probinson]
synonym: "Frayed, irregular metaphyses" EXACT []
synonym: "Frayed, irregular, metaphyses" EXACT []
synonym: "Irregular metaphyses" EXACT []
synonym: "Irregular wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Metaphyseal fraying" EXACT []
synonym: "Metaphyseal irregularities" EXACT []
xref: UMLS:C1838662
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0003026
name: Short long bone
alt_id: HP:0000949
alt_id: HP:0004983
alt_id: HP:0004988
alt_id: HP:0005000
alt_id: HP:0005029
alt_id: HP:0005044
alt_id: HP:0005052
alt_id: HP:0005077
alt_id: HP:0005083
alt_id: HP:0005647
alt_id: HP:0005822
alt_id: HP:0006382
alt_id: HP:0006457
alt_id: HP:0006472
def: "One or more abnormally short long bone." [HPO:probinson]
comment: Long bones are also known as tubular bones.
synonym: "Long bone shortening" EXACT layperson []
synonym: "Short long bone" EXACT layperson []
synonym: "Short tubular bones" EXACT []
synonym: "shortened long tubular bones" EXACT []
xref: UMLS:C1854912
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0003027
name: Mesomelia
def: "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken]
comment: Shortening of the limbs where the predominant shortness is in the middle bones.
synonym: "Disproportionately short middle portion of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Mesomelic limb shortening" EXACT []
synonym: "Mesomelic shortening of limbs" EXACT []
synonym: "Symmetric mesomelic limb shortness" EXACT []
xref: UMLS:C0549306
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0003028
name: Abnormality of the ankles
subset: hposlim_core
synonym: "Abnormality of the ankles" EXACT layperson []
xref: UMLS:C4025660
is_a: HP:0100491 ! Abnormality of lower limb joint

[Term]
id: HP:0003029
name: Enlargement of the ankles
synonym: "Enlargement of the ankles" EXACT layperson []
xref: UMLS:C1838664
is_a: HP:0003028 ! Abnormality of the ankles

[Term]
id: HP:0003031
name: Ulnar bowing
alt_id: HP:0003983
def: "Bending of the diaphysis (shaft) of the ulna." [HPO:probinson]
comment: Ulnar bowing is usually in the convex posterior direction.
subset: hposlim_core
synonym: "Bowed ulna" EXACT []
synonym: "Curved ulna" EXACT []
synonym: "Curving of inner forearm bone" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1865847
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0003956 ! Bowed forearm bones

[Term]
id: HP:0003034
name: Diaphyseal sclerosis
alt_id: HP:0005611
def: "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Craniodiaphyseal osteosclerosis" EXACT []
synonym: "Diaphyseal osteosclerosis" EXACT []
synonym: "Increased bone density in shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D003966
xref: SNOMEDCT_US:318761000119105
xref: SNOMEDCT_US:34643004
xref: UMLS:C0011989
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0006392 ! Increased density of long bones

[Term]
id: HP:0003037
name: Enlarged joints
def: "Increase in size of one or more joints." [HPO:probinson]
subset: hposlim_core
synonym: "Enlarged joints" EXACT layperson []
synonym: "Prominent joints" RELATED []
xref: UMLS:C1859111
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0003038
name: Fibular hypoplasia
alt_id: HP:0002985
alt_id: HP:0005887
alt_id: HP:0006401
def: "Underdevelopment of the fibula." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic fibula" EXACT []
synonym: "Short calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short fibula" EXACT []
synonym: "Short fibulae" EXACT []
xref: UMLS:C1832119
is_a: HP:0003026 ! Short long bone
is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula

[Term]
id: HP:0003040
name: Arthropathy
synonym: "Disease of the joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D007592
xref: SNOMEDCT_US:399269003
xref: UMLS:C0022408
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0003041
name: Humeroradial synostosis
alt_id: HP:0003936
def: "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:sdoelken]
synonym: "Fusion of upper and lower arm bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Humeral radial synostosis" EXACT []
synonym: "Humeral-radial synostosis" EXACT []
synonym: "Radiohumeral synostosis of elbow" EXACT []
synonym: "Synostosis of radius and humerus" EXACT []
xref: MSH:C535284
xref: SNOMEDCT_US:205329008
xref: UMLS:C1863360
xref: UMLS:C2930865
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0003938 ! Synostosis involving the elbow
is_a: HP:0100744 ! Abnormality of the humeroradial joint

[Term]
id: HP:0003042
name: Elbow dislocation
alt_id: HP:0006411
def: "Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet." [HPO:probinson]
synonym: "Dislocations of the elbows" EXACT layperson []
synonym: "Elbow dislocation" EXACT layperson []
synonym: "Elbow dislocations" EXACT layperson []
synonym: "Radiocapitellar dislocation" EXACT []
synonym: "Radiohumeral dislocation" EXACT []
synonym: "Ulnohumeral dislocation" EXACT []
xref: SNOMEDCT_US:125617002
xref: SNOMEDCT_US:417558002
xref: UMLS:C1403299
xref: UMLS:C1403321
xref: UMLS:C2720437
is_a: HP:0009811 ! Abnormality of the elbow
is_a: HP:0030310 ! Upper extremity joint dislocation

[Term]
id: HP:0003043
name: Abnormality of the shoulder
def: "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the shoulder" EXACT layperson []
xref: UMLS:C4025659
is_a: HP:0000765 ! Abnormality of the thorax
is_a: HP:0011844 ! Abnormal appendicular skeleton morphology

[Term]
id: HP:0003044
name: Shoulder flexion contracture
def: "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson]
xref: SNOMEDCT_US:202265005
xref: UMLS:C0409336
is_a: HP:0003043 ! Abnormality of the shoulder
is_a: HP:0100360 ! Contractures of the joints of the upper limbs

[Term]
id: HP:0003045
name: Abnormality of the patella
def: "Abnormality of the patella (knee cap)." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal kneecap" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Patellar abnormality" EXACT []
xref: UMLS:C4021743
is_a: HP:0002815 ! Abnormality of the knee

[Term]
id: HP:0003048
name: Radial head subluxation
def: "Partial dislocation of the head of the radius." [HPO:curators]
synonym: "Radial subluxation" EXACT []
synonym: "Radial-head subluxation" EXACT []
xref: SNOMEDCT_US:417109008
xref: SNOMEDCT_US:95854004
xref: UMLS:C0149977
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0003049
name: Ulnar deviation of the wrist
synonym: "Ulnar deviation of wrists" EXACT []
xref: SNOMEDCT_US:43689004
xref: UMLS:C0231678
is_a: HP:0003019 ! Abnormality of the wrist

[Term]
id: HP:0003051
name: Enlarged metaphyses
alt_id: HP:0005018
def: "Abnormal increase in size of one or more metaphyses." [HPO:probinson]
synonym: "Enlarged wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855544
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0003053
name: Epiphyseal deformities of tubular bones
xref: UMLS:C1854786
is_a: HP:0005930 ! Abnormality of epiphysis morphology

[Term]
id: HP:0003057
name: Tetraamelia
def: "Amelia of all four limbs." [HPO:sdoelken]
synonym: "Tetra-amelia" EXACT [HPO:sdoelken]
xref: MSH:C536498
xref: SNOMEDCT_US:702313004
xref: UMLS:C2931216
is_a: HP:0009827 ! Amelia

[Term]
id: HP:0003059
name: Abnormality of the radioulnar joints
xref: UMLS:C4025658
is_a: HP:0002973 ! Abnormality of the forearm
is_a: HP:0005262 ! Abnormality of the synovia

[Term]
id: HP:0003063
name: Abnormality of the humerus
alt_id: HP:0002988
def: "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators]
synonym: "Abnormality of the humeri" EXACT []
xref: UMLS:C4021742
is_a: HP:0001454 ! Abnormality of the upper arm
is_a: HP:0040070 ! Abnormal upper limb bone morphology

[Term]
id: HP:0003065
name: Patellar hypoplasia
alt_id: HP:0005020
def: "Underdevelopment of the patella." [HPO:curators]
synonym: "Hypoplastic patellae" EXACT []
synonym: "Small kneecap" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Small patella" EXACT []
synonym: "Small patellae" EXACT []
synonym: "Underdeveloped kneecap" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1840068
is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella

[Term]
id: HP:0003066
name: Limited knee extension
synonym: "Limited knee extension" EXACT layperson []
xref: UMLS:C1844690
is_a: HP:0002815 ! Abnormality of the knee

[Term]
id: HP:0003067
name: Madelung deformity
def: "An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna." [HPO:probinson, pmid:12362035]
subset: hposlim_core
synonym: "Madelung wrist deformity" EXACT []
xref: MSH:C562398
xref: SNOMEDCT_US:4530000
xref: UMLS:C0152441
is_a: HP:0003019 ! Abnormality of the wrist

[Term]
id: HP:0003068
name: Madelung-like forearm deformities
xref: UMLS:C1851419
is_a: HP:0002818 ! Abnormality of the radius

[Term]
id: HP:0003070
name: Elbow ankylosis
xref: SNOMEDCT_US:202307002
xref: UMLS:C0409477
is_a: HP:0009811 ! Abnormality of the elbow
is_a: HP:0031013 ! Ankylosis

[Term]
id: HP:0003071
name: Flattened epiphysis
alt_id: HP:0004982
alt_id: HP:0005051
alt_id: HP:0005076
alt_id: HP:0005080
def: "Abnormal flatness (decreased height) of epiphyses." [HPO:probinson]
synonym: "Flat end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Flat epiphyses" EXACT []
xref: UMLS:C1857527
is_a: HP:0005930 ! Abnormality of epiphysis morphology

[Term]
id: HP:0003072
name: Hypercalcemia
def: "An abnormally increased calcium concentration in the blood." [HPO:curators]
synonym: "High blood calcium levels" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Hypercalcaemia" EXACT []
synonym: "Increased calcium in blood" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006934
xref: SNOMEDCT_US:166702002
xref: SNOMEDCT_US:66931009
xref: UMLS:C0020437
is_a: HP:0004363 ! Abnormal circulating calcium concentration

[Term]
id: HP:0003073
name: Hypoalbuminemia
def: "Reduction in the concentration of albumin in the blood." [HPO:probinson]
synonym: "Hypoalbuminaemia" EXACT []
synonym: "Low albumin" BROAD layperson []
synonym: "Low blood albumin" EXACT layperson []
xref: MSH:D034141
xref: SNOMEDCT_US:119247004
xref: UMLS:C0239981
is_a: HP:0012116 ! Abnormal albumin level

[Term]
id: HP:0003074
name: Hyperglycemia
def: "An increased concentration of glucose in the blood." [HPO:probinson]
synonym: "High blood glucose" EXACT [ORCID:0000-0001-6908-9849]
synonym: "High blood sugar" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D006943
xref: SNOMEDCT_US:237598005
xref: SNOMEDCT_US:80394007
xref: UMLS:C0020456
is_a: HP:0011015 ! Abnormal blood glucose concentration

[Term]
id: HP:0003075
name: Hypoproteinemia
def: "A decreased concentration of protein in the blood." [HPO:gcarletti]
synonym: "Decreased protein levels in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D007019
xref: SNOMEDCT_US:8900005
xref: UMLS:C0020639
is_a: HP:0010876 ! Abnormal circulating protein level

[Term]
id: HP:0003076
name: Glycosuria
alt_id: HP:0003122
def: "An increased concentration of glucose in the urine." [HPO:gcarletti]
comment: Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis.
synonym: "Glucose in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Glucosuria" EXACT []
xref: MSH:D006029
xref: SNOMEDCT_US:45154002
xref: UMLS:C0017979
is_a: HP:0011016 ! Abnormality of urine glucose concentration

[Term]
id: HP:0003077
name: Hyperlipidemia
alt_id: HP:0008159
alt_id: HP:0008356
def: "An elevated lipid concentration in the blood." [HPO:probinson]
comment: Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL).
synonym: "Elevated lipids in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D006949
xref: SNOMEDCT_US:55822004
xref: UMLS:C0020473
is_a: HP:0003119 ! Abnormal circulating lipid concentration

[Term]
id: HP:0003079
name: Defective DNA repair after ultraviolet radiation damage
xref: UMLS:C1968564
is_a: HP:0003254 ! Abnormality of DNA repair

[Term]
id: HP:0003080
name: Hydroxyprolinuria
def: "An increased concentration of 4-hydroxy-L-proline the urine." [HPO:gcarletti]
synonym: "Elevated urinary hydroxyproline" EXACT layperson []
xref: UMLS:C0948585
is_a: HP:0003355 ! Aminoaciduria
is_a: HP:0010907 ! Abnormal circulating proline concentration

[Term]
id: HP:0003081
name: Increased urinary potassium
def: "An increased concentration of potassium(1+) in the urine." [HPO:probinson]
synonym: "Hyperkaliuresis" EXACT []
synonym: "Increased urinary K" EXACT HP:0045077 []
synonym: "Increased urinary potassium" EXACT layperson []
xref: UMLS:C1846351
is_a: HP:0012598 ! Abnormal urine potassium concentration

[Term]
id: HP:0003083
name: Dislocated radial head
alt_id: HP:0002975
alt_id: HP:0005673
alt_id: HP:0005836
def: "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators]
synonym: "Congenital radial head dislocation" EXACT []
synonym: "Dislocated radial heads" RELATED [HPO:skoehler]
synonym: "Dislocated radius" EXACT []
synonym: "Dislocation of radial head" EXACT []
synonym: "Dislocation of the radial head" EXACT []
synonym: "Radial dislocation" EXACT []
synonym: "Radial head dislocation" EXACT []
synonym: "Radial head dislocation/subluxation" EXACT []
xref: SNOMEDCT_US:9634000
xref: UMLS:C0265563
is_a: HP:0003042 ! Elbow dislocation
is_a: HP:0003995 ! Abnormality of the radial head
is_a: HP:0100744 ! Abnormality of the humeroradial joint

[Term]
id: HP:0003084
name: Fractures of the long bones
alt_id: HP:0005847
def: "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)." [HPO:curators]
synonym: "Increased long bone fracture rate" EXACT []
xref: UMLS:C0240231
is_a: HP:0002757 ! Recurrent fractures
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0003085
name: Long fibula
def: "Disproportionately long fibulae." [HPO:probinson]
subset: hposlim_core
synonym: "Disproportionately long fibula" EXACT []
synonym: "Long calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Long fibula" EXACT layperson []
xref: UMLS:C1848109
is_a: HP:0002991 ! Abnormality of fibula morphology

[Term]
id: HP:0003086
name: Acromesomelia
def: "Small hands and feet." [HPO:probinson, pmid:22286749]
xref: UMLS:C1864365
is_a: HP:0003027 ! Mesomelia

[Term]
id: HP:0003088
name: Premature osteoarthritis
synonym: "Premature arthritis" EXACT layperson []
synonym: "Premature osteoarthritis" EXACT layperson []
xref: UMLS:C1835121
is_a: HP:0002758 ! Osteoarthritis

[Term]
id: HP:0003089
name: Hamstring contractures
synonym: "Hamstring contractures" EXACT layperson []
xref: SNOMEDCT_US:203074005
xref: UMLS:C0410266
is_a: HP:0005750 ! Contractures of the joints of the lower limbs

[Term]
id: HP:0003090
name: Hypoplasia of the capital femoral epiphysis
alt_id: HP:0003374
alt_id: HP:0008791
alt_id: HP:0008792
def: "Underdevelopment of the proximal epiphysis of the femur." [HPO:probinson]
synonym: "Small capital femoral epiphyses" EXACT []
synonym: "Small femoral capital epiphyses" EXACT []
synonym: "Small innermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small proximal femoral epiphyses" EXACT []
synonym: "Underdevelopment of the innermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1839254
is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis

[Term]
id: HP:0003091
name: Trophic limb changes
def: "Trophic changes occurring in a limb." [HPO:probinson]
xref: UMLS:C4025657
is_a: HP:0010834 ! Trophic changes related to pain

[Term]
id: HP:0003093
name: Limited hip extension
alt_id: HP:0008810
def: "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward." [HPO:probinson]
comment: Reduced ability to straighten out the femur.
synonym: "Limited hip extension" EXACT layperson []
synonym: "Restricted hip extension" EXACT layperson []
xref: UMLS:C3553368
is_a: HP:0008800 ! Limited hip movement

[Term]
id: HP:0003095
name: Septic arthritis
synonym: "Infected joint" BROAD layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D001170
xref: SNOMEDCT_US:372939007
xref: SNOMEDCT_US:396234004
xref: UMLS:C0003869
xref: UMLS:C4280547
is_a: HP:0001369 ! Arthritis
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0003097
name: Short femur
alt_id: HP:0009749
def: "An abnormal shortening of the femur." [HPO:probinson]
subset: hposlim_core
synonym: "Femoral hypoplasia" EXACT []
synonym: "Hypoplasia of the femora" EXACT []
synonym: "Short femurs" EXACT []
synonym: "Short thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:93255008
xref: UMLS:C0345375
is_a: HP:0003026 ! Short long bone
is_a: HP:0005613 ! Aplasia/hypoplasia of the femur

[Term]
id: HP:0003099
name: Fibular overgrowth
def: "Relatively increased growth of the fibula compared to that of the tibia." [HPO:probinson, pmid:17259417]
synonym: "Overgrowth of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1864298
is_a: HP:0002991 ! Abnormality of fibula morphology

[Term]
id: HP:0003100
name: Slender long bone
alt_id: HP:0003060
alt_id: HP:0003061
alt_id: HP:0003096
alt_id: HP:0005064
def: "Reduced diameter of a long bone." [HPO:probinson]
synonym: "Gracile long bones" EXACT []
synonym: "Long bones slender" EXACT layperson []
synonym: "Slender long bone" EXACT layperson []
synonym: "Slender long bones" RELATED layperson [HPO:skoehler]
synonym: "Slender, gracile long tubular bones" EXACT []
synonym: "Thin gracile long bones" RELATED []
synonym: "Thin long bones" EXACT layperson []
synonym: "Thin, gracile long bones" EXACT []
xref: UMLS:C1833144
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0003102
name: Increased carrying angle
def: "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm." [HPO:probinson, pmid:18506557]
comment: Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis.
xref: UMLS:C1855478
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003103
name: Abnormal cortical bone morphology
def: "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones." [HPO:sdoelken]
synonym: "Abnormal compact bone morphology" EXACT []
synonym: "Abnormality of cortical bone" EXACT []
xref: UMLS:C4021741
is_a: HP:0003330 ! Abnormal bone structure

[Term]
id: HP:0003105
name: Protuberances at ends of long bones
def: "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones." [HPO:probinson]
synonym: "Protuberances at ends of long bones" EXACT layperson []
xref: UMLS:C1851418
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0003106
name: Subperiosteal bone resorption
def: "Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone." [PMID:24849102]
synonym: "Subperiosteal erosions" EXACT []
xref: UMLS:C1848541
is_a: HP:0002813 ! Abnormality of limb bone morphology

[Term]
id: HP:0003107
name: Abnormal circulating cholesterol concentration
alt_id: HP:0003464
def: "Any deviation from the normal concentration of cholesterol in the blood circulation." []
synonym: "Abnormal cholesterol homeostasis" EXACT []
synonym: "Abnormality of cholesterol metabolism" EXACT layperson []
xref: UMLS:C4025656
is_a: HP:0003119 ! Abnormal circulating lipid concentration
created_by: peter
creation_date: 2008-03-17T01:02:00Z

[Term]
id: HP:0003108
name: Hyperglycinuria
alt_id: HP:0002931
def: "An increased concentration of glycine in the urine." [HPO:gcarletti, pmid:18901181, pmid:20240447]
comment: Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours.
synonym: "Glycinuria" EXACT []
synonym: "High urine glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C563009
xref: SNOMEDCT_US:236477004
xref: UMLS:C0341706
xref: UMLS:C0543541
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003109
name: Hyperphosphaturia
alt_id: HP:0003266
def: "An increased excretion of phosphates in the urine." [HPO:curators]
synonym: "High urine phosphate levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Phosphaturia" EXACT []
xref: SNOMEDCT_US:22450000
xref: UMLS:C0268079
xref: UMLS:C0948023
is_a: HP:0012599 ! Abnormal urine phosphate concentration

[Term]
id: HP:0003110
name: Abnormality of urine homeostasis
alt_id: HP:0011865
alt_id: HP:0011866
def: "An abnormality of the composition of urine or the levels of its components." [HPO:probinson]
synonym: "Pee issues" EXACT layperson []
synonym: "Urine issues" EXACT layperson []
xref: UMLS:C4025655
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
is_a: HP:0011277 ! Abnormality of the urinary system physiology

[Term]
id: HP:0003111
name: Abnormal blood ion concentration
alt_id: HP:0003253
def: "Abnormality of the homeostasis (concentration) of a monoatomic ion." [HPO:probinson]
synonym: "Abnormality of ion homeostasis" EXACT []
synonym: "Electrolyte disorders" EXACT layperson []
xref: SNOMEDCT_US:237840007
xref: UMLS:C1704431
xref: UMLS:C4025654
is_a: HP:0032180 ! Abnormal circulating metabolite concentration

[Term]
id: HP:0003112
name: Abnormality of serum amino acid level
def: "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." [HPO:curators]
synonym: "Abnormality of serum amino acid levels" EXACT layperson []
xref: UMLS:C4025653
is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration

[Term]
id: HP:0003113
name: Hypochloremia
def: "An abnormally decreased chloride concentration in the blood." [HPO:probinson]
synonym: "Low blood chloride levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:10399008
xref: UMLS:C0085680
xref: UMLS:C0595901
is_a: HP:0011422 ! Abnormal blood chloride concentration

[Term]
id: HP:0003114
name: obsolete Abnormal cardiological findings
is_obsolete: true
replaced_by: HP:0001626

[Term]
id: HP:0003115
name: Abnormal EKG
def: "Abnormal rhythm of the heart." []
synonym: "Abnormal ECG" EXACT layperson []
synonym: "Abnormal EKG" EXACT layperson []
synonym: "Abnormal electrocardiogram" EXACT []
synonym: "EKG abnormality" EXACT HP:0045077 []
xref: SNOMEDCT_US:102594003
xref: UMLS:C0522055
is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology
is_a: HP:0500015 ! Abnormal cardiac test

[Term]
id: HP:0003116
name: Abnormal echocardiogram
def: "An abnormality detectable by sonography of the heart (echocardiography)." [HPO:probinson]
comment: Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627).
synonym: "Abnormal echocardiogram" EXACT layperson []
synonym: "Abnormal echocardiography" EXACT layperson []
xref: SNOMEDCT_US:169241000
xref: UMLS:C0476369
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
is_a: HP:0500015 ! Abnormal cardiac test

[Term]
id: HP:0003117
name: Abnormal circulating hormone level
def: "An abnormal concentration of a hormone in the blood." [HPO:probinson]
synonym: "Abnormality of circulating hormone level" EXACT layperson []
xref: UMLS:C4025652
is_a: HP:0000818 ! Abnormality of the endocrine system

[Term]
id: HP:0003118
name: Increased circulating cortisol level
alt_id: HP:0000850
alt_id: HP:0001578
alt_id: HP:0004316
def: "Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features." [DDD:spark]
synonym: "Cushing syndrome" EXACT []
synonym: "Hypercortisolism" EXACT [HPO:skoehler]
synonym: "Increased circulating cortisol level" EXACT layperson []
synonym: "Increased cortisol production" EXACT []
xref: MSH:D000308
xref: SNOMEDCT_US:237735008
xref: SNOMEDCT_US:275437005
xref: SNOMEDCT_US:47270006
xref: UMLS:C0001622
xref: UMLS:C0342443
xref: UMLS:C4025651
is_a: HP:0002717 ! Adrenal overactivity
is_a: HP:0011731 ! Abnormality of circulating cortisol level

[Term]
id: HP:0003119
name: Abnormal circulating lipid concentration
alt_id: HP:0003611
def: "An abnormality in the of lipid metabolism." [HPO:probinson]
comment: According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.
synonym: "Dyslipidemia" RELATED []
xref: MSH:D050171
xref: SNOMEDCT_US:370992007
xref: UMLS:C0242339
xref: UMLS:C4025650
is_a: HP:0032180 ! Abnormal circulating metabolite concentration

[Term]
id: HP:0003121
name: Limb joint contracture
alt_id: HP:0005631
alt_id: HP:0005839
def: "A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." [HPO:probinson]
synonym: "Limb contractures" EXACT layperson []
xref: UMLS:C1969879
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0003124
name: Hypercholesterolemia
alt_id: HP:0008154
alt_id: HP:0008173
alt_id: HP:0008359
def: "An increased concentration of cholesterol in the blood." [HPO:gcarletti]
synonym: "Elevated serum cholesterol" EXACT layperson []
synonym: "Elevated total cholesterol" EXACT layperson []
synonym: "High cholesterol" BROAD layperson []
synonym: "Increased total cholesterol" EXACT layperson []
xref: MSH:D006937
xref: SNOMEDCT_US:13644009
xref: SNOMEDCT_US:166830008
xref: UMLS:C0020443
xref: UMLS:C0595929
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration

[Term]
id: HP:0003125
name: Reduced factor VIII activity
alt_id: HP:0008349
alt_id: HP:0008355
def: "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [HPO:probinson]
synonym: "Factor VIII deficiency" RELATED []
xref: MSH:D006467
xref: SNOMEDCT_US:234440005
xref: UMLS:C3494187
xref: UMLS:C4025649
is_a: HP:0030976 ! Abnormal factor VIII activity

[Term]
id: HP:0003126
name: Low-molecular-weight proteinuria
def: "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)." [pmid:95574]
synonym: "Tubular proteinuria" EXACT []
xref: UMLS:C1839606
is_a: HP:0000093 ! Proteinuria

[Term]
id: HP:0003127
name: Hypocalciuria
def: "An abnormally decreased calcium concentration in the urine." [HPO:probinson]
synonym: "Low urine calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:86353007
xref: UMLS:C0020599
is_a: HP:0011280 ! Abnormality of urine calcium concentration

[Term]
id: HP:0003128
name: Lactic acidosis
alt_id: HP:0003255
alt_id: HP:0005960
def: "An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids." [HPO:probinson]
comment: Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably.
synonym: "Hyperlacticacidemia" EXACT []
synonym: "Increased lactate in body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Lactic acidemia" EXACT []
synonym: "Lacticacidemia" EXACT []
synonym: "Lacticacidosis" EXACT []
xref: MSH:D000140
xref: SNOMEDCT_US:190882007
xref: SNOMEDCT_US:91273001
xref: UMLS:C0001125
xref: UMLS:C0347959
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0003130
name: Abnormal peripheral myelination
alt_id: HP:0003408
def: "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense." [DDD:fmunitoni, HPO:jbaets]
comment: This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011).
xref: UMLS:C4025648
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
is_a: HP:0012447 ! Abnormal myelination

[Term]
id: HP:0003131
name: Cystinuria
def: "An increased concentration of cystine in the urine." [HPO:gcarletti]
comment: Cystine is a sulfur-containing amino acid.
synonym: "High urine cystine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D003555
xref: SNOMEDCT_US:85020001
xref: UMLS:C0010691
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003133
name: Abnormality of the spinocerebellar tracts
def: "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract." [HPO:probinson]
xref: UMLS:C4025647
is_a: HP:0002143 ! Abnormality of the spinal cord

[Term]
id: HP:0003134
name: Abnormality of peripheral nerve conduction
alt_id: HP:0006832
alt_id: HP:0007186
def: "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)." [HPO:probinson]
comment: A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured.
synonym: "Abnormal peripheral nerve transmission" RELATED []
synonym: "Sensory and motor nerve conduction abnormalities" EXACT []
xref: UMLS:C4020690
is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology
is_a: HP:0045010 ! Abnormality of peripheral nerves

[Term]
id: HP:0003137
name: Prolinuria
def: "An increased concentration of proline in the urine." [HPO:probinson]
comment: Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours.
xref: SNOMEDCT_US:53124003
xref: UMLS:C0268534
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003138
name: Increased blood urea nitrogen
def: "An increased amount of nitrogen in the form of urea in the blood." [HPO:gcarletti]
synonym: "Increased blood urea nitrogen" EXACT layperson []
synonym: "Increased BUN" EXACT HP:0045077 []
xref: UMLS:C0151539
is_a: HP:0002157 ! Azotemia
is_a: HP:0031970 ! Abnormal blood urea nitrogen concentration

[Term]
id: HP:0003139
name: Panhypogammaglobulinemia
def: "A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes." [PMID:23726535]
synonym: "Panypogammaglobulinemia" EXACT []
xref: UMLS:C1328587
is_a: HP:0004313 ! Decreased antibody level in blood

[Term]
id: HP:0003140
name: T-wave inversion in the right precordial leads
xref: UMLS:C4025646
is_a: HP:0010872 ! T-wave inversion

[Term]
id: HP:0003141
name: Increased LDL cholesterol concentration
alt_id: HP:0008343
def: "An elevated concentration of low-density lipoprotein cholesterol in the blood." [HPO:probinson]
synonym: "Hyperbetalipoproteinemia" EXACT []
synonym: "Increased beta-lipoproteins" EXACT []
synonym: "Increased circulating LDL level" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased circulating low-density lipoprotein cholesterol" EXACT []
synonym: "Increased circulating low-density lipoprotein levels" EXACT []
synonym: "Increased LDL cholesterol" EXACT layperson []
synonym: "Increased LDLc concentration" EXACT HP:0045077 []
synonym: "Increased plasma LDL levels" EXACT HP:0045077 []
xref: MSH:D006938
xref: SNOMEDCT_US:190773008
xref: SNOMEDCT_US:398036000
xref: UMLS:C0020445
xref: UMLS:C0549399
is_a: HP:0010980 ! Hyperlipoproteinemia
is_a: HP:0031886 ! Abnormal LDL cholesterol concentration

[Term]
id: HP:0003142
name: Excessive purine production
xref: UMLS:C4025645
is_a: HP:0012337 ! Abnormal homeostasis

[Term]
id: HP:0003144
name: Increased serum serotonin
def: "A increased concentration of serotonin in the blood." [HPO:probinson]
synonym: "Increased serum serotonin" EXACT layperson []
xref: UMLS:C0877243
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0003145
name: Decreased adenosylcobalamin
def: "Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12." [HPO:probinson]
synonym: "Decreased ADOCBL" EXACT []
xref: UMLS:C1848556
is_a: HP:0040126 ! Abnormal vitamin B12 level

[Term]
id: HP:0003146
name: Hypocholesterolemia
def: "An decreased concentration of cholesterol in the blood." [HPO:gcarletti]
synonym: "Decreased circulating cholesterol level" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:61336008
xref: UMLS:C0151718
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration

[Term]
id: HP:0003148
name: Elevated serum acid phosphatase
comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme.
synonym: "Acid phosphatase elevated" EXACT layperson []
synonym: "Elevated serum acid phosphatase" EXACT layperson []
xref: UMLS:C1839866
is_a: HP:0004356 ! Abnormality of lysosomal metabolism

[Term]
id: HP:0003149
name: Hyperuricosuria
def: "An abnormally high level of uric acid in the urine." [HPO:probinson]
synonym: "High urine uric acid level" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0948643
is_a: HP:0003110 ! Abnormality of urine homeostasis
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration

[Term]
id: HP:0003150
name: Glutaric aciduria
alt_id: HP:0003490
def: "An increased concentration of glutaric acid in the urine." [HPO:gcarletti]
synonym: "Glutarate aciduria" EXACT [https://orcid.org/0000-0001-9969-8610]
synonym: "Glutaricaciduria" EXACT []
synonym: "Increased glutarate level in urine" EXACT [CHEBI:24329, https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:28987007
xref: UMLS:C0268594
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0003152
name: Increased serum 1,25-dihydroxyvitamin D3
synonym: "Increased serum calcitriol" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1833331
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0003153
name: Cystathioninuria
def: "An elevated urinary concentration of cystathionine." [HPO:probinson]
comment: Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine.
synonym: "High urine cystathionine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:13003007
xref: UMLS:C0220993
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003154
name: Increased circulating ACTH level
def: "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson]
synonym: "High blood corticotropin levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased circulating ACTH level" EXACT layperson []
synonym: "Increased plasma ACTH" EXACT []
xref: UMLS:C4021740
is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level

[Term]
id: HP:0003155
name: Elevated alkaline phosphatase
alt_id: HP:0002911
alt_id: HP:0003636
alt_id: HP:0008296
def: "Abnormally increased serum levels of alkaline phosphatase activity." [HPO:probinson]
synonym: "Elevated alkaline phosphatase" EXACT layperson []
synonym: "Elevated ALP" EXACT HP:0045077 []
synonym: "Greatly elevated alkaline phosphatase" EXACT layperson []
synonym: "High serum alkaline phosphatase" EXACT layperson []
synonym: "Hyperphosphatasemia" EXACT []
synonym: "Hyperphosphatasia" EXACT [HPO:probinson]
synonym: "Increased alkaline phosphatase" EXACT layperson []
synonym: "Increased serum alkaline phosphatase" EXACT layperson []
xref: UMLS:C0750857
is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity

[Term]
id: HP:0003158
name: Hyposthenuria
def: "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine." [HPO:probinson]
comment: Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus.
synonym: "Reduced urinary osmolality" EXACT []
xref: SNOMEDCT_US:76023003
xref: UMLS:C0232831
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003159
name: Hyperoxaluria
def: "Increased excretion of oxalates in the urine." [HPO:probinson]
synonym: "High urine oxalate levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased level of oxalate in urine" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-9969-8610, PMID:11135054]
xref: MSH:D006959
xref: SNOMEDCT_US:367621000119107
xref: UMLS:C0020500
is_a: HP:0001992 ! Organic aciduria

[Term]
id: HP:0003160
name: Abnormal isoelectric focusing of serum transferrin
def: "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded." [HPO:probinson, pmid:22516080]
comment: Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin.
synonym: "Abnormal isoelectric focusing of serum transferrin" EXACT []
synonym: "Abnormal transferrin isoelectric focusing" EXACT []
xref: UMLS:C2749688
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation

[Term]
id: HP:0003161
name: 4-Hydroxyphenylpyruvic aciduria
def: "Increased concentration of pyruvic acid in the urine." [HPO:probinson]
synonym: "Hydroxyphenylpyruvic aciduria" EXACT []
xref: UMLS:C1848678
is_a: HP:0040156 ! Elevated urinary carboxylic acid

[Term]
id: HP:0003162
name: Fasting hypoglycemia
synonym: "Low blood sugar when fasting" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D007003
xref: SNOMEDCT_US:6974005
xref: UMLS:C0271708
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0003163
name: Elevated urinary delta-aminolevulinic acid
def: "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine." [HPO:probinson]
comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis.
synonym: "Elevated urinary delta-aminolevulinic acid" EXACT layperson []
xref: UMLS:C1848702
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003164
name: Hypothalamic gonadotropin-releasing hormone deficiency
synonym: "Hypothalamic GNRH deficiency" EXACT []
xref: UMLS:C4025644
is_a: HP:0012285 ! Abnormal hypothalamus physiology
is_a: HP:0500012 ! Abnormality of gonadotropin-releasing hormone level

[Term]
id: HP:0003165
name: Elevated circulating parathyroid hormone level
def: "An abnormal increased concentration of parathyroid hormone." [HPO:probinson]
synonym: "Elevated circulating PTH level" EXACT []
synonym: "Elevated serum parathyroid hormone" EXACT []
synonym: "Elevated serum parathyroid hormone level" EXACT []
synonym: "Elevated serum pth" EXACT []
synonym: "Increased serum parathyroid hormone" EXACT []
xref: UMLS:C0857973
is_a: HP:0100530 ! Abnormal calcium-phosphate regulating hormone level

[Term]
id: HP:0003166
name: Increased urinary taurine
def: "Increased concentration of taurine in the urine." [HPO:probinson]
synonym: "Increased urinary taurine" EXACT layperson []
xref: UMLS:C3806447
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003167
name: Carnosinuria
def: "An increased concentration of carnosine in the urine." [HPO:probinson]
comment: Carnosine is the N-(beta-alanyl) derivative of L-histidine.
synonym: "High urine carnosine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:410051001
xref: UMLS:C3495558
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003168
name: Dibasicaminoaciduria
xref: UMLS:C4025643
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003170
name: Abnormality of the acetabulum
def: "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the hipbone socket" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Acetabular abnormality" EXACT []
xref: UMLS:C4021739
is_a: HP:0001384 ! Abnormality of the hip joint

[Term]
id: HP:0003172
name: Abnormality of the pubic bone
def: "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the pubic bone" EXACT layperson []
synonym: "Abnormality of the pubic bones" EXACT layperson []
synonym: "Abnormality of the pubis" EXACT layperson []
xref: UMLS:C4021738
is_a: HP:0003272 ! Abnormality of the hip bone

[Term]
id: HP:0003173
name: Hypoplastic pubic bone
def: "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone." [HPO:probinson]
synonym: "Hypoplastic pubic bones" EXACT []
synonym: "Hypoplastic pubis" EXACT []
xref: UMLS:C1865030
is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone

[Term]
id: HP:0003174
name: Abnormality of the ischium
def: "An anomaly of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson]
comment: The ischium, together with the ilium and the pubis, forms the hip bone (os coxae).
synonym: "Abnormality of the ischial bones" EXACT []
synonym: "Anomaly of the ischium" EXACT []
xref: SNOMEDCT_US:93008005
xref: UMLS:C0685661
is_a: HP:0003272 ! Abnormality of the hip bone

[Term]
id: HP:0003175
name: Hypoplastic ischia
def: "Underdevelopment of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic ischial bones" EXACT []
synonym: "Hypoplastic ischii" EXACT []
synonym: "Hypoplastic ischium" EXACT []
xref: UMLS:C1859447
is_a: HP:0003174 ! Abnormality of the ischium

[Term]
id: HP:0003177
name: Squared iliac bones
def: "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance." [HPO:probinson]
synonym: "Square iliac bones" EXACT []
synonym: "Squaring of iliac bones" EXACT []
xref: UMLS:C1838186
is_a: HP:0002867 ! Abnormality of the ilium

[Term]
id: HP:0003179
name: Protrusio acetabuli
def: "Intrapelvic bulging of the medial acetabular wall." [HPO:probinson]
comment: Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head.
subset: hposlim_core
synonym: "Protrusio acetabulae" EXACT []
xref: SNOMEDCT_US:59606006
xref: UMLS:C0409495
is_a: HP:0003170 ! Abnormality of the acetabulum

[Term]
id: HP:0003180
name: Flat acetabular roof
alt_id: HP:0003171
alt_id: HP:0008832
alt_id: HP:0008834
def: "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does." [HPO:probinson]
subset: hposlim_core
synonym: "Flat acetabular roofs" EXACT []
synonym: "Flattened acetabular roof" EXACT []
synonym: "Horizontal acetabulae" EXACT []
synonym: "Horizontal acetabular roof" EXACT []
synonym: "Horizontal acetabular roofs" EXACT []
xref: UMLS:C1837485
is_a: HP:0003170 ! Abnormality of the acetabulum

[Term]
id: HP:0003182
name: Shallow acetabular fossae
synonym: "Shallow acetabula" EXACT []
synonym: "Shallow acetabulae" EXACT []
synonym: "Shallow acetabular fossa" EXACT []
synonym: "Shallow acetabulum" EXACT []
xref: UMLS:C1854910
xref: UMLS:C1860796
is_a: HP:0003170 ! Abnormality of the acetabulum

[Term]
id: HP:0003183
name: Wide pubic symphysis
def: "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [HPO:probinson]
subset: hposlim_core
synonym: "Wide symphysis of pubis" EXACT []
xref: UMLS:C1857190
is_a: HP:0003172 ! Abnormality of the pubic bone

[Term]
id: HP:0003184
name: Decreased hip abduction
def: "Reduced ability to move the femur outward to the side." [HPO:probinson]
synonym: "Limited hip abduction" EXACT []
xref: UMLS:C1836589
is_a: HP:0008800 ! Limited hip movement

[Term]
id: HP:0003185
name: Short sacroiliac notch
alt_id: HP:0008815
def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch." [HPO:probinson]
synonym: "Shortened sacroiliac notches" EXACT []
synonym: "Small sacroiliac notch" EXACT []
xref: UMLS:C1866689
is_a: HP:0030266 ! Abnormality of the sacroiliac notch

[Term]
id: HP:0003186
name: Inverted nipples
def: "The presence of nipples that instead of pointing outward are retracted inwards." [HPO:sdoelken]
synonym: "Invaginated nipples" EXACT [HPO:curators]
synonym: "Inverted nipples" EXACT layperson []
xref: SNOMEDCT_US:82231009
xref: UMLS:C0269269
is_a: HP:0004404 ! Abnormal nipple morphology

[Term]
id: HP:0003187
name: Breast hypoplasia
alt_id: HP:0000784
def: "Underdevelopment of the breast." [HPO:probinson]
synonym: "Underdeveloped breasts" EXACT layperson []
xref: SNOMEDCT_US:8915006
xref: UMLS:C0266013
is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts

[Term]
id: HP:0003189
name: Long nose
alt_id: HP:0005283
alt_id: HP:0200142
def: "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base." [pmid:19152422]
synonym: "Elongated nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased height of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased length of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased nasal height" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased nasal length" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long nose" EXACT layperson []
synonym: "Nasal elongation" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1839798
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0003191
name: Cleft ala nasi
alt_id: HP:0004412
def: "The presence of a notch in the margin of the ala nasi." [HPO:probinson, pmid:19152422]
comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity.
synonym: "Ala nasi, cleft" EXACT []
synonym: "Alar clefts" EXACT []
synonym: "Cleft nasal alae" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft nostril" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nostril coloboma" RELATED []
synonym: "Notched nasal alae" EXACT []
xref: UMLS:C1844537
is_a: HP:0000429 ! Abnormality of the nasal alae

[Term]
id: HP:0003193
name: Allergic rhinitis
def: "It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea." [PMID:11449200]
synonym: "Hay fever" EXACT layperson []
synonym: "Hayfever" EXACT layperson []
synonym: "Nasal allergies" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D065631
xref: SNOMEDCT_US:61582004
xref: UMLS:C0847614
xref: UMLS:C2607914
is_a: HP:0012384 ! Rhinitis
is_a: HP:0012393 ! Allergy

[Term]
id: HP:0003194
name: Short nasal bridge
synonym: "Decreased length of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased length of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short nasal bridge" EXACT layperson []
xref: UMLS:C1854689
is_a: HP:0000422 ! Abnormality of the nasal bridge

[Term]
id: HP:0003196
name: Short nose
alt_id: HP:0000440
alt_id: HP:0000449
alt_id: HP:0000450
alt_id: HP:0003192
alt_id: HP:0003195
alt_id: HP:0005270
alt_id: HP:0200092
def: "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, pmid:19152422]
comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately.
subset: hposlim_core
synonym: "Decreased length of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic nose" EXACT []
synonym: "Nasal hypoplasia" EXACT []
synonym: "Short nose" EXACT layperson []
synonym: "Shortened nose" EXACT layperson [HPO:skoehler]
synonym: "Small nose" RELATED layperson []
xref: SNOMEDCT_US:249310005
xref: UMLS:C0426414
xref: UMLS:C1854114
is_a: HP:0005105 ! Abnormal nasal morphology

[Term]
id: HP:0003198
name: Myopathy
alt_id: HP:0003569
alt_id: HP:0003705
alt_id: HP:0003742
alt_id: HP:0003802
def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson]
comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy.
synonym: "Muscle tissue disease" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Myopathic changes" EXACT []
xref: MSH:D009135
xref: SNOMEDCT_US:129565002
xref: UMLS:C0026848
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0003199
name: Decreased muscle mass
alt_id: HP:0003732
synonym: "Decreased muscle mass" EXACT layperson []
synonym: "Underdeveloped muscles" EXACT layperson []
xref: UMLS:C1837108
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0003200
name: Ragged-red muscle fibers
alt_id: HP:0009076
def: "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm." [HPO:probinson, pmid:12075011, pmid:16537564]
comment: This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH).
synonym: "Mitochondrial proliferation in muscle tissue" EXACT []
synonym: "Ragged red muscle fibers" EXACT []
synonym: "Ragged-red fibers" EXACT []
xref: UMLS:C3275417
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0003201
name: Rhabdomyolysis
def: "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream." [HPO:probinson]
synonym: "Breakdown of skeletal muscle" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D012206
xref: SNOMEDCT_US:240131006
xref: SNOMEDCT_US:89010004
xref: UMLS:C0035410
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0003202
name: Skeletal muscle atrophy
alt_id: HP:0001299
alt_id: HP:0003545
alt_id: HP:0003671
alt_id: HP:0003702
alt_id: HP:0003746
alt_id: HP:0006995
alt_id: HP:0007171
alt_id: HP:0007356
alt_id: HP:0009010
alt_id: HP:0009048
alt_id: HP:0100868
def: "The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson]
synonym: "Amyotrophy" EXACT []
synonym: "Amyotrophy involving the extremities" EXACT []
synonym: "Muscle atrophy" EXACT []
synonym: "Muscle atrophy, neurogenic" EXACT []
synonym: "Muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Muscle hypotrophy" EXACT []
synonym: "Muscle wasting" EXACT layperson []
synonym: "Muscular atrophy" EXACT []
synonym: "Neurogenic muscle atrophy" EXACT []
synonym: "Neurogenic muscle atrophy, especially in the lower limbs" EXACT []
synonym: "Neurogenic muscular atrophy" EXACT []
xref: MSH:D009133
xref: SNOMEDCT_US:74035001
xref: UMLS:C0234958
xref: UMLS:C0270948
xref: UMLS:C0541794
xref: UMLS:C1843479
is_a: HP:0030236 ! Abnormality of muscle size
is_a: HP:0040290 ! Abnormality of skeletal muscles

[Term]
id: HP:0003203
name: Impaired oxidative burst
def: "In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria." [HPO:probinson]
comment: The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease.
synonym: "Negative NBT reduction test" EXACT []
synonym: "Negative nitroblue tetrazolium reduction test" EXACT []
xref: UMLS:C4280805
is_a: HP:0011993 ! Impaired neutrophil bactericidal activity

[Term]
id: HP:0003204
name: Intracellular accumulation of autofluorescent lipopigment storage material
def: "The intracellular accumulation of autofluorescent storage material." [HPO:probinson, pmid:16455164]
comment: Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation.
xref: UMLS:C4025642
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003205
name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
def: "An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern." [HPO:probinson]
synonym: "'curvilinear profiles' ultrastructurally" EXACT []
synonym: "'Curvilinear profiles' ultrastructurally in cells" EXACT []
synonym: "Curvilinear profiles ultrastructurally" EXACT []
synonym: "Intracellular curvilinear profiles on ultrastructural analysis" EXACT []
xref: UMLS:C1836852
is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material

[Term]
id: HP:0003206
name: Decreased activity of NADPH oxidase
xref: UMLS:C1844394
is_a: HP:0004358 ! Abnormality of superoxide metabolism

[Term]
id: HP:0003207
name: Arterial calcification
alt_id: HP:0012455
def: "Pathological deposition of calcium salts in one or more arteries." [HPO:probinson, pmid:18519861]
comment: Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861).
xref: UMLS:C1168153
is_a: HP:0004934 ! Vascular calcification
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: peter
creation_date: 2008-03-26T04:05:00Z

[Term]
id: HP:0003208
name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
def: "An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern." [HPO:probinson]
synonym: "'Fingerprint profiles' ultrastructurally in cells" EXACT []
synonym: "Fingerprint profiles ultrastructurally" EXACT []
xref: UMLS:C1836851
is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material

[Term]
id: HP:0003209
name: Decreased pyruvate carboxylase activity
def: "A decreased rate of pyruvate carboxylase activity." [HPO:probinson]
comment: Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle.
xref: UMLS:C4025641
is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism

[Term]
id: HP:0003210
name: Decreased methylmalonyl-CoA mutase activity
def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity." [HPO:probinson]
comment: The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids.
synonym: "Decreased methylmalonyl CoA mutase activity" EXACT []
xref: UMLS:C1848579
is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism

[Term]
id: HP:0003212
name: Increased circulating total IgE level
alt_id: HP:0005382
alt_id: HP:0005418
alt_id: HP:0005433
def: "An abnormally increased overall level of immunoglobulin E in blood." [HPO:probinson]
synonym: "Elevated immunoglobulin E" EXACT []
synonym: "Elevated serum IgE" EXACT []
synonym: "High immunoglobulin E" EXACT []
xref: UMLS:C0236175
is_a: HP:0010702 ! Increased antibody level in blood
is_a: HP:0410241 ! Abnormal IgE level

[Term]
id: HP:0003213
name: Deficient excision of UV-induced pyrimidine dimers in DNA
xref: UMLS:C4025640
is_a: HP:0003254 ! Abnormality of DNA repair

[Term]
id: HP:0003214
name: Prolonged G2 phase of cell cycle
xref: UMLS:C4025639
is_a: HP:0011018 ! Abnormality of the cell cycle

[Term]
id: HP:0003215
name: Dicarboxylic aciduria
def: "An increased concentration of dicarboxylic acid in the urine." [HPO:gcarletti]
comment: Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine.
xref: UMLS:C1856432
is_a: HP:0001992 ! Organic aciduria

[Term]
id: HP:0003216
name: Generalized amyloid deposition
def: "A diffuse form of amyloidosis." [HPO:probinson]
comment: According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease.
xref: UMLS:C1862968
is_a: HP:0011034 ! Amyloidosis

[Term]
id: HP:0003217
name: Hyperglutaminemia
def: "An increased concentration of glutamine in the blood." [HPO:gcarletti, pmid:4696900]
comment: Normal glutamine blood levels are around 550-600 micromole per liter.
synonym: "High plasma glutamine" EXACT layperson []
xref: UMLS:C1839533
is_a: HP:0010903 ! Abnormal circulating glutamine concentration

[Term]
id: HP:0003218
name: Oroticaciduria
alt_id: HP:0000810
alt_id: HP:0010928
def: "An increased concentration of orotic acid in the urine." [HPO:gcarlotti]
comment: Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis.
synonym: "High urine orotic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased urinary orotic acid concentration" EXACT []
synonym: "Orotic aciduria" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:124277009
xref: SNOMEDCT_US:47641009
xref: UMLS:C0268128
is_a: HP:0031980 ! Abnormal urine carboxylic acid level

[Term]
id: HP:0003219
name: Ethylmalonic aciduria
def: "An increased concentration of ethylmalonic acid in the urine." [HPO:probinson]
comment: Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group.
xref: UMLS:C1865353
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0003220
name: Abnormality of chromosome stability
alt_id: HP:0002915
alt_id: HP:0008307
def: "A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration." [HPO:probinson]
xref: MSH:D019457
xref: UMLS:C0376628
xref: UMLS:C1859424
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003221
name: Chromosomal breakage induced by crosslinking agents
def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C." [HPO:sdoelken]
comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia.
synonym: "Chromosomal breakage induced by diepoxybutane" EXACT []
synonym: "Chromosomal breakage induced by mitomycin C" EXACT []
xref: UMLS:C4021737
is_a: HP:0040012 ! Chromosome breakage

[Term]
id: HP:0003223
name: Decreased methylcobalamin
alt_id: HP:0008287
def: "Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12." [HPO:probinson]
synonym: "Methylcobalamin deficiency" EXACT []
xref: UMLS:C4021736
is_a: HP:0040126 ! Abnormal vitamin B12 level

[Term]
id: HP:0003224
name: Increased cellular sensitivity to UV light
xref: UMLS:C1857707
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003225
name: Reduced coagulation factor V activity
def: "Decreased activity of coagulation factor V." [HPO:probinson]
comment: Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.
synonym: "Factor V deficiency" RELATED []
synonym: "Reduced factor V activity" EXACT []
xref: MSH:D005166
xref: SNOMEDCT_US:4320005
xref: SNOMEDCT_US:88776002
xref: UMLS:C0015499
is_a: HP:0031899 ! Abnormal coagulation factor V activity

[Term]
id: HP:0003226
name: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
def: "An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern." [HPO:probinson]
synonym: "Rectilinear profiles ultrastructurally" EXACT []
xref: UMLS:C1850447
is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material

[Term]
id: HP:0003228
name: Hypernatremia
def: "An abnormally increased sodium concentration in the blood." [HPO:probinson]
synonym: "High blood sodium levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006955
xref: SNOMEDCT_US:286926003
xref: SNOMEDCT_US:39355002
xref: UMLS:C0020488
is_a: HP:0010931 ! Abnormal blood sodium concentration

[Term]
id: HP:0003231
name: Hypertyrosinemia
def: "An increased concentration of tyrosine in the blood." [HPO:probinson]
comment: Defect in fumarylacetoacetase.
synonym: "Increased tyrosine in blood" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Tyrosinemia" EXACT []
xref: SNOMEDCT_US:56595005
xref: UMLS:C1879362
is_a: HP:0010917 ! Abnormal circulating tyrosine concentration

[Term]
id: HP:0003232
name: Mitochondrial malic enzyme reduced
synonym: "Decreased mitochondrial malic enzyme" EXACT [HPO:skoehler]
xref: UMLS:C1856697
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0003233
name: Decreased HDL cholesterol concentration
def: "An decreased concentration of high-density lipoprotein cholesterol in the blood." [HPO:gcarletti]
synonym: "Decreased circulating high-density lipoprotein cholesterol" EXACT layperson []
synonym: "Decreased circulating high-density lipoprotein levels" EXACT []
synonym: "Decreased HDL cholesterol" EXACT layperson []
synonym: "Hypoalphalipoproteinemia" EXACT []
synonym: "Low HDL-cholesterol" EXACT layperson []
xref: MSH:D052456
xref: SNOMEDCT_US:190785000
xref: UMLS:C0151691
xref: UMLS:C0473527
is_a: HP:0010981 ! Hypolipoproteinemia
is_a: HP:0031888 ! Abnormal HDL cholesterol concentration

[Term]
id: HP:0003234
name: Decreased plasma carnitine
def: "A decreased concentration of carnitine in the blood." [HPO:gcarletti]
comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria.
synonym: "Carnitine deficiency" RELATED layperson []
synonym: "Decreased plasma carnitine" EXACT layperson []
xref: SNOMEDCT_US:421784001
xref: UMLS:C1142132
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
is_a: HP:0010967 ! Abnormal circulating carnitine concentration

[Term]
id: HP:0003235
name: Hypermethioninemia
def: "An increased concentration of methionine in the blood." [HPO:gcarletti]
comment: Elevated blood methionine levels in the range of 500-2000 micromolar.
synonym: "Increased methionine in blood" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Methioninemia" EXACT []
xref: MSH:C564683
xref: SNOMEDCT_US:124283007
xref: SNOMEDCT_US:43123004
xref: SNOMEDCT_US:57835009
xref: UMLS:C0268621
is_a: HP:0010901 ! Abnormal circulating methionine concentration

[Term]
id: HP:0003236
name: Elevated serum creatine kinase
alt_id: HP:0002147
alt_id: HP:0002906
alt_id: HP:0003078
alt_id: HP:0003525
alt_id: HP:0003531
alt_id: HP:0008164
def: "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [HPO:probinson]
comment: 'has part' some \n('increased amount' and ('inheres in' some \n(IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))
synonym: "Elevated blood creatine phosphokinase" EXACT layperson []
synonym: "Elevated circulating creatine phosphokinase" EXACT layperson []
synonym: "Elevated creatine kinase" EXACT layperson []
synonym: "Elevated serum CPK" EXACT layperson []
synonym: "Elevated serum creatine kinase" EXACT layperson []
synonym: "Elevated serum creatine phosphokinase" EXACT layperson []
synonym: "High serum creatine kinase" EXACT layperson []
synonym: "Increased CPK" EXACT layperson []
synonym: "Increased creatine kinase" EXACT layperson []
synonym: "Increased creatine phosphokinase" EXACT layperson []
synonym: "Increased serum CK" EXACT layperson []
synonym: "Increased serum creatine kinase" EXACT layperson []
synonym: "Increased serum creatine phosphokinase" EXACT layperson []
xref: UMLS:C0151576
xref: UMLS:C0241005
is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration

[Term]
id: HP:0003237
name: Increased circulating IgG level
def: "An abnormally increased level of immunoglobulin G in blood." [HPO:probinson]
synonym: "Increased IgG level" EXACT []
synonym: "Increased levels of IgG" EXACT []
synonym: "Increased total IgG in blood" EXACT []
xref: UMLS:C1858977
is_a: HP:0010702 ! Increased antibody level in blood
is_a: HP:0410242 ! Abnormal IgG level

[Term]
id: HP:0003238
name: Hyperpepsinogenemia I
xref: UMLS:C4025638
is_a: HP:0010876 ! Abnormal circulating protein level

[Term]
id: HP:0003239
name: Phosphoethanolaminuria
def: "An increased concentration of phosphoethanolamine in the urine." [HPO:probinson]
synonym: "High urine phosphoethanolamine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C562646
xref: SNOMEDCT_US:55236002
xref: UMLS:C0268412
is_a: HP:0003109 ! Hyperphosphaturia

[Term]
id: HP:0003240
name: Increased phosphoribosylpyrophosphate synthetase activity
def: "Abnormally elevated activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:4200723]
synonym: "Increased phosphoribosyl pyrophosphate synthetase activity" EXACT []
synonym: "Increased PRPS1 activity" EXACT []
xref: UMLS:C4025637
is_a: HP:0032459 ! Abnormal phosphoribosylpyrophosphate synthetase activity

[Term]
id: HP:0003241
name: External genital hypoplasia
alt_id: HP:0000788
alt_id: HP:0003245
def: "Underdevelopment of part or all of the external reproductive organs." [HPO:probinson]
comment: Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism.
synonym: "Hypogenitalism" EXACT []
synonym: "Small genitalia" EXACT []
synonym: "Underdevelopment of external reproductive organs" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1855333
is_a: HP:0000811 ! Abnormal external genitalia

[Term]
id: HP:0003244
name: Penile hypospadias
def: "Location of the urethral opening on the inferior aspect of the penis." [HPO:curators]
xref: SNOMEDCT_US:204888000
xref: UMLS:C1691215
is_a: HP:0000047 ! Hypospadias

[Term]
id: HP:0003246
name: Prominent scrotal raphe
def: "Increased size of the ridge of tissue that extends along the midline of the scrotum." [HPO:probinson]
synonym: "Prominent perineal raphe" EXACT []
xref: UMLS:C1852407
is_a: HP:0000045 ! Abnormality of the scrotum

[Term]
id: HP:0003247
name: Overgrowth of external genitalia
synonym: "Overgrowth of external genitalia" EXACT layperson []
xref: UMLS:C1851722
is_a: HP:0000811 ! Abnormal external genitalia

[Term]
id: HP:0003248
name: Gonadal tissue inappropriate for external genitalia or chromosomal sex
xref: UMLS:C1860268
is_a: HP:0000062 ! Ambiguous genitalia

[Term]
id: HP:0003249
name: Genital ulcers
synonym: "Genital ulcers" EXACT layperson []
xref: UMLS:C0151281
is_a: HP:0012243 ! Abnormal reproductive system morphology

[Term]
id: HP:0003250
name: Aplasia of the vagina
alt_id: HP:0008709
def: "Aplasia of the vagina." [HPO:probinson]
synonym: "Absent vagina" EXACT layperson []
synonym: "Congenital absence of the vagina" EXACT []
xref: MSH:C536523
xref: SNOMEDCT_US:248871003
xref: SNOMEDCT_US:87380008
xref: UMLS:C0220763
xref: UMLS:C1321884
xref: UMLS:C1841990
is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina

[Term]
id: HP:0003251
name: Male infertility
synonym: "Male infertility" EXACT layperson []
xref: MSH:D007248
xref: SNOMEDCT_US:2904007
xref: UMLS:C0021364
is_a: HP:0000789 ! Infertility
is_a: HP:0012041 ! Decreased fertility in males

[Term]
id: HP:0003252
name: Anteriorly displaced genitalia
xref: UMLS:C1848653
is_a: HP:0012243 ! Abnormal reproductive system morphology

[Term]
id: HP:0003254
name: Abnormality of DNA repair
def: "An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage." [HPO:probinson]
xref: UMLS:C4021848
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003256
name: Abnormality of the coagulation cascade
alt_id: HP:0001925
def: "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators." [HPO:probinson]
synonym: "Coagulopathy" EXACT []
xref: MSH:D001778
xref: SNOMEDCT_US:362970003
xref: SNOMEDCT_US:64779008
xref: UMLS:C0005779
is_a: HP:0001928 ! Abnormality of coagulation

[Term]
id: HP:0003258
name: Glyoxalase deficiency
xref: UMLS:C3279658
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003259
name: Elevated serum creatinine
alt_id: HP:0003227
def: "An increased amount of creatinine in the blood." [HPO:gcarletti]
synonym: "Elevated creatinine" EXACT layperson []
synonym: "High blood creatinine level" EXACT layperson []
synonym: "Increased creatinine" EXACT layperson []
synonym: "Increased serum creatinine" EXACT layperson []
xref: SNOMEDCT_US:166717003
xref: UMLS:C0700225
is_a: HP:0002157 ! Azotemia
is_a: HP:0012100 ! Abnormal circulating creatinine level

[Term]
id: HP:0003260
name: Hydroxyprolinemia
def: "An increased concentration of hydroxyproline in the blood." [HPO:gcarletti]
comment: Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter.
synonym: "High blood hydroxyproline levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C562669
xref: SNOMEDCT_US:25739007
xref: UMLS:C0268531
is_a: HP:0010907 ! Abnormal circulating proline concentration

[Term]
id: HP:0003261
name: Increased circulating IgA level
alt_id: HP:0004436
alt_id: HP:0005351
alt_id: HP:0005417
def: "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson]
synonym: "Elevated IgA" EXACT []
synonym: "Elevated serum IgA" EXACT []
synonym: "IgA hypergammaglobulinemia" EXACT []
synonym: "Increased levels of IgA" EXACT []
synonym: "Increased serum IgA" EXACT []
xref: UMLS:C0239984
is_a: HP:0010702 ! Increased antibody level in blood
is_a: HP:0410240 ! Abnormal IgA level

[Term]
id: HP:0003262
name: Smooth muscle antibody positivity
def: "The presence in serum of antibodies against smooth muscle." [HPO:probinson]
comment: Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis.
synonym: "Anti-smooth muscle antibody positivity" EXACT []
synonym: "Smooth muscle antibody positive" EXACT []
xref: SNOMEDCT_US:310290006
xref: UMLS:C0241185
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003264
name: Deficiency of N-acetylglucosamine-1-phosphotransferase
comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome.
xref: MSH:D009081
xref: SNOMEDCT_US:70199000
xref: UMLS:C0020725
is_a: HP:0004356 ! Abnormality of lysosomal metabolism

[Term]
id: HP:0003265
name: Neonatal hyperbilirubinemia
alt_id: HP:0008152
def: "A type of hyperbilirubinemia with neonatal onset." [HPO:probinson]
synonym: "High blood bilirubin levels in neonate" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Hyperbilirubinemia, neonatal" EXACT []
xref: MSH:D051556
xref: SNOMEDCT_US:281610001
xref: UMLS:C0857007
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0003267
name: Reduced orotidine 5-prime phosphate decarboxylase activity
def: "An abnormal decrease in orotidine 5'-phosphate decarboxylase activity." [HPO:gcarletti]
comment: The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis.
synonym: "Orotidine-5-prime-phosphate decarboxylase defect" RELATED []
xref: UMLS:C4020845
xref: UMLS:C4025636
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003268
name: Argininuria
def: "A increased concentration of arginine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447]
comment: Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours.
synonym: "High urine arginine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025635
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003269
name: Sudanophilic leukodystrophy
xref: MSH:D020371
xref: SNOMEDCT_US:64855000
xref: UMLS:C0205711
is_a: HP:0002415 ! Leukodystrophy

[Term]
id: HP:0003270
name: Abdominal distention
alt_id: HP:0001542
alt_id: HP:0003364
def: "Distention of the abdomen." [HPO:probinson]
comment: Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction.
subset: hposlim_core
synonym: "Abdominal bloating" EXACT layperson []
synonym: "Abdominal distension" EXACT []
synonym: "Abdominal swelling" EXACT layperson []
synonym: "Belly bloating" EXACT layperson []
synonym: "Bloating" EXACT layperson []
synonym: "Distended abdomen" EXACT []
xref: SNOMEDCT_US:41931001
xref: SNOMEDCT_US:60728008
xref: UMLS:C0000731
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0003271
name: Visceromegaly
def: "Abnormal increased size of the viscera of the abdomen." [HPO:probinson]
comment: Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas.
xref: SNOMEDCT_US:28543008
xref: UMLS:C0042782
is_a: HP:0001438 ! Abnormality of abdomen morphology

[Term]
id: HP:0003272
name: Abnormality of the hip bone
def: "An abnormality of the hip bone." [HPO:probinson]
comment: The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle.
synonym: "Abnormality of the hip bone" EXACT layperson []
synonym: "Abnormality of the hips" EXACT layperson []
xref: UMLS:C4021735
is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology

[Term]
id: HP:0003273
name: Hip contracture
synonym: "Flexion contracture of hips" EXACT []
synonym: "Flexion contractures of hips" EXACT []
synonym: "Hip contractures" EXACT []
synonym: "Hip flexion contractures" EXACT []
xref: SNOMEDCT_US:202283002
xref: UMLS:C0409354
is_a: HP:0005750 ! Contractures of the joints of the lower limbs
is_a: HP:0008800 ! Limited hip movement

[Term]
id: HP:0003274
name: Hypoplastic acetabulae
def: "Underdeveloped acetabulae." [HPO:probinson]
subset: hposlim_core
synonym: "Acetabular hypoplasia" EXACT []
synonym: "Hypoplastic acetabula" EXACT []
xref: UMLS:C1846442
is_a: HP:0003170 ! Abnormality of the acetabulum

[Term]
id: HP:0003275
name: Narrow pelvis bone
def: "Reduced side to side width of the pelvis." [HPO:probinson]
subset: hposlim_core
synonym: "Narrow pelvis" BROAD layperson [HPO:skoehler]
synonym: "Narrow pelvis bone" EXACT layperson []
xref: UMLS:C1848103
is_a: HP:0040163 ! Abnormal pelvis bone morphology

[Term]
id: HP:0003276
name: Pelvic bone exostoses
def: "A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage." [HPO:probinson]
synonym: "Pelvic exostoses" BROAD [HPO:skoehler]
xref: UMLS:C1844689
is_a: HP:0040163 ! Abnormal pelvis bone morphology
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0003277
name: Constricted iliac wings
xref: UMLS:C1854785
is_a: HP:0011867 ! Abnormality of the wing of the ilium

[Term]
id: HP:0003278
name: Square pelvis bone
def: "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure." [HPO:probinson]
synonym: "Square pelvis" BROAD layperson [HPO:skoehler]
synonym: "Square pelvis bone" EXACT layperson []
synonym: "Squared off pelvis" RELATED []
xref: UMLS:C1849953
is_a: HP:0040163 ! Abnormal pelvis bone morphology

[Term]
id: HP:0003279
name: Coxa magna
def: "Widening of the femoral head and neck." [HPO:probinson]
comment: Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others.
xref: MSH:D000070603
xref: SNOMEDCT_US:296041000119103
xref: UMLS:C1860826
is_a: HP:0003272 ! Abnormality of the hip bone

[Term]
id: HP:0003281
name: Increased serum ferritin
def: "Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson]
comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.
synonym: "Elevated serum ferritin" EXACT layperson []
synonym: "High ferritin level" EXACT layperson []
synonym: "Hyperferritinaemia" EXACT []
synonym: "Hyperferritinemia" EXACT []
synonym: "Increased ferritin" EXACT layperson []
synonym: "Increased plasma ferritin" EXACT []
synonym: "Increased serum ferritin level" EXACT layperson []
xref: UMLS:C0241013
xref: UMLS:C0743912
xref: UMLS:C3854388
is_a: HP:0040133 ! Abnormal serum ferritin

[Term]
id: HP:0003282
name: Low alkaline phosphatase
def: "Abnormally reduced serum levels of alkaline phosphatase activity." [HPO:probinson]
synonym: "Decreased serum alkaline phosphatase" EXACT layperson []
synonym: "Low ALP" EXACT HP:0045077 []
xref: UMLS:C1860130
is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity

[Term]
id: HP:0003286
name: Cystathioninemia
def: "An increased concentration of cystathionine in the blood." [HPO:gcarletti, pmid:16902722]
comment: Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma.
synonym: "High blood cystathionine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:6669004
xref: UMLS:C0268618
is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration

[Term]
id: HP:0003287
name: Abnormality of mitochondrial metabolism
def: "A functional anomaly of mitochondria." [ORCID:0000-0001-5208-3432]
synonym: "Mitochondrial dysfunction" EXACT []
xref: UMLS:C4021734
is_a: HP:0012103 ! Abnormality of the mitochondrion

[Term]
id: HP:0003288
name: Mitochondrial propionyl-CoA carboxylase defect
synonym: "Mitochondrial PCC defect" EXACT []
xref: UMLS:C4025634
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0003292
name: Decreased serum leptin
def: "A decreased concentration of leptin in the blood." [HPO:probinson, pmid:16932309]
comment: Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis.
synonym: "Decreased serum leptin" EXACT layperson []
synonym: "Reduced circulating leptin level" EXACT []
xref: UMLS:C1837802
is_a: HP:0004361 ! Abnormality of circulating leptin level

[Term]
id: HP:0003295
name: obsolete Impaired FSH and LH secretion
is_obsolete: true
consider: HP:0030339

[Term]
id: HP:0003296
name: Hyperthreoninuria
def: "An increased concentration of threonine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447]
comment: Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours.
synonym: "High urine threonine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2673931
is_a: HP:0008353 ! Neutral hyperaminoaciduria

[Term]
id: HP:0003297
name: Hyperlysinuria
alt_id: HP:0002158
def: "An increased concentration of lysine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447]
comment: Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours.
synonym: "High urine lysine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Lysinuria" EXACT []
xref: UMLS:C4021733
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003298
name: Spina bifida occulta
def: "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin." [HPO:probinson]
comment: May be asymptomatic.
subset: hposlim_core
xref: MSH:D016136
xref: SNOMEDCT_US:76916001
xref: UMLS:C0080174
is_a: HP:0002414 ! Spina bifida

[Term]
id: HP:0003300
name: Ovoid vertebral bodies
alt_id: HP:0004559
def: "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval." [HPO:probinson]
synonym: "Bullet vertebral body" RELATED []
synonym: "Oval vertebral bodies" EXACT []
synonym: "Ovoid vertebrae" EXACT []
synonym: "Ovoid-shaped vertebral bodies" EXACT []
xref: UMLS:C1855665
xref: UMLS:C4020844
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0003301
name: Irregular vertebral endplates
alt_id: HP:0003420
alt_id: HP:0004583
alt_id: HP:0004628
def: "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:probinson]
subset: hposlim_core
synonym: "end-plate irregularities" EXACT []
synonym: "endplate irregularities" EXACT []
synonym: "endplate irregularity" EXACT []
synonym: "Irregular end plates" EXACT []
synonym: "Irregular endplates" EXACT []
synonym: "irregular vertebral plates" EXACT []
synonym: "vertebral endplate irregularity" EXACT []
xref: UMLS:C1842153
is_a: HP:0005106 ! Abnormality of the vertebral endplates

[Term]
id: HP:0003302
name: Spondylolisthesis
def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [HPO:probinson, pmid:20411054]
synonym: "Displacement of one backbone compared to another" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Slipped backbone" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Spondylolithesis" EXACT []
xref: MSH:D013168
xref: SNOMEDCT_US:274152003
xref: UMLS:C0038016
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003304
name: Spondylolysis
def: "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma." [HPO:probinson, pmid:20440613]
comment: The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis.
subset: hposlim_core
xref: MSH:D013169
xref: SNOMEDCT_US:240221008
xref: UMLS:C0038018
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003305
name: Block vertebrae
def: "Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies)." [HPO:probinson]
xref: UMLS:C1844753
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0003306
name: Spinal rigidity
def: "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion." [HPO:probinson, pmid:11601420, pmid:2246660]
synonym: "Reduced spine movement" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Rigid spine" EXACT []
xref: UMLS:C1858025
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003307
name: Hyperlordosis
alt_id: HP:0002939
def: "Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine." [HPO:probinson]
subset: hposlim_core
synonym: "Lordosis" EXACT []
synonym: "Prominent swayback" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D008141
xref: SNOMEDCT_US:249710008
xref: SNOMEDCT_US:61960001
xref: UMLS:C0024003
is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column

[Term]
id: HP:0003308
name: Cervical subluxation
def: "A partial dislocation of one or more intervertebral joints in the cervical vertebral column." [HPO:probinson]
xref: UMLS:C1846798
is_a: HP:0003319 ! Abnormality of the cervical spine
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0003309
name: Ovoid thoracolumbar vertebrae
synonym: "Ovoid thoracic and lumbar vertebrae" EXACT []
xref: UMLS:C1868556
is_a: HP:0003300 ! Ovoid vertebral bodies

[Term]
id: HP:0003310
name: Abnormality of the odontoid process
alt_id: HP:0004600
def: "Abnormality of the dens of the axis, which is also known as the odontoid process." [HPO:probinson]
comment: The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates.
synonym: "Abnormal odontoid peg" EXACT []
synonym: "Abnormal odontoid process" EXACT []
xref: UMLS:C1864794
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003311
name: Hypoplasia of the odontoid process
alt_id: HP:0003299
alt_id: HP:0004613
alt_id: HP:0008481
def: "Developmental hypoplasia of the dens of the axis." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic odontoid process" EXACT []
synonym: "Odontoid hypoplasia" EXACT []
synonym: "Small odontoid peg" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Small odontoid process" EXACT []
xref: UMLS:C1846439
is_a: HP:0003310 ! Abnormality of the odontoid process
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column

[Term]
id: HP:0003312
name: Abnormal form of the vertebral bodies
def: "Abnormal morphology of vertebral body." []
synonym: "Abnormally shaped vertebrae" EXACT []
xref: UMLS:C1839326
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0003316
name: Butterfly vertebrae
def: "In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra." [HPO:probinson, pmid:3693103]
synonym: "Butterfly vertebrae" EXACT layperson []
xref: UMLS:C1844752
is_a: HP:0008428 ! Vertebral clefting

[Term]
id: HP:0003318
name: Cervical spine hypermobility
xref: SNOMEDCT_US:298186005
xref: UMLS:C0574967
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0003319
name: Abnormality of the cervical spine
alt_id: HP:0004587
def: "Any abnormality of the cervical vertebral column." [HPO:probinson]
synonym: "Abnormal cervical spine" EXACT layperson []
synonym: "Abnormality of cervical vertebra" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the cervical vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Cervical spine abnormalities" EXACT []
synonym: "Cervical vertebral abnormalities" EXACT []
synonym: "Cervical vertebral anomalies" RELATED [HPO:skoehler]
synonym: "Disorder of cervical vertebra" EXACT []
xref: UMLS:C1852464
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003320
name: C1-C2 subluxation
def: "A partial dislocation of the atlantoaxial joints." [HPO:curators]
comment: A subluxation affecting the intervertebral joint between the first and second cervical vertebrae.
xref: UMLS:C1848446
is_a: HP:0003308 ! Cervical subluxation
is_a: HP:0008440 ! C1-C2 vertebral abnormality

[Term]
id: HP:0003321
name: Biconcave flattened vertebrae
alt_id: HP:0005782
xref: UMLS:C1833753
is_a: HP:0000926 ! Platyspondyly
is_a: HP:0004586 ! Biconcave vertebral bodies

[Term]
id: HP:0003323
name: Progressive muscle weakness
alt_id: HP:0009032
synonym: "Muscle weakness, progressive" EXACT []
synonym: "Progressive muscular weakness" EXACT []
xref: UMLS:C0240421
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003324
name: Generalized muscle weakness
alt_id: HP:0003686
alt_id: HP:0003723
def: "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [HPO:probinson]
synonym: "Generalized weakness" EXACT []
synonym: "Muscle weakness, diffuse" EXACT []
synonym: "Muscle weakness, generalized" EXACT []
xref: UMLS:C0746674
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003325
name: Limb-girdle muscle weakness
alt_id: HP:0008971
def: "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators]
synonym: "Limb girdle weakness" EXACT []
synonym: "Muscle weakness, limb-girdle" EXACT []
synonym: "Muscular weakness, limb-girdle" EXACT []
xref: UMLS:C1858127
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0003326
name: Myalgia
alt_id: HP:0003718
def: "Pain in muscle." [HPO:probinson]
synonym: "Muscle ache" EXACT layperson [ORCID:0000-0002-0736-9199]
synonym: "Muscle pain" EXACT layperson [ORCID:0000-0002-0736-9199]
synonym: "Myalgias" RELATED HP:0045078 [HPO:skoehler]
xref: MSH:D063806
xref: SNOMEDCT_US:68962001
xref: UMLS:C0231528
is_a: HP:0012531 ! Pain

[Term]
id: HP:0003327
name: Axial muscle weakness
def: "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [HPO:curators]
xref: UMLS:C1843697
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0040286 ! Abnormality of axial muscles

[Term]
id: HP:0003328
name: Abnormal hair laboratory examination
xref: UMLS:C4025632
is_a: HP:0001595 ! Abnormal hair morphology

[Term]
id: HP:0003329
name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
xref: UMLS:C4025631
is_a: HP:0003328 ! Abnormal hair laboratory examination

[Term]
id: HP:0003330
name: Abnormal bone structure
def: "Any anomaly in the composite material or the layered arrangement of the bony skeleton." [HPO:probinson]
xref: UMLS:C4025630
is_a: HP:0011842 ! Abnormality of skeletal morphology

[Term]
id: HP:0003332
name: Absent primary metaphyseal spongiosa
xref: UMLS:C3277126
is_a: HP:0005089 ! Abnormal metaphyseal trabeculation

[Term]
id: HP:0003333
name: Increased serum beta-hexosaminidase
alt_id: HP:0008299
comment: This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside.
xref: UMLS:C2673361
is_a: HP:0010876 ! Abnormal circulating protein level

[Term]
id: HP:0003334
name: Elevated circulating catecholamine level
def: "An abnormal increase in catecholamine concentration in the blood." [HPO:probinson]
comment: Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma.
xref: UMLS:C4025629
is_a: HP:0012099 ! Abnormality of circulating catecholamine level

[Term]
id: HP:0003335
name: obsolete Low gonadotropins (secondary hypogonadism)
is_obsolete: true
replaced_by: HP:0000044

[Term]
id: HP:0003336
name: Abnormal enchondral ossification
alt_id: HP:0003331
def: "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage." [HPO:probinson]
comment: This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy.
xref: UMLS:C4025628
is_a: HP:0011849 ! Abnormal bone ossification

[Term]
id: HP:0003337
name: Reduced prothrombin consumption
alt_id: HP:0008172
def: "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia." [HPO:probinson]
synonym: "Poor prothrombin consumption" EXACT []
xref: UMLS:C4021732
is_a: HP:0012200 ! Abnormality of prothrombin

[Term]
id: HP:0003338
name: Focal necrosis of right ventricular muscle cells
xref: UMLS:C4025627
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0003339
name: Pyrimidine-responsive megaloblastic anemia
def: "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid." [HPO:probinson]
synonym: "Anemia corrected by uridylic acid and cytidylic acid" EXACT []
xref: UMLS:C4021731
is_a: HP:0001889 ! Megaloblastic anemia

[Term]
id: HP:0003340
name: obsolete Abnormal dermatological laboratory findings
is_obsolete: true
consider: HP:0000951

[Term]
id: HP:0003341
name: Junctional split
def: "The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin." [HPO:probinson]
synonym: "Subepidermal blistering with cleavage in the lamina lucida" EXACT []
xref: UMLS:C4021730
is_a: HP:0008066 ! Abnormal blistering of the skin

[Term]
id: HP:0003343
name: Reduced glutathione synthetase activity
def: "Reduced activity of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline." [PMID:17397529]
synonym: "Glutathione synthetase deficiency" EXACT []
xref: MSH:C536835
xref: SNOMEDCT_US:124706000
xref: SNOMEDCT_US:234589002
xref: SNOMEDCT_US:39112005
xref: UMLS:C0398746
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003344
name: 3-Methylglutaric aciduria
synonym: "3-Methylglutaconicaciduria" EXACT []
synonym: "3-methylglutaricaciduria" EXACT []
xref: UMLS:C3151952
is_a: HP:0003535 ! 3-Methylglutaconic aciduria

[Term]
id: HP:0003345
name: Elevated urinary norepinephrine
def: "An increased concentration of noradrenaline in the urine." [HPO:probinson]
xref: UMLS:C4025626
is_a: HP:0011976 ! Elevated urinary catecholamines

[Term]
id: HP:0003347
name: Impaired lymphocyte transformation with phytohemagglutinin
def: "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes." [HPO:probinson]
comment: The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis.
xref: UMLS:C4025625
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0003348
name: Hyperalaninemia
def: "An increased concentration of alanine in the blood." [HPO:gcarletti, pmid:16902722, pmid:4696900]
comment: This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter.
synonym: "Increased blood alanine" EXACT layperson []
synonym: "Increased serum alanine" EXACT layperson []
xref: MSH:C562684
xref: SNOMEDCT_US:2359002
xref: UMLS:C0268630
xref: UMLS:C1839424
xref: UMLS:C1849489
is_a: HP:0010916 ! Abnormal circulating alanine concentration

[Term]
id: HP:0003349
name: Low cholesterol esterification rate
def: "A reduction in the rate of cholesterol esterification." [HPO:probinson, PMID:3378364]
comment: Cholesterol esterification convers free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source.
xref: UMLS:C1843371
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003351
name: Decreased circulating renin level
alt_id: HP:0003263
def: "An decreased level of renin (PRO:000013883) in the blood." [HPO:probinson]
synonym: "Decreased plasma renin activity" EXACT []
synonym: "Low plasma renin activity" EXACT []
synonym: "Suppressed plasma renin activity" EXACT []
xref: UMLS:C1845206
is_a: HP:0040084 ! Abnormal circulating renin

[Term]
id: HP:0003352
name: Endopolyploidy on chromosome studies of bone marrow
def: "An increase in the number of chromosome sets per cell in bone marrow cells." [HPO:probinson]
comment: Endopolyploidy is caused by replication without cell division.
xref: UMLS:C4025624
is_a: HP:0002916 ! Abnormality of chromosome segregation

[Term]
id: HP:0003353
name: Propionyl-CoA carboxylase deficiency
def: "An abnormality of amino acid metabolism characterized by a decreased rate of propionyl-CoA carboxylase activity." [HPO:probinson]
comment: Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids.
xref: MSH:D056693
xref: SNOMEDCT_US:124718009
xref: SNOMEDCT_US:69080001
xref: UMLS:C0268579
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003354
name: Hyperthreoninemia
def: "An increased concentration of threonine in the blood." [HPO:probinson]
synonym: "Elevated circulating threonine" EXACT []
synonym: "High blood threonine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1848861
is_a: HP:0010900 ! Abnormal circulating threonine concentration

[Term]
id: HP:0003355
name: Aminoaciduria
alt_id: HP:0002903
alt_id: HP:0200014
def: "An increased concentration of an amino acid in the urine." [HPO:SKOEHLER]
synonym: "Abnormal urinary amino-acid findings" RELATED layperson []
synonym: "High urine amino acid levels" EXACT layperson [orcid.org/0000-0001-5208-3432]
synonym: "Hyperaminoaciduria" EXACT []
synonym: "Increased levels of animo acids in urine" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:35912001
xref: UMLS:C0238621
xref: UMLS:C4020843
is_a: HP:0012072 ! Aciduria

[Term]
id: HP:0003357
name: Thymic hormone decreased
def: "A reduction in the level of thymic horomone." [PMID:7058086]
synonym: "Decreased thymic hormone" EXACT []
xref: UMLS:C1857652
is_a: HP:0000777 ! Abnormality of the thymus

[Term]
id: HP:0003358
name: Elevated intracellular cystine
def: "An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells." [HPO:probinson]
comment: Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond.
xref: UMLS:C4025623
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003359
name: Decreased urinary sulfate
def: "Decreased concentration of sulfate in the urine." [HPO:probinson]
synonym: "Decreased urinary sulfate" EXACT layperson []
xref: UMLS:C1848958
is_a: HP:0012612 ! Abnormal urinary sulfate concentration

[Term]
id: HP:0003361
name: Tryptophanuria
def: "An increased concentration of tryptophan in the urine." [HPO:gcarletti, pmid:18901181]
comment: Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours.
synonym: "High urine tryptophan levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:18789002
xref: UMLS:C0268472
is_a: HP:0008353 ! Neutral hyperaminoaciduria

[Term]
id: HP:0003362
name: Increased VLDL cholesterol concentration
def: "An increase in the amount of very-low-density lipoprotein cholesterol in the blood." [HPO:gcarletti]
synonym: "Increased circulating very-low-density lipoprotein cholesterol" EXACT []
synonym: "Increased circulating very-low-density lipoprotein levels" EXACT []
synonym: "Increased plasma VLDL cholesterol" EXACT HP:0045077 []
xref: UMLS:C4021729
is_a: HP:0010980 ! Hyperlipoproteinemia
is_a: HP:0031889 ! Abnormal VLDL cholesterol concentration

[Term]
id: HP:0003363
name: Abdominal situs inversus
def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen." [HPO:probinson]
synonym: "Situs inversus visceralis" EXACT []
synonym: "Situs inversus viscerum" EXACT []
xref: Fyler:3816
xref: MSH:D012857
xref: SNOMEDCT_US:27317008
xref: SNOMEDCT_US:43876007
xref: UMLS:C0037221
is_a: HP:0011620 ! Abnormality of abdominal situs

[Term]
id: HP:0003365
name: Arthralgia of the hip
def: "Joint pain affecting the hip." [HPO:probinson]
synonym: "Coxalgia" EXACT []
synonym: "Hip arthralgia" EXACT []
synonym: "Hip joint pain" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:49218002
xref: UMLS:C0019559
is_a: HP:0003272 ! Abnormality of the hip bone

[Term]
id: HP:0003366
name: Abnormality of the femoral neck or head region
synonym: "Abnormal neck or head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025622
is_a: HP:0002823 ! Abnormality of femur morphology

[Term]
id: HP:0003367
name: Abnormality of the femoral neck
def: "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson]
synonym: "Abnormal neck of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025621
is_a: HP:0003366 ! Abnormality of the femoral neck or head region

[Term]
id: HP:0003368
name: Abnormality of the femoral head
def: "An abnormality of the femoral head." [HPO:probinson]
synonym: "Abnormal head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025620
is_a: HP:0003366 ! Abnormality of the femoral neck or head region

[Term]
id: HP:0003370
name: Flat capital femoral epiphysis
alt_id: HP:0006393
def: "An abnormal flattening of the proximal epiphysis of the femur." [HPO:probinson]
synonym: "Flat capital femoral epiphyses" EXACT []
synonym: "Flat end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Flat femoral capital epiphyses" EXACT []
synonym: "Flat proximal femoral epiphyses" EXACT []
synonym: "Flattened proximal femoral epiphyses" EXACT []
xref: UMLS:C1842155
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0030289 ! Flattened femoral epiphysis

[Term]
id: HP:0003371
name: Enlargement of the proximal femoral epiphysis
def: "An abnormal enlargement of the proximal epiphysis of the femur." [HPO:probinson]
synonym: "Enlarged capital femoral epiphyses" EXACT []
synonym: "Enlarged end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859697
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0003375
name: Narrow greater sacrosciatic notches
alt_id: HP:0008805
alt_id: HP:0008813
alt_id: HP:0008840
alt_id: HP:0008842
def: "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators]
synonym: "Narrow sacrosciatic notch" EXACT []
synonym: "Narrow sciatic notches" EXACT []
synonym: "Narrowed greater sciatic notch" EXACT []
synonym: "Narrowed sacrosciatic notch" EXACT []
synonym: "Small sacrosciatic notch" EXACT []
synonym: "Small sacrosciatic notches" EXACT []
xref: SNOMEDCT_US:289457006
xref: UMLS:C0566888
is_a: HP:0010456 ! Abnormality of the greater sacrosciatic notch

[Term]
id: HP:0003376
name: Steppage gait
def: "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:probinson, PMID:27770207]
synonym: "'steppage' gait" EXACT []
synonym: "High stepping" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020233
xref: SNOMEDCT_US:27253007
xref: UMLS:C0427149
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0003378
name: Axonal degeneration/regeneration
def: "A pattern of simultaneous degeneration and regeneration of axons (see comment)." [HPO:probinson]
comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment.
synonym: "Axon degeneration and regeneration" EXACT []
xref: UMLS:C1968790
is_a: HP:0000764 ! Peripheral axonal degeneration

[Term]
id: HP:0003380
name: Decreased number of peripheral myelinated nerve fibers
alt_id: HP:0003385
alt_id: HP:0003386
alt_id: HP:0007093
alt_id: HP:0007135
alt_id: HP:0007177
alt_id: HP:0007320
alt_id: HP:0007322
def: "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy)." [HPO:probinson]
comment: This finding can be demonstrated by nerve biopsy.
synonym: "Decreased number of large and small myelinated fibers" EXACT []
synonym: "Loss of myelinated fibers" EXACT []
xref: UMLS:C1858285
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0003382
name: Hypertrophic nerve changes
xref: UMLS:C1832776
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003383
name: Onion bulb formation
alt_id: HP:0003389
alt_id: HP:0007013
alt_id: HP:0007022
alt_id: HP:0007084
alt_id: HP:0008276
def: "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves." [HPO:probinson]
comment: This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve.
synonym: "'Onion bulb' formations" EXACT []
synonym: "Onion bulb formations" RELATED [HPO:skoehler]
xref: UMLS:C1847906
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0003384
name: Peripheral axonal atrophy
def: "Atrophic changes of axons of the peripheral nervous system." [HPO:probinson]
comment: This finding is typically demonstrated by nerve biopsy.
xref: UMLS:C4025619
is_a: HP:0000764 ! Peripheral axonal degeneration

[Term]
id: HP:0003387
name: Decreased number of large peripheral myelinated nerve fibers
alt_id: HP:0006868
alt_id: HP:0007031
alt_id: HP:0007315
def: "A reduced number of large myelinated nerve fibers." [HPO:probinson]
comment: This finding can be demonstrated by nerve biopsy.
synonym: "Depletion of large myelinated fibers" EXACT []
synonym: "Loss of large myelinated fibers" EXACT []
synonym: "Loss of larger myelinated nerve fibers" EXACT []
xref: UMLS:C1859606
is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers

[Term]
id: HP:0003388
name: Easy fatigability
def: "Increased susceptibility to fatigue." [HPO:probinson]
comment: Fatigue describes the inability to continue performing a task after multiple repetitions.
synonym: "Tired easily" BROAD layperson [https://orcid.org/0000-0002-6548-5200, ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:248268002
xref: UMLS:C0424585
xref: UMLS:C1837098
is_a: HP:0004302 ! Functional motor deficit
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0003390
name: Sensory axonal neuropathy
alt_id: HP:0006883
alt_id: HP:0007248
alt_id: HP:0007345
def: "An axonal neuropathy of peripheral sensory nerves." [HPO:curators]
synonym: "Axonal sensory neuropathy" EXACT []
synonym: "Peripheral sensory axonal neuropathy" RELATED []
xref: UMLS:C1842587
xref: UMLS:C1970883
is_a: HP:0000763 ! Sensory neuropathy
is_a: HP:0003477 ! Peripheral axonal neuropathy

[Term]
id: HP:0003391
name: Gowers sign
def: "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson]
synonym: "Gower sign" EXACT []
synonym: "Positive Gower sign" EXACT []
synonym: "Positive Gowers sign" EXACT []
xref: SNOMEDCT_US:298294005
xref: SNOMEDCT_US:85905009
xref: UMLS:C0234182
xref: UMLS:C0575071
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0003392
name: First dorsal interossei muscle weakness
xref: UMLS:C1832277
is_a: HP:0002460 ! Distal muscle weakness

[Term]
id: HP:0003393
name: Thenar muscle atrophy
def: "Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb." []
xref: UMLS:C1864715
is_a: HP:0009130 ! Hand muscle atrophy

[Term]
id: HP:0003394
name: Muscle spasm
alt_id: HP:0009018
alt_id: HP:0031988
def: "Sudden and involuntary contractions of one or more muscles." [HPO:probinson]
synonym: "Muscle cramps" EXACT HP:0045078 []
xref: MSH:D009120
xref: SNOMEDCT_US:55300003
xref: UMLS:C0026821
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003396
name: Syringomyelia
alt_id: HP:0006933
def: "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord." [HPO:sdoelken]
synonym: "Fluid-filled cyst in spinal cord" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Syrinx" EXACT []
xref: MSH:D013595
xref: SNOMEDCT_US:111496009
xref: UMLS:C0039144
is_a: HP:0100561 ! Spinal cord lesion

[Term]
id: HP:0003397
name: Generalized hypotonia due to defect at the neuromuscular junction
xref: UMLS:C1853950
is_a: HP:0001290 ! Generalized hypotonia
is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction

[Term]
id: HP:0003398
name: Abnormal synaptic transmission at the neuromuscular junction
def: "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers." [HPO:probinson]
synonym: "Abnormality of neuromuscular transmission" RELATED []
xref: UMLS:C4020842
xref: UMLS:C4025618
is_a: HP:0030191 ! Abnormal peripheral nervous system synaptic transmission

[Term]
id: HP:0003400
name: Basal lamina onion bulb formation
def: "A type of onion bulb formation prominently affecting the area of the basal lamina." [HPO:probinson]
synonym: "Basal lamina 'onion bulb' formations on nerve biopsy" EXACT []
xref: UMLS:C1866637
is_a: HP:0003383 ! Onion bulb formation

[Term]
id: HP:0003401
name: Paresthesia
alt_id: HP:0002082
def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:probinson]
synonym: "Paresthesias" EXACT []
synonym: "Pins and needles feeling" EXACT layperson []
synonym: "Tingling" EXACT layperson []
xref: MSH:D010292
xref: SNOMEDCT_US:91019004
xref: UMLS:C0030554
is_a: HP:0000763 ! Sensory neuropathy

[Term]
id: HP:0003402
name: Decreased miniature endplate potentials
def: "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [HPO:probinson]
comment: Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft.
synonym: "Decreased MEPP" EXACT []
synonym: "Small miniature endplate currents" EXACT []
synonym: "Small miniature endplate potentials" EXACT []
xref: UMLS:C1853952
is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction

[Term]
id: HP:0003403
name: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
alt_id: HP:0003430
alt_id: HP:0003478
def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation." [HPO:probinson]
comment: The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP.
synonym: "EMG: decrement at repetitive stimulation" RELATED []
synonym: "EMG: decremental response of CMAP to repetitive nerve stimulation" EXACT []
xref: UMLS:C4020841
xref: UMLS:C4021728
is_a: HP:0100285 ! EMG: impaired neuromuscular transmission

[Term]
id: HP:0003405
name: Diffuse axonal swelling
xref: UMLS:C1865417
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003406
name: Peripheral nerve compression
xref: UMLS:C1851414
is_a: HP:0045010 ! Abnormality of peripheral nerves

[Term]
id: HP:0003409
name: Distal sensory impairment of all modalities
synonym: "Distal sensory loss to all modalities" EXACT []
xref: UMLS:C1836527
is_a: HP:0000763 ! Sensory neuropathy

[Term]
id: HP:0003411
name: Proximal femoral metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the proximal metaphysis of the femur." []
synonym: "Irregular proximal femoral metaphyses" EXACT []
xref: UMLS:C1836320
is_a: HP:0003366 ! Abnormality of the femoral neck or head region
is_a: HP:0006431 ! Proximal femoral metaphyseal abnormality
is_a: HP:0030291 ! Lower-limb metaphyseal irregularity

[Term]
id: HP:0003413
name: Atlantoaxial abnormality
def: "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae." [HPO:probinson]
xref: UMLS:C4025617
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003414
name: Atlantoaxial dislocation
def: "Partial dislocation of the atlantoaxial joint." [HPO:curators]
synonym: "Atlanto-axial subluxation" EXACT []
synonym: "Atlantoaxial subluxation" EXACT []
xref: SNOMEDCT_US:263042007
xref: SNOMEDCT_US:45179004
xref: UMLS:C0263905
is_a: HP:0003413 ! Atlantoaxial abnormality

[Term]
id: HP:0003416
name: Spinal canal stenosis
alt_id: HP:0008446
def: "An abnormal narrowing of the spinal canal." [HPO:probinson]
comment: Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column.
subset: hposlim_core
synonym: "Narrow spinal canal" EXACT layperson []
synonym: "Spinal stenosis" EXACT []
xref: UMLS:C1861329
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003417
name: Coronal cleft vertebrae
alt_id: HP:0003673
def: "Frontal schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson]
comment: Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed.
synonym: "coronal cleft of vertebrae" EXACT []
synonym: "Coronal clefts" EXACT []
synonym: "Coronal vertebral clefts" EXACT []
synonym: "Vertebral coronal clefts" EXACT []
xref: UMLS:C1834954
is_a: HP:0008428 ! Vertebral clefting

[Term]
id: HP:0003418
name: Back pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back." []
synonym: "Back pain" EXACT layperson []
xref: MSH:D001416
xref: SNOMEDCT_US:161891005
xref: UMLS:C0004604
is_a: HP:0000925 ! Abnormality of the vertebral column
is_a: HP:0012531 ! Pain

[Term]
id: HP:0003419
name: Low back pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back." []
synonym: "Lower back pain" EXACT []
xref: MSH:D017116
xref: SNOMEDCT_US:279039007
xref: UMLS:C0024031
is_a: HP:0003418 ! Back pain

[Term]
id: HP:0003421
name: obsolete Platyspondyly (childhood)
is_obsolete: true
replaced_by: HP:0000926

[Term]
id: HP:0003422
name: Vertebral segmentation defect
alt_id: HP:0005705
def: "An abnormality related to a defect of vertebral separation during development." [HPO:probinson, pmid:23653580, pmid:23801490]
comment: The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterlfy vertebrae.
subset: hposlim_core
synonym: "Abnormal spinal segmentation" EXACT []
xref: SNOMEDCT_US:205455005
xref: UMLS:C0432163
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0003423
name: Thoracolumbar kyphoscoliosis
synonym: "Dorsolumbar kyphosis" EXACT []
xref: UMLS:C1859335
is_a: HP:0002751 ! Kyphoscoliosis
is_a: HP:0002944 ! Thoracolumbar scoliosis
is_a: HP:0005619 ! Thoracolumbar kyphosis

[Term]
id: HP:0003426
name: First dorsal interossei muscle atrophy
xref: UMLS:C1832278
is_a: HP:0007181 ! Interosseus muscle atrophy

[Term]
id: HP:0003427
name: Thenar muscle weakness
xref: UMLS:C1832276
is_a: HP:0030237 ! Hand muscle weakness

[Term]
id: HP:0003429
name: CNS hypomyelination
def: "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis." [HPO:probinson]
synonym: "hypomyelination" RELATED []
xref: SNOMEDCT_US:111007000
xref: UMLS:C0544820
xref: UMLS:C4025616
is_a: HP:0011400 ! Abnormal CNS myelination

[Term]
id: HP:0003431
name: Decreased motor nerve conduction velocity
alt_id: HP:0000760
alt_id: HP:0003379
alt_id: HP:0003395
alt_id: HP:0003437
alt_id: HP:0006907
alt_id: HP:0008170
def: "A type of decreased nerve conduction velocity that affects the motor neuron." [HPO:probinson]
comment: Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers.
synonym: "Decreased motor NCV" EXACT []
synonym: "Decreased motor nerve conduction velocities" EXACT []
synonym: "Reduced motor nerve conduction velocity" EXACT []
xref: UMLS:C1858729
is_a: HP:0000762 ! Decreased nerve conduction velocity
is_a: HP:0040131 ! Abnormal motor nerve conduction velocity

[Term]
id: HP:0003434
name: Sensory ataxic neuropathy
xref: UMLS:C1843859
is_a: HP:0000763 ! Sensory neuropathy

[Term]
id: HP:0003435
name: Cold-induced hand cramps
xref: UMLS:C1832279
is_a: HP:0003449 ! Cold-induced muscle cramps

[Term]
id: HP:0003436
name: Prolonged miniature endplate currents
alt_id: HP:0003479
def: "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [HPO:probinson]
synonym: "Prolonged MEPC" EXACT []
synonym: "Prolonged MEPP" EXACT []
synonym: "Prolonged miniature endplate potentials" EXACT []
xref: UMLS:C1864238
is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction

[Term]
id: HP:0003438
name: Absent Achilles reflex
alt_id: HP:0007032
alt_id: HP:0007241
def: "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [HPO:probinson]
synonym: "Absent ankle reflexes" EXACT layperson []
xref: MSH:D012021
xref: SNOMEDCT_US:274818004
xref: UMLS:C0558845
is_a: HP:0200101 ! Decreased/absent ankle reflexes

[Term]
id: HP:0003440
name: Horizontal sacrum
subset: hposlim_core
xref: UMLS:C1850558
is_a: HP:0005107 ! Abnormal sacrum morphology

[Term]
id: HP:0003443
name: Decreased size of nerve terminals
def: "A reduction in the size of nerve terminals." [HPO:probinson]
comment: Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy.
xref: UMLS:C4025615
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology

[Term]
id: HP:0003444
name: EMG: chronic denervation signs
alt_id: HP:0007059
def: "Evidence of chronic denervation on electromyography." [HPO:probinson]
comment: This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed.
xref: UMLS:C4025614
is_a: HP:0003445 ! EMG: neuropathic changes

[Term]
id: HP:0003445
name: EMG: neuropathic changes
alt_id: HP:0002178
alt_id: HP:0002547
alt_id: HP:0007279
def: "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)." [HPO:probinson]
comment: This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience.
synonym: "EMG: neurogenic abnormalities" EXACT []
synonym: "EMG: neurogenic changes" EXACT []
synonym: "EMG: neurogenic findings" EXACT []
xref: UMLS:C4021727
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0003447
name: Axonal loss
alt_id: HP:0003360
def: "A reduction in the number of axons in the peripheral nervous system." [DDD:probinson]
comment: This finding can be observed upon nerve biopsy.
xref: UMLS:C1832338
is_a: HP:0000764 ! Peripheral axonal degeneration

[Term]
id: HP:0003448
name: Decreased sensory nerve conduction velocity
alt_id: HP:0006914
def: "Reduced speed of conduction of the action potential along a sensory nerve." [HPO:probinson]
comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse.
synonym: "Decreased sensory NCV" EXACT []
synonym: "Decreased sensory nerve conduction velocities" EXACT []
xref: UMLS:C1849148
is_a: HP:0000762 ! Decreased nerve conduction velocity
is_a: HP:0040132 ! Abnormal sensory nerve conduction velocity

[Term]
id: HP:0003449
name: Cold-induced muscle cramps
def: "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures." [HPO:probinson]
xref: UMLS:C1861675
is_a: HP:0003394 ! Muscle spasm

[Term]
id: HP:0003450
name: Axonal regeneration
def: "The presence of axonal regeneration following a previous axonal lesion." [HPO:probinson]
comment: This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information.
synonym: "Regenerative activity on nerve biopsy" EXACT []
xref: UMLS:C1854454
is_a: HP:0000764 ! Peripheral axonal degeneration

[Term]
id: HP:0003451
name: Increased rate of premature chromosome condensation
def: "An increased rate of premature chromosome condensation." [HPO:probinson]
xref: UMLS:C4025613
is_a: HP:0011019 ! Abnormality of chromosome condensation

[Term]
id: HP:0003452
name: Increased serum iron
xref: SNOMEDCT_US:165624002
xref: UMLS:C0151900
is_a: HP:0040130 ! Abnormal serum iron concentration

[Term]
id: HP:0003453
name: Antineutrophil antibody positivity
def: "The presence of autoantibodies in the serum that react against neutrophils." [HPO:probinson]
comment: Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive.
synonym: "Antineutrophil antibodies" EXACT []
synonym: "Neutrophil antibody positive" EXACT []
xref: UMLS:C1858981
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003454
name: Platelet antibody positive
def: "The presence in the serum of autoantibodies directed against thrombocytes." [HPO:probinson]
synonym: "Platelet antibody" EXACT []
xref: UMLS:C1858980
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003455
name: Elevated circulating long chain fatty acid concentration
alt_id: HP:0008333
alt_id: HP:0045016
def: "Increased concentration of long-chain fatty acids in the blood circulation." [HPO:probinson]
comment: This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes.
synonym: "Elevated long chain fatty acids" EXACT []
synonym: "Elevated serum long-chain fatty acids" EXACT []
synonym: "Increased serum long-chain fatty acids" EXACT []
xref: UMLS:C1859241
is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration

[Term]
id: HP:0003456
name: Low urinary cyclic AMP response to PTH administration
xref: UMLS:C1864105
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003457
name: EMG abnormality
alt_id: HP:0002177
alt_id: HP:0003751
alt_id: HP:0003753
alt_id: HP:0100286
def: "Abnormal results of investigations using electromyography (EMG)." [HPO:probinson, pmid:18751841]
synonym: "Abnormal electromyography finding" EXACT []
synonym: "Abnormal EMG" EXACT []
synonym: "Electromyogram abnormal" EXACT []
synonym: "EMG abnormalities" EXACT []
xref: SNOMEDCT_US:274523007
xref: UMLS:C0476403
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003458
name: EMG: myopathic abnormalities
alt_id: HP:0003322
alt_id: HP:0003711
alt_id: HP:0009021
def: "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators]
synonym: "EMG: myopathic changes" EXACT []
synonym: "EMG: myopathy" EXACT []
synonym: "Myopathic electromyogram" EXACT []
xref: UMLS:C4021726
is_a: HP:0003198 ! Myopathy
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0003459
name: Polyclonal elevation of IgM
def: "A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis." [PMID:11508831]
xref: UMLS:C4025612
is_a: HP:0003496 ! Increased circulating IgM level

[Term]
id: HP:0003460
name: Decreased circulating total IgA
def: "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L)." [HPO:probinson]
synonym: "Decreased total IgA in blood" EXACT []
synonym: "Total immunoglobulin A deficiency" EXACT []
xref: UMLS:C4025611
is_a: HP:0002720 ! Decreased circulating IgA level

[Term]
id: HP:0003461
name: Increased urinary O-linked sialopeptides
def: "Excretion of peptides conjugated to sialic acid in the urine." [HPO:probinson]
xref: UMLS:C1836533
is_a: HP:0012067 ! Glycopeptiduria

[Term]
id: HP:0003462
name: Elevated 8-dehydrocholesterol
xref: UMLS:C1840013
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration

[Term]
id: HP:0003463
name: Increased extraneuronal autofluorescent lipopigment
def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:11406682]
synonym: "Lipopigment in extraneuronal cells" RELATED []
xref: UMLS:C1859828
is_a: HP:0011813 ! Increased cerebral lipofuscin

[Term]
id: HP:0003464
name: obsolete Abnormal cholesterol homeostasis
is_obsolete: true
replaced_by: HP:0003107

[Term]
id: HP:0003465
name: Elevated 8(9)-cholestenol
xref: UMLS:C1840014
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration

[Term]
id: HP:0003466
name: Paradoxical increased cortisol secretion on dexamethasone suppression test
xref: UMLS:C1968855
is_a: HP:0011731 ! Abnormality of circulating cortisol level

[Term]
id: HP:0003467
name: Atlantoaxial instability
def: "Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly." [HPO:probinson]
comment: Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord.
subset: hposlim_core
xref: SNOMEDCT_US:202820009
xref: UMLS:C0410653
is_a: HP:0003413 ! Atlantoaxial abnormality

[Term]
id: HP:0003468
name: Abnormal vertebral morphology
alt_id: HP:0005719
def: "An abnormality of one or more of the vertebrae." [HPO:probinson]
comment: A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone).
synonym: "Abnormal vertebrae" EXACT []
synonym: "Abnormal vertebral bodies" RELATED []
synonym: "Abnormality of the vertebrae" EXACT []
synonym: "Multiple vertebral anomalies" RELATED [HPO:skoehler]
synonym: "Vertebral anomalies" EXACT []
xref: Fyler:4108
xref: SNOMEDCT_US:205043005
xref: SNOMEDCT_US:74877002
xref: UMLS:C0158775
xref: UMLS:C4020839
xref: UMLS:C4020840
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0003469
name: Peripheral dysmyelination
def: "Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination." [HPO:probinson]
xref: UMLS:C4025610
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0003470
name: Paralysis
def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators]
synonym: "Inability to move" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Paralysis" EXACT layperson []
xref: MSH:D010243
xref: SNOMEDCT_US:44695005
xref: UMLS:C0522224
is_a: HP:0011442 ! Abnormality of central motor function

[Term]
id: HP:0003472
name: Hypocalcemic tetany
def: "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms." [HPO:probinson]
xref: SNOMEDCT_US:190869004
xref: UMLS:C0151940
is_a: HP:0002901 ! Hypocalcemia
is_a: HP:0012638 ! Abnormality of nervous system physiology

[Term]
id: HP:0003473
name: Fatigable weakness
alt_id: HP:0003399
alt_id: HP:0003428
alt_id: HP:0100794
def: "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [HPO:probinson]
comment: This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering.
synonym: "Fatigable weakness of limb muscles" EXACT []
synonym: "Generalized muscle weakness due to defect at the neuromuscular junction" EXACT []
synonym: "Myasthenia" EXACT []
synonym: "Myasthenic weakness" EXACT []
synonym: "Proximal muscle weakness due to defect at the neuromuscular junction" EXACT []
xref: UMLS:C0947912
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction

[Term]
id: HP:0003474
name: Sensory impairment
alt_id: HP:0100964
def: "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing." [HPO:probinson]
comment: This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia.
synonym: "Hypoaesthesia" EXACT []
synonym: "Hypoesthesia" EXACT []
xref: MSH:D006987
xref: SNOMEDCT_US:397974008
xref: SNOMEDCT_US:398026008
xref: SNOMEDCT_US:59073000
xref: UMLS:C0020580
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0003477
name: Peripheral axonal neuropathy
alt_id: HP:0006814
alt_id: HP:0006842
alt_id: HP:0007169
alt_id: HP:0008304
def: "An abnormality characterized by disruption of the normal functioning of peripheral axons." [HPO:probinson]
comment: This abnormality can be assay by electromyography (EMG) or by nerve biopsy.
synonym: "Axonal neuropathy" EXACT []
synonym: "Axonal peripheral neuropathy" EXACT []
xref: SNOMEDCT_US:128208007
xref: SNOMEDCT_US:60703000
xref: UMLS:C0270921
xref: UMLS:C1263857
is_a: HP:0000764 ! Peripheral axonal degeneration
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0003481
name: Segmental peripheral demyelination/remyelination
alt_id: HP:0003425
def: "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves." [HPO:probinson]
synonym: "Segmental demyelination/remyelination" EXACT []
xref: UMLS:C1843077
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0003482
name: EMG: axonal abnormality
def: "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials." [HPO:probinson]
comment: This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations.
xref: UMLS:C4025609
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0003484
name: Upper limb muscle weakness
def: "Weakness of the muscles of the arms." [HPO:probinson]
synonym: "Decreased arm strength" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Weak arm" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: SNOMEDCT_US:713512009
xref: UMLS:C1698196
is_a: HP:0003690 ! Limb muscle weakness

[Term]
id: HP:0003487
name: Babinski sign
alt_id: HP:0001352
def: "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
comment: A positive Babinski sign can indicate damage to the corticospinal tract.
synonym: "Extensor plantar reflexes" EXACT []
synonym: "Extensor plantar response" EXACT []
synonym: "Extensor plantar responses" EXACT []
xref: SNOMEDCT_US:246586009
xref: SNOMEDCT_US:366575004
xref: UMLS:C0034935
is_a: HP:0007256 ! Abnormal pyramidal sign
is_a: HP:0031828 ! Abnormal superficial reflex

[Term]
id: HP:0003489
name: Acute episodes of neuropathic symptoms
comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia).
xref: UMLS:C1867971
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0003490
name: obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA
is_obsolete: true
replaced_by: HP:0003150

[Term]
id: HP:0003491
name: Elevated urine pyrophosphate
def: "An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson]
xref: UMLS:C4025607
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003492
name: High urinary gonadotropin level
def: "An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism." []
comment: 'has part' some \n('increased amount' and ('inheres in' some \n('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal))
xref: UMLS:C4025606
is_a: HP:0012029 ! Abnormal urine hormone level

[Term]
id: HP:0003493
name: Antinuclear antibody positivity
def: "The presence of autoantibodies in the serum that react against nuclei or nuclear components." [HPO:probinson]
comment: Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim.
synonym: "Antinuclear antibodies" EXACT []
synonym: "Antinuclear antibody positive" EXACT []
synonym: "Elevated antinuclear antibody" EXACT []
synonym: "Serum antinuclear antibody" EXACT []
xref: SNOMEDCT_US:165850001
xref: UMLS:C0151480
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003494
name: obsolete Loss of heterozygosity, multiple chromosomes
is_obsolete: true
consider: HP:0001428

[Term]
id: HP:0003495
name: GM2-ganglioside accumulation
def: "Cellular accumulation of GM2 gangliosides." [PMID:30524313]
comment: Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue.
xref: UMLS:C1848920
is_a: HP:0004345 ! Ganglioside accumulation

[Term]
id: HP:0003496
name: Increased circulating IgM level
alt_id: HP:0002962
def: "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson]
synonym: "Increased IgM levels" EXACT []
synonym: "Increased levels of IgM" EXACT []
xref: UMLS:C1839972
is_a: HP:0010702 ! Increased antibody level in blood
is_a: HP:0410243 ! Abnormal IgM level

[Term]
id: HP:0003498
name: Disproportionate short stature
alt_id: HP:0008895
alt_id: HP:0008900
def: "A kind of short stature in which different regions of the body are shortened to differing extents." [HPO:probinson]
synonym: "Short stature, disproportionate" EXACT []
synonym: "Short stature, severe disproportionate" RELATED [HPO:skoehler]
xref: UMLS:C0878659
xref: UMLS:C1846797
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0003502
name: Mild short stature
alt_id: HP:0003503
alt_id: HP:0008879
alt_id: HP:0008908
def: "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex." [DDD:hfirth]
synonym: "Relative short stature" RELATED []
synonym: "short stature, mild" EXACT [HPO:skoehler]
xref: UMLS:C3150077
xref: UMLS:C4020838
is_a: HP:0003508 ! Proportionate short stature

[Term]
id: HP:0003508
name: Proportionate short stature
alt_id: HP:0003499
def: "A kind of short stature in which different regions of the body are shortened to a comparable extent." [HPO:probinson]
synonym: "Proportionate small stature" EXACT []
synonym: "Short stature, proportionate" EXACT []
xref: UMLS:C0878660
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0003510
name: Severe short stature
alt_id: HP:0001424
alt_id: HP:0001516
alt_id: HP:0003504
alt_id: HP:0008867
alt_id: HP:0008884
alt_id: HP:0008907
alt_id: HP:0008920
alt_id: HP:0008930
def: "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." [HPO:probinson]
comment: The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm).
synonym: "Dwarfism" EXACT layperson []
synonym: "Proportionate dwarfism" EXACT layperson []
synonym: "Severe short stature" EXACT layperson []
synonym: "Short stature, extreme" EXACT [HPO:skoehler]
synonym: "Short stature, severe" EXACT layperson [HPO:skoehler]
xref: MSH:D004392
xref: SNOMEDCT_US:237836003
xref: SNOMEDCT_US:237837007
xref: SNOMEDCT_US:422065006
xref: UMLS:C0013336
is_a: HP:0003508 ! Proportionate short stature

[Term]
id: HP:0003513
name: Reduced ratio of renal calcium clearance to creatinine clearance
def: "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01." [HPO:probinson]
synonym: "Reduced ration of kidney calcium clearance to creatinine clearance" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
synonym: "Reduced ration of renal Ca clearance to creatinine clearance" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Reduced ration of renal Ca2+ to creatinine clearance" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4025605
is_a: HP:0011280 ! Abnormality of urine calcium concentration

[Term]
id: HP:0003514
name: Deficiency or absence of cytochrome b(-245)
synonym: "Deficiency or absence of cytochrome b" EXACT []
xref: UMLS:C1844390
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0003517
name: Birth length greater than 97th percentile
xref: UMLS:C1839271
is_a: HP:0000098 ! Tall stature

[Term]
id: HP:0003521
name: Disproportionate short-trunk short stature
alt_id: HP:0001524
alt_id: HP:0003500
alt_id: HP:0008923
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs." [HPO:probinson]
synonym: "Disproportionate short-trunked dwarfism" EXACT layperson []
synonym: "Disproportionate short-trunked short stature" EXACT layperson []
synonym: "Short-trunked dwarfism" EXACT layperson []
xref: UMLS:C1846435
is_a: HP:0003498 ! Disproportionate short stature
is_a: HP:0009121 ! Abnormal axial skeleton morphology

[Term]
id: HP:0003524
name: Decreased methionine synthase activity
def: "A reduction in methionine synthase activity." [HPO:probins]
comment: Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine.
synonym: "Decreased activity of methionine synthase" EXACT []
synonym: "Methionine synthase activity decreased" EXACT []
synonym: "Methionine synthase deficiency" EXACT []
synonym: "Reduced methionine synthase activity" EXACT []
xref: UMLS:C1848580
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003526
name: Orotic acid crystalluria
def: "Formation of crystals owing to an increased concentration of orotic acid in the urine." [HPO:probinson]
xref: UMLS:C3278626
is_a: HP:0020074 ! Crystalluria

[Term]
id: HP:0003527
name: Hyperprostaglandinuria
def: "An increased concentration of prostaglandin in the urine." [HPO:probinson]
synonym: "High urine prostaglandin levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1866498
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003528
name: Elevated calcitonin
comment: Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone.
synonym: "Elevated calcitonin" EXACT layperson []
xref: UMLS:C1868394
is_a: HP:0100530 ! Abnormal calcium-phosphate regulating hormone level

[Term]
id: HP:0003529
name: Parathormone-independent increased renal tubular calcium reabsorption
def: "An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels." [HPO:probinson, pmid:23802516]
comment: This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis.
synonym: "Parathormone-independent increased renal tubular Ca reabsorption" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Parathormone-independent increased renal tubular Ca2+ reabsorption" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4025604
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003530
name: Glutaric acidemia
def: "An increased concentration of glutaric acid in the blood." [HPO:gcarletti]
synonym: "Glutarate acidemia" EXACT [https://orcid.org/0000-0001-9969-8610]
xref: UMLS:C4025603
is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration
is_a: HP:0032368 ! Acidemia

[Term]
id: HP:0003532
name: Ornithinuria
def: "An increased concentration of ornithine in the urine." [HPO:probinson]
xref: UMLS:C4025602
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003533
name: Reduced acetaldehyde dehydrogenase activity
def: "Decreased activity of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism." [PMID:17718394]
comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase.
synonym: "Delayed oxidation of acetaldehyde" EXACT []
xref: UMLS:C4025601
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003534
name: Reduced xanthine dehydrogenase activity
def: "An abnormal reduction in xanthine dehydrogenase activity." [HPO:probinson]
comment: This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+.
synonym: "Xanthine dehydrogenase deficiency" RELATED []
xref: MSH:C562584
xref: SNOMEDCT_US:124147007
xref: SNOMEDCT_US:72682008
xref: UMLS:C0268118
xref: UMLS:C4025600
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003535
name: 3-Methylglutaconic aciduria
comment: 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine.
xref: MSH:C579867
xref: SNOMEDCT_US:237950009
xref: UMLS:C3696376
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0003536
name: Decreased fumarate hydratase activity
def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity." [HPO:probinson]
comment: Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate.
xref: UMLS:C1853903
is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism

[Term]
id: HP:0003537
name: Hypouricemia
def: "An abnormally low level of uric acid in the blood." [HPO:curators]
synonym: "Low blood uric acid levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:4519003
xref: UMLS:C0221333
is_a: HP:0002157 ! Azotemia
is_a: HP:0004369 ! Decreased purine level

[Term]
id: HP:0003538
name: Increased serum iduronate sulfatase activity
def: "An increased rate of iduronate-2-sulfatase activity in the blood." [HPO:probinson]
comment: Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta.
synonym: "Increased serum iduronate sulfatase" RELATED []
xref: UMLS:C2673363
xref: UMLS:C4025599
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003540
name: Impaired platelet aggregation
alt_id: HP:0008177
def: "An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [DDD:wouwehand]
synonym: "Defective platelet aggregation" EXACT []
synonym: "Deficient platelet aggregation" EXACT []
synonym: "Platelet aggregation defect" EXACT []
xref: UMLS:C1855853
is_a: HP:0030402 ! Abnormal platelet aggregation

[Term]
id: HP:0003541
name: Urinary glycosaminoglycan excretion
def: "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit." [HPO:probinson]
xref: UMLS:C4025598
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003542
name: Increased serum pyruvate
def: "An increased concentration of pyruvate in the blood." [HPO:gcarletti]
comment: An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle.
synonym: "Increased serum pyruvic acid" EXACT []
xref: UMLS:C1849488
is_a: HP:0004366 ! Abnormality of glycolysis

[Term]
id: HP:0003546
name: Exercise intolerance
def: "A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender." [PMID:10617757]
synonym: "Decreased ability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757]
synonym: "Inability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757]
synonym: "Poor exercise tolerance" EXACT []
xref: SNOMEDCT_US:267044007
xref: UMLS:C0424551
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0003547
name: Shoulder girdle muscle weakness
alt_id: HP:0003695
alt_id: HP:0009009
def: "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators]
synonym: "Muscle weakness, shoulder-girdle" EXACT []
synonym: "Shoulder girdle weakness" EXACT []
synonym: "Shoulder weakness" EXACT []
synonym: "Weak shoulder muscles" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: SNOMEDCT_US:249940002
xref: UMLS:C0427063
xref: UMLS:C0748691
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature
is_a: HP:0003325 ! Limb-girdle muscle weakness

[Term]
id: HP:0003548
name: Subsarcolemmal accumulations of abnormally shaped mitochondria
def: "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology." [HPO:probinson]
comment: This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies.
xref: UMLS:C4025597
is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction

[Term]
id: HP:0003549
name: Abnormality of connective tissue
def: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [HPO:curators]
xref: UMLS:C4025596
is_a: HP:0000118 ! Phenotypic abnormality

[Term]
id: HP:0003550
name: Predominantly lower limb lymphedema
def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs." [HPO:probinson]
xref: UMLS:C1835228
is_a: HP:0001004 ! Lymphedema

[Term]
id: HP:0003551
name: Difficulty climbing stairs
alt_id: HP:0007019
def: "Reduced ability to climb stairs." [HPO:probinson]
synonym: "Difficulty walking up stairs" EXACT layperson []
xref: SNOMEDCT_US:282195009
xref: UMLS:C0239067
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0003552
name: Muscle stiffness
alt_id: HP:0009014
def: "A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [HPO:probinson]
xref: SNOMEDCT_US:16046003
xref: UMLS:C0221170
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003553
name: obsolete Cellulitis due to immunodeficiency
is_obsolete: true
replaced_by: HP:0100658

[Term]
id: HP:0003554
name: Type 2 muscle fiber atrophy
def: "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson]
comment: This finding can be demonstrated by muscle biopsy.
synonym: "Type 2 fiber atrophy" EXACT []
xref: UMLS:C1864580
is_a: HP:0100295 ! Muscle fiber atrophy

[Term]
id: HP:0003555
name: Muscle fiber splitting
def: "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [pmid:6123177]
synonym: "Fiber splitting" EXACT []
synonym: "Fibre splitting" EXACT []
synonym: "Muscle fibre splitting" EXACT []
xref: UMLS:C1836057
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0003557
name: Increased variability in muscle fiber diameter
alt_id: HP:0003556
def: "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators]
comment: This finding can be demonstrated by muscle biopsy.
synonym: "Increased fiber size variation" EXACT []
synonym: "Increased variability in muscle fiber size" EXACT []
synonym: "Increased variation in fiber size" EXACT []
synonym: "Increased variation in muscle fiber size" EXACT []
synonym: "Variation in muscle fiber size" EXACT []
xref: UMLS:C1843700
is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size

[Term]
id: HP:0003558
name: Viral infection-induced rhabdomyolysis
def: "Rhabdomyolysis induced by a viral infection." [HPO:probinson]
xref: UMLS:C4025595
is_a: HP:0003201 ! Rhabdomyolysis

[Term]
id: HP:0003559
name: Muscle hyperirritability
xref: UMLS:C1853701
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003560
name: Muscular dystrophy
alt_id: HP:0003544
alt_id: HP:0003806
def: "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities." [HPO:probinson, Neuromics:vstraub]
comment: Muscular dystrophy can be demonstrated by muscle biopsy.
synonym: "Muscle biopsy shows dystrophic changes" RELATED [HPO:skoehler]
xref: MSH:D009136
xref: SNOMEDCT_US:193225000
xref: SNOMEDCT_US:73297009
xref: UMLS:C0026850
xref: UMLS:C1864711
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0003561
name: Birth length less than 3rd percentile
synonym: "Birth length < 3rd percentile" EXACT []
synonym: "Birth length <3rd percentile" EXACT []
xref: UMLS:C1855650
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0003562
name: Abnormal metaphyseal vascular invasion
xref: UMLS:C3277127
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0003563
name: Decreased LDL cholesterol concentration
def: "An decreased concentration of low-density lipoprotein cholesterol in the blood." [HPO:gcarletti]
comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol.
synonym: "Decreased circulating low-density lipoprotein levels" EXACT []
synonym: "Decreased LDL" RELATED HP:0045077 []
synonym: "Decreased LDLc concentration" EXACT HP:0045077 []
synonym: "Hypobetalipoproteinemia" EXACT []
xref: MSH:D006995
xref: SNOMEDCT_US:190786004
xref: UMLS:C0020597
xref: UMLS:C0853085
is_a: HP:0010981 ! Hypolipoproteinemia
is_a: HP:0031886 ! Abnormal LDL cholesterol concentration

[Term]
id: HP:0003564
name: Folate-dependent fragile site at Xq28
def: "The presence of a folate sensitive fragile site at chromosome Xq28." [HPO:probinson]
comment: Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA).
xref: UMLS:C1839785
is_a: HP:0040012 ! Chromosome breakage

[Term]
id: HP:0003565
name: Elevated erythrocyte sedimentation rate
def: "An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen." [PMID:10524488]
synonym: "Elevated ESR" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Elevated sedimentation rate" EXACT []
synonym: "High erythrocyte sedimentation rate" EXACT []
synonym: "High ESR" EXACT layperson []
synonym: "Increased erythrocyte sedimentation rate" EXACT []
synonym: "Raised erythrocyte sedimentation rate" EXACT []
xref: SNOMEDCT_US:165468009
xref: UMLS:C0151632
is_a: HP:0025021 ! Abnormal erythrocyte sedimentation rate

[Term]
id: HP:0003566
name: Increased serum prostaglandin E2
alt_id: HP:0008298
def: "An increased concentration of prostaglandin E2 in the blood." [HPO:probinson]
synonym: "Elevated prostaglandin E2" EXACT []
xref: UMLS:C3150358
is_a: HP:0011023 ! Abnormal circulating prostaglandin circulation

[Term]
id: HP:0003568
name: Decreased glucosephosphate isomerase activity
alt_id: HP:0003290
def: "A decreased rate of glucose-6-phosphate isomerase activity." [HPO:gcarletti]
comment: Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9).
synonym: "Decreased glucose phosphate isomerase activity" EXACT []
synonym: "Glucosephosphate isomerase deficiency" EXACT []
synonym: "Phosphohexose isomerase deficiency" EXACT []
xref: SNOMEDCT_US:124669001
xref: UMLS:C1291611
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003570
name: Molybdenum cofactor deficiency
def: "Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase." [HPO:probinson]
xref: MSH:C535811
xref: SNOMEDCT_US:29692004
xref: UMLS:C0268119
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003571
name: Propionicacidemia
xref: MSH:D056693
xref: SNOMEDCT_US:124718009
xref: SNOMEDCT_US:69080001
xref: UMLS:C0268579
is_a: HP:0032368 ! Acidemia

[Term]
id: HP:0003572
name: Low plasma citrulline
def: "A decreased concentration of citrulline in the blood." [HPO:gcarletti]
xref: UMLS:C1839532
is_a: HP:0011965 ! Abnormal circulating citrulline concentration

[Term]
id: HP:0003573
name: Increased total bilirubin
alt_id: HP:0008168
def: "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood." [HPO:probinson]
synonym: "High bili total" EXACT layperson []
synonym: "Increased bilirubin" EXACT []
xref: SNOMEDCT_US:176271000119108
xref: UMLS:C0741494
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0003574
name: Positive regitine blocking test
def: "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension." [HPO:probinson]
comment: Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites.
xref: UMLS:C4025594
is_a: HP:0002640 ! Hypertension associated with pheochromocytoma

[Term]
id: HP:0003575
name: Increased intracellular sodium
def: "An abnormally increased sodium concentration in the cytosol." [HPO:gcarletti]
synonym: "High intracellular Na" EXACT []
synonym: "Increased intracellular Na+ levels" EXACT []
xref: UMLS:C4025593
is_a: HP:0011017 ! Abnormal cellular physiology

[Term]
id: HP:0003577
name: Congenital onset
alt_id: HP:0003595
alt_id: HP:0003601
alt_id: HP:0003624
alt_id: HP:0003660
alt_id: HP:0003666
def: "A phenotypic abnormality that is present at birth." [HPO:probinson]
comment: Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674).
synonym: "Intrauterine onset" EXACT []
synonym: "Onset at birth" EXACT []
synonym: "Onset in utero" EXACT []
synonym: "Prenatal onset" RELATED [HPO:curators]
synonym: "Symptoms present at birth" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: UMLS:C1836142
xref: UMLS:C2752013
is_a: HP:0003674 ! Onset

[Term]
id: HP:0003581
name: Adult onset
alt_id: HP:0003585
alt_id: HP:0003598
alt_id: HP:0003627
alt_id: HP:0003662
alt_id: HP:0003669
def: "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." [HPO:probinson]
synonym: "Onset in adulthood" EXACT []
synonym: "Onset in early adulthood" EXACT []
synonym: "Symptoms begin in adulthood" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: UMLS:C1853562
is_a: HP:0003674 ! Onset

[Term]
id: HP:0003584
name: Late onset
def: "A type of adult onset with onset of symptoms after the age of 60 years." [HPO:probinson]
xref: UMLS:C4025592
is_a: HP:0003581 ! Adult onset

[Term]
id: HP:0003587
name: Insidious onset
def: "Gradual, very slow onset of disease manifestations." [HPO:probinson]
synonym: "Gradual onset" EXACT layperson []
xref: SNOMEDCT_US:367326009
xref: SNOMEDCT_US:61751001
xref: UMLS:C0332164
xref: UMLS:C1298634
is_a: HP:0011008 ! Temporal pattern

[Term]
id: HP:0003593
name: Infantile onset
alt_id: HP:0003576
alt_id: HP:0003579
alt_id: HP:0003591
alt_id: HP:0003594
alt_id: HP:0003599
alt_id: HP:0003600
alt_id: HP:0003629
alt_id: HP:0003631
alt_id: HP:0003667
alt_id: HP:0003672
alt_id: HP:0010573
def: "Onset of signs or symptoms of disease between 28 days to one year of life." [HPO:probinson]
comment: Onset of signs or symptoms of disease within the first 12 months of life.
synonym: "Infantile onset" EXACT layperson []
synonym: "Onset in first year of life" EXACT layperson []
synonym: "Onset in infancy" EXACT layperson []
xref: UMLS:C1848924
is_a: HP:0410280 ! Pediatric onset

[Term]
id: HP:0003596
name: Middle age onset
def: "A type of adult onset with onset of symptoms at the age of 40 to 60 years." [HPO:probinson]
comment: Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years.
xref: UMLS:C1969363
is_a: HP:0003581 ! Adult onset

[Term]
id: HP:0003606
name: Absent urinary urothione
def: "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine." [HPO:probinson]
comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor.
xref: UMLS:C4025591
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003607
name: 4-Hydroxyphenylacetic aciduria
def: "Increased concentration of 4-hydroxyphenylacetic acid in the urine." [HPO:probinson]
comment: 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.
xref: MSH:C535315
xref: UMLS:C1848680
is_a: HP:0040156 ! Elevated urinary carboxylic acid

[Term]
id: HP:0003609
name: Foam cells with lamellar inclusion bodies
def: "The presence of foam cells that contain lamellar inclusion bodies." [HPO:probinson]
comment: Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy.
xref: UMLS:C4025590
is_a: HP:0003651 ! Foam cells

[Term]
id: HP:0003610
name: Fibroblast metachromasia
def: "Increased cytoplasmic staining of fibroblasts with toluidine blue." [HPO:probinson, pmid:4195824]
comment: Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia.
xref: UMLS:C1835008
is_a: HP:0003653 ! Cellular metachromasia

[Term]
id: HP:0003612
name: Positive ferric chloride test
def: "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood." [HPO:probinson]
comment: The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevanted in phenylketonuria.
synonym: "Positive FeCl3 test" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4025589
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration

[Term]
id: HP:0003613
name: Antiphospholipid antibody positivity
def: "The presence of circulating autoantibodies to phospholipids." [HPO:probinson]
comment: This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies.
synonym: "Antiphospholipid antibodies" EXACT []
synonym: "Antiphospholipid antibody" EXACT []
synonym: "Phospholipid antibody positivity" EXACT []
xref: UMLS:C4019436
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0003614
name: Trimethylaminuria
def: "Increased concentration of trimethylamine in the urine." [HPO:probinson]
comment: Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide.
synonym: "High urine trimethylamine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C536561
xref: SNOMEDCT_US:237959005
xref: UMLS:C0342739
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003616
name: Premature separation of centromeric heterochromatin
xref: UMLS:C1849316
is_a: HP:0200024 ! Premature chromatid separation

[Term]
id: HP:0003621
name: Juvenile onset
alt_id: HP:0003578
alt_id: HP:0003580
alt_id: HP:0003582
alt_id: HP:0003583
alt_id: HP:0003589
alt_id: HP:0003592
alt_id: HP:0003604
alt_id: HP:0003619
alt_id: HP:0003620
alt_id: HP:0003625
alt_id: HP:0003659
alt_id: HP:0003661
alt_id: HP:0003670
def: "Onset of signs or symptoms of disease between the age of 5 and 15 years." [HPO:probinson]
synonym: "Signs and symptoms begin before 15 years of age" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C4025588
is_a: HP:0410280 ! Pediatric onset

[Term]
id: HP:0003623
name: Neonatal onset
alt_id: HP:0003622
def: "Onset of signs or symptoms of disease within the first 28 days of life." [HPO:probinson]
synonym: "Neonatal onset" EXACT layperson []
synonym: "Onset in first weeks of life" EXACT []
synonym: "Onset in neonatal period" EXACT []
xref: UMLS:C1855106
is_a: HP:0003674 ! Onset

[Term]
id: HP:0003634
name: Amyoplasia
alt_id: HP:0008990
def: "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [HPO:probinson, Neuromics:vstraub]
synonym: "Absent muscles since birth" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Congenital absence of muscles" EXACT []
xref: SNOMEDCT_US:205532005
xref: UMLS:C0432185
is_a: HP:0100854 ! Aplasia of the musculature

[Term]
id: HP:0003635
name: Loss of subcutaneous adipose tissue in limbs
alt_id: HP:0003757
def: "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg." [HPO:probinson]
subset: hposlim_core
synonym: "Loss of fat tissue below the skin in limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT []
xref: UMLS:C1837764
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0003637
name: Reduced 4-Hydroxyphenylpyruvate dioxygenase activity
def: "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase activity." [HPO:curators]
comment: Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.
synonym: "Reducted HPPD activity" EXACT HP:0045077 []
xref: UMLS:C4025587
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003639
name: Elevated urinary epinephrine
def: "An increased concentration of adrenaline in the urine." [HPO:probinson]
synonym: "Increased urinary epinephrine" EXACT []
xref: UMLS:C1868393
is_a: HP:0011976 ! Elevated urinary catecholamines

[Term]
id: HP:0003640
name: Foam cells in visceral organs and CNS
xref: UMLS:C1843373
is_a: HP:0003651 ! Foam cells

[Term]
id: HP:0003641
name: Hemoglobinuria
def: "The presence of free hemoglobin in the urine." [HPO:probinson]
comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine.
synonym: "Hemoglobin in urine" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006456
xref: SNOMEDCT_US:68600005
xref: UMLS:C0019048
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0003642
name: Type I transferrin isoform profile
def: "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II." [HPO:probinson, pmid:15105360, pmid:22516080]
comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal.
synonym: "Abnormal isoelectric focusing of serum transferrin, type I pattern" EXACT []
synonym: "Isoelectric focusing of serum transferrin consistent with CDG type I" EXACT []
synonym: "Type 1 transferrin isoform profile" EXACT []
xref: UMLS:C1837899
is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin

[Term]
id: HP:0003643
name: Sulfite oxidase deficiency
def: "Abnormally reduced sulfite oxidase activity." [HPO:probinson]
comment: Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids.
xref: MSH:C538141
xref: SNOMEDCT_US:367368009
xref: UMLS:C0268624
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003645
name: Prolonged partial thromboplastin time
def: "Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms." [HPO:probinson]
synonym: "Abnormal partial thromboplastin time" EXACT []
synonym: "Delayed thromboplastin generation" EXACT []
synonym: "Partial thromboplastin time prolonged" EXACT []
synonym: "Prolonged activated partial thromboplastin time" EXACT []
synonym: "Prolonged PTT" EXACT HP:0045077 []
xref: SNOMEDCT_US:409675001
xref: UMLS:C0240671
is_a: HP:0001928 ! Abnormality of coagulation

[Term]
id: HP:0003646
name: Bicarbonaturia
def: "Abnormally increased concentration of hydrogencarbonate in the urine." [HPO:probinson]
synonym: "Increased urine bicarbonate concentration" EXACT HP:0045077 []
synonym: "Increased urine HCO3 concentration" EXACT []
xref: UMLS:C1839865
is_a: HP:0011279 ! Abnormality of urine bicarbonate concentration

[Term]
id: HP:0003647
name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
xref: UMLS:C4025586
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0003648
name: Lacticaciduria
def: "An increased concentration of lactic acid in the urine." [HPO:probinson]
synonym: "High urine lactic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025585
is_a: HP:0012072 ! Aciduria

[Term]
id: HP:0003649
name: Abnormality of glycoside metabolism
def: "Abnormality of glycoside metabolism." [HPO:probinson]
comment: Glycosides are molecules with a suger moiety bound to some other moiety.
xref: UMLS:C4025584
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: peter
creation_date: 2008-03-08T08:32:00Z

[Term]
id: HP:0003651
name: Foam cells
alt_id: HP:0003650
def: "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance." [HPO:probinson]
comment: Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy.
synonym: "Foamy histiocytes" EXACT []
synonym: "Foamy macrophages" EXACT []
synonym: "Lipid-laden histiocytes" EXACT []
synonym: "Presence of foam cells" EXACT []
xref: MSH:D005487
xref: SNOMEDCT_US:16980002
xref: UMLS:C0016390
is_a: HP:0002621 ! Atherosclerosis

[Term]
id: HP:0003652
name: Recurrent myoglobinuria
alt_id: HP:0008313
def: "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue." [HPO:probinson]
synonym: "Myoglobinuria, episodic" EXACT []
synonym: "Myoglobinuria, recurrent" EXACT [HPO:skoehler]
xref: MSH:C564018
xref: UMLS:C1838877
is_a: HP:0002913 ! Myoglobinuria

[Term]
id: HP:0003653
name: Cellular metachromasia
def: "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans." [HPO:probinson, pmid:4195824]
comment: This investigation is no longer in common use.
xref: UMLS:C4025583
is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism

[Term]
id: HP:0003654
name: Reduced dihydropyrimidine dehydrogenase activity
def: "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) activity." [HPO:gcarletti]
comment: Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides.
synonym: "Dihydropyrimidine dehydrogenase deficiency" RELATED []
xref: MSH:D054067
xref: SNOMEDCT_US:77365006
xref: UMLS:C1959620
xref: UMLS:C4025582
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003655
name: Reduced activity of N-acetylglucosaminyltransferase II
def: "An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity." [HPO:gcarletti]
synonym: "Deficient N-acetylglucosaminyltransferase II" EXACT []
xref: UMLS:C4021725
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003656
name: Decreased beta-glucocerebrosidase activity
def: "Reduced activity of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose." []
comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides.
synonym: "Decreased lysosomal acid glucosylceramidase activity" EXACT []
xref: UMLS:C1842710
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0003657
name: Granular osmiophilic deposits (GROD) in cells
xref: UMLS:C1859833
is_a: HP:0004356 ! Abnormality of lysosomal metabolism

[Term]
id: HP:0003658
name: Hypomethioninemia
def: "A decreased concentration of methionine in the blood." [HPO:gcarletti]
comment: Normal methionine blood levels are around 30 micromole per liter.
synonym: "Decreased plasma methionine" EXACT layperson []
synonym: "Decreased serum methionine" EXACT layperson []
xref: UMLS:C1848555
is_a: HP:0010901 ! Abnormal circulating methionine concentration

[Term]
id: HP:0003665
name: Amyotrophy of the musculature of the pelvis
def: "Muscular atrophy affecting the muscles of the pelvis." [HPO:curators]
xref: UMLS:C4025581
is_a: HP:0008988 ! Pelvic girdle muscle atrophy
created_by: peter
creation_date: 2008-04-07T10:57:00Z

[Term]
id: HP:0003674
name: Onset
alt_id: HP:0003588
alt_id: HP:0003590
alt_id: HP:0003597
alt_id: HP:0003602
alt_id: HP:0003603
alt_id: HP:0003618
alt_id: HP:0003626
alt_id: HP:0003628
alt_id: HP:0003630
alt_id: HP:0003663
alt_id: HP:0003664
alt_id: HP:0003668
alt_id: HP:0011007
def: "The age group in which disease manifestations appear." [HPO:probinson]
comment: Adolescent is defined by WHO as a person between 10-19 years of age.
synonym: "Age of onset" EXACT []
synonym: "Age symptoms begin" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D017668
xref: UMLS:C0206132
is_a: HP:0031797 ! Clinical course

[Term]
id: HP:0003676
name: Progressive
synonym: "Progressive disorder" RELATED []
synonym: "Worsens with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:252157006
xref: SNOMEDCT_US:255314001
xref: UMLS:C0205329
xref: UMLS:C1864985
is_a: HP:0003679 ! Pace of progression

[Term]
id: HP:0003677
name: Slow progression
alt_id: HP:0003675
alt_id: HP:0003681
synonym: "Signs and symptoms worsen slowly with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Slow disease progression" EXACT []
synonym: "Slowly progressive" EXACT []
synonym: "Slowly progressive disorder" EXACT []
xref: UMLS:C1854494
is_a: HP:0003679 ! Pace of progression

[Term]
id: HP:0003678
name: Rapidly progressive
synonym: "Rapid progression" EXACT []
synonym: "Rapidly progressive disorder" RELATED [HPO:skoehler]
synonym: "Worsening quickly" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1838681
xref: UMLS:C1850776
is_a: HP:0003679 ! Pace of progression

[Term]
id: HP:0003679
name: Pace of progression
xref: UMLS:C4025580
is_a: HP:0031797 ! Clinical course

[Term]
id: HP:0003680
name: Nonprogressive
alt_id: HP:0003685
synonym: "Does not worsen" EXACT [http://purl.obolibrary.org/obo/hp.owl#layperson, ORCID:0000-0002-6548-5200]
synonym: "Non-progressive" EXACT []
synonym: "Nonprogressive course" EXACT []
synonym: "Nonprogressive disorder" EXACT []
synonym: "Stationary" EXACT []
xref: SNOMEDCT_US:702322003
xref: UMLS:C3839460
is_a: HP:0003679 ! Pace of progression

[Term]
id: HP:0003682
name: Variable progression rate
xref: UMLS:C1970284
is_a: HP:0003679 ! Pace of progression

[Term]
id: HP:0003683
name: Large beaked nose
synonym: "Large beaked nose" EXACT layperson []
xref: UMLS:C4025579
is_a: HP:0011119 ! Abnormality of the nasal dorsum

[Term]
id: HP:0003687
name: Centrally nucleated skeletal muscle fibers
def: "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells)." [HPO:probinson, PMID:20181480]
comment: Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma).
synonym: "Central nuclei" EXACT []
synonym: "Centralized nuclei" EXACT []
synonym: "Centralized sarcomeric nuclei" EXACT []
xref: UMLS:C1842170
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0003688
name: Cytochrome C oxidase-negative muscle fibers
alt_id: HP:0003734
alt_id: HP:0009006
def: "An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue." [HPO:probinson]
comment: This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane.
synonym: "Cytochrome c oxidase deficiency in skeletal muscle" EXACT []
synonym: "Decreased activity of cytochrome C oxidase in muscle tissue" EXACT []
synonym: "Decreased skeletal muscle cytochrome c oxidase activity" EXACT []
xref: UMLS:C4021724
is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction

[Term]
id: HP:0003689
name: Multiple mitochondrial DNA deletions
alt_id: HP:0003801
def: "The presence of multiple deletions of mitochondrial DNA (mtDNA)." [HPO:probinson]
comment: This feature can be demonstrated by muscle biopsy.
synonym: "Multiple mtDNA deletions" EXACT []
xref: UMLS:C3277376
is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue

[Term]
id: HP:0003690
name: Limb muscle weakness
alt_id: HP:0002534
def: "Reduced strength and weakness of the muscles of the arms and legs." [HPO:sdoelken]
synonym: "Limb muscle weakness" EXACT layperson []
synonym: "Limb weakness" EXACT layperson []
xref: SNOMEDCT_US:713514005
xref: UMLS:C0587246
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0003691
name: Scapular winging
alt_id: HP:0000783
def: "Abnormal protrusion of the scapula away from the surface of the back." [HPO:probinson]
comment: The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging.
subset: hposlim_core
synonym: "Scapula alata" EXACT []
synonym: "Scapular weakness" RELATED []
synonym: "Winged scapulae" EXACT []
synonym: "Winged scapulas" EXACT []
synonym: "Winged shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MEDDRA:10067628 "Winged scapula"
xref: SNOMEDCT_US:17211005
xref: UMLS:C0240953
xref: UMLS:C4072849
is_a: HP:0000782 ! Abnormality of the scapula
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature

[Term]
id: HP:0003693
name: Distal amyotrophy
alt_id: HP:0002484
alt_id: HP:0002934
alt_id: HP:0003486
alt_id: HP:0003699
alt_id: HP:0006786
alt_id: HP:0006864
alt_id: HP:0008937
alt_id: HP:0008958
alt_id: HP:0009015
alt_id: HP:0009040
alt_id: HP:0009065
def: "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
comment: Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution).
synonym: "Amyotrophy of distal limb muscles" EXACT []
synonym: "Distal amyotrophy, especially of the hands and feet" EXACT []
synonym: "Distal limb muscle atrophy" EXACT []
synonym: "Distal muscle atrophy" EXACT []
synonym: "Distal muscle atrophy, upper and lower limbs" EXACT []
synonym: "Distal muscle degeneration" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Distal muscle wasting" EXACT layperson []
synonym: "Distal muscular atrophy" EXACT []
synonym: "Muscle atrophy, distal" EXACT []
xref: UMLS:C1848736
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0003694
name: Late-onset proximal muscle weakness
def: "Lack of strength of the proximal musculature occurring late in the clinical course." [HPO:curators]
xref: UMLS:C4025578
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0003696
name: Absent epiphysis of the distal phalanx of the 5th finger
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [HPO:curators]
synonym: "Absent end part of the outermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the outermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the outermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025577
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009382 ! Absent epiphyses of the 5th finger
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T01:37:43Z

[Term]
id: HP:0003697
name: Scapuloperoneal amyotrophy
alt_id: HP:0006920
alt_id: HP:0008957
def: "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles." [HPO:probinson]
synonym: "Scapuloperoneal atrophy" EXACT []
xref: UMLS:C1842162
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0003698
name: Difficulty standing
synonym: "Difficulty in standing" EXACT layperson []
synonym: "Standing instability" EXACT []
xref: SNOMEDCT_US:249902000
xref: UMLS:C0241237
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0003700
name: Generalized amyotrophy
alt_id: HP:0008977
alt_id: HP:0008987
alt_id: HP:0008996
alt_id: HP:0009043
alt_id: HP:0009052
alt_id: HP:0009068
alt_id: HP:0009074
def: "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles." [HPO:probinson]
synonym: "Diffuse amyotrophy" EXACT []
synonym: "Diffuse muscle atrophy" EXACT []
synonym: "Diffuse muscle wasting" EXACT []
synonym: "Diffuse skeletal muscle wasting" EXACT layperson []
synonym: "Generalized muscle atrophy" EXACT []
synonym: "Generalized muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Muscle atrophy, diffuse" EXACT []
synonym: "Muscle atrophy, generalized" EXACT layperson []
synonym: "Muscular atrophy, generalized" EXACT []
xref: UMLS:C1389113
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0003701
name: Proximal muscle weakness
alt_id: HP:0003432
alt_id: HP:0003475
alt_id: HP:0007195
alt_id: HP:0008950
alt_id: HP:0008961
alt_id: HP:0008975
alt_id: HP:0009033
alt_id: HP:0009075
def: "A lack of strength of the proximal muscles." [HPO:probinson]
comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ.
synonym: "Muscle weakness, proximal" EXACT []
synonym: "Proximal limb muscle weakness" EXACT []
synonym: "Proximal limb weakness" EXACT []
synonym: "Proximal neurogenic muscle weakness" RELATED layperson []
synonym: "Weakness in muscles of upper arms and upper legs" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:249939004
xref: UMLS:C0221629
xref: UMLS:C1838869
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003704
name: Scapuloperoneal weakness
synonym: "Neurogenic scapuloperoneal syndrome" EXACT []
xref: UMLS:C1842161
is_a: HP:0001324 ! Muscle weakness

[Term]
id: HP:0003707
name: Calf muscle pseudohypertrophy
def: "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat." [HPO:probinson]
comment: Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions.
synonym: "Pseudohypertrophy of the calves" EXACT []
xref: UMLS:C1839666
is_a: HP:0001430 ! Abnormality of the calf musculature

[Term]
id: HP:0003710
name: Exercise-induced muscle cramps
alt_id: HP:0008983
alt_id: HP:0009000
def: "Sudden and involuntary contractions of one or more muscles brought on by physical exertion." [HPO:probinson]
synonym: "Exercise-induced muscle cramping" EXACT layperson []
synonym: "Exercise-induced muscle cramps" EXACT layperson []
synonym: "Muscle cramps following exercise" EXACT layperson []
synonym: "Muscle cramps on exercise" EXACT layperson []
synonym: "Muscle cramps on exertion" EXACT layperson []
synonym: "Muscle cramps with exertion" EXACT layperson []
xref: UMLS:C1855578
is_a: HP:0003394 ! Muscle spasm

[Term]
id: HP:0003712
name: Skeletal muscle hypertrophy
def: "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators]
comment: Increased muscle bulk based on clinical observation.
synonym: "Hypertrophic muscles" EXACT []
synonym: "Increased skeletal muscle cells" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Muscle hypertrophy" EXACT []
synonym: "Muscular hypertrophy" EXACT []
xref: UMLS:C2265792
is_a: HP:0030236 ! Abnormality of muscle size
is_a: HP:0040290 ! Abnormality of skeletal muscles

[Term]
id: HP:0003713
name: Muscle fiber necrosis
alt_id: HP:0003726
def: "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [HPO:curators]
xref: UMLS:C1850848
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0003715
name: Myofibrillar myopathy
def: "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins." [HPO:probinson]
comment: This feature is demonstrated by muscle biopsy.
synonym: "Myofibrillar changes" EXACT []
xref: MSH:C580316
xref: SNOMEDCT_US:699269005
xref: UMLS:C2678065
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0003716
name: Generalized muscular appearance from birth
xref: UMLS:C1837799
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0003717
name: Minimal subcutaneous fat
synonym: "Minimal fat below the skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859442
is_a: HP:0003758 ! Reduced subcutaneous adipose tissue

[Term]
id: HP:0003719
name: Muscle mounding
comment: Transient swelling of muscle induced by percussion.
xref: UMLS:C1853702
is_a: HP:0010548 ! Percussion myotonia

[Term]
id: HP:0003720
name: Generalized muscle hypertrophy
def: "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [HPO:curators]
synonym: "Generalized increase in muscle cell size" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3805639
is_a: HP:0003712 ! Skeletal muscle hypertrophy

[Term]
id: HP:0003722
name: Neck flexor weakness
alt_id: HP:0000469
def: "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators]
synonym: "Neck flexion weakness" EXACT layperson []
synonym: "Neck flexor muscle weakness" EXACT []
xref: UMLS:C1843637
is_a: HP:0000467 ! Neck muscle weakness

[Term]
id: HP:0003724
name: Shoulder girdle muscle atrophy
def: "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators]
synonym: "Shoulder girdle atrophy" EXACT []
synonym: "Shoulder girdle muscle wasting" EXACT layperson []
synonym: "Shoulder-girdle muscle atrophy" EXACT layperson []
xref: UMLS:C1847766
is_a: HP:0003797 ! Limb-girdle muscle atrophy

[Term]
id: HP:0003725
name: Firm muscles
xref: UMLS:C1850656
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0003729
name: Enteroviral dermatomyositis syndrome
xref: UMLS:C3806660
is_a: HP:0002743 ! Recurrent enteroviral infections

[Term]
id: HP:0003730
name: EMG: myotonic runs
def: "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)." [HPO:probinson]
comment: This is a characteristic abnormality seen in the myotonias and periodic paralyses.
synonym: "EMG: spontaneous, repetitive electrical activity" RELATED []
xref: UMLS:C4020837
xref: UMLS:C4025576
is_a: HP:0002486 ! Myotonia

[Term]
id: HP:0003731
name: Quadriceps muscle weakness
def: "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)." [HPO:curators]
synonym: "Quadriceps weakness" EXACT layperson []
xref: SNOMEDCT_US:300948004
xref: UMLS:C0577655
is_a: HP:0008994 ! Proximal muscle weakness in lower limbs

[Term]
id: HP:0003733
name: Thigh hypertrophy
def: "Muscle hypertrophy affecting the thighs." [HPO:probinson]
comment: Proximal lower limb hypertrophy
synonym: "Increased thigh size" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846674
is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities

[Term]
id: HP:0003736
name: Autophagic vacuoles
def: "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue." [HPO:probinson, pmid:17027858]
xref: UMLS:C0544966
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0003737
name: Mitochondrial myopathy
alt_id: HP:0008960
def: "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers." [HPO:probinson]
comment: This is a bundled term that should not be used for future annotations.
xref: MSH:D017240
xref: SNOMEDCT_US:16851005
xref: UMLS:C0162670
is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction

[Term]
id: HP:0003738
name: Exercise-induced myalgia
def: "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:probinson]
synonym: "Exercise-induced muscle pain" EXACT layperson []
synonym: "Muscle pain on exercise" EXACT layperson []
synonym: "Muscle pain with exercise" EXACT layperson []
synonym: "Muscle pain, exercise-induced" EXACT layperson []
xref: UMLS:C1850830
is_a: HP:0003326 ! Myalgia

[Term]
id: HP:0003739
name: Myoclonic spasms
alt_id: HP:0006963
xref: UMLS:C3806442
is_a: HP:0001336 ! Myoclonus

[Term]
id: HP:0003740
name: Myotonia with warm-up phenomenon
def: "Myotonia that occurs after a period of rest and decreases with continuing exercise." [HPO:probinson, pmid:7678441]
xref: UMLS:C4025575
is_a: HP:0002486 ! Myotonia

[Term]
id: HP:0003741
name: Congenital muscular dystrophy
alt_id: HP:0003793
synonym: "Muscular dystrophy, congenital" EXACT []
xref: SNOMEDCT_US:240059009
xref: UMLS:C0699743
is_a: HP:0003560 ! Muscular dystrophy

[Term]
id: HP:0003743
name: Genetic anticipation
def: "A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next." [HPO:probinson]
comment: This mode of inheritance is characteristic of trinucleotide and some other repeat disorders.
xref: MSH:D020132
xref: UMLS:C0600498
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0003744
name: Genetic anticipation with paternal anticipation bias
def: "A type of genetic anticipation observed predominantly upon transmission from affected males." [HPO:probinson]
synonym: "Paternal anticipation bias" RELATED []
xref: UMLS:C1834002
xref: UMLS:C4025574
is_a: HP:0003743 ! Genetic anticipation

[Term]
id: HP:0003745
name: Sporadic
alt_id: HP:0001420
alt_id: HP:0003747
alt_id: HP:0003769
def: "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [HPO:probinson]
synonym: "Isolated cases" EXACT []
synonym: "No previous family history" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1853237
is_a: HP:0000005 ! Mode of inheritance

[Term]
id: HP:0003749
name: Pelvic girdle muscle weakness
alt_id: HP:0003692
alt_id: HP:0008999
alt_id: HP:0009036
def: "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:probinson]
synonym: "Hip girdle muscle weakness" EXACT []
synonym: "Hip girdle weakness" EXACT []
synonym: "Hip-girdle muscle weakness" EXACT []
synonym: "Pelvic girdle weakness" EXACT []
xref: SNOMEDCT_US:249941003
xref: UMLS:C0427064
is_a: HP:0001445 ! Abnormality of the hip-girdle musculature
is_a: HP:0003325 ! Limb-girdle muscle weakness

[Term]
id: HP:0003750
name: Increased muscle fatiguability
def: "An abnormal, increased fatiguability of the musculature." [HPO:curators]
synonym: "Muscle fatigue" RELATED []
xref: MSH:D018763
xref: SNOMEDCT_US:80449002
xref: UMLS:C0242979
xref: UMLS:C4025573
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003752
name: Episodic flaccid weakness
def: "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching." [HPO:probinson]
xref: UMLS:C4025572
is_a: HP:0010547 ! Muscle flaccidity

[Term]
id: HP:0003755
name: Type 1 fibers relatively smaller than type 2 fibers
def: "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers." [HPO:curators]
comment: This feature can only be observed on muscle biopsy.
xref: UMLS:C4025571
is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size

[Term]
id: HP:0003756
name: Skeletal myopathy
xref: SNOMEDCT_US:75047002
xref: UMLS:C1533847
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0003758
name: Reduced subcutaneous adipose tissue
alt_id: HP:0001002
alt_id: HP:0007409
def: "A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness." []
synonym: "Decreased subcutaneous adipose tissue" EXACT []
synonym: "Decreased subcutaneous fat" EXACT []
synonym: "Reduced fat tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Reduced subcutaneous fat" EXACT []
synonym: "Scanty adipose tissue" EXACT []
xref: SNOMEDCT_US:248316006
xref: UMLS:C0424631
xref: UMLS:C1857657
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue
is_a: HP:0040063 ! Decreased adipose tissue

[Term]
id: HP:0003759
name: Hypoplasia of lymphatic vessels
def: "Congenital underdevelopment of lymph vessels." [HPO:probinson]
comment: This feature can be demonstrated by lymphography.
synonym: "Underdeveloped lymphatic vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025570
is_a: HP:0100766 ! Abnormal lymphatic vessel morphology

[Term]
id: HP:0003760
name: Percussion-induced rapid rolling muscle contractions
def: "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle." [HPO:probinson]
xref: UMLS:C4280804
is_a: HP:0010548 ! Percussion myotonia

[Term]
id: HP:0003761
name: Calcinosis
def: "Formation of calcium deposits in any soft tissue." [HPO:probinson]
synonym: "Calcium buildup in soft tissues of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D002114
xref: SNOMEDCT_US:6595006
xref: UMLS:C0006663
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0003762
name: Uterus didelphys
def: "A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis." [HPO:probinson]
synonym: "Double uterus" RELATED layperson []
xref: SNOMEDCT_US:15545001
xref: SNOMEDCT_US:22504001
xref: UMLS:C0152240
xref: UMLS:C0266393
is_a: HP:0031105 ! Abnormal uterus morphology

[Term]
id: HP:0003763
name: Bruxism
def: "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep." [HPO:sdoelken]
synonym: "Teeth grinding" EXACT layperson [ORCID:0000-0002-0736-9199]
xref: MSH:D002012
xref: SNOMEDCT_US:191983006
xref: SNOMEDCT_US:90207007
xref: UMLS:C0006325
is_a: HP:0002360 ! Sleep disturbance

[Term]
id: HP:0003764
name: Nevus
def: "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin." [HPO:probinson]
comment: The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole.
synonym: "Mole" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Naevi" RELATED []
synonym: "Naevus" EXACT []
synonym: "Nevi" RELATED []
xref: MSH:D009506
xref: MSH:D009508
xref: SNOMEDCT_US:21119008
xref: SNOMEDCT_US:400096001
xref: SNOMEDCT_US:51697005
xref: UMLS:C0027960
xref: UMLS:C0027962
is_a: HP:0011355 ! Localized skin lesion

[Term]
id: HP:0003765
name: Psoriasiform dermatitis
def: "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)." [HPO:probinson]
comment: The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations).
synonym: "Psoriasis" EXACT []
xref: MSH:D011565
xref: SNOMEDCT_US:9014002
xref: UMLS:C0033860
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0003768
name: Periodic paralysis
def: "Episodes of muscle weakness." [HPO:probinson]
synonym: "Episodic paralysis" EXACT []
xref: SNOMEDCT_US:198030008
xref: UMLS:C1279412
is_a: HP:0003470 ! Paralysis

[Term]
id: HP:0003771
name: Pulp stones
def: "Multiple punctate calcifications in the dental pulp." [HPO:ibailleulforestier]
synonym: "False denticles" NARROW [ORCID:0000-0001-5889-4463]
synonym: "False pulp stones" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Pulp calcifications" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pulp denticles" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pulp stones" EXACT layperson []
synonym: "True denticles" NARROW [ORCID:0000-0001-5889-4463]
synonym: "True pulp stones" NARROW [ORCID:0000-0001-5889-4463]
xref: MSH:D003784
xref: SNOMEDCT_US:57602001
xref: UMLS:C1527284
xref: UMLS:C4280259
xref: UMLS:C4280546
is_a: HP:0006479 ! Abnormality of the dental pulp

[Term]
id: HP:0003774
name: Stage 5 chronic kidney disease
alt_id: HP:0000101
alt_id: HP:0004720
alt_id: HP:0004725
alt_id: HP:0004733
alt_id: HP:0004738
alt_id: HP:0005570
def: "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine." [HPO:probinson]
comment: Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease.
synonym: "Chronic renal failure" EXACT []
synonym: "End stage renal disease" EXACT []
synonym: "End stage renal failure" EXACT []
synonym: "End-stage renal disease" EXACT []
synonym: "End-stage renal failure" EXACT [HPO:skoehler]
synonym: "Renal failure, endstage" RELATED layperson [HPO:skoehler]
synonym: "Stage 5 chronic kidney disease" EXACT layperson []
xref: SNOMEDCT_US:433146000
xref: UMLS:C2316810
is_a: HP:0012622 ! Chronic kidney disease

[Term]
id: HP:0003777
name: Pili torti
def: "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:probinson]
subset: hposlim_core
synonym: "Flattened and twisted hair" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C562485
xref: SNOMEDCT_US:17170005
xref: UMLS:C0263491
is_a: HP:0003328 ! Abnormal hair laboratory examination

[Term]
id: HP:0003778
name: Short mandibular rami
alt_id: HP:0005447
synonym: "Decreased height of mandibular ramus" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of mandibular ramus" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Short body and ramus of mandible" EXACT []
synonym: "Short mandibular ramus" EXACT []
synonym: "Underdeveloped mandibular rami" EXACT []
xref: UMLS:C1841648
xref: UMLS:C4280545
is_a: HP:0000347 ! Micrognathia
is_a: HP:3000003 ! Abnormal mandibular ramus morphology

[Term]
id: HP:0003779
name: Antegonial notching of mandible
synonym: "Deep antegonial notch of mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large antegonial notch of mandible" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1844509
is_a: HP:0010753 ! Midline defect of mandible

[Term]
id: HP:0003781
name: Excessive salivation
def: "Excessive production of saliva." [HPO:probinson]
synonym: "Excessive production of saliva" EXACT []
synonym: "Excessive salivation" EXACT layperson []
synonym: "Hypersalivation" EXACT []
synonym: "Mouth watering" EXACT layperson []
synonym: "Oversalivation" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Ptyalism" EXACT []
synonym: "Watery mouth" EXACT layperson []
xref: MSH:D012798
xref: SNOMEDCT_US:275295002
xref: SNOMEDCT_US:53827007
xref: SNOMEDCT_US:62718007
xref: UMLS:C0013132
xref: UMLS:C0037036
is_a: HP:0100755 ! Abnormality of salivation

[Term]
id: HP:0003782
name: Eunuchoid habitus
def: "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more)." [HPO:probinson]
xref: UMLS:C4025569
is_a: HP:0004325 ! Decreased body weight

[Term]
id: HP:0003783
name: Externally rotated/abducted legs
xref: UMLS:C1970461
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0003784
name: Type 1 collagen overmodification
xref: UMLS:C1970463
is_a: HP:0011862 ! Abnormal bone collagen fibril morphology

[Term]
id: HP:0003785
name: Decreased CSF homovanillic acid
def: "Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine." [KI:phemming, pmid:12615172]
xref: UMLS:C4280803
is_a: HP:0025454 ! Abnormal CSF metabolite level

[Term]
id: HP:0003787
name: Type 1 and type 2 muscle fiber minicore regions
def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers." [HPO:probinson]
xref: UMLS:C4025568
is_a: HP:0003789 ! Minicore myopathy

[Term]
id: HP:0003789
name: Minicore myopathy
alt_id: HP:0003804
def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers." [HPO:probinson]
xref: MSH:C564969
xref: UMLS:C1850674
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0003791
name: Deposits immunoreactive to beta-amyloid protein
xref: UMLS:C1853934
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0003795
name: Short middle phalanx of toe
def: "Developmental hypoplasia (shortening) of middle phalanx of toe." [HPO:probinson]
synonym: "Short middle bones (feet)" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle phalanges of toes" EXACT []
xref: UMLS:C4021723
is_a: HP:0001831 ! Short toe
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes

[Term]
id: HP:0003796
name: Irregular iliac crest
def: "Irregularity of the iliac crest, which is the superior border of the wing of the ilium." [HPO:curators]
xref: UMLS:C1855180
is_a: HP:0002867 ! Abnormality of the ilium

[Term]
id: HP:0003797
name: Limb-girdle muscle atrophy
def: "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators]
synonym: "Limb-girdle myopathy" BROAD []
synonym: "Wasting of limb-girdle muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1404521
xref: UMLS:C1842552
is_a: HP:0003202 ! Skeletal muscle atrophy
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0003798
name: Nemaline bodies
def: "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, PMID:11333380]
comment: This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with\nMGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23).
synonym: "Nemaline rods" EXACT []
xref: UMLS:C3808039
is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies

[Term]
id: HP:0003799
name: Marked delay in bone age
alt_id: HP:0005742
alt_id: HP:0005843
synonym: "Marked delay in bone age" EXACT layperson []
synonym: "Marked retardation in skeletal maturation" EXACT []
synonym: "Markedly retarded bone age" EXACT layperson []
xref: UMLS:C1868549
is_a: HP:0002750 ! Delayed skeletal maturation

[Term]
id: HP:0003800
name: Muscle abnormality related to mitochondrial dysfunction
xref: UMLS:C4025566
is_a: HP:0003011 ! Abnormality of the musculature

[Term]
id: HP:0003803
name: Type 1 muscle fiber predominance
alt_id: HP:0003721
alt_id: HP:0003807
def: "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:probinson]
comment: This finding is demonstrated by muscle biopsy.
synonym: "Type I muscle fiber predominance" EXACT []
xref: UMLS:C1854387
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0003805
name: Rimmed vacuoles
alt_id: HP:0009029
def: "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions." [HPO:probinson]
comment: Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers.
synonym: "'rimmed vacuoles' on biopsy" EXACT []
synonym: "'rimmed' vacuoles on biopsy" EXACT []
xref: UMLS:C1853932
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0003808
name: Abnormal muscle tone
synonym: "Abnormal muscle tone" EXACT layperson []
xref: UMLS:C0852413
is_a: HP:0011804 ! Abnormal muscle physiology

[Term]
id: HP:0003809
name: Reduced intrathoracic adipose tissue
def: "An abnormally reduced amount of adipose tissue in the thoracic cavity." []
xref: UMLS:C1837797
is_a: HP:0040063 ! Decreased adipose tissue

[Term]
id: HP:0003810
name: Late-onset distal muscle weakness
alt_id: HP:0003728
xref: UMLS:C4025565
is_a: HP:0002460 ! Distal muscle weakness

[Term]
id: HP:0003811
name: Neonatal death
alt_id: HP:0003820
alt_id: HP:0003824
def: "Death within the first 28 days of life." [HPO:probinson]
synonym: "Neonatal lethal" EXACT layperson []
xref: MSH:D066087
xref: SNOMEDCT_US:276506001
xref: UMLS:C0410916
is_a: HP:0011420 ! Age of death

[Term]
id: HP:0003812
name: Phenotypic variability
alt_id: HP:0003813
alt_id: HP:0003815
alt_id: HP:0003821
alt_id: HP:0003822
def: "A variability of phenotypic features." [HPO:probinson]
comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
synonym: "Clinical heterogeneity" EXACT [HPO:skoehler]
synonym: "Highly variable clinical phenotype" EXACT []
synonym: "Highly variable phenotype" EXACT []
synonym: "Highly variable phenotype and severity" EXACT []
synonym: "Highly variable phenotype, even within families" EXACT []
synonym: "Variable phenotype" EXACT []
synonym: "Variable phenotypic severity" EXACT []
xref: UMLS:C1837514
xref: UMLS:C1839039
xref: UMLS:C1850667
xref: UMLS:C1866210
is_a: HP:0012823 ! Clinical modifier

[Term]
id: HP:0003819
name: Death in childhood
alt_id: HP:0001432
alt_id: HP:0004149
def: "Death in during childhood, defined here as between the ages of 2 and 10 years." [HPO:probinson]
comment: previous def was: 'has part' some \n(premature and ('inheres in' some death) and ('has modifier' some abnormal))
synonym: "Death in childhood" EXACT layperson []
xref: UMLS:C1843392
is_a: HP:0011420 ! Age of death

[Term]
id: HP:0003826
name: Stillbirth
alt_id: HP:0001624
alt_id: HP:0001625
def: "Death of the fetus in utero after at least 20 weeks of gestation." [HPO:probinson]
synonym: "Fetal death" RELATED layperson []
synonym: "Stillbirth" EXACT layperson []
synonym: "Stillborn" EXACT layperson []
xref: MSH:D005313
xref: MSH:D050497
xref: SNOMEDCT_US:237364002
xref: SNOMEDCT_US:276507005
xref: UMLS:C0015927
xref: UMLS:C0595939
is_a: HP:0011420 ! Age of death

[Term]
id: HP:0003828
name: Variable expressivity
alt_id: HP:0003814
alt_id: HP:0003825
def: "A variable severity of phenotypic features." [HPO:probinson]
comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
synonym: "Highly variable severity" RELATED [HPO:skoehler]
synonym: "Variable severity" EXACT []
xref: UMLS:C1861403
xref: UMLS:C1866862
is_a: HP:0003812 ! Phenotypic variability

[Term]
id: HP:0003829
name: Incomplete penetrance
alt_id: HP:0003830
def: "A situation in which mutation carriers do not show clinically evident phenotypic abnormalities." [HPO:probinson]
comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
synonym: "Reduced penetrance" EXACT []
xref: UMLS:C1836598
is_a: HP:0003812 ! Phenotypic variability

[Term]
id: HP:0003831
name: Age-dependent penetrance
def: "A situation in which phenotypic abnormalities become evident with age." [HPO:probinson]
synonym: "Age dependent penetrance" EXACT []
xref: UMLS:C1835978
is_a: HP:0003829 ! Incomplete penetrance

[Term]
id: HP:0003832
name: Abnormality of the tibial plateaux
xref: UMLS:C4025564
is_a: HP:0002992 ! Abnormality of tibia morphology

[Term]
id: HP:0003833
name: Laterally deficient tibial plateaux
xref: UMLS:C4025563
is_a: HP:0003832 ! Abnormality of the tibial plateaux

[Term]
id: HP:0003834
name: Shoulder dislocation
def: "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [HPO:curators]
synonym: "Shoulder dislocation" EXACT layperson []
xref: MSH:D012783
xref: SNOMEDCT_US:125615005
xref: SNOMEDCT_US:417076003
xref: UMLS:C0037005
is_a: HP:0003043 ! Abnormality of the shoulder
is_a: HP:0030310 ! Upper extremity joint dislocation

[Term]
id: HP:0003835
name: Shoulder subluxation
def: "A partial dislocation of the shoulder joint." [HPO:curators]
synonym: "Partial shoulder dislocation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:263051004
xref: UMLS:C0434744
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0003836
name: Stippled calcification of the shoulder
xref: UMLS:C4025562
is_a: HP:0003043 ! Abnormality of the shoulder

[Term]
id: HP:0003837
name: Soft-tissue ossification around the shoulders
def: "Formation of calcified tissue in the soft tissues surrounding the shoulder." [HPO:probinson]
synonym: "Calcification of the soft-tissue around the shoulders" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025561
is_a: HP:0011986 ! Ectopic ossification

[Term]
id: HP:0003839
name: Abnormality of upper limb epiphysis morphology
alt_id: HP:0003845
synonym: "Abnormal shape of end part of upper limb long bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality involving the epiphyses of the upper limbs" EXACT []
synonym: "Epihyseal plate abnormality of the upper limbs" EXACT []
xref: UMLS:C4021722
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0006505 ! Abnormality of limb epiphysis morphology

[Term]
id: HP:0003840
name: Delayed upper limb epiphyseal ossification
def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs." [HPO:probinson]
synonym: "Delayed maturation fo the end part of the upper limb bone" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025560
xref: UMLS:C4280544
is_a: HP:0002663 ! Delayed epiphyseal ossification
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology

[Term]
id: HP:0003841
name: Fragmented epiphyses of the upper limbs
synonym: "Fragmented end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025559
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology
is_a: HP:0100168 ! Fragmented epiphyses

[Term]
id: HP:0003842
name: Irregular epiphyses of the upper limbs
synonym: "Irregular end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025558
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology
is_a: HP:0010582 ! Irregular epiphyses

[Term]
id: HP:0003843
name: Round epiphyses of the upper limbs
synonym: "Round end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025557
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology

[Term]
id: HP:0003844
name: Small epiphyses of the upper limbs
synonym: "Small end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025556
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology
is_a: HP:0010585 ! Small epiphyses

[Term]
id: HP:0003846
name: Wide epiphyseal plates of the upper limbs
synonym: "Broad epiphyseal plates of the upper limbs" EXACT []
synonym: "Broad growth plates of upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020913
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology

[Term]
id: HP:0003848
name: Cupped metaphyses of the upper limbs
synonym: "Cupped wide portion of the upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025555
is_a: HP:0003021 ! Metaphyseal cupping
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0003849
name: Flared upper limb metaphysis
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm." [HPO:probinson]
synonym: "Flared metaphyses of the upper limbs" EXACT []
synonym: "Flared wide portion of the upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021721
is_a: HP:0003015 ! Flared metaphysis
is_a: HP:0003856 ! Upper limb metaphyseal widening

[Term]
id: HP:0003850
name: Upper-limb metaphyseal irregularity
synonym: "Irregular metaphyses of the upper limbs" EXACT []
synonym: "Irregular wide portion of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021720
is_a: HP:0003025 ! Metaphyseal irregularity
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0003851
name: Lytic defects in metaphyses of the upper limbs
xref: UMLS:C4025554
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0003852
name: Normal density transverse bands in metaphyses of the upper limbs
xref: UMLS:C4025553
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0003853
name: Sclerosis with transverse striations in metaphyses of the upper limbs
xref: UMLS:C4025552
is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs

[Term]
id: HP:0003854
name: Sclerosis of metaphyses of the upper limbs
synonym: "Increased bone density in wide portion of the upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025551
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0003855
name: Spurred metaphyses of the upper limbs
synonym: "Spurred wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025550
is_a: HP:0005054 ! Metaphyseal spurs
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0003856
name: Upper limb metaphyseal widening
def: "Increased width (breadth) of metaphyses of the arms." [HPO:probinson]
synonym: "Broad wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide/broad metaphyses of the upper limbs" EXACT []
xref: UMLS:C4021719
is_a: HP:0003016 ! Metaphyseal widening
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0003858
name: Cortical diaphyseal irregularity of the upper limbs
xref: UMLS:C4025549
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0003859
name: Cortical diaphyseal thickening of the upper limbs
xref: UMLS:C4025548
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0003860
name: Diaphyseal sclerosis of the upper limbs
def: "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in central part of long bone of upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025547
is_a: HP:0003034 ! Diaphyseal sclerosis
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0003861
name: Broad diaphyses of the upper limbs
synonym: "Broad shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide diaphyses of the upper limbs" EXACT []
synonym: "Wide shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021718
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0003862
name: Absent humerus
def: "Missing humerus bone associated with congenital failure of development." [HPO:probinson]
subset: hposlim_core
synonym: "Absent long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the humerus" EXACT []
synonym: "Aplastic humerus" EXACT []
xref: UMLS:C2678399
is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus

[Term]
id: HP:0003863
name: Angulated humerus
synonym: "Angulated long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025546
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003864
name: Bifid humerus
def: "Clefting affecting the humerus." [HPO:curators]
synonym: "Notched long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025545
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003865
name: Bowed humerus
def: "A bending or abnormal curvature of the humerus." [HPO:probinson]
subset: hposlim_core
synonym: "Bowed long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bowing of the humerus" EXACT []
synonym: "Humeral bowing" EXACT []
xref: UMLS:C1859460
is_a: HP:0006488 ! Bowing of the arm
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003866
name: Coarse humeral trabeculae
xref: UMLS:C4025544
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003867
name: Humeral cortical irregularity
xref: UMLS:C4025543
is_a: HP:0005731 ! Cortical irregularity
is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus

[Term]
id: HP:0003868
name: Humeral cortical thickening
xref: UMLS:C4025542
is_a: HP:0000935 ! Thickened cortex of long bones
is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus

[Term]
id: HP:0003869
name: Humeral cortical thinning
xref: UMLS:C4025541
is_a: HP:0002753 ! Thin bony cortex
is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus

[Term]
id: HP:0003870
name: Crumpled humerus
alt_id: HP:0003873
synonym: "Crumpled long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025540
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003871
name: Deformed humerus
synonym: "Deformed long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025539
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003872
name: Humeral exostoses
def: "Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson]
xref: UMLS:C4025538
is_a: HP:0002762 ! Multiple exostoses
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003874
name: Humerus varus
subset: hposlim_core
xref: UMLS:C4025537
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003875
name: Humeral lytic defects
def: "Destruction of an area of humerus bone due to a disease process, such as cancer." []
comment: Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone.
synonym: "Lytic defects of the humerus" EXACT []
xref: UMLS:C4025536
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003876
name: Osteoporotic humerus
xref: UMLS:C4025535
is_a: HP:0003063 ! Abnormality of the humerus

[Term]
id: HP:0003877
name: Oval transradiancy of humerus
synonym: "Humeral oval transradiancy" EXACT []
xref: UMLS:C4025534
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003878
name: Periosteal new bone of humerus
xref: UMLS:C4025533
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0030314 ! Periostosis

[Term]
id: HP:0003879
name: Humeral pseudarthrosis
synonym: "False joint (long bone in upper arm)" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025532
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003880
name: Sclerotic foci of the humerus
synonym: "Humeral sclerotic foci" EXACT []
xref: UMLS:C4021717
is_a: HP:0003881 ! Humeral sclerosis

[Term]
id: HP:0003881
name: Humeral sclerosis
synonym: "Increased bone density in long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of humerus" EXACT []
xref: UMLS:C4021716
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0006392 ! Increased density of long bones

[Term]
id: HP:0003882
name: Slender humerus
def: "Reduction in diameter of the humerus." [HPO:probinson]
synonym: "Slender long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021851
is_a: HP:0003100 ! Slender long bone
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003883
name: Tapered humerus
synonym: "Tapered long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025531
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003884
name: Triangular humerus
synonym: "Triangular long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025530
is_a: HP:0003063 ! Abnormality of the humerus

[Term]
id: HP:0003885
name: Undermodeled humerus
xref: UMLS:C4025529
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003886
name: Wide humerus
synonym: "Broad humerus" EXACT []
synonym: "Wide long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021715
is_a: HP:0005622 ! Broad long bones
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003887
name: Abnormality of the humeral heads
synonym: "Abnormal head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025528
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003888
name: Flattened humeral heads
synonym: "Flattended head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3808869
is_a: HP:0003887 ! Abnormality of the humeral heads

[Term]
id: HP:0003889
name: Abnormality of the deltoid tuberosities
xref: UMLS:C4025527
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003890
name: Prominent deltoid tuberosities
xref: UMLS:C2674600
is_a: HP:0003889 ! Abnormality of the deltoid tuberosities

[Term]
id: HP:0003891
name: Abnormality of the humeral epiphysis
def: "An anomaly of the humeral epiphysis." [HPO:probinson]
synonym: "Abnormality of end part of the long bone of the upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the humeral epiphyses" EXACT []
xref: UMLS:C4021714
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology

[Term]
id: HP:0003892
name: Absent humeral epiphyseal ossification
def: "Lack of formation of bone in the epiphysis of the humerus." [HPO:probinson]
comment: Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation.
synonym: "Absent maturation of end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent ossification of the humeral epiphyses" EXACT []
xref: UMLS:C4021713
is_a: HP:0003891 ! Abnormality of the humeral epiphysis
is_a: HP:0012791 ! Abnormal humeral ossification

[Term]
id: HP:0003893
name: Advanced ossification of the humeral epiphysis
def: "Ossification of the humeral epiphysis at an earlier age than normal." [HPO:probinson]
synonym: "Accelerated maturation of end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Advanced maturation of the humeral epiphyses" RELATED []
xref: UMLS:C4020836
xref: UMLS:C4025526
is_a: HP:0003891 ! Abnormality of the humeral epiphysis
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0003894
name: Delayed humeral epiphyseal ossification
def: "A delay in the process of formation and maturation of the humeral epiphysis." [HPO:probinson]
synonym: "Delayed maturation of the end part of the long bone in upper arm" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Delayed maturation/delayed ossification of the humeral epiphyses" EXACT []
xref: UMLS:C4021712
xref: UMLS:C4280543
is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification
is_a: HP:0003891 ! Abnormality of the humeral epiphysis

[Term]
id: HP:0003895
name: Flattened humeral epiphyses
synonym: "Flattened end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025525
is_a: HP:0003071 ! Flattened epiphysis
is_a: HP:0003891 ! Abnormality of the humeral epiphysis

[Term]
id: HP:0003896
name: Irregular humeral epiphyses
synonym: "Irregular end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025524
is_a: HP:0003842 ! Irregular epiphyses of the upper limbs
is_a: HP:0003891 ! Abnormality of the humeral epiphysis

[Term]
id: HP:0003897
name: Irregular ossification of the humeral epiphyses
synonym: "Irregular maturation of the end part of the long bone in upper arm" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025523
xref: UMLS:C4280542
is_a: HP:0003891 ! Abnormality of the humeral epiphysis
is_a: HP:0010656 ! Abnormal epiphyseal ossification
is_a: HP:0012791 ! Abnormal humeral ossification

[Term]
id: HP:0003898
name: Large humeral epiphyses
synonym: "Large end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025522
is_a: HP:0003891 ! Abnormality of the humeral epiphysis
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0003899
name: Round humeral epiphyses
synonym: "Round end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025521
is_a: HP:0003843 ! Round epiphyses of the upper limbs
is_a: HP:0003891 ! Abnormality of the humeral epiphysis

[Term]
id: HP:0003900
name: Small humeral epiphyses
synonym: "Small end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025520
is_a: HP:0003844 ! Small epiphyses of the upper limbs
is_a: HP:0003891 ! Abnormality of the humeral epiphysis

[Term]
id: HP:0003901
name: Stippled calcification of the humeral epiphyses
xref: UMLS:C4025519
is_a: HP:0003891 ! Abnormality of the humeral epiphysis

[Term]
id: HP:0003902
name: Epiphyseal stippling of the humerus
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis." [HPO:probinson]
synonym: "Stippled ossification of the humeral epiphyses" EXACT []
xref: UMLS:C4021711
is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses
is_a: HP:0010655 ! Epiphyseal stippling

[Term]
id: HP:0003903
name: Broad humeral epiphyses
def: "Increased width of the humeral epiphysis." [HPO:probinson]
synonym: "Wide end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide humeral epiphyses" EXACT []
xref: UMLS:C4021710
is_a: HP:0003891 ! Abnormality of the humeral epiphysis
is_a: HP:0003904 ! Wide epiphyses of the upper limbs

[Term]
id: HP:0003904
name: Wide epiphyses of the upper limbs
synonym: "Broad epiphyses of the upper limbs" EXACT []
synonym: "Wide end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021709
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0003905
name: Abnormality of the humeral epiphyseal plate
synonym: "Abnormality of arm long bone growth plate" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025518
xref: UMLS:C4280541
is_a: HP:0003891 ! Abnormality of the humeral epiphysis

[Term]
id: HP:0003906
name: Broad humeral epiphyseal plate
def: "Increased width of the humeral epiphyseal growth plate." [HPO:probinson]
synonym: "Wide humeral epiphyseal plate" EXACT []
synonym: "Wide long bone of arm growth plate" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021708
xref: UMLS:C4280540
is_a: HP:0003846 ! Wide epiphyseal plates of the upper limbs
is_a: HP:0003905 ! Abnormality of the humeral epiphyseal plate

[Term]
id: HP:0003907
name: Abnormality of the humeral metaphyses
synonym: "Abnormality of the wide portion of the long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025517
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0003908
name: Corner fracture of metaphysis
def: "Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias." [PMID:15206413, PMID:20544318]
comment: A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure.
synonym: "Bucket handle fracture" EXACT []
synonym: "Metaphyseal corner fracture" EXACT []
xref: UMLS:C4025516
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0003909
name: Cortical subperiosteal resorption of humeral metaphyses
xref: UMLS:C4025515
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003910
name: Enlarged humeral metaphyses
synonym: "Enlarged wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Expanded humeral metaphyses" EXACT []
xref: UMLS:C4021707
is_a: HP:0003051 ! Enlarged metaphyses
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003911
name: Flared humeral metaphysis
alt_id: HP:0003925
def: "Flaring (increase of width with a splayed appearance) of the humeral metaphysis." [HPO:probinson]
synonym: "Flared humerus" RELATED []
synonym: "Flared wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide/broad humeral metaphysis" EXACT []
xref: UMLS:C4020835
xref: UMLS:C4020912
is_a: HP:0003849 ! Flared upper limb metaphysis
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003912
name: Frayed humeral metaphyses
xref: UMLS:C4025514
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003913
name: Humeral metaphyseal irregularity
synonym: "Irregular humeral metaphyses" EXACT []
synonym: "Irregular wide portion of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021706
is_a: HP:0003850 ! Upper-limb metaphyseal irregularity
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003914
name: Irregular ossification of humeral metaphyses
synonym: "Irregular bone maturation of the wide portion of the long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025513
is_a: HP:0003907 ! Abnormality of the humeral metaphyses
is_a: HP:0012791 ! Abnormal humeral ossification

[Term]
id: HP:0003915
name: Lytic defects of the humeral metaphysis
xref: UMLS:C4025512
is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003916
name: Normal-density transverse humeral bands
comment: Normal-density transverse bands of the humerus
xref: UMLS:C4025511
is_a: HP:0003852 ! Normal density transverse bands in metaphyses of the upper limbs
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003917
name: Pointed humeral metaphysis
synonym: "Pointed wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025510
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003918
name: Sclerotic humeral metaphysis
synonym: "Hardening of wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stiffening of wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025509
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003919
name: Sclerotic humeral metaphysis with longitudinal striations
xref: UMLS:C4025508
is_a: HP:0003918 ! Sclerotic humeral metaphysis

[Term]
id: HP:0003920
name: Sloping humeral metaphysis
synonym: "Sloping metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025507
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003921
name: Laterally sloping humeral metaphysis
synonym: "Laterally sloping metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025506
is_a: HP:0003920 ! Sloping humeral metaphysis

[Term]
id: HP:0003922
name: Spurred humeral metaphysis
synonym: "Spurred metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025505
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003923
name: Square humeral metaphysis
synonym: "Square metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025504
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003924
name: Stippled calcification of humeral metaphysis
synonym: "Speckled calcification in metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025503
is_a: HP:0003907 ! Abnormality of the humeral metaphyses

[Term]
id: HP:0003926
name: Abnormality of the humeral diaphysis
def: "An anomaly of the humeral diaphysis." [HPO:probinson]
synonym: "Abnormality of shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025502
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0003927
name: Cortical irregularity of humeral diaphysis
def: "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus." [HPO:curators]
xref: UMLS:C4025501
is_a: HP:0003858 ! Cortical diaphyseal irregularity of the upper limbs
is_a: HP:0003867 ! Humeral cortical irregularity
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003928
name: Cortical thickening of humeral diaphysis
xref: UMLS:C4025500
is_a: HP:0003859 ! Cortical diaphyseal thickening of the upper limbs
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003929
name: Ground glass opacity of humeral diaphysis
xref: UMLS:C4025499
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003930
name: Lytic defects of humeral diaphysis
synonym: "Humeral diaphyseal lysis" EXACT []
xref: UMLS:C4021705
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003931
name: Periosteal new bone of humeral diaphysis
xref: UMLS:C4025498
is_a: HP:0003926 ! Abnormality of the humeral diaphysis
is_a: HP:0030314 ! Periostosis

[Term]
id: HP:0003932
name: Sclerotic foci of humeral diaphysis
xref: UMLS:C4025497
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003933
name: Sclerosis of humeral diaphysis
synonym: "Increased bone density in shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025496
is_a: HP:0003860 ! Diaphyseal sclerosis of the upper limbs
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003934
name: Slender humeral diaphysis
synonym: "Slender shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025495
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003935
name: Wide humeral diaphysis
def: "Increased width of the humeral diaphysis." [HPO:probinson]
synonym: "Broad humeral diaphysis" EXACT []
synonym: "Broad shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021704
is_a: HP:0003861 ! Broad diaphyses of the upper limbs
is_a: HP:0003926 ! Abnormality of the humeral diaphysis

[Term]
id: HP:0003938
name: Synostosis involving the elbow
synonym: "Bone fusion involving the elbow" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025494
is_a: HP:0009811 ! Abnormality of the elbow
is_a: HP:0100238 ! Synostosis involving bones of the upper limbs

[Term]
id: HP:0003939
name: Humeroulnar synostosis
def: "An abnormal osseous union (fusion) between the ulna and the humerus." [HPO:curators]
synonym: "Humeral ulnar synostosis" EXACT []
xref: SNOMEDCT_US:205330003
xref: UMLS:C0431799
is_a: HP:0003938 ! Synostosis involving the elbow
is_a: HP:0100745 ! Abnormality of the humeroulnar joint

[Term]
id: HP:0003940
name: Osteoarthritis of the elbow
xref: SNOMEDCT_US:239866002
xref: UMLS:C0409954
is_a: HP:0002758 ! Osteoarthritis
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003941
name: Stippled calcification of the elbow
xref: UMLS:C4025493
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003942
name: Synovial chondromatosis of the elbow
xref: UMLS:C4025492
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003943
name: Abnormality of the joint spaces of the elbow
synonym: "Abnormality of the joint spaces of the elbow" EXACT layperson []
xref: UMLS:C4025491
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003944
name: Narrow joint spaces of the elbow
synonym: "Narrow joint spaces of the elbow" EXACT layperson []
xref: UMLS:C4025490
is_a: HP:0003943 ! Abnormality of the joint spaces of the elbow

[Term]
id: HP:0003945
name: Irregular articular surfaces of the elbow joints
xref: UMLS:C4025489
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003946
name: Abnormality of the epiphyses of the elbow
synonym: "Abnormality of end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025488
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003947
name: Delayed elbow epiphyseal ossification
def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow." [HPO:probinson]
synonym: "Delayed maturation of the end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025487
is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow

[Term]
id: HP:0003948
name: Irregular epiphyses of the elbow
synonym: "Irregular end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025486
is_a: HP:0003842 ! Irregular epiphyses of the upper limbs
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow

[Term]
id: HP:0003949
name: Abnormality of the elbow metaphyses
synonym: "Abnormal wide portion of elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025485
is_a: HP:0009809 ! Abnormality of upper limb metaphysis
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0003950
name: Flared elbow metaphyses
synonym: "Flared wide portion of elbow bone" EXACT layperson []
xref: UMLS:C4025484
is_a: HP:0003849 ! Flared upper limb metaphysis
is_a: HP:0003949 ! Abnormality of the elbow metaphyses

[Term]
id: HP:0003951
name: Distal humeral metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow)." [HPO:probinson]
synonym: "Irregular metaphyses of elbow" EXACT []
synonym: "Irregular wide portion of elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021703
is_a: HP:0003913 ! Humeral metaphyseal irregularity
is_a: HP:0003949 ! Abnormality of the elbow metaphyses

[Term]
id: HP:0003952
name: Sclerotic foci of metaphyses of the elbow
synonym: "Vertical linear mixed lucent and sclerotic pattern of metaphyses" EXACT []
xref: UMLS:C4021702
is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs
is_a: HP:0003949 ! Abnormality of the elbow metaphyses

[Term]
id: HP:0003953
name: Absent forearm bone
def: "Absence of one or more forearm bones associated with congenital failure of development." [HPO:probinson]
synonym: "Absent forearm bone" EXACT layperson []
synonym: "Aplasia of the forearm bones" EXACT []
xref: UMLS:C4021701
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones

[Term]
id: HP:0003954
name: Angulated forearm bones
synonym: "Angulated forearm bones" EXACT layperson []
xref: UMLS:C4025483
is_a: HP:0040073 ! Abnormal forearm bone morphology

[Term]
id: HP:0003955
name: Bone-in-a-bone appearance of forearm
def: "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography." [HPO:probinson]
synonym: "Bone-in-a-bone appearance of forearm" EXACT layperson []
xref: UMLS:C4025482
is_a: HP:0002973 ! Abnormality of the forearm

[Term]
id: HP:0003956
name: Bowed forearm bones
def: "A bending or abnormal curvature affecting either the radius, the ulna, or both." [HPO:probinson]
synonym: "Bowed forearm bones" EXACT layperson []
xref: UMLS:C4025481
is_a: HP:0006488 ! Bowing of the arm
is_a: HP:0040073 ! Abnormal forearm bone morphology

[Term]
id: HP:0003957
name: Cortical thickening of the forearm bones
xref: UMLS:C4021842
is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0003958
name: Cross-fusion of the forearm bones
xref: UMLS:C4025480
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0003959
name: Deformed forearm bones
synonym: "Deformed forearm bones" EXACT layperson []
xref: UMLS:C4025479
is_a: HP:0040073 ! Abnormal forearm bone morphology

[Term]
id: HP:0003960
name: Exostoses of the forearm bones
xref: UMLS:C4025478
is_a: HP:0040072 ! Abnormality of forearm bone
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0003961
name: Fractured forearm bones
synonym: "Fractured forearm bones" EXACT layperson []
xref: UMLS:C4025477
is_a: HP:0003330 ! Abnormal bone structure
is_a: HP:0040073 ! Abnormal forearm bone morphology

[Term]
id: HP:0003963
name: Lytic defects of the forearm bones
xref: UMLS:C4025476
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0003964
name: Osteoporotic forearm bones
xref: UMLS:C4025475
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0003965
name: Pseudarthrosis of the forearm bones
xref: UMLS:C4025474
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0003966
name: Sclerotic foci in forearm bones
xref: UMLS:C4025473
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0003967
name: Sclerotic forearm bones
synonym: "Increased bone density of forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025472
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0003969
name: Slender forearm bones
xref: UMLS:C4025471
is_a: HP:0040073 ! Abnormal forearm bone morphology

[Term]
id: HP:0003970
name: Undermodelled forearm bones
xref: UMLS:C4025470
is_a: HP:0040072 ! Abnormality of forearm bone

[Term]
id: HP:0003971
name: Broad forearm bones
def: "Abnormally wide bone of the skeleton of forearm." [HPO:probinson]
synonym: "Broad forearm bones" EXACT layperson []
synonym: "Wide forearm bones" EXACT layperson []
xref: UMLS:C4021700
is_a: HP:0040073 ! Abnormal forearm bone morphology

[Term]
id: HP:0003973
name: Wide radioulnar joints
synonym: "Broad radioulnar joints" EXACT []
xref: UMLS:C4021699
is_a: HP:0003037 ! Enlarged joints
is_a: HP:0003059 ! Abnormality of the radioulnar joints

[Term]
id: HP:0003974
name: Absent radius
alt_id: HP:0002819
alt_id: HP:0005012
def: "Missing radius bone associated with congenital failure of development." [HPO:probinson]
subset: hposlim_core
synonym: "absence of radius and ulna" EXACT []
synonym: "Absent ossification/absence of radius" EXACT []
synonym: "Aplasia of the radius" EXACT []
synonym: "Missing outer large bone of forearm" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Radial aplasia" EXACT []
xref: UMLS:C1405984
xref: UMLS:C1838608
xref: UMLS:C1849314
is_a: HP:0003953 ! Absent forearm bone
is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius
is_a: HP:0009822 ! Aplasia involving forearm bones

[Term]
id: HP:0003975
name: obsolete Chevron-shaped/cone-shaped radius
is_obsolete: true
replaced_by: HP:0004000

[Term]
id: HP:0003976
name: Constricted radius
xref: UMLS:C4025468
is_a: HP:0003330 ! Abnormal bone structure
is_a: HP:0045009 ! Abnormal morphology of the radius

[Term]
id: HP:0003977
name: Deformed radius
alt_id: HP:0005046
xref: UMLS:C4025467
is_a: HP:0003959 ! Deformed forearm bones
is_a: HP:0045009 ! Abnormal morphology of the radius

[Term]
id: HP:0003978
name: Fractured radius
xref: MSH:D011885
xref: SNOMEDCT_US:12676007
xref: UMLS:C0034628
is_a: HP:0003084 ! Fractures of the long bones
is_a: HP:0003961 ! Fractured forearm bones
is_a: HP:0045009 ! Abnormal morphology of the radius

[Term]
id: HP:0003979
name: Lytic defects of the radius
xref: UMLS:C4021841
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0003963 ! Lytic defects of the forearm bones

[Term]
id: HP:0003980
name: Pseudarthrosis of the radius
xref: UMLS:C4025466
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0003965 ! Pseudarthrosis of the forearm bones

[Term]
id: HP:0003981
name: Broad radius
def: "Increased width of the radius." [HPO:probinson]
synonym: "Wide radius" EXACT []
xref: UMLS:C4021698
is_a: HP:0003971 ! Broad forearm bones
is_a: HP:0005622 ! Broad long bones
is_a: HP:0045009 ! Abnormal morphology of the radius

[Term]
id: HP:0003982
name: Aplasia of the ulna
def: "Missing ulna bone associated with congenital failure of development." [HPO:probinson]
subset: hposlim_core
synonym: "Absent ossification/absent ulna" EXACT []
synonym: "Absent ulna" EXACT []
synonym: "Absent ulnae" RELATED [HPO:skoehler]
xref: UMLS:C2678397
is_a: HP:0003953 ! Absent forearm bone
is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna
is_a: HP:0009822 ! Aplasia involving forearm bones

[Term]
id: HP:0003984
name: Posteriorly dislocated ulna
xref: UMLS:C4025465
is_a: HP:0002997 ! Abnormality of the ulna

[Term]
id: HP:0003985
name: Exostoses of the ulna
xref: UMLS:C4025464
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0003960 ! Exostoses of the forearm bones

[Term]
id: HP:0003986
name: Exostoses of the radius
xref: UMLS:C4025463
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0003960 ! Exostoses of the forearm bones

[Term]
id: HP:0003987
name: Fractured ulna
xref: MSH:D014458
xref: SNOMEDCT_US:54556006
xref: UMLS:C0041601
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0003084 ! Fractures of the long bones
is_a: HP:0003961 ! Fractured forearm bones

[Term]
id: HP:0003988
name: Long ulna
alt_id: HP:0006435
def: "Increased length of the ulna." [HPO:probinson]
subset: hposlim_core
synonym: "Disproportionately long ulnae" EXACT []
xref: UMLS:C1848108
is_a: HP:0002997 ! Abnormality of the ulna

[Term]
id: HP:0003989
name: Notched ulna
xref: UMLS:C4025462
is_a: HP:0002997 ! Abnormality of the ulna

[Term]
id: HP:0003990
name: Pointed ulna
xref: UMLS:C4025461
is_a: HP:0002997 ! Abnormality of the ulna

[Term]
id: HP:0003991
name: Osteosclerosis of the ulna
def: "Osteosclerosis (increased density related to increased bone mass) of the ulna." [HPO:curators]
synonym: "Sclerotic ulna" EXACT []
xref: UMLS:C4021697
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0003967 ! Sclerotic forearm bones
is_a: HP:0006392 ! Increased density of long bones

[Term]
id: HP:0003992
name: Slender ulna
def: "Reduction in diameter of the ulna." [HPO:probinson]
xref: UMLS:C1968814
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0003100 ! Slender long bone
is_a: HP:0003969 ! Slender forearm bones

[Term]
id: HP:0003993
name: Broad ulna
alt_id: HP:0200081
def: "Increased width of the ulna." [HPO:probinson]
synonym: "Wide ulna" RELATED []
xref: UMLS:C4020692
xref: UMLS:C4025460
is_a: HP:0003971 ! Broad forearm bones
is_a: HP:0005622 ! Broad long bones
is_a: HP:0040071 ! Abnormal morphology of ulna

[Term]
id: HP:0003994
name: Dislocated wrist
alt_id: HP:0004992
def: "An injury of the wrist with displacement of any of the eight carpal bones." [HPO:probinson]
synonym: "Dislocated wrist" EXACT layperson []
synonym: "Dislocations of the wrists" EXACT layperson []
xref: MEDDRA:10013184 "Dislocation of wrist"
xref: SNOMEDCT_US:125618007
xref: UMLS:C0159941
is_a: HP:0003019 ! Abnormality of the wrist
is_a: HP:0030310 ! Upper extremity joint dislocation

[Term]
id: HP:0003995
name: Abnormality of the radial head
synonym: "Deformity of radial heads" EXACT []
xref: UMLS:C4021696
is_a: HP:0002818 ! Abnormality of the radius

[Term]
id: HP:0003996
name: Flattened radial head
xref: UMLS:C4025459
is_a: HP:0003995 ! Abnormality of the radial head

[Term]
id: HP:0003997
name: Hypoplastic radial head
synonym: "Small radial head" EXACT []
xref: UMLS:C4021695
is_a: HP:0003995 ! Abnormality of the radial head

[Term]
id: HP:0003998
name: Constricted radial neck
xref: UMLS:C4025458
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0003999
name: Abnormality of radial epiphyses
alt_id: HP:0004011
synonym: "Abnormality of radial epiphyseal plates" EXACT []
xref: UMLS:C4021694
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology

[Term]
id: HP:0004000
name: Cone-shaped distal radial epiphysis
alt_id: HP:0003975
def: "The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance." []
comment: The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous.
synonym: "Chevron-shaped distal radial epiphysis" EXACT []
xref: UMLS:C4025457
is_a: HP:0003999 ! Abnormality of radial epiphyses
is_a: HP:0010579 ! Cone-shaped epiphysis

[Term]
id: HP:0004001
name: Medially deficient radial epiphyses
xref: UMLS:C4025456
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004002
name: Flattened radial epiphyses
xref: UMLS:C4025455
is_a: HP:0003071 ! Flattened epiphysis
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004003
name: Medially flattened radial epiphyses
xref: UMLS:C4025454
is_a: HP:0004002 ! Flattened radial epiphyses

[Term]
id: HP:0004004
name: Irregular radial epiphyses
xref: UMLS:C4025453
is_a: HP:0003999 ! Abnormality of radial epiphyses
is_a: HP:0010582 ! Irregular epiphyses

[Term]
id: HP:0004005
name: Large radial epiphyses
xref: UMLS:C4025452
is_a: HP:0003999 ! Abnormality of radial epiphyses
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0004006
name: Round radial epiphyses
xref: UMLS:C4025451
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004007
name: Sclerotic radial epiphyses
xref: UMLS:C4025450
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004008
name: Sloping radial epiphyses
xref: UMLS:C4025449
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004009
name: Medially sloping radial epiphyses
xref: UMLS:C4025448
is_a: HP:0004008 ! Sloping radial epiphyses

[Term]
id: HP:0004010
name: Small radial epiphyses
xref: UMLS:C4025447
is_a: HP:0003999 ! Abnormality of radial epiphyses
is_a: HP:0010585 ! Small epiphyses

[Term]
id: HP:0004012
name: Premature fusion of the radial epiphyseal plates
def: "A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone." [HPO:sdoelken]
comment: The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis).
xref: UMLS:C4025446
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004013
name: Medially fused radial epiphyseal plates
xref: UMLS:C4025445
is_a: HP:0004012 ! Premature fusion of the radial epiphyseal plates

[Term]
id: HP:0004014
name: Broad radial epiphyseal plate
def: "Abnormal increase in width of the epiphyseal growth plate of the radius." [HPO:probinson]
synonym: "Wide radial epiphyseal plates" EXACT []
xref: UMLS:C4021693
is_a: HP:0003999 ! Abnormality of radial epiphyses

[Term]
id: HP:0004015
name: Abnormality of radial metaphyses
xref: UMLS:C4025444
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0004016
name: Cupped radial metaphyses
xref: UMLS:C4025443
is_a: HP:0003848 ! Cupped metaphyses of the upper limbs
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004017
name: Exostoses of the radial metaphysis
xref: UMLS:C4025442
is_a: HP:0003986 ! Exostoses of the radius
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004018
name: Flared radial metaphysis
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the radius." [HPO:probinson]
synonym: "Broadening of the distal radius" RELATED []
xref: UMLS:C4025441
is_a: HP:0003849 ! Flared upper limb metaphysis
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004019
name: Radial metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the metaphysis of the radius." [HPO:probinson]
synonym: "Irregular radial metaphysis" EXACT []
xref: UMLS:C4021692
is_a: HP:0003850 ! Upper-limb metaphyseal irregularity
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004020
name: Irregular ossification of the radial metaphysis
xref: UMLS:C4025440
is_a: HP:0003336 ! Abnormal enchondral ossification
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004021
name: Lytic defects of radial metaphysis
xref: UMLS:C4025439
is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004022
name: Sclerotic radial metaphysis with longitudinal striations
xref: UMLS:C4025438
is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004023
name: Sloping radial metaphysis
xref: UMLS:C4025437
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004024
name: Medially sloping radial metaphysis
xref: UMLS:C4025436
is_a: HP:0004023 ! Sloping radial metaphysis

[Term]
id: HP:0004025
name: Spurred radial metaphysis
xref: UMLS:C4025435
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004026
name: Broad radial metaphysis
def: "Increase in width (breadth) of the radial metaphysis." [HPO:probinson]
synonym: "Wide radial metaphysis" EXACT []
xref: UMLS:C4021691
is_a: HP:0003856 ! Upper limb metaphyseal widening
is_a: HP:0003981 ! Broad radius
is_a: HP:0004015 ! Abnormality of radial metaphyses

[Term]
id: HP:0004027
name: Abnormality of radial diaphysis
def: "An anomaly of the radial diaphysis." [HPO:probinson]
xref: UMLS:C4025434
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses

[Term]
id: HP:0004028
name: Spurs of radial diaphysis
xref: UMLS:C4025433
is_a: HP:0004027 ! Abnormality of radial diaphysis

[Term]
id: HP:0004029
name: Lytic defects of radial diaphysis
xref: UMLS:C4025432
is_a: HP:0004027 ! Abnormality of radial diaphysis

[Term]
id: HP:0004030
name: Patchy sclerosis of radial diaphysis
xref: UMLS:C4025431
is_a: HP:0004027 ! Abnormality of radial diaphysis

[Term]
id: HP:0004031
name: Broad radial diaphysis
def: "Increase in width of the diaphysis of radius." [HPO:probinson]
comment: Increased diameter of the shaft (diaphysis) of the radius.
synonym: "Wide radial diaphysis" EXACT []
xref: UMLS:C4021690
is_a: HP:0004027 ! Abnormality of radial diaphysis

[Term]
id: HP:0004032
name: Abnormality of the olecranon
xref: UMLS:C4025430
is_a: HP:0002997 ! Abnormality of the ulna

[Term]
id: HP:0004033
name: Curved olecranon
xref: UMLS:C4025429
is_a: HP:0004032 ! Abnormality of the olecranon

[Term]
id: HP:0004034
name: Irregular olecranon
xref: UMLS:C4025428
is_a: HP:0004032 ! Abnormality of the olecranon

[Term]
id: HP:0004035
name: Abnormality of the styloid process of ulna
xref: UMLS:C4025427
is_a: HP:0004037 ! Abnormality of the ulnar epiphyses

[Term]
id: HP:0004036
name: Long styloid process of ulna
xref: UMLS:C4025426
is_a: HP:0004035 ! Abnormality of the styloid process of ulna

[Term]
id: HP:0004037
name: Abnormality of the ulnar epiphyses
synonym: "Abnormality of the epiphyseal plate of the ulna" EXACT []
xref: UMLS:C4021689
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology

[Term]
id: HP:0004038
name: Bony spicule of ulnar epiphyseal plate
xref: UMLS:C4025425
is_a: HP:0004037 ! Abnormality of the ulnar epiphyses

[Term]
id: HP:0004039
name: Abnormality of ulnar metaphysis
xref: UMLS:C4025424
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0009809 ! Abnormality of upper limb metaphysis

[Term]
id: HP:0004040
name: Corner fragments of ulnar metaphysis
xref: UMLS:C4025423
is_a: HP:0004039 ! Abnormality of ulnar metaphysis

[Term]
id: HP:0004041
name: Cupped ulnar metaphysis
xref: UMLS:C4025422
is_a: HP:0004039 ! Abnormality of ulnar metaphysis

[Term]
id: HP:0004042
name: Ulnar metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the metaphysis of the ulna." [HPO:probinson]
synonym: "Irregular ulnar metaphysis" EXACT []
xref: UMLS:C4021688
is_a: HP:0003850 ! Upper-limb metaphyseal irregularity
is_a: HP:0004039 ! Abnormality of ulnar metaphysis

[Term]
id: HP:0004043
name: Lytic defects of ulnar metaphysis
xref: UMLS:C4025421
is_a: HP:0004039 ! Abnormality of ulnar metaphysis
is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs

[Term]
id: HP:0004044
name: Pointed ulnar metaphysis
xref: UMLS:C4025420
is_a: HP:0004039 ! Abnormality of ulnar metaphysis

[Term]
id: HP:0004045
name: Sloping ulnar metaphysis
def: "A sloped configuration of the metaphysis (shaft) of the ulna." [HPO:curators]
xref: UMLS:C4025419
is_a: HP:0004039 ! Abnormality of ulnar metaphysis

[Term]
id: HP:0004046
name: Spurred ulnar metaphysis
xref: UMLS:C4025418
is_a: HP:0003855 ! Spurred metaphyses of the upper limbs
is_a: HP:0004039 ! Abnormality of ulnar metaphysis

[Term]
id: HP:0004047
name: Wide ulnar metaphysis
def: "Increase in width (breadth) of the ulnar metaphysis." [HPO:probinson]
synonym: "Broad ulnar metaphysis" EXACT []
xref: UMLS:C4021687
is_a: HP:0003856 ! Upper limb metaphyseal widening
is_a: HP:0004039 ! Abnormality of ulnar metaphysis

[Term]
id: HP:0004048
name: Narrow joint spaces of wrist
xref: UMLS:C4025417
is_a: HP:0003019 ! Abnormality of the wrist

[Term]
id: HP:0004049
name: Decreased carpal angles of wrist
xref: UMLS:C4025416
is_a: HP:0003019 ! Abnormality of the wrist

[Term]
id: HP:0004050
name: Absent hand
def: "The total absence of the hand, with no bony elements distal to the radius or ulna." [pmid:19125433]
subset: hposlim_core
synonym: "Absent hand" EXACT layperson []
synonym: "Acheiria" EXACT []
xref: SNOMEDCT_US:371199008
xref: UMLS:C0265594
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand

[Term]
id: HP:0004051
name: Advanced ossification of the hand bones
def: "Ossification of hand bones at an earlier age than normal." [HPO:probinson]
synonym: "Accelerated maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Advanced maturation of the hand bones" RELATED []
xref: UMLS:C4020834
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004052
name: Delayed ossification of the hand bones
def: "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms." [HPO:probinson]
synonym: "Delay maturation/delayed ossification of the hand" EXACT []
synonym: "Delayed maturation of the hand bones" RELATED layperson []
xref: UMLS:C4020833
xref: UMLS:C4021686
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004053
name: Dysharmonic maturation of the hand bones
alt_id: HP:0006204
def: "Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand." [HPO:probinson]
synonym: "Disharmonic maturation of the hand bones" EXACT []
synonym: "Dysharmonic ossification of the hand bones" EXACT []
xref: UMLS:C4021685
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004054
name: Sclerosis of hand bone
alt_id: HP:0004055
def: "Osteosclerosis affecting one or more bones of the hand." [HPO:probinson]
synonym: "Generalized sclerosis of hand bones" EXACT []
synonym: "Hand bone sclerosis" EXACT []
synonym: "Increased bone density in hand bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021684
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0004057
name: Mitten deformity
def: "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity." [HPO:probinson, pmid:20301304]
comment: Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly.
synonym: "Pseudosyndactyly" EXACT []
xref: UMLS:C1969236
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004058
name: Hand monodactyly
xref: UMLS:C4025415
is_a: HP:0001180 ! Hand oligodactyly

[Term]
id: HP:0004059
name: Radial club hand
def: "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius." [HPO:probinson]
synonym: "Radial dysplasia" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025414
is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius
is_a: HP:0009486 ! Radial deviation of the hand

[Term]
id: HP:0004060
name: Trident hand
def: "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits." [HPO:probinson]
comment: This abnormality is often seen in patients with achondroplasia.
subset: hposlim_core
synonym: "trident abnormality" EXACT []
synonym: "trident deformity" EXACT []
xref: SNOMEDCT_US:249755001
xref: UMLS:C0426874
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0004066
name: obsolete Laterally deviated thumb phalanges
is_obsolete: true
consider: HP:0009602

[Term]
id: HP:0004083
name: obsolete Laterally deviated terminal thumb phalanx
is_obsolete: true
consider: HP:0005895

[Term]
id: HP:0004090
name: obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis
is_obsolete: true
consider: HP:0009662

[Term]
id: HP:0004095
name: Curved fingers
synonym: "Curved fingers" EXACT layperson []
xref: UMLS:C4025413
is_a: HP:0001167 ! Abnormality of finger
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004097
name: Deviation of finger
alt_id: HP:0006229
def: "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [HPO:curators]
synonym: "Atypical position of finger" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Deviated fingers" EXACT []
synonym: "Finger pointing in a different direction than usual" EXACT layperson []
xref: SNOMEDCT_US:203556007
xref: SNOMEDCT_US:26517000
xref: UMLS:C0410740
is_a: HP:0001167 ! Abnormality of finger
is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand

[Term]
id: HP:0004099
name: Macrodactyly
def: "Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit." [pmid:19125433]
comment: There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width.
subset: hposlim_core
synonym: "Finger overgrowth" EXACT layperson [HPO:sdoelken]
synonym: "Megalodactyly" EXACT []
xref: MEDDRA:10025386 "Macrodactyly"
xref: MSH:C562546
xref: SNOMEDCT_US:48449000
xref: UMLS:C0265552
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0004100
name: Abnormal 2nd finger morphology
def: "An anomaly of the second finger, also known as the index finger." [HPO:probinson]
synonym: "Abnormality of index finger" EXACT layperson []
synonym: "Abnormality of the 2nd finger" EXACT []
xref: UMLS:C4021683
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0004110
name: obsolete Radially deviated index finger phalanges
is_obsolete: true
consider: HP:0009542

[Term]
id: HP:0004112
name: Midline nasal groove
def: "An abnormal groove on the midline of the nose that may extend to the nasal tip." [HPO:sdoelken]
synonym: "Central nasal groove" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Midline nasal groove" EXACT layperson []
xref: UMLS:C4025412
is_a: HP:0004122 ! Midline defect of the nose
created_by: peter
creation_date: 2009-01-21T04:59:08Z

[Term]
id: HP:0004121
name: obsolete Radially displaced proximal index finger phalanx
is_obsolete: true
consider: HP:0009544

[Term]
id: HP:0004122
name: Midline defect of the nose
alt_id: HP:0003190
def: "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:sdoelken]
synonym: "Central cleft of nose" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Central defect of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Central nasal defect" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Midline cleft of nose" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Midline defect of the nose" EXACT layperson []
synonym: "Midline nasal defect" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025411
xref: UMLS:C4280539
is_a: HP:0005105 ! Abnormal nasal morphology
created_by: peter
creation_date: 2009-01-21T04:59:54Z

[Term]
id: HP:0004132
name: Dimple on nasal tip
def: "An abnormal indentation of the skin in the region of the nasal tip." [HPO:sdoelken]
synonym: "Dimple on nasal tip" EXACT layperson []
synonym: "Dimpled tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1863349
is_a: HP:0000436 ! Abnormality of the nasal tip
created_by: peter
creation_date: 2009-01-21T05:05:55Z

[Term]
id: HP:0004138
name: obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger
is_obsolete: true
consider: HP:0009541

[Term]
id: HP:0004139
name: obsolete Flared metaphysis of middle phalanx of index finger
is_obsolete: true
consider: HP:0009569

[Term]
id: HP:0004143
name: obsolete Radially deviated terminal index finger phalanx
is_obsolete: true
consider: HP:0009542

[Term]
id: HP:0004144
name: obsolete Duplication of terminal index finger phalanx
is_obsolete: true
replaced_by: HP:0009948

[Term]
id: HP:0004150
name: Abnormal 3rd finger morphology
def: "An anomaly of the third finger." [HPO:probinson]
synonym: "Abnormality of the 3rd finger" EXACT []
synonym: "Abnormality of the middle finger" EXACT []
xref: UMLS:C4021682
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0004153
name: obsolete Overgrowth of middle finger
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004157
name: obsolete Accessory middle-finger phalanges
is_obsolete: true
replaced_by: HP:0009963

[Term]
id: HP:0004161
name: obsolete Periosteal new bone of middle finger phalanges
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004162
name: obsolete Radially pointed middle finger phalanges
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004168
name: obsolete Radially pointed proximal middle-finger phalanx
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004172
name: Abnormality of the middle phalanx of the 3rd finger
synonym: "Abnormal middle finger bone of the middle finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025410
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology

[Term]
id: HP:0004174
name: obsolete Accessory middle phalanx of middle finger
is_obsolete: true
replaced_by: HP:0009963

[Term]
id: HP:0004175
name: obsolete Periosteal new bone of middle phalanx of middle-finger
is_obsolete: true
consider: HP:0004172

[Term]
id: HP:0004180
name: Short distal phalanx of the 3rd finger
alt_id: HP:0004182
def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger." [HPO:sdoelken]
synonym: "Hypoplastic/small distal phalanx of the 3rd finger" EXACT []
synonym: "Short distal phalanx of the third finger" EXACT []
synonym: "Short outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short terminal phalanx of middle finger" EXACT []
xref: UMLS:C4021681
is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
is_a: HP:0009461 ! Short 3rd finger
is_a: HP:0009882 ! Short distal phalanx of finger

[Term]
id: HP:0004183
name: obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009357

[Term]
id: HP:0004184
name: obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009423

[Term]
id: HP:0004185
name: obsolete Fused epiphysis of terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004186
name: obsolete Large epiphysis of terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004187
name: obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger
is_obsolete: true
consider: HP:0009316

[Term]
id: HP:0004188
name: Abnormal 4th finger morphology
synonym: "Abnormality of the 4th finger" EXACT []
synonym: "Abnormality of the ring finger" EXACT []
xref: UMLS:C4021680
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0004192
name: obsolete Bracket epiphyses of the 4th finger
is_obsolete: true
replaced_by: HP:0009394

[Term]
id: HP:0004193
name: obsolete Expanded phalanges of the ring finger
is_obsolete: true
consider: HP:0009172

[Term]
id: HP:0004194
name: obsolete Hypoplastic phalanges of the ring finger
is_obsolete: true
consider: HP:0009408

[Term]
id: HP:0004195
name: Osteolytic defects of the phalanges of the 4th finger
def: "Osteolytic defects of the phalanges of the 4th (ring) finger." [HPO:curators]
synonym: "Lytic defects of the phalanges of the ring finger" RELATED []
xref: UMLS:C4020832
xref: UMLS:C4025409
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand

[Term]
id: HP:0004196
name: obsolete Short phalanges of the ring finger
is_obsolete: true
consider: HP:0009408

[Term]
id: HP:0004197
name: Symphalangism of the 4th finger
def: "Fusion of two or more bones of the 4th finger." [HPO:curators]
synonym: "Fused ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the ring finger" EXACT []
xref: UMLS:C4021679
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand

[Term]
id: HP:0004198
name: obsolete Wide/broad phalanges of the ring finger
is_obsolete: true
consider: HP:0009172

[Term]
id: HP:0004201
name: obsolete Expanded proximal phalanx of the ring finger
is_obsolete: true
replaced_by: HP:0009310

[Term]
id: HP:0004202
name: obsolete Lytic defects of the proximal phalanx of the ring finger
is_obsolete: true
replaced_by: HP:0009312

[Term]
id: HP:0004203
name: obsolete Short proximal phalanx of the ring finger
is_obsolete: true
replaced_by: HP:0009300

[Term]
id: HP:0004207
name: Abnormal 5th finger morphology
def: "An abnormality affecting one or both 5th fingers." [HPO:sdoelken]
synonym: "Abnormality of the 5th finger" EXACT []
synonym: "Abnormality of the little finger" EXACT layperson []
synonym: "Abnormality of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021678
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0004209
name: Clinodactyly of the 5th finger
alt_id: HP:0001158
alt_id: HP:0001588
alt_id: HP:0004212
alt_id: HP:0006083
alt_id: HP:0006181
alt_id: HP:0009181
def: "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [HPO:curators, pmid:16252026]
comment: Minor degrees of curvature of the small finger are so common as to be considered normal.
synonym: "Bilateral fifth digit clinodactyly" EXACT []
synonym: "Bilateral fifth finger clinodactyly" EXACT []
synonym: "Clinodactyly of fifth digit" EXACT []
synonym: "Clinodactyly of the little finger" EXACT []
synonym: "Curvature of little finger" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Curvature of pinkie finger" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Curvature of pinky finger" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Fifth finger clinodactyly" EXACT []
synonym: "Permanent curving of the pinkie finger" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: UMLS:C1850049
xref: UMLS:C4280538
is_a: HP:0009179 ! Deviation of the 5th finger
is_a: HP:0040019 ! Finger clinodactyly

[Term]
id: HP:0004213
name: Abnormal 5th finger phalanx morphology
def: "Abnormality of the phalanges of the 5th (little) finger." [HPO:sdoelken]
synonym: "Abnormality of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the phalanges of the 5th finger" EXACT []
synonym: "Abnormality of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025408
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0004214
name: Curved phalanges of the 5th finger
def: "Curved phalanges of the 5th (little) finger." [HPO:curators]
synonym: "Curved little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025407
is_a: HP:0004095 ! Curved fingers
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009770 ! Curved phalanges of the hand

[Term]
id: HP:0004216
name: Osteolytic defects of the phalanges of the 5th finger
def: "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger." [HPO:curators]
synonym: "Lytic defects of the phalanges of the little finger" EXACT []
xref: UMLS:C4021677
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand

[Term]
id: HP:0004218
name: Symphalangism of the 5th finger
def: "Fusion of two or more bones of the 5th finger." [HPO:curators]
synonym: "Fused little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalagism of the little finger" EXACT []
xref: UMLS:C4021676
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand

[Term]
id: HP:0004219
name: Abnormality of the middle phalanx of the 5th finger
synonym: "Abnormality of the middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Abnormality of the middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025406
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology

[Term]
id: HP:0004220
name: Short middle phalanx of the 5th finger
alt_id: HP:0001243
alt_id: HP:0003069
alt_id: HP:0004221
alt_id: HP:0005649
alt_id: HP:0005706
alt_id: HP:0005734
alt_id: HP:0005813
def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the fifth finger." [HPO:sdoelken, PMID:18494372]
comment: Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3).
synonym: "5th finger middle phalangeal hypoplasia" EXACT []
synonym: "Brachymesophalangism V" EXACT []
synonym: "Fifth finger mid-phalanx hypoplasia" EXACT []
synonym: "Hypoplastic fifth finger middle phalanx" EXACT []
synonym: "Hypoplastic middle phalanx of the 5th finger" EXACT []
synonym: "Hypoplastic/small middle phalanx of the 5th finger" EXACT []
synonym: "Hypoplastic/small middle phalanx of the little finger" EXACT []
synonym: "Short middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle phalanx of the little finger" EXACT []
synonym: "Type A3 brachydactyly" EXACT []
xref: UMLS:C1834060
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger
is_a: HP:0009237 ! Short 5th finger
is_a: HP:0009370 ! Type A brachydactyly

[Term]
id: HP:0004222
name: Cone-shaped epiphysis of the distal phalanx of the 5th finger
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped epiphysis of the distal phalanx of the little finger" EXACT []
xref: UMLS:C4021675
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand

[Term]
id: HP:0004223
name: Ivory epiphysis of the distal phalanx of the 5th finger
alt_id: HP:0004229
def: "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Ivory epiphysis of the distal phalanx of the little finger" EXACT []
synonym: "Ivory epiphysis of the terminal phalanx of the little finger" EXACT []
xref: UMLS:C4021674
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009388 ! Ivory epiphyses of the 5th finger
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand

[Term]
id: HP:0004224
name: Abnormality of the epiphysis of the middle phalanx of the 5th finger
def: "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators]
synonym: "Abnormality of the end part of middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025405
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand

[Term]
id: HP:0004225
name: Abnormality of the distal phalanx of the 5th finger
def: "Abnormality of the distal phalanx of the 5th (little) finger." [HPO:curators]
synonym: "Abnormality of the distal phalanx of the little finger" EXACT []
synonym: "Abnormality of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the terminal phalanx of the little finger" EXACT []
xref: UMLS:C4021673
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology

[Term]
id: HP:0004226
name: Curved distal phalanx of the 5th finger
def: "Curved appearance of the distal phalanx of the 5th (little) finger." [HPO:curators]
synonym: "Curved outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved terminal phalanx of the little finger" EXACT []
xref: UMLS:C4021672
is_a: HP:0004214 ! Curved phalanges of the 5th finger
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009838 ! Curved distal phalanges of the hand

[Term]
id: HP:0004227
name: Short distal phalanx of the 5th finger
alt_id: HP:0006171
def: "Hypoplastic/small distal phalanx of the fifth finger." [HPO:sdoelken]
synonym: "Brachytelophalangism V" EXACT []
synonym: "Fifth digit distal phalangeal hypoplasia" EXACT []
synonym: "Hypoplastic/small terminal phalanx of the little finger" EXACT []
synonym: "Short distal phalanx of the fifth finger" EXACT []
synonym: "Short outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836674
is_a: HP:0009237 ! Short 5th finger
is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger
is_a: HP:0009882 ! Short distal phalanx of finger

[Term]
id: HP:0004230
name: Subluxation of the proximal interphalangeal joint of the little finger
def: "A partial dislocation of the proximal interphalangeal joint of the little finger." [HPO:sdoelken]
synonym: "Partially dislocated innermost hinge joint of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partially dislocated innermost hinge joint of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partially dislocated innermost hinge joint of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025404
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0004231
name: Carpal bone aplasia
alt_id: HP:0005056
alt_id: HP:0006020
alt_id: HP:0006084
def: "Congenital absence of a carpal bone." [HPO:probinson]
comment: Radiographically difficult to distinguish between absent ossification of a carpal bone.
synonym: "Absent carpal bone" EXACT []
synonym: "Absent carpal bones" EXACT []
synonym: "Absent carpal ossification center" EXACT []
synonym: "Absent wrist bone" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplastic carpal bone" EXACT []
synonym: "Missing wrist bone" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836219
xref: UMLS:C4280537
is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones

[Term]
id: HP:0004232
name: Accessory carpal bones
def: "The presence of more than the normal number of carpal bones." [HPO:curators]
synonym: "Extra wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Supernumerary carpal bones" EXACT []
xref: SNOMEDCT_US:20136007
xref: SNOMEDCT_US:9181003
xref: UMLS:C0265609
is_a: HP:0001191 ! Abnormality of the carpal bones
is_a: HP:0004275 ! Duplication of hand bones

[Term]
id: HP:0004233
name: Advanced ossification of carpal bones
alt_id: HP:0006104
def: "Ossification of carpal bones at an abnormally early age." [HPO:probinson]
synonym: "Accelerated carpal bone maturation" EXACT []
synonym: "Accelerated wrist bone maturation" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Advanced carpal bone age" EXACT []
synonym: "Advanced carpal ossification" EXACT []
synonym: "Precociously ossified carpal bones" EXACT []
xref: UMLS:C1849292
xref: UMLS:C4280536
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0004234
name: Bone-in-a-bone appearance of carpal bones
def: "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones." [HPO:curators]
synonym: "Bone-in-a-bone appearance of wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025403
is_a: HP:0009164 ! Abnormal calcification of the carpal bones
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0004235
name: Comma-shaped carpal bones
synonym: "Comma-shaped wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025402
is_a: HP:0006014 ! Abnormally shaped carpal bones

[Term]
id: HP:0004236
name: Irregular carpal bones
def: "Carpal bones with irregular or fragmented margins." [HPO:probinson]
synonym: "Irregular wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025401
is_a: HP:0006014 ! Abnormally shaped carpal bones

[Term]
id: HP:0004237
name: Large carpal bones
def: "Increased size of carpal bones." [HPO:probinson]
subset: hposlim_core
synonym: "Large carpals" EXACT []
synonym: "Large wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021671
is_a: HP:0006014 ! Abnormally shaped carpal bones

[Term]
id: HP:0004238
name: Lytic defects of carpal bones
xref: UMLS:C4025400
is_a: HP:0001495 ! Carpal osteolysis

[Term]
id: HP:0004239
name: Proximally placed carpal bones
xref: UMLS:C4025399
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0004240
name: Sclerotic foci within carpal bones
synonym: "Hardened spots within wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Stiffened spots within wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025398
xref: UMLS:C4280535
is_a: HP:0004054 ! Sclerosis of hand bone
is_a: HP:0009164 ! Abnormal calcification of the carpal bones

[Term]
id: HP:0004241
name: Stippled calcification in carpal bones
alt_id: HP:0006177
def: "Point-shaped (punctate) calcifications affecting the carpal bones." [HPO:curators]
synonym: "Punctate calcifications of carpals" EXACT []
xref: UMLS:C1844846
is_a: HP:0004054 ! Sclerosis of hand bone
is_a: HP:0009164 ! Abnormal calcification of the carpal bones

[Term]
id: HP:0004242
name: Broad carpal bones
synonym: "Wide carpal bones" EXACT []
synonym: "Wide wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3554618
is_a: HP:0004237 ! Large carpal bones

[Term]
id: HP:0004243
name: Abnormality of the scaphoid
xref: UMLS:C4025397
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0004244
name: Accessory scaphoid
xref: UMLS:C4025396
is_a: HP:0004232 ! Accessory carpal bones
is_a: HP:0004243 ! Abnormality of the scaphoid

[Term]
id: HP:0004245
name: Comma-shaped scaphoid
xref: UMLS:C4025395
is_a: HP:0004235 ! Comma-shaped carpal bones
is_a: HP:0004243 ! Abnormality of the scaphoid

[Term]
id: HP:0004246
name: Delayed ossification of the scaphoid
def: "Formation of bone tissue of scaphoid is less than expected for age." [HPO:sdoelken]
synonym: "Delayed maturation of the scaphoid" EXACT []
xref: UMLS:C4021670
is_a: HP:0001216 ! Delayed ossification of carpal bones
is_a: HP:0045003 ! Abnormal ossification of the scaphoid

[Term]
id: HP:0004247
name: Small scaphoid
def: "Underdevelopment of the scaphoid." [HPO:probinson]
xref: UMLS:C4025394
is_a: HP:0001498 ! Carpal bone hypoplasia
is_a: HP:0004243 ! Abnormality of the scaphoid

[Term]
id: HP:0004248
name: Abnormality of the lunate bone
xref: UMLS:C4025393
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0004249
name: Accessory lunate
xref: UMLS:C4025392
is_a: HP:0004232 ! Accessory carpal bones
is_a: HP:0004248 ! Abnormality of the lunate bone

[Term]
id: HP:0004250
name: Proximally placed lunate
xref: UMLS:C4025391
is_a: HP:0004239 ! Proximally placed carpal bones
is_a: HP:0004248 ! Abnormality of the lunate bone

[Term]
id: HP:0004251
name: Lunate-triquetral fusion
def: "Osseous fusion of the lunate and triquetrum." [PMID:23853014]
comment: Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved.
synonym: "Lunotriquetral synostosis" EXACT []
xref: UMLS:C1867930
is_a: HP:0004248 ! Abnormality of the lunate bone

[Term]
id: HP:0004252
name: Abnormality of the trapezium
def: "An anomaly of trapezium." [HPO:probinson]
xref: UMLS:C4025390
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0004253
name: Absent trapezium
synonym: "Absent trapezium bone" EXACT []
xref: UMLS:C1847190
is_a: HP:0004252 ! Abnormality of the trapezium
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0004254
name: Delayed ossification of the trapezium
def: "Formation of bone tissue of trapezium is less than expected for age." [HPO:probinson]
synonym: "Delayed maturation of the trapezium" EXACT []
xref: UMLS:C4021669
is_a: HP:0001216 ! Delayed ossification of carpal bones
is_a: HP:0045001 ! Abnormal ossification of the trapezium

[Term]
id: HP:0004255
name: Small trapezium
def: "Underdevelopment of the trapezium." [HPO:probinson]
xref: UMLS:C4025389
is_a: HP:0001498 ! Carpal bone hypoplasia
is_a: HP:0004252 ! Abnormality of the trapezium

[Term]
id: HP:0004256
name: Abnormality of the trapezoid bone
xref: UMLS:C4025388
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0004257
name: Delayed ossification of the trapezoid bone
def: "Formation of bone tissue of trapezoid is less than expected for age." [HPO:probinson]
synonym: "Delayed maturation of the trapezoid bone" EXACT []
xref: UMLS:C4021668
is_a: HP:0001216 ! Delayed ossification of carpal bones
is_a: HP:0045004 ! Abnormal ossification of the trapezoid bone

[Term]
id: HP:0004258
name: Small trapezoid bone
def: "Underdevelopment of the trapezoid." [HPO:probinson]
xref: UMLS:C4025387
is_a: HP:0001498 ! Carpal bone hypoplasia
is_a: HP:0004256 ! Abnormality of the trapezoid bone

[Term]
id: HP:0004259
name: Abnormality of the hamate bone
xref: UMLS:C4025386
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0004260
name: Large hamate bone
synonym: "Large unciform bone" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025385
is_a: HP:0004237 ! Large carpal bones
is_a: HP:0004259 ! Abnormality of the hamate bone

[Term]
id: HP:0004261
name: Wide hamate bone
synonym: "Broad hamate bone" EXACT []
synonym: "Wide unciform bone" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4021667
is_a: HP:0004242 ! Broad carpal bones
is_a: HP:0004260 ! Large hamate bone

[Term]
id: HP:0004262
name: Abnormality of the capitate bone
xref: UMLS:C4025384
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0004263
name: Large capitate bone
xref: UMLS:C4025383
is_a: HP:0004237 ! Large carpal bones
is_a: HP:0004262 ! Abnormality of the capitate bone

[Term]
id: HP:0004264
name: Narrow carpal joint spaces
alt_id: HP:0004265
synonym: "Decreased carpal joint angles" EXACT []
xref: UMLS:C4021666
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0004267
name: Narrow small joints of the hand
synonym: "Narrow small joints of the hand" EXACT layperson []
xref: UMLS:C4025382
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0004268
name: Osteoarthritis of the small joints of the hand
xref: UMLS:C4025381
is_a: HP:0002758 ! Osteoarthritis
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0004269
name: Subluxation of the small joints of the hand
def: "A partial dislocation of some or all of the small joints of the hand." [HPO:curators]
synonym: "Partial dislocation of small joints of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025380
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0004271
name: Cortical thickening of hand bones
xref: UMLS:C4025379
is_a: HP:0005926 ! Abnormality of hand cortical bone
is_a: HP:0100039 ! Thickened cortex of bones

[Term]
id: HP:0004272
name: Cortical thinning of hand bones
xref: UMLS:C4025378
is_a: HP:0002753 ! Thin bony cortex
is_a: HP:0005926 ! Abnormality of hand cortical bone

[Term]
id: HP:0004273
name: Cupped metaphyses of hand bones
synonym: "Cupped metaphysis of hand bones" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Cupped wide portion of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025377
is_a: HP:0005923 ! Abnormalities of the metaphyses of the hand

[Term]
id: HP:0004274
name: Deficient ossification of hand bones
synonym: "Deficient maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025376
xref: UMLS:C4280534
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004275
name: Duplication of hand bones
synonym: "Duplication of hand bones" EXACT layperson []
xref: UMLS:C3276746
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0009142 ! Duplication of bones involving the upper extremities

[Term]
id: HP:0004276
name: Exostoses of hand bones
def: "Abnormal formation of new bone on the surface of a bone of the hand." [HPO:curators]
xref: UMLS:C4025375
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0004277
name: Fractured hand bones
synonym: "Broken hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fractured hand bones" EXACT layperson []
xref: SNOMEDCT_US:20511007
xref: UMLS:C0435632
is_a: HP:0001155 ! Abnormality of the hand

[Term]
id: HP:0004278
name: Synostosis involving bones of the hand
def: "An abnormal union between bones or parts of bones of the hand." [HPO:sdoelken]
synonym: "Fused hand bones" RELATED layperson []
xref: UMLS:C4020831
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0100238 ! Synostosis involving bones of the upper limbs

[Term]
id: HP:0004279
name: Short palm
alt_id: HP:0001165
def: "Short palm." [HPO:probinson, pmid:19125433]
comment: This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short.
synonym: "Hypoplastic hands" RELATED []
synonym: "Short hands" RELATED layperson []
synonym: "Short palm" EXACT layperson []
synonym: "Short palms" RELATED layperson [HPO:skoehler]
xref: UMLS:C1843108
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
is_a: HP:0100871 ! Abnormality of the palm

[Term]
id: HP:0004280
name: Irregular ossification of hand bones
synonym: "Irregular maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025374
is_a: HP:0010660 ! Abnormal hand bone ossification

[Term]
id: HP:0004281
name: Irregular sclerosis of hand bones
synonym: "Increased bone density in hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025373
is_a: HP:0004054 ! Sclerosis of hand bone

[Term]
id: HP:0004283
name: Narrow palm
def: "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length." [pmid:19125433]
comment: Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not.
synonym: "Narrow hand" EXACT []
synonym: "Narrow hands" RELATED [HPO:skoehler]
synonym: "Narrow palm" EXACT layperson []
xref: UMLS:C1857632
is_a: HP:0100871 ! Abnormality of the palm

[Term]
id: HP:0004284
name: Notched hand bones
synonym: "Notched hand bones" EXACT layperson []
xref: UMLS:C4025372
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004285
name: Overmodelled hand bones
xref: UMLS:C4025371
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004286
name: Patchy sclerosis of hand bones
synonym: "Uneven increase in bone density in hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025370
is_a: HP:0004281 ! Irregular sclerosis of hand bones

[Term]
id: HP:0004287
name: Pointed hand bones
synonym: "Pointed hand bones" EXACT layperson []
xref: UMLS:C4025369
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004288
name: Pseudoepiphyses of hand bones
xref: UMLS:C4025368
is_a: HP:0005924 ! Abnormality of the epiphyses of the hand
is_a: HP:0010584 ! Pseudoepiphyses

[Term]
id: HP:0004289
name: Sclerotic foci in hand bones
xref: UMLS:C4025367
is_a: HP:0004281 ! Irregular sclerosis of hand bones

[Term]
id: HP:0004290
name: Sclerosis of hand bones with transverse striations
xref: UMLS:C4025366
is_a: HP:0004281 ! Irregular sclerosis of hand bones

[Term]
id: HP:0004291
name: Stippled calcification of hand bones
xref: UMLS:C4025365
is_a: HP:0004280 ! Irregular ossification of hand bones

[Term]
id: HP:0004292
name: Undermodelled hand bones
xref: UMLS:C4025364
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0004293
name: Synostosis of second metacarpal-trapezoid
def: "Fusion of the second metacarpal-trapezoid." [HPO:probinson]
synonym: "Fusion of second metacarpal-trapezoid" EXACT []
xref: UMLS:C4021665
is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal
is_a: HP:0100328 ! Carpometacarpal synostosis

[Term]
id: HP:0004294
name: Subluxation of metacarpal phalangeal joints
def: "A partial dislocation affecting some or all of the metacarpophalangeal joints." [HPO:probinson]
synonym: "Partial knuckle dislocation" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Subluxation of metacarpophalangeal joints" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025363
is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0004295
name: Abnormality of the gastric mucosa
def: "An abnormality of the gastric mucous membrane." [HPO:probinson]
synonym: "Abnormality of the mucous membrane layer of stomach" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025362
is_a: HP:0002577 ! Abnormality of the stomach
created_by: peter
creation_date: 2008-02-20T11:12:00Z

[Term]
id: HP:0004296
name: Abnormality of gastrointestinal vasculature
synonym: "Abnormality of GI blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of GI vasculature" EXACT HP:0045077 []
xref: UMLS:C4025361
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract
created_by: peter
creation_date: 2008-02-20T11:24:00Z

[Term]
id: HP:0004297
name: Abnormality of the biliary system
def: "An abnormality of the biliary system." [HPO:probinson]
xref: UMLS:C0940767
is_a: HP:0001392 ! Abnormality of the liver
created_by: peter
creation_date: 2008-02-20T11:34:00Z

[Term]
id: HP:0004298
name: Abnormality of the abdominal wall
alt_id: HP:0001462
def: "The presence of any abnormality affecting the abdominal wall." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of external features of the abdomen" EXACT []
synonym: "Abnormality of the abdominal wall" EXACT layperson []
xref: UMLS:C4021664
is_a: HP:0025031 ! Abnormality of the digestive system
created_by: peter
creation_date: 2008-02-20T11:40:00Z

[Term]
id: HP:0004299
name: Hernia of the abdominal wall
def: "The presence of a hernia in the abdominal wall." [HPO:probinson]
comment: A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia.
subset: hposlim_core
synonym: "Herniated abdominal wall" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:4414
xref: SNOMEDCT_US:128545000
xref: UMLS:C1442978
is_a: HP:0010866 ! Abdominal wall defect
is_a: HP:0100790 ! Hernia
created_by: peter
creation_date: 2008-02-20T11:42:00Z

[Term]
id: HP:0004302
name: Functional motor deficit
synonym: "Functional motor problems" EXACT []
xref: UMLS:C4025360
is_a: HP:0011804 ! Abnormal muscle physiology
created_by: peter
creation_date: 2008-02-20T11:52:00Z

[Term]
id: HP:0004303
name: Abnormality of muscle fibers
alt_id: HP:0003706
alt_id: HP:0011806
def: "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers." [HPO:probinson]
comment: Skeletal muscle fibers are cylindrical multinucleated muscle cells. This feature is meant to group abnormalities appreciated by histology, electron microscopy, and similar methods that allow individual cells to be visualized.
synonym: "Abnormal skeletal muscle fiber morphology" EXACT []
xref: UMLS:C4021663
is_a: HP:0011805 ! Abnormal muscle morphology
created_by: peter
creation_date: 2008-02-20T12:04:00Z

[Term]
id: HP:0004305
name: Involuntary movements
alt_id: HP:0007120
def: "Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face." [HPO:probinson]
synonym: "Involuntary movements" EXACT layperson []
synonym: "Involuntary muscle contractions" EXACT layperson []
xref: SNOMEDCT_US:102542000
xref: UMLS:C0235086
is_a: HP:0100022 ! Abnormality of movement
created_by: peter
creation_date: 2008-02-20T12:18:00Z

[Term]
id: HP:0004306
name: Abnormal endocardium morphology
alt_id: HP:0005260
def: "An abnormality of the endocardium." [HPO:probinson]
synonym: "Abnormality of the endocardium" EXACT []
synonym: "Abnormality of the endomycoardium" EXACT []
xref: UMLS:C4021662
is_a: HP:0001627 ! Abnormal heart morphology
created_by: peter
creation_date: 2008-02-20T01:23:00Z

[Term]
id: HP:0004307
name: Abnormal anatomic location of the heart
def: "Thickening of the left ventricle wall with congenital onset." [PMID:154915]
xref: UMLS:C4025359
is_a: HP:0001627 ! Abnormal heart morphology
created_by: peter
creation_date: 2008-02-20T01:23:00Z

[Term]
id: HP:0004308
name: Ventricular arrhythmia
synonym: "Ventricular arrhythmias" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:44103008
xref: UMLS:C0085612
is_a: HP:0011675 ! Arrhythmia
created_by: peter
creation_date: 2008-02-20T01:28:00Z

[Term]
id: HP:0004309
name: Ventricular preexcitation
alt_id: HP:0006676
def: "An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway." [HPO:probinson]
comment: Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node.
synonym: "Pre-excitation syndrome" EXACT []
synonym: "Preexcitation" EXACT []
synonym: "Ventricular pre-excitation" EXACT []
xref: SNOMEDCT_US:195060002
xref: UMLS:C0559106
is_a: HP:0004308 ! Ventricular arrhythmia
created_by: peter
creation_date: 2008-02-20T01:29:00Z

[Term]
id: HP:0004311
name: Abnormal macrophage morphology
alt_id: HP:0004310
def: "An abnormality of macrophages." [HPO:probinson]
synonym: "Abnormality of histiocytes" EXACT []
synonym: "Abnormality of macrophages" EXACT []
xref: UMLS:C4021661
is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology
created_by: peter
creation_date: 2008-02-20T03:14:00Z

[Term]
id: HP:0004312
name: Abnormality of reticulocytes
def: "A reticulocyte abnormality." [HPO:probinson]
comment: Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining.
xref: UMLS:C4025358
is_a: HP:0001877 ! Abnormal erythrocyte morphology
created_by: peter
creation_date: 2008-02-20T03:19:00Z

[Term]
id: HP:0004313
name: Decreased antibody level in blood
alt_id: HP:0010703
def: "An abnormally decreased level of immunoglobulin in blood." [HPO:probinson]
comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM.
synonym: "Decreased immunoglobulin level" EXACT []
synonym: "Decreased serum immunoglobulin" EXACT []
synonym: "Hypogammaglobulinemia" EXACT []
synonym: "Immunoglobulin deficiency" EXACT []
synonym: "Reduced immunoglobulin levels" EXACT []
xref: MSH:D000361
xref: SNOMEDCT_US:119250001
xref: UMLS:C0086438
xref: UMLS:C4048270
is_a: HP:0010701 ! Abnormal immunoglobulin level
created_by: peter
creation_date: 2008-02-20T03:34:00Z

[Term]
id: HP:0004315
name: Decreased circulating IgG level
alt_id: HP:0003289
alt_id: HP:0003294
alt_id: HP:0005394
alt_id: HP:0008325
alt_id: HP:0008340
def: "An abnormally decreased level of immunoglobulin G (IgG) in blood." [HPO:probinson]
synonym: "Decreased gamma-globin expression" EXACT []
synonym: "Decreased IgG level" EXACT []
synonym: "Decreased immunoglobulin G" EXACT []
synonym: "Decreased serum IgG" EXACT []
synonym: "IgG deficiency" EXACT []
synonym: "Reduced IgG levels" EXACT []
xref: MSH:D017099
xref: SNOMEDCT_US:123785006
xref: SNOMEDCT_US:190981001
xref: UMLS:C0162539
is_a: HP:0004313 ! Decreased antibody level in blood
is_a: HP:0410242 ! Abnormal IgG level
created_by: peter
creation_date: 2008-02-20T03:43:00Z

[Term]
id: HP:0004319
name: Decreased circulating aldosterone level
alt_id: HP:0000355
alt_id: HP:0002924
alt_id: HP:0008184
alt_id: HP:0008190
def: "Abnormally reduced levels of aldosterone." [DDD:spark, HPO:probinson]
comment: Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis.
synonym: "Decreased aldosterone" EXACT []
synonym: "Decreased aldosterone production" EXACT []
synonym: "Decreased serum aldosterone" EXACT []
synonym: "Hypoaldosteronism" EXACT []
synonym: "Low blood aldosterone level" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Mineralocorticoid insufficiency" EXACT []
xref: MSH:D006994
xref: SNOMEDCT_US:60086000
xref: UMLS:C0020595
xref: UMLS:C0857899
xref: UMLS:C1846226
is_a: HP:0008207 ! Primary adrenal insufficiency
created_by: peter
creation_date: 2008-02-25T10:45:00Z

[Term]
id: HP:0004320
name: Vaginal fistula
def: "The presence of a fistula of the vagina." [HPO:probinson]
xref: MSH:D014624
xref: SNOMEDCT_US:45135002
xref: UMLS:C0042253
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0100589 ! Urogenital fistula
created_by: peter
creation_date: 2008-02-25T12:17:00Z

[Term]
id: HP:0004321
name: Bladder fistula
def: "The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin." [HPO:curators]
xref: MSH:D001747
xref: SNOMEDCT_US:68666001
xref: UMLS:C0005690
is_a: HP:0025487 ! Abnormality of bladder morphology
is_a: HP:0100589 ! Urogenital fistula
created_by: peter
creation_date: 2008-02-25T12:32:00Z

[Term]
id: HP:0004322
name: Short stature
alt_id: HP:0001509
alt_id: HP:0003501
alt_id: HP:0003507
alt_id: HP:0003512
alt_id: HP:0003518
alt_id: HP:0003519
alt_id: HP:0008871
alt_id: HP:0008882
alt_id: HP:0008888
alt_id: HP:0008913
def: "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
synonym: "Decreased body height" EXACT layperson []
synonym: "Height less than 3rd percentile" EXACT []
synonym: "Short stature" EXACT layperson []
synonym: "Small stature" EXACT layperson []
synonym: "Stature below 3rd percentile" EXACT []
xref: SNOMEDCT_US:237836003
xref: UMLS:C0349588
is_a: HP:0000002 ! Abnormality of body height
is_a: HP:0001510 ! Growth delay
created_by: peter
creation_date: 2008-02-27T03:19:00Z

[Term]
id: HP:0004323
name: Abnormality of body weight
alt_id: HP:0010718
def: "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body." [HPO:probinson]
synonym: "Abnormality of body weight" EXACT layperson []
synonym: "Abnormality of habitus" RELATED []
xref: UMLS:C0878621
xref: UMLS:C4025357
is_a: HP:0001507 ! Growth abnormality
created_by: peter
creation_date: 2008-02-27T03:21:00Z

[Term]
id: HP:0004324
name: Increased body weight
alt_id: HP:0045083
def: "Abnormally increased body weight." []
synonym: "Increased body weight" EXACT layperson []
synonym: "Weight gain" RELATED layperson []
xref: MSH:D015430
xref: SNOMEDCT_US:161831008
xref: SNOMEDCT_US:262286000
xref: SNOMEDCT_US:8943002
xref: UMLS:C0043094
is_a: HP:0004323 ! Abnormality of body weight
created_by: peter
creation_date: 2008-02-27T03:21:00Z

[Term]
id: HP:0004325
name: Decreased body weight
alt_id: HP:0001823
alt_id: HP:0001826
synonym: "Decreased body weight" EXACT layperson []
synonym: "Decreased weight" EXACT layperson []
synonym: "Low body weight" EXACT layperson []
synonym: "Low weight" EXACT layperson []
synonym: "Weight less than 3rd percentile" EXACT layperson []
xref: MSH:D013851
xref: MSH:D015431
xref: SNOMEDCT_US:161832001
xref: SNOMEDCT_US:248342006
xref: SNOMEDCT_US:262285001
xref: SNOMEDCT_US:89362005
xref: UMLS:C0041667
xref: UMLS:C1262477
xref: UMLS:C1844806
is_a: HP:0004323 ! Abnormality of body weight
created_by: peter
creation_date: 2008-02-27T03:22:00Z

[Term]
id: HP:0004326
name: Cachexia
def: "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease." [HPO:probinson]
synonym: "Wasting syndrome" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D002100
xref: SNOMEDCT_US:238108007
xref: SNOMEDCT_US:285384003
xref: UMLS:C0006625
is_a: HP:0001824 ! Weight loss
created_by: peter
creation_date: 2008-02-27T03:23:00Z

[Term]
id: HP:0004327
name: Abnormal vitreous humor morphology
def: "Any structural anomaly of the vitreous body." [HPO:probinson]
comment: The vitreous humor is the clear gel that fills the space between the lens and the retina.
subset: hposlim_core
xref: UMLS:C4025356
is_a: HP:0004329 ! Abnormal posterior eye segment morphology
created_by: peter
creation_date: 2008-02-27T04:20:00Z

[Term]
id: HP:0004328
name: Abnormal anterior eye segment morphology
def: "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens)." [HPO:probinson]
comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens.
synonym: "Abnormal anterior segment morphology" EXACT []
synonym: "Abnormality of the anterior segment of the eye" EXACT []
synonym: "Abnormality of the anterior segment of the eyeball" EXACT []
synonym: "Abnormality of the anterior segment of the globe" EXACT []
xref: UMLS:C4025355
is_a: HP:0012372 ! Abnormal eye morphology
created_by: peter
creation_date: 2008-02-27T04:23:00Z

[Term]
id: HP:0004329
name: Abnormal posterior eye segment morphology
comment: The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve.
synonym: "Abnormal morphology of the posterior segment of the globe" EXACT []
synonym: "Abnormality of the posterior segment of the eye" EXACT []
synonym: "Abnormality of the posterior segment of the eyeball" EXACT []
synonym: "Abnormality of the posterior segment of the globe" EXACT []
xref: UMLS:C4025354
is_a: HP:0012372 ! Abnormal eye morphology
created_by: peter
creation_date: 2008-02-27T04:25:00Z

[Term]
id: HP:0004330
name: Increased skull ossification
def: "An increase in the magnitude or amount of ossification of the skull." [HPO:probinson]
subset: hposlim_core
synonym: "Hyperossification of skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased calcification of skull" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased Mineralization of skull" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Sclerosis of bones of skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Sclerosis of skull" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:17401000119104
xref: UMLS:C0020496
xref: UMLS:C4072850
xref: UMLS:C4072851
is_a: HP:0002703 ! Abnormality of skull ossification
is_a: HP:0011001 ! Increased bone mineral density
created_by: peter
creation_date: 2008-02-28T11:54:00Z

[Term]
id: HP:0004331
name: Decreased skull ossification
alt_id: HP:0003780
def: "A reduction in the magnitude or amount of ossification of the skull." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased bone formation of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Decreased calcification of skull" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased mineralization of skull" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Deficient skull ossification" EXACT []
synonym: "Hypoossification of skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Ossification defect of skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Poorly mineralized skull" EXACT []
synonym: "Poorly ossified skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Poorly ossified skull bones" EXACT []
xref: SNOMEDCT_US:253980008
xref: UMLS:C0432073
xref: UMLS:C4280533
is_a: HP:0002703 ! Abnormality of skull ossification
is_a: HP:0011849 ! Abnormal bone ossification
created_by: peter
creation_date: 2008-02-28T11:54:00Z

[Term]
id: HP:0004332
name: Abnormal lymphocyte morphology
alt_id: HP:0001887
alt_id: HP:0012140
def: "An abnormality of lymphocytes." [HPO:probinson]
comment: A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage.
synonym: "Abnormal lymphocytes" EXACT []
synonym: "Abnormality of cells of the lymphoid lineage" EXACT []
xref: SNOMEDCT_US:250284007
xref: UMLS:C0427546
is_a: HP:0001881 ! Abnormal leukocyte morphology
created_by: peter
creation_date: 2008-02-28T06:46:00Z

[Term]
id: HP:0004333
name: Bone-marrow foam cells
alt_id: HP:0001979
def: "The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance." [HPO:probinson]
synonym: "Bone marrow foam cells" EXACT []
synonym: "Large vacuolated foam cells ('NP cells') on bone marrow biopsy" EXACT []
synonym: "Large vacuolated foam cells on bone marrow biopsy" EXACT []
xref: UMLS:C1856560
is_a: HP:0004311 ! Abnormal macrophage morphology
created_by: peter
creation_date: 2008-02-28T06:48:00Z

[Term]
id: HP:0004334
name: Dermal atrophy
alt_id: HP:0000985
alt_id: HP:0001077
def: "Partial or complete wasting (atrophy) of the skin." [HPO:probinson]
subset: hposlim_core
synonym: "Atrophic skin" EXACT []
synonym: "Skin atrophy" EXACT []
synonym: "Skin degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MEDDRA:10040799 "Skin atrophy"
xref: SNOMEDCT_US:399979006
xref: SNOMEDCT_US:400190005
xref: UMLS:C0151514
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin
created_by: peter
creation_date: 2008-03-04T06:24:00Z

[Term]
id: HP:0004336
name: Myelin outfoldings
alt_id: HP:0003433
alt_id: HP:0006898
alt_id: HP:0007290
def: "The presence of excessive redundant myelin in the peripheral nerve sheath." [HPO:probinson, pmid:10932274]
comment: This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy).
synonym: "Excessive focal folding of myelin sheaths" EXACT []
synonym: "Irregular myelin foldings" EXACT []
xref: UMLS:C1843168
is_a: HP:0030173 ! Peripheral hypermyelination
created_by: peter
creation_date: 2008-03-04T06:41:00Z

[Term]
id: HP:0004337
name: Abnormality of amino acid metabolism
def: "Abnormality of an amino acid metabolic process." [HPO:probinson]
synonym: "Amino acid levels abnormal" RELATED []
xref: UMLS:C1328440
is_a: HP:0032245 ! Abnormal metabolism
created_by: peter
creation_date: 2008-03-08T07:53:00Z

[Term]
id: HP:0004338
name: Abnormal circulating aromatic amino acid concentration
def: "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation." [HPO:probinson]
synonym: "Abnormality of aromatic amino acid family metabolism" EXACT []
xref: UMLS:C4025352
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2008-03-08T07:55:00Z

[Term]
id: HP:0004339
name: Abnormal circulating sulfur amino acid concentration
def: "Any deviation from the normal concentration of a sulfur amino acid in the blood circulation." [HPO:gcarletti]
comment: Cysteine and methionine contain a sulfur atom.
synonym: "Abnormality of sulfur-containing amino acids" EXACT []
xref: UMLS:C4021660
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2008-03-08T08:01:00Z

[Term]
id: HP:0004340
name: Abnormality of vitamin B metabolism
synonym: "Abnormality of B-vitamin metabolism" EXACT []
xref: UMLS:C4021659
is_a: HP:0100508 ! Abnormality of vitamin metabolism
created_by: peter
creation_date: 2008-03-08T08:08:00Z

[Term]
id: HP:0004341
name: Abnormality of vitamin B12 metabolism
synonym: "Abnormality of the vitamin B12 metabolism" EXACT []
xref: UMLS:C4021658
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
created_by: peter
creation_date: 2008-03-08T08:09:00Z

[Term]
id: HP:0004342
name: Abnormality of galactoside metabolism
def: "Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose." [HPO:gcarletti]
xref: UMLS:C4025351
is_a: HP:0003649 ! Abnormality of glycoside metabolism
created_by: peter
creation_date: 2008-03-08T08:33:00Z

[Term]
id: HP:0004343
name: Abnormality of glycosphingolipid metabolism
def: "An abnormality of glycosphingolipid metabolism." [HPO:probinson]
comment: Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid.
xref: UMLS:C4025350
is_a: HP:0010969 ! Abnormality of glycolipid metabolism
created_by: peter
creation_date: 2008-03-08T08:35:00Z

[Term]
id: HP:0004344
name: Abnormality of cerebrosidase metabolism
xref: UMLS:C4025349
is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism
created_by: peter
creation_date: 2008-03-08T08:36:00Z

[Term]
id: HP:0004345
name: Ganglioside accumulation
def: "Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease)." [HPO:probinson, PMID:21937853]
comment: A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain.
xref: UMLS:C4025348
is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism
created_by: peter
creation_date: 2008-03-11T07:50:00Z

[Term]
id: HP:0004347
name: Weakness of muscles of respiration
def: "Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles." [HPO:probinson]
xref: UMLS:C4025347
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0002795 ! Functional respiratory abnormality
created_by: peter
creation_date: 2008-03-11T08:03:00Z

[Term]
id: HP:0004348
name: Abnormality of bone mineral density
def: "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [HPO:probinson]
synonym: "Abnormality of bone mineralisation and ossification" EXACT []
xref: UMLS:C4021657
is_a: HP:0011849 ! Abnormal bone ossification
created_by: peter
creation_date: 2008-03-11T08:10:00Z

[Term]
id: HP:0004349
name: Reduced bone mineral density
def: "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:sdoelken]
synonym: "Decreased bone mineral density" EXACT [HPO:skoehler]
synonym: "Decreased bone mineral density Z score" EXACT []
synonym: "Low solidness and mass of the bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C2674432
is_a: HP:0004348 ! Abnormality of bone mineral density
created_by: peter
creation_date: 2008-03-11T08:10:00Z

[Term]
id: HP:0004352
name: Abnormal circulating purine concentration
def: "Any deviation from the normal concentration of a purine in the blood circulation." []
comment: Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine.
synonym: "Abnormal circulating purine level" EXACT []
xref: UMLS:C4025346
is_a: HP:0010932 ! Abnormal circulating nucleobase concentration
created_by: peter
creation_date: 2008-03-17T01:04:00Z

[Term]
id: HP:0004353
name: Abnormal circulating pyrimidine concentration
def: "Any deviation from the normal concentration of a pyrimidine in the blood circulation." [HPO:probinson]
xref: UMLS:C4025345
is_a: HP:0010932 ! Abnormal circulating nucleobase concentration
created_by: peter
creation_date: 2008-03-17T01:05:00Z

[Term]
id: HP:0004354
name: Abnormal circulating carboxylic acid concentration
def: "Any deviation from the normal concentration of a carboxylic acid in the blood circulation." [HPO:gcarletti]
comment: Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH).
xref: UMLS:C4025344
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
created_by: peter
creation_date: 2008-03-17T01:11:00Z

[Term]
id: HP:0004355
name: obsolete Abnormality of proteoglycan metabolism
is_obsolete: true
replaced_by: HP:0001939
creation_date: 2008-03-17T01:12:00Z

[Term]
id: HP:0004356
name: Abnormality of lysosomal metabolism
comment: A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors.
xref: UMLS:C4025342
is_a: HP:0011017 ! Abnormal cellular physiology
created_by: peter
creation_date: 2008-03-17T02:40:00Z

[Term]
id: HP:0004357
name: Abnormal circulating leucine concentration
def: "Any deviation from the normal circulation of leucine in the blood circulation." [HPO:probinson]
xref: UMLS:C4025341
is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration
created_by: peter
creation_date: 2008-03-17T03:02:00Z

[Term]
id: HP:0004358
name: Abnormality of superoxide metabolism
comment: NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing.
xref: UMLS:C4025340
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: peter
creation_date: 2008-03-17T03:22:00Z

[Term]
id: HP:0004359
name: Abnormal circulating fatty-acid concentration
def: "A deviation from the normal concentration of a fatty acid in the blood circulation." [HPO:probinson]
comment: A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids.
synonym: "Abnormality of fatty acid metabolism" EXACT []
synonym: "Fatty acids abnormal" RELATED []
xref: UMLS:C4020830
xref: UMLS:C4021656
is_a: HP:0003119 ! Abnormal circulating lipid concentration
created_by: peter
creation_date: 2008-03-17T03:28:00Z

[Term]
id: HP:0004360
name: Abnormality of acid-base homeostasis
def: "An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH." [HPO:probinson]
synonym: "Acid base imbalance" RELATED []
xref: MSH:D000137
xref: UMLS:C0001118
is_a: HP:0012337 ! Abnormal homeostasis
created_by: peter
creation_date: 2008-03-17T03:35:00Z

[Term]
id: HP:0004361
name: Abnormality of circulating leptin level
def: "An abnormal concentration of leptin in the blood." [HPO:probinson]
xref: UMLS:C4025339
is_a: HP:0003117 ! Abnormal circulating hormone level
created_by: peter
creation_date: 2008-03-17T03:37:00Z

[Term]
id: HP:0004362
name: Abnormality of enteric ganglion morphology
alt_id: HP:0002596
alt_id: HP:0003283
def: "An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow." [HPO:probinson]
synonym: "Abnormality of the enteric ganglia" RELATED []
xref: UMLS:C4025338
is_a: HP:0025028 ! Abnormality of enteric nervous system morphology
created_by: peter
creation_date: 2008-03-17T03:40:00Z

[Term]
id: HP:0004363
name: Abnormal circulating calcium concentration
alt_id: HP:0040077
def: "Any deviation from the normal concentration of calcium in the blood circulation." [HPO:probinson]
synonym: "Abnormal blood calcium concentration" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal blood calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal circulating Ca concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal circulating Ca2+ concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0010927 ! Abnormal blood inorganic cation concentration
created_by: peter
creation_date: 2008-03-17T04:15:00Z

[Term]
id: HP:0004364
name: Abnormal circulating nitrogen compound concentration
def: "Any deviation from the normal concentration of a nitrogen compound in the blood circulation." [HPO:gcarletti]
comment: Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine.
xref: UMLS:C4025336
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
created_by: peter
creation_date: 2008-03-17T04:51:00Z

[Term]
id: HP:0004365
name: Abnormal circulating tryptophan concentration
def: "Any deviation from the normal concentration of tryptophan in the blood circulation." [HPO:probinson]
synonym: "Abnormality of tryptophan metabolism" EXACT []
xref: UMLS:C4025335
is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration
created_by: peter
creation_date: 2008-03-17T04:55:00Z

[Term]
id: HP:0004366
name: Abnormality of glycolysis
def: "An abnormality of glycolysis." [HPO:probinson]
xref: UMLS:C4025334
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
created_by: peter
creation_date: 2008-03-17T05:00:00Z

[Term]
id: HP:0004367
name: obsolete Abnormality of glycoprotein metabolism
is_obsolete: true
replaced_by: HP:0001939

[Term]
id: HP:0004368
name: Increased purine level
synonym: "Increased purine levels" EXACT layperson []
xref: UMLS:C4025332
is_a: HP:0004352 ! Abnormal circulating purine concentration
created_by: peter
creation_date: 2008-03-18T06:31:00Z

[Term]
id: HP:0004369
name: Decreased purine level
synonym: "Decreased purine levels" EXACT layperson []
xref: UMLS:C4025331
is_a: HP:0004352 ! Abnormal circulating purine concentration
created_by: peter
creation_date: 2008-03-18T06:32:00Z

[Term]
id: HP:0004370
name: Abnormality of temperature regulation
def: "An abnormality of temperature homeostasis." [HPO:probinson]
synonym: "Abnormality of temperature regulation" EXACT layperson []
synonym: "Body temperature changes" RELATED layperson []
synonym: "Poor temperature regulation" EXACT layperson []
xref: MSH:D001832
xref: UMLS:C0005904
xref: UMLS:C1832160
is_a: HP:0012337 ! Abnormal homeostasis
created_by: peter
creation_date: 2008-03-18T06:34:00Z

[Term]
id: HP:0004371
name: Abnormality of glycosaminoglycan metabolism
def: "Abnormality of glycosaminoglycan metabolism." [HPO:probinson]
comment: A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan.
xref: UMLS:C4025330
is_a: HP:0011017 ! Abnormal cellular physiology
created_by: peter
creation_date: 2008-03-18T06:36:00Z

[Term]
id: HP:0004372
name: Reduced consciousness/confusion
synonym: "Disturbances of consciousness" EXACT layperson []
synonym: "Lowered consciousness" EXACT layperson []
synonym: "Reduced consciousness/confusion" EXACT layperson []
xref: SNOMEDCT_US:3006004
xref: UMLS:C0234428
is_a: HP:0011446 ! Abnormality of higher mental function
created_by: peter
creation_date: 2008-03-18T07:12:00Z

[Term]
id: HP:0004373
name: Focal dystonia
alt_id: HP:0007140
def: "A type of dystonia that is localized to a specific part of the body." [HPO:probinson]
xref: MSH:D020821
xref: SNOMEDCT_US:445006008
xref: UMLS:C0743332
is_a: HP:0001332 ! Dystonia
created_by: peter
creation_date: 2008-03-18T07:33:00Z

[Term]
id: HP:0004374
name: Hemiplegia/hemiparesis
def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators]
synonym: "Paralysis or weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C0375206
is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction
created_by: peter
creation_date: 2008-03-18T07:35:00Z

[Term]
id: HP:0004375
name: Neoplasm of the nervous system
def: "A tumor (abnormal growth of tissue) of the nervous system." [HPO:probinson]
synonym: "Neoplasia of the nervous system" RELATED []
synonym: "Nervous system cancer" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Tumor of the nervous system" EXACT layperson [HPO:sdoelken]
xref: MSH:D009423
xref: NCIT:C3262
xref: SNOMEDCT_US:126950007
xref: UMLS:C0027766
is_a: HP:0011793 ! Neoplasm by anatomical site
is_a: HP:0012639 ! Abnormality of nervous system morphology
created_by: peter
creation_date: 2008-03-18T07:38:00Z

[Term]
id: HP:0004376
name: Neuroblastic tumors
comment: Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors.
xref: UMLS:C1334953
is_a: HP:0100836 ! Malignant neoplasm of the central nervous system
created_by: peter
creation_date: 2008-03-18T07:39:00Z

[Term]
id: HP:0004377
name: Hematological neoplasm
def: "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)." [http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms]
synonym: "Blood tumor" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D019337
xref: SNOMEDCT_US:129154003
xref: SNOMEDCT_US:269475001
xref: UMLS:C0376545
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: peter
creation_date: 2008-03-18T07:44:00Z

[Term]
id: HP:0004378
name: Abnormality of the anus
def: "Abnormality of the anal canal." [HPO:probinson]
comment: The anal canal is continuous proximally with the rectum and distally terminates with the anus.
synonym: "Abnormality of the anus" EXACT layperson []
xref: UMLS:C4025329
is_a: HP:0012732 ! Anorectal anomaly
created_by: peter
creation_date: 2008-03-18T08:11:00Z

[Term]
id: HP:0004379
name: Abnormality of alkaline phosphatase activity
def: "An abnormality of alkaline phosphatase activity." [HPO:probinson]
comment: Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease.
synonym: "Abnormality of ALP activity" EXACT HP:0045077 []
synonym: "Alkaline phosphatase abnormal" RELATED []
xref: UMLS:C4020829
xref: UMLS:C4025328
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: peter
creation_date: 2008-03-18T08:13:00Z

[Term]
id: HP:0004380
name: Aortic valve calcification
alt_id: HP:0004759
alt_id: HP:0005173
def: "Deposition of calcium salts in the aortic valve." [HPO:probinson]
xref: MSH:C562942
xref: SNOMEDCT_US:250978003
xref: UMLS:C0428791
is_a: HP:0001646 ! Abnormal aortic valve morphology
is_a: HP:0005146 ! Cardiac valve calcification
created_by: peter
creation_date: 2008-03-18T08:52:00Z

[Term]
id: HP:0004381
name: Supravalvular aortic stenosis
def: "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow." [HPO:probinson]
xref: Fyler:1430
xref: MSH:D021921
xref: SNOMEDCT_US:268185002
xref: UMLS:C0003499
is_a: HP:0001650 ! Aortic valve stenosis
created_by: peter
creation_date: 2008-03-18T08:54:00Z

[Term]
id: HP:0004382
name: Mitral valve calcification
alt_id: HP:0005149
alt_id: HP:0200129
def: "Abnormal calcification of the mitral valve." [HPO:probinson]
xref: SNOMEDCT_US:473372009
xref: UMLS:C0919718
is_a: HP:0001633 ! Abnormal mitral valve morphology
is_a: HP:0005146 ! Cardiac valve calcification
created_by: peter
creation_date: 2008-03-18T08:55:00Z

[Term]
id: HP:0004383
name: Hypoplastic left heart
def: "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta." [HPO:probinson, PMID:22192721]
comment: Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes.
synonym: "Heart left ventricle hypoplasia" EXACT []
synonym: "Left ventricular hypoplasia" EXACT []
synonym: "Underdeveloped left heart" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D018636
xref: SNOMEDCT_US:62067003
xref: UMLS:C0152101
is_a: HP:0001961 ! Hypoplastic heart
is_a: HP:0045017 ! Congenital malformation of the left heart
created_by: peter
creation_date: 2008-03-18T08:56:00Z

[Term]
id: HP:0004384
name: Type I truncus arteriosus
def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries." [DDD:dbrown, HPO:probinson]
comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
synonym: "Persistent truncus arteriosus type I" EXACT []
synonym: "Type 1 truncus arteriosus" EXACT []
xref: Fyler:0510
xref: Fyler:510
xref: UMLS:C1834934
is_a: HP:0001660 ! Truncus arteriosus
created_by: peter
creation_date: 2008-03-18T08:57:00Z

[Term]
id: HP:0004385
name: Protracted diarrhea
xref: SNOMEDCT_US:236077008
xref: UMLS:C0473133
is_a: HP:0002014 ! Diarrhea
created_by: peter
creation_date: 2008-03-18T09:00:00Z

[Term]
id: HP:0004386
name: Gastrointestinal inflammation
def: "Inflammation of the alimentary part of the gastrointestinal system." []
synonym: "Gastrointestinal inflammation" EXACT layperson []
synonym: "GI inflammation" EXACT HP:0045077 []
xref: UMLS:C1535950
is_a: HP:0012649 ! Increased inflammatory response
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract
created_by: peter
creation_date: 2008-03-18T09:01:00Z

[Term]
id: HP:0004387
name: Enterocolitis
def: "An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine)." [HPO:sdoelken]
xref: MSH:D004760
xref: SNOMEDCT_US:43752006
xref: UMLS:C0014356
is_a: HP:0100282 ! Acute colitis
created_by: peter
creation_date: 2008-03-18T09:02:00Z

[Term]
id: HP:0004388
name: Microcolon
def: "A colon of abnormally small caliber." [pmid:3484569]
synonym: "Microcolon on contrast enema" RELATED [HPO:skoehler]
xref: MSH:C562563
xref: SNOMEDCT_US:18389004
xref: UMLS:C0266200
xref: UMLS:C3553395
is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon
created_by: peter
creation_date: 2008-03-18T09:02:00Z

[Term]
id: HP:0004389
name: Intestinal pseudo-obstruction
def: "A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded." [HPO:probinson]
synonym: "Intestinal pseudoobstruction" EXACT []
xref: MSH:D007418
xref: SNOMEDCT_US:235825006
xref: SNOMEDCT_US:715201005
xref: UMLS:C0021847
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0002579 ! Gastrointestinal dysmotility
created_by: peter
creation_date: 2008-03-18T09:03:00Z

[Term]
id: HP:0004390
name: Hamartomatous polyposis
def: "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture." [HPO:sdoelken, pmid:17768394]
comment: Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps.
synonym: "Gastrointestinal hamartoma" EXACT []
synonym: "Gastrointestinal hamartomatous polyps" RELATED [HPO:skoehler]
synonym: "Hamartomatous polyps" EXACT []
xref: SNOMEDCT_US:27391005
xref: UMLS:C0334092
xref: UMLS:C3277418
is_a: HP:0005266 ! Intestinal polyp
is_a: HP:0010566 ! Hamartoma
created_by: peter
creation_date: 2008-03-18T09:04:00Z

[Term]
id: HP:0004392
name: Prune belly
def: "A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants." [HPO:probinson]
comment: Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles.
synonym: "Prune belly" EXACT layperson []
xref: MSH:D011535
xref: SNOMEDCT_US:5187006
xref: UMLS:C0033770
is_a: HP:0004298 ! Abnormality of the abdominal wall
created_by: peter
creation_date: 2008-03-18T09:08:00Z

[Term]
id: HP:0004394
name: Multiple gastric polyps
xref: MSH:C562464
xref: SNOMEDCT_US:78809005
xref: SNOMEDCT_US:87252009
xref: UMLS:C0236048
is_a: HP:0006753 ! Neoplasm of the stomach
created_by: peter
creation_date: 2008-03-18T09:11:00Z

[Term]
id: HP:0004395
name: Malnutrition
synonym: "Malnutrition" EXACT layperson []
xref: MSH:D044342
xref: SNOMEDCT_US:248325000
xref: SNOMEDCT_US:2492009
xref: SNOMEDCT_US:47563007
xref: SNOMEDCT_US:65404009
xref: SNOMEDCT_US:70241007
xref: UMLS:C0162429
is_a: HP:0011458 ! Abdominal symptom
created_by: peter
creation_date: 2008-03-18T09:12:00Z

[Term]
id: HP:0004396
name: Poor appetite
synonym: "Decreased appetite" EXACT layperson []
synonym: "No appetite" RELATED layperson []
synonym: "Poor appetite" EXACT layperson []
xref: SNOMEDCT_US:64379006
xref: UMLS:C0232462
is_a: HP:0011458 ! Abdominal symptom
created_by: peter
creation_date: 2008-03-18T09:12:00Z

[Term]
id: HP:0004397
name: Ectopic anus
def: "Abnormal displacement or malposition of the anus." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal anus position" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Anus malposition" EXACT []
xref: SNOMEDCT_US:5153001
xref: UMLS:C0266231
is_a: HP:0004378 ! Abnormality of the anus
created_by: peter
creation_date: 2008-03-18T09:13:00Z

[Term]
id: HP:0004398
name: Peptic ulcer
def: "An ulcer of the gastrointestinal tract." [HPO:probinson]
comment: A peptic ulcer is defined as an erosion of the mucosa of the gastrointestinal tract, and can occur as esophageal ulcer, gastric ulcer, duodenal ulcer, and Meckel's Diverticulum ulcer.
synonym: "Sore in the lining of gastrointestinal tract" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D010437
xref: SNOMEDCT_US:13200003
xref: UMLS:C0030920
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract
created_by: peter
creation_date: 2008-03-18T09:14:00Z

[Term]
id: HP:0004399
name: Congenital pyloric atresia
def: "Congenital atresia of the pylorus." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4025327
is_a: HP:0004400 ! Abnormality of the pylorus
created_by: peter
creation_date: 2008-03-18T09:15:00Z

[Term]
id: HP:0004400
name: Abnormality of the pylorus
def: "An abnormality of the pylorus." [HPO:probinson]
xref: UMLS:C4025326
is_a: HP:0002577 ! Abnormality of the stomach
created_by: peter
creation_date: 2008-03-18T09:15:00Z

[Term]
id: HP:0004401
name: Meconium ileus
alt_id: HP:0002610
alt_id: HP:0004402
def: "Obstruction of the intestine due to abnormally thick meconium." [HPO:probinson]
comment: Obstruction of the intestine is known as ileus.
synonym: "Distal intestinal obstruction syndrome" RELATED []
synonym: "Meconium ileus in neonates" EXACT []
synonym: "Meconium ileus on ultrasonography" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:206523001
xref: SNOMEDCT_US:233662009
xref: SNOMEDCT_US:86092005
xref: UMLS:C0398349
xref: UMLS:C2939175
xref: UMLS:C3553397
is_a: HP:0010676 ! Mechanical ileus
created_by: peter
creation_date: 2008-03-18T09:16:00Z

[Term]
id: HP:0004403
name: Proximal esophageal atresia
xref: UMLS:C4025325
is_a: HP:0002032 ! Esophageal atresia
created_by: peter
creation_date: 2008-03-18T09:17:00Z

[Term]
id: HP:0004404
name: Abnormal nipple morphology
def: "An abnormality of the nipple." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the nipple" EXACT layperson []
xref: SNOMEDCT_US:700153004
xref: UMLS:C3839073
is_a: HP:0031093 ! Abnormal breast morphology
created_by: peter
creation_date: 2008-03-18T09:18:00Z

[Term]
id: HP:0004405
name: Prominent nipples
subset: hposlim_core
synonym: "Prominent nipples" EXACT layperson []
xref: UMLS:C1855513
is_a: HP:0004404 ! Abnormal nipple morphology
created_by: peter
creation_date: 2008-03-18T09:19:00Z

[Term]
id: HP:0004406
name: Spontaneous, recurrent epistaxis
alt_id: HP:0003684
synonym: "Recurrent epistaxes" EXACT []
synonym: "Recurrent epistaxis" EXACT []
synonym: "Recurring nosebleed" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Spontaneous, recurrent nosebleed" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3809715
is_a: HP:0000421 ! Epistaxis
created_by: peter
creation_date: 2008-03-18T09:20:00Z

[Term]
id: HP:0004407
name: Bony paranasal bossing
xref: UMLS:C1857499
is_a: HP:0012812 ! Fullness of paranasal tissue
created_by: peter
creation_date: 2008-03-18T09:20:00Z

[Term]
id: HP:0004408
name: Abnormality of the sense of smell
alt_id: HP:0004410
def: "An anomaly in the ability to perceive and distinguish scents (odors)." []
subset: hposlim_core
synonym: "Abnormal sense of smell" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of olfaction" EXACT []
synonym: "Abnormality of the sense of smell" EXACT layperson []
synonym: "Smell defect" EXACT layperson []
xref: UMLS:C4021655
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: peter
creation_date: 2008-03-18T09:21:00Z

[Term]
id: HP:0004409
name: Hyposmia
def: "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased smell sensation" EXACT []
synonym: "Loss of smell" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Sense of smell impaired" EXACT []
xref: SNOMEDCT_US:83156004
xref: UMLS:C2364082
is_a: HP:0004408 ! Abnormality of the sense of smell
created_by: peter
creation_date: 2008-03-18T09:21:00Z

[Term]
id: HP:0004411
name: Deviated nasal septum
def: "Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum." [HPO:probinson]
subset: hposlim_core
synonym: "Crooked nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deviated nasal septum" EXACT layperson []
synonym: "Deviated septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:126660000
xref: UMLS:C0549397
is_a: HP:0000419 ! Abnormality of the nasal septum
created_by: peter
creation_date: 2008-03-18T09:23:00Z

[Term]
id: HP:0004414
name: Abnormality of the pulmonary artery
def: "An abnormality of the pulmonary artery." [HPO:probinson]
synonym: "Abnormality of lung artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:128588008
xref: SNOMEDCT_US:198914002
xref: SNOMEDCT_US:36110001
xref: UMLS:C0009681
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature
created_by: peter
creation_date: 2008-03-18T09:28:00Z

[Term]
id: HP:0004415
name: Pulmonary artery stenosis
def: "An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [HPO:probinson]
synonym: "Narrowing of lung artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:1622
xref: MSH:D000071079
xref: SNOMEDCT_US:95441000
xref: UMLS:C0238397
is_a: HP:0030966 ! Abnormal pulmonary artery morphology
created_by: peter
creation_date: 2008-03-18T09:28:00Z

[Term]
id: HP:0004416
name: Precocious atherosclerosis
synonym: "Premature atherosclerosis" EXACT []
synonym: "Premature plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021654
xref: UMLS:C4280264
is_a: HP:0002621 ! Atherosclerosis
created_by: peter
creation_date: 2008-03-18T09:28:00Z

[Term]
id: HP:0004417
name: Intermittent claudication
def: "Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still." [PMID:27770207]
comment: Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis.
xref: MSH:D007383
xref: SNOMEDCT_US:63491006
xref: UMLS:C0021775
is_a: HP:0025323 ! Abnormal arterial physiology
created_by: peter
creation_date: 2008-03-18T09:29:00Z

[Term]
id: HP:0004418
name: Thrombophlebitis
def: "Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson]
xref: MSH:D013924
xref: SNOMEDCT_US:64156001
xref: UMLS:C0040046
is_a: HP:0004936 ! Venous thrombosis
created_by: peter
creation_date: 2008-03-18T09:30:00Z

[Term]
id: HP:0004419
name: Recurrent thrombophlebitis
def: "Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson]
synonym: "Recurrent phlebitis" EXACT []
synonym: "Recurrent thrombosis" EXACT []
xref: UMLS:C3550150
is_a: HP:0004418 ! Thrombophlebitis
created_by: peter
creation_date: 2008-03-18T09:31:00Z

[Term]
id: HP:0004420
name: Arterial thrombosis
def: "The formation of a blood clot inside an artery." [HPO:probinson]
synonym: "Blood clot in artery" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:65198009
xref: UMLS:C0151942
is_a: HP:0001977 ! Abnormal thrombosis
created_by: peter
creation_date: 2008-03-18T09:32:00Z

[Term]
id: HP:0004421
name: Elevated systolic blood pressure
alt_id: HP:0004956
def: "Abnormal increase in systolic blood pressure." [HPO:probinson]
comment: Normal systolic blood pressure is less than 120 mmHg in adults.
synonym: "Elevated systolic BP" EXACT HP:0045077 []
xref: UMLS:C1840374
is_a: HP:0032263 ! Increased blood pressure
created_by: peter
creation_date: 2008-03-18T09:33:00Z

[Term]
id: HP:0004422
name: Biparietal narrowing
def: "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators]
synonym: "Decreased width of the skull" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1854418
xref: UMLS:C4280532
is_a: HP:0002648 ! Abnormality of calvarial morphology
created_by: peter
creation_date: 2008-03-18T09:35:00Z

[Term]
id: HP:0004423
name: Cranium bifidum occultum
xref: MSH:C566826
xref: SNOMEDCT_US:718099006
xref: UMLS:C1868598
is_a: HP:0002084 ! Encephalocele
created_by: peter
creation_date: 2008-03-18T09:37:00Z

[Term]
id: HP:0004425
name: Flat forehead
alt_id: HP:0004659
def: "A forehead with abnormal flatness." [HPO:probinson]
synonym: "Flat forehead" EXACT layperson []
synonym: "Flattened forehead" EXACT layperson []
synonym: "Frontal flattening" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1857485
is_a: HP:0000290 ! Abnormality of the forehead
created_by: peter
creation_date: 2008-03-18T09:41:00Z

[Term]
id: HP:0004426
name: Abnormality of the cheek
def: "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface" []
synonym: "Abnormality of the cheek" EXACT layperson []
synonym: "Abnormality of the cheeks" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the cheeks" NARROW layperson []
synonym: "Deformity of the cheeks" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the cheeks" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025324
is_a: HP:0000309 ! Abnormality of the midface
created_by: peter
creation_date: 2008-03-18T09:42:00Z

[Term]
id: HP:0004428
name: Elfin facies
def: "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations." [HPO:probinson]
subset: hposlim_core
synonym: "Elf-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Elf-like facial features" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Leprechaun facies" RELATED [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:69288002
xref: UMLS:C0332606
is_a: HP:0001999 ! Abnormal facial shape
created_by: peter
creation_date: 2008-03-18T09:43:00Z

[Term]
id: HP:0004429
name: Recurrent viral infections
alt_id: HP:0005364
def: "Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection." [HPO:probinson]
xref: UMLS:C1837066
is_a: HP:0002719 ! Recurrent infections
created_by: peter
creation_date: 2008-03-18T09:45:00Z

[Term]
id: HP:0004430
name: Severe combined immunodeficiency
def: "A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems." [HPO:curators]
synonym: "Immunodeficiency, severe combined" EXACT []
xref: MSH:D016511
xref: SNOMEDCT_US:31323000
xref: UMLS:C0085110
is_a: HP:0005387 ! Combined immunodeficiency
created_by: peter
creation_date: 2008-03-18T09:46:00Z

[Term]
id: HP:0004431
name: Complement deficiency
def: "An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins." [PMID:24161035]
xref: SNOMEDCT_US:24743004
xref: UMLS:C0272242
is_a: HP:0005339 ! Abnormality of complement system
created_by: peter
creation_date: 2008-03-18T09:51:00Z

[Term]
id: HP:0004432
name: Agammaglobulinemia
alt_id: HP:0008328
def: "Absence or extremely low level of IgA, IgM, and IgM in the circulation." [HPO:probinson]
synonym: "Agammaglobulinaemia" EXACT []
xref: MSH:D000361
xref: SNOMEDCT_US:119249001
xref: UMLS:C0001768
is_a: HP:0004313 ! Decreased antibody level in blood
created_by: peter
creation_date: 2008-03-18T09:47:00Z

[Term]
id: HP:0004433
name: Secretory IgA deficiency
def: "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens." [HPO:probinson, pmid:2251975]
xref: MSH:C562869
xref: SNOMEDCT_US:234554004
xref: UMLS:C0398709
is_a: HP:0002720 ! Decreased circulating IgA level
created_by: peter
creation_date: 2008-03-18T09:48:00Z

[Term]
id: HP:0004434
name: C8 deficiency
def: "A reduced level of the complement component C8 in circulation." [PMID:8098723]
comment: The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections.
xref: UMLS:C3151082
is_a: HP:0004431 ! Complement deficiency
created_by: peter
creation_date: 2008-03-18T09:53:00Z

[Term]
id: HP:0004437
name: Cranial hyperostosis
alt_id: HP:0002698
def: "Excessive growth of the bones of cranium, i.e., of the skull." [HPO:probinson]
synonym: "Enlargement of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Excessive growth of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of cranial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of cranial vault" EXACT []
synonym: "Hypertrophy of cranial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of cranial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick skull bones" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1832451
xref: UMLS:C4280528
xref: UMLS:C4280529
xref: UMLS:C4280530
xref: UMLS:C4280531
is_a: HP:0002683 ! Abnormality of the calvaria
is_a: HP:0100774 ! Hyperostosis
created_by: peter
creation_date: 2008-03-18T09:57:00Z

[Term]
id: HP:0004438
name: Hyperostosis frontalis interna
def: "Bony overgrowth of the internal (endosteal) surface of the frontal bone." [HPO:probinson]
synonym: "Enlargement of the inner surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Excessive growth of inner surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of the internal surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of the internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of the internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of the inner surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of the inside of the frontal bone" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Thick inner surface of the frontal bone" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463]
xref: MSH:D006957
xref: SNOMEDCT_US:82054006
xref: UMLS:C0020494
xref: UMLS:C4280524
xref: UMLS:C4280525
xref: UMLS:C4280526
xref: UMLS:C4280527
is_a: HP:0004437 ! Cranial hyperostosis
created_by: peter
creation_date: 2008-03-18T09:57:00Z

[Term]
id: HP:0004439
name: Craniofacial dysostosis
def: "A characteristic appearance resulting from defective ossification of craniofacial bones." [HPO:probinson]
comment: Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future.
synonym: "Crouzon syndrome" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D003394
xref: SNOMEDCT_US:28861008
xref: UMLS:C0010273
is_a: HP:0000271 ! Abnormality of the face
is_a: HP:0000929 ! Abnormality of the skull
created_by: peter
creation_date: 2008-03-18T09:58:00Z

[Term]
id: HP:0004440
name: Coronal craniosynostosis
alt_id: HP:0002675
alt_id: HP:0002685
alt_id: HP:0002739
alt_id: HP:0004441
def: "Premature closure of the coronal suture of skull." [HPO:probinson]
subset: hposlim_core
synonym: "Coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Craniosynostosis of coronal suture" EXACT []
xref: UMLS:C1856266
is_a: HP:0001363 ! Craniosynostosis
created_by: peter
creation_date: 2008-03-18T09:59:00Z

[Term]
id: HP:0004442
name: Sagittal craniosynostosis
def: "A kind of craniosynostosis affecting the sagittal suture." [HPO:probinson]
subset: hposlim_core
synonym: "Craniosynostosis, sagittal" EXACT []
synonym: "Craniosynostosis, sagittal suture" EXACT []
synonym: "Early closure of midline skull joint" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Midline skull joint closes early" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Sagittal suture synostosis" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:109418001
xref: UMLS:C0432123
is_a: HP:0001363 ! Craniosynostosis
created_by: peter
creation_date: 2008-03-18T10:01:00Z

[Term]
id: HP:0004443
name: Lambdoidal craniosynostosis
alt_id: HP:0004486
def: "A kind of craniosynostosis affecting the lambdoidal suture." [HPO:probinson]
subset: hposlim_core
synonym: "Lambdoid suture craniosynostosis" EXACT []
synonym: "Lambdoid suture synostosis" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D003398
xref: SNOMEDCT_US:109417006
xref: UMLS:C1833340
is_a: HP:0001363 ! Craniosynostosis
created_by: peter
creation_date: 2008-03-18T10:01:00Z

[Term]
id: HP:0004444
name: Spherocytosis
alt_id: HP:0004816
def: "The presence of erythrocytes that are sphere-shaped." [HPO:probinson]
comment: Erythrocytes are normally biconcave rather than spherical.
xref: SNOMEDCT_US:17235000
xref: UMLS:C0553720
is_a: HP:0004447 ! Poikilocytosis
created_by: peter
creation_date: 2008-03-18T10:05:00Z

[Term]
id: HP:0004445
name: Elliptocytosis
alt_id: HP:0004837
def: "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear." [HPO:probinson, pmid:16304353]
synonym: "Elliptocyte" RELATED []
synonym: "Hereditary elliptocytosis" RELATED []
synonym: "Ovalocytosis" EXACT [https://en.wikipedia.org/wiki/hereditary_elliptocytosis, ORCID:0000-0001-5208-3432]
xref: MSH:D004612
xref: SNOMEDCT_US:178935009
xref: SNOMEDCT_US:191169008
xref: SNOMEDCT_US:250242004
xref: UMLS:C0013902
xref: UMLS:C0427480
is_a: HP:0004447 ! Poikilocytosis
created_by: peter
creation_date: 2008-03-18T10:05:00Z

[Term]
id: HP:0004446
name: Stomatocytosis
alt_id: HP:0004801
def: "The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear." [HPO:probinson, pmid:16304353]
synonym: "erythrocyte stomatocytes" EXACT []
synonym: "Red cell stomatocytosis" EXACT []
xref: UMLS:C0677598
is_a: HP:0004447 ! Poikilocytosis
created_by: peter
creation_date: 2008-03-18T10:05:00Z

[Term]
id: HP:0004447
name: Poikilocytosis
def: "The presence of abnormally shaped erythrocytes." [HPO:probinson]
comment: General description for abnormally shaped erythrocytes.
xref: SNOMEDCT_US:165479004
xref: UMLS:C0221281
is_a: HP:0001877 ! Abnormal erythrocyte morphology
created_by: peter
creation_date: 2008-03-18T10:06:00Z

[Term]
id: HP:0004448
name: Fulminant hepatic failure
def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators]
xref: MSH:D017114
xref: SNOMEDCT_US:197270009
xref: SNOMEDCT_US:235884008
xref: UMLS:C0162557
is_a: HP:0006554 ! Acute hepatic failure
created_by: peter
creation_date: 2008-03-18T10:09:00Z

[Term]
id: HP:0004450
name: Preauricular skin furrow
def: "A groove of the skin immediately in front of the ear." [HPO:probinson]
synonym: "Preauricular skin furrows" EXACT []
synonym: "Preauricular skin groove" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Preauricular skin sulcus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Skin groove behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Skin sulcus behind the ear" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1852411
is_a: HP:0000383 ! Abnormality of periauricular region

[Term]
id: HP:0004451
name: Postauricular skin tag
def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear)." [HPO:probinson]
synonym: "Postauricular acrochordon" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Postauricular fibroepithelial polyp" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Skin tag behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025323
is_a: HP:0000383 ! Abnormality of periauricular region

[Term]
id: HP:0004452
name: Abnormality of the middle ear ossicles
alt_id: HP:0001759
def: "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)." [HPO:probinson]
subset: hposlim_core
synonym: "Malformed ossicles" EXACT []
synonym: "Ossicular malformation" EXACT []
xref: UMLS:C1836678
is_a: HP:0008609 ! Morphological abnormality of the middle ear

[Term]
id: HP:0004453
name: Overfolding of the superior helices
def: "A condition in which the superior portion of the helix is folded over to a greater degree than normal." [HPO:probinson]
synonym: "Overfolding of superior helix" EXACT []
synonym: "Reduced anterior-posterior diameter of vertebral bodies" EXACT []
xref: UMLS:C1865304
is_a: HP:0000396 ! Overfolded helix

[Term]
id: HP:0004454
name: Abnormal middle ear reflexes
xref: UMLS:C1970887
is_a: HP:0011452 ! Functional abnormality of the middle ear

[Term]
id: HP:0004458
name: Dilatated internal auditory canal
def: "The presence of a dilated inner part of external acoustic meatus." [HPO:probinson]
synonym: "Bulbous internal auditory canal" EXACT []
synonym: "Enlarged internal auditory canal" EXACT []
xref: UMLS:C2676973
is_a: HP:0011384 ! Abnormality of the internal auditory canal

[Term]
id: HP:0004459
name: Exostosis of the external auditory canal
def: "A benign bony growth projecting outward from a bone surface within the external auditory canal." [HPO:probinson]
synonym: "External auditory canal exostoses" EXACT []
xref: SNOMEDCT_US:19560007
xref: UMLS:C0155411
is_a: HP:0000372 ! Abnormality of the auditory canal
is_a: HP:0040095 ! Neoplasm of the outer ear
is_a: HP:0100777 ! Exostoses

[Term]
id: HP:0004461
name: Congenital earlobe sinuses
synonym: "Posterior wedging" EXACT []
xref: UMLS:C1969394
is_a: HP:0000363 ! Abnormality of earlobe

[Term]
id: HP:0004463
name: Absent brainstem auditory responses
def: "Lack of measurable response to stimulation of auditory evoked potentials." [HPO:probinson]
synonym: "No auditory brainstem response" EXACT []
xref: UMLS:C1836742
is_a: HP:0006958 ! Abnormal auditory evoked potentials

[Term]
id: HP:0004464
name: Postauricular pit
def: "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken]
subset: hposlim_core
synonym: "Pit behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Postauricular earpits" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Postauricular fistula" EXACT []
synonym: "Posterior auricular pit" EXACT []
synonym: "Posterior auricular sinus" EXACT []
xref: SNOMEDCT_US:43887004
xref: UMLS:C0395905
is_a: HP:0100277 ! Periauricular skin pits

[Term]
id: HP:0004466
name: Prolonged brainstem auditory evoked potentials
xref: UMLS:C4025322
is_a: HP:0006958 ! Abnormal auditory evoked potentials

[Term]
id: HP:0004467
name: Preauricular pit
alt_id: HP:0000392
alt_id: HP:0004460
alt_id: HP:0005118
alt_id: HP:0008552
alt_id: HP:0008578
def: "Small indentation anterior to the insertion of the ear." [HPO:sdoelken, pmid:19152421]
comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst.
synonym: "Ear pit" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Pit in front of the ear" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Preauricular earpits" EXACT []
synonym: "Preauricular fistulas" EXACT []
synonym: "Preauricular pits" EXACT []
synonym: "Preauricular sinus" EXACT []
xref: MSH:C563015
xref: SNOMEDCT_US:1955003
xref: SNOMEDCT_US:204271000
xref: SNOMEDCT_US:204272007
xref: UMLS:C0266610
xref: UMLS:C0266625
xref: UMLS:C0546969
is_a: HP:0100277 ! Periauricular skin pits

[Term]
id: HP:0004468
name: Anomalous tracheal cartilage
def: "An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue)." []
synonym: "Abnormal tracheal cartilaginous ring" EXACT []
xref: UMLS:C1863406
is_a: HP:0002778 ! Abnormal trachea morphology
created_by: HPO:probinson

[Term]
id: HP:0004469
name: Chronic bronchitis
def: "Chronic inflammation of the bronchi." [HPO:probinson]
xref: MSH:D029481
xref: SNOMEDCT_US:63480004
xref: UMLS:C0008677
is_a: HP:0012387 ! Bronchitis

[Term]
id: HP:0004470
name: Atretic occipital cephalocele
def: "A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues." [HPO:probinson]
xref: UMLS:C1836600
is_a: HP:0011815 ! Cephalocele

[Term]
id: HP:0004471
name: Aplasia cutis congenita over the scalp vertex
def: "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline." [HPO:curators]
synonym: "Absent cutis congenita of vertex" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Aplasia cutis congenita of vertex" EXACT []
xref: UMLS:C1970112
is_a: HP:0007385 ! Aplasia cutis congenita of scalp

[Term]
id: HP:0004472
name: Mandibular hyperostosis
def: "Hyperostosis (bony overgrowth) of the mandible." [HPO:probinson]
comment: This bundled term will be made obsolete in future versions of the HPO.
synonym: "Excessive growth of mandibular bone" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of lower jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of mandibular bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of lower jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of mandible" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of mandibular bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of mandibular bone" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Thick lower jaw bone" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick mandibular bone" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025321
xref: UMLS:C4280521
xref: UMLS:C4280522
xref: UMLS:C4280523
is_a: HP:0005465 ! Facial hyperostosis

[Term]
id: HP:0004474
name: Persistent open anterior fontanelle
alt_id: HP:0004475
alt_id: HP:0004483
def: "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [HPO:probinson]
synonym: "Anterior fontanelle open in adults" RELATED []
synonym: "Front fontanelle stays open" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Persistent, open anterior fontanel" EXACT []
xref: UMLS:C1849537
is_a: HP:0001476 ! Delayed closure of the anterior fontanelle

[Term]
id: HP:0004476
name: Aplasia cutis congenita over parietal area
def: "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area." [HPO:curators]
synonym: "Absent cutis congenita over parietal area" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1863492
is_a: HP:0007385 ! Aplasia cutis congenita of scalp

[Term]
id: HP:0004478
name: Ethmoidal encephalocele
xref: UMLS:C1843495
is_a: HP:0011817 ! Basal encephalocele

[Term]
id: HP:0004481
name: Progressive macrocephaly
alt_id: HP:0000261
def: "The progressive development of an abnormally large skull." [HPO:probinson]
synonym: "Macrocephaly, progressive" EXACT []
synonym: "Progressively abnormally enlarging cranium" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Progressively abnormally enlarging skull" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1859896
is_a: HP:0000256 ! Macrocephaly

[Term]
id: HP:0004482
name: Relative macrocephaly
alt_id: HP:0000257
alt_id: HP:0001364
def: "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators]
synonym: "Disproportionately large head" EXACT []
synonym: "Macrocephaly, relative" EXACT []
synonym: "Relatively large head" EXACT layperson []
xref: SNOMEDCT_US:3961000119101
xref: UMLS:C1849075
is_a: HP:0000256 ! Macrocephaly

[Term]
id: HP:0004484
name: Craniofacial asymmetry
def: "Asymmetry of the bones of the skull and the face." [HPO:curators]
synonym: "Abnormality of craniofacial shape" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of craniofacial shape" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven craniofacial structures" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025320
is_a: HP:0000267 ! Cranial asymmetry
is_a: HP:0000324 ! Facial asymmetry
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0004485
name: Cessation of head growth
def: "Stagnation of head growth seen as flattening of the head circumference curve." [HPO:probinson]
synonym: "Cranium stopped growing" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Head stopped growing" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Skull stopped growing" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025319
is_a: HP:0005484 ! Postnatal microcephaly

[Term]
id: HP:0004487
name: Acrobrachycephaly
def: "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures." [HPO:curators]
xref: SNOMEDCT_US:711039004
xref: UMLS:C1863395
is_a: HP:0000248 ! Brachycephaly

[Term]
id: HP:0004488
name: Macrocephaly at birth
def: "The presence of an abnormally large skull with onset at birth." [HPO:probinson]
subset: hposlim_core
synonym: "Big cranium present at birth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Big cranium present since birth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Big head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Big head present since birth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Big skull present at birth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Big skull present since birth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Congenital large cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Congenital large head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Congenital large skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Congenital macrocephaly" EXACT []
synonym: "Head circumference large for gestational age" EXACT []
synonym: "Large cranium present at birth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large cranium present since birth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Large head present since birth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Large skull present at birth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large skull present since birth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1836599
is_a: HP:0000256 ! Macrocephaly

[Term]
id: HP:0004490
name: Calvarial hyperostosis
def: "Excessive growth of the calvaria." [HPO:probinson]
comment: The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw.
synonym: "Enlargement of calvarial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Excessive growth of calvarial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of calvarial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of calvarial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of calvarial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of calvarial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of skullcap" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick calvarial bones" BROAD [ORCID:0000-0001-5889-4463]
xref: MSH:C537963
xref: UMLS:C1863351
xref: UMLS:C4280519
xref: UMLS:C4280520
is_a: HP:0004437 ! Cranial hyperostosis

[Term]
id: HP:0004491
name: Large posterior fontanelle
def: "An enlargement of the posterior fontanelle relative to age-dependent norms." [HPO:probinson]
synonym: "Large posterior fontanel" EXACT []
xref: UMLS:C1855233
is_a: HP:0000239 ! Large fontanelles

[Term]
id: HP:0004492
name: Widely patent fontanelles and sutures
alt_id: HP:0002646
alt_id: HP:0005492
def: "An abnormally increased width of the cranial fontanelles and sutures." [HPO:probinson]
comment: This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures.
synonym: "Widely patent fontanels and sutures" EXACT []
xref: UMLS:C1849300
is_a: HP:0000239 ! Large fontanelles
is_a: HP:0010537 ! Wide cranial sutures

[Term]
id: HP:0004493
name: Craniofacial hyperostosis
def: "Excessive growth of the craniofacial bones." [HPO:probinson]
subset: hposlim_core
synonym: "Enlargement of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Excessive bone growth of the skull and face" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Excessive growth of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of craniofacial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of craniofacial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of craniofacial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1868085
xref: UMLS:C4280516
xref: UMLS:C4280517
xref: UMLS:C4280518
is_a: HP:0000271 ! Abnormality of the face
is_a: HP:0004437 ! Cranial hyperostosis
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0004495
name: Thin anteverted nares
comment: This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations.
xref: UMLS:C1834056
is_a: HP:0000463 ! Anteverted nares

[Term]
id: HP:0004496
name: Posterior choanal atresia
def: "Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture)." [HPO:curators]
xref: MSH:C562435
xref: UMLS:C0220723
is_a: HP:0000453 ! Choanal atresia

[Term]
id: HP:0004499
name: Chronic rhinitis due to narrow nasal airway
synonym: "Chronic nasal inflammation due to narrow nasal airway" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025318
is_a: HP:0002257 ! Chronic rhinitis

[Term]
id: HP:0004502
name: Bilateral choanal atresia
def: "Bilateral absence (atresia) of the posterior nasal aperture (choana)." [HPO:probinson]
synonym: "Bilateral blockage of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Bilateral obstruction of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025317
is_a: HP:0000453 ! Choanal atresia

[Term]
id: HP:0004510
name: Pancreatic islet-cell hyperplasia
alt_id: HP:0001736
alt_id: HP:0006275
def: "Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells." [HPO:probinson]
comment: The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin).
synonym: "Hyperplastic islets of langerhans" EXACT []
synonym: "Hypertrophic pancreatic islets" EXACT []
synonym: "Islet of Langerhans hyperplasia" EXACT []
synonym: "Islets of langerhans hypertrophy" EXACT []
synonym: "Pancreatic islet-cell hypertrophy" EXACT []
xref: UMLS:C0597167
is_a: HP:0006476 ! Abnormality of the pancreatic islet cells

[Term]
id: HP:0004523
name: Long eyebrows
def: "Increased length of the hairs of the eyebrows." [HPO:probinson]
synonym: "Elongated eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased horizontal length of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased transverse length of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long eyebrows" EXACT layperson []
xref: UMLS:C3280131
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0004524
name: Temporal hypotrichosis
def: "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)." [HPO:curators]
synonym: "Reduced hair growth in temporal region" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025316
is_a: HP:0011361 ! Congenital abnormal hair pattern

[Term]
id: HP:0004527
name: Large clumps of pigment irregularly distributed along hair shaft
synonym: "Large clumps of pigment irregularly distributed along hair shaft" EXACT layperson []
xref: UMLS:C4025315
is_a: HP:0002220 ! Melanin pigment aggregation in hair shafts

[Term]
id: HP:0004528
name: Generalized hypotrichosis
alt_id: HP:0004513
def: "Reduced or lacking hair growth in a generalized distribution." [HPO:probinson]
synonym: "Hypotrichosis, generalized" EXACT []
xref: UMLS:C4021653
is_a: HP:0001006 ! Hypotrichosis

[Term]
id: HP:0004529
name: Atrophic, patchy alopecia
xref: UMLS:C4025314
is_a: HP:0002232 ! Patchy alopecia

[Term]
id: HP:0004532
name: Sacral hypertrichosis
def: "Excessive, increased hair growth located in the sacral region." [HPO:probinson]
xref: UMLS:C4025313
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004535
name: Anterior cervical hypertrichosis
alt_id: HP:0004517
alt_id: HP:0004773
def: "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence." [HPO:probinson, pmid:20400390]
synonym: "Congenital cervical hypertrichosis" EXACT []
synonym: "Hypertrichosis, congenital anterior cervical" EXACT []
xref: MSH:C538390
xref: UMLS:C1838123
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004540
name: Congenital, generalized hypertrichosis
alt_id: HP:0004547
alt_id: HP:0004769
def: "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth." [HPO:probinson]
comment: Hypertrichosis refers to excessive, abnormal hairiness.
synonym: "Congenital generalized hypertrichosis" EXACT []
synonym: "Hypertrichosis universalis" EXACT []
xref: MSH:C538388
xref: UMLS:C1855900
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004544
name: Pointed frontal hairline
synonym: "Pointed hairline at front of head" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025312
is_a: HP:0000599 ! Abnormality of the frontal hairline

[Term]
id: HP:0004552
name: Scarring alopecia of scalp
synonym: "Cicatricial alopecia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hair loss on scalp from scarring condition" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C3806301
is_a: HP:0000987 ! Atypical scarring of skin
is_a: HP:0002293 ! Alopecia of scalp

[Term]
id: HP:0004554
name: Generalized hypertrichosis
alt_id: HP:0004543
alt_id: HP:0004766
def: "Generalized excessive, abnormal hairiness." [HPO:probinson]
xref: UMLS:C3277940
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004557
name: Anterior vertebral fusion
xref: UMLS:C1969393
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0004558
name: Cervical platyspondyly
alt_id: HP:0005641
def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine." [HPO:probinson]
synonym: "Flattened cervical vertebral bodies" EXACT []
xref: UMLS:C1856641
is_a: HP:0000926 ! Platyspondyly
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0004562
name: Beaking of vertebral bodies T12-L3
xref: UMLS:C1854941
is_a: HP:0004568 ! Beaking of vertebral bodies

[Term]
id: HP:0004563
name: Increased spinal bone density
def: "Increased bone density affecting the bones of the spine (vertebral column)." [HPO:curators]
synonym: "Compact spinal bone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Concrete spinal bone" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Dense spinal bone" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Eburnation of spinal bone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased density of spinal bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "increased spinal bone density Z" RELATED []
synonym: "Ivory spinal bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Sclerosis of spinal bone" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4020828
xref: UMLS:C4280254
xref: UMLS:C4280513
xref: UMLS:C4280514
xref: UMLS:C4280515
is_a: HP:0004330 ! Increased skull ossification

[Term]
id: HP:0004565
name: Severe platyspondyly
alt_id: HP:0004564
synonym: "platyspondyly, extreme" EXACT []
xref: UMLS:C1850293
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0004566
name: Pear-shaped vertebrae
def: "Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours." [HPO:probinson, pmid:16167086]
synonym: "Pear-shaped vertebral bodies" EXACT []
xref: UMLS:C1866731
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004568
name: Beaking of vertebral bodies
alt_id: HP:0003313
alt_id: HP:0003315
alt_id: HP:0004569
alt_id: HP:0004577
alt_id: HP:0004584
alt_id: HP:0005122
def: "Anterior tongue-like protrusions of the vertebral bodies." [HPO:probinson]
subset: hposlim_core
synonym: "anterior beaking" EXACT []
synonym: "Anterior beaking of vertebrae" EXACT []
synonym: "Anterior beaking of vertebral bodies" EXACT []
synonym: "anterior wedging" EXACT []
synonym: "Beaked vertebral bodies" EXACT []
synonym: "Vertebral tongue-like protrusion" EXACT []
synonym: "Wedged vertebrae" EXACT []
xref: SNOMEDCT_US:19888007
xref: UMLS:C0264112
xref: UMLS:C1856599
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004570
name: Increased vertebral height
alt_id: HP:0005693
def: "Increased top to bottom height of vertebral bodies." [HPO:probinson]
synonym: "Tall vertebral bodies" EXACT []
xref: UMLS:C1864853
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004571
name: Widening of cervical spinal canal
xref: UMLS:C3807591
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0004573
name: Anterior wedging of T11
def: "An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson]
synonym: "Anterior wedging of the 11th thoracic vertebra" EXACT []
synonym: "Wedge-shaped 11th thoracic vertebra" EXACT []
xref: UMLS:C4021652
is_a: HP:0008422 ! Vertebral wedging

[Term]
id: HP:0004575
name: Fusion of midcervical facet joints
xref: UMLS:C1847394
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0004576
name: Sclerotic vertebral endplates
def: "Sclerosis (increased density) affecting vertebral end plates." [HPO:curators]
synonym: "Large joint contractures" EXACT []
xref: UMLS:C1859698
is_a: HP:0005106 ! Abnormality of the vertebral endplates

[Term]
id: HP:0004580
name: Anterior scalloping of vertebral bodies
def: "An excessive concavity of the anterior surface of one or more vertebral bodies." [HPO:curators]
comment: One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin.
synonym: "Anterior scalloping vertebral bodies" RELATED []
xref: UMLS:C2673652
is_a: HP:0004586 ! Biconcave vertebral bodies

[Term]
id: HP:0004581
name: Increased anterior vertebral height
xref: UMLS:C1866732
is_a: HP:0004570 ! Increased vertebral height

[Term]
id: HP:0004582
name: Irregularity of vertebral bodies
xref: UMLS:C4025311
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004586
name: Biconcave vertebral bodies
alt_id: HP:0002952
alt_id: HP:0004561
alt_id: HP:0004620
def: "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward." [HPO:probinson]
comment: This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies.
subset: hposlim_core
synonym: "Biconcave 'codfish' vertebrae" EXACT []
synonym: "Biconcave vertebrae" EXACT []
synonym: "Codfish vertebrae" EXACT []
synonym: "Fish vertebrae" EXACT []
synonym: "Scalloping of vertebral bodies" EXACT []
xref: UMLS:C1856087
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004589
name: Dysplasia of second lumbar vertebra
xref: UMLS:C4025310
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0004590
name: Hypoplastic sacrum
synonym: "Small sacrum" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1970816
is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum

[Term]
id: HP:0004591
name: Disc-like vertebral bodies
xref: UMLS:C1835444
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004592
name: Thoracic platyspondyly
def: "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine." [HPO:probinson]
xref: UMLS:C1862428
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0004594
name: Hump-shaped mound of bone in central and posterior portions of vertebral endplate
xref: UMLS:C1839252
is_a: HP:0003301 ! Irregular vertebral endplates

[Term]
id: HP:0004598
name: Supernumerary vertebral ossification centers
def: "Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine." [HPO:probinson]
xref: UMLS:C4025309
is_a: HP:0000926 ! Platyspondyly
is_a: HP:0100569 ! Abnormally ossified vertebrae

[Term]
id: HP:0004599
name: Absent or minimally ossified vertebral bodies
xref: UMLS:C1832983
is_a: HP:0100569 ! Abnormally ossified vertebrae

[Term]
id: HP:0004601
name: Spina bifida occulta at L5
def: "The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin." [HPO:probinson]
xref: UMLS:C4025308
is_a: HP:0003298 ! Spina bifida occulta

[Term]
id: HP:0004602
name: Cervical C2/C3 vertebral fusion
alt_id: HP:0004636
def: "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [HPO:probinson]
synonym: "Fusion of cervical vertebrae c2-3" EXACT []
synonym: "Klippel-Feil syndrome" EXACT []
xref: MSH:D007714
xref: SNOMEDCT_US:388981000
xref: SNOMEDCT_US:5601008
xref: UMLS:C0022738
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0004603
name: Hyperconvex vertebral body endplates
xref: UMLS:C4025307
is_a: HP:0005106 ! Abnormality of the vertebral endplates

[Term]
id: HP:0004605
name: Absent vertebral body mineralization
def: "A lack of bone mineralization of the vertebral bodies." [HPO:probinson]
xref: UMLS:C1860191
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies

[Term]
id: HP:0004606
name: Unossified vertebral bodies
alt_id: HP:0008427
def: "A lack of ossification of the vertebral bodies." [HPO:probinson]
xref: UMLS:C1860202
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies

[Term]
id: HP:0004607
name: Anterior beaking of lower thoracic vertebrae
def: "Anterior tongue-like protrusions of the lower thoracic vertebral bodies." [HPO:probinson]
xref: UMLS:C4025306
is_a: HP:0004568 ! Beaking of vertebral bodies

[Term]
id: HP:0004608
name: Anteriorly placed odontoid process
def: "Anterior mislocalization of the dens of the axis." [HPO:probinson]
xref: UMLS:C1844512
is_a: HP:0003310 ! Abnormality of the odontoid process

[Term]
id: HP:0004609
name: Patchy distortion of vertebrae
xref: UMLS:C4025305
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004610
name: Lumbar spinal canal stenosis
def: "An abnormal narrowing of the lumbar spinal canal." [HPO:probinson, pmid:3160275]
comment: Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease).
synonym: "Lumbar spinal stenosis" EXACT []
synonym: "Narrow lumbar spinal canal" EXACT []
xref: SNOMEDCT_US:18347007
xref: UMLS:C0158288
is_a: HP:0003416 ! Spinal canal stenosis

[Term]
id: HP:0004611
name: Anterior concavity of thoracic vertebrae
synonym: "Anteriorly concave vertebrae" EXACT []
xref: UMLS:C1839822
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004614
name: Spina bifida occulta at S1
def: "The closed form of spina bifida with incomplete closure of S1 with intact overlying skin." [HPO:probinson]
xref: UMLS:C4025304
is_a: HP:0003298 ! Spina bifida occulta

[Term]
id: HP:0004616
name: Cleft vertebral arch
def: "A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra." [HPO:probinson]
synonym: "Cleft vertebral arches" RELATED []
xref: UMLS:C1859458
is_a: HP:0008438 ! Vertebral arch anomaly

[Term]
id: HP:0004617
name: Butterfly vertebral arch
def: "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends." [HPO:probinson]
xref: UMLS:C1861627
is_a: HP:0008438 ! Vertebral arch anomaly

[Term]
id: HP:0004618
name: Sandwich appearance of vertebral bodies
xref: UMLS:C1850134
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004619
name: Lumbar kyphoscoliosis
xref: UMLS:C1834953
is_a: HP:0002751 ! Kyphoscoliosis
is_a: HP:0004626 ! Lumbar scoliosis
is_a: HP:0008454 ! Lumbar kyphosis

[Term]
id: HP:0004621
name: Enlarged vertebral pedicles
def: "Increased size of the vertebral pedicle." [HPO:probinson]
comment: The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch.
synonym: "Hyperplastic vertebral pedicles" EXACT []
xref: UMLS:C4025303
is_a: HP:0030277 ! Abnormal vertebral pedicle morphology

[Term]
id: HP:0004622
name: Progressive intervertebral space narrowing
def: "A progressive form of decreased height of the intervertebral disk." [HPO:probinson]
xref: UMLS:C1837670
is_a: HP:0002945 ! Intervertebral space narrowing

[Term]
id: HP:0004625
name: Biconvex vertebral bodies
def: "Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates." [HPO:probinson]
comment: Note that biconvex vertebral bodies can be a normal finding in newborns.
xref: UMLS:C1866675
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004626
name: Lumbar scoliosis
xref: UMLS:C2748518
is_a: HP:0002944 ! Thoracolumbar scoliosis

[Term]
id: HP:0004629
name: Small cervical vertebral bodies
alt_id: HP:0008429
def: "Reduced size of cervical vertebrae." [HPO:probinson]
synonym: "Small cervical vertebrae" EXACT []
xref: UMLS:C1851130
is_a: HP:0008479 ! Hypoplastic vertebral bodies

[Term]
id: HP:0004630
name: Anterior beaking of thoracic vertebrae
def: "Anterior tongue-like protrusions of thoracic vertebral bodies." [HPO:probinson]
xref: UMLS:C4025302
is_a: HP:0004568 ! Beaking of vertebral bodies

[Term]
id: HP:0004631
name: Decreased cervical spine flexion due to contractures of posterior cervical muscles
synonym: "Contracture of post-cervical muscles" EXACT []
synonym: "Inability to touch chin to chest" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1839653
xref: UMLS:C4280512
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0004632
name: Cervical segmentation defect
alt_id: HP:0004612
def: "An abnormality related to a defect of vertebral separation of cervical vertebrae during development." [HPO:probinson]
synonym: "Cervical spine segmentation defect" EXACT []
xref: UMLS:C1862415
is_a: HP:0003422 ! Vertebral segmentation defect

[Term]
id: HP:0004633
name: Lower thoracic kyphosis
def: "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump." [HPO:probinson]
synonym: "Round mid-back" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1864361
is_a: HP:0002942 ! Thoracic kyphosis

[Term]
id: HP:0004634
name: Cuboid-shaped vertebral bodies
synonym: "Cuboid vertebral bodies" EXACT []
xref: UMLS:C2673653
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0004635
name: Cervical C5/C6 vertebrae fusion
def: "Fusion of the C5 and C6 cervical vertebrae." [HPO:probinson]
xref: UMLS:C4025301
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0004637
name: Decreased cervical spine mobility
synonym: "Limited neck movement" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1859692
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0004639
name: Elevated amniotic fluid alpha-fetoprotein
alt_id: HP:0005985
def: "An elevation of alpha-feto protein measured in the amniotic fluid." [HPO:curators]
comment: This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele.
synonym: "Elevated amniotic fluid alpha fetal protein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432]
synonym: "Elevated amniotic fluid alpha-1-fetoprotein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432]
synonym: "Elevated amniotic fluid alpha-fetoglobulin" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432]
xref: UMLS:C1839860
is_a: HP:0006254 ! Elevated alpha-fetoprotein

[Term]
id: HP:0004646
name: Hypoplasia of the nasal bone
def: "Underdevelopment of the nasal bone." [HPO:probinson]
synonym: "Decreased size of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic nasal bone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Nasal bone hypoplasia" EXACT []
synonym: "Small nasal bone" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021651
is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose
is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone

[Term]
id: HP:0004660
name: Hypoplasia of facial musculature
def: "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson]
synonym: "Atrophy of facial musculature" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of facial musculature" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic facial musculature" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small facial muscles" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1834042
xref: UMLS:C4280509
xref: UMLS:C4280510
xref: UMLS:C4280511
is_a: HP:0000301 ! Abnormality of facial musculature

[Term]
id: HP:0004661
name: Frontalis muscle weakness
def: "Reduced strength of the frontalis muscle (which is located on the forehead)." [HPO:curators]
synonym: "Weak frontalis muscle" EXACT []
synonym: "Weakness of forehead muscle" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1859438
is_a: HP:0010628 ! Facial palsy
is_a: HP:3000004 ! Abnormality of frontalis muscle belly
created_by: HPO:skoehler

[Term]
id: HP:0004664
name: Facial midline hemangioma
def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face." [HPO:curators]
xref: UMLS:C1862496
is_a: HP:0000329 ! Facial hemangioma

[Term]
id: HP:0004673
name: Decreased facial expression
def: "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions." [HPO:probinson]
synonym: "Decreased facial expression" EXACT layperson []
xref: UMLS:C1862474
is_a: HP:0005346 ! Abnormal facial expression

[Term]
id: HP:0004676
name: Prominent supraorbital arches in adult
xref: UMLS:C1834993
is_a: HP:0000336 ! Prominent supraorbital ridges

[Term]
id: HP:0004679
name: Large tarsal bones
synonym: "Large ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1859116
is_a: HP:0001850 ! Abnormality of the tarsal bones

[Term]
id: HP:0004681
name: Deep longitudinal plantar crease
def: "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot." [pmid:19125433]
subset: hposlim_core
synonym: "Foot crease" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Longitudinal groove on soles" EXACT []
xref: UMLS:C1859223
xref: UMLS:C4280508
is_a: HP:0001869 ! Deep plantar creases

[Term]
id: HP:0004684
name: Talipes valgus
def: "Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot." [HPO:probinson]
comment: The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone).
xref: SNOMEDCT_US:79807003
xref: UMLS:C0152236
is_a: HP:0003028 ! Abnormality of the ankles

[Term]
id: HP:0004686
name: Short third metatarsal
alt_id: HP:0010673
def: "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone." [HPO:probinson]
synonym: "Hypoplasia of the 3rd metatarsal bone" EXACT []
synonym: "Short 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021650
is_a: HP:0010672 ! Abnormality of the third metatarsal bone
is_a: HP:0010743 ! Short metatarsal

[Term]
id: HP:0004688
name: Irregular tarsal bones
synonym: "Abnormal shape of ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1855240
is_a: HP:0001850 ! Abnormality of the tarsal bones

[Term]
id: HP:0004689
name: Short fourth metatarsal
def: "Short fourth metatarsal bone." [HPO:probinson]
synonym: "Bilateral fourth metatarsal shortening" EXACT []
synonym: "Short 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short fourth metatarsals" RELATED [HPO:skoehler]
synonym: "Short fourth metatarsus" EXACT []
xref: UMLS:C1848514
is_a: HP:0010743 ! Short metatarsal
is_a: HP:0040035 ! Abnormality of the fourth metatarsal bone

[Term]
id: HP:0004690
name: Thickened Achilles tendon
def: "An abnormal thickening of the Achilles tendon." [HPO:probinson]
synonym: "Thickened Achilles tendon" EXACT layperson []
xref: UMLS:C0919997
is_a: HP:0005109 ! Abnormality of the Achilles tendon

[Term]
id: HP:0004691
name: 2-3 toe syndactyly
alt_id: HP:0001846
alt_id: HP:0001856
alt_id: HP:0003773
alt_id: HP:0004683
alt_id: HP:0004685
alt_id: HP:0004697
alt_id: HP:0004703
alt_id: HP:0008086
alt_id: HP:0008123
def: "Syndactyly with fusion of toes two and three." [HPO:sdoelken]
synonym: "2-3 syndactyly of feet" EXACT []
synonym: "2-3 toe soft tissue syndactyly" EXACT []
synonym: "2-3 toes syndactyly" EXACT []
synonym: "Complete cutaneous syndactyly of second and third toes" EXACT []
synonym: "Cutaneous 2,3 toe syndactyly" EXACT []
synonym: "Cutaneous syndactyly of second and third toes" EXACT []
synonym: "partial or complete syndactyly 2nd-3rd toes" EXACT []
synonym: "Syndactyly of second and third toes" EXACT []
synonym: "Toe syndactyly, 2-3" EXACT [HPO:skoehler]
synonym: "Webbed 2nd and 3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:205145001
xref: UMLS:C0432040
is_a: HP:0001770 ! Toe syndactyly

[Term]
id: HP:0004692
name: 4-5 toe syndactyly
alt_id: HP:0005826
alt_id: HP:0005861
def: "Syndactyly with fusion of toes four and five." [HPO:sdoelken]
synonym: "Symmetric syndactyly, toes 4 and 5" EXACT []
synonym: "Syndactyly of toes 4 and 5" EXACT []
synonym: "Webbed 4th-5th toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1837836
is_a: HP:0001770 ! Toe syndactyly

[Term]
id: HP:0004695
name: Calcaneal epiphyseal stippling
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus." [HPO:probinson]
xref: UMLS:C1861708
is_a: HP:0010655 ! Epiphyseal stippling

[Term]
id: HP:0004696
name: Talipes cavus equinovarus
xref: UMLS:C1832342
is_a: HP:0001762 ! Talipes equinovarus

[Term]
id: HP:0004699
name: Osteoporotic metatarsal
def: "Decrease in mass and density of the metatarsal bones." [HPO:probinson]
xref: UMLS:C1836873
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0004704
name: Short fifth metatarsal
alt_id: HP:0004702
alt_id: HP:0010671
def: "Short (hypoplastic) fifth metatarsal bone." [HPO:probinson]
synonym: "Hypoplasia of the fifth metatarsal bone" EXACT []
synonym: "Short 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021649
is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone
is_a: HP:0010743 ! Short metatarsal

[Term]
id: HP:0004712
name: Renal malrotation
alt_id: HP:0004730
def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney." [HPO:probinson]
comment: The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation.
synonym: "Abnormal rotation of the kidneys" EXACT layperson []
synonym: "Malrotation of the kidney" EXACT []
xref: SNOMEDCT_US:49008000
xref: UMLS:C0238210
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0004713
name: Reversible renal failure
def: "Acute renal failure with resolution of manifestations." [HPO:probinson]
synonym: "Reversible kidney failure" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Reversible renal failure" EXACT layperson []
xref: UMLS:C1843276
is_a: HP:0000083 ! Renal insufficiency

[Term]
id: HP:0004717
name: Axial malrotation of the kidney
def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney." [HPO:probinson]
xref: UMLS:C4025300
is_a: HP:0004712 ! Renal malrotation

[Term]
id: HP:0004719
name: Hyperechogenic kidneys
def: "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal." [HPO:probinson]
xref: UMLS:C3275899
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0004722
name: Thickening of the glomerular basement membrane
def: "Increase in thickness of the basal lamina of the glomerulus of the kidney." [HPO:probinson]
comment: This finding is demonstrated on renal biopsy.
xref: SNOMEDCT_US:264932002
xref: UMLS:C0445347
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology

[Term]
id: HP:0004724
name: Calcium nephrolithiasis
def: "The presence of calcium-containing calculi (stones) in the kidneys." [HPO:probinson]
comment: The overwhelming majority of renal calculi contain calcium.
synonym: "Ca kidney stone" EXACT HP:0045077 []
synonym: "Ca nephrolithiasis" EXACT HP:0045077 []
synonym: "Ca2+ kidney stone" EXACT HP:0045077 []
synonym: "Ca2+ nephrolithiasis" EXACT HP:0045077 []
synonym: "Calcium kidney stone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1855801
is_a: HP:0000787 ! Nephrolithiasis

[Term]
id: HP:0004727
name: Impaired renal concentrating ability
alt_id: HP:0005568
def: "A defect in the ability to concentrate the urine." [HPO:probinson]
comment: An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation.
synonym: "Urine concentrating defect" EXACT []
synonym: "Urine concentration defect" EXACT []
xref: UMLS:C1859819
is_a: HP:0011038 ! Abnormality of renal resorption

[Term]
id: HP:0004729
name: Acute tubulointerstitial nephritis
def: "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HPO:probinson]
xref: MSH:C564356
xref: UMLS:C1843274
is_a: HP:0001970 ! Tubulointerstitial nephritis

[Term]
id: HP:0004732
name: Impaired renal uric acid clearance
def: "A reduction in the ability of the kidneys to remove uric acid from the serum." [HPO:probinson]
xref: UMLS:C1969371
is_a: HP:0011036 ! Abnormality of renal excretion

[Term]
id: HP:0004734
name: Renal cortical microcysts
alt_id: HP:0000814
def: "Cysts of microscopic size confined to the cortex of the kidney." [Eurenomics:ewuehl]
synonym: "Cortical microcysts" EXACT []
synonym: "Multiple renal cortical microcysts" EXACT []
synonym: "Multiple small renal cortical cysts" EXACT []
xref: UMLS:C1865877
is_a: HP:0000803 ! Renal cortical cysts

[Term]
id: HP:0004736
name: Crossed fused renal ectopia
def: "A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys." [HPO:probinson]
synonym: "Ectopic kidney with fusion" EXACT []
xref: UMLS:C1835796
is_a: HP:0000086 ! Ectopic kidney

[Term]
id: HP:0004737
name: Global glomerulosclerosis
def: "Complete and diffuse scarring of glomerulus." [Eurenomics:ewuehl]
comment: All portions of all glomeruli are affected.
xref: UMLS:C1865276
is_a: HP:0000096 ! Glomerulosclerosis

[Term]
id: HP:0004742
name: Abnormal renal collecting system morphology
alt_id: HP:0004731
def: "An abnormality of the renal collecting system." [HPO:probinson]
synonym: "Abnormal collecting system" EXACT []
synonym: "Abnormality of the renal collecting system" EXACT []
synonym: "Renal collecting system anomalies" EXACT []
xref: UMLS:C1851303
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0004743
name: Chronic tubulointerstitial nephritis
def: "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HPO:probinson]
xref: SNOMEDCT_US:60926001
xref: UMLS:C0238304
is_a: HP:0001970 ! Tubulointerstitial nephritis

[Term]
id: HP:0004746
name: Glomerular subendothelial electron-dense deposits
def: "Electron dense deposits at the glomerular basement membrane," [Eurenomics:ewuehl, pmid:20301598]
comment: Subendothelial electron-dense deposits are a characteristc feature of dense-deposit disease.
synonym: "Dense deposit disease" RELATED []
synonym: "Membranoproliferative glomerulonephritis type II" RELATED []
xref: MSH:D015432
xref: SNOMEDCT_US:59479006
xref: UMLS:C0268743
is_a: HP:0030949 ! Glomerular deposits

[Term]
id: HP:0004749
name: Atrial flutter
def: "A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit." [HPO:probinson]
comment: Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent.
xref: MSH:D001282
xref: SNOMEDCT_US:5370000
xref: UMLS:C0004239
is_a: HP:0001692 ! Atrial arrhythmia

[Term]
id: HP:0004751
name: Paroxysmal ventricular tachycardia
alt_id: HP:0005141
def: "Episodes of ventricular tachycardia that have a sudden onset and ending." []
synonym: "Episodes of ventricular tachycardia" EXACT []
xref: SNOMEDCT_US:66657009
xref: UMLS:C0030591
is_a: HP:0004756 ! Ventricular tachycardia

[Term]
id: HP:0004752
name: Congenital atrioventricular dissociation
def: "A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset." [HPO:probinson]
xref: UMLS:C4025299
is_a: HP:0011709 ! Atrioventricular dissociation

[Term]
id: HP:0004754
name: Permanent atrial fibrillation
def: "AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent." [HPO:probinson, pmid:12860883]
comment: The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic.
synonym: "Chronic atrial fibrillation" RELATED []
xref: SNOMEDCT_US:426749004
xref: SNOMEDCT_US:440028005
xref: UMLS:C0694539
xref: UMLS:C2586056
is_a: HP:0005110 ! Atrial fibrillation

[Term]
id: HP:0004755
name: Supraventricular tachycardia
def: "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles." [DDD:dbrown, HPO:probinson]
comment: A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular.
synonym: "Supraventricular tachyarrhythmia" EXACT []
synonym: "SVT" EXACT HP:0045077 []
xref: MSH:D013617
xref: SNOMEDCT_US:6456007
xref: UMLS:C0039240
xref: UMLS:C1698480
is_a: HP:0001649 ! Tachycardia
is_a: HP:0005115 ! Supraventricular arrhythmia

[Term]
id: HP:0004756
name: Ventricular tachycardia
def: "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)." []
comment: Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease.
xref: Fyler:7160
xref: MSH:D017180
xref: SNOMEDCT_US:25569003
xref: UMLS:C0042514
is_a: HP:0001649 ! Tachycardia

[Term]
id: HP:0004757
name: Paroxysmal atrial fibrillation
def: "Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously." [HPO:probinson]
synonym: "Atrial fibrillation, paroxysmal" EXACT [HPO:skoehler]
xref: MSH:D001281
xref: SNOMEDCT_US:282825002
xref: UMLS:C0235480
is_a: HP:0005110 ! Atrial fibrillation

[Term]
id: HP:0004758
name: Effort-induced polymorphic ventricular tachycardia
def: "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration." [PMID:15913575]
synonym: "Catecholaminergic polymorphic ventricular tachycardia" EXACT []
synonym: "Exercise-induced polymorphic ventricular tachycardia" EXACT []
xref: UMLS:C4025298
is_a: HP:0004756 ! Ventricular tachycardia

[Term]
id: HP:0004759
name: obsolete Nodular calcific aortic valve disease
is_obsolete: true

[Term]
id: HP:0004760
name: obsolete Congenital septal defect
is_obsolete: true
consider: HP:0001671

[Term]
id: HP:0004761
name: Post-angioplasty coronary artery restenosis
xref: UMLS:C2676505
is_a: HP:0001677 ! Coronary artery atherosclerosis

[Term]
id: HP:0004762
name: Hypoplasia of right ventricle
alt_id: HP:0004951
def: "Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells." [MP:0010422]
synonym: "Heart right ventricle hypoplasia" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Small right heart chamber" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Underdeveloped right heart chamber" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: Fyler:1821
xref: UMLS:C4082954
is_a: HP:0001707 ! Abnormal right ventricle morphology

[Term]
id: HP:0004763
name: Paroxysmal supraventricular tachycardia
alt_id: HP:0004765
def: "An episodic form of supraventricular tachycardia with abrupt onset and termination." [pmid:18025404]
comment: PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT).
synonym: "Episodic rapid heart beat" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Episodic supraventricular tachycardia" EXACT []
xref: SNOMEDCT_US:67198005
xref: UMLS:C0030590
xref: UMLS:C4280507
is_a: HP:0004755 ! Supraventricular tachycardia

[Term]
id: HP:0004764
name: Myxomatous mitral valve degeneration
def: "Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view." [HPO:probinson, pmid:21143934]
xref: SNOMEDCT_US:253395003
xref: SNOMEDCT_US:42069006
xref: UMLS:C0264885
is_a: HP:0001634 ! Mitral valve prolapse

[Term]
id: HP:0004768
name: Sparse anterior scalp hair
def: "Decreased number of head hairs per unit area on the anterior region of the scalp." [HPO:probinson]
synonym: "Sparse scalp hair at front of head" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin scalp hair at front of head" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1866246
is_a: HP:0000599 ! Abnormality of the frontal hairline
is_a: HP:0002209 ! Sparse scalp hair

[Term]
id: HP:0004771
name: Premature graying of body hair
synonym: "Premature graying of body hair" EXACT layperson []
xref: UMLS:C1849125
is_a: HP:0002216 ! Premature graying of hair

[Term]
id: HP:0004779
name: Brittle scalp hair
alt_id: HP:0004776
def: "Fragile, easily breakable scalp hair." [DDD:cmoss]
synonym: "Brittle scalp hair" EXACT layperson []
xref: UMLS:C4025296
is_a: HP:0002299 ! Brittle hair

[Term]
id: HP:0004780
name: Elbow hypertrichosis
def: "Excessive, increased hair growth located in the elbow region." [HPO:probinson]
synonym: "Hairy elbow" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Hairy elbow syndrome" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Hypertrichosis cubiti" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025295
is_a: HP:0000998 ! Hypertrichosis

[Term]
id: HP:0004782
name: Hypotrichosis of the scalp
alt_id: HP:0004526
def: "Reduced or lacking hair growth of the scalp." [HPO:curators]
synonym: "Hypotrichosis on scalp" EXACT []
synonym: "Reduced/lack of hair on scalp" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Scalp hypotrichosis" EXACT []
xref: UMLS:C1873509
is_a: HP:0001006 ! Hypotrichosis

[Term]
id: HP:0004783
name: Duodenal polyposis
def: "Presence of multiple polyps in the duodenum." [HPO:probinson]
synonym: "Multiple duodenal polyps" EXACT []
xref: SNOMEDCT_US:301797007
xref: UMLS:C0578477
is_a: HP:0030256 ! Small intestinal polyposis

[Term]
id: HP:0004784
name: Juvenile gastrointestinal polyposis
def: "The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps." [HPO:probinson, pmid:25022750]
synonym: "Juvenile GI polyposis" EXACT HP:0045077 []
xref: UMLS:C4025294
is_a: HP:0004390 ! Hamartomatous polyposis

[Term]
id: HP:0004785
name: Malrotation of colon
def: "An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis." [HPO:probinson]
xref: SNOMEDCT_US:6477005
xref: UMLS:C0266196
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0002566 ! Intestinal malrotation

[Term]
id: HP:0004786
name: Jejunal diverticula
xref: UMLS:C4025293
is_a: HP:0002256 ! Small bowel diverticula

[Term]
id: HP:0004787
name: Fulminant hepatitis
def: "Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice." [HPO:probinson, pmid:18825677]
comment: Note that different definitions of fulminant hepatitis are used in the medical literature.
xref: SNOMEDCT_US:427044009
xref: UMLS:C0302809
is_a: HP:0004448 ! Fulminant hepatic failure
is_a: HP:0012115 ! Hepatitis

[Term]
id: HP:0004788
name: Intestinal lymphedema
def: "Fluid retention and edema in the intestine caused by a compromised lymphatic system." [HPO:probinson]
xref: UMLS:C4025292
is_a: HP:0001004 ! Lymphedema
is_a: HP:0005225 ! Intestinal edema

[Term]
id: HP:0004789
name: Lactose intolerance
def: "An inability to digest lactose." [HPO:probinson]
synonym: "Lactose intolerance" EXACT layperson []
synonym: "Milk intolerance" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D007787
xref: SNOMEDCT_US:267425008
xref: SNOMEDCT_US:700094005
xref: UMLS:C0022951
is_a: HP:0002024 ! Malabsorption

[Term]
id: HP:0004790
name: Hypoplasia of the small intestine
def: "Underdevelopment of the small intestine." [HPO:probinson]
synonym: "Underdeveloped small intestine" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025291
is_a: HP:0002244 ! Abnormality of the small intestine
is_a: HP:0005245 ! Intestinal hypoplasia

[Term]
id: HP:0004791
name: Esophageal ulceration
def: "Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus." [HPO:probinson]
synonym: "Esophagus ulcer" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Oesophagus ulceration" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:30811009
xref: UMLS:C0151970
is_a: HP:0002031 ! Abnormal esophagus morphology

[Term]
id: HP:0004792
name: Rectoperineal fistula
def: "The presence of a fistula between the perineum and the rectum." [HPO:probinson]
xref: UMLS:C0240880
is_a: HP:0004871 ! Perineal fistula
is_a: HP:0100590 ! Rectal fistula

[Term]
id: HP:0004794
name: Malrotation of small bowel
def: "A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel." [HPO:probinson]
comment: Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus.
synonym: "Malrotation of the small intestine" EXACT []
xref: UMLS:C1860244
is_a: HP:0002244 ! Abnormality of the small intestine
is_a: HP:0002566 ! Intestinal malrotation

[Term]
id: HP:0004795
name: Hamartomatous stomach polyps
def: "Polyp-like protrusions which are histologically hamartomas located in the stomach." [HPO:probinson]
xref: UMLS:C1862304
is_a: HP:0004390 ! Hamartomatous polyposis
is_a: HP:0006753 ! Neoplasm of the stomach

[Term]
id: HP:0004796
name: Gastrointestinal obstruction
synonym: "Gastrointestinal obstruction" EXACT layperson []
synonym: "GI obstruction" EXACT HP:0045077 []
synonym: "Obstruction in digestive tract" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:126765001
xref: UMLS:C0236124
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0004797
name: Multiple small bowel atresias
def: "The presence of multiple areas of atresia affecting the small intestine." [HPO:probinson]
xref: UMLS:C1857476
is_a: HP:0011100 ! Intestinal atresia

[Term]
id: HP:0004798
name: Recurrent infection of the gastrointestinal tract
def: "Recurrent infection of the gastrointestinal tract." [HPO:probinson]
synonym: "Gastrointestinal infections" RELATED layperson []
synonym: "Gastrointestinal infections, recurrent" RELATED layperson [HPO:skoehler]
synonym: "Recurrent gastrointestinal infections" EXACT layperson []
synonym: "Recurrent infection of the gastrointestinal tract" EXACT layperson []
synonym: "Recurrent infection of the GI tract" EXACT HP:0045077 []
xref: SNOMEDCT_US:715852004
xref: UMLS:C1854495
xref: UMLS:C4082764
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0004799
name: Jejunoileal diverticula
xref: UMLS:C4025290
is_a: HP:0002256 ! Small bowel diverticula

[Term]
id: HP:0004800
name: Duodenal diverticula
xref: SNOMEDCT_US:197083003
xref: UMLS:C0341266
is_a: HP:0002256 ! Small bowel diverticula

[Term]
id: HP:0004802
name: Episodic hemolytic anemia
def: "A form of hemolytic anemia that occurs in repeated episodes." [HPO:probinson]
synonym: "Episodic hemolysis" EXACT []
xref: UMLS:C1859495
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004804
name: Congenital hemolytic anemia
alt_id: HP:0004811
alt_id: HP:0004824
def: "A form of hemolytic anemia with congenital onset." [HPO:probinson]
synonym: "Congenital haemolytic anemia" EXACT []
synonym: "Neonatal hemolytic anemia" RELATED []
xref: MSH:D000745
xref: SNOMEDCT_US:38911009
xref: SNOMEDCT_US:42601008
xref: UMLS:C0002881
xref: UMLS:C4020827
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004808
name: Acute myeloid leukemia
alt_id: HP:0001914
alt_id: HP:0004843
alt_id: HP:0005516
alt_id: HP:0006724
alt_id: HP:0006728
def: "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:probinson]
synonym: "Acute myeloblastic leukemia" EXACT []
synonym: "Acute myelocytic leukemia" EXACT []
synonym: "Acute myelogenous leukemia" EXACT []
synonym: "AML" EXACT HP:0045077 []
xref: MSH:D015470
xref: SNOMEDCT_US:17788007
xref: SNOMEDCT_US:413443009
xref: SNOMEDCT_US:91861009
xref: UMLS:C0023467
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0004809
name: Neonatal alloimmune thrombocytopenia
def: "Low platelet count associated with maternal platelet-specific alloantibodies." [HPO:probinson]
comment: Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies.
xref: MSH:D054098
xref: SNOMEDCT_US:240305000
xref: UMLS:C3853779
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0004810
name: Congenital hypoplastic anemia
alt_id: HP:0005545
def: "A type of hypoplastic anemia with congenital onset." [HPO:probinson]
comment: In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature.
synonym: "Congenital dyserythropoietic anemia" EXACT []
xref: MSH:D000742
xref: MSH:D029503
xref: SNOMEDCT_US:234371002
xref: SNOMEDCT_US:52951008
xref: SNOMEDCT_US:88854002
xref: UMLS:C0002876
xref: UMLS:C1260899
is_a: HP:0001908 ! Hypoplastic anemia

[Term]
id: HP:0004812
name: B Acute Lymphoblastic Leukemia
def: "A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood." [NCIT:C8644]
synonym: "Pre-B-cell acute lymphoblastic leukemia" EXACT []
is_a: HP:0006721 ! Acute lymphoblastic leukemia

[Term]
id: HP:0004813
name: Post-transfusion thrombocytopenia
def: "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages." [DDD:kfreeson]
comment: Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy.
synonym: "Post-transfusion purpura" RELATED []
xref: MSH:C562868
xref: SNOMEDCT_US:73162004
xref: UMLS:C0398648
xref: UMLS:C1868252
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0004814
name: Fava bean-induced hemolytic anemia
def: "A kind of hemolytic anemia that is induced by the ingestion of fava beans." [HPO:probinson]
comment: Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compunds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations.
synonym: "Hemolytic anemia following ingestion of fava beans" EXACT []
xref: UMLS:C4021648
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004817
name: Drug-sensitive hemolytic anemia
def: "A form of hemolytic anemia that is triggered by ingestion of certain drugs." [HPO:probinson]
xref: UMLS:C4025289
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004818
name: Paroxysmal nocturnal hemoglobinuria
synonym: "Paroxysmal nocturnal haemoglobinuria" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D006457
xref: SNOMEDCT_US:1963002
xref: UMLS:C0024790
is_a: HP:0003641 ! Hemoglobinuria

[Term]
id: HP:0004819
name: Normocytic hypoplastic anemia
def: "A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)." [HPO:probinson]
xref: UMLS:C1835875
is_a: HP:0001908 ! Hypoplastic anemia

[Term]
id: HP:0004820
name: Acute myelomonocytic leukemia
def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors." [NCIT:C7463]
xref: MSH:D015479
xref: SNOMEDCT_US:110005000
xref: SNOMEDCT_US:277601005
xref: SNOMEDCT_US:30962008
xref: UMLS:C0023479
is_a: HP:0002488 ! Acute leukemia
is_a: HP:0012324 ! Myeloid leukemia

[Term]
id: HP:0004821
name: Hypersegmentation of neutrophil nuclei
def: "An excessive division of the lobes of the nucleus of a neutrophil." [HPO:probinson]
comment: Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies.
synonym: "Hypermature neutrophils" EXACT []
synonym: "Hypersegmentation of neutrophil nuclei in peripheral blood" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-8169-9049]
xref: UMLS:C4025288
is_a: HP:0011992 ! Abnormality of neutrophil morphology

[Term]
id: HP:0004822
name: Atypical elliptocytosis
xref: MSH:C565598
xref: UMLS:C1857010
is_a: HP:0004445 ! Elliptocytosis

[Term]
id: HP:0004823
name: Anisopoikilocytosis
def: "A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes." [HPO:probinson]
xref: UMLS:C2675920
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0004825
name: Increased hemoglobin oxygen affinity
def: "An abnormal increase in the binding affinity of hemoglobin for oxygen." [HPO:probinson]
synonym: "Increased haemoglobin oxygen affinity" EXACT []
synonym: "Increased Hb O2 affinity" EXACT HP:0045077 []
synonym: "Increased Hb oxygen affinity" EXACT HP:0045077 []
synonym: "Increased hemoglobin O2 affinity" EXACT HP:0045077 []
xref: UMLS:C4021647
is_a: HP:0020054 ! Abnormal erythrocyte physiology

[Term]
id: HP:0004826
name: Folate-unresponsive megaloblastic anemia
def: "A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia." [HPO:probinson]
xref: UMLS:C4025287
is_a: HP:0001889 ! Megaloblastic anemia

[Term]
id: HP:0004828
name: Refractory anemia with ringed sideroblasts
def: "A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts." [HPO:probinson]
synonym: "Myelodysplasia with sideroblastosis" EXACT []
xref: ICD-O:M9982/3 "Refractory anemia with ringed sideroblasts"
xref: SNOMEDCT_US:109998009
xref: SNOMEDCT_US:128846006
xref: UMLS:C1264195
is_a: HP:0012150 ! Single lineage myelodysplasia

[Term]
id: HP:0004831
name: Recurrent thromboembolism
def: "Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream." [HPO:probinson]
synonym: "Recurrent thromboembolic disease" RELATED []
xref: UMLS:C0749398
xref: UMLS:C4025286
is_a: HP:0001907 ! Thromboembolism

[Term]
id: HP:0004835
name: Microspherocytosis
def: "The presence of erythrocytes that are sphere-shaped and reduced in size." [HPO:probinson]
xref: UMLS:C4025285
is_a: HP:0004444 ! Spherocytosis

[Term]
id: HP:0004836
name: Acute promyelocytic leukemia
def: "A type of acute myeloid leukemia in which abnormal promyelocytes predominate." [HPO:probinson]
xref: MSH:D015473
xref: SNOMEDCT_US:110004001
xref: SNOMEDCT_US:28950004
xref: UMLS:C0023487
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0004839
name: Pyropoikilocytosis
alt_id: HP:0004805
def: "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn." [HPO:probinson, pmid:16304353]
synonym: "hereditary pyropoikilocytosis" EXACT []
xref: MSH:C563004
xref: SNOMEDCT_US:9434008
xref: UMLS:C0520739
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0004840
name: Hypochromic microcytic anemia
alt_id: HP:0004842
def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [HPO:probinson]
synonym: "Hypochromic, microcytic anemia" EXACT []
xref: MSH:C536357
xref: SNOMEDCT_US:44666001
xref: UMLS:C0271901
is_a: HP:0001931 ! Hypochromic anemia
is_a: HP:0001935 ! Microcytic anemia

[Term]
id: HP:0004841
name: Reduced factor XII activity
alt_id: HP:0005514
alt_id: HP:0005551
alt_id: HP:0008286
def: "Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade." [HPO:probinson]
synonym: "Factor XII deficiency" EXACT []
synonym: "Hageman factor deficiency" EXACT []
xref: MSH:D005175
xref: SNOMEDCT_US:46981006
xref: UMLS:C0015526
is_a: HP:0010989 ! Abnormality of the intrinsic pathway

[Term]
id: HP:0004844
name: Coombs-positive hemolytic anemia
alt_id: HP:0003539
def: "A type of hemolytic anemia in which the Coombs test is positive." [HPO:probinson]
comment: The Coombs test measures a coating of immunoglobulin or complement on the red cell surface.
synonym: "Direct Coombs positive" EXACT []
xref: SNOMEDCT_US:74789008
xref: UMLS:C0520736
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004845
name: Acute monocytic leukemia
alt_id: HP:0004833
def: "The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation." [PMID:24904835]
synonym: "Acute monoblastic leukemia" EXACT []
synonym: "AML-M5" EXACT HP:0045077 []
synonym: "AMoL" EXACT HP:0045077 []
xref: MSH:D007948
xref: SNOMEDCT_US:22331004
xref: SNOMEDCT_US:413441006
xref: UMLS:C0023465
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0004846
name: Prolonged bleeding after surgery
def: "Bleeding that persists longer than the normal time following a surgical procedure." [HPO:probinson]
synonym: "Excessive bleeding during surgery" EXACT layperson []
synonym: "Prolonged bleeding after surgery" EXACT layperson []
synonym: "Protracted bleeding after surgery" EXACT layperson []
xref: UMLS:C4021646
is_a: HP:0011890 ! Prolonged bleeding following procedure

[Term]
id: HP:0004848
name: Ph-positive acute lymphoblastic leukemia
def: "A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity." [PMID:21472706]
synonym: "Philadelphia-positive acute lymphoblastic leukemia" EXACT []
xref: SNOMEDCT_US:425688002
xref: SNOMEDCT_US:426955004
xref: UMLS:C1960397
is_a: HP:0006721 ! Acute lymphoblastic leukemia

[Term]
id: HP:0004850
name: Recurrent deep vein thrombosis
def: "Repeated episodes of the formation of a blot clot in a deep vein." [HPO:probinson]
synonym: "Recurrent deep vein blood clot" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Recurrent venous thrombosis" EXACT []
xref: SNOMEDCT_US:710167004
xref: UMLS:C1735901
is_a: HP:0002625 ! Deep venous thrombosis

[Term]
id: HP:0004851
name: Folate-responsive megaloblastic anemia
def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate." [HPO:probinson]
xref: UMLS:C2749656
is_a: HP:0001889 ! Megaloblastic anemia

[Term]
id: HP:0004852
name: Reduced leukocyte alkaline phosphatase
def: "A decreased alkaline phosphatase activity measured within leukocytes." [HPO:probinson]
synonym: "Low leukocyte alkaline phosphatase" EXACT []
synonym: "Reduced leukocyte ALP" EXACT HP:0045077 []
xref: UMLS:C1850780
is_a: HP:0003282 ! Low alkaline phosphatase

[Term]
id: HP:0004854
name: Intermittent thrombocytopenia
def: "Reduced platelet count that occurs sporadically, i.e., it comes and goes." [HPO:probinson, pmid:8384898]
xref: UMLS:C1839167
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0004855
name: Reduced protein S activity
def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C." [HPO:probinson]
comment: Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis.
synonym: "Protein S deficiency" NARROW []
xref: MSH:D018455
xref: SNOMEDCT_US:1563006
xref: UMLS:C0242666
xref: UMLS:C4025284
is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway

[Term]
id: HP:0004856
name: Normochromic microcytic anemia
def: "A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [HPO:probinson]
xref: SNOMEDCT_US:4984008
xref: UMLS:C0271902
is_a: HP:0001935 ! Microcytic anemia

[Term]
id: HP:0004857
name: Hyperchromic macrocytic anemia
def: "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin." [HPO:probinson]
xref: UMLS:C3854594
is_a: HP:0001972 ! Macrocytic anemia

[Term]
id: HP:0004859
name: Amegakaryocytic thrombocytopenia
def: "Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes." [HPO:probinson]
xref: SNOMEDCT_US:234482009
xref: UMLS:C0398639
is_a: HP:0001873 ! Thrombocytopenia

[Term]
id: HP:0004860
name: Thiamine-responsive megaloblastic anemia
def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine." [HPO:probinson]
xref: SNOMEDCT_US:12907000
xref: UMLS:C0271972
is_a: HP:0001889 ! Megaloblastic anemia

[Term]
id: HP:0004861
name: Refractory macrocytic anemia
xref: UMLS:C2675059
is_a: HP:0001972 ! Macrocytic anemia

[Term]
id: HP:0004863
name: Compensated hemolytic anemia
xref: UMLS:C4025283
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004864
name: Refractory sideroblastic anemia
def: "A type of sideroblastic anemia that is not responsive to treatment." [HPO:probinson]
xref: MSH:D000756
xref: SNOMEDCT_US:41841004
xref: UMLS:C0002896
is_a: HP:0001924 ! Sideroblastic anemia

[Term]
id: HP:0004866
name: Impaired ADP-induced platelet aggregation
def: "Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP." [HPO:probinson, pmid:11413156]
xref: UMLS:C4025282
is_a: HP:0003540 ! Impaired platelet aggregation

[Term]
id: HP:0004870
name: Chronic hemolytic anemia
alt_id: HP:0004815
def: "An chronic form of hemolytic anemia." [HPO:probinson]
synonym: "hemolytic anemia, chronic" EXACT []
xref: SNOMEDCT_US:707480001
xref: UMLS:C1387532
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0004871
name: Perineal fistula
def: "The presence of a fistula between the bowel and the perineum." [HPO:probinson]
comment: The perineum is the diamond-shaped region of the body between the pubic arch and the anus.
xref: SNOMEDCT_US:284077005
xref: UMLS:C0561921
is_a: HP:0100589 ! Urogenital fistula

[Term]
id: HP:0004872
name: Incisional hernia
def: "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound." [HPO:probinson]
synonym: "Recurrent abdominal hernia" EXACT []
xref: MSH:D000069290
xref: SNOMEDCT_US:236037000
xref: SNOMEDCT_US:241556001
xref: UMLS:C0267716
xref: UMLS:C4021645
is_a: HP:0004299 ! Hernia of the abdominal wall

[Term]
id: HP:0004875
name: Neonatal inspiratory stridor
xref: UMLS:C4025281
is_a: HP:0002643 ! Neonatal respiratory distress
is_a: HP:0005348 ! Inspiratory stridor

[Term]
id: HP:0004876
name: Spontaneous neonatal pneumothorax
def: "Pneumothorax occurring neonatally without traumatic injury to the chest or lung." [HPO:probinson]
synonym: "Neonatal pneumothorax" EXACT []
xref: UMLS:C1857021
is_a: HP:0002108 ! Spontaneous pneumothorax

[Term]
id: HP:0004878
name: Intercostal muscle weakness
def: "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall." [HPO:probinson]
synonym: "Muscle weakness between ribs" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C0240017
is_a: HP:0000765 ! Abnormality of the thorax
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0004879
name: Intermittent hyperventilation
def: "Episodic hyperventilation." [HPO:probinson]
synonym: "Episodic hyperventilation" EXACT []
synonym: "Intermittent overbreathing" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:423427003
xref: UMLS:C1828017
is_a: HP:0002883 ! Hyperventilation

[Term]
id: HP:0004880
name: Respiratory infections in early life
def: "Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections." []
xref: UMLS:C4025280
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0004881
name: Episodic hypoventilation
synonym: "Episodic slow breathing" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Episodic under breathing" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1844946
is_a: HP:0002791 ! Hypoventilation

[Term]
id: HP:0004885
name: Episodic respiratory distress
synonym: "Episodic difficulty breathing" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "respiratory distress, episodic" EXACT []
xref: UMLS:C1844945
is_a: HP:0002098 ! Respiratory distress

[Term]
id: HP:0004886
name: Congenital laryngeal stridor
xref: SNOMEDCT_US:55490007
xref: UMLS:C0265763
is_a: HP:0005348 ! Inspiratory stridor

[Term]
id: HP:0004887
name: Respiratory failure requiring assisted ventilation
alt_id: HP:0004883
def: "A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation." [ORCID:0000-0002-7440-8864, PMID:18710593, PMID:28620428]
synonym: "Respiratory distress necessitating mechanical ventilation" EXACT []
synonym: "Respiratory distress requiring endotracheal intubation" EXACT []
synonym: "Respiratory distress requiring mechanical ventilation" EXACT []
xref: UMLS:C4025279
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0004889
name: Intermittent episodes of respiratory insufficiency due to muscle weakness
xref: UMLS:C3807025
is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness

[Term]
id: HP:0004890
name: Elevated pulmonary artery pressure
alt_id: HP:0004958
def: "An abnormally elevated blood pressure in the circulation of the pulmonary artery." [HPO:probinson]
synonym: "Elevated lung artery pressure" EXACT []
synonym: "increased pulmonary artery pressure" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3805917
is_a: HP:0030875 ! Abnormality of pulmonary circulation

[Term]
id: HP:0004891
name: Recurrent infections due to aspiration
def: "Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration." []
xref: UMLS:C3806285
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0004894
name: Laryngotracheal stenosis
xref: UMLS:C3806280
is_a: HP:0001602 ! Laryngeal stenosis
is_a: HP:0002777 ! Tracheal stenosis

[Term]
id: HP:0004897
name: Stress/infection-induced lactic acidosis
def: "A form of lactic acidemia that occurs in relation to stress or infection." [HPO:probinson]
xref: UMLS:C4025278
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004898
name: Persistent lactic acidosis
def: "A continuous form of lactic acidemia." [HPO:probinson]
xref: UMLS:C3554538
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004900
name: Severe lactic acidosis
def: "A severe form of lactic acidemia." [HPO:probinson]
xref: UMLS:C1839436
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004901
name: Exercise-induced lactic acidemia
def: "A form of lactic acidemia that occurs following exercise or exertion." [HPO:probinson, pmid:15308499]
synonym: "Exercise-induced lactic acidosis" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025277
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004902
name: Congenital lactic acidosis
def: "A form of lactic acidemia with congenital onset." [HPO:probinson]
xref: UMLS:C4025276
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004904
name: Maturity-onset diabetes of the young
def: "The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells." [HPO:probinson]
synonym: "Maturity onset diabetes of the young" EXACT []
synonym: "MODY" RELATED HP:0045077 [HPO:skoehler]
xref: MSH:C562772
xref: SNOMEDCT_US:609561005
xref: UMLS:C0342276
is_a: HP:0000819 ! Diabetes mellitus

[Term]
id: HP:0004905
name: Vitamin A deficiency
xref: MSH:D014802
xref: SNOMEDCT_US:72000004
xref: UMLS:C0042842
is_a: HP:0008372 ! Abnormality of vitamin A metabolism

[Term]
id: HP:0004906
name: Hypernatremic dehydration
xref: SNOMEDCT_US:427784006
xref: UMLS:C1850544
is_a: HP:0001986 ! Hypertonic dehydration

[Term]
id: HP:0004909
name: Hypokalemic hypochloremic metabolic alkalosis
xref: UMLS:C0740896
is_a: HP:0001960 ! Hypokalemic metabolic alkalosis
is_a: HP:0005977 ! Hypochloremic metabolic alkalosis

[Term]
id: HP:0004910
name: Bicarbonate-wasting renal tubular acidosis
synonym: "HCO3-wasting renal tubular acidosis" EXACT HP:0045077 []
synonym: "Renal bicarbonate wasting" EXACT []
xref: UMLS:C1858626
is_a: HP:0001947 ! Renal tubular acidosis

[Term]
id: HP:0004911
name: Episodic metabolic acidosis
alt_id: HP:0005963
def: "Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids." [HPO:probinson]
synonym: "Recurrent episodes of acidosis" EXACT []
xref: UMLS:C1859516
is_a: HP:0001942 ! Metabolic acidosis

[Term]
id: HP:0004912
name: Hypophosphatemic rickets
xref: MSH:D063730
xref: SNOMEDCT_US:66266003
xref: UMLS:C1704375
is_a: HP:0002148 ! Hypophosphatemia
is_a: HP:0002748 ! Rickets

[Term]
id: HP:0004913
name: Intermittent lactic acidemia
def: "An intermittent (discontinuous) form of lactic acidemia." [HPO:probinson]
xref: UMLS:C1844917
is_a: HP:0003128 ! Lactic acidosis

[Term]
id: HP:0004914
name: Recurrent infantile hypoglycemia
alt_id: HP:0004917
def: "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period." [HPO:probinson]
synonym: "Episodic infantile hypoglycemia" EXACT []
synonym: "Recurrent low blood sugar in infant" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4021644
is_a: HP:0001988 ! Recurrent hypoglycemia

[Term]
id: HP:0004915
name: Impairment of galactose metabolism
def: "An impairment of galactose metabolism." [HPO:probinson]
synonym: "Impaired galactose metabolism" EXACT [HPO:skoehler]
xref: UMLS:C4021643
is_a: HP:0032245 ! Abnormal metabolism

[Term]
id: HP:0004916
name: Generalized distal tubular acidosis
xref: UMLS:C4025275
is_a: HP:0008341 ! Distal renal tubular acidosis

[Term]
id: HP:0004918
name: Hyperchloremic metabolic acidosis
xref: UMLS:C1969073
is_a: HP:0001995 ! Hyperchloremic acidosis

[Term]
id: HP:0004919
name: Galactose intolerance
xref: MSH:D005693
xref: SNOMEDCT_US:190745006
xref: SNOMEDCT_US:190749000
xref: UMLS:C0016952
is_a: HP:0004915 ! Impairment of galactose metabolism

[Term]
id: HP:0004920
name: Phenylpyruvic acidemia
xref: UMLS:C1849926
is_a: HP:0032368 ! Acidemia

[Term]
id: HP:0004921
name: Abnormal magnesium concentration
alt_id: HP:0008274
def: "An abnormality of magnesium ion homeostasis." [HPO:probinson]
synonym: "Abnormal magnesium metabolism" RELATED []
synonym: "Abnormal Mg concentration" EXACT HP:0045077 []
synonym: "Abnormality of magnesium homeostasis" EXACT []
xref: UMLS:C4020826
xref: UMLS:C4025274
is_a: HP:0010927 ! Abnormal blood inorganic cation concentration

[Term]
id: HP:0004922
name: Atypical hyperphenylalaninemia
xref: UMLS:C4025273
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration

[Term]
id: HP:0004923
name: Hyperphenylalaninemia
def: "An increased concentration of L-phenylalanine in the blood." [HPO:probinson]
xref: MSH:D010661
xref: SNOMEDCT_US:68528007
xref: UMLS:C0751435
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration

[Term]
id: HP:0004924
name: Abnormal oral glucose tolerance
def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose." [HPO:probinson]
synonym: "Abnormal glucose oral tolerance test" EXACT []
xref: UMLS:C1847425
is_a: HP:0040270 ! Impaired glucose tolerance

[Term]
id: HP:0004925
name: Chronic lactic acidosis
alt_id: HP:0004899
def: "A chronic form of lactic acidemia." [HPO:probinson]
xref: UMLS:C1839437
is_a: HP:0003128 ! Lactic acidosis
is_a: HP:0012468 ! Chronic acidosis

[Term]
id: HP:0004926
name: Orthostatic hypotension due to autonomic dysfunction
xref: UMLS:C1868528
is_a: HP:0001278 ! Orthostatic hypotension

[Term]
id: HP:0004927
name: Pulmonary artery dilatation
def: "An abnormal widening of the diameter of the pulmonary artery." [HPO:probinson]
xref: SNOMEDCT_US:251047005
xref: UMLS:C0428851
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004928
name: obsolete Peripheral arterial stenosis
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0004929
name: obsolete Coronary atherosclerosis
is_obsolete: true
replaced_by: HP:0001677

[Term]
id: HP:0004930
name: Abnormality of the pulmonary vasculature
synonym: "Abnormality of the lung blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025271
is_a: HP:0002088 ! Abnormal lung morphology
is_a: HP:0002597 ! Abnormality of the vasculature
created_by: peter
creation_date: 2008-03-26T04:07:00Z

[Term]
id: HP:0004931
name: Arteriosclerosis of small cerebral arteries
def: "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain." [HPO:probinson]
synonym: "Hardened artery wall in small cerebral arteries" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025270
xref: UMLS:C4280505
is_a: HP:0002634 ! Arteriosclerosis
is_a: HP:0009145 ! Abnormal cerebral artery morphology

[Term]
id: HP:0004933
name: Ascending aortic dissection
def: "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson]
comment: According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch.
synonym: "Type A aortic dissection" EXACT []
xref: UMLS:C1836653
is_a: HP:0002647 ! Aortic dissection
is_a: HP:0031784 ! Abnormal ascending aorta morphology

[Term]
id: HP:0004934
name: Vascular calcification
def: "Abnormal calcification of the vasculature." [HPO:probinson]
xref: MSH:D061205
xref: SNOMEDCT_US:237897009
xref: UMLS:C0342649
is_a: HP:0011915 ! Cardiovascular calcification
is_a: HP:0025015 ! Abnormal vascular morphology

[Term]
id: HP:0004935
name: Pulmonary artery atresia
def: "A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery." [HPO:probinson]
comment: Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation.
synonym: "Pulmonary atresia" EXACT []
xref: SNOMEDCT_US:10930001
xref: SNOMEDCT_US:204443008
xref: UMLS:C0265908
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004936
name: Venous thrombosis
def: "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow." [HPO:probinson]
synonym: "Blood clot in vein" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D020246
xref: SNOMEDCT_US:111293003
xref: UMLS:C0042487
is_a: HP:0001977 ! Abnormal thrombosis

[Term]
id: HP:0004937
name: Pulmonary artery aneurysm
def: "An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery." [HPO:probinson]
xref: SNOMEDCT_US:194892009
xref: UMLS:C0155676
is_a: HP:0004927 ! Pulmonary artery dilatation

[Term]
id: HP:0004938
name: Tortuous cerebral arteries
def: "Excessive bending, twisting, and winding of a cerebral artery." [HPO:probinson]
synonym: "Twisted cerebral arteries" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1836791
is_a: HP:0005116 ! Arterial tortuosity
is_a: HP:0009145 ! Abnormal cerebral artery morphology

[Term]
id: HP:0004940
name: Generalized arterial calcification
alt_id: HP:0004967
def: "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body." [HPO:probinson]
xref: UMLS:C4025269
is_a: HP:0003207 ! Arterial calcification

[Term]
id: HP:0004941
name: Extrahepatic portal hypertension
def: "Increased pressure in the pre-hepatic portal vein." [HPO:probinson]
comment: Hypertension in the portal venous tree proper.
xref: UMLS:C4025268
is_a: HP:0001409 ! Portal hypertension
property_value: editor_notes "previous def: 'has part' some \n('increased pressure' and ('inheres in' some \n('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal))" xsd:string

[Term]
id: HP:0004942
name: Aortic aneurysm
alt_id: HP:0001724
def: "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter." []
comment: Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym.
synonym: "Aortic dilatation" EXACT []
synonym: "Bulge in wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:2301
xref: Fyler:2708
xref: MSH:D001014
xref: SNOMEDCT_US:67362008
xref: UMLS:C0003486
is_a: HP:0001679 ! Abnormal aortic morphology
is_a: HP:0002617 ! Dilatation

[Term]
id: HP:0004943
name: Accelerated atherosclerosis
def: "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors." [PMID:29040156]
synonym: "Accelerated plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849618
xref: UMLS:C4280504
is_a: HP:0002621 ! Atherosclerosis

[Term]
id: HP:0004944
name: Dilatation of the cerebral artery
alt_id: HP:0002618
alt_id: HP:0006816
def: "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Brain aneurysm" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Cerebral aneurysm" NARROW []
synonym: "Cerebral artery aneurysm" NARROW []
synonym: "Intracranial aneurysm" BROAD []
xref: MSH:D002532
xref: SNOMEDCT_US:128608001
xref: UMLS:C0751003
xref: UMLS:C1290398
is_a: HP:0002617 ! Dilatation
is_a: HP:0009145 ! Abnormal cerebral artery morphology

[Term]
id: HP:0004945
name: Extracranial internal carotid artery dissection
def: "A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall." [HPO:probinson]
xref: UMLS:C4025267
is_a: HP:0005294 ! Arterial dissection
is_a: HP:0012159 ! Internal carotid artery dissection

[Term]
id: HP:0004947
name: Arteriovenous fistula
alt_id: HP:0004946
def: "An abnormal connection between an artery and vein." [https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567]
synonym: "Arteriovenous fistulas" EXACT []
xref: MSH:D001164
xref: SNOMEDCT_US:128617001
xref: SNOMEDCT_US:439470001
xref: UMLS:C0003855
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0004948
name: Vascular tortuosity
def: "Abnormal twisting of arteries or veins." [PMID:22433458]
synonym: "Twisted blood vessels" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C2673776
is_a: HP:0025015 ! Abnormal vascular morphology

[Term]
id: HP:0004950
name: Peripheral arterial stenosis
alt_id: HP:0004928
alt_id: HP:0004973
alt_id: HP:0005296
alt_id: HP:0005299
alt_id: HP:0005309
alt_id: HP:0005315
alt_id: HP:0005794
def: "Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication." []
comment: The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease.
synonym: "Arterial disease of legs" RELATED []
synonym: "Occlusive arterial disease" RELATED []
synonym: "Occlusive vascular disease" RELATED []
synonym: "Peripheral artery disease" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Peripheral artery occlusive disease" RELATED []
synonym: "Peripheral vascular disease" RELATED [HPO:probinson]
xref: MSH:D016491
xref: MSH:D058729
xref: SNOMEDCT_US:399957001
xref: SNOMEDCT_US:400047006
xref: UMLS:C0085096
xref: UMLS:C1704436
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0004952
name: Pulmonary arteriovenous fistulas
def: "A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed." [PMID:27122941]
xref: MSH:C562404
xref: SNOMEDCT_US:111289009
xref: UMLS:C0155675
is_a: HP:0004947 ! Arteriovenous fistula

[Term]
id: HP:0004953
name: obsolete Dilatation of abdominal aorta
is_obsolete: true
replaced_by: HP:0005112

[Term]
id: HP:0004954
name: obsolete Dilatation of the descending aorta
is_obsolete: true
replaced_by: HP:0004959

[Term]
id: HP:0004955
name: Generalized arterial tortuosity
def: "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries." [HPO:probinson]
synonym: "Arterial tortuosity, general" RELATED [HPO:skoehler]
synonym: "Arterial tortuosity, generalized" RELATED [HPO:skoehler]
synonym: "Generalized twisted arteries" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1836651
xref: UMLS:C3279191
is_a: HP:0005116 ! Arterial tortuosity

[Term]
id: HP:0004959
name: Descending thoracic aorta aneurysm
alt_id: HP:0004954
def: "An abnormal localized widening (dilatation) of the descending thoracic aorta." []
synonym: "Dilatation of the descending thoracic aorta" BROAD []
xref: Fyler:2754
xref: UMLS:C4025266
is_a: HP:0012727 ! Thoracic aortic aneurysm
created_by: peter
creation_date: 2008-03-25T06:32:00Z

[Term]
id: HP:0004960
name: Absent pulmonary artery
def: "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery." [HPO:probinson, pmid:17192541]
comment: This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP.
synonym: "Absent lung artery" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Missing pulmonary artery" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:86252004
xref: UMLS:C0265905
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004961
name: Pulmonary artery sling
def: "An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum." [DDD:dbrown, pmid:16549603, pmid:18458183]
xref: UMLS:C1856123
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004962
name: Thoracic aorta calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta." [HPO:probinson]
xref: UMLS:C1969292
is_a: HP:0004963 ! Calcification of the aorta

[Term]
id: HP:0004963
name: Calcification of the aorta
def: "Calcification, that is, pathological deposition of calcium salts in the aorta." [HPO:probinson]
comment: Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself.
xref: UMLS:C1096249
is_a: HP:0001679 ! Abnormal aortic morphology
is_a: HP:0003207 ! Arterial calcification

[Term]
id: HP:0004964
name: Pulmonary arterial medial hypertrophy
alt_id: HP:0004939
def: "Increase in mass of the tunica media of the arteries in the pulmonary circulation." [HPO:probinson]
synonym: "Hypertrophy of the pulmonary artery wall" EXACT []
xref: UMLS:C1504382
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004966
name: Medial calcification of large arteries
def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries." [HPO:probinson]
xref: UMLS:C4025265
is_a: HP:0012456 ! Medial arterial calcification

[Term]
id: HP:0004968
name: Recurrent cerebral hemorrhage
def: "Recurrent bleeding into the parenchyma of the brain." [DDD:dbrown]
synonym: "Recurrent hemorrhagic stroke" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025264
is_a: HP:0001342 ! Cerebral hemorrhage

[Term]
id: HP:0004969
name: Peripheral pulmonary artery stenosis
alt_id: HP:0004957
def: "Stenosis of a peripheral branch of the pulmonary artery." [HPO:probinson]
synonym: "Narrowing of peripheral lung artery" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "peripheral pulmonary stenosis" EXACT []
synonym: "Peripheral pulmonic stenosis" EXACT []
xref: SNOMEDCT_US:253631001
xref: UMLS:C0345030
is_a: HP:0004415 ! Pulmonary artery stenosis

[Term]
id: HP:0004970
name: Ascending tubular aorta aneurysm
alt_id: HP:0005111
alt_id: HP:0005128
def: "An abnormal localized widening (dilatation) of the tubular part of the ascending aorta." []
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Aneurysm of the ascending tubular aorta" EXACT []
synonym: "Ascending aorta dilation" BROAD []
synonym: "Ascending aortic aneurysm" EXACT []
synonym: "Ascending aortic dilation" EXACT []
synonym: "Bulging of wall of large artery located above heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Dilatation of ascending aorta" EXACT []
xref: Fyler:2310
xref: Fyler:2701
xref: SNOMEDCT_US:253645007
xref: UMLS:C0345049
is_a: HP:0012727 ! Thoracic aortic aneurysm

[Term]
id: HP:0004971
name: Pulmonary artery hypoplasia
def: "Underdevelopment of the pulmonary artery." [HPO:probinson]
synonym: "Underdeveloped lung artery" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped pulmonary artery" EXACT [ORCID:0000-0001-6908-9849]
xref: Fyler:2966
xref: SNOMEDCT_US:54682008
xref: UMLS:C0265910
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0004972
name: Elevated mean arterial pressure
def: "An abnormal increase in the average blood pressure in an individual during a single cardiac cycle." [PMID:18451345]
xref: UMLS:C1840376
is_a: HP:0032263 ! Increased blood pressure

[Term]
id: HP:0004974
name: Coarctation of abdominal aorta
def: "Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta." [HPO:probinson]
xref: UMLS:C4025263
is_a: HP:0001680 ! Coarctation of aorta

[Term]
id: HP:0004975
name: Erlenmeyer flask deformity of the femurs
alt_id: HP:0006422
def: "Flaring of distal femur." [HPO:probinson]
synonym: "Erlenmeyer flask deformity of distal femur" EXACT []
synonym: "Erlenmeyer flask femora" EXACT []
synonym: "Erlenmeyer flask shaped thighbone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1855895
is_a: HP:0002823 ! Abnormality of femur morphology

[Term]
id: HP:0004976
name: Knee dislocation
alt_id: HP:0006469
synonym: "Dislocations of the knees" EXACT []
synonym: "Knee dislocations" EXACT []
xref: MSH:D031221
xref: SNOMEDCT_US:58320001
xref: UMLS:C0159970
is_a: HP:0002815 ! Abnormality of the knee
is_a: HP:0030311 ! Lower extremity joint dislocation

[Term]
id: HP:0004977
name: Bilateral radial aplasia
alt_id: HP:0005870
def: "Missing radius bone on both sides associated with congenital failure of development." [HPO:probinson]
synonym: "Bilateral absence of radius" EXACT []
xref: UMLS:C1848840
is_a: HP:0003974 ! Absent radius

[Term]
id: HP:0004979
name: Metaphyseal sclerosis
def: "Abnormally increased density of metaphyseal bone." [HPO:probinson]
synonym: "Increased bone density in wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerotic metaphyses" EXACT []
xref: UMLS:C3552526
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0004980
name: Metaphyseal rarefaction
def: "Reduction in density of metaphyseal bony tissue." [HPO:probinson]
synonym: "Rarefaction of the metaphyses" EXACT []
xref: UMLS:C1832146
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0004981
name: Prominent styloid process of ulna
xref: UMLS:C4025262
is_a: HP:0004035 ! Abnormality of the styloid process of ulna

[Term]
id: HP:0004986
name: obsolete Rudimentary to absent fibulae
is_obsolete: true
replaced_by: HP:0006381

[Term]
id: HP:0004987
name: Mesomelic leg shortening
def: "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [HPO:sdoelken]
synonym: "Mesomelia of the lower limbs" EXACT []
synonym: "Mesomelic lower limb shortening" EXACT []
xref: UMLS:C1969178
is_a: HP:0003027 ! Mesomelia

[Term]
id: HP:0004990
name: Epiphyseal streaking
xref: UMLS:C1858039
is_a: HP:0005930 ! Abnormality of epiphysis morphology

[Term]
id: HP:0004991
name: Rhizomelic arm shortening
def: "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)." [HPO:probinson]
xref: UMLS:C1969532
is_a: HP:0008905 ! Rhizomelia

[Term]
id: HP:0004993
name: Slender long bones with narrow diaphyses
def: "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones." [HPO:probinson]
synonym: "Slender long bones with narrow shaft" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2675547
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0003100 ! Slender long bone

[Term]
id: HP:0004997
name: Multicentric ossification of proximal humeral epiphyses
xref: UMLS:C1857192
is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses

[Term]
id: HP:0005001
name: Recurrent patellar dislocation
def: "Patellar dislocation occurring repeated times." [HPO:curators]
synonym: "Recurrent dislocation of patellas" EXACT []
xref: SNOMEDCT_US:202246002
xref: UMLS:C0409412
is_a: HP:0002999 ! Patellar dislocation
is_a: HP:0031869 ! Recurrent joint dislocation

[Term]
id: HP:0005003
name: Aplasia/Hypoplasia of the capital femoral epiphysis
def: "Absence or underdevelopment of the proximal epiphysis of the femur." [HPO:probinson]
synonym: "Absent/small end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025261
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0010577 ! Absent epiphyses

[Term]
id: HP:0005004
name: Flattened proximal radial epiphyses
def: "An abnormally flat form of the proximal epiphysis of the radius." [HPO:curators]
xref: UMLS:C1849065
is_a: HP:0004002 ! Flattened radial epiphyses
is_a: HP:0010597 ! Abnormality of the distal radial epiphysis

[Term]
id: HP:0005005
name: Femoral bowing present at birth, straightening with time
def: "Congenital onset bending or abnormal curvature of the femur that normalizes with age." [HPO:probinson]
comment: This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement.
synonym: "Bowing of thighbone at birth, straightening with time" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1833754
is_a: HP:0002980 ! Femoral bowing

[Term]
id: HP:0005008
name: Large joint dislocations
synonym: "Large joint dislocations" EXACT layperson []
xref: UMLS:C4025260
is_a: HP:0001373 ! Joint dislocation

[Term]
id: HP:0005009
name: Dumbbell-shaped humerus
def: "The humerus is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson]
synonym: "Dumbbell-shaped long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025259
is_a: HP:0000947 ! Dumbbell-shaped long bone

[Term]
id: HP:0005010
name: Osteomyelitis leading to amputation due to slow healing fractures
xref: UMLS:C1864975
is_a: HP:0002754 ! Osteomyelitis

[Term]
id: HP:0005011
name: Mesomelic arm shortening
alt_id: HP:0005024
alt_id: HP:0006455
def: "Shortening of the middle parts of the arm in relation to the upper and terminal segments." [HPO:sdoelken]
synonym: "Mesomelia of the upper limbs" EXACT []
synonym: "Upper limb brachymesomelia" EXACT []
xref: UMLS:C1862087
is_a: HP:0003027 ! Mesomelia

[Term]
id: HP:0005013
name: Dysplastic distal radial epiphyses
def: "Abnormally developed (dysplastic) distal epiphysis of the radius." [HPO:curators]
xref: UMLS:C1862131
is_a: HP:0010597 ! Abnormality of the distal radial epiphysis

[Term]
id: HP:0005017
name: Polyarticular chondrocalcinosis
xref: UMLS:C4025258
is_a: HP:0000934 ! Chondrocalcinosis

[Term]
id: HP:0005019
name: Diaphyseal thickening
synonym: "Thickening of shaft or central part of long bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1835473
is_a: HP:0000940 ! Abnormal diaphysis morphology

[Term]
id: HP:0005021
name: Bilateral elbow dislocations
synonym: "Dislocated elbows on both sides" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3278429
is_a: HP:0003042 ! Elbow dislocation

[Term]
id: HP:0005025
name: Hypoplastic distal humeri
def: "Underdevelopment of the distal portion of the humerus." [HPO:probinson]
xref: UMLS:C1968607
is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus

[Term]
id: HP:0005026
name: Mesomelic/rhizomelic limb shortening
xref: UMLS:C1866239
is_a: HP:0008905 ! Rhizomelia

[Term]
id: HP:0005028
name: Widened proximal tibial metaphyses
synonym: "Wide innermost wide portion of shankbone bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide innermost wide portion of shinbone bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836187
is_a: HP:0003016 ! Metaphyseal widening

[Term]
id: HP:0005033
name: Distal ulnar hypoplasia
alt_id: HP:0006474
def: "Underdevelopment of the distal portion of the ulna." [HPO:probinson]
synonym: "Distal shortening of ulna" EXACT []
synonym: "Hypoplastic distal ulna" EXACT []
xref: UMLS:C1833145
is_a: HP:0003022 ! Hypoplasia of the ulna

[Term]
id: HP:0005035
name: Shortening of all phalanges of the toes
def: "Developmental hypoplasia (shortening) of all phalanges of the foot." [HPO:probinson]
synonym: "Short toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025257
is_a: HP:0001831 ! Short toe
is_a: HP:0010161 ! Abnormality of the phalanges of the toes

[Term]
id: HP:0005036
name: Unilateral ulnar hypoplasia
def: "Underdevelopment of the ulna on only one side." [HPO:probinson]
xref: UMLS:C1837832
is_a: HP:0003022 ! Hypoplasia of the ulna

[Term]
id: HP:0005037
name: Proximal radio-ulnar synostosis
def: "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [HPO:curators]
xref: UMLS:C2676443
is_a: HP:0002974 ! Radioulnar synostosis

[Term]
id: HP:0005039
name: Multiple long-bone exostoses
def: "Multiple exostoses originating in long bones." [HPO:probinson]
synonym: "Multiple exostoses of long tubular bones" EXACT []
xref: UMLS:C1835583
is_a: HP:0002762 ! Multiple exostoses

[Term]
id: HP:0005041
name: Irregular capital femoral epiphysis
alt_id: HP:0008806
def: "Irregular surface of the normally relatively smooth capital femoral epiphysis." [HPO:probinson]
synonym: "Irregular capital femoral epiphyses" RELATED []
synonym: "Irregular end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular proximal femoral epiphyses" EXACT []
xref: UMLS:C4020825
is_a: HP:0006361 ! Irregular femoral epiphysis
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0005042
name: Irregular, rachitic-like metaphyses
xref: UMLS:C1866700
is_a: HP:0003025 ! Metaphyseal irregularity

[Term]
id: HP:0005043
name: Proximal humeral metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder)." [HPO:probinson]
synonym: "Irregular proximal humeral metaphyses" EXACT []
xref: UMLS:C1865128
is_a: HP:0003913 ! Humeral metaphyseal irregularity

[Term]
id: HP:0005045
name: Diaphyseal cortical sclerosis
def: "An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
xref: UMLS:C1833739
is_a: HP:0003034 ! Diaphyseal sclerosis

[Term]
id: HP:0005048
name: Synostosis of carpal bones
synonym: "Fusion of carpal bones" EXACT []
synonym: "Fusion of wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836193
is_a: HP:0009702 ! Carpal synostosis

[Term]
id: HP:0005050
name: Anterolateral radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction." [HPO:probinson]
synonym: "Anterior/lateral radial head dislocation" EXACT []
xref: UMLS:C1968610
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005054
name: Metaphyseal spurs
alt_id: HP:0005088
def: "Bony outgrowths that extend laterally from the margin of the metaphysis." [HPO:probinson]
xref: UMLS:C1832988
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0005059
name: Arthralgia/arthritis
synonym: "Joint pain/Joint inflammation" EXACT layperson []
xref: UMLS:C4025256
is_a: HP:0001369 ! Arthritis
is_a: HP:0002829 ! Arthralgia

[Term]
id: HP:0005060
name: Limited elbow flexion/extension
xref: UMLS:C1968605
is_a: HP:0001377 ! Limited elbow extension
is_a: HP:0006376 ! Limited elbow flexion

[Term]
id: HP:0005063
name: Fragmented, irregular epiphyses
synonym: "Fragmented, irregular end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1867494
is_a: HP:0010582 ! Irregular epiphyses
is_a: HP:0100168 ! Fragmented epiphyses

[Term]
id: HP:0005066
name: Cone-shaped epiphyses fused within their metaphyses
synonym: "Cone-shaped end part of long bone fused within their wide portion of wide bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025255
is_a: HP:0010579 ! Cone-shaped epiphysis

[Term]
id: HP:0005067
name: Proximal fibular overgrowth
def: "Overgrowth of the proximal part of the fibula." [HPO:curators]
synonym: "Overgrowth of innermost part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2673395
is_a: HP:0003099 ! Fibular overgrowth

[Term]
id: HP:0005068
name: Absent styloid process of ulna
xref: UMLS:C4025254
is_a: HP:0004035 ! Abnormality of the styloid process of ulna

[Term]
id: HP:0005069
name: Rhizo-meso-acromelic limb shortening
xref: UMLS:C2673654
is_a: HP:0008905 ! Rhizomelia

[Term]
id: HP:0005070
name: Proximal radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction." [HPO:probinson]
xref: UMLS:C1865570
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005072
name: Hyperextensibility at wrists
def: "The ability of the wrist joints to move beyond their normal range of motion." [HPO:curators]
synonym: "Increased laxity of wrists" EXACT []
synonym: "Increased wrist mobility" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1850853
is_a: HP:0001382 ! Joint hypermobility

[Term]
id: HP:0005084
name: Anterior radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction." [HPO:probinson]
synonym: "Anterior dislocation of radial head" EXACT []
xref: UMLS:C2674451
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005085
name: Limited knee flexion/extension
def: "A limited ability of the knee joint extension and flexion." [HPO:curators]
xref: UMLS:C1968606
is_a: HP:0003066 ! Limited knee extension
is_a: HP:0006389 ! Limited knee flexion

[Term]
id: HP:0005086
name: Knee osteoarthritis
xref: MSH:D020370
xref: SNOMEDCT_US:239873007
xref: UMLS:C0409959
is_a: HP:0002758 ! Osteoarthritis
is_a: HP:0002815 ! Abnormality of the knee

[Term]
id: HP:0005089
name: Abnormal metaphyseal trabeculation
alt_id: HP:0006360
def: "An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone." [HPO:probinson]
xref: UMLS:C1857139
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0005090
name: Lateral femoral bowing
alt_id: HP:0005022
def: "A lateral bending or abnormal curvature of the femur." [HPO:probinson]
xref: UMLS:C1866737
is_a: HP:0002980 ! Femoral bowing

[Term]
id: HP:0005092
name: Streaky metaphyseal sclerosis
def: "The presence of streaks (bands) of abnormally increased density of metaphyseal bone." [HPO:probinson]
synonym: "Streak increase in bone density in wide portion of wide bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025253
is_a: HP:0004979 ! Metaphyseal sclerosis

[Term]
id: HP:0005093
name: Absent proximal radial epiphyses
def: "Absence of the proximal radial epiphysis." [HPO:curators]
xref: UMLS:C1855301
is_a: HP:0010577 ! Absent epiphyses
is_a: HP:0010596 ! Abnormality of the proximal radial epiphysis

[Term]
id: HP:0005096
name: Distal femoral bowing
def: "A bending or abnormal curvature of the distal portion of the femur." [HPO:probinson]
xref: UMLS:C1860107
is_a: HP:0002980 ! Femoral bowing

[Term]
id: HP:0005099
name: Severe hydrops fetalis
synonym: "Severe hydrops" EXACT []
xref: UMLS:C1866048
is_a: HP:0001789 ! Hydrops fetalis

[Term]
id: HP:0005100
name: Premature birth following premature rupture of fetal membranes
xref: UMLS:C1851833
is_a: HP:0001622 ! Premature birth
is_a: HP:0001788 ! Premature rupture of membranes

[Term]
id: HP:0005101
name: High-frequency hearing impairment
alt_id: HP:0008522
alt_id: HP:0008584
alt_id: HP:0008597
def: "A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)." [HPO:probinson]
comment: High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally.
synonym: "Hearing loss, high-frequency" EXACT layperson []
synonym: "High frequency hearing loss" EXACT layperson []
synonym: "High-frequency deafness" EXACT []
synonym: "Progressive high frequency hearing loss" EXACT layperson []
synonym: "Progressive high-frequency hearing loss" EXACT []
xref: MSH:D006316
xref: SNOMEDCT_US:232326009
xref: SNOMEDCT_US:48758008
xref: UMLS:C0018780
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2008-03-25T05:03:00Z

[Term]
id: HP:0005102
name: Cochlear degeneration
alt_id: HP:0008156
def: "Deterioration or loss of the tissues of the cochlea." [HPO:probinson]
synonym: "Progressive cochlear degeneration" EXACT []
xref: UMLS:C1849095
is_a: HP:0000375 ! Abnormal cochlea morphology
created_by: peter
creation_date: 2008-03-25T05:06:00Z

[Term]
id: HP:0005103
name: Calcification of the auricular cartilage
alt_id: HP:0008549
def: "Ossification affecting the external ear cartilage." [HPO:probinson, pmid:15523361, pmid:23259082]
synonym: "Cartilaginous ossification of pinnae" EXACT []
synonym: "Ear cartilage calcification" RELATED []
synonym: "Ossification of pinnae" EXACT []
synonym: "Petrified ear" EXACT []
xref: UMLS:C1408806
is_a: HP:0000377 ! Abnormality of the pinna
is_a: HP:0100593 ! Calcification of cartilage
is_a: HP:3000022 ! Abnormality of cartilage of external ear
created_by: peter
creation_date: 2008-03-25T05:09:00Z

[Term]
id: HP:0005104
name: Hypoplastic nasal septum
def: "Underdevelopment of the nasal septum." [HPO:curators]
synonym: "Decreased size of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of septum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1861328
is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum
created_by: peter
creation_date: 2008-03-25T05:15:00Z

[Term]
id: HP:0005105
name: Abnormal nasal morphology
comment: This is a category for overall abnormal morphology that may be replaced later with more exact descriptions.
synonym: "Abnormal nose morphology" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormal of morphology of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal of nasal shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal of shape of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: Fyler:4870
xref: UMLS:C4025252
is_a: HP:0000366 ! Abnormality of the nose
created_by: peter
creation_date: 2008-03-25T05:21:00Z

[Term]
id: HP:0005106
name: Abnormality of the vertebral endplates
def: "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs." [HPO:curators]
xref: UMLS:C4025251
is_a: HP:0003312 ! Abnormal form of the vertebral bodies
created_by: peter
creation_date: 2008-03-25T06:01:00Z

[Term]
id: HP:0005107
name: Abnormal sacrum morphology
def: "An abnormality of the sacral bone." [HPO:probinson]
comment: The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5.
subset: hposlim_core
synonym: "Abnormality of the sacrum" EXACT []
xref: UMLS:C4025250
is_a: HP:0000925 ! Abnormality of the vertebral column
created_by: peter
creation_date: 2008-03-25T06:03:00Z

[Term]
id: HP:0005108
name: Abnormality of the intervertebral disk
def: "An abnormality of the intervertebral disk." [HPO:probinson]
comment: Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies.
subset: hposlim_core
xref: UMLS:C4025249
is_a: HP:0000925 ! Abnormality of the vertebral column
created_by: peter
creation_date: 2008-03-25T06:05:00Z

[Term]
id: HP:0005109
name: Abnormality of the Achilles tendon
def: "An abnormality of the Achilles tendon." [HPO:probinson]
synonym: "Abnormality of the Achilles tendon" EXACT layperson []
synonym: "Abnormality of the calcaneal tendon" EXACT []
xref: UMLS:C4021642
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0100261 ! Abnormal tendon morphology
created_by: peter
creation_date: 2008-03-25T06:21:00Z

[Term]
id: HP:0005110
name: Atrial fibrillation
alt_id: HP:0001715
alt_id: HP:0005179
def: "An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute." [HPO:probinson]
comment: The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately.
synonym: "Quivering upper heart chambers resulting in irregular heartbeat" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D001281
xref: SNOMEDCT_US:49436004
xref: UMLS:C0004238
is_a: HP:0001692 ! Atrial arrhythmia
created_by: peter
creation_date: 2008-03-25T06:29:00Z

[Term]
id: HP:0005111
name: obsolete Dilatation of the ascending aorta
is_obsolete: true
replaced_by: HP:0004970

[Term]
id: HP:0005112
name: Abdominal aortic aneurysm
alt_id: HP:0004953
def: "An abnormal localized widening (dilatation) of the abdominal aorta." []
synonym: "Dilatation of the abdominal aorta" BROAD []
xref: UMLS:C4025248
is_a: HP:0004942 ! Aortic aneurysm
created_by: peter
creation_date: 2008-03-25T06:33:00Z

[Term]
id: HP:0005113
name: Aortic arch aneurysm
alt_id: HP:0004965
def: "An abnormal localized widening (dilatation) of the aortic arch." []
synonym: "Aortic arch dilatation" BROAD []
synonym: "Dilatation of the aortic arch" BROAD []
xref: Fyler:2706
xref: UMLS:C1851119
is_a: HP:0012727 ! Thoracic aortic aneurysm
created_by: peter
creation_date: 2008-03-25T06:34:00Z

[Term]
id: HP:0005114
name: obsolete Abnormalities of the peripheral arteries
is_obsolete: true
replaced_by: HP:0011004

[Term]
id: HP:0005115
name: Supraventricular arrhythmia
def: "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm." [HPO:probinson]
comment: Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles.
synonym: "arrhythmias, Supraventricular" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:72654001
xref: UMLS:C0428974
is_a: HP:0011675 ! Arrhythmia
created_by: peter
creation_date: 2008-03-25T06:37:00Z

[Term]
id: HP:0005116
name: Arterial tortuosity
def: "Abnormal tortuous (i.e., twisted) form of arteries." [HPO:curators]
xref: UMLS:C3279191
is_a: HP:0004948 ! Vascular tortuosity
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: peter
creation_date: 2008-03-25T06:39:00Z

[Term]
id: HP:0005117
name: Elevated diastolic blood pressure
def: "Abnormal increase in diastolic blood pressure." [HPO:probinson]
comment: Normal diastolic blood pressure is less than 80 mmHg.
synonym: "Elevated diastolic BP" EXACT HP:0045077 []
xref: UMLS:C1840375
is_a: HP:0032263 ! Increased blood pressure
created_by: peter
creation_date: 2008-03-25T06:43:00Z

[Term]
id: HP:0005120
name: Abnormal cardiac atrium morphology
def: "Any structural abnormality of a cardiac atrium." [HPO:probinson]
synonym: "Abnormality of cardiac atrium morphology" EXACT []
synonym: "Abnormality of heart atrium" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025246
is_a: HP:0001627 ! Abnormal heart morphology
created_by: peter
creation_date: 2008-03-26T04:12:00Z

[Term]
id: HP:0005121
name: Posterior scalloping of vertebral bodies
alt_id: HP:0004572
alt_id: HP:0004579
def: "An excessive concavity of the posterior surface of one or more vertebral bodies." [HPO:probinson]
comment: The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors.
synonym: "Posterior vertebral body scalloping" EXACT []
xref: UMLS:C1850196
is_a: HP:0004586 ! Biconcave vertebral bodies

[Term]
id: HP:0005129
name: Congenital hypertrophy of left ventricle
xref: UMLS:C1855901
is_a: HP:0001712 ! Left ventricular hypertrophy

[Term]
id: HP:0005130
name: obsolete Restrictive heart failure
is_obsolete: true
replaced_by: HP:0001723

[Term]
id: HP:0005132
name: Pericardial constriction
def: "Compression of the heart caused by rigid, thickened, or fused pericardial membranes." [PMID:14966039]
xref: UMLS:C0240709
is_a: HP:0001697 ! Abnormal pericardium morphology

[Term]
id: HP:0005133
name: Right ventricular dilatation
def: "Enlargement of the chamber of the right ventricle." [HPO:probinson, pmid:17715105]
synonym: "Dilated heart right ventricle" EXACT []
xref: Fyler:1827
xref: Fyler:2333
xref: SNOMEDCT_US:253522006
xref: UMLS:C0344893
is_a: HP:0001707 ! Abnormal right ventricle morphology

[Term]
id: HP:0005134
name: Absence of the pulmonary valve
alt_id: HP:0005131
def: "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries." [DDD:dbrown]
comment: The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients.
synonym: "Absent pulmonary valve" EXACT []
xref: SNOMEDCT_US:6996004
xref: UMLS:C0265831
is_a: HP:0001641 ! Abnormal pulmonary valve morphology

[Term]
id: HP:0005135
name: Abnormal T-wave
def: "An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles." [HPO:probinson]
synonym: "EKG: T-wave abnormalities" EXACT []
synonym: "T-wave abnormalities" EXACT []
xref: UMLS:C4025245
is_a: HP:0003115 ! Abnormal EKG

[Term]
id: HP:0005136
name: Mitral annular calcification
def: "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus." [HPO:probinson, PMID:23587525]
comment: MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual.
synonym: "Premature calcification of mitral annulus" EXACT []
xref: UMLS:C1835130
is_a: HP:0004382 ! Mitral valve calcification

[Term]
id: HP:0005141
name: obsolete Episodes of ventricular tachycardia
is_obsolete: true
replaced_by: HP:0004751

[Term]
id: HP:0005143
name: Anomalous origin of right pulmonary artery from ascending aorta
def: "The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [DDD:dbrown]
xref: SNOMEDCT_US:253634009
xref: UMLS:C0345037
is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta

[Term]
id: HP:0005144
name: Ventricular septal hypertrophy
def: "The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle." [http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4, PMID:21349577]
synonym: "Thickened interventricular septum" EXACT []
xref: UMLS:C1845019
is_a: HP:0010438 ! Abnormal ventricular septum morphology

[Term]
id: HP:0005145
name: Coronary artery stenosis
def: "Abnormal narrowing of the coronary artery." []
synonym: "Narrowing of coronary artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D023921
xref: SNOMEDCT_US:233970002
xref: UMLS:C0242231
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0005146
name: Cardiac valve calcification
def: "Abnormal calcification of a cardiac valve." [HPO:probinson]
synonym: "Calcifications of the cardiac valves" EXACT []
xref: UMLS:C1856483
is_a: HP:0001654 ! Abnormal heart valve morphology
is_a: HP:0011915 ! Cardiovascular calcification

[Term]
id: HP:0005147
name: Bidirectional ventricular ectopy
xref: UMLS:C1969410
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0005148
name: Pulmonary valve defects
def: "Any defect in the valve connecting the heart and the pulmonary artery." []
xref: UMLS:C1860165
is_a: HP:0001641 ! Abnormal pulmonary valve morphology

[Term]
id: HP:0005150
name: Abnormal atrioventricular conduction
def: "An impairment of the electrical continuity between the atria and ventricles." [PMID:15372490]
xref: UMLS:C4025244
is_a: HP:0031546 ! Cardiac conduction abnormality

[Term]
id: HP:0005151
name: Preductal coarctation of the aorta
def: "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch." [DDD:dbrown]
comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues.
synonym: "Proximal aortic coarctation" EXACT []
xref: SNOMEDCT_US:13867009
xref: UMLS:C0265878
is_a: HP:0012305 ! Coarctation of the descending aortic arch

[Term]
id: HP:0005152
name: Histiocytoid cardiomyopathy
def: "A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells." [PMID:21585276, PMID:28050600]
comment: This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years.
synonym: "Arachnocytosis of the myocardium" EXACT []
synonym: "Foamy myocardial transformation" EXACT []
synonym: "Focal lipid cardiomyopathy" EXACT []
synonym: "Infantile cardiomyopathy with histiocytoid changes" EXACT []
synonym: "Infantile xanthomatous cardiomyopathy" EXACT []
synonym: "Isolated cardiac lipidosis" EXACT []
synonym: "Myocardial or conduction system hamartoma" EXACT []
synonym: "Oncocytic cardiomyopathy" EXACT []
xref: MSH:C535584
xref: UMLS:C1708371
is_a: HP:0001638 ! Cardiomyopathy

[Term]
id: HP:0005155
name: Ventricular escape rhythm
def: "A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms)." []
synonym: "Idioventricular escape rhythm" EXACT []
xref: SNOMEDCT_US:81898007
xref: UMLS:C0232216
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0005156
name: Hypoplastic left atrium
def: "Underdeveloped, small left heart atrium" []
synonym: "Left atrium hypoplasia" EXACT []
synonym: "Underdeveloped left heart atrium" EXACT []
xref: Fyler:3040
xref: UMLS:C1970625
is_a: HP:0025579 ! Abnormal left atrium morphology

[Term]
id: HP:0005157
name: Concentric hypertrophic cardiomyopathy
alt_id: HP:0001672
def: "Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy." [HPO:probinson]
synonym: "Symmetric, concentric, hypertrophic cardiomyopathy" EXACT []
xref: UMLS:C0238044
is_a: HP:0001639 ! Hypertrophic cardiomyopathy

[Term]
id: HP:0005160
name: Total anomalous pulmonary venous return
alt_id: HP:0005153
alt_id: HP:0005175
def: "Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium." [HPO:probinson]
comment: Pulmonary veins drain through abnormal connections to the right atrium.
synonym: "Total anomalous pulmonary venous connection" EXACT []
synonym: "Total anomalous pulmonary venous drainage" EXACT []
xref: Fyler:0900
xref: Fyler:900
xref: MSH:D012587
xref: SNOMEDCT_US:111323005
xref: SNOMEDCT_US:39905002
xref: UMLS:C0036400
is_a: HP:0010772 ! Anomalous pulmonary venous return

[Term]
id: HP:0005162
name: Left ventricular dysfunction
alt_id: HP:0005154
def: "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole." [http://www.heart.org/HEARTORG/Conditions/HeartFailure/AboutHeartFailure/Types-of-Heart-Failure_UCM_306323_Article.jsp#.WmeKyJM-dL4, PMID:10956313]
synonym: "Impaired left ventricular function" EXACT []
synonym: "Left ventricular failure" EXACT []
synonym: "Left ventricular impairment" EXACT []
synonym: "Left-sided heart failure" EXACT []
xref: MSH:D006333
xref: SNOMEDCT_US:275514001
xref: SNOMEDCT_US:85232009
xref: UMLS:C0023212
xref: UMLS:C0553982
is_a: HP:0030872 ! Abnormal cardiac ventricular function

[Term]
id: HP:0005164
name: Dysplastic pulmonary valve
def: "A congenital malformation of the pulmonary valve characterized by leaflet deformation." [PMID:7704986]
xref: UMLS:C1866206
is_a: HP:0001641 ! Abnormal pulmonary valve morphology

[Term]
id: HP:0005165
name: Shortened PR interval
def: "Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long." [HPO:probinson]
synonym: "Electrocardiographic short PR interval" EXACT []
synonym: "Short P-R interval" EXACT []
synonym: "Shortened PR interval on EKG" EXACT []
xref: SNOMEDCT_US:49578007
xref: UMLS:C0520878
is_a: HP:0031593 ! Abnormal PR interval

[Term]
id: HP:0005168
name: Elevated right atrial pressure
def: "An abnormal increase in magnitude of the pressure in the right atrium." [PMID:25211049]
comment: Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization.
xref: UMLS:C1867421
is_a: HP:0025443 ! Abnormal cardiac atrial physiology

[Term]
id: HP:0005170
name: Complete heart block with broad QRS complexes
def: "A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex." []
xref: UMLS:C1861987
is_a: HP:0001709 ! Third degree atrioventricular block

[Term]
id: HP:0005172
name: Left posterior fascicular block
def: "Conduction block in the posterior division of the left bundle branch of the bundle of His." [HPO:probinson]
synonym: "Left posterior hemiblock" EXACT []
xref: SNOMEDCT_US:62026008
xref: UMLS:C0264913
is_a: HP:0011713 ! Left bundle branch block

[Term]
id: HP:0005173
name: obsolete Calcific aortic valve stenosis
is_obsolete: true
replaced_by: HP:0004380

[Term]
id: HP:0005174
name: Membranous subvalvular aortic stenosis
def: "Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency." [HPO:probinson, pmid:5817839]
comment: An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter.
xref: UMLS:C1848978
is_a: HP:0001682 ! Subvalvular aortic stenosis

[Term]
id: HP:0005176
name: Dysplastic aortic valve
def: "A congenital malformation of the aortic valve characterized by leaflet deformation." [PMID:21349746]
xref: UMLS:C1866207
is_a: HP:0001646 ! Abnormal aortic valve morphology

[Term]
id: HP:0005177
name: Premature arteriosclerosis
def: "Arteriosclerosis occurring at an age that is younger than usual." [HPO:probinson]
synonym: "Premature hardening of arteries" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1848486
xref: UMLS:C4280503
is_a: HP:0002634 ! Arteriosclerosis

[Term]
id: HP:0005178
name: Complete heart block with narrow QRS complexes
def: "A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex." []
xref: UMLS:C1841661
is_a: HP:0001709 ! Third degree atrioventricular block

[Term]
id: HP:0005180
name: Tricuspid regurgitation
alt_id: HP:0004753
def: "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [HPO:probinson]
comment: This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316).
synonym: "Tricuspid insufficiency" EXACT []
synonym: "Tricuspid valve regurgitation" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:1161
xref: MSH:D014262
xref: SNOMEDCT_US:111287006
xref: UMLS:C0040961
is_a: HP:0031651 ! Abnormal tricuspid valve physiology

[Term]
id: HP:0005181
name: Premature coronary artery atherosclerosis
def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45." [PMID:28070240]
synonym: "Premature coronary artery disease" EXACT layperson []
xref: UMLS:C1867743
is_a: HP:0001677 ! Coronary artery atherosclerosis

[Term]
id: HP:0005182
name: Bicuspid pulmonary valve
def: "The presence of a bicuspid pulmonary valve." [HPO:probinson]
comment: The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid.
xref: Fyler:1601
xref: SNOMEDCT_US:253599005
xref: UMLS:C0344987
is_a: HP:0031566 ! Abnormal pulmonary valve cusp morphology

[Term]
id: HP:0005183
name: Pericardial lymphangiectasia
def: "An abnormal dilatation of lymph vessels in the pericardium." [PMID:18391124]
xref: UMLS:C1856140
is_a: HP:0001697 ! Abnormal pericardium morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0005184
name: Prolonged QTc interval
def: "A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations." [PMID:24097136]
xref: UMLS:C1560305
is_a: HP:0001657 ! Prolonged QT interval

[Term]
id: HP:0005185
name: Global systolic dysfunction
def: "A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly." [PMID:24173273, PMID:7713107]
xref: UMLS:C1847397
is_a: HP:0006673 ! Reduced systolic function

[Term]
id: HP:0005186
name: Synovial hypertrophy
xref: MSH:D013585
xref: SNOMEDCT_US:240206002
xref: UMLS:C0410574
is_a: HP:0005262 ! Abnormality of the synovia

[Term]
id: HP:0005187
name: Progressive joint destruction
xref: UMLS:C4025243
is_a: HP:0001367 ! Abnormal joint morphology

[Term]
id: HP:0005190
name: Proximal finger joint hyperextensibility
xref: UMLS:C4025242
is_a: HP:0001187 ! Hyperextensibility of the finger joints

[Term]
id: HP:0005191
name: Congenital knee dislocation
synonym: "Dislocated knee since birth" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:59068006
xref: UMLS:C0265669
is_a: HP:0004976 ! Knee dislocation

[Term]
id: HP:0005193
name: Restricted large joint movement
xref: UMLS:C4025241
is_a: HP:0001376 ! Limitation of joint mobility

[Term]
id: HP:0005194
name: Flattened metatarsal heads
def: "Abnormally flat shape of the heads of the metatarsal bones." [HPO:probinson]
comment: The metatarsal heads articulate with the proximal phalanges of the toes.
synonym: "Flattened head of long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025240
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0005195
name: Polyarticular arthropathy
xref: UMLS:C4025239
is_a: HP:0003040 ! Arthropathy

[Term]
id: HP:0005197
name: Generalized morning stiffness
def: "A sensation of stiffness in the joints that occurs following waking up in the morning." [HPO:curators]
xref: UMLS:C4025238
is_a: HP:0001387 ! Joint stiffness

[Term]
id: HP:0005198
name: Stiff interphalangeal joints
def: "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity." [HPO:curators]
synonym: "Stiff hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025237
is_a: HP:0001387 ! Joint stiffness
is_a: HP:0005262 ! Abnormality of the synovia

[Term]
id: HP:0005199
name: Aplasia of the abdominal wall musculature
def: "Absence of the abdominal musculature." [HPO:probinson]
synonym: "Absent abdominal musculature" EXACT []
xref: UMLS:C3149223
is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature

[Term]
id: HP:0005200
name: Retroperitoneal fibrosis
xref: MSH:D012185
xref: SNOMEDCT_US:49120005
xref: UMLS:C0035357
is_a: HP:0002585 ! Abnormality of the peritoneum

[Term]
id: HP:0005201
name: Anomalous splenoportal venous system
xref: UMLS:C4025236
is_a: HP:0031941 ! Abnormal portal venous system morphology

[Term]
id: HP:0005202
name: Helicobacter pylori infection
def: "A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach." [PMID:23652324]
comment: The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts.
xref: UMLS:C0850666
is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract

[Term]
id: HP:0005203
name: Spontaneous esophageal perforation
alt_id: HP:0005251
def: "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus." [HPO:probinson]
comment: Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis.
synonym: "Boerhaave syndrome" RELATED []
synonym: "Spontaneous esophageal rupture" EXACT []
xref: MSH:C536571
xref: SNOMEDCT_US:19995004
xref: UMLS:C0238115
is_a: HP:0002031 ! Abnormal esophagus morphology

[Term]
id: HP:0005206
name: Pancreatic pseudocyst
def: "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis." [HPO:probinson]
xref: MSH:D010192
xref: SNOMEDCT_US:111374002
xref: UMLS:C0030299
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0005207
name: Gastric hypertrophy
def: "Hypertrophy of the stomach." [HPO:probinson]
synonym: "Increased stomach size" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834341
xref: UMLS:C4280502
is_a: HP:0002577 ! Abnormality of the stomach

[Term]
id: HP:0005208
name: Secretory diarrhea
def: "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." [HPO:probinson]
xref: SNOMEDCT_US:15699003
xref: UMLS:C0267557
is_a: HP:0002014 ! Diarrhea

[Term]
id: HP:0005209
name: Intrahepatic bile duct cysts
def: "The presence of cyst of the intrahepatic bile duct." [HPO:probinson]
xref: SNOMEDCT_US:235925007
xref: UMLS:C0400991
is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct

[Term]
id: HP:0005210
name: Hypoplastic colon
def: "Underdevelopment of the colon." [HPO:probinson]
synonym: "Hypoplasia of the colon" EXACT []
synonym: "Underdeveloped colon" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1392839
is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon

[Term]
id: HP:0005211
name: Midgut malrotation
xref: UMLS:C1849706
is_a: HP:0002566 ! Intestinal malrotation

[Term]
id: HP:0005212
name: Anal mucosal leukoplakia
def: "Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation." [HPO:probinson, pmid:13316552]
xref: UMLS:C1844632
is_a: HP:0004378 ! Abnormality of the anus

[Term]
id: HP:0005213
name: Pancreatic calcification
def: "The presence of abnormal calcium deposition lesions in the pancreas." [HPO:probinson]
synonym: "Pancreatic calcifications" EXACT []
xref: UMLS:C1842406
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0005214
name: Intestinal obstruction
alt_id: HP:0005239
def: "Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal." [HPO:probinson]
synonym: "Bowel obstruction" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Intestinal blockage" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Intestinal obstruction" EXACT layperson []
xref: MSH:D007415
xref: SNOMEDCT_US:81060008
xref: UMLS:C0021843
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0004796 ! Gastrointestinal obstruction

[Term]
id: HP:0005215
name: Frequent Giardia lamblia infestation
def: "Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection." [HPO:probinson]
xref: UMLS:C4025235
is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract

[Term]
id: HP:0005216
name: Impaired mastication
def: "An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing." [PMID:23713640]
comment: Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia.
synonym: "Chewing difficulties" EXACT layperson []
synonym: "Chewing difficulty" EXACT layperson []
synonym: "Difficulty chewing" EXACT layperson []
xref: SNOMEDCT_US:162020001
xref: UMLS:C0239043
is_a: HP:0031815 ! Abnormal oral physiology

[Term]
id: HP:0005217
name: Duplication of internal organs
xref: UMLS:C4025234
is_a: HP:0001438 ! Abnormality of abdomen morphology

[Term]
id: HP:0005218
name: Anoperineal fistula
def: "The presence of a fistula (abnormal tunnel) between the anal canal and the perineum." [HPO:probinson]
xref: UMLS:C1835798
is_a: HP:0004871 ! Perineal fistula
is_a: HP:0010447 ! Anal fistula

[Term]
id: HP:0005219
name: Absence of intrinsic factor
def: "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12." [HPO:probinson]
comment: This feature can be ascertained by immunoassay of gastric juices.
synonym: "Intrinsic factor absent from gastric juice" EXACT []
xref: UMLS:C4021641
is_a: HP:0002577 ! Abnormality of the stomach

[Term]
id: HP:0005220
name: Multiple intestinal neurofibromatosis
xref: UMLS:C4025233
is_a: HP:0001067 ! Neurofibromas
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0005222
name: Bowel diverticulosis
def: "The presence of multiple diverticula of the intestine." [HPO:probinson]
synonym: "Bowel diverticula" RELATED []
xref: UMLS:C1394691
xref: UMLS:C1395674
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0005223
name: Duplicated colon
xref: UMLS:C1850328
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0100668 ! Intestinal duplication

[Term]
id: HP:0005224
name: Rectal abscess
alt_id: HP:0002567
def: "A collection of pus in the area of the rectum." [HPO:probinson]
synonym: "Perirectal abscess" EXACT []
xref: SNOMEDCT_US:197166005
xref: SNOMEDCT_US:91669008
xref: UMLS:C0149770
xref: UMLS:C0267566
is_a: HP:0002034 ! Abnormality of the rectum
is_a: HP:0025615 ! Abscess

[Term]
id: HP:0005225
name: Intestinal edema
def: "Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds." [HPO:6045396, HPO:probinson]
comment: This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram.
xref: UMLS:C1142262
is_a: HP:0000969 ! Edema
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0005227
name: Adenomatous colonic polyposis
alt_id: HP:0005226
def: "Presence of multiple adenomatous polyps in the colon." [HPO:probinson]
synonym: "Multiple adenomatous colon polyps" EXACT []
synonym: "Multiple colonic adenomatous polyps" EXACT []
xref: MEDDRA:10056981 "Adenomatous polyposis coli"
xref: UMLS:C1868071
is_a: HP:0030255 ! Large intestinal polyposis
is_a: HP:0100273 ! Neoplasm of the colon

[Term]
id: HP:0005229
name: Jejunoileal ulceration
xref: UMLS:C4025232
is_a: HP:0001549 ! Abnormal ileum morphology
is_a: HP:0005265 ! Abnormality of the jejunum

[Term]
id: HP:0005230
name: Biliary tract obstruction
def: "Obstruction affecting the biliary tree." [HPO:probinson]
xref: SNOMEDCT_US:235918000
xref: UMLS:C0400979
is_a: HP:0012440 ! Abnormal biliary tract morphology

[Term]
id: HP:0005231
name: Chronic gastritis
def: "A chronic form of gastritis." [HPO:probinson]
xref: SNOMEDCT_US:8493009
xref: UMLS:C0085695
is_a: HP:0005263 ! Gastritis

[Term]
id: HP:0005232
name: Pancreatic dysplasia
def: "The presence of developmental dysplasia of the pancreas." [HPO:probinson]
comment: Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture.
xref: UMLS:C4019084
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0005233
name: Hypoplasia of the gallbladder
def: "The presence of a hypoplastic gallbladder." [HPO:probinson]
synonym: "Hypoplastic gallbladder" EXACT []
xref: SNOMEDCT_US:93259002
xref: UMLS:C0345282
is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder

[Term]
id: HP:0005234
name: Neonatal intestinal obstruction
xref: UMLS:C0859974
is_a: HP:0005214 ! Intestinal obstruction

[Term]
id: HP:0005235
name: Jejunal atresia
alt_id: HP:0011101
def: "A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum." [HPO:probinson]
xref: MSH:D007409
xref: SNOMEDCT_US:204702007
xref: SNOMEDCT_US:360491009
xref: UMLS:C0266175
is_a: HP:0005265 ! Abnormality of the jejunum
is_a: HP:0011100 ! Intestinal atresia

[Term]
id: HP:0005236
name: Chronic calcifying pancreatitis
def: "A form of chronic pancreatitis that is characterized by calcification." [HPO:probinson]
xref: UMLS:C4025231
is_a: HP:0001733 ! Pancreatitis

[Term]
id: HP:0005237
name: Degenerative liver disease
def: "The presence of degenerative changes of the liver." [HPO:probinson]
xref: UMLS:C4025230
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0005238
name: Discrete intestinal polyps
xref: UMLS:C4025229
is_a: HP:0200008 ! Intestinal polyposis

[Term]
id: HP:0005240
name: Esophageal obstruction
xref: SNOMEDCT_US:405247003
xref: UMLS:C0239296
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0004796 ! Gastrointestinal obstruction

[Term]
id: HP:0005241
name: Total intestinal aganglionosis
def: "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel." [HPO:probinson, pmid:596929]
xref: MSH:C538058
xref: SNOMEDCT_US:204745000
xref: UMLS:C0345240
is_a: HP:0004362 ! Abnormality of enteric ganglion morphology

[Term]
id: HP:0005242
name: Extrahepatic biliary duct atresia
alt_id: HP:0006553
def: "Atresia in the extrahepatic bile duct." [HPO:probinson]
synonym: "Biliary atresia, extrahepatic" EXACT []
xref: MSH:D001656
xref: SNOMEDCT_US:77480004
xref: SNOMEDCT_US:82821008
xref: UMLS:C0005411
is_a: HP:0005912 ! Biliary atresia

[Term]
id: HP:0005243
name: Partial abdominal muscle agenesis
def: "Failure to form of portions of the abdominal musculature." [HPO:probinson]
xref: UMLS:C4025228
is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature

[Term]
id: HP:0005244
name: Gastrointestinal infarctions
synonym: "Death of digestive organ tissue due to poor blood supply" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "GI infarctions" EXACT HP:0045077 []
xref: UMLS:C3152231
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0005245
name: Intestinal hypoplasia
def: "Developmental hypoplasia of the intestine." [HPO:probinson]
synonym: "Hypoplastic intestines" EXACT []
synonym: "Underdeveloped instestine" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021640
is_a: HP:0002242 ! Abnormal intestine morphology

[Term]
id: HP:0005246
name: Giant hypertrophic gastritis
def: "A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds." [HPO:probinson]
synonym: "Menetrier disease" RELATED []
xref: MSH:D005758
xref: SNOMEDCT_US:413219009
xref: SNOMEDCT_US:60002000
xref: UMLS:C0017155
is_a: HP:0005263 ! Gastritis

[Term]
id: HP:0005247
name: Hypoplasia of the abdominal wall musculature
def: "Underdevelopment of the abdominal musculature." [HPO:probinson]
synonym: "Abdominal muscular hypoplasia" EXACT []
xref: UMLS:C3279407
is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature

[Term]
id: HP:0005248
name: Intrahepatic biliary atresia
def: "Atresia in the intrahepatic bile duct." [HPO:probinson]
synonym: "Bile duct paucity" EXACT [https://orcid.org/0000-0001-5208-3432, PMID:6981794]
synonym: "Intrahepatic atresia of biliary duct" EXACT []
xref: UMLS:C1855284
is_a: HP:0005912 ! Biliary atresia
is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct

[Term]
id: HP:0005249
name: Functional intestinal obstruction
xref: UMLS:C3639956
is_a: HP:0004796 ! Gastrointestinal obstruction

[Term]
id: HP:0005250
name: High intestinal obstruction
xref: UMLS:C4025227
is_a: HP:0005214 ! Intestinal obstruction

[Term]
id: HP:0005253
name: Increased anterioposterior diameter of thorax
synonym: "Increased anterioposterior diameter of chest" EXACT []
xref: UMLS:C1848760
is_a: HP:0100625 ! Enlarged thorax

[Term]
id: HP:0005254
name: Unilateral chest hypoplasia
synonym: "Small chest on one side" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped chest on one side" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1845576
is_a: HP:0005257 ! Thoracic hypoplasia

[Term]
id: HP:0005255
name: Absence of pectoralis minor muscle
def: "Aplasia (congenital absence) of the pectoralis minor." [HPO:probinson]
synonym: "Pectoralis minor aplasia" EXACT []
xref: UMLS:C1868158
is_a: HP:0011957 ! Abnormal pectoral muscle morphology

[Term]
id: HP:0005256
name: Unilateral absence of pectoralis major muscle
def: "Aplasia (congenital absence) of the pectoralis minor on only one side of the chest." [HPO:probinson]
synonym: "Unilateral aplasia of pectoralis major muscle" EXACT []
xref: UMLS:C4021639
is_a: HP:0011957 ! Abnormal pectoral muscle morphology

[Term]
id: HP:0005257
name: Thoracic hypoplasia
alt_id: HP:0001590
synonym: "Small chest" EXACT layperson []
synonym: "Small thorax" EXACT layperson []
xref: UMLS:C1837482
is_a: HP:0000765 ! Abnormality of the thorax

[Term]
id: HP:0005258
name: Pectoral muscle hypoplasia/aplasia
synonym: "Small/absent pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped/absent pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025226
is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature

[Term]
id: HP:0005259
name: Abnormal facility in opposing the shoulders
xref: UMLS:C1861517
is_a: HP:0001547 ! Abnormality of the rib cage

[Term]
id: HP:0005261
name: Joint hemorrhage
alt_id: HP:0001391
alt_id: HP:0005196
def: "Hemorrhage occurring within a joint." [HPO:gcarletti]
synonym: "Bleeding within a joint" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hemarthroses" EXACT []
synonym: "Hemarthrosis" EXACT layperson []
synonym: "Joint haemorrhage" EXACT []
synonym: "Spontaneous joint hemorrhage" EXACT []
xref: MSH:D006395
xref: SNOMEDCT_US:81808003
xref: UMLS:C0018924
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0011029 ! Internal hemorrhage
created_by: peter
creation_date: 2008-03-26T04:27:00Z

[Term]
id: HP:0005262
name: Abnormality of the synovia
xref: UMLS:C4025225
is_a: HP:0001367 ! Abnormal joint morphology
created_by: peter
creation_date: 2008-03-26T04:27:00Z

[Term]
id: HP:0005263
name: Gastritis
def: "The presence of inflammation of the gastric mucous membrane." [HPO:probinson]
subset: hposlim_core
synonym: "Stomach inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MEDDRA:10017853 "Gastritis"
xref: MSH:D005756
xref: SNOMEDCT_US:4556007
xref: UMLS:C0017152
is_a: HP:0004295 ! Abnormality of the gastric mucosa
created_by: peter
creation_date: 2008-03-26T04:32:00Z

[Term]
id: HP:0005264
name: Abnormality of the gallbladder
def: "An abnormality of the gallbladder." [HPO:probinson]
synonym: "Abnormality of the gallbladder" EXACT layperson []
synonym: "Anomaly of the gallbladder" EXACT []
xref: SNOMEDCT_US:253803008
xref: SNOMEDCT_US:49714001
xref: UMLS:C0266249
is_a: HP:0004297 ! Abnormality of the biliary system
created_by: peter
creation_date: 2008-03-26T04:40:00Z

[Term]
id: HP:0005265
name: Abnormality of the jejunum
def: "An abnormality of the jejunum, i.e., of the middle section of the small intestine." [HPO:probinson]
xref: UMLS:C4025224
is_a: HP:0002244 ! Abnormality of the small intestine
created_by: peter
creation_date: 2008-03-26T04:44:00Z

[Term]
id: HP:0005266
name: Intestinal polyp
def: "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [HPO:probinson]
synonym: "Intestinal polyps" RELATED []
xref: MSH:D007417
xref: SNOMEDCT_US:254588001
xref: UMLS:C0021846
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
created_by: peter
creation_date: 2008-03-26T04:46:00Z

[Term]
id: HP:0005267
name: Premature delivery because of cervical insufficiency or membrane fragility
xref: UMLS:C1851808
is_a: HP:0001622 ! Premature birth

[Term]
id: HP:0005268
name: Spontaneous abortion
def: "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy." [HPO:probinson]
synonym: "Miscarriage" EXACT []
xref: MSH:D000022
xref: SNOMEDCT_US:17369002
xref: UMLS:C0000786
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0005272
name: Prominent nasolabial fold
def: "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)." [pmid:19125428]
subset: hposlim_core
synonym: "Deep laugh lines" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deep nasolabial crease" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deep nasolabial fold" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deep nasolabial groove" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deep smile lines" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasolabial crease, prominent" EXACT []
synonym: "Prominent laugh lines" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent nasolabial groove" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent smile lines" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1866487
is_a: HP:0005289 ! Abnormality of the nasolabial region

[Term]
id: HP:0005273
name: Absent nasal septal cartilage
def: "Lack of the cartilage of the nasal septum." [HPO:probinson]
subset: hposlim_core
synonym: "Absent nasal septal cartilage" EXACT layperson []
synonym: "Absent nasal septum" EXACT layperson []
synonym: "Ageneis of nasal septal cartilage" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of nasal septal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021638
xref: UMLS:C4280501
is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum
is_a: HP:3000034 ! Abnormality of cartilage of nasal septum

[Term]
id: HP:0005274
name: Prominent nasal tip
synonym: "Bulbous tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of nasal tip" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of tip of nose" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of nasal tip" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of tip of nose" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Large nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent nasal tip" EXACT layperson []
synonym: "Prominent tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Pronounced nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Pronounced tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856118
xref: UMLS:C4280498
xref: UMLS:C4280499
xref: UMLS:C4280500
is_a: HP:0000436 ! Abnormality of the nasal tip

[Term]
id: HP:0005275
name: Cartilaginous ossification of nose
synonym: "Cartilaginous nasal ossification" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855616
is_a: HP:0000429 ! Abnormality of the nasal alae

[Term]
id: HP:0005278
name: Hypoplastic nasal tip
synonym: "Aplasia of nasal tip" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deficient nasal tip" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of tip of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic nasal tip" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic tip of nose" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1844731
xref: UMLS:C4280496
xref: UMLS:C4280497
is_a: HP:0000436 ! Abnormality of the nasal tip

[Term]
id: HP:0005280
name: Depressed nasal bridge
alt_id: HP:0000425
alt_id: HP:0000428
alt_id: HP:0000439
alt_id: HP:0000459
alt_id: HP:0004413
alt_id: HP:0004505
alt_id: HP:0004506
alt_id: HP:0004666
alt_id: HP:0005119
alt_id: HP:0005284
def: "Posterior positioning of the nasal root in relation to the overall facial profile for age." [pmid:19152422]
comment: The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background.
subset: hposlim_core
synonym: "Concave bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Concave nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Depressed bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Depressed nasal bridge" EXACT layperson []
synonym: "Depressed nasal root" EXACT []
synonym: "Depressed nasal root/bridge" RELATED [HPO:skoehler]
synonym: "Flat bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flat nasal bridge" EXACT layperson []
synonym: "Flat nasal root" EXACT []
synonym: "Flat, nasal bridge" EXACT layperson []
synonym: "Flattened nasal bridge" EXACT layperson []
synonym: "Low nasal bridge" EXACT layperson []
synonym: "Low nasal root" EXACT layperson [HPO:skoehler]
synonym: "Retruded bridge of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Retruded nasal bridge" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1836542
xref: UMLS:C3550546
xref: UMLS:C4280495
is_a: HP:0000422 ! Abnormality of the nasal bridge

[Term]
id: HP:0005281
name: Hypoplastic nasal bridge
synonym: "Decreased size of bridge of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic bridge of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic bridge of nose" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic nasal bridge" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1865597
xref: UMLS:C4280494
is_a: HP:0000422 ! Abnormality of the nasal bridge

[Term]
id: HP:0005285
name: Absent nasal bridge
synonym: "Absent bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Absent nasal bridge" EXACT layperson []
synonym: "Agenesis of bridge of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of nasal bridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1837888
is_a: HP:0000422 ! Abnormality of the nasal bridge

[Term]
id: HP:0005288
name: Abnormality of the nares
def: "Abnormality of the nostril." [HPO:curators]
subset: hposlim_core
synonym: "Abnormality of the nostrils" EXACT layperson []
synonym: "Anomaly of the nares" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nares" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nostrils" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nares" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nostrils" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021637
is_a: HP:0000366 ! Abnormality of the nose
created_by: peter
creation_date: 2008-03-26T06:04:00Z

[Term]
id: HP:0005289
name: Abnormality of the nasolabial region
synonym: "Anomaly of the nasolabial region" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasolabial region" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasolabial region" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025223
is_a: HP:0000366 ! Abnormality of the nose
created_by: peter
creation_date: 2008-03-26T06:07:00Z

[Term]
id: HP:0005290
name: Internal carotid artery hypoplasia
synonym: "Aplasia of internal carotid artery" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of internal carotid artery" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of internal carotid artery" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic internal carotid artery" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small internal carotid artery" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855736
xref: UMLS:C4280491
xref: UMLS:C4280492
xref: UMLS:C4280493
is_a: HP:3000062 ! Abnormal internal carotid artery morphology

[Term]
id: HP:0005291
name: Inflammatory arteriopathy
xref: UMLS:C4025222
is_a: HP:0002633 ! Vasculitis

[Term]
id: HP:0005292
name: Intimal thickening in the coronary arteries
xref: UMLS:C1968633
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0005293
name: Venous insufficiency
synonym: "Poorly functioning veins" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D014689
xref: SNOMEDCT_US:20696009
xref: UMLS:C0042485
is_a: HP:0002624 ! Abnormal venous morphology

[Term]
id: HP:0005294
name: Arterial dissection
def: "A separation (dissection) of the layers of an artery." [HPO:probinson]
xref: MSH:D000784
xref: SNOMEDCT_US:233992003
xref: SNOMEDCT_US:26845001
xref: SNOMEDCT_US:710864009
xref: SNOMEDCT_US:9406001
xref: UMLS:C0002949
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0005295
name: Pseudocoarctation of the aorta
def: "Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum." [HPO:probinson, pmid:17593995, pmid:18651460]
comment: Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch.
xref: SNOMEDCT_US:70602002
xref: UMLS:C0345088
is_a: HP:0012303 ! Abnormal aortic arch morphology

[Term]
id: HP:0005296
name: obsolete Occlusive vascular disease
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005297
name: Premature occlusive vascular stenosis
def: "Peripheral arterial stenosis with onset before the age of 50 years." []
xref: UMLS:C1867457
is_a: HP:0004950 ! Peripheral arterial stenosis

[Term]
id: HP:0005298
name: obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia
is_obsolete: true
replaced_by: HP:0006695

[Term]
id: HP:0005299
name: obsolete Premature peripheral vascular disease
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005300
name: Nodular inflammatory vasculitis
xref: UMLS:C4025219
is_a: HP:0002633 ! Vasculitis

[Term]
id: HP:0005301
name: Persistent left superior vena cava
def: "A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress." [PMID:18847480]
synonym: "PLSVC" EXACT HP:0045077 []
xref: SNOMEDCT_US:77978002
xref: UMLS:C0265931
is_a: HP:0025575 ! Abnormal superior vena cava morphology

[Term]
id: HP:0005302
name: Carotid artery tortuosity
def: "Abnormal tortuous (i.e., twisted) form of the carotid arteries." [HPO:probinson]
synonym: "Tortuous carotid arteries" EXACT []
xref: SNOMEDCT_US:401051003
xref: UMLS:C1303076
is_a: HP:0005116 ! Arterial tortuosity
is_a: HP:0005344 ! Abnormal carotid artery morphology

[Term]
id: HP:0005303
name: Aortic arch calcification
def: "Calcification, that is, pathological deposition of calcium salts in the arch of aorta." [HPO:probinson]
xref: UMLS:C1969291
is_a: HP:0004962 ! Thoracic aorta calcification

[Term]
id: HP:0005304
name: Hypoplastic pulmonary veins
synonym: "Underdeveloped lung veins" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1970501
is_a: HP:0030968 ! Abnormal pulmonary vein morphology

[Term]
id: HP:0005305
name: Cerebral venous thrombosis
def: "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [HPO:probinson]
synonym: "Blood clot in cerebral vein" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Cerebral thrombosis" EXACT []
synonym: "Cerebral vein thrombosis" EXACT []
xref: SNOMEDCT_US:95455008
xref: UMLS:C0151945
is_a: HP:0004936 ! Venous thrombosis

[Term]
id: HP:0005306
name: Capillary hemangioma
def: "The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces." [HPO:probinson]
subset: hposlim_core
synonym: "Capillary hemangioma" EXACT []
synonym: "Strawberry birthmark" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D018324
xref: SNOMEDCT_US:195382003
xref: SNOMEDCT_US:254206003
xref: SNOMEDCT_US:402867006
xref: SNOMEDCT_US:56975005
xref: SNOMEDCT_US:83343001
xref: UMLS:C0206733
is_a: HP:0001028 ! Hemangioma

[Term]
id: HP:0005307
name: Postural hypotension with compensatory tachycardia
xref: UMLS:C1850438
is_a: HP:0001278 ! Orthostatic hypotension

[Term]
id: HP:0005308
name: Pulmonary artery vasoconstriction
xref: UMLS:C1867424
is_a: HP:0030967 ! Abnormal pulmonary artery physiology

[Term]
id: HP:0005309
name: obsolete Peripheral vascular insufficiency
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005310
name: Large vessel vasculitis
def: "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta." [HPO:probinson, pmid:16088500]
xref: UMLS:C4025218
is_a: HP:0002633 ! Vasculitis

[Term]
id: HP:0005311
name: Agenesis of pulmonary vessels
synonym: "Absent lung vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1970630
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature

[Term]
id: HP:0005312
name: Pulmonary aterial intimal fibrosis
def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation." [HPO:probinson]
comment: Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome.
xref: UMLS:C4025217
is_a: HP:0030966 ! Abnormal pulmonary artery morphology

[Term]
id: HP:0005313
name: Arterial fibromuscular dysplasia
def: "An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer." [PMID:27939641]
comment: Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus.
xref: MSH:D005352
xref: SNOMEDCT_US:31653004
xref: SNOMEDCT_US:359553002
xref: UMLS:C0016052
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0005314
name: Anomalous branches of internal carotid artery
xref: UMLS:C1847886
is_a: HP:0005344 ! Abnormal carotid artery morphology

[Term]
id: HP:0005315
name: obsolete Peripheral artery occlusive disease
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005316
name: Peripheral pulmonary vessel aplasia
xref: UMLS:C1848877
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature

[Term]
id: HP:0005317
name: Increased pulmonary vascular resistance
comment: Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.
xref: UMLS:C1867423
is_a: HP:0030875 ! Abnormality of pulmonary circulation

[Term]
id: HP:0005318
name: Cerebral vasculitis
def: "Inflammation of the blood vessels within the brain." [HPO:probinson]
xref: MSH:D020293
xref: SNOMEDCT_US:427020007
xref: UMLS:C0238051
is_a: HP:0002633 ! Vasculitis
is_a: HP:0100659 ! Abnormality of the cerebral vasculature

[Term]
id: HP:0005320
name: Lack of facial subcutaneous fat
synonym: "Lack of facial fat below the skin" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C3277426
is_a: HP:0003717 ! Minimal subcutaneous fat

[Term]
id: HP:0005321
name: Mandibulofacial dysostosis
def: "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations." [HPO:probinson]
synonym: "Treacher collins syndrome" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D008342
xref: SNOMEDCT_US:82203000
xref: UMLS:C0242387
is_a: HP:0004439 ! Craniofacial dysostosis

[Term]
id: HP:0005322
name: Prominent nasal septum
synonym: "Low hanging nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Low hanging septum of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent nasal septum" EXACT layperson []
synonym: "Prominent septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Visible nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Visible septum of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025216
xref: UMLS:C4280489
xref: UMLS:C4280490
is_a: HP:0000419 ! Abnormality of the nasal septum

[Term]
id: HP:0005323
name: Hemifacial hypertrophy
def: "Unilateral overgrowth of facial tissues, including muscles, bones and skin." [HPO:probinson]
subset: hposlim_core
synonym: "Enlargement of half of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial hemihyperplasia" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Facial hemihypertophy" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Friedreich's disease" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hemifacial enlargement" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of half of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increase in size of half of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of half of face" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C563014
xref: MSH:D005621
xref: SNOMEDCT_US:10394003
xref: SNOMEDCT_US:697962004
xref: UMLS:C0016719
xref: UMLS:C1399354
is_a: HP:0000324 ! Facial asymmetry

[Term]
id: HP:0005324
name: Disturbance of facial expression
def: "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed." [DDD:cwright]
synonym: "Disturbance of facial expression" EXACT layperson []
xref: UMLS:C4025215
is_a: HP:0005346 ! Abnormal facial expression

[Term]
id: HP:0005325
name: Extension of hair growth on temples to lateral eyebrow
def: "A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows." [HPO:probinson]
synonym: "Unusual hairline with hair growth on temples extending to lateral eyebrow" EXACT []
xref: UMLS:C1857455
is_a: HP:0000599 ! Abnormality of the frontal hairline

[Term]
id: HP:0005326
name: Hypoplastic philtrum
alt_id: HP:0005331
def: "Underdevelopment of the philtrum." [HPO:probinson]
synonym: "Small philtrum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856886
is_a: HP:0000288 ! Abnormality of the philtrum

[Term]
id: HP:0005327
name: Loss of facial expression
synonym: "Loss of facial expression" EXACT layperson []
xref: UMLS:C1852476
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0005328
name: Progeroid facial appearance
alt_id: HP:0000335
alt_id: HP:0005333
def: "A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance." [HPO:probinson]
synonym: "Aged facial appearance" EXACT []
synonym: "Premature aged appearance" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Prematurely aged face" EXACT []
synonym: "Prematurely aged facial appearance" EXACT []
synonym: "Wizened face" EXACT []
xref: UMLS:C1857710
is_a: HP:0007495 ! Prematurely aged appearance

[Term]
id: HP:0005329
name: Fixed facial expression
synonym: "Fixed facial expression" EXACT layperson []
synonym: "Unchanging facial expression" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855353
is_a: HP:0004673 ! Decreased facial expression

[Term]
id: HP:0005332
name: Recurrent mandibular subluxations
def: "Recurrent partial dislocations of the mandible." [HPO:curators]
xref: UMLS:C1857011
is_a: HP:0000277 ! Abnormality of the mandible
is_a: HP:0032153 ! Joint subluxation

[Term]
id: HP:0005335
name: Sleepy facial expression
synonym: "Sleepy facial expression" EXACT layperson []
synonym: "Somnolent facial expression" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025214
is_a: HP:0005324 ! Disturbance of facial expression

[Term]
id: HP:0005336
name: Forehead hyperpigmentation
synonym: "Darkening of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1969673
is_a: HP:0000290 ! Abnormality of the forehead
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0005338
name: Sparse lateral eyebrow
alt_id: HP:0004521
alt_id: HP:0009923
def: "Decreased density/number and/or decreased diameter of lateral eyebrow hairs." [HPO:probinson]
comment: Abnormal sparseness of the eyebrows laterally.
subset: hposlim_core
synonym: "Lateral hypoplasia of eyebrows" EXACT []
synonym: "Lateral thinning of eyebrows" EXACT []
synonym: "Laterally sparse eyebrow" EXACT []
synonym: "Laterally sparse eyebrows" EXACT [HPO:skoehler]
synonym: "Limited hair on end of eyebrow" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Sparse lateral eyebrows" RELATED [HPO:skoehler]
xref: UMLS:C1857206
is_a: HP:0045075 ! Sparse eyebrow

[Term]
id: HP:0005339
name: Abnormality of complement system
alt_id: HP:0025541
def: "An abnormality of the complement system." [HPO:probinson, pmid:19388161]
comment: The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system.
xref: UMLS:C4025213
is_a: HP:0005368 ! Abnormality of humoral immunity
created_by: peter
creation_date: 2008-03-26T07:58:00Z

[Term]
id: HP:0005340
name: Spastic/hyperactive bladder
xref: UMLS:C1836904
is_a: HP:0000009 ! Functional abnormality of the bladder

[Term]
id: HP:0005341
name: Autonomic bladder dysfunction
def: "Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system." [HPO:probinson]
xref: UMLS:C4025212
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology

[Term]
id: HP:0005343
name: Hypoplasia of the bladder
alt_id: HP:0005342
def: "Underdevelopment of the urinary bladder." [HPO:probinson]
synonym: "Hypoplastic bladder" EXACT []
synonym: "Underdeveloped bladder" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1855335
is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder

[Term]
id: HP:0005344
name: Abnormal carotid artery morphology
def: "Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches." []
synonym: "Abnormality of the carotid arteries" EXACT []
xref: UMLS:C4025211
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: peter
creation_date: 2008-03-26T06:37:00Z

[Term]
id: HP:0005345
name: Abnormal vena cava morphology
alt_id: HP:0030971
def: "An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava." []
synonym: "Abnormality of the vena cava" RELATED []
xref: UMLS:C4025210
is_a: HP:0002624 ! Abnormal venous morphology
is_a: HP:0030962 ! Abnormal morphology of the great vessels
created_by: peter
creation_date: 2008-03-26T06:40:00Z

[Term]
id: HP:0005346
name: Abnormal facial expression
synonym: "Abnormal facial expression" EXACT layperson []
xref: UMLS:C4025209
is_a: HP:0000271 ! Abnormality of the face
created_by: peter
creation_date: 2008-03-26T06:44:00Z

[Term]
id: HP:0005347
name: Cartilaginous trachea
xref: UMLS:C1863363
is_a: HP:0002778 ! Abnormal trachea morphology

[Term]
id: HP:0005348
name: Inspiratory stridor
def: "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [HPO:curators]
xref: SNOMEDCT_US:58596002
xref: UMLS:C0677600
is_a: HP:0010307 ! Stridor

[Term]
id: HP:0005349
name: Hypoplasia of the epiglottis
alt_id: HP:0008746
def: "Hypoplasia of the epiglottis." [HPO:probinson]
synonym: "Hypoplastic epiglottis" EXACT []
xref: UMLS:C1396772
is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis

[Term]
id: HP:0005352
name: Severe T-cell immunodeficiency
def: "A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms." [PMID:18755723]
comment: Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS).
synonym: "Severe T-cell immunodeficiency" EXACT layperson []
xref: UMLS:C4025208
is_a: HP:0005374 ! Cellular immunodeficiency

[Term]
id: HP:0005353
name: Recurrent herpes
def: "Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus." []
synonym: "Susceptibility to herpesvirus" EXACT layperson []
xref: UMLS:C4025207
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0005354
name: Lack of T cell function
def: "Complete inability of T cells to perform their functions in cell-mediated immunity." []
synonym: "Absent cellular immunity" EXACT []
xref: UMLS:C1849426
is_a: HP:0011840 ! Abnormality of T cell physiology

[Term]
id: HP:0005356
name: Decreased serum complement factor I
def: "A reduced level of the complement component Factor I in circulation." [https://emedicine.medscape.com/article/135478-overview]
xref: UMLS:C1970257
is_a: HP:0004431 ! Complement deficiency

[Term]
id: HP:0005357
name: Defective B cell differentiation
def: "Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity." [GO:0030183]
xref: UMLS:C1859624
is_a: HP:0005384 ! Defective B cell activation

[Term]
id: HP:0005359
name: Aplasia of the thymus
def: "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination." [HPO:probinson]
synonym: "Absent thymic shadow" RELATED []
synonym: "Absent thymus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Athymia" EXACT []
synonym: "Lack of thymic shadow" RELATED []
xref: MSH:C536288
xref: SNOMEDCT_US:702623002
xref: SNOMEDCT_US:91918005
xref: UMLS:C0685894
is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus

[Term]
id: HP:0005360
name: Susceptibility to chickenpox
def: "Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox." []
xref: UMLS:C1855205
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0005363
name: Humoral immunodeficiency
def: "A general term referring to a defect in immunity resulting from impaired antibody production." []
comment: If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency.
xref: UMLS:C4025206
is_a: HP:0002721 ! Immunodeficiency

[Term]
id: HP:0005364
name: obsolete Severe viral infections
is_obsolete: true
replaced_by: HP:0004429

[Term]
id: HP:0005365
name: Severe B lymphocytopenia
alt_id: HP:0002856
def: "A severe form of B lymphocytopenia in which the count of B cells is very low or absent." [HPO:probinson]
synonym: "Absence of B cells" RELATED []
synonym: "Absent B cells" EXACT []
xref: UMLS:C1863715
xref: UMLS:C4020824
is_a: HP:0010976 ! B lymphocytopenia

[Term]
id: HP:0005366
name: Recurrent streptococcus pneumoniae infections
def: "Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae." [HPO:probinson]
xref: UMLS:C2169794
is_a: HP:0002205 ! Recurrent respiratory infections
is_a: HP:0020096 ! Recurrent streptococcal infections

[Term]
id: HP:0005368
name: Abnormality of humoral immunity
def: "An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system." [HPO:probinson]
synonym: "Defective humoral immunity" EXACT []
xref: UMLS:C3150510
is_a: HP:0010978 ! Abnormality of immune system physiology

[Term]
id: HP:0005369
name: Decreased serum complement factor H
def: "A reduced level of the complement component Factor H in circulation." [https://emedicine.medscape.com/article/135478-overview]
xref: UMLS:C1969222
is_a: HP:0004431 ! Complement deficiency

[Term]
id: HP:0005372
name: Abnormality of B cell physiology
alt_id: HP:0005398
def: "An abnormality of the physiological functioning of B cells." [HPO:probinson]
comment: This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells.
synonym: "Abnormality of B cell physiology" EXACT layperson []
synonym: "Reduced B cell function" EXACT layperson []
xref: UMLS:C1849242
is_a: HP:0031409 ! Abnormal lymphocyte physiology

[Term]
id: HP:0005374
name: Cellular immunodeficiency
alt_id: HP:0005375
def: "An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity." [http://www.dictionary.com/browse/cellular-immunodeficiency]
xref: UMLS:C1855204
is_a: HP:0002721 ! Immunodeficiency

[Term]
id: HP:0005375
name: obsolete Partial cellular immunodeficiency
is_obsolete: true
replaced_by: HP:0005374

[Term]
id: HP:0005376
name: Recurrent Haemophilus influenzae infections
def: "Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae." [HPO:probinson]
xref: UMLS:C4025204
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0005379
name: obsolete Severe T lymphocytopenia
is_obsolete: true
consider: HP:0005403

[Term]
id: HP:0005381
name: Recurrent meningococcal disease
alt_id: HP:0005414
def: "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [HPO:curators]
synonym: "Increased susceptibility to neisseria meningitidis infections" EXACT layperson []
xref: UMLS:C1970263
is_a: HP:0005430 ! Recurrent Neisserial infections

[Term]
id: HP:0005384
name: Defective B cell activation
def: "A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of" [GOC:mgi_curators, ISBN:0781735140]
xref: UMLS:C1846551
is_a: HP:0005372 ! Abnormality of B cell physiology

[Term]
id: HP:0005386
name: Recurrent protozoan infections
def: "Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection." [HPO:probinson]
xref: UMLS:C4025202
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0005387
name: Combined immunodeficiency
def: "A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications." [PMID:23321211]
xref: UMLS:C0494261
is_a: HP:0002721 ! Immunodeficiency

[Term]
id: HP:0005389
name: Depletion of components of the alternative complement pathway
def: "An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products." [https://en.wikipedia.org/wiki/Alternative_complement_pathway]
xref: UMLS:C1969220
is_a: HP:0005482 ! Abnormality of the alternative complement pathway

[Term]
id: HP:0005390
name: Recurrent opportunistic infections
alt_id: HP:0005426
def: "Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system." [HPO:probinson]
synonym: "Frequent opportunistic infections" EXACT []
xref: UMLS:C1832324
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0031690 ! Opportunistic infection

[Term]
id: HP:0005396
name: Susceptibility to coronavirus 229e
def: "Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e." []
xref: UMLS:C1852539
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0005397
name: obsolete Exaggerated cellular immune processes
is_obsolete: true
consider: HP:0011840

[Term]
id: HP:0005400
name: Reduction of neutrophil motility
def: "An abnormal reduction of the cell motility of neutrophils." [HPO:probinson]
xref: UMLS:C4025201
is_a: HP:0011990 ! Abnormality of neutrophil physiology

[Term]
id: HP:0005401
name: Recurrent candida infections
def: "An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections." [HPO:probinson]
synonym: "Frequent candida infections" EXACT []
xref: UMLS:C1860128
is_a: HP:0002841 ! Recurrent fungal infections

[Term]
id: HP:0005402
name: obsolete Primary T-lymphocyte immune abnormalities
is_obsolete: true
replaced_by: HP:0011840

[Term]
id: HP:0005403
name: Decrease in T cell count
alt_id: HP:0005412
alt_id: HP:0045071
def: "An abnormally low count of T cells." [HPO:probinson]
synonym: "Decrease in T cell number" EXACT []
synonym: "Decreased numbers of circulating T cells" EXACT []
synonym: "Low T cell count" EXACT layperson []
synonym: "Reduced number of T cells" EXACT layperson []
synonym: "T lymphocytopenia" EXACT [HPO:skoehler]
xref: MSH:C536783
xref: UMLS:C2931322
is_a: HP:0001888 ! Lymphopenia

[Term]
id: HP:0005404
name: Increased B cell count
def: "An abnormal increase from the normal count of B cells." [HPO:probinson]
synonym: "Increase in B cell count" EXACT []
synonym: "Increase in B cell number" EXACT []
synonym: "Increased number of B cells" EXACT []
xref: UMLS:C1858972
is_a: HP:0010975 ! Abnormal B cell count
is_a: HP:0100827 ! Lymphocytosis

[Term]
id: HP:0005406
name: Recurrent bacterial skin infections
alt_id: HP:0000983
def: "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis." [HPO:probinson]
comment: Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection.
synonym: "Recurrent bacterial skin infections" EXACT layperson []
synonym: "Recurrent cutaneous pyogenic infections" EXACT []
synonym: "Recurrent episodes of impetigo" EXACT []
synonym: "Recurrent episodes of infectious dermatitis" EXACT []
synonym: "Recurrent pyogenic skin infections" EXACT []
xref: UMLS:C1835686
is_a: HP:0001581 ! Recurrent skin infections
is_a: HP:0002718 ! Recurrent bacterial infections

[Term]
id: HP:0005407
name: Decreased proportion of CD4-positive T cells
alt_id: HP:0005480
def: "A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count." [HPO:probinson]
synonym: "Abnormality of CD4+ T cells" EXACT []
synonym: "CD4 T cell lymphopenia" EXACT []
synonym: "CD4+ T-cell lymphopenia" EXACT []
xref: UMLS:C1839304
is_a: HP:0005403 ! Decrease in T cell count

[Term]
id: HP:0005409
name: obsolete Markedly reduced T cell function
is_obsolete: true
replaced_by: HP:0005435

[Term]
id: HP:0005411
name: Chronic intestinal candidiasis
def: "Persistent overgrowth of Candida albicans in the gastrointestinal tract." [HPO:probinson]
synonym: "Candida overgrowth syndrome" RELATED []
xref: UMLS:C4020823
xref: UMLS:C4025199
is_a: HP:0002728 ! Chronic mucocutaneous candidiasis

[Term]
id: HP:0005413
name: Increased alpha-globulin
def: "An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant." [PMID:15663032]
xref: SNOMEDCT_US:124022007
xref: UMLS:C1167806
is_a: HP:0032311 ! Increased circulating globulin level

[Term]
id: HP:0005415
name: Decreased proportion of CD8-positive T cells
alt_id: HP:0005481
def: "A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells." [HPO:probinson]
synonym: "CD8+ T-cell lymphopenia" EXACT []
synonym: "Decreased proportion of CD8+ T cells" EXACT []
xref: UMLS:C1839305
is_a: HP:0005403 ! Decrease in T cell count

[Term]
id: HP:0005416
name: Decreased serum complement factor B
def: "A reduced level of the complement component factor B in circulation." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum factor b" EXACT []
xref: UMLS:C4021636
is_a: HP:0004431 ! Complement deficiency

[Term]
id: HP:0005419
name: Decreased T cell activation
alt_id: HP:0005370
alt_id: HP:0005436
def: "Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [ISBN:0781735140]
synonym: "Decreased T lymphocyte activation" EXACT []
synonym: "Decreased T-cell activation" EXACT []
synonym: "Decreased T-lymphocyte activation" EXACT []
synonym: "Defective T cell activation" EXACT []
synonym: "Profound depletion of T4+ lymphocytes" EXACT []
xref: UMLS:C1846550
is_a: HP:0410035 ! Abnormal T cell activation

[Term]
id: HP:0005420
name: Recurrent gram-negative bacterial infections
alt_id: HP:0005395
def: "Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents." [HPO:probinson]
comment: Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane.
xref: UMLS:C4025198
is_a: HP:0002718 ! Recurrent bacterial infections

[Term]
id: HP:0005421
name: Decreased serum complement C3
alt_id: HP:0005408
def: "A reduced level of the complement component C3 in circulation." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum C3" EXACT []
synonym: "Decreased serum complement C3 level" EXACT []
xref: UMLS:C1837512
is_a: HP:0004431 ! Complement deficiency

[Term]
id: HP:0005422
name: Absence of CD8-positive T cells
def: "Lack of detectible CD8-positive T cells" []
synonym: "Absence of CD8+ T cells" EXACT []
xref: UMLS:C4025197
is_a: HP:0005415 ! Decreased proportion of CD8-positive T cells

[Term]
id: HP:0005423
name: Dysfunctional alternative complement pathway
def: "An abnormality of the functioning of any aspect of the alternative complement pathway." []
xref: UMLS:C1839458
is_a: HP:0005482 ! Abnormality of the alternative complement pathway

[Term]
id: HP:0005424
name: Absent specific antibody response
def: "Absence of specific immunoglobulins directed against a specific antigen or microorganism." [PMID:17100769]
xref: UMLS:C1863246
is_a: HP:0005372 ! Abnormality of B cell physiology

[Term]
id: HP:0005425
name: Recurrent sinopulmonary infections
def: "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections." [HPO:probinson]
synonym: "Chronic sinopulmonary infection" EXACT []
synonym: "Recurrent sinus and lung infections" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1846546
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0005428
name: Severe recurrent varicella
xref: MSH:C563458
xref: UMLS:C1833487
is_a: HP:0004429 ! Recurrent viral infections

[Term]
id: HP:0005429
name: Recurrent systemic pyogenic infections
def: "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections." [ORCID:0000-0001-7941-2961]
xref: UMLS:C4025196
is_a: HP:0002718 ! Recurrent bacterial infections

[Term]
id: HP:0005430
name: Recurrent Neisserial infections
alt_id: HP:0005377
alt_id: HP:0005378
def: "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [HPO:curators]
synonym: "Episodes of neisserial infection" EXACT []
synonym: "Recurrent neisseria infections" EXACT []
xref: UMLS:C3151083
is_a: HP:0005420 ! Recurrent gram-negative bacterial infections

[Term]
id: HP:0005432
name: Transient hypogammaglobulinemia of infancy
def: "At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia." [HPO:probinson]
synonym: "Newborn gammaglobulin deficiency" RELATED []
xref: SNOMEDCT_US:88714009
xref: UMLS:C0272238
xref: UMLS:C4020822
is_a: HP:0004313 ! Decreased antibody level in blood

[Term]
id: HP:0005435
name: Impaired T cell function
alt_id: HP:0002844
alt_id: HP:0005373
alt_id: HP:0005383
alt_id: HP:0005409
def: "Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity." [ORCID:0000-0001-7941-2961]
synonym: "Impaired T cell function" EXACT layperson []
synonym: "T-cell dysfunction" EXACT layperson []
xref: UMLS:C1860127
is_a: HP:0011840 ! Abnormality of T cell physiology

[Term]
id: HP:0005437
name: Recurrent infections in infancy and early childhood
def: "Recurrent infections at an early age with improvement in later childhood." [HPO:probinson]
xref: UMLS:C1844909
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0005439
name: Maxillozygomatic hypoplasia
def: "Hypoplasia of the maxillozygomatic complex." [HPO:probinson]
synonym: "Decreased projection of zygomaticomaxillary bone complex" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of malar bone complex" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of zygomaticomaxillary complex" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1848908
xref: UMLS:C4280488
is_a: HP:0000327 ! Hypoplasia of the maxilla
is_a: HP:0010669 ! Hypoplasia of the zygomatic bone

[Term]
id: HP:0005441
name: Sclerotic cranial sutures
def: "An increased density in the cranial sutures following obliteration." [HPO:curators]
xref: UMLS:C4025195
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0005442
name: Widely patent coronal suture
def: "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators]
xref: UMLS:C1856778
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0005445
name: Widened posterior fossa
xref: UMLS:C1855889
is_a: HP:0000932 ! Abnormality of the posterior cranial fossa

[Term]
id: HP:0005446
name: Obtuse angle of mandible
def: "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal." [HPO:probinson]
comment: See pmid:17213440 Figure 1G for an example of an obtuse mandibular angle.
synonym: "High mandibular plane angle" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Steep mandibular plane angle" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:709997007
xref: UMLS:C4038738
is_a: HP:0000277 ! Abnormality of the mandible

[Term]
id: HP:0005449
name: Bridged sella turcica
xref: MSH:C566689
xref: UMLS:C1866959
is_a: HP:0002681 ! Deformed sella turcica

[Term]
id: HP:0005450
name: Calvarial osteosclerosis
def: "An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators]
xref: UMLS:C1855657
is_a: HP:0005464 ! Craniofacial osteosclerosis

[Term]
id: HP:0005451
name: Decreased cranial base ossification
xref: UMLS:C1835442
is_a: HP:0004331 ! Decreased skull ossification

[Term]
id: HP:0005453
name: Absent/hypoplastic paranasal sinuses
def: "Aplasia or hypoplasia of the paranasal sinuses." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C1856639
is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses

[Term]
id: HP:0005456
name: Absent ethmoidal sinuses
def: "Lack (aplasia) of the ethmoidal sinus." [HPO:probinson]
synonym: "Agenesis of ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025194
is_a: HP:0002689 ! Absent paranasal sinuses
is_a: HP:3000040 ! Abnormality of ethmoid sinus

[Term]
id: HP:0005458
name: Premature closure of fontanelles
def: "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point." [DDD:awilkie, HPO:probinson]
synonym: "Early closure of the bregma sutures" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Early closure of the cranial sutures" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Early closure of the fontanelles" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Obliterated fontanelles" EXACT []
synonym: "Premature closure of the bregma sutures" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Premature closure of the cranial sutures" BROAD [ORCID:0000-0001-5889-4463]
xref: MSH:D003398
xref: SNOMEDCT_US:1667003
xref: SNOMEDCT_US:57219006
xref: UMLS:C0010278
xref: UMLS:C0277827
xref: UMLS:C4072853
is_a: HP:0011328 ! Abnormality of fontanelles

[Term]
id: HP:0005461
name: Craniofacial disproportion
xref: UMLS:C1867114
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0005462
name: Calcification of falx cerebri
def: "The presence of calcium deposition in the falx cerebri." [HPO:probinson]
xref: UMLS:C1397139
is_a: HP:0002514 ! Cerebral calcification
is_a: HP:0010653 ! Abnormality of the falx cerebri

[Term]
id: HP:0005463
name: Elongated sella turcica
xref: UMLS:C1863311
is_a: HP:0002681 ! Deformed sella turcica

[Term]
id: HP:0005464
name: Craniofacial osteosclerosis
def: "Abnormally increased density of craniofacial bone tissue." [HPO:probinson]
synonym: "Cranial sclerosis" RELATED []
xref: UMLS:C1845805
xref: UMLS:C4025193
is_a: HP:0011001 ! Increased bone mineral density
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0005465
name: Facial hyperostosis
alt_id: HP:0008508
def: "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton." [HPO:probinson]
subset: hposlim_core
synonym: "Enlargement of facial bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Enlargement of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Enlargment of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Excessive growth of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Excessive growth of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of facial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of facial skeleton" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of facial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of facial skeleton" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of the facial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increase in size of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of facial bones" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of facial skeleton" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1857501
xref: UMLS:C4280485
xref: UMLS:C4280486
xref: UMLS:C4280487
is_a: HP:0004493 ! Craniofacial hyperostosis

[Term]
id: HP:0005466
name: Hypoplasia of the frontal bone
alt_id: HP:0005493
def: "Underdevelopment of the frontal bone." [HPO:probinson]
synonym: "Decreased size of bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic frontal bones" EXACT []
synonym: "Hypotrophic frontal bone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic frontal bones" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin bone of forehead" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1845147
xref: UMLS:C4280483
xref: UMLS:C4280484
is_a: HP:0002692 ! Hypoplastic facial bones
is_a: HP:0011218 ! Abnormal shape of the frontal region

[Term]
id: HP:0005469
name: Flat occiput
alt_id: HP:0000247
alt_id: HP:0000249
def: "Reduced convexity of the occiput (posterior part of skull)." [pmid:19125436]
comment: Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone.
subset: hposlim_core
synonym: "Flat back of skull" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Flat back of the head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Flat back of the skull" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Flat posterior cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flat posterior head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Posterior flattening of the skull" EXACT []
xref: UMLS:C1837402
xref: UMLS:C4280482
is_a: HP:0011217 ! Abnormal shape of the occiput

[Term]
id: HP:0005472
name: Orbital craniosynostosis
xref: UMLS:C4025192
is_a: HP:0001363 ! Craniosynostosis
is_a: HP:3000030 ! Abnormality of bony orbit of skull

[Term]
id: HP:0005473
name: Fusion of middle ear ossicles
def: "Bony fusion of malleus, incus, and stapes." [HPO:probinson]
xref: UMLS:C1862068
is_a: HP:0004452 ! Abnormality of the middle ear ossicles
is_a: HP:0100240 ! Synostosis of joints

[Term]
id: HP:0005474
name: Decreased calvarial ossification
alt_id: HP:0002701
alt_id: HP:0002702
alt_id: HP:0005454
alt_id: HP:0005471
def: "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [DDD:awilkie, HPO:probinson]
synonym: "Poorly ossified calvaria" EXACT []
synonym: "Poorly ossified calvarium" EXACT []
synonym: "Soft calvaria" EXACT []
synonym: "Soft skullcap" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Undermineralized calvarium" EXACT []
xref: UMLS:C1833762
is_a: HP:0002683 ! Abnormality of the calvaria
is_a: HP:0004331 ! Decreased skull ossification

[Term]
id: HP:0005476
name: Widely patent sagittal suture
def: "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators]
xref: UMLS:C1856779
is_a: HP:0011329 ! Abnormality of cranial sutures

[Term]
id: HP:0005477
name: Progressive sclerosis of skull base
def: "Progressively increasing bone density of the skull base without significant changes in bony contour." [HPO:probinson]
xref: UMLS:C1835470
is_a: HP:0002694 ! Sclerosis of skull base

[Term]
id: HP:0005478
name: Prominent frontal sinuses
synonym: "Hyperplasia of frontal sinus" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of frontal sinus" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased size of frontal sinus" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased volume of frontal sinus" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Large frontal sinus" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1969404
xref: UMLS:C4280265
xref: UMLS:C4280479
xref: UMLS:C4280480
xref: UMLS:C4280481
is_a: HP:0002687 ! Abnormality of frontal sinus

[Term]
id: HP:0005479
name: Decreased circulating total IgE
alt_id: HP:0002854
def: "An abnormally decreased level of immunoglobulin E (IgE) in blood." [HPO:probinson]
synonym: "Decreased IgE" EXACT []
synonym: "IgE deficiency" EXACT []
xref: UMLS:C0860904
is_a: HP:0004313 ! Decreased antibody level in blood
is_a: HP:0410241 ! Abnormal IgE level
created_by: peter
creation_date: 2008-03-26T08:03:00Z

[Term]
id: HP:0005482
name: Abnormality of the alternative complement pathway
def: "A deviation in any aspect of the alternative complement pathway." []
comment: The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. {xref="PMID:16424154"}
xref: UMLS:C4025191
is_a: HP:0005339 ! Abnormality of complement system
created_by: peter
creation_date: 2008-03-26T08:12:00Z

[Term]
id: HP:0005483
name: Abnormal epiglottis morphology
def: "An abnormality of the epiglottis." [HPO:probinson]
synonym: "Abnormality of the epiglottis" EXACT []
xref: UMLS:C4025190
is_a: HP:0025423 ! Abnormal larynx morphology
created_by: peter
creation_date: 2008-03-26T08:25:00Z

[Term]
id: HP:0005484
name: Postnatal microcephaly
alt_id: HP:0000241
alt_id: HP:0000259
alt_id: HP:0005499
def: "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth." [HPO:probinson]
synonym: "Acquired microcephaly" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deceleration of head growth" EXACT []
synonym: "Development of small head that was not present at birth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Microcephaly, acquired" EXACT []
synonym: "Microcephaly, postnatal" EXACT []
synonym: "Postnatal deceleration of head circumference" EXACT []
synonym: "Secondary microcephaly" EXACT []
xref: UMLS:C1847514
is_a: HP:0000252 ! Microcephaly

[Term]
id: HP:0005486
name: Small fontanelle
def: "A fontanelle that is small for age." [HPO:probinson, pmid:12825844]
subset: hposlim_core
synonym: "Little cranial sutures" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Little fontanelle" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Microfontanelle" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small bregma sutures" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Small cranial sutures" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Small soft spot" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:276710001
xref: UMLS:C0456133
xref: UMLS:C4072854
xref: UMLS:C4072855
is_a: HP:0011328 ! Abnormality of fontanelles

[Term]
id: HP:0005487
name: Prominent metopic ridge
alt_id: HP:0005488
alt_id: HP:0005751
def: "Vertical bony ridge positioned in the midline of the forehead." [HPO:probinson, pmid:19125436]
comment: The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead.
subset: hposlim_core
synonym: "Prominent frontal ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent frontal suture" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Prominent metopic suture" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Ridging of frontal suture" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Ridging of metopic suture" EXACT []
xref: UMLS:C1857949
is_a: HP:0005556 ! Abnormality of the metopic suture

[Term]
id: HP:0005490
name: Postnatal macrocephaly
def: "The postnatal development of an abnormally large skull (macrocephaly)." [HPO:probinson]
synonym: "Macrocephaly, postnatal" EXACT []
xref: UMLS:C1854417
is_a: HP:0000256 ! Macrocephaly

[Term]
id: HP:0005494
name: Premature posterior fontanelle closure
xref: UMLS:C1839126
is_a: HP:0005458 ! Premature closure of fontanelles

[Term]
id: HP:0005495
name: Metopic suture patent to nasal root
def: "The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root." [HPO:probinson, pmid:11711818]
comment: This feature is a characteristic of Schinzel-Giedion midface retraction syndrome.
xref: UMLS:C4025189
is_a: HP:0005556 ! Abnormality of the metopic suture

[Term]
id: HP:0005498
name: Midline skin dimples over anterior/posterior fontanelles
xref: UMLS:C1855690
is_a: HP:0000236 ! Abnormality of the anterior fontanelle

[Term]
id: HP:0005502
name: Increased red cell osmotic fragility
synonym: "Increased erythrocyte osmotic fragility" EXACT []
synonym: "Increased red cell fragility" EXACT []
xref: UMLS:C1849478
is_a: HP:0020054 ! Abnormal erythrocyte physiology

[Term]
id: HP:0005505
name: Refractory anemia
xref: MSH:D000753
xref: SNOMEDCT_US:128845005
xref: UMLS:C0002893
is_a: HP:0001903 ! Anemia

[Term]
id: HP:0005506
name: Chronic myelogenous leukemia
alt_id: HP:0005544
def: "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate." [HPO:probinson]
synonym: "Chronic myelocytic leukemia" EXACT []
synonym: "Chronic myeloid leukemia" EXACT []
xref: DOID:8552 "chronic myeloid leukemia"
xref: MSH:D015464
xref: SNOMEDCT_US:63364005
xref: SNOMEDCT_US:92818009
xref: UMLS:C0023473
is_a: HP:0005558 ! Chronic leukemia

[Term]
id: HP:0005507
name: Hemoglobin Barts
def: "Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues." [HPO:probinson]
comment: Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease.
synonym: "Hb Barts" EXACT HP:0045077 []
xref: UMLS:C3539063
is_a: HP:0011902 ! Abnormal hemoglobin

[Term]
id: HP:0005508
name: Monoclonal immunoglobulin M proteinemia
def: "Presence of a monoclonal immunoglobulin M protein in the serum." [HPO:probinson, PMID:25815903]
comment: This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells.
synonym: "Waldenstrom macroglobulinemia" RELATED []
xref: MSH:D008258
xref: SNOMEDCT_US:190817009
xref: SNOMEDCT_US:190818004
xref: SNOMEDCT_US:35562000
xref: UMLS:C0024419
is_a: HP:0003496 ! Increased circulating IgM level
is_a: HP:0005523 ! Lymphoproliferative disorder
is_a: HP:0031047 ! Paraproteinemia

[Term]
id: HP:0005510
name: Transient erythroblastopenia
def: "A transient reduction in the number of erythroblasts in the circulation." [HPO:probinson]
comment: An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus.
synonym: "Transient decrease in blood erythrocyte number" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4082199
is_a: HP:0001903 ! Anemia

[Term]
id: HP:0005511
name: Heinz body anemia
def: "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells." [HPO:probinson]
xref: MSH:C563030
xref: UMLS:C0700299
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0005512
name: Impaired neutrophil killing of staphylococci
def: "A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph." [https://en.wikipedia.org/wiki/Staphylococcus_aureus]
xref: UMLS:C4025188
is_a: HP:0011993 ! Impaired neutrophil bactericidal activity

[Term]
id: HP:0005513
name: Increased megakaryocyte count
def: "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow." [HPO:probinson]
xref: UMLS:C4025187
is_a: HP:0012143 ! Abnormal megakaryocyte morphology

[Term]
id: HP:0005517
name: T-cell lymphoma/leukemia
def: "A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas." [HPO:probinson]
comment: T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1).
xref: UMLS:C4025186
is_a: HP:0012190 ! T-cell lymphoma

[Term]
id: HP:0005518
name: Increased mean corpuscular volume
alt_id: HP:0005536
def: "Larger than normal size of erythrocytes." [HPO:probinson]
comment: Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits.
synonym: "Erythrocyte macrocytosis" EXACT []
synonym: "Increased MCV" EXACT HP:0045077 []
xref: UMLS:C0855791
is_a: HP:0025065 ! Abnormal mean corpuscular volume

[Term]
id: HP:0005520
name: Chronic disseminated intravascular coagulation
def: "A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced." [HPO:probinson]
synonym: "Chronic consumption coagulopathy" EXACT []
synonym: "Compensated disseminated intravascular coagulation" EXACT []
xref: UMLS:C1862184
is_a: HP:0005521 ! Disseminated intravascular coagulation

[Term]
id: HP:0005521
name: Disseminated intravascular coagulation
def: "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels." [HPO:probinson, pmid:10451465, pmid:11816725]
comment: DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced.
xref: MSH:D004211
xref: SNOMEDCT_US:67406007
xref: UMLS:C0012739
is_a: HP:0001977 ! Abnormal thrombosis

[Term]
id: HP:0005522
name: Pyridoxine-responsive sideroblastic anemia
def: "A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment." [HPO:probinson]
xref: SNOMEDCT_US:191260004
xref: SNOMEDCT_US:25443007
xref: UMLS:C0272027
is_a: HP:0001924 ! Sideroblastic anemia

[Term]
id: HP:0005523
name: Lymphoproliferative disorder
synonym: "Lymphoproliferative disorders" RELATED [HPO:skoehler]
xref: MSH:D008232
xref: SNOMEDCT_US:277466009
xref: SNOMEDCT_US:414629003
xref: SNOMEDCT_US:77121009
xref: SNOMEDCT_US:84631004
xref: UMLS:C0024314
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0005524
name: Macrocytic hemolytic disease
xref: UMLS:C4025185
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0005525
name: Spontaneous hemolytic crises
xref: UMLS:C4025184
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0005526
name: Lymphoid leukemia
def: "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539]
xref: MSH:D007945
xref: SNOMEDCT_US:188725004
xref: SNOMEDCT_US:32280000
xref: UMLS:C0023448
is_a: HP:0001909 ! Leukemia

[Term]
id: HP:0005527
name: Reduced kininogen activity
alt_id: HP:0004867
alt_id: HP:0005500
alt_id: HP:0005530
alt_id: HP:0005538
def: "Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade." [DDD:wouwehand, HPO:probinson]
comment: Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor.
synonym: "Fitzgerald factor deficiency" EXACT []
synonym: "Kininogen deficiency" EXACT []
synonym: "Williams factor deficiency" EXACT []
synonym: "Williams-Fitzgerald-Flaujeac factor deficiency" EXACT []
xref: MSH:C537060
xref: SNOMEDCT_US:27312002
xref: UMLS:C0272340
is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system
is_a: HP:0010989 ! Abnormality of the intrinsic pathway

[Term]
id: HP:0005528
name: Bone marrow hypocellularity
alt_id: HP:0005529
alt_id: HP:0100549
def: "A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat." [DDD:wouwehand, HPO:probinson]
synonym: "Bone marrow failure" EXACT layperson []
synonym: "Bone marrow hypoplasia" EXACT []
synonym: "Hypoplastic bone marrow" EXACT []
xref: UMLS:C1855710
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow

[Term]
id: HP:0005531
name: Biphenotypic acute leukaemia
def: "A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias." [HPO:probinson, pmid:9107085]
synonym: "Acute biphenotypic leukemia" EXACT []
synonym: "Myeloid/lymphoid leukemia" EXACT []
xref: MSH:D015456
xref: SNOMEDCT_US:128818009
xref: SNOMEDCT_US:278453007
xref: UMLS:C0023464
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0005532
name: Macrocytic dyserythropoietic anemia
xref: UMLS:C4025183
is_a: HP:0001972 ! Macrocytic anemia

[Term]
id: HP:0005534
name: Transient myeloproliferative syndrome
def: "A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts." [PMID:22966823]
synonym: "TMD" EXACT HP:0045077 []
synonym: "Transient leukemia of Down syndrome" EXACT []
synonym: "Transient myeloproliferative disorder" EXACT []
xref: MSH:C563551
xref: SNOMEDCT_US:450934005
xref: UMLS:C1834582
is_a: HP:0005547 ! Myeloproliferative disorder

[Term]
id: HP:0005535
name: Exercise-induced hemolysis
def: "A form of hemolytic anemia that can be triggered by exertion." [HPO:probinson]
xref: UMLS:C4025182
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0005537
name: Decreased mean platelet volume
alt_id: HP:0001938
def: "Average platelet volume below the lower limit of the normal reference interval." [DDD:wouwehand]
comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL).
synonym: "Small platelet size" EXACT layperson []
synonym: "Small platelets" EXACT layperson []
synonym: "Small platelets size" EXACT layperson []
xref: UMLS:C1096368
xref: UMLS:C1833182
is_a: HP:0011876 ! Abnormal platelet volume

[Term]
id: HP:0005539
name: T cell chronic lymphocytic lymphoma/leukemia
def: "A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent." [ISBN:9780721600406]
xref: UMLS:C4025181
is_a: HP:0005526 ! Lymphoid leukemia

[Term]
id: HP:0005540
name: Red blood cell keratocytosis
def: "A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns." [HPO:probinson]
comment: Kerato- is derived from the Greek word for horn.
synonym: "Distorted red blood cells resembling keratocytes" EXACT []
synonym: "RBC keratocytosis" EXACT HP:0045077 []
xref: UMLS:C4021635
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0005541
name: Congenital agranulocytosis
def: "Congenital onset of a marked decrease in the number of granulocytes." [HPO:probinson]
xref: MSH:C537592
xref: SNOMEDCT_US:89655007
xref: UMLS:C1853118
is_a: HP:0012234 ! Agranulocytosis

[Term]
id: HP:0005542
name: Prolonged whole-blood clotting time
alt_id: HP:0003229
def: "An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot." [HPO:probinson]
synonym: "Prolonged clotting time" EXACT []
xref: UMLS:C0151563
is_a: HP:0001928 ! Abnormality of coagulation

[Term]
id: HP:0005543
name: Reduced protein C activity
def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va." [HPO:probinson]
comment: Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis.
synonym: "Protein C deficiency" EXACT []
xref: MSH:D020151
xref: SNOMEDCT_US:76407009
xref: UMLS:C0398625
is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway

[Term]
id: HP:0005546
name: Increased red cell osmotic resistance
xref: UMLS:C1858628
is_a: HP:0020054 ! Abnormal erythrocyte physiology

[Term]
id: HP:0005547
name: Myeloproliferative disorder
def: "Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential." [HPO:probinson]
comment: There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis.
xref: MSH:D009196
xref: SNOMEDCT_US:414794006
xref: SNOMEDCT_US:425333006
xref: UMLS:C0027022
is_a: HP:0001909 ! Leukemia

[Term]
id: HP:0005548
name: Megakaryocytopenia
def: "A reduced count of megakaryocytes." [HPO:probinson]
comment: Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes.
xref: UMLS:C1858312
is_a: HP:0012143 ! Abnormal megakaryocyte morphology

[Term]
id: HP:0005549
name: obsolete Congenital neutropenia
def: "A form of neutropenia with congenital onset." [HPO:probinson]
comment: This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset.
synonym: "Low blood neutrophil level since birth" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:C537592
xref: SNOMEDCT_US:89655007
xref: UMLS:C1853118
is_obsolete: true
consider: HP:0001875

[Term]
id: HP:0005550
name: Chronic lymphatic leukemia
alt_id: HP:0006734
alt_id: HP:0006760
def: "A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias." [HPO:curators]
synonym: "Chronic lymphocytic leukemia" EXACT []
xref: MSH:D015451
xref: SNOMEDCT_US:277473004
xref: SNOMEDCT_US:51092000
xref: SNOMEDCT_US:92814006
xref: UMLS:C0023434
is_a: HP:0005558 ! Chronic leukemia

[Term]
id: HP:0005556
name: Abnormality of the metopic suture
def: "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\"." [HPO:curators]
xref: UMLS:C4025180
is_a: HP:0000290 ! Abnormality of the forehead
is_a: HP:0011329 ! Abnormality of cranial sutures
created_by: peter
creation_date: 2008-03-27T10:04:00Z

[Term]
id: HP:0005557
name: Abnormality of the zygomatic arch
def: "An abnormality of the zygomatic arch, also known as the cheek bone." [HPO:probinson]
comment: The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone.
synonym: "Abnormality of the malar arch" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the malar arch" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the malar arch" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the malar arch" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025179
is_a: HP:0010668 ! Abnormality of the zygomatic bone
created_by: peter
creation_date: 2008-03-27T10:20:00Z

[Term]
id: HP:0005558
name: Chronic leukemia
def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483]
synonym: "Chronic blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:128933000
xref: SNOMEDCT_US:92812005
xref: UMLS:C1279296
xref: UMLS:C4280478
is_a: HP:0001909 ! Leukemia
created_by: peter
creation_date: 2008-03-27T10:32:00Z

[Term]
id: HP:0005559
name: Abnormality of the kinin-kallikrein system
xref: UMLS:C4025178
is_a: HP:0010876 ! Abnormal circulating protein level
created_by: peter
creation_date: 2008-03-27T10:34:00Z

[Term]
id: HP:0005560
name: Imbalanced hemoglobin synthesis
def: "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia." [HPO:probinson]
comment: While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography.
synonym: "Imbalanced Hb synthesis" EXACT HP:0045077 []
xref: UMLS:C4025177
is_a: HP:0011902 ! Abnormal hemoglobin
created_by: peter
creation_date: 2008-03-27T10:44:00Z

[Term]
id: HP:0005561
name: Abnormality of bone marrow cell morphology
def: "An anomaly of the form or number of cells in the bone marrow." [DDD:wouwehand, HPO:probinson]
synonym: "Anomaly of the bone marrow cells" EXACT []
synonym: "Bone marrow disease" RELATED layperson []
xref: MSH:D001855
xref: SNOMEDCT_US:127035006
xref: UMLS:C0005956
xref: UMLS:C4021634
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
created_by: peter
creation_date: 2008-03-27T10:46:00Z

[Term]
id: HP:0005562
name: Multiple renal cysts
def: "The presence of many cysts in the kidney." [Eurenomics:ewuehl]
synonym: "Multiple kidney cysts" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:253883006
xref: UMLS:C0431718
is_a: HP:0000107 ! Renal cyst

[Term]
id: HP:0005563
name: Decreased numbers of nephrons
def: "A reduction in the count of nephrons per kidney." [Eurenomics:ewuehl]
synonym: "Decreased numbers of glomeruli" RELATED []
synonym: "Oligonephronia" EXACT []
xref: UMLS:C1841994
xref: UMLS:C2673888
is_a: HP:0012575 ! Abnormal nephron morphology

[Term]
id: HP:0005564
name: Absence of renal corticomedullary differentiation
alt_id: HP:0005581
def: "A lack of differentiation between renal cortex and medulla on diagnostic imaging." [HPO:probinson]
synonym: "Absent renal corticomedullary differentiation" EXACT []
synonym: "Loss of corticomedullary differentiation" EXACT []
xref: UMLS:C1849765
is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation

[Term]
id: HP:0005565
name: Reduced renal corticomedullary differentiation
alt_id: HP:0005573
def: "Reduced differentiation between renal cortex and medulla on diagnostic imaging." [HPO:probinson]
synonym: "Loss of definition of corticomedullary differentiation" EXACT []
xref: UMLS:C3807131
is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation

[Term]
id: HP:0005567
name: Renal magnesium wasting
def: "High urine magnesium in the presence of hypomagnesemia." [Eurenomics:ewuehl]
xref: MSH:C537152
xref: UMLS:C1835171
is_a: HP:0012607 ! Abnormal urine magnesium concentration

[Term]
id: HP:0005571
name: Increased renal tubular phosphate reabsorption
synonym: "Increased percent tubular reabsorption of phosphorus" EXACT []
xref: UMLS:C1968910
is_a: HP:0011038 ! Abnormality of renal resorption

[Term]
id: HP:0005572
name: Decreased renal tubular phosphate excretion
xref: UMLS:C1968899
is_a: HP:0011036 ! Abnormality of renal excretion

[Term]
id: HP:0005574
name: Non-acidotic proximal tubulopathy
def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss." [HPO:probinson]
xref: UMLS:C4025176
is_a: HP:0000114 ! Proximal tubulopathy

[Term]
id: HP:0005575
name: Hemolytic-uremic syndrome
synonym: "Hemolytic uremic syndrome" EXACT []
xref: MSH:D006463
xref: SNOMEDCT_US:111407006
xref: UMLS:C0019061
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0005576
name: Tubulointerstitial fibrosis
alt_id: HP:0000129
alt_id: HP:0004714
alt_id: HP:0008171
def: "A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney." [HPO:probinson, pmid:19144691]
comment: This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086)
synonym: "Renal interstitial fibrosis" EXACT []
synonym: "Tubulointerstitial renal fibrosis" EXACT []
synonym: "Tubulointerstitial scarring" RELATED []
xref: UMLS:C1969372
is_a: HP:0001969 ! Tubulointerstitial abnormality
is_a: HP:0030760 ! Renal fibrosis

[Term]
id: HP:0005579
name: Impaired reabsorption of chloride
def: "Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine." [PMID:25820368]
synonym: "Impaired reabsorption of Cl" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Impaired reabsorption of Cl-" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C1846349
is_a: HP:0011038 ! Abnormality of renal resorption

[Term]
id: HP:0005580
name: Duplication of renal pelvis
def: "A duplication of the renal pelvis." [HPO:probinson]
xref: UMLS:C1839269
is_a: HP:0000075 ! Renal duplication
is_a: HP:0010944 ! Abnormal renal pelvis morphology

[Term]
id: HP:0005583
name: Tubular basement membrane disintegration
alt_id: HP:0005577
def: "DIsruption and breaking up of the basement membrane of the tubules of the kidney." [HPO:probinson]
comment: Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction.
synonym: "Disintegration of the tubular basement membrane" EXACT []
xref: UMLS:C1968618
is_a: HP:0000091 ! Abnormal renal tubule morphology

[Term]
id: HP:0005584
name: Renal cell carcinoma
alt_id: HP:0006720
def: "A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule." [HPO:probinson]
comment: Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma.
synonym: "Cancer starting in small tubes in kidneys" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Hypernephroma" EXACT []
synonym: "Renal carcinoma" EXACT []
xref: MSH:D002292
xref: NCIT:C2916
xref: SNOMEDCT_US:41607009
xref: SNOMEDCT_US:702391001
xref: UMLS:C0007134
is_a: HP:0009726 ! Renal neoplasm

[Term]
id: HP:0005585
name: Spotty hyperpigmentation
synonym: "Patchy depigmentation" EXACT []
synonym: "Patchy hyperpigmentation" EXACT []
synonym: "Spotty increased pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3806179
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0005586
name: Hyperpigmentation in sun-exposed areas
synonym: "Hyperpigmentation of exposed areas" EXACT []
synonym: "Increased pigmentation in sun-exposed areas" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3805877
is_a: HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: HP:0005587
name: Profuse pigmented skin lesions
xref: UMLS:C1834424
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0005588
name: Patchy palmoplantar keratoderma
def: "A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected." [HPO:probinson]
comment: Patchy palmoplantar keratoderma may develop at sites of recurrent friction.
synonym: "Palmoplantar keratoderma, patchy" EXACT []
xref: UMLS:C4021633
is_a: HP:0000982 ! Palmoplantar keratoderma

[Term]
id: HP:0005590
name: Spotty hypopigmentation
synonym: "Patchy hypopigmentation" EXACT layperson []
synonym: "Spotty decreased pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3806178
is_a: HP:0001053 ! Hypopigmented skin patches

[Term]
id: HP:0005592
name: Giant melanosomes in melanocytes
alt_id: HP:0003342
def: "The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes." [HPO:probinson]
comment: Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin.
synonym: "Macromelanosomes" EXACT []
xref: UMLS:C3806221
is_a: HP:0011125 ! Abnormality of dermal melanosomes

[Term]
id: HP:0005593
name: Macular hypopigmented whorls, streaks, and patches
xref: UMLS:C3806616
is_a: HP:0001053 ! Hypopigmented skin patches

[Term]
id: HP:0005595
name: Generalized hyperkeratosis
synonym: "Hyperkeratosis, generalized" EXACT []
xref: UMLS:C1969913
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0005597
name: Congenital alopecia totalis
def: "Loss of all scalp hair with congenital onset." [HPO:probinson]
xref: UMLS:C4025175
is_a: HP:0007418 ! Alopecia totalis

[Term]
id: HP:0005598
name: Facial telangiectasia in butterfly midface distribution
def: "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution." [HPO:curators]
synonym: "Butterfly facial telangiectasia" EXACT []
xref: UMLS:C4021632
is_a: HP:0007380 ! Facial telangiectasia

[Term]
id: HP:0005599
name: Hypopigmentation of hair
subset: hposlim_core
synonym: "Hair hypopigmentation" EXACT []
synonym: "Loss of hair color" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C3278401
is_a: HP:0009887 ! Abnormality of hair pigmentation

[Term]
id: HP:0005600
name: Congenital giant melanocytic nevus
alt_id: HP:0005604
def: "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child." [HPO:probinson, pmid:21139903]
comment: Between 4% and 6% of these lesions will develop into a malignant melanoma.
synonym: "Giant pigmented hairy nevus" EXACT []
synonym: "Giant pigmented mole" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Giant pigmented nevus" EXACT []
xref: MSH:C536819
xref: SNOMEDCT_US:10291008
xref: SNOMEDCT_US:254815002
xref: UMLS:C1842036
is_a: HP:0000995 ! Melanocytic nevus

[Term]
id: HP:0005602
name: Progressive vitiligo
xref: UMLS:C3806428
is_a: HP:0001045 ! Vitiligo

[Term]
id: HP:0005603
name: Numerous congenital melanocytic nevi
xref: UMLS:C3806415
is_a: HP:0000995 ! Melanocytic nevus

[Term]
id: HP:0005605
name: Large cafe-au-lait macules with irregular margins
def: "Large hypermelanotic macules with jagged borders." [HPO:probinson]
comment: This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California.
xref: UMLS:C4025174
is_a: HP:0001034 ! Hypermelanotic macule

[Term]
id: HP:0005606
name: Hyperpigmented nevi and streak
xref: UMLS:C3805692
is_a: HP:0000995 ! Melanocytic nevus

[Term]
id: HP:0005607
name: Abnormal tracheobronchial morphology
alt_id: HP:0005940
synonym: "Tracheobronchial anomalies" EXACT []
xref: Fyler:4232
xref: UMLS:C4021631
is_a: HP:0002087 ! Abnormality of the upper respiratory tract
created_by: peter
creation_date: 2008-03-28T09:03:00Z

[Term]
id: HP:0005608
name: Bilobate gallbladder
def: "The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium." [HPO:probinson, pmid:14571173, pmid:16553121, pmid:21170223]
comment: During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders.
synonym: "Bilobed gallbladder" EXACT []
synonym: "Double gallbladder" EXACT []
synonym: "Gallbladder duplication" EXACT []
xref: UMLS:C1846422
is_a: HP:0012437 ! Abnormal gallbladder morphology

[Term]
id: HP:0005609
name: Gallbladder dysfunction
synonym: "Gallbladder dysfunction" EXACT layperson []
xref: SNOMEDCT_US:51047007
xref: UMLS:C0232769
is_a: HP:0012438 ! Abnormal gallbladder physiology

[Term]
id: HP:0005612
name: Arthrogryposis-like hand anomaly
xref: UMLS:C4025173
is_a: HP:0005684 ! Distal arthrogryposis

[Term]
id: HP:0005613
name: Aplasia/hypoplasia of the femur
alt_id: HP:0006396
alt_id: HP:0006425
def: "Absence or underdevelopment of the femur." [HPO:probinson]
synonym: "Absent/small thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypoplastic to absent femora" EXACT []
synonym: "Hypoplastic/aplastic femora" EXACT []
xref: UMLS:C1851310
is_a: HP:0002823 ! Abnormality of femur morphology
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs

[Term]
id: HP:0005616
name: Accelerated skeletal maturation
alt_id: HP:0002649
alt_id: HP:0005854
def: "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
synonym: "Advanced bone age" EXACT layperson []
synonym: "Early bone maturation" EXACT layperson []
xref: SNOMEDCT_US:123982003
xref: UMLS:C0545053
is_a: HP:0000927 ! Abnormality of skeletal maturation

[Term]
id: HP:0005617
name: Bilateral camptodactyly
xref: UMLS:C4021830
is_a: HP:0100490 ! Camptodactyly of finger

[Term]
id: HP:0005619
name: Thoracolumbar kyphosis
alt_id: HP:0003439
def: "Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance." [HPO:probinson]
synonym: "Thoracolumbar gibbus" EXACT []
synonym: "Thoracolumbar gibbus deformity" EXACT []
xref: UMLS:C1855418
is_a: HP:0002942 ! Thoracic kyphosis
is_a: HP:0100712 ! Abnormality of the lumbar spine

[Term]
id: HP:0005620
name: Hypermobility of interphalangeal joints
def: "The ability of the interphalangeal joints to move beyond their normal range of motion." [HPO:curators]
synonym: "Increased mobility of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025172
is_a: HP:0001382 ! Joint hypermobility

[Term]
id: HP:0005621
name: Trapezoidal shaped vertebral bodies
xref: UMLS:C4025171
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0005622
name: Broad long bones
def: "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately." [HPO:probinson]
synonym: "Broad long bones" EXACT layperson []
synonym: "Wide long bones" EXACT layperson []
synonym: "Widened long bones" EXACT layperson []
xref: UMLS:C4021630
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0005623
name: Absent ossification of calvaria
def: "Absent ossification of the calvaria (vault of the skull)." [HPO:probinson]
synonym: "Absent bone maturation of skullcap" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Absent ossification of skull vault" EXACT []
xref: UMLS:C4021629
is_a: HP:0005474 ! Decreased calvarial ossification

[Term]
id: HP:0005625
name: Osteoporosis of vertebrae
def: "Osteoporosis affecting predominantly the vertebrae." [HPO:curators]
xref: UMLS:C4025170
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0040161 ! Localized osteoporosis

[Term]
id: HP:0005626
name: Posterior fusion of lumbosacral vertebrae
def: "Bony fusion of the posterior part of the L5 vertebral body with the sacrum." [pmid:5443339]
xref: UMLS:C4025169
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0005627
name: Type D brachydactyly
def: "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes." [HPO:probinson]
synonym: "Brachydactyly type D" EXACT []
xref: MSH:C562420
xref: UMLS:C0220664
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0005632
name: Absent forearm
synonym: "Absent forearm" EXACT layperson []
synonym: "Absent forearms" RELATED layperson [HPO:skoehler]
xref: UMLS:C1408532
is_a: HP:0002973 ! Abnormality of the forearm

[Term]
id: HP:0005638
name: Decreased anterioposterior diameter of lumbar vertebral bodies
xref: UMLS:C4025168
is_a: HP:0008473 ! Narrow anterio-posterior vertebral body diameter

[Term]
id: HP:0005639
name: Hyperextensible hand joints
def: "The ability of the joints of the hand to move beyond their normal range of motion." [HPO:curators]
xref: UMLS:C1856877
is_a: HP:0001382 ! Joint hypermobility

[Term]
id: HP:0005640
name: Abnormal vertebral segmentation and fusion
xref: UMLS:C4025167
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0005643
name: Short 3rd toe
def: "Underdevelopment (hypoplasia) of the third toe." [HPO:probinson]
synonym: "Brachydactyly of third toes" EXACT []
synonym: "Short 3rd toe" EXACT layperson []
synonym: "Short third toe" EXACT layperson []
xref: UMLS:C4021628
is_a: HP:0001831 ! Short toe

[Term]
id: HP:0005645
name: Intervertebral disk calcification
def: "The presence of abnormal calcium deposition of the intervertebral disk." [HPO:probinson]
subset: hposlim_core
synonym: "Multiple intervertebral disk calcifications" EXACT []
xref: SNOMEDCT_US:240211000
xref: UMLS:C0410607
is_a: HP:0005108 ! Abnormality of the intervertebral disk
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0005648
name: Bilateral ulnar hypoplasia
def: "Underdevelopment of the ulna on both sides." [HPO:probinson]
comment: May be a symmetric finding.
xref: UMLS:C4025166
is_a: HP:0003022 ! Hypoplasia of the ulna

[Term]
id: HP:0005650
name: Cutaneous syndactyly between fingers 2 and 5
def: "A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints." [HPO:probinson]
xref: UMLS:C4025165
is_a: HP:0010554 ! Cutaneous finger syndactyly

[Term]
id: HP:0005652
name: Cortical sclerosis
def: "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity." [HPO:probinson]
xref: UMLS:C4025164
is_a: HP:0003103 ! Abnormal cortical bone morphology
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0005653
name: Moderate generalized osteoporosis
def: "Moderate osteoporosis." [HPO:curators]
xref: UMLS:C4025163
is_a: HP:0040160 ! Generalized osteoporosis

[Term]
id: HP:0005655
name: Multiple digital exostoses
def: "Multiple exostoses originating in the fingers and toes." [HPO:probinson]
comment: This feature is characteristic of metachondromatosis (MIM:156250).
xref: UMLS:C4025162
is_a: HP:0002762 ! Multiple exostoses

[Term]
id: HP:0005656
name: Positional foot deformity
def: "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies." [HPO:probinson]
xref: UMLS:C4025161
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0005659
name: Thoracic kyphoscoliosis
xref: UMLS:C4015465
is_a: HP:0002943 ! Thoracic scoliosis

[Term]
id: HP:0005661
name: Salmonella osteomyelitis
def: "Osteomyelitis caused by infection with the bacteria, salmonella." [PMID:26668420]
synonym: "Salmonella bone infection" EXACT layperson []
xref: SNOMEDCT_US:6803002
xref: UMLS:C0152491
is_a: HP:0002754 ! Osteomyelitis

[Term]
id: HP:0005665
name: Massively thickened long bone cortices
def: "Extreme thickening of the cortex of long bones." [HPO:curators]
xref: UMLS:C4025160
is_a: HP:0000935 ! Thickened cortex of long bones

[Term]
id: HP:0005667
name: Os odontoideum
def: "Separation of the odontoid process from the body of the axis." [HPO:probinson, PMID:21543665, pmid:22224150]
comment: With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits.
xref: SNOMEDCT_US:445242006
xref: UMLS:C2919848
is_a: HP:0003310 ! Abnormality of the odontoid process

[Term]
id: HP:0005671
name: Bilateral intracranial calcifications
def: "Deposition of calcium salts on both sides of the brain." [HPO:probinson]
xref: UMLS:C4025159
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0005676
name: Rudimentary postaxial polydactyly of hands
xref: UMLS:C4025158
is_a: HP:0001162 ! Postaxial hand polydactyly

[Term]
id: HP:0005678
name: Anterior atlanto-occipital dislocation
xref: UMLS:C4025157
is_a: HP:0003414 ! Atlantoaxial dislocation

[Term]
id: HP:0005679
name: Dupuytren contracture
def: "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints." [HPO:probinson]
comment: A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers.
xref: MSH:D004387
xref: SNOMEDCT_US:203045001
xref: SNOMEDCT_US:203047009
xref: SNOMEDCT_US:274142002
xref: SNOMEDCT_US:410813000
xref: UMLS:C0013312
is_a: HP:0009473 ! Joint contracture of the hand

[Term]
id: HP:0005680
name: Tongue-like lumbar vertebral deformities
def: "A tongue-like protusion from the anterior aspect of lumbar vertebral bodies." [PMID:25349664]
xref: UMLS:C4025156
is_a: HP:0008430 ! Anterior beaking of lumbar vertebrae

[Term]
id: HP:0005681
name: Juvenile rheumatoid arthritis
synonym: "Juvenile idiopathic arthritis" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432]
synonym: "Juvenile RA" EXACT HP:0045077 []
synonym: "Rheumatoid arthritis, juvenile" EXACT []
xref: SNOMEDCT_US:410795001
xref: UMLS:C3714757
is_a: HP:0001370 ! Rheumatoid arthritis

[Term]
id: HP:0005682
name: Talocalcaneal synostosis
synonym: "Fusion of foot joint" BROAD layperson [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432]
synonym: "Fusion of the subtalar joint" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432]
xref: UMLS:C4025155
xref: UMLS:C4255214
is_a: HP:0008368 ! Tarsal synostosis

[Term]
id: HP:0005684
name: Distal arthrogryposis
def: "A form of arthrogryposis primarily affecting the hands and the feet." [HPO:probinson]
xref: SNOMEDCT_US:24269006
xref: UMLS:C0265213
is_a: HP:0002803 ! Congenital contracture

[Term]
id: HP:0005686
name: Patchy osteosclerosis
def: "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators]
synonym: "Patchy increase of bone mineral density" EXACT [HPO:curators]
synonym: "Uneven increase in bone density" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1855845
is_a: HP:0010658 ! Patchy changes of bone mineral density
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0005687
name: Deformed humeral heads
synonym: "Deformed head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025154
is_a: HP:0003871 ! Deformed humerus

[Term]
id: HP:0005688
name: Dysplastic distal thumb phalanges with a central hole
xref: UMLS:C4025153
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb

[Term]
id: HP:0005689
name: Dermatoglyphic ridges abnormal
xref: UMLS:C4025152
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0005692
name: Joint hyperflexibility
def: "Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles." [https://orcid.org/0000-0002-6548-5200]
synonym: "Joints move beyond expected range of motion" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C3553764
is_a: HP:0001382 ! Joint hypermobility

[Term]
id: HP:0005694
name: Partial fusion of proximal row of carpal bones
synonym: "Partial fusion of innermost row of wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3152021
is_a: HP:0009702 ! Carpal synostosis

[Term]
id: HP:0005696
name: Postaxial polydactyly type A
def: "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal." [HPO:probinson]
xref: MSH:C562429
xref: SNOMEDCT_US:715704001
xref: UMLS:C3887487
is_a: HP:0001162 ! Postaxial hand polydactyly

[Term]
id: HP:0005700
name: Increased bone density with cystic changes
xref: UMLS:C4025151
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0005701
name: Multiple enchondromatosis
xref: MSH:D004687
xref: SNOMEDCT_US:268274005
xref: UMLS:C0014084
is_a: HP:0002763 ! Abnormal cartilage morphology
is_a: HP:0030038 ! Enchondroma

[Term]
id: HP:0005707
name: Bilateral triphalangeal thumbs
def: "A bilateral form of triphalangeal thumb." [HPO:probinson]
synonym: "Bilateral digitalized thumb" EXACT []
xref: UMLS:C4021627
is_a: HP:0001199 ! Triphalangeal thumb

[Term]
id: HP:0005709
name: 2-3 toe cutaneous syndactyly
synonym: "Webbed skin of 2nd-3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:205145001
xref: UMLS:C0432040
is_a: HP:0010621 ! Cutaneous syndactyly of toes

[Term]
id: HP:0005715
name: Flattened knee epiphyses
synonym: "Flattened end part of knee bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025150
is_a: HP:0002815 ! Abnormality of the knee
is_a: HP:0003071 ! Flattened epiphysis

[Term]
id: HP:0005716
name: Lethal skeletal dysplasia
alt_id: HP:0008898
synonym: "Lethal dwarfism identifiable at birth" EXACT layperson []
xref: UMLS:C4021626
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0005720
name: Shortening of all metacarpals
def: "Abnormal reduction in length of all metacarpal bones." [HPO:probinson]
synonym: "Shortened long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025149
is_a: HP:0010049 ! Short metacarpal

[Term]
id: HP:0005722
name: Hyperextensible thumb
def: "The ability of the thumb joints to move beyond their normal range of motion." [HPO:curators]
synonym: "Double jointed thumb" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025148
is_a: HP:0005639 ! Hyperextensible hand joints

[Term]
id: HP:0005723
name: Shoe-shaped sella turcica
xref: UMLS:C4025147
is_a: HP:0002681 ! Deformed sella turcica

[Term]
id: HP:0005725
name: Nonopposable triphalangeal thumb
def: "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand." [HPO:probinson]
xref: MSH:C536562
xref: UMLS:C2931238
is_a: HP:0001199 ! Triphalangeal thumb

[Term]
id: HP:0005726
name: Thumbs hypoplastic with bulbous tips
synonym: "Short thumbs with bulbous tips" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025146
is_a: HP:0009778 ! Short thumb

[Term]
id: HP:0005731
name: Cortical irregularity
def: "An abnormal irregularity of cortical bone." [HPO:curators]
xref: UMLS:C4025145
is_a: HP:0003103 ! Abnormal cortical bone morphology

[Term]
id: HP:0005733
name: Spinal stenosis with reduced interpedicular distance
alt_id: HP:0004597
def: "An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging)." [HPO:probinson]
comment: The pedicles are two short, thick processes that connect the body of the vertebrae to the arch.
synonym: "Spinal stenosis due to short pedicles" EXACT []
xref: UMLS:C4021625
is_a: HP:0003416 ! Spinal canal stenosis

[Term]
id: HP:0005736
name: Short tibia
alt_id: HP:0002993
def: "Underdevelopment (reduced size) of the tibia." [HPO:probinson]
synonym: "Hypoplasia of the tibia" EXACT []
synonym: "Hypoplastic tibia" EXACT []
synonym: "Short shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short skankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short tibiae" EXACT []
xref: UMLS:C1850259
is_a: HP:0003026 ! Short long bone
is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia

[Term]
id: HP:0005739
name: Posterior subluxation of radial head
def: "Partial dislocation of the head of the radius in the posterior direction." [HPO:curators]
xref: UMLS:C3149878
is_a: HP:0003048 ! Radial head subluxation

[Term]
id: HP:0005743
name: Avascular necrosis of the capital femoral epiphysis
alt_id: HP:0003280
alt_id: HP:0006448
alt_id: HP:0010887
def: "Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature." [HPO:probinson, PMID:29481348, PMID:30020602]
comment: In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh.
synonym: "Coxa plana" RELATED []
synonym: "Legg-Calve-Perthes syndrome" RELATED []
synonym: "Legg-Perthes disease" RELATED []
synonym: "Morbus Legg-Calve-Perthes" RELATED []
synonym: "Osteochondrosis of the femoral head" EXACT []
synonym: "Osteonecrosis of the femoral head" EXACT []
synonym: "Perthes-like femoral head changes" EXACT []
xref: ICD-10:M91.1
xref: MSH:D007873
xref: SNOMEDCT_US:111255008
xref: SNOMEDCT_US:240241003
xref: UMLS:C0023234
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0100323 ! Juvenile aseptic necrosis

[Term]
id: HP:0005744
name: obsolete Generalized osteoporosis with pathologic fractures
is_obsolete: true
replaced_by: HP:0040160

[Term]
id: HP:0005745
name: Congenital foot contractures
xref: UMLS:C4025144
is_a: HP:0002803 ! Congenital contracture
is_a: HP:0005750 ! Contractures of the joints of the lower limbs

[Term]
id: HP:0005746
name: Osteosclerosis of the base of the skull
def: "An increase in bone density affecting the basicranium (base of the skull)." [HPO:probinson]
comment: Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull.
synonym: "Osteosclerosis of the skull base" EXACT []
xref: UMLS:C4021624
is_a: HP:0005464 ! Craniofacial osteosclerosis

[Term]
id: HP:0005747
name: Easily subluxated first metacarpophalangeal joints
xref: UMLS:C4025143
is_a: HP:0004294 ! Subluxation of metacarpal phalangeal joints

[Term]
id: HP:0005750
name: Contractures of the joints of the lower limbs
synonym: "Contractures, lower limbs" EXACT []
xref: UMLS:C1859523
is_a: HP:0003121 ! Limb joint contracture

[Term]
id: HP:0005752
name: Flattened moderately deformed vertebrae
xref: UMLS:C4025142
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0005756
name: Neonatal epiphyseal stippling
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period." [HPO:probinson]
synonym: "Epiphyseal stippling in neonates" EXACT []
synonym: "Speckled calcifications in bone end parts in neonates" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021623
is_a: HP:0010655 ! Epiphyseal stippling

[Term]
id: HP:0005758
name: Basilar impression
def: "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum." [HPO:probinson, pmid:10084535]
xref: MSH:D010985
xref: SNOMEDCT_US:86587003
xref: UMLS:C0032209
is_a: HP:0000932 ! Abnormality of the posterior cranial fossa

[Term]
id: HP:0005759
name: Small flat posterior fossa
def: "An abnormally small and flat configuration of the posterior cranial fossa." [HPO:curators]
synonym: "Small and flat posterior fossa of skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small and flat posterior skull bones" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025141
is_a: HP:0040010 ! Small posterior fossa
is_a: HP:0040011 ! Flat posterior fossa

[Term]
id: HP:0005764
name: Polyarticular arthritis
xref: MSH:D001168
xref: SNOMEDCT_US:416956002
xref: SNOMEDCT_US:417373000
xref: UMLS:C0162323
is_a: HP:0005195 ! Polyarticular arthropathy

[Term]
id: HP:0005765
name: Sacral meningocele
xref: SNOMEDCT_US:95478002
xref: UMLS:C0521556
is_a: HP:0005107 ! Abnormal sacrum morphology

[Term]
id: HP:0005766
name: Disproportionate shortening of the tibia
synonym: "Disproportionate shortening of the shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Disproportionate shortening of the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3806516
is_a: HP:0005736 ! Short tibia

[Term]
id: HP:0005767
name: 1-2 toe complete cutaneous syndactyly
synonym: "Webbed 1st-2nd toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025140
is_a: HP:0010621 ! Cutaneous syndactyly of toes

[Term]
id: HP:0005768
name: 2-4 toe cutaneous syndactyly
def: "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4." [HPO:probinson]
synonym: "Soft tissue syndactyly of toes 2, 3, and 4" EXACT []
synonym: "Webbed 2nd, 3rd and 4th toes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Webbed second, third and fourth toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021622
is_a: HP:0010621 ! Cutaneous syndactyly of toes

[Term]
id: HP:0005769
name: Fifth finger distal phalanx clinodactyly
def: "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger)." [HPO:probinson]
synonym: "Curvature of outermost bone of little finger" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Curvature of outermost bone of pinkie finger" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Curvature of outermost bone of pinky finger" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025139
xref: UMLS:C4280477
is_a: HP:0004209 ! Clinodactyly of the 5th finger
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger

[Term]
id: HP:0005772
name: Aplasia/Hypoplasia of the tibia
def: "Absence or underdevelopment of the tibia." [HPO:curators]
synonym: "Absent/hypoplastic tibia" EXACT []
synonym: "Absent/small shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic tibia" EXACT []
xref: UMLS:C1969181
is_a: HP:0002992 ! Abnormality of tibia morphology
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs

[Term]
id: HP:0005773
name: Short forearm
def: "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm." [HPO:probinson]
synonym: "Short forearm" EXACT layperson []
xref: UMLS:C1855299
is_a: HP:0009821 ! Forearm undergrowth

[Term]
id: HP:0005775
name: Multiple skeletal anomalies
xref: UMLS:C4025138
is_a: HP:0002652 ! Skeletal dysplasia

[Term]
id: HP:0005776
name: Carpal bone malsegmentation
xref: UMLS:C4025137
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0005780
name: Absent fourth finger distal interphalangeal crease
def: "Absence of the distal interphalangeal flexion creases of the fourth finger." [HPO:probinson]
synonym: "No fourth finger distal interphalangeal crease" EXACT []
xref: UMLS:C4021621
is_a: HP:0001032 ! Absent distal interphalangeal creases

[Term]
id: HP:0005781
name: Contractures of the large joints
xref: UMLS:C1859698
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0005787
name: Lumbar platyspondyly
alt_id: HP:0004588
def: "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine." [HPO:probinson]
xref: UMLS:C4025136
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0005788
name: Abnormal cervical myelogram
xref: UMLS:C4025135
is_a: HP:0002318 ! Cervical myelopathy

[Term]
id: HP:0005789
name: Generalized osteosclerosis
alt_id: HP:0005805
def: "An abnormal increase of bone mineral density with generalized involvement of the skeleton." [HPO:probinson]
synonym: "Diffuse, symmetrical osteosclerosis" EXACT []
synonym: "Increased bone density in skeletal bones" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Osteosclerosis, diffuse symmetrical" EXACT []
xref: UMLS:C1843331
xref: UMLS:C4280476
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0005790
name: Short mandibular condyles
synonym: "Bilateral hypoplasia of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral hypoplasia of mandibular condylar head" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Bilateral hypoplasia of mandibular condylar neck" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Decreased height of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased length of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Short condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Short condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Short condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025134
xref: UMLS:C4280474
xref: UMLS:C4280475
is_a: HP:0003778 ! Short mandibular rami
is_a: HP:3000077 ! Abnormal mandible condylar process morphology

[Term]
id: HP:0005791
name: Cortical thickening of long bone diaphyses
def: "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators]
xref: UMLS:C4025133
is_a: HP:0000935 ! Thickened cortex of long bones
is_a: HP:0000940 ! Abnormal diaphysis morphology

[Term]
id: HP:0005792
name: Short humerus
alt_id: HP:0002989
alt_id: HP:0003014
alt_id: HP:0003064
alt_id: HP:0006419
alt_id: HP:0006464
alt_id: HP:0006468
def: "Underdevelopment of the humerus." [HPO:probinson]
subset: hposlim_core
synonym: "Humeral hypoplasia" EXACT []
synonym: "Humeral shortening" EXACT []
synonym: "Hypoplastic humerus" EXACT []
synonym: "Short humeri" EXACT []
synonym: "Short humerus" EXACT layperson []
synonym: "Short long bone of upper arm" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Short upper arms" EXACT layperson []
xref: UMLS:C1832117
is_a: HP:0003026 ! Short long bone
is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus

[Term]
id: HP:0005793
name: Shortening of all distal phalanges of the toes
def: "Abnormally short distal phalanx of toe of all toes." [HPO:probinson]
synonym: "Shortening of all outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025132
is_a: HP:0001857 ! Short distal phalanx of toe

[Term]
id: HP:0005794
name: obsolete Arterial disease of legs
is_obsolete: true
replaced_by: HP:0004950

[Term]
id: HP:0005798
name: Posterior radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction." [HPO:probinson]
xref: MSH:C566728
xref: UMLS:C1867398
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005802
name: Coalescence of tarsal bones
xref: UMLS:C4025130
is_a: HP:0008368 ! Tarsal synostosis

[Term]
id: HP:0005807
name: Absent distal phalanges
def: "Aplasia (absence) of the distal phalanges." [HPO:curators]
synonym: "Absent outermost digital bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861339
is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand

[Term]
id: HP:0005815
name: Supernumerary ribs
alt_id: HP:0000901
def: "The presence of more than 12 rib pairs." [HPO:probinson]
subset: hposlim_core
synonym: "Extra ribs" EXACT layperson []
xref: SNOMEDCT_US:205460009
xref: UMLS:C0345397
is_a: HP:0000772 ! Abnormality of the ribs
is_a: HP:0009144 ! Supernumerary bones of the axial skeleton

[Term]
id: HP:0005817
name: Postaxial polysyndactyly of foot
def: "Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe)." [HPO:probinson]
xref: UMLS:C4021824
is_a: HP:0001830 ! Postaxial foot polydactyly

[Term]
id: HP:0005819
name: Short middle phalanx of finger
alt_id: HP:0001208
alt_id: HP:0006068
alt_id: HP:0006081
alt_id: HP:0010240
def: "Short (hypoplastic) middle phalanx of finger, affecting one or more fingers." [HPO:probinson]
synonym: "Brachymesophalangy" EXACT []
synonym: "Hypoplasia of the middle phalanges of the hand" EXACT []
synonym: "Hypoplastic middle phalanges" EXACT []
synonym: "Hypoplastic middle phalanx" EXACT []
synonym: "Midphalangeal hypoplasia" EXACT []
synonym: "Short middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle phalanges" EXACT []
xref: UMLS:C1846950
is_a: HP:0009381 ! Short finger
is_a: HP:0009803 ! Short phalanx of finger
is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand

[Term]
id: HP:0005820
name: Superior rib anomalies
xref: UMLS:C4025129
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0005824
name: Clinodactyly of the 2nd toe
def: "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson]
synonym: "Clinodactyly of second toes" EXACT []
synonym: "Curvature of 2nd toe" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021620
xref: UMLS:C4280473
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010326 ! Deviation of the 2nd toe

[Term]
id: HP:0005825
name: Mixed sclerosis of humeral metaphyses
xref: UMLS:C4025128
is_a: HP:0003918 ! Sclerotic humeral metaphysis

[Term]
id: HP:0005828
name: Transient pulmonary infiltrates
xref: UMLS:C3805920
is_a: HP:0002113 ! Pulmonary infiltrates

[Term]
id: HP:0005829
name: Maldevelopment of radioulnar joint
xref: UMLS:C3149879
is_a: HP:0003059 ! Abnormality of the radioulnar joints

[Term]
id: HP:0005830
name: Flexion contracture of toe
alt_id: HP:0001860
alt_id: HP:0008128
alt_id: HP:0008367
alt_id: HP:0200027
def: "One or more bent (flexed) toe joints that cannot be straightened actively or passively." [HPO:probinson]
synonym: "Contractures involving the toes" EXACT []
synonym: "Contractures of the toes" EXACT []
synonym: "Toe contractures" EXACT []
xref: UMLS:C1406835
is_a: HP:0001780 ! Abnormality of toe
is_a: HP:0008366 ! Contractures involving the joints of the feet
is_a: HP:0030044 ! Flexion contracture of digit
is_a: HP:0100492 ! Joint contractures involving the joints of the feet

[Term]
id: HP:0005831
name: Type B brachydactyly
xref: MSH:C566196
xref: UMLS:C1862112
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0005832
name: Dysharmonic delayed bone age
alt_id: HP:0005840
def: "A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones." [HPO:probinson]
xref: UMLS:C1859444
is_a: HP:0002750 ! Delayed skeletal maturation
is_a: HP:0200000 ! Dysharmonic bone age

[Term]
id: HP:0005833
name: obsolete Joint swelling onset late infancy
is_obsolete: true
consider: HP:0001386

[Term]
id: HP:0005834
name: obsolete Thumbs hypo/aplastic
is_obsolete: true
replaced_by: HP:0009658

[Term]
id: HP:0005837
name: obsolete Joint dislocations in young adult
is_obsolete: true
replaced_by: HP:0001373

[Term]
id: HP:0005841
name: Calcific stippling of infantile cartilaginous skeleton
xref: UMLS:C1859135
is_a: HP:0003336 ! Abnormal enchondral ossification

[Term]
id: HP:0005844
name: Rounded middle phalanx of finger
def: "An abnormally round shape of the middle phalanx of the finger." [HPO:probinson]
synonym: "Rounded middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025126
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand

[Term]
id: HP:0005848
name: Bifid thumb distal phalanx
def: "Cleft (split into two parts) distal phalanx of thumb." [HPO:probinson]
synonym: "Notched outermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1860162
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb

[Term]
id: HP:0005849
name: Diffuse cerebral calcification
def: "Generalized deposition of calcium salts within the brain." [HPO:probinson]
xref: UMLS:C4025125
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0005850
name: Congenital talipes calcaneovalgus
xref: MSH:D005413
xref: SNOMEDCT_US:205083002
xref: SNOMEDCT_US:31668003
xref: UMLS:C0152237
is_a: HP:0001884 ! Talipes calcaneovalgus

[Term]
id: HP:0005852
name: Limited elbow extension and supination
xref: UMLS:C4025124
is_a: HP:0001377 ! Limited elbow extension

[Term]
id: HP:0005853
name: Congenital foot contraction deformities
xref: UMLS:C4025123
is_a: HP:0002803 ! Congenital contracture

[Term]
id: HP:0005855
name: Multiple prenatal fractures
alt_id: HP:0002811
alt_id: HP:0005761
def: "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [HPO:curators]
synonym: "Congenital bone fractures" EXACT []
synonym: "Multiple fractures present at birth" EXACT layperson []
synonym: "Multiple fractures, present at birth" EXACT layperson []
synonym: "Numerous multiple fractures present at birth" EXACT layperson []
synonym: "Numerous multiple fractures that are present at birth" EXACT layperson []
xref: UMLS:C1853171
is_a: HP:0002659 ! Increased susceptibility to fractures

[Term]
id: HP:0005856
name: Ulnar radial head dislocation
def: "A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction." [HPO:probinson]
synonym: "Ulnar dislocation of radial heads" EXACT []
xref: UMLS:C4021619
is_a: HP:0003083 ! Dislocated radial head

[Term]
id: HP:0005857
name: Cervical spina bifida
xref: SNOMEDCT_US:32232003
xref: UMLS:C0266501
is_a: HP:0002414 ! Spina bifida

[Term]
id: HP:0005863
name: Type E brachydactyly
alt_id: HP:0006115
def: "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals." [HPO:probinson]
xref: MSH:C566194
xref: UMLS:C1862102
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0005864
name: Pseudoarthrosis
def: "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\")." [HPO:probinson]
synonym: "Pseudoarthroses" EXACT []
xref: MSH:D011542
xref: SNOMEDCT_US:31511007
xref: SNOMEDCT_US:410818009
xref: UMLS:C0033785
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0005866
name: Opposable triphalangeal thumb
def: "A form of triphalangeal thumb that can be placed opposite the fingers of the same hand." [HPO:probinson]
xref: UMLS:C4025122
is_a: HP:0001199 ! Triphalangeal thumb

[Term]
id: HP:0005867
name: Fused fourth and fifth metacarpals
synonym: "Fused 4th-5th long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused 4th-5th metacarpals" EXACT []
xref: UMLS:C1859768
is_a: HP:0009707 ! Synostosis involving the 4th metacarpal

[Term]
id: HP:0005868
name: Metaphyseal enchondromatosis
def: "An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins." [HPO:probinson, pmid:20661403]
xref: UMLS:C4025121
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0005871
name: Metaphyseal chondrodysplasia
alt_id: HP:0006377
def: "An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae." [HPO:probinson, pmid:335375]
comment: The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred.
xref: SNOMEDCT_US:28681006
xref: UMLS:C0265290
is_a: HP:0100255 ! Metaphyseal dysplasia

[Term]
id: HP:0005872
name: Brachytelomesophalangy
alt_id: HP:0005777
alt_id: HP:0006093
def: "Disproportionately short middle and distal phalanges compared to the hand/foot." [HPO:probinson]
synonym: "Progressive brachydactyly of middle and distal phalanges" EXACT []
synonym: "Short middle and distal phalanges of digits ii through v" EXACT []
xref: UMLS:C1847408
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0005873
name: Polysyndactyly of hallux
def: "Combined syndactyly and polydactyly of the great toe." [HPO:probinson]
synonym: "Polysyndactyly of big toe" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Polysyndactyly of great toe" EXACT []
xref: UMLS:C4021618
is_a: HP:0001841 ! Preaxial foot polydactyly

[Term]
id: HP:0005875
name: Increased dermatoglyphic whorls
xref: UMLS:C4025120
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0005876
name: Progressive flexion contractures
def: "Progressively worsening joint contractures." [HPO:probinson]
synonym: "Joint contractures, progressive" EXACT []
xref: UMLS:C3279322
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0005877
name: Multiple small vertebral fractures
xref: UMLS:C4025119
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0005878
name: Enlarged sagittal diameter of the cervical canal
xref: UMLS:C4025118
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0005879
name: Congenital finger flexion contractures
def: "Multiple bent (flexed) finger joints that cannot be straightened actively or passively." [HPO:probinson]
synonym: "Congenital finger contractures" EXACT []
xref: UMLS:C1393871
is_a: HP:0002803 ! Congenital contracture
is_a: HP:0100490 ! Camptodactyly of finger

[Term]
id: HP:0005880
name: Metacarpophalangeal synostosis
alt_id: HP:0100325
def: "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint." [HPO:probinson]
synonym: "Fused long bone of hand with innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025117
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint

[Term]
id: HP:0005881
name: Spinal instability
xref: SNOMEDCT_US:240220009
xref: UMLS:C0410648
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0005882
name: Dermatoglyphic variants
xref: UMLS:C4025116
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0005885
name: Absent ossification of cervical vertebral bodies
def: "A lack of bone mineralization of one or more body of cervical vertebra." [HPO:probinson]
xref: UMLS:C4025115
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies

[Term]
id: HP:0005886
name: Aphalangy of the hands
def: "Absence of a digit or of one or more phalanges of a finger." [HPO:probinson]
xref: UMLS:C4025114
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand

[Term]
id: HP:0005890
name: Hyperostosis cranialis interna
def: "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull." [HPO:probinson]
synonym: "Enlargement of the inner surface of the skull bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Excessive growth of inner surface of the skull bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of the internal surface of the cranial bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperostosis of the internal surface of the cranial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of the internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased ossification of the internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of the inner surface of the skull bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of the inside of the skull" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick inner surface of the skull bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463]
xref: MSH:C564168
xref: UMLS:C1840404
xref: UMLS:C4280468
xref: UMLS:C4280469
xref: UMLS:C4280470
xref: UMLS:C4280471
xref: UMLS:C4280472
is_a: HP:0004437 ! Cranial hyperostosis

[Term]
id: HP:0005891
name: Progressive forearm bowing
def: "Progressive bending or abnormal curvature of the forearm skeleton." [HPO:probinson]
synonym: "Progressive forearm curvature" EXACT []
xref: UMLS:C3152020
is_a: HP:0003956 ! Bowed forearm bones
is_a: HP:0006383 ! Progressive bowing of long bones

[Term]
id: HP:0005892
name: Proximal tibial and fibular fusion
synonym: "Fusion of innermost shinbone and calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025113
is_a: HP:0005928 ! Synostosis involving the fibula
is_a: HP:0005929 ! Synostosis involving the tibia

[Term]
id: HP:0005894
name: Double first metacarpals
def: "Duplication of the metacarpal I bones." [HPO:curators]
synonym: "Double 1st long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025112
is_a: HP:0005917 ! Supernumerary metacarpal bones

[Term]
id: HP:0005895
name: Radial deviation of thumb terminal phalanx
xref: UMLS:C4025111
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb

[Term]
id: HP:0005897
name: Severe generalized osteoporosis
alt_id: HP:0005838
def: "Severe degree of osteoporosis." [HPO:curators]
synonym: "Severe, generalized osteoporosis" EXACT []
xref: UMLS:C1859443
is_a: HP:0040160 ! Generalized osteoporosis

[Term]
id: HP:0005899
name: Metaphyseal dysostosis
def: "Abnormal mineralization of the metaphyseal area of bones." [HPO:probinson]
xref: SNOMEDCT_US:28681006
xref: UMLS:C0265290
is_a: HP:0000944 ! Abnormality of the metaphysis

[Term]
id: HP:0005900
name: Fifth metacarpal with ulnar notch
def: "Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger)." [HPO:probinson]
synonym: "Fifth metacarpal notched on ulnar side" EXACT []
xref: UMLS:C3276324
is_a: HP:0010013 ! Abnormality of the 5th metacarpal

[Term]
id: HP:0005901
name: obsolete Chronic recurrent multifocal osteomyelitis
is_obsolete: true
replaced_by: HP:0002754

[Term]
id: HP:0005905
name: Abnormal cervical curvature
def: "The presence of an abnormal curvature of the cervical vertebral column." [HPO:probinson]
synonym: "Abnormal neck curve" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C3151523
is_a: HP:0003319 ! Abnormality of the cervical spine
is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column

[Term]
id: HP:0005906
name: Delayed pneumatization of the mastoid process
def: "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [HPO:probinson]
subset: hposlim_core
synonym: "Mastoid processes poorly pneumatized" EXACT []
xref: UMLS:C4021617
is_a: HP:0000264 ! Abnormality of the mastoid

[Term]
id: HP:0005910
name: Rhomboid or triangular shaped 5th finger middle phalanx
def: "Rhomboid or triangular shaped 5th (little) finger middle phalanx." [HPO:curators]
synonym: "Rhomboid or triangular shaped fifth finger middle phalanx" EXACT []
xref: UMLS:C4021616
is_a: HP:0009182 ! Triangular shaped middle phalanx of the 5th finger

[Term]
id: HP:0005912
name: Biliary atresia
def: "Atresia of the biliary tree." [HPO:probinson]
synonym: "Biliary duct atresia" EXACT []
xref: MSH:D001656
xref: SNOMEDCT_US:77480004
xref: SNOMEDCT_US:82821008
xref: UMLS:C0005411
is_a: HP:0012440 ! Abnormal biliary tract morphology
created_by: peter
creation_date: 2008-03-27T02:07:00Z

[Term]
id: HP:0005913
name: Abnormality of metacarpal epiphyses
synonym: "Abnormality of end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025110
is_a: HP:0001163 ! Abnormality of the metacarpal bones
is_a: HP:0005924 ! Abnormality of the epiphyses of the hand
created_by: peter
creation_date: 2008-03-27T02:13:00Z

[Term]
id: HP:0005914
name: Aplasia/Hypoplasia involving the metacarpal bones
alt_id: HP:0006007
def: "Aplasia or Hypoplasia affecting the metacarpal bones." [HPO:curators]
synonym: "Absent or hypoplastic metacarpals" EXACT []
synonym: "Absent/small long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic metacarpals" EXACT []
synonym: "Hypoplastic metacarpals" EXACT []
synonym: "Hypoplastic/absent metacarpal bones" EXACT []
synonym: "Hypoplastic/absent metacarpals" EXACT []
synonym: "Metacarpal aplasia/hypoplasia" EXACT []
xref: UMLS:C1836192
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
created_by: peter
creation_date: 2008-03-27T02:14:00Z

[Term]
id: HP:0005916
name: Abnormal metacarpal morphology
alt_id: HP:0010556
def: "Irregularly shaped metacarpal bones of varying degree." [HPO:curators]
synonym: "Abnormal shape of long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal shape of metacarpal bones" EXACT []
xref: UMLS:C4021615
is_a: HP:0001163 ! Abnormality of the metacarpal bones
is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs
created_by: peter
creation_date: 2008-03-27T02:17:00Z

[Term]
id: HP:0005917
name: Supernumerary metacarpal bones
def: "The presence of more than the normal number of metacarpal bones." [HPO:curators]
synonym: "Extra long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:91846008
xref: UMLS:C0545617
is_a: HP:0001163 ! Abnormality of the metacarpal bones
created_by: peter
creation_date: 2008-03-27T02:18:00Z

[Term]
id: HP:0005918
name: Abnormal finger phalanx morphology
alt_id: HP:0005786
alt_id: HP:0006259
def: "Abnormalities affecting the phalanx of finger." [HPO:probinson]
comment: This category is a supercategory for abnormalties affect phalanges of the hand.
synonym: "Abnormal form of phalanges of the hand" EXACT []
synonym: "Abnormality of phalanx of finger" EXACT []
synonym: "Abnormality of the finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the phalanges" EXACT []
synonym: "Abnormality of the phalanges of the hand" EXACT []
xref: UMLS:C4021614
is_a: HP:0001167 ! Abnormality of finger
created_by: peter
creation_date: 2008-03-27T02:19:00Z

[Term]
id: HP:0005920
name: Abnormal epiphysis morphology of the phalanges of the hand
alt_id: HP:0009151
def: "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators]
synonym: "Abnormality of the end part of the hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the epiphyses of the fingers" EXACT []
synonym: "Abnormality of the epiphyses of the phalanges of the hand" EXACT []
xref: UMLS:C4021613
is_a: HP:0005918 ! Abnormal finger phalanx morphology
is_a: HP:0005924 ! Abnormality of the epiphyses of the hand
created_by: peter
creation_date: 2008-03-27T02:21:00Z

[Term]
id: HP:0005921
name: obsolete Abnormal ossification of hand bones
is_obsolete: true
replaced_by: HP:0010660

[Term]
id: HP:0005922
name: Abnormal hand morphology
alt_id: HP:0003098
def: "Any structural anomaly of the hand." [HPO:probinson]
comment: This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions.
synonym: "Abnormal shape of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025109
is_a: HP:0001155 ! Abnormality of the hand
created_by: peter
creation_date: 2008-03-27T02:25:00Z

[Term]
id: HP:0005923
name: Abnormalities of the metaphyses of the hand
synonym: "Abnormality of the wide portion of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025108
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0009809 ! Abnormality of upper limb metaphysis
created_by: peter
creation_date: 2008-03-27T02:27:00Z

[Term]
id: HP:0005924
name: Abnormality of the epiphyses of the hand
def: "Any abnormality of the epiphyses of the phalanges or metacarpal bones." [HPO:curators]
synonym: "Abnormality of the end part of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025107
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology
created_by: peter
creation_date: 2008-03-27T02:28:00Z

[Term]
id: HP:0005925
name: Abnormalities of the diaphyses of the hand
synonym: "Abnormalities of shaft of long bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025106
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0009808 ! Anomaly of the upper limb diaphyses
created_by: peter
creation_date: 2008-03-27T02:28:00Z

[Term]
id: HP:0005926
name: Abnormality of hand cortical bone
def: "An anomaly of the outer shell (cortex) of a hand bone." []
synonym: "Abnormality of the cortex of hand bones" EXACT []
xref: UMLS:C4025105
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0003103 ! Abnormal cortical bone morphology
created_by: peter
creation_date: 2008-03-27T02:29:00Z

[Term]
id: HP:0005927
name: Aplasia/hypoplasia involving bones of the hand
def: "Absence (due to failure to form) or underdevelopment of the bones of the hand." [HPO:probinson]
synonym: "Absent/small hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypoplasia/absence of hand bones" EXACT []
xref: UMLS:C4021612
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
created_by: peter
creation_date: 2008-03-27T02:29:00Z

[Term]
id: HP:0005928
name: Synostosis involving the fibula
synonym: "Bone fusion involving the calf bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025104
is_a: HP:0002991 ! Abnormality of fibula morphology
is_a: HP:0009138 ! Synostosis involving bones of the lower limbs
created_by: peter
creation_date: 2008-03-27T02:34:00Z

[Term]
id: HP:0005929
name: Synostosis involving the tibia
synonym: "Bone fusion involving the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025103
is_a: HP:0002992 ! Abnormality of tibia morphology
is_a: HP:0009138 ! Synostosis involving bones of the lower limbs
created_by: peter
creation_date: 2008-03-27T02:34:00Z

[Term]
id: HP:0005930
name: Abnormality of epiphysis morphology
alt_id: HP:0000936
def: "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk." [HPO:probinson]
synonym: "Abnormal shape of end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the epiphyses" EXACT []
synonym: "Anomaly of the epiphyses" EXACT []
synonym: "Epiphyseal abnormality" EXACT []
xref: UMLS:C4021611
is_a: HP:0011314 ! Abnormality of long bone morphology
created_by: peter
creation_date: 2008-03-27T03:00:00Z

[Term]
id: HP:0005932
name: Abnormal renal corticomedullary differentiation
def: "An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla." [HPO:probinson]
comment: On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection.
xref: UMLS:C4025102
is_a: HP:0011035 ! Abnormal renal cortex morphology
is_a: HP:0100957 ! Abnormal renal medulla morphology
created_by: peter
creation_date: 2008-03-27T03:21:00Z

[Term]
id: HP:0005934
name: Imperfect vocal cord adduction
xref: UMLS:C4025101
is_a: HP:0031801 ! Vocal cord dysfunction

[Term]
id: HP:0005938
name: Abnormal respiratory motile cilium morphology
def: "Abnormal arrangement of the structures of the motile cilium." [HPO:probinson, MP:0011050]
xref: UMLS:C4025100
is_a: HP:0012253 ! Abnormal respiratory epithelium morphology

[Term]
id: HP:0005939
name: Multiple bilateral pneumothoraces
xref: UMLS:C4025099
is_a: HP:0002107 ! Pneumothorax

[Term]
id: HP:0005941
name: Intermittent hyperpnea at rest
xref: UMLS:C4025098
is_a: HP:0004879 ! Intermittent hyperventilation

[Term]
id: HP:0005942
name: Desquamative interstitial pneumonitis
xref: MSH:C562470
xref: SNOMEDCT_US:8549006
xref: UMLS:C0238378
is_a: HP:0006530 ! Interstitial pulmonary abnormality

[Term]
id: HP:0005943
name: Respiratory arrest
synonym: "Breathing cessation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:87317003
xref: UMLS:C0162297
is_a: HP:0002093 ! Respiratory insufficiency

[Term]
id: HP:0005944
name: Bilateral lung agenesis
alt_id: HP:0006550
def: "Bilateral lack of development of the lungs." [HPO:probinson]
synonym: "Absent lungs" EXACT layperson []
synonym: "Bilateral pulmonary agenesis" EXACT []
xref: Fyler:4206
xref: UMLS:C4021610
is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs

[Term]
id: HP:0005945
name: Laryngeal obstruction
def: "Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress." [HPO:probinson]
xref: SNOMEDCT_US:61169001
xref: UMLS:C0264306
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0005946
name: Ventilator dependence with inability to wean
xref: UMLS:C4025097
is_a: HP:0004887 ! Respiratory failure requiring assisted ventilation

[Term]
id: HP:0005947
name: Decreased sensitivity to hypoxemia
def: "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration." [HPO:probinson]
comment: Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood).
synonym: "Decreased sensitivity to hypoxaemia" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Decreased sensitivity to hypoxemia" EXACT layperson []
xref: UMLS:C3806286
is_a: HP:0005957 ! Breathing dysregulation

[Term]
id: HP:0005948
name: Multiple pulmonary cysts
def: "The presence of multiple lung cysts." [PMID:20028879]
comment: Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH.
synonym: "Cystic lung disease" EXACT []
synonym: "Multiple lung cysts" EXACT []
xref: MSH:C563237
xref: UMLS:C1384901
is_a: HP:0032445 ! Pulmonary cyst

[Term]
id: HP:0005949
name: Apneic episodes in infancy
def: "Recurrent episodes of apnea occurring during infancy." [HPO:curators]
xref: UMLS:C3807980
is_a: HP:0002104 ! Apnea

[Term]
id: HP:0005950
name: Laryngeal web
def: "A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [HPO:probinson]
comment: Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry).
synonym: "Laryngeal webs" EXACT [HPO:skoehler]
synonym: "Partial laryngeal atresia" EXACT []
xref: SNOMEDCT_US:297159008
xref: UMLS:C0281890
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0005951
name: Progressive inspiratory stridor
xref: UMLS:C4025096
is_a: HP:0005348 ! Inspiratory stridor

[Term]
id: HP:0005952
name: Decreased pulmonary function
synonym: "Decreased lung function" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Impaired lung function" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Impaired pulmonary function" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D012131
xref: SNOMEDCT_US:80954004
xref: UMLS:C0235063
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0005954
name: Pulmonary capillary hemangiomatosis
synonym: "Pulmonary hemangiomas" EXACT []
xref: SNOMEDCT_US:233949008
xref: UMLS:C0340548
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature
is_a: HP:0005306 ! Capillary hemangioma
is_a: HP:0007461 ! Hemangiomatosis

[Term]
id: HP:0005956
name: Anteroposteriorly shortened larynx
def: "Abnormal shortening of the larynx in the anteroposterior (front to back) axis." [HPO:probinson]
xref: UMLS:C3805994
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0005957
name: Breathing dysregulation
synonym: "Abnormal breathing" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Breathing difficulty" EXACT layperson []
synonym: "Difficult to breathe" EXACT layperson []
xref: UMLS:C3808046
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0005959
name: Impaired gluconeogenesis
def: "An impairment of gluconeogenesis." [HPO:gcarletti]
synonym: "Gluconeogenesis impaired" EXACT []
xref: UMLS:C3279336
is_a: HP:0011014 ! Abnormal glucose homeostasis

[Term]
id: HP:0005961
name: Hypoargininemia
def: "A decreased concentration of arginine in the blood." [HPO:gcarletti]
synonym: "Arginine deficiency" RELATED []
synonym: "Low blood arginine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859735
xref: UMLS:C4025095
is_a: HP:0010909 ! Abnormal circulating arginine concentration

[Term]
id: HP:0005964
name: Intermittent hypothermia
alt_id: HP:0005970
def: "Episodes of reduced body termperature." [HPO:probinson]
synonym: "Intermittent abnormally low body temperature" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Intermittent hypothermia" EXACT layperson []
xref: UMLS:C1837639
is_a: HP:0002045 ! Hypothermia

[Term]
id: HP:0005967
name: Mixed respiratory and metabolic acidosis
xref: UMLS:C1840372
is_a: HP:0001942 ! Metabolic acidosis

[Term]
id: HP:0005968
name: Temperature instability
def: "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature." [HPO:curators]
synonym: "Body temperature instability" RELATED layperson [HPO:skoehler]
synonym: "Temperature instability" EXACT layperson []
xref: UMLS:C1820737
xref: UMLS:C3279038
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0005972
name: Respiratory acidosis
def: "Acidosis because of respiratory retention of carbon dioxide." [HPO:probinson]
xref: MSH:D000142
xref: SNOMEDCT_US:12326000
xref: UMLS:C0001127
is_a: HP:0001941 ! Acidosis

[Term]
id: HP:0005973
name: Fructose intolerance
xref: MSH:D005633
xref: SNOMEDCT_US:20052008
xref: UMLS:C0016751
is_a: HP:0011033 ! Impairment of fructose metabolism

[Term]
id: HP:0005974
name: Episodic ketoacidosis
alt_id: HP:0005981
alt_id: HP:0005983
def: "Intermittent episodes of ketoacidosis." [HPO:probinson]
synonym: "Ketoacidosis, episodic" EXACT []
xref: UMLS:C1859860
is_a: HP:0001993 ! Ketoacidosis

[Term]
id: HP:0005976
name: Hyperkalemic metabolic acidosis
xref: UMLS:C1865880
is_a: HP:0001942 ! Metabolic acidosis

[Term]
id: HP:0005977
name: Hypochloremic metabolic alkalosis
xref: UMLS:C0740895
is_a: HP:0001948 ! Alkalosis

[Term]
id: HP:0005978
name: Type II diabetes mellitus
alt_id: HP:0005965
alt_id: HP:0100652
def: "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [HPO:probinson]
comment: Persons with type II diabetes mellitus rarely develop ketoacidosis.
synonym: "Diabetes mellitus type 2" RELATED []
synonym: "Diabetes mellitus Type II" EXACT []
synonym: "Diabetes mellitus, noninsulin-dependent" EXACT []
synonym: "NIDDM" EXACT HP:0045077 [HPO:skoehler]
synonym: "NIDDM diabetes mellitus" EXACT []
synonym: "Non-insulin dependent diabetes" EXACT []
synonym: "Noninsulin dependent diabetes mellitus" EXACT []
synonym: "Noninsulin-dependent diabetes" EXACT layperson []
synonym: "Noninsulin-dependent diabetes mellitus" RELATED []
synonym: "Type 2 diabetes" EXACT layperson []
synonym: "Type II diabetes" EXACT layperson []
xref: MSH:D003924
xref: SNOMEDCT_US:44054006
xref: UMLS:C0011860
is_a: HP:0000819 ! Diabetes mellitus

[Term]
id: HP:0005979
name: Metabolic ketoacidosis
alt_id: HP:0005971
xref: MSH:D007662
xref: UMLS:C1854704
is_a: HP:0001942 ! Metabolic acidosis
is_a: HP:0001993 ! Ketoacidosis

[Term]
id: HP:0005982
name: Reduced phenylalanine hydroxylase activity
def: "A reduction in phenylalanine 4-monooxygenase activity." [HPO:probinson]
synonym: "Phenylalanine hydroxylase deficiency" RELATED []
xref: MSH:D010661
xref: SNOMEDCT_US:7573000
xref: UMLS:C0751434
xref: UMLS:C4025094
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0005984
name: Elevated maternal serum alpha-fetoprotein
def: "An elevation of alpha-feto protein in the maternal serum." [HPO:curators]
xref: UMLS:C0740927
is_a: HP:0006254 ! Elevated alpha-fetoprotein

[Term]
id: HP:0005986
name: Limitation of neck motion
synonym: "Limitation of neck motion" EXACT layperson []
synonym: "Limited neck mobility" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Restricted neck movement" EXACT []
xref: MSH:D009127
xref: SNOMEDCT_US:161882006
xref: SNOMEDCT_US:405947006
xref: UMLS:C0151315
xref: UMLS:C1320474
xref: UMLS:C1847392
is_a: HP:0000464 ! Abnormality of the neck

[Term]
id: HP:0005987
name: Multinodular goiter
def: "Enlargement of the thyroid gland related to multiple nodules in the thyroid gland." [DDD:spark]
xref: SNOMEDCT_US:237570007
xref: UMLS:C0342208
is_a: HP:0005994 ! Nodular goiter

[Term]
id: HP:0005988
name: Congenital muscular torticollis
def: "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending." [HPO:probinson]
comment: Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis.
synonym: "Torticollis, congenital" EXACT []
xref: MSH:C535425
xref: SNOMEDCT_US:268240006
xref: UMLS:C0079352
is_a: HP:0011006 ! Abnormality of the musculature of the neck

[Term]
id: HP:0005989
name: Redundant neck skin
alt_id: HP:0005993
alt_id: HP:0005996
def: "Excess skin around the neck, often lying in horizontal folds." [pmid:19125436]
comment: With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used.
synonym: "Excess neck skin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Excess skin over the neck" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Excessive nuchal skin" EXACT []
synonym: "Redundant neck skin" EXACT layperson []
synonym: "Redundant nuchal skin" EXACT []
synonym: "Redundant skin folds of neck" EXACT layperson []
synonym: "Redundant skin over the neck" EXACT layperson []
xref: UMLS:C1840319
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0001582 ! Redundant skin

[Term]
id: HP:0005990
name: Thyroid hypoplasia
def: "Developmental hypoplasia of the thyroid gland." [HPO:probinson]
synonym: "Hypoplastic thyroid" EXACT []
xref: MSH:D050033
xref: SNOMEDCT_US:367524008
xref: UMLS:C0151516
is_a: HP:0008188 ! Thyroid dysgenesis

[Term]
id: HP:0005991
name: Limited neck flexion
synonym: "Limited cervical flexion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Limited neck flexibility" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1864449
is_a: HP:0005986 ! Limitation of neck motion

[Term]
id: HP:0005994
name: Nodular goiter
def: "Enlargement of the thyroid gland related to one or more nodules in the thyroid gland." [HPO:probinson]
xref: MSH:D006044
xref: SNOMEDCT_US:419153005
xref: UMLS:C0018023
is_a: HP:0000853 ! Goiter

[Term]
id: HP:0005995
name: Decreased adipose tissue around neck
def: "Reduced amount of adipose tissue in the region of the neck." [HPO:probinson]
synonym: "Loss of adipose tissue around the neck" EXACT []
synonym: "Loss of fat around neck" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1837763
is_a: HP:0003758 ! Reduced subcutaneous adipose tissue

[Term]
id: HP:0005997
name: Restricted neck movement due to contractures
synonym: "Neck flexion contracture" EXACT []
synonym: "Restricted neck mobility due to contractures" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Restricted neck movement due to contractures" EXACT layperson []
xref: UMLS:C1867006
is_a: HP:0001371 ! Flexion contracture
is_a: HP:0005986 ! Limitation of neck motion

[Term]
id: HP:0005999
name: Ureteral atresia
def: "The presence of atretic ureter." [HPO:probinson]
xref: SNOMEDCT_US:204974003
xref: SNOMEDCT_US:49534003
xref: UMLS:C0266320
is_a: HP:0000069 ! Abnormality of the ureter

[Term]
id: HP:0006000
name: Ureteral obstruction
def: "Obstruction of the flow of urine through the ureter." [HPO:probinson]
xref: Fyler:4492
xref: MSH:D014517
xref: SNOMEDCT_US:20018005
xref: UMLS:C0041956
is_a: HP:0000069 ! Abnormality of the ureter

[Term]
id: HP:0006006
name: Hypotrophy of the small hand muscles
synonym: "Degeneration of small hand muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1843228
is_a: HP:0001421 ! Abnormality of the musculature of the hand

[Term]
id: HP:0006008
name: Unilateral brachydactyly
synonym: "Short digits on one side" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1868164
xref: UMLS:C4280467
is_a: HP:0001156 ! Brachydactyly

[Term]
id: HP:0006009
name: Broad phalanx
alt_id: HP:0006030
alt_id: HP:0006249
def: "Increased side-to-side width of one or more phalanges of the fingers or toes." [HPO:probinson]
synonym: "Broad phalanges" EXACT []
synonym: "Wide digital bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide phalanges" EXACT []
synonym: "Widened phalanges" EXACT []
xref: UMLS:C1855185
is_a: HP:0005622 ! Broad long bones
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0006011
name: Cuboidal metacarpal
def: "Severely shortened metacarpal with a cuboidal appearance." [HPO:probinson]
comment: The metacarpals are normally tubular in appearance.
synonym: "Short, cube shaped long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025093
is_a: HP:0010049 ! Short metacarpal

[Term]
id: HP:0006012
name: Widened metacarpal shaft
synonym: "Broad shaft of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1850159
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006014
name: Abnormally shaped carpal bones
synonym: "Abnormally shaped wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1860111
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0006016
name: Delayed phalangeal epiphyseal ossification
def: "Delay in the process of formation and maturation of the epiphysis of one or more phalanx." [HPO:probinson]
synonym: "Delayed bone maturation of end part of digital bone" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Delayed phalangeal epiphyseal bone maturation" EXACT []
xref: UMLS:C4021609
is_a: HP:0002663 ! Delayed epiphyseal ossification

[Term]
id: HP:0006019
name: Reduced proximal interphalangeal joint space
synonym: "Decreased space in hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861396
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006026
name: Rounded epiphyses
synonym: "Rounded end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1850632
is_a: HP:0005924 ! Abnormality of the epiphyses of the hand

[Term]
id: HP:0006028
name: Metaphyseal cupping of metacarpals
alt_id: HP:0006131
def: "Metaphyseal cupping affecting the metacarpal bones." [HPO:curators]
synonym: "Cupping of wide portion of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Metacarpal/metaphyseal cupping" EXACT []
xref: UMLS:C1855171
is_a: HP:0003021 ! Metaphyseal cupping

[Term]
id: HP:0006035
name: Cone-shaped epiphyses of phalanges 2 to 5
synonym: "Cone-shaped end part of digital bones 2 to 5" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1857005
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand

[Term]
id: HP:0006040
name: Long second metacarpal
synonym: "Long 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861531
is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal

[Term]
id: HP:0006042
name: Y-shaped metacarpals
def: "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly." [HPO:curators]
synonym: "Y-shaped long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861373
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006045
name: Short pointed phalanges
synonym: "Short pointed digital bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849740
is_a: HP:0009803 ! Short phalanx of finger

[Term]
id: HP:0006048
name: Distal widening of metacarpals
def: "Abnormal increase in width of the distal region of the metacarpal bones." [HPO:curators]
synonym: "Wide outermost end of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1865254
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006051
name: Metacarpal periosteal thickening
xref: UMLS:C1834347
is_a: HP:0001163 ! Abnormality of the metacarpal bones
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0006055
name: Ulnar deviated club hands
xref: UMLS:C1833881
is_a: HP:0009487 ! Ulnar deviation of the hand

[Term]
id: HP:0006059
name: Cone-shaped metacarpal epiphyses
def: "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators]
synonym: "Cone-shaped end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Metacarpal cone-shaped epiphyses" RELATED []
xref: UMLS:C1855239
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
is_a: HP:0010579 ! Cone-shaped epiphysis

[Term]
id: HP:0006060
name: Tombstone-shaped proximal phalanges
synonym: "Tombstone-shaped innermost digital bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1862420
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand

[Term]
id: HP:0006064
name: Limited interphalangeal movement
synonym: "Limited movement of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1840089
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006067
name: Multiple carpal ossification centers
def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones." [HPO:probinson]
xref: UMLS:C1835573
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0006069
name: Severe carpal ossification delay
synonym: "Severe delay in maturation of wrist bone" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1866703
xref: UMLS:C4280466
is_a: HP:0001216 ! Delayed ossification of carpal bones

[Term]
id: HP:0006070
name: Metacarpophalangeal joint contracture
alt_id: HP:0005674
def: "A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson]
comment: In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be researved for a painless flexion contracture of the proximal interphalangeal (PIP) joint.
synonym: "Metacarpal/phalangeal joint contractures" EXACT []
xref: UMLS:C2677209
is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint

[Term]
id: HP:0006077
name: Absent proximal finger flexion creases
def: "Absence of the proximal interphalangeal flexion creases of the fingers." [HPO:probinson]
xref: UMLS:C1850048
is_a: HP:0006109 ! Absent phalangeal crease

[Term]
id: HP:0006086
name: Thin metacarpal cortices
xref: UMLS:C1850160
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006088
name: 1-5 finger complete cutaneous syndactyly
synonym: "Webbed 1-5 fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861357
is_a: HP:0010554 ! Cutaneous finger syndactyly

[Term]
id: HP:0006089
name: Palmar hyperhidrosis
synonym: "Excessive sweating of hands" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856953
is_a: HP:0000975 ! Hyperhidrosis
is_a: HP:0040211 ! Abnormality of the skin of the palm

[Term]
id: HP:0006092
name: Malaligned carpal bone
def: "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)." [HPO:sdoelken]
synonym: "Incorrect alignment of wrist bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856742
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0006094
name: Finger joint hypermobility
synonym: "Increased mobility in finger joint" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:298193009
xref: UMLS:C0574974
is_a: HP:0001167 ! Abnormality of finger
is_a: HP:0001382 ! Joint hypermobility
is_a: HP:0006256 ! Abnormality of hand joint mobility

[Term]
id: HP:0006095
name: Wide tufts of distal phalanges
synonym: "Wide tips of outermost digital bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1835101
is_a: HP:0006200 ! Widened distal phalanges

[Term]
id: HP:0006097
name: 3-4 finger syndactyly
alt_id: HP:0006133
def: "Syndactyly with fusion of fingers three and four." [HPO:sdoelken]
synonym: "Partial or complete syndactyly 3rd-4th fingers" EXACT []
synonym: "Webbed 3rd-4th fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856889
is_a: HP:0006101 ! Finger syndactyly

[Term]
id: HP:0006099
name: Metacarpophalangeal joint hyperextensibility
def: "Increased mobility of one ore more metacarpophalangeal joint." [HPO:probinson]
xref: UMLS:C4025092
is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint

[Term]
id: HP:0006101
name: Finger syndactyly
alt_id: HP:0006057
def: "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators]
synonym: "Partial syndactyly" EXACT []
xref: SNOMEDCT_US:249769001
xref: SNOMEDCT_US:268251006
xref: SNOMEDCT_US:34048007
xref: UMLS:C0221352
is_a: HP:0001159 ! Syndactyly

[Term]
id: HP:0006106
name: Absent trapezoid bone
xref: UMLS:C1847191
is_a: HP:0004256 ! Abnormality of the trapezoid bone

[Term]
id: HP:0006107
name: Fingerpad telangiectases
alt_id: HP:0006246
def: "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers." [HPO:curators]
synonym: "Finger pad telangiectases" EXACT []
synonym: "Small dilated blood vessels in fingerpads" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861248
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0006108
name: Tapered metacarpals
def: "Metacarpal that becomes thinner toward the distal end." [HPO:probinson]
synonym: "Tapered long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025091
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006109
name: Absent phalangeal crease
alt_id: HP:0006031
def: "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers)." [HPO:probinson]
synonym: "Absent interphalangeal creases" EXACT []
synonym: "Aplasia of the interphalangeal creases" RELATED []
xref: UMLS:C1862479
xref: UMLS:C4020821
is_a: HP:0006143 ! Abnormal finger flexion creases

[Term]
id: HP:0006110
name: Shortening of all middle phalanges of the fingers
def: "Short (hypoplastic middle phalanx of finger, affecting all fingers." [HPO:probinson]
synonym: "Disproportionately short middle phalanges" EXACT []
synonym: "Shortened middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856912
is_a: HP:0005819 ! Short middle phalanx of finger

[Term]
id: HP:0006112
name: Expanded phalanges with widened medullary cavities
xref: UMLS:C1969287
is_a: HP:0009768 ! Broad phalanges of the hand

[Term]
id: HP:0006114
name: Multiple palmar creases
def: "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)." [HPO:probinson]
synonym: "Multiple palm lines" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861872
is_a: HP:0010490 ! Abnormality of the palmar creases

[Term]
id: HP:0006118
name: Shortening of all distal phalanges of the fingers
alt_id: HP:0005658
def: "Hypoplasia of all of the distal phalanx of finger." [HPO:probinson]
synonym: "Brachytelephalangy" RELATED []
synonym: "Shortening of all outermost bones of the fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021608
is_a: HP:0009882 ! Short distal phalanx of finger

[Term]
id: HP:0006119
name: Proximal tapering of metacarpals
def: "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance." [HPO:sdoelken]
subset: hposlim_core
synonym: "Pointed innermost long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Pointed proximal metacarpals" EXACT [HPO:sdoelken]
xref: UMLS:C1854749
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006121
name: Acral ulceration
alt_id: HP:0001226
alt_id: HP:0001862
alt_id: HP:0005040
def: "A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe." [PMID:20862203]
xref: UMLS:C1860099
is_a: HP:0007460 ! Autoamputation of digits
is_a: HP:0031917 ! Digital ulcer

[Term]
id: HP:0006127
name: Long proximal phalanx of finger
def: "Increased length of the proximal phalanx of finger." [HPO:probinson]
synonym: "Long innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025090
is_a: HP:0006155 ! Long phalanx of finger
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand

[Term]
id: HP:0006129
name: Drumstick terminal phalanges
def: "Rounding and broadening of the tufts of the distal phalanges." [HPO:probinson]
comment: This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg).
synonym: "Drumstick shaped digital bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1844822
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger

[Term]
id: HP:0006134
name: Enlarged metacarpal epiphyses
def: "Abnormally large size of the metaphyseal epiphyses." [HPO:curators]
synonym: "Enlarged end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1865035
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
is_a: HP:0010580 ! Enlarged epiphyses

[Term]
id: HP:0006135
name: Decreased finger mobility
synonym: "Decreased finger mobility" EXACT layperson []
synonym: "Decreased finger movement" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1862133
is_a: HP:0001155 ! Abnormality of the hand

[Term]
id: HP:0006136
name: Bilateral postaxial polydactyly
xref: UMLS:C1855003
is_a: HP:0001162 ! Postaxial hand polydactyly

[Term]
id: HP:0006140
name: Premature fusion of phalangeal epiphyses
def: "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth." [HPO:probinson]
synonym: "Premature fusion of end part of digital bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1855620
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0006143
name: Abnormal finger flexion creases
xref: UMLS:C1859481
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0006144
name: Shortening of all proximal phalanges of the fingers
alt_id: HP:0006021
def: "Congenital hypoplasia of proximal phalanx of finger or all fingers." [HPO:probinson]
synonym: "Shortening of all innermost bones of the fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025089
is_a: HP:0010241 ! Short proximal phalanx of finger

[Term]
id: HP:0006145
name: Central Y-shaped metacarpal
def: "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [HPO:curators]
synonym: "Y-shaped central long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1848597
is_a: HP:0006042 ! Y-shaped metacarpals

[Term]
id: HP:0006146
name: Broad metacarpal epiphyses
def: "Increased side-to-side width of the metacarpal epiphyses." [HPO:probinson]
synonym: "Broad end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025088
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses

[Term]
id: HP:0006147
name: Progressive fusion 2nd-5th pip joints
xref: UMLS:C1861310
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand

[Term]
id: HP:0006149
name: Increased laxity of fingers
xref: UMLS:C1850855
is_a: HP:0006094 ! Finger joint hypermobility

[Term]
id: HP:0006150
name: Swan neck-like deformities of the fingers
def: "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke." [HPO:curators]
xref: UMLS:C1849152
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0006152
name: Proximal symphalangism of hands
alt_id: HP:0006005
def: "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases." [HPO:sdoelken]
synonym: "Fused innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Proximal interphalangeal joint synostoses" EXACT []
xref: UMLS:C4021607
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
is_a: HP:0100264 ! Proximal symphalangism

[Term]
id: HP:0006153
name: Disharmonious carpal bone
synonym: "Disharmonious wrist bone" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C2675549
is_a: HP:0006014 ! Abnormally shaped carpal bones

[Term]
id: HP:0006155
name: Long phalanx of finger
def: "Increased length of multiple or a single phalanx of finger." [HPO:probinson]
synonym: "Long finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025087
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0006156
name: Ulnar deviation of thumb
def: "Bending or curvature of a thumb towards the ulnar side (towards the ring finger)." [HPO:probinson, pmid:10955488]
synonym: "Curved thumb deviated towards palm" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Ulnar deviation of the 1st finger" EXACT []
xref: SNOMEDCT_US:299137000
xref: UMLS:C0575904
xref: UMLS:C4280465
is_a: HP:0009465 ! Ulnar deviation of finger

[Term]
id: HP:0006157
name: Prominent palmar flexion creases
synonym: "Prominent life line" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1865131
xref: UMLS:C4280464
is_a: HP:0010490 ! Abnormality of the palmar creases

[Term]
id: HP:0006158
name: obsolete Finger joint hyperextensibility
is_obsolete: true

[Term]
id: HP:0006159
name: Mesoaxial hand polydactyly
alt_id: HP:0001496
alt_id: HP:0004056
def: "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly." [HPO:probinson]
subset: hposlim_core
synonym: "Central hand polydactyly" RELATED []
synonym: "Interdigital finger polydactyly" EXACT []
xref: UMLS:C4021606
is_a: HP:0001161 ! Hand polydactyly
is_a: HP:0100260 ! Mesoaxial polydactyly

[Term]
id: HP:0006160
name: Irregular metacarpals
def: "Irregular morphology of one or more metacarpal bones." [HPO:probinson]
synonym: "Irregular long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025086
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006161
name: Short metacarpals with rounded proximal ends
synonym: "Short long bone of hand with rounded innermost ends" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856471
is_a: HP:0010049 ! Short metacarpal

[Term]
id: HP:0006162
name: Soft tissue swelling of interphalangeal joints
synonym: "Soft tissue swelling of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1854913
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006163
name: Enlarged metacarpophalangeal joints
xref: UMLS:C1859700
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006165
name: Proportionate shortening of all digits
synonym: "Proportionate shortening of all digits" EXACT layperson []
xref: UMLS:C1862157
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers

[Term]
id: HP:0006166
name: Tubular metacarpal bones
synonym: "Cylindrical shaped long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859369
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006167
name: Prominent proximal interphalangeal joints
synonym: "Prominent innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025085
is_a: HP:0006237 ! Prominent interphalangeal joints

[Term]
id: HP:0006169
name: Decreased mobility 3rd-5th fingers
synonym: "Decreased mobility 3rd-5th fingers" EXACT layperson []
xref: UMLS:C1833882
is_a: HP:0006135 ! Decreased finger mobility

[Term]
id: HP:0006170
name: Chess-pawn distal phalanges
def: "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns." [HPO:probinson]
synonym: "Chess-pawn shaped outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1862097
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger

[Term]
id: HP:0006172
name: Flattened, squared-off epiphyses of tubular bones
synonym: "Flattened, squared-off end part of tubular bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834961
is_a: HP:0003053 ! Epiphyseal deformities of tubular bones
is_a: HP:0003071 ! Flattened epiphysis

[Term]
id: HP:0006174
name: Metacarpal diaphyseal endosteal sclerosis
def: "Increase in bone denisty in the diaphyseal (shaft) region of a metacarpal bone." [HPO:probinson]
xref: UMLS:C1840419
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0011001 ! Increased bone mineral density

[Term]
id: HP:0006175
name: Proximal phalangeal periosteal thickening
synonym: "Thickening of connective tissue of innermost finger bone" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834348
xref: UMLS:C4280463
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0006176
name: Two carpal ossification centers present at birth
xref: UMLS:C1839285
is_a: HP:0006257 ! Abnormality of carpal bone ossification

[Term]
id: HP:0006179
name: Pseudoepiphyses of second metacarpal
synonym: "Extra bone on end of second long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1862693
is_a: HP:0009193 ! Pseudoepiphyses of the metacarpals

[Term]
id: HP:0006180
name: Crowded carpal bones
synonym: "Crowded wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1863317
is_a: HP:0001191 ! Abnormality of the carpal bones

[Term]
id: HP:0006184
name: Decreased palmar creases
alt_id: HP:0006178
def: "Poorly defined or shallow palmar creases." [pmid:19125433]
subset: hposlim_core
synonym: "Hypoplastic palmar creases" EXACT []
synonym: "Poorly formed palmar creases" EXACT []
synonym: "Shallow palm line" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Shallow palmar creases" EXACT [HPO:skoehler]
xref: UMLS:C1857483
is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases

[Term]
id: HP:0006185
name: Enlarged proximal interphalangeal joints
synonym: "Enlarged innermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861350
is_a: HP:0006247 ! Enlarged interphalangeal joints

[Term]
id: HP:0006187
name: Fusion of midphalangeal joints
xref: UMLS:C1861332
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand

[Term]
id: HP:0006189
name: Prominent interdigital folds
xref: UMLS:C1866000
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0006190
name: Radially deviated wrists
xref: UMLS:C1861316
is_a: HP:0009486 ! Radial deviation of the hand

[Term]
id: HP:0006191
name: Deep palmar crease
def: "Excessively deep creases of the palm." [pmid:19125433]
subset: hposlim_core
synonym: "Deep palm line" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Deep palmar creases" EXACT []
xref: UMLS:C1857539
is_a: HP:0010490 ! Abnormality of the palmar creases

[Term]
id: HP:0006192
name: Tapered phalanx of finger
def: "Phalanges of the fingers becoming thinner toward the distal end." [HPO:probinson]
synonym: "Tapered finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025084
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0006193
name: Thimble-shaped middle phalanges of hand
def: "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat." [HPO:probinson]
synonym: "Thimble-shaped middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025083
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand

[Term]
id: HP:0006200
name: Widened distal phalanges
synonym: "Widened outermost bone of limb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1862421
is_a: HP:0006009 ! Broad phalanx

[Term]
id: HP:0006201
name: Hypermobility of distal interphalangeal joints
synonym: "Increased mobility of outermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1851811
is_a: HP:0005620 ! Hypermobility of interphalangeal joints

[Term]
id: HP:0006202
name: Osteolysis of scaphoids
xref: UMLS:C4025082
is_a: HP:0004243 ! Abnormality of the scaphoid
is_a: HP:0009699 ! Osteolytic defects of the hand bones

[Term]
id: HP:0006203
name: Decreased movement range in interphalangeal joints
synonym: "Decreased range of movement range in hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836772
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0006135 ! Decreased finger mobility

[Term]
id: HP:0006205
name: Irregular phalanges
def: "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance." [HPO:probinson]
synonym: "Irregular finger bones" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025081
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0006206
name: Hypersegmentation of proximal phalanx of second finger
def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger." [HPO:probinson]
comment: This anomaly is characteristic for brachydactyly type C.
xref: UMLS:C4025080
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger

[Term]
id: HP:0006207
name: Partial fusion of carpals
xref: UMLS:C1844519
is_a: HP:0009702 ! Carpal synostosis

[Term]
id: HP:0006208
name: Metaphyseal cupping of proximal phalanges
def: "Metaphyseal cupping affecting the proximal phalanges." [HPO:curators]
xref: UMLS:C1834980
is_a: HP:0003021 ! Metaphyseal cupping

[Term]
id: HP:0006209
name: Partial-complete absence of 5th phalanges
synonym: "Partial-complete absence of 5th digital bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1867928
is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger

[Term]
id: HP:0006210
name: Postaxial oligodactyly
xref: UMLS:C1867927
is_a: HP:0001180 ! Hand oligodactyly

[Term]
id: HP:0006213
name: Thin proximal phalanges with broad epiphyses of the hand
comment: removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal))
synonym: "Thin innermost bone with broad end part of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Thin proximal phalanges with broad epiphyses" BROAD []
xref: UMLS:C1862156
xref: UMLS:C4025079
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand

[Term]
id: HP:0006216
name: Single interphalangeal crease of fifth finger
alt_id: HP:0006245
def: "Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger." [HPO:probinson]
synonym: "Fifth finger single interphalangeal crease" EXACT []
xref: UMLS:C1850336
is_a: HP:0006109 ! Absent phalangeal crease

[Term]
id: HP:0006217
name: Limited mobility of proximal interphalangeal joint
synonym: "Limited mobility of innermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1857288
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006224
name: Tapering pointed ends of distal finger phalanges
def: "A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms)." [HPO:probinson, pmid:10662807]
xref: UMLS:C4025078
is_a: HP:0009884 ! Tapered distal phalanges of finger

[Term]
id: HP:0006226
name: Osteoarthritis of the first carpometacarpal joint
xref: SNOMEDCT_US:37895003
xref: UMLS:C0409956
is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand

[Term]
id: HP:0006228
name: Valgus hand deformity
xref: UMLS:C1860179
is_a: HP:0005922 ! Abnormal hand morphology

[Term]
id: HP:0006230
name: Unilateral oligodactyly
xref: UMLS:C3805861
is_a: HP:0001180 ! Hand oligodactyly

[Term]
id: HP:0006232
name: Expanded metacarpals with widened medullary cavities
xref: UMLS:C1969288
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006233
name: Osteoarthritis of the distal interphalangeal joint
xref: SNOMEDCT_US:239869009
xref: UMLS:C0409957
is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand

[Term]
id: HP:0006234
name: Osteolysis involving tarsal bones
alt_id: HP:0001858
def: "An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones." [HPO:sdoelken]
synonym: "Tarsal bone osteolysis" EXACT []
synonym: "Tarsal osteolysis" EXACT []
xref: UMLS:C1833735
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0009134 ! Osteolysis involving bones of the feet
created_by: peter
creation_date: 2008-04-17T02:39:00Z

[Term]
id: HP:0006236
name: Slender metacarpals
def: "Decreased width of the metacarpal bones (that is, reduced diameter)." [HPO:probinson]
synonym: "Slender long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025077
is_a: HP:0005916 ! Abnormal metacarpal morphology

[Term]
id: HP:0006237
name: Prominent interphalangeal joints
synonym: "Prominent hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859115
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006239
name: Shortening of all middle phalanges of the toes
def: "Abnormal shortening of all middle phalanges of toes." [HPO:probinson]
synonym: "Brachymesophalangy of feet" EXACT []
synonym: "Shortening of all the middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021605
is_a: HP:0003795 ! Short middle phalanx of toe

[Term]
id: HP:0006243
name: Phalangeal dislocation
xref: UMLS:C2673396
is_a: HP:0001373 ! Joint dislocation
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0006247
name: Enlarged interphalangeal joints
synonym: "Enlarged hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859701
is_a: HP:0003037 ! Enlarged joints
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006248
name: Limited wrist movement
def: "An abnormal limitation of the mobility of the wrist." [HPO:probinson]
subset: hposlim_core
synonym: "Limited movement of the wrist" EXACT layperson []
synonym: "Limited wrist movement" EXACT layperson []
xref: UMLS:C1840088
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0003019 ! Abnormality of the wrist

[Term]
id: HP:0006251
name: Limited wrist extension
xref: UMLS:C1862481
is_a: HP:0006248 ! Limited wrist movement

[Term]
id: HP:0006252
name: Interphalangeal joint erosions
xref: UMLS:C1850158
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006253
name: Swelling of proximal interphalangeal joints
synonym: "Swelling of innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1860841
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand

[Term]
id: HP:0006254
name: Elevated alpha-fetoprotein
def: "An increased concentration of alpha-fetoprotein." [HPO:gcarletti]
comment: An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele.
synonym: "Alpha fetoprotein abnormal" RELATED []
synonym: "Increased levels of alpha fetoprotein" EXACT []
synonym: "Increased serum alpha-fetoprotein" EXACT []
synonym: "Serum alpha-fetoprotein increased" EXACT []
xref: UMLS:C0235971
xref: UMLS:C0476489
is_a: HP:0045056 ! Abnormal levels of alpha-fetoprotein
created_by: peter
creation_date: 2008-03-28T09:17:00Z

[Term]
id: HP:0006256
name: Abnormality of hand joint mobility
synonym: "Abnormality of hand joint mobility" EXACT layperson []
xref: UMLS:C4025076
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0011729 ! Abnormality of joint mobility
created_by: peter
creation_date: 2008-03-28T10:14:00Z

[Term]
id: HP:0006257
name: Abnormality of carpal bone ossification
synonym: "Abnormal ankle bone maturation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025075
is_a: HP:0001191 ! Abnormality of the carpal bones
is_a: HP:0010660 ! Abnormal hand bone ossification
created_by: peter
creation_date: 2008-03-28T02:29:00Z

[Term]
id: HP:0006261
name: Abnormal phalangeal joint morphology of the hand
alt_id: HP:0004266
synonym: "Abnormality of phalangeal joints of the hand" EXACT []
synonym: "Abnormality of the small joints of the hand" EXACT layperson []
xref: UMLS:C4021604
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: peter
creation_date: 2008-03-28T02:55:00Z

[Term]
id: HP:0006262
name: Aplasia/Hypoplasia of the 5th finger
def: "A small/hypoplastic or absent/aplastic 5th finger." [HPO:sdoelken]
synonym: "Absent/small little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025074
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
created_by: peter
creation_date: 2008-03-28T02:59:00Z

[Term]
id: HP:0006263
name: Abnormality of the epiphyses of the 2nd finger
def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger." [HPO:curators]
synonym: "Abnormality of the end part of the index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025073
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
created_by: peter
creation_date: 2008-03-28T03:04:00Z

[Term]
id: HP:0006264
name: Aplasia/Hypoplasia of the 2nd finger
def: "A small/hypoplastic or absent/aplastic 2nd finger." [HPO:curators]
synonym: "Absent/small index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025072
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
created_by: peter
creation_date: 2008-03-28T03:06:00Z

[Term]
id: HP:0006265
name: Aplasia/Hypoplasia of fingers
def: "Small/hypoplastic or absent/aplastic fingers." [HPO:curators]
synonym: "Absent/small fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025071
is_a: HP:0001167 ! Abnormality of finger
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
created_by: peter
creation_date: 2008-03-28T03:09:00Z

[Term]
id: HP:0006266
name: Small placenta
def: "Reduced size of the placenta." [HPO:probinson]
synonym: "Small placenta" EXACT layperson []
xref: SNOMEDCT_US:289264006
xref: UMLS:C0566694
is_a: HP:0012767 ! Abnormal placental size

[Term]
id: HP:0006267
name: Large placenta
def: "Increased size of the placenta." [HPO:probinson]
synonym: "Large placenta" EXACT layperson []
synonym: "Placental enlargement" EXACT []
xref: SNOMEDCT_US:289263000
xref: UMLS:C0566693
is_a: HP:0012767 ! Abnormal placental size

[Term]
id: HP:0006268
name: Fluctuating splenomegaly
def: "Intermittently increased size of the spleen." [HPO:probinson]
xref: UMLS:C1835882
is_a: HP:0001744 ! Splenomegaly

[Term]
id: HP:0006270
name: Hypoplastic spleen
def: "Underdevelopment of the spleen." [HPO:curators]
synonym: "Underdeveloped spleen" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1970617
is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen

[Term]
id: HP:0006273
name: Pancreatic lymphangiectasis
def: "The presence of lymphangiectasis in the pancreas." [HPO:probinson]
xref: UMLS:C1856162
is_a: HP:0012090 ! Abnormal pancreas morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0006274
name: Reduced pancreatic beta cells
def: "Reduced number of beta cells in the pancreatic islets of Langerhans." [HPO:probinson]
comment: The beta cells are responsible for producing insulin and amylin.
xref: UMLS:C1856904
is_a: HP:0006476 ! Abnormality of the pancreatic islet cells

[Term]
id: HP:0006276
name: Hyperechogenic pancreas
xref: UMLS:C1857945
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0006277
name: Pancreatic hyperplasia
def: "Hyperplasia of the pancreas." [HPO:probinson]
comment: Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process.
xref: UMLS:C1851733
is_a: HP:0012094 ! Abnormal pancreas size

[Term]
id: HP:0006278
name: Ectopic pancreatic tissue
def: "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut." [HPO:curators]
synonym: "Abnormal pancreas location" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:264304000
xref: UMLS:C0994638
is_a: HP:0012090 ! Abnormal pancreas morphology

[Term]
id: HP:0006279
name: Beta-cell dysfunction
xref: UMLS:C1969875
is_a: HP:0006476 ! Abnormality of the pancreatic islet cells

[Term]
id: HP:0006280
name: Chronic pancreatitis
def: "A chronic form of pancreatitis." [HPO:probinson]
synonym: "Chronic pancreas inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D050500
xref: SNOMEDCT_US:233870001
xref: SNOMEDCT_US:234689009
xref: SNOMEDCT_US:235494005
xref: UMLS:C0149521
is_a: HP:0001733 ! Pancreatitis

[Term]
id: HP:0006282
name: Generalized hypoplasia of dental enamel
def: "A generalized form of developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier]
synonym: "Generalized dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Generalized hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025070
xref: UMLS:C4280462
is_a: HP:0006297 ! Hypoplasia of dental enamel

[Term]
id: HP:0006283
name: Multiple unerupted teeth
def: "The presence of multiple embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier]
synonym: "Failure of eruption of multiple teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Multiple non-erupting teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Multiple unerupted teeth" EXACT layperson []
xref: UMLS:C4025069
is_a: HP:0000706 ! Unerupted tooth

[Term]
id: HP:0006285
name: Hypomineralization of enamel
alt_id: HP:0006359
def: "A decreased amount of enamel mineralization." [HPO:probinson]
synonym: "Decreased enamel mineralisation" EXACT []
synonym: "Fluorosis of tooth enamel" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased porosity of tooth enamel" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Mottled tooth enamel" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Poorly mineralized tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "White spot lesions of tooth enamel" RELATED [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:109487003
xref: UMLS:C3665628
xref: UMLS:C4280253
xref: UMLS:C4280460
xref: UMLS:C4280461
is_a: HP:0000682 ! Abnormality of dental enamel

[Term]
id: HP:0006286
name: Yellow-brown discoloration of the teeth
synonym: "Yellow-brown discoloration of the teeth" EXACT layperson []
synonym: "Yellow-brown discolored teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Yellow-brown tooth shade" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1863008
is_a: HP:0011073 ! Abnormality of dental color

[Term]
id: HP:0006288
name: Advanced eruption of teeth
alt_id: HP:0006317
def: "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age." [HPO:ibailleulforestier, pmid:19125428]
comment: There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum.
synonym: "Advanced dental eruption" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Early dental eruption" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Early eruption of teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Eruption, advanced" EXACT []
synonym: "Premature dental eruption" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Premature eruption of teeth" EXACT []
synonym: "Premature tooth eruption" EXACT []
xref: SNOMEDCT_US:16000003
xref: UMLS:C0266054
is_a: HP:0006292 ! Abnormality of dental eruption

[Term]
id: HP:0006289
name: Agenesis of central incisor
alt_id: HP:0006320
def: "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor." [HPO:ibailleulforestier]
synonym: "Absent central incisor" EXACT layperson []
synonym: "Absent central incisors" RELATED layperson []
synonym: "Failure of development of central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing central incisors" RELATED layperson []
xref: UMLS:C1855000
xref: UMLS:C4020819
is_a: HP:0006485 ! Agenesis of incisor

[Term]
id: HP:0006290
name: Discolored lateral incisors
def: "The presence of discolored lateral incisors." [HPO:ibailleulforestier]
synonym: "Abnormality of color of front teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of color of lateral incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of shade of lateral incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Discolored front teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1866510
xref: UMLS:C4280459
is_a: HP:0011063 ! Abnormality of incisor morphology

[Term]
id: HP:0006291
name: Marked delay in eruption of permanent teeth
synonym: "Severe delay of eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Severe delay of eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Very late eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Very late eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1863009
is_a: HP:0000696 ! Delayed eruption of permanent teeth

[Term]
id: HP:0006292
name: Abnormality of dental eruption
def: "An abnormality of tooth eruption." [HPO:ibailleulforestier]
comment: The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars.
synonym: "Abnormal dental eruption" EXACT []
synonym: "Abnormality of tooth eruption" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of dental eruption" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of tooth eruption" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Disorder of dental eruption" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Disorder of tooth eruption" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Disturbance of dental eruption" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Disturbance of tooth eruption" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:1086101000119107
xref: SNOMEDCT_US:234949000
xref: UMLS:C0012767
xref: UMLS:C1859363
xref: UMLS:C3874458
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0006293
name: Agenesis of maxillary central incisor
def: "Agenesis of upper secondary incisor or of upper central primary incisor." [HPO:ibailleulforestier]
synonym: "Absence of maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing upper central incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025068
xref: UMLS:C4280458
is_a: HP:0006289 ! Agenesis of central incisor
is_a: HP:0200160 ! Agenesis of maxillary incisor

[Term]
id: HP:0006297
name: Hypoplasia of dental enamel
alt_id: HP:0000671
alt_id: HP:0001565
alt_id: HP:0003770
def: "Developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier, pmid:18499550]
comment: Note that the term enamel dysplasia was previously used for this feature but is no longer recommended.
synonym: "Defective enamel matrix" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Dental enamel hypoplasia" EXACT []
synonym: "Dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Enamel dysplasia" RELATED []
synonym: "Enamel hypoplasia" EXACT []
synonym: "Hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thin dental enamel" BROAD layperson []
synonym: "Thin tooth enamel" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdeveloped teeth enamel" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D003744
xref: SNOMEDCT_US:26597004
xref: SNOMEDCT_US:699382004
xref: SNOMEDCT_US:699421005
xref: UMLS:C0011351
xref: UMLS:C1851854
xref: UMLS:C4280456
xref: UMLS:C4280457
is_a: HP:0000682 ! Abnormality of dental enamel
is_a: HP:0000685 ! Hypoplasia of teeth

[Term]
id: HP:0006298
name: Prolonged bleeding after dental extraction
def: "Prolonged bleeding post dental extraction sufficient to require medical intervention." [HPO:probinson, WWW:wouwehand]
synonym: "Prolonged bleeding after dental extraction" EXACT layperson []
xref: UMLS:C1969572
is_a: HP:0011890 ! Prolonged bleeding following procedure

[Term]
id: HP:0006302
name: Dagger-shaped pulp calcifications
def: "Dagger-shaped calcifications in the dental pulp." [HPO:ibailleulforestier]
synonym: "Dagger shaped pulp denticles" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Dagger shaped pulp stones" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025067
is_a: HP:0006479 ! Abnormality of the dental pulp

[Term]
id: HP:0006304
name: Widely-spaced incisors
synonym: "Anterior diastema of teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Diastema between front teeth" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Diastema between incisors" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Gap between front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Widely spaced front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:196409003
xref: UMLS:C0399545
is_a: HP:0000699 ! Diastema
is_a: HP:0040159 ! Abnormal spaced incisors

[Term]
id: HP:0006308
name: Atrophy of alveolar ridges
synonym: "Alveolar bone loss" RELATED []
synonym: "Atrophy of alveolar margins" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Atrophy of alveolar processes of jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flattening of alveolar margin" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Flattening of alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Flattening of alveolar ridges" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Flattening of gum ridges" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Resorption of alveolar margins" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Resorption of alveolar processes of jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Resorption of alveolar ridges" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Shrinking of alveolar ridges" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Shrinking of gum ridges" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855642
xref: UMLS:C4280454
xref: UMLS:C4280455
is_a: HP:0006477 ! Abnormality of the alveolar ridges

[Term]
id: HP:0006311
name: Generalized microdontia
def: "A generalized form of microdontia." [HPO:ibailleulforestier]
synonym: "Decreased size of all teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased tooth mass" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of all teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophy of all teeth" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Tooth mass insufficiency" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025065
is_a: HP:0000691 ! Microdontia

[Term]
id: HP:0006313
name: Widely spaced primary teeth
def: "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia." [HPO:ibailleulforestier]
synonym: "Generalized spacing of primary teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wide gaps between baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide gaps between primary teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Widely spaced baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Widely spaced deciduous teeth" EXACT []
synonym: "Widely spaced milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021603
is_a: HP:0000687 ! Widely spaced teeth
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006315
name: Single median maxillary incisor
alt_id: HP:0001568
alt_id: HP:0001573
alt_id: HP:0006356
def: "The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor." [pmid:19125428]
comment: If a single maxillary central incisor is present but not positioned in the midline, this could be hypodontia, but this cannot be evaluated without a radiograph.
subset: hposlim_core
synonym: "Only one upper front tooth" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Single central incisor" EXACT []
synonym: "Single central upper incisor" EXACT []
synonym: "Single maxillary central incisor" EXACT []
synonym: "Single median incisor" EXACT []
synonym: "Single median maxillary central incisor" EXACT []
synonym: "Single midline maxillary incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Single midline upper front tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Solitary median maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Solitary median maxillary central incisor syndrome" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Solitary midline maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:C537342
xref: SNOMEDCT_US:707609006
xref: UMLS:C1840235
is_a: HP:0011064 ! Abnormal number of incisors

[Term]
id: HP:0006316
name: Irregularly spaced teeth
alt_id: HP:0009081
def: "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth." [HPO:ibailleulforestier]
synonym: "Irregular dental spacing" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Irregularly spaced teeth" EXACT layperson []
synonym: "Variability of dental spacing" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Variability of spacing between teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1845878
is_a: HP:0000692 ! Misalignment of teeth

[Term]
id: HP:0006321
name: Multiple non-erupting secondary teeth
synonym: "Failure of eruption of multiple adult teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of eruption of multiple permanent teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Multiple non-erupting adult teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Multiple non-erupting permanent teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Multiple unerupted adult teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Multiple unerupted permanent teeth" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1848904
is_a: HP:0000696 ! Delayed eruption of permanent teeth

[Term]
id: HP:0006323
name: Premature loss of primary teeth
alt_id: HP:0006319
alt_id: HP:0006351
def: "Loss of the primary (also known as deciduous) teeth before the usual age." [HPO:sdoelken]
comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth.
subset: hposlim_core
synonym: "Early loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Early loss of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Early loss of primary teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Premature deciduous tooth loss" EXACT []
synonym: "Premature exfoliation of deciduous teeth" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Premature exfoliation of primary teeth" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Premature loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Premature loss of deciduous teeth" EXACT []
xref: SNOMEDCT_US:122483006
xref: SNOMEDCT_US:39034005
xref: UMLS:C0266052
is_a: HP:0006480 ! Premature loss of teeth
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006326
name: Buried teeth encased in mucopolysaccharide
synonym: "Failure of dental eruption due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of tooth eruption due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Impacted teeth due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unerupted dentition due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unerupted teeth due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025064
is_a: HP:0000164 ! Abnormality of the dentition

[Term]
id: HP:0006329
name: Alveolar process hypoplasia
alt_id: HP:0006312
def: "Underdevelopment of the alveolar process (also known as alveolar bone)." [HPO:probinson]
comment: The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla.
synonym: "Decreased size of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of alveolar process of jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of alveolar ridge" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of alveolar ridge" EXACT []
synonym: "Hypoplastic alveolar bone" EXACT []
synonym: "Hypotrophic alveolar process of jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic alveolar ridge" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:708494003
xref: UMLS:C1848905
xref: UMLS:C3872671
xref: UMLS:C4280451
xref: UMLS:C4280452
xref: UMLS:C4280453
is_a: HP:0006477 ! Abnormality of the alveolar ridges

[Term]
id: HP:0006330
name: Rotated maxillary central incisors
synonym: "Rotated upper central incisors" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Rotated upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Turned upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Twisted upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025063
is_a: HP:0011062 ! Misalignment of incisors

[Term]
id: HP:0006332
name: Supernumerary maxillary incisor
def: "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor." [HPO:ibailleulforestier]
synonym: "Extra upper front tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025062
is_a: HP:0011064 ! Abnormal number of incisors
is_a: HP:0011069 ! Increased number of teeth

[Term]
id: HP:0006333
name: Crowded maxillary incisors
def: "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor." [HPO:ibailleulforestier]
synonym: "Crowded upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Crowded upper incisors" EXACT layperson []
synonym: "Overlapped maxillary incisors" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Overlapped upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021602
is_a: HP:0011062 ! Misalignment of incisors

[Term]
id: HP:0006334
name: Hypoplasia of the primary teeth
alt_id: HP:0006318
def: "Developmental hypoplasia of the primary teeth." [HPO:ibailleulforestier]
synonym: "Decreased size of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of primary teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic deciduous teeth" EXACT []
synonym: "Small baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small primary teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of primary teeth" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855694
is_a: HP:0000685 ! Hypoplasia of teeth
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006335
name: Persistence of primary teeth
alt_id: HP:0003772
alt_id: HP:0006299
alt_id: HP:0006305
alt_id: HP:0006341
alt_id: HP:0006354
def: "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth." [HPO:ibailleulforestier]
comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars.
synonym: "Deciduous teeth retention" EXACT []
synonym: "Delayed loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Delayed loss of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Delayed loss of primary teeth" EXACT []
synonym: "Failure to exfoliate deciduous teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure to exfoliate primary teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure to lose baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Persistence of deciduous teeth" EXACT []
synonym: "Persistent deciduous dentition" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Persistent primary dentition" EXACT []
synonym: "Persistent primary teeth" EXACT []
synonym: "Retained baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Retained deciduous teeth" EXACT []
synonym: "Retained primary teeth" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:57650002
xref: UMLS:C0266050
is_a: HP:0006292 ! Abnormality of dental eruption
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006336
name: Short dental roots
def: "Short dental root." [HPO:probinson]
synonym: "Decreased length of dental roots" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased length of tooth roots" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short dental roots" EXACT layperson []
synonym: "Short tooth roots" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdeveloped dental roots" EXACT layperson []
synonym: "Underdeveloped tooth roots" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C2678330
is_a: HP:0040220 ! Abnormal size the dental root

[Term]
id: HP:0006337
name: Premature eruption of permanent teeth
def: "Premature tooth eruption of the permanent dentition." [HPO:ibailleulforestier]
subset: hposlim_core
synonym: "Advanced tooth eruption" EXACT []
synonym: "Early eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Early eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Precocious eruption of secondary dentition" EXACT []
synonym: "Precocious eruption of secondary teeth" EXACT []
synonym: "Premature eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021601
is_a: HP:0006288 ! Advanced eruption of teeth

[Term]
id: HP:0006338
name: Malformation of mandibular premolar
def: "An abnormality of themorphology of secondary premolar tooth." [HPO:ibailleulforestier]
synonym: "Malformation of lower premolar" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of mandibular bicuspid" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025061
is_a: HP:0011080 ! Abnormality of premolar morphology

[Term]
id: HP:0006339
name: Conical mandibular incisor
def: "An abnormal conical morphology of the primary or permanent mandibular incisors." [HPO:ibailleulforestier]
synonym: "Cone shaped lower front tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Conoid mandibular incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lower front shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Peg shaped lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Peg shaped mandibular incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Pointed mandibular incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Pointed mandibular incisors" RELATED []
xref: UMLS:C4020818
xref: UMLS:C4280449
xref: UMLS:C4280450
is_a: HP:0011065 ! Conical incisor

[Term]
id: HP:0006342
name: Peg-shaped maxillary lateral incisors
def: "Peg-shaped upper lateral secondary incisor tooth." [HPO:ibailleulforestier]
synonym: "Cone shaped upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Conical maxillary lateral incisors" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Conoid upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Peg laterals" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Peg shaped upper lateral incisors" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pointed upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025060
is_a: HP:0011065 ! Conical incisor

[Term]
id: HP:0006344
name: Abnormality of primary molar morphology
def: "An abnormality of morphology of primary molar." [HPO:ibailleulforestier]
synonym: "Abnormality of deciduous molar morphology" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of shape of baby molar" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of shape of primary molar" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025059
is_a: HP:0006481 ! Abnormality of primary teeth
is_a: HP:0011070 ! Abnormality of molar morphology

[Term]
id: HP:0006346
name: Screwdriver-shaped incisors
def: "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape." [HPO:ibailleulforestier]
synonym: "Screwdriver shaped front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Screwdriver-shaped incisors" EXACT layperson []
xref: UMLS:C4025058
is_a: HP:0011063 ! Abnormality of incisor morphology

[Term]
id: HP:0006347
name: Microdontia of primary teeth
def: "Decreased size of the primary teeth." [HPO:ibailleulforestier]
synonym: "Decreased size of primary tooth" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of primary tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Microdontia of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small deciduous teeth" EXACT []
xref: UMLS:C1855694
xref: UMLS:C1856203
is_a: HP:0000691 ! Microdontia
is_a: HP:0006481 ! Abnormality of primary teeth

[Term]
id: HP:0006349
name: Agenesis of permanent teeth
alt_id: HP:0000681
alt_id: HP:0006287
def: "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth." [HPO:probinson]
synonym: "Absence of permanent teeth" EXACT []
synonym: "Absent permanent teeth" EXACT []
synonym: "Agenesis of permanent dentition" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of secondary dentition" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of secondary teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing teeth" EXACT layperson []
xref: MSH:C563203
xref: SNOMEDCT_US:109444001
xref: SNOMEDCT_US:234948008
xref: UMLS:C0457756
xref: UMLS:C1290511
is_a: HP:0009804 ! Reduced number of teeth
is_a: HP:0011044 ! Abnormal number of permanent teeth

[Term]
id: HP:0006350
name: Obliteration of the pulp chamber
def: "Obliteration of the pulp chambers owing to mineralization of the dental pulp." [pmid:162890]
synonym: "Crescent/chevron-shaped pulp chambers" RELATED []
synonym: "Narrowing of pulp chamber of tooth" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Pulp canal obliteration" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Reduced size of pulp chamber of tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small pulp chamber of tooth" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4020817
xref: UMLS:C4025057
xref: UMLS:C4280448
is_a: HP:0006479 ! Abnormality of the dental pulp

[Term]
id: HP:0006352
name: Failure of eruption of permanent teeth
alt_id: HP:0006309
def: "Lack of tooth eruption of the secondary dentition." [HPO:ibailleulforestier]
synonym: "Failure of eruption of adult teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unerupted adult dentition" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Unerupted adult teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Unerupted permanent dentition" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Unerupted permanent teeth" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025056
xref: UMLS:C4280447
is_a: HP:0000706 ! Unerupted tooth

[Term]
id: HP:0006353
name: Hypoplasia of the tooth germ
def: "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth." [HPO:ibailleulforestier]
synonym: "Decreased size of tooth bud" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of tooth germ" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic tooth buds" RELATED []
synonym: "Hypotrophic tooth germ" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small tooth bud" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small tooth germ" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of tooth bud" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of tooth germ" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025055
is_a: HP:0000685 ! Hypoplasia of teeth

[Term]
id: HP:0006355
name: Agenesis of mandibular central incisor
def: "Agenesis of lower secondary incisor or lower primary incisor." [HPO:ibailleulforestier]
synonym: "Absence of lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C1840225
xref: UMLS:C4025054
is_a: HP:0006289 ! Agenesis of central incisor
is_a: HP:0200161 ! Agenesis of mandibular incisor

[Term]
id: HP:0006357
name: Premature loss of permanent teeth
def: "Premature loss of the permanent teeth." [HPO:ibailleulforestier]
synonym: "Early loss of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Early loss of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Early loss of secondary dentition" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Premature loss of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Premature loss of secondary teeth" EXACT []
xref: UMLS:C1969738
is_a: HP:0006480 ! Premature loss of teeth

[Term]
id: HP:0006358
name: Shovel-shaped maxillary central incisors
def: "Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors." [pmid:2212205]
synonym: "Shovel-shaped upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1833168
is_a: HP:0011063 ! Abnormality of incisor morphology

[Term]
id: HP:0006361
name: Irregular femoral epiphysis
synonym: "Irregular thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1850658
is_a: HP:0006499 ! Abnormality of femoral epiphysis
is_a: HP:0010582 ! Irregular epiphyses

[Term]
id: HP:0006362
name: Varus deformity of humeral neck
xref: UMLS:C1854948
is_a: HP:0003887 ! Abnormality of the humeral heads

[Term]
id: HP:0006366
name: Adductor longus contractures
xref: UMLS:C1859524
is_a: HP:0005750 ! Contractures of the joints of the lower limbs

[Term]
id: HP:0006367
name: Crumpled long bones
def: "An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta." [HPO:probinson]
synonym: "Crumpled long bones" EXACT layperson []
xref: UMLS:C1970497
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0006368
name: Forearm reduction defects
xref: UMLS:C1849327
is_a: HP:0002973 ! Abnormality of the forearm

[Term]
id: HP:0006369
name: Irregular patellae
alt_id: HP:0006458
def: "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour." [HPO:probinson]
synonym: "Irregular patellar contour" EXACT []
synonym: "Irregular patellar margins" EXACT []
xref: UMLS:C1836870
is_a: HP:0003045 ! Abnormality of the patella

[Term]
id: HP:0006370
name: Distal ulnar epiphyseal stippling
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna." [HPO:probinson]
synonym: "Distal ulnar epiphyseal calcifications" EXACT []
xref: UMLS:C4021600
is_a: HP:0010600 ! Abnormality of the distal ulnar epiphysis
is_a: HP:0010655 ! Epiphyseal stippling
is_a: HP:0040073 ! Abnormal forearm bone morphology

[Term]
id: HP:0006371
name: Broad long bone diaphyses
def: "Increased width of the diaphysis of long bones." [HPO:probinson]
synonym: "Broad shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025053
is_a: HP:0006504 ! Anomaly of the limb diaphyses

[Term]
id: HP:0006375
name: Dumbbell-shaped femur
def: "The femur is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson]
synonym: "Dumbbell-shaped thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025052
is_a: HP:0000947 ! Dumbbell-shaped long bone
is_a: HP:0002823 ! Abnormality of femur morphology

[Term]
id: HP:0006376
name: Limited elbow flexion
xref: UMLS:C1856922
is_a: HP:0002996 ! Limited elbow movement

[Term]
id: HP:0006378
name: Osteolysis of patellae
xref: UMLS:C4025051
is_a: HP:0003045 ! Abnormality of the patella
is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs

[Term]
id: HP:0006379
name: Proximal tibial hypoplasia
comment: Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia'
synonym: "Proximal tibial hypopolasia" EXACT []
xref: UMLS:C1856029
is_a: HP:0005736 ! Short tibia

[Term]
id: HP:0006380
name: Knee flexion contracture
alt_id: HP:0002978
def: "A bent (flexed) knee joint that cannot be straightened actively or passively." [HPO:probinson]
subset: hposlim_core
synonym: "Contractures of knees" EXACT []
synonym: "Contractures of the knees" EXACT []
synonym: "Flexion contracture of knees" EXACT []
synonym: "Flexion contractures at both knees" EXACT [HPO:skoehler]
synonym: "Flexion contractures of knees" EXACT []
synonym: "Flexion deformity of the knee" EXACT []
synonym: "Inability to straighten knee" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Knee contracture" EXACT []
synonym: "Knee contractures" EXACT []
synonym: "Knee flexion contractures" EXACT []
synonym: "Knee flexion deformity" EXACT []
xref: SNOMEDCT_US:202289003
xref: UMLS:C0409355
is_a: HP:0002815 ! Abnormality of the knee
is_a: HP:0005750 ! Contractures of the joints of the lower limbs

[Term]
id: HP:0006381
name: Rudimentary fibula
alt_id: HP:0004986
def: "Absent or nearly absent fibula. (Does not include aplastic)" []
synonym: "Rudimentary to absent fibulae" EXACT []
synonym: "Small to absent calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small to absent fibula" EXACT []
xref: UMLS:C1844706
is_a: HP:0003038 ! Fibular hypoplasia

[Term]
id: HP:0006383
name: Progressive bowing of long bones
def: "Progressive bending or abnormal curvature of a long bone." [HPO:probinson]
xref: UMLS:C1857137
is_a: HP:0006487 ! Bowing of the long bones

[Term]
id: HP:0006384
name: Club-shaped distal femur
alt_id: HP:0006447
def: "An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis." [HPO:probinson]
comment: previous def: 'has part' some \n(clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal))
synonym: "Club-shaped distal femora" EXACT []
synonym: "Club-shaped outermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1857505
is_a: HP:0002823 ! Abnormality of femur morphology

[Term]
id: HP:0006385
name: Short lower limbs
alt_id: HP:0003054
def: "Shortening of the legs related to developmental hypoplasia of the bones of the leg." [HPO:probinson]
subset: hposlim_core
synonym: "Short legs" EXACT layperson []
synonym: "Short lower limbs" EXACT layperson []
xref: SNOMEDCT_US:249786007
xref: UMLS:C0426901
is_a: HP:0009816 ! Lower limb undergrowth

[Term]
id: HP:0006386
name: Hypoplastic distal radial epiphyses
def: "Underdevelopment of the distal epiphysis of the radius." [HPO:curators]
xref: UMLS:C1969286
is_a: HP:0010597 ! Abnormality of the distal radial epiphysis

[Term]
id: HP:0006387
name: Wide distal femoral metaphysis
def: "Increased width of the distal part of the shaft (metaphysis) of the femur." [HPO:probinson]
synonym: "Broad outermost wide portion of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide distal metaphysis of femur" EXACT []
xref: UMLS:C1849309
is_a: HP:0030299 ! Distal femoral metaphyseal abnormality

[Term]
id: HP:0006389
name: Limited knee flexion
xref: UMLS:C1839512
is_a: HP:0002815 ! Abnormality of the knee

[Term]
id: HP:0006390
name: Anterior tibial bowing
def: "An abnormal anterior bending or curvature of the tibia." [HPO:probinson]
synonym: "Anterior bowing of tibia" EXACT []
xref: UMLS:C1861937
is_a: HP:0002982 ! Tibial bowing

[Term]
id: HP:0006391
name: Overtubulated long bones
def: "Overconstriction, or narrowness of the diaphysis and metaphysis of long bones." [HPO:probinson]
xref: UMLS:C1848769
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0006392
name: Increased density of long bones
def: "An abnormal increase in the bone density of the long bones." [HPO:curators]
synonym: "Increased density of long bones" EXACT layperson []
xref: UMLS:C1849307
is_a: HP:0011001 ! Increased bone mineral density
is_a: HP:0011314 ! Abnormality of long bone morphology

[Term]
id: HP:0006394
name: Limited pronation/supination of forearm
def: "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation)." [HPO:probinson]
subset: hposlim_core
synonym: "Limited pronation/supination of forearm" EXACT layperson []
xref: UMLS:C1861331
is_a: HP:0002996 ! Limited elbow movement

[Term]
id: HP:0006397
name: Lateral displacement of patellae
xref: UMLS:C1860156
is_a: HP:0003045 ! Abnormality of the patella

[Term]
id: HP:0006398
name: Flat distal femoral epiphysis
def: "An abnormal flattening of the distal epiphysis of femur." [HPO:sdoelken]
synonym: "Flat end part of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Flattened distal femoral epiphyses" EXACT []
xref: UMLS:C4021599
is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis
is_a: HP:0030289 ! Flattened femoral epiphysis

[Term]
id: HP:0006400
name: Absent knee epiphyses
synonym: "Absent knee end part" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859462
is_a: HP:0002815 ! Abnormality of the knee
is_a: HP:0010577 ! Absent epiphyses

[Term]
id: HP:0006402
name: Distal shortening of limbs
synonym: "Short outer part of limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1840307
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0006406
name: Club-shaped proximal femur
def: "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis." [HPO:probinson]
comment: previous def: 'has part' some \n(clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal))
synonym: "Club-shaped innermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1968611
is_a: HP:0002823 ! Abnormality of femur morphology

[Term]
id: HP:0006407
name: Irregular distal femoral epiphysis
def: "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular." [HPO:probinson]
synonym: "Irregular outermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025050
is_a: HP:0006361 ! Irregular femoral epiphysis
is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis

[Term]
id: HP:0006408
name: Distal tapering femur
synonym: "Tapering of outermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025049
is_a: HP:0002823 ! Abnormality of femur morphology

[Term]
id: HP:0006409
name: Progressive leg bowing
def: "Progressive bending or abnormal curvature of the leg." [HPO:probinson]
xref: UMLS:C1855191
is_a: HP:0006383 ! Progressive bowing of long bones

[Term]
id: HP:0006413
name: Broad tibial metaphyses
synonym: "Broad wide portion of shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad wide portion of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2678328
is_a: HP:0006491 ! Abnormality of the tibial metaphysis

[Term]
id: HP:0006414
name: Distal tibial bowing
def: "A bending or abnormal curvature of the distal portion of the tibia." [HPO:probinson]
synonym: "Bowing of the distal tibia" EXACT []
synonym: "Tibial bowing at ankle" EXACT []
xref: UMLS:C4021598
is_a: HP:0002982 ! Tibial bowing
is_a: HP:0003028 ! Abnormality of the ankles

[Term]
id: HP:0006415
name: Cortically dense long tubular bones
def: "Increased density of the compact bone of long bone." [HPO:probinson]
comment: Note that compact bone and cortical bone are synonymous.
xref: UMLS:C1849276
is_a: HP:0000935 ! Thickened cortex of long bones

[Term]
id: HP:0006417
name: Broad femoral metaphyses
synonym: "Broad wide portion of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1864854
is_a: HP:0006489 ! Abnormality of the femoral metaphysis

[Term]
id: HP:0006420
name: Asymmetric radial dysplasia
def: "The presence of asymmetric developmental dysplasia of the radius." [HPO:probinson]
xref: UMLS:C1969396
is_a: HP:0006433 ! Dysplastic radii

[Term]
id: HP:0006423
name: Peg-like central prominence of distal tibial metaphyses
xref: UMLS:C1846160
is_a: HP:0006491 ! Abnormality of the tibial metaphysis

[Term]
id: HP:0006424
name: Elongated radius
def: "Increased length of the radius." [HPO:probinson]
xref: UMLS:C4025048
is_a: HP:0045009 ! Abnormal morphology of the radius

[Term]
id: HP:0006426
name: Rudimentary to absent tibiae
xref: UMLS:C1968943
is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia

[Term]
id: HP:0006429
name: Broad femoral neck
alt_id: HP:0003369
alt_id: HP:0003372
alt_id: HP:0008781
alt_id: HP:0008782
alt_id: HP:0008836
def: "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson]
synonym: "Broadening of femoral neck" EXACT []
synonym: "Wide femoral neck" EXACT []
synonym: "Wide neck of thigh bone" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Widened femoral necks" EXACT []
xref: UMLS:C1849016
is_a: HP:0003367 ! Abnormality of the femoral neck

[Term]
id: HP:0006431
name: Proximal femoral metaphyseal abnormality
def: "An anomaly of the metaphysis of the proximal femur (close to the hip)." [HPO:probinson]
synonym: "Abnormal wide portion of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025047
is_a: HP:0006489 ! Abnormality of the femoral metaphysis

[Term]
id: HP:0006432
name: Trapezoidal distal femoral condyles
xref: UMLS:C1843983
is_a: HP:0002823 ! Abnormality of femur morphology

[Term]
id: HP:0006433
name: Dysplastic radii
synonym: "Radial longitudinal deficiency" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025046
is_a: HP:0003330 ! Abnormal bone structure
is_a: HP:0045009 ! Abnormal morphology of the radius

[Term]
id: HP:0006434
name: Hypoplasia of proximal radius
alt_id: HP:0006365
def: "Proximal radial shortening owing to a congenital defect of development." [HPO:probinson]
synonym: "Proximal radial shortening" EXACT []
xref: UMLS:C1859477
is_a: HP:0002984 ! Hypoplasia of the radius

[Term]
id: HP:0006436
name: Shortening of the tibia
alt_id: HP:0006445
synonym: "Marked shortening of tibia" EXACT []
synonym: "Shortening of the shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Shortening of the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1855277
is_a: HP:0005736 ! Short tibia

[Term]
id: HP:0006437
name: Disproportionate prominence of the femoral medial condyle
xref: UMLS:C1834392
is_a: HP:0002823 ! Abnormality of femur morphology

[Term]
id: HP:0006438
name: Enlargement of the distal femoral epiphysis
def: "An abnormal enlargement of the distal epiphysis of the femur." [HPO:probinson]
synonym: "Enlargement of the outermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Large distal femoral epiphyses" EXACT []
xref: UMLS:C1843105
is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis

[Term]
id: HP:0006439
name: Radioulnar dislocation
alt_id: HP:0003972
synonym: "Dislocated radioulnar joints" EXACT []
xref: UMLS:C2673394
is_a: HP:0003059 ! Abnormality of the radioulnar joints

[Term]
id: HP:0006440
name: Increased density of long bone diaphyses
synonym: "Increased density of shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1844516
is_a: HP:0006392 ! Increased density of long bones
is_a: HP:0006504 ! Anomaly of the limb diaphyses

[Term]
id: HP:0006441
name: Lateral humeral condyle aplasia
xref: UMLS:C1833878
is_a: HP:0031095 ! Abnormal humerus morphology

[Term]
id: HP:0006442
name: Hypoplasia of proximal fibula
synonym: "Small innermost upper end of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped innermost upper end of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859478
is_a: HP:0003038 ! Fibular hypoplasia

[Term]
id: HP:0006443
name: Patellar aplasia
alt_id: HP:0003046
alt_id: HP:0006475
def: "Absence of the patella." [HPO:probinson]
subset: hposlim_core
synonym: "Absent kneecap" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent patella" EXACT []
synonym: "Absent patellae" EXACT []
synonym: "Absent patellas" EXACT []
synonym: "Aplastic patellae" EXACT []
xref: UMLS:C1868578
is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella

[Term]
id: HP:0006446
name: Dysplastic patella
xref: UMLS:C1849580
is_a: HP:0003045 ! Abnormality of the patella
is_a: HP:0003330 ! Abnormal bone structure

[Term]
id: HP:0006449
name: Distal radial epiphyseal osteolysis
xref: UMLS:C1850145
is_a: HP:0010597 ! Abnormality of the distal radial epiphysis

[Term]
id: HP:0006450
name: Multicentric ossification of proximal femoral epiphyses
xref: UMLS:C1857193
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0006453
name: Lateral displacement of the femoral head
def: "A developmental anomaly with lateral displacement of the femoral head." [HPO:probinson]
synonym: "Laterally displaced femoral heads" EXACT []
xref: UMLS:C1855758
is_a: HP:0003368 ! Abnormality of the femoral head

[Term]
id: HP:0006454
name: Delayed patellar ossification
def: "Formation of bone in the patella later than normal." [HPO:probinson, pmid:6729496]
comment: The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (pmid:6729496).
synonym: "Delayed bone maturation of the knee cap" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Delayed patellae ossification" EXACT []
xref: UMLS:C4021597
xref: UMLS:C4280446
is_a: HP:0003045 ! Abnormality of the patella
is_a: HP:0003336 ! Abnormal enchondral ossification

[Term]
id: HP:0006456
name: Irregular proximal tibial epiphyses
def: "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular." [HPO:probinson]
synonym: "Irregular innermost shankbone end part" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular innermost shinbone end part" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025045
is_a: HP:0010582 ! Irregular epiphyses
is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis

[Term]
id: HP:0006459
name: Dorsal subluxation of ulna
def: "Partial dislocation of the ulna in the dorsal direction." [HPO:curators]
xref: UMLS:C1851988
is_a: HP:0002997 ! Abnormality of the ulna

[Term]
id: HP:0006460
name: Increased laxity of ankles
xref: UMLS:C1850854
is_a: HP:0003028 ! Abnormality of the ankles

[Term]
id: HP:0006461
name: Proximal femoral epiphysiolysis
alt_id: HP:0003000
def: "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt." [HPO:probinson]
synonym: "Slipped capilal femoral epiphysis" EXACT []
synonym: "Slipped capital femoral epiphyses" EXACT []
synonym: "Slipped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D060048
xref: UMLS:C0149887
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0006462
name: Generalized bone demineralization
def: "A generalized decrease in bone mineral density." [HPO:curators]
comment: The terms Osteopenia or Osteoporosis should be prefered to this term, which may be obsoleted in the future.
xref: UMLS:C1833326
is_a: HP:0004349 ! Reduced bone mineral density

[Term]
id: HP:0006463
name: Rickets of the lower limbs
xref: UMLS:C1833323
is_a: HP:0002748 ! Rickets
is_a: HP:0002814 ! Abnormality of the lower limb

[Term]
id: HP:0006465
name: Periosteal thickening of long tubular bones
def: "Thickening of the periosteum of long bone." [HPO:probinson]
xref: UMLS:C1834345
is_a: HP:0011314 ! Abnormality of long bone morphology
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0006466
name: Ankle contracture
alt_id: HP:0004985
alt_id: HP:0006403
def: "A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle." [HPO:probinson]
synonym: "Ankle contractures" EXACT []
synonym: "Contractures of the ankles" EXACT []
xref: UMLS:C1837407
is_a: HP:0003028 ! Abnormality of the ankles
is_a: HP:0005750 ! Contractures of the joints of the lower limbs

[Term]
id: HP:0006467
name: Limited shoulder movement
def: "A limitation of the range of movement of the shoulder joint." [HPO:probinson]
subset: hposlim_core
synonym: "Limited shoulder movement" EXACT layperson []
xref: UMLS:C1851313
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0003043 ! Abnormality of the shoulder

[Term]
id: HP:0006470
name: Thin long bone diaphyses
def: "Decreased width of the diaphysis of long bones." [HPO:probinson]
synonym: "Thin diaphyses of long bones" EXACT []
synonym: "Thin shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859449
is_a: HP:0006504 ! Anomaly of the limb diaphyses

[Term]
id: HP:0006471
name: Fixed elbow flexion
xref: UMLS:C4025044
is_a: HP:0006376 ! Limited elbow flexion

[Term]
id: HP:0006473
name: Anterior bowing of long bones
def: "An abnormal anterior curvature of a long bone." [HPO:probinson]
xref: UMLS:C1850644
is_a: HP:0006487 ! Bowing of the long bones

[Term]
id: HP:0006476
name: Abnormality of the pancreatic islet cells
alt_id: HP:0100567
def: "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." [HPO:probinson]
xref: UMLS:C4025043
is_a: HP:0012093 ! Abnormality of endocrine pancreas physiology
created_by: peter
creation_date: 2008-03-28T04:41:00Z

[Term]
id: HP:0006477
name: Abnormality of the alveolar ridges
def: "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [HPO:probinson]
synonym: "Abnormality of alveolar margin" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of dentoalveolar ridges" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Defect in alveolar ridge" EXACT []
xref: SNOMEDCT_US:235013007
xref: UMLS:C0341007
xref: UMLS:C4280445
is_a: HP:0000163 ! Abnormal oral cavity morphology
created_by: peter
creation_date: 2008-03-28T04:44:00Z

[Term]
id: HP:0006479
name: Abnormality of the dental pulp
def: "An abnormality of the dental pulp." [HPO:ibailleulforestier]
synonym: "Abnormality of tooth pulp" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Endodontic abnormality" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025042
is_a: HP:0011061 ! Abnormality of dental structure
created_by: peter
creation_date: 2008-03-28T04:46:00Z

[Term]
id: HP:0006480
name: Premature loss of teeth
alt_id: HP:0000701
alt_id: HP:0001564
alt_id: HP:0006343
def: "Premature loss of teeth not related to trauma or neglect." [HPO:ibailleulforestier]
subset: hposlim_core
synonym: "Early tooth loss" EXACT layperson []
synonym: "Loss of teeth" EXACT layperson []
synonym: "Premature exfoliation of teeth" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Premature teeth loss" EXACT layperson []
synonym: "Premature tooth loss" EXACT layperson []
xref: SNOMEDCT_US:234974002
xref: SNOMEDCT_US:42756003
xref: UMLS:C0232513
xref: UMLS:C0399385
is_a: HP:0000164 ! Abnormality of the dentition
created_by: peter
creation_date: 2008-03-28T05:03:00Z

[Term]
id: HP:0006481
name: Abnormality of primary teeth
def: "Any abnormality of the primary tooth." [HPO:ibailleulforestier]
comment: Primary teeth are also called temporary teeth or deciduous teeth.
synonym: "Abnormality of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of deciduous teeth" EXACT []
synonym: "Abnormality of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021596
is_a: HP:0000164 ! Abnormality of the dentition
created_by: peter
creation_date: 2008-03-28T05:40:00Z

[Term]
id: HP:0006482
name: Abnormality of dental morphology
alt_id: HP:0000697
def: "An abnormality of the morphology of the tooth." [HPO:ibailleulforestier]
subset: hposlim_core
synonym: "Abnormality of dental shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of shape of tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormally shaped teeth" EXACT layperson []
synonym: "Deformity of teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Dental deformity" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Dental malformations" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Malformed teeth" EXACT layperson []
synonym: "Misshapen teeth" EXACT layperson []
synonym: "Misshapened teeth" EXACT layperson []
xref: MSH:D014071
xref: SNOMEDCT_US:422775003
xref: UMLS:C0040427
xref: UMLS:C0262444
is_a: HP:0000164 ! Abnormality of the dentition
created_by: peter
creation_date: 2008-03-28T05:41:00Z

[Term]
id: HP:0006483
name: Abnormal number of teeth
def: "The presence of an altered number of of teeth." [HPO:ibailleulforestier]
comment: Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth.
synonym: "Abnormal complement of teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal number of teeth" EXACT layperson []
synonym: "Abnormal tooth count" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:335443002
xref: UMLS:C1290508
is_a: HP:0000164 ! Abnormality of the dentition
created_by: peter
creation_date: 2008-03-28T05:44:00Z

[Term]
id: HP:0006485
name: Agenesis of incisor
def: "Agenesis of incisor." [HPO:probinson]
comment: Failure of one or more incisors to develop.
synonym: "Absence of front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of incisors" RELATED layperson []
synonym: "Failure of development of incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing incisors" RELATED layperson []
xref: UMLS:C4020815
xref: UMLS:C4020816
xref: UMLS:C4083290
is_a: HP:0001592 ! Selective tooth agenesis
is_a: HP:0011064 ! Abnormal number of incisors
created_by: peter
creation_date: 2008-03-28T05:49:00Z

[Term]
id: HP:0006486
name: Abnormality of the dental root
def: "An abnormality of the dental root." [HPO:ibailleulforestier]
synonym: "Abnormality of the dental root" EXACT layperson []
synonym: "Abnormality of tooth root" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4025041
is_a: HP:0006482 ! Abnormality of dental morphology
created_by: peter
creation_date: 2008-03-28T05:52:00Z

[Term]
id: HP:0006487
name: Bowing of the long bones
alt_id: HP:0002976
alt_id: HP:0005087
alt_id: HP:0005908
alt_id: HP:0006404
alt_id: HP:0006451
alt_id: HP:0006452
def: "A bending or abnormal curvature of a long bone." [HPO:probinson]
comment: Curvatures of a long bone such as femur, tibia, or fibula.
synonym: "Bowed long bones" EXACT layperson []
synonym: "Bowing of long bones" EXACT layperson []
synonym: "Bowing of the long bones" EXACT layperson []
synonym: "Camptomelia" EXACT []
synonym: "Diaphyseal bowing" EXACT []
synonym: "Diaphyseal bowing of long bones" EXACT []
xref: UMLS:C1855340
is_a: HP:0006504 ! Anomaly of the limb diaphyses
created_by: peter
creation_date: 2008-03-28T05:56:00Z

[Term]
id: HP:0006488
name: Bowing of the arm
def: "A bending or abnormal curvature affecting a long bone of the arm." [HPO:probinson]
synonym: "Bending of the arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bowing of the arm" EXACT layperson []
xref: UMLS:C0426863
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0006487 ! Bowing of the long bones
created_by: peter
creation_date: 2008-03-28T05:57:00Z

[Term]
id: HP:0006489
name: Abnormality of the femoral metaphysis
def: "An anomaly of the femoral metaphysis." [HPO:probinson]
synonym: "Abnormality of the wide portion of the femoral bone" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025040
xref: UMLS:C4280444
is_a: HP:0002823 ! Abnormality of femur morphology
is_a: HP:0006490 ! Abnormality of lower-limb metaphyses
created_by: peter
creation_date: 2008-03-28T06:02:00Z

[Term]
id: HP:0006490
name: Abnormality of lower-limb metaphyses
synonym: "Abnormality of the wide portion of the lower-limb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025039
is_a: HP:0000944 ! Abnormality of the metaphysis
is_a: HP:0002814 ! Abnormality of the lower limb
created_by: peter
creation_date: 2008-03-28T06:02:00Z

[Term]
id: HP:0006491
name: Abnormality of the tibial metaphysis
synonym: "Abnormality of the wide portion of shankbone" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the wide portion of shinbone" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025038
is_a: HP:0002992 ! Abnormality of tibia morphology
is_a: HP:0006490 ! Abnormality of lower-limb metaphyses
created_by: peter
creation_date: 2008-03-28T06:03:00Z

[Term]
id: HP:0006492
name: Aplasia/Hypoplasia of the fibula
alt_id: HP:0005672
alt_id: HP:0006421
def: "Absence or underdevelopment of the fibula." [HPO:curators]
synonym: "Absent/small calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fibular aplasia/hypoplasia" EXACT []
synonym: "Hypoplastic/aplastic fibulae" EXACT []
xref: UMLS:C1856732
is_a: HP:0002991 ! Abnormality of fibula morphology
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
created_by: peter
creation_date: 2008-03-28T06:03:00Z

[Term]
id: HP:0006493
name: Aplasia/hypoplasia involving bones of the lower limbs
def: "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs." [HPO:probinson]
synonym: "Absent/small lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025037
is_a: HP:0040069 ! Abnormal lower limb bone morphology
is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities
created_by: peter
creation_date: 2008-03-28T06:04:00Z

[Term]
id: HP:0006494
name: Aplasia/Hypoplasia involving bones of the feet
synonym: "Absent/small foot bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped foot bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025036
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
created_by: peter
creation_date: 2008-03-28T06:08:00Z

[Term]
id: HP:0006495
name: Aplasia/Hypoplasia of the ulna
alt_id: HP:0005097
alt_id: HP:0006372
alt_id: HP:0006410
def: "Absence or underdevelopment of the ulna." [HPO:curators]
synonym: "Absence/underdevelopment of inner forearm bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Absent-hypoplastic ulnae" EXACT []
synonym: "Absent/small ulna" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Hypoplasia or unilateral/bilateral absence of ulna" EXACT []
synonym: "ulnar hypoplasia/aplasia" EXACT []
xref: UMLS:C1865571
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones
created_by: peter
creation_date: 2008-03-28T06:15:00Z

[Term]
id: HP:0006496
name: Aplasia/hypoplasia involving bones of the upper limbs
def: "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs." [HPO:probinson]
synonym: "Absent/small bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025035
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities
created_by: peter
creation_date: 2008-03-28T06:16:00Z

[Term]
id: HP:0006498
name: Aplasia/Hypoplasia of the patella
alt_id: HP:0005006
alt_id: HP:0005027
alt_id: HP:0005702
alt_id: HP:0005729
alt_id: HP:0006374
def: "Absence or underdevelopment of the patella." [HPO:curators]
synonym: "Absent or hypoplastic patellae" EXACT []
synonym: "Absent/hypoplastic patella" EXACT []
synonym: "Absent/small kneecap" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped kneecap" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplastic or hypoplastic patellae" EXACT []
synonym: "Hypoplastic or absent patella" EXACT []
synonym: "Patellar aplasia/hypoplasia" EXACT []
synonym: "Small to absent patellae" EXACT []
xref: MSH:C535568
xref: UMLS:C1868577
is_a: HP:0003045 ! Abnormality of the patella
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
created_by: peter
creation_date: 2008-03-28T06:25:00Z

[Term]
id: HP:0006499
name: Abnormality of femoral epiphysis
alt_id: HP:0006412
alt_id: HP:0008811
def: "An anomaly of a growth plate of a femur." [HPO:probinson]
synonym: "Abnormality of thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025034
is_a: HP:0002823 ! Abnormality of femur morphology
is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology
created_by: peter
creation_date: 2008-03-28T06:28:00Z

[Term]
id: HP:0006500
name: Abnormality of lower limb epiphysis morphology
def: "An anomaly of one or more epiphyses of one or both legs." []
synonym: "Abnormal shape of end part of lower limb end bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality involving the epiphyses of the lower limbs" EXACT []
xref: UMLS:C4021595
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0006505 ! Abnormality of limb epiphysis morphology
created_by: peter
creation_date: 2008-03-28T06:31:00Z

[Term]
id: HP:0006501
name: Aplasia/Hypoplasia of the radius
alt_id: HP:0005718
def: "A small/hypoplastic or absent/aplastic radius." [HPO:probinson]
synonym: "Absence or underdevelopment of the radius bone of the arm" EXACT []
synonym: "Absent/small radius" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped radius" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Radial aplasia/hypoplasia" EXACT []
xref: UMLS:C2749463
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones
created_by: peter
creation_date: 2008-03-28T06:32:00Z

[Term]
id: HP:0006502
name: Aplasia/Hypoplasia involving the carpal bones
def: "Absence or underdevelopment of the carpal bones." [HPO:curators]
synonym: "Absent/small wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025033
is_a: HP:0001191 ! Abnormality of the carpal bones
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
created_by: peter
creation_date: 2008-03-28T06:35:00Z

[Term]
id: HP:0006503
name: Aplasia/hypoplasia involving forearm bones
def: "Absence (due to failure to form) or underdevelopment of one or more forearm bones." [HPO:probinson]
synonym: "Absent/small forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025032
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0040072 ! Abnormality of forearm bone
created_by: peter
creation_date: 2008-03-28T06:45:00Z

[Term]
id: HP:0006504
name: Anomaly of the limb diaphyses
def: "A structural abnormality of a diaphysis of the arm or leg." [HPO:probinson]
synonym: "Abnormality involving the diaphyses of the limbs" EXACT []
synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021594
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0002813 ! Abnormality of limb bone morphology
created_by: peter
creation_date: 2008-03-28T06:47:00Z

[Term]
id: HP:0006505
name: Abnormality of limb epiphysis morphology
def: "An anomaly of one or more epiphyses of a limb." []
comment: An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
synonym: "Abnormal shape of end part of limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality involving the epiphyses of the limbs" EXACT []
xref: UMLS:C4021593
is_a: HP:0002813 ! Abnormality of limb bone morphology
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: peter
creation_date: 2008-03-28T06:48:00Z

[Term]
id: HP:0006507
name: Aplasia/hypoplasia of the humerus
def: "Absence (due to failure to form) or underdevelopment of the humerus." [HPO:probinson]
synonym: "Absent/small long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025031
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
created_by: peter
creation_date: 2008-03-29T09:15:00Z

[Term]
id: HP:0006508
name: Abnormality of tibial epiphyses
synonym: "Abnormality of end part of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025030
is_a: HP:0002992 ! Abnormality of tibia morphology
is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology
created_by: peter
creation_date: 2008-03-29T09:19:00Z

[Term]
id: HP:0006509
name: Diverticulosis of trachea
synonym: "Tracheal diverticulum" EXACT [http://radiopaedia.org/articles/tracheal-diverticulum, ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:14011008
xref: UMLS:C0340213
is_a: HP:0002778 ! Abnormal trachea morphology

[Term]
id: HP:0006510
name: Chronic obstructive pulmonary disease
def: "An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities." [PMID:25943942]
comment: COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases.
synonym: "COPD" EXACT HP:0045077 []
xref: MSH:D029424
xref: SNOMEDCT_US:13645005
xref: UMLS:C0024117
is_a: HP:0006536 ! Obstructive lung disease

[Term]
id: HP:0006511
name: Laryngeal stridor
def: "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat." [HPO:probinson]
comment: The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids.
synonym: "Laryngeal stidor" EXACT []
xref: MSH:D007826
xref: SNOMEDCT_US:406444002
xref: SNOMEDCT_US:41432000
xref: SNOMEDCT_US:53787002
xref: UMLS:C0023066
is_a: HP:0025424 ! Abnormal larynx physiology

[Term]
id: HP:0006514
name: Intraalveolar nodular calcifications
xref: UMLS:C4025028
is_a: HP:0002088 ! Abnormal lung morphology
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0006515
name: Interstitial pneumonitis
xref: MSH:D017563
xref: SNOMEDCT_US:64667001
xref: UMLS:C0206061
is_a: HP:0006530 ! Interstitial pulmonary abnormality

[Term]
id: HP:0006516
name: Hypersensitivity pneumonitis
xref: MSH:D000542
xref: SNOMEDCT_US:37471005
xref: UMLS:C0002390
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0006517
name: Alveolar proteinosis
def: "Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates." [HPO:probinson, pmid:22891182]
xref: MSH:D011649
xref: SNOMEDCT_US:10501004
xref: UMLS:C0034050
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0006518
name: Pulmonary venous occlusion
def: "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition." [HPO:probinson, NIHR:ldaugherty, PMID:20456932, PMID:27009171]
comment: This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough.
synonym: "Pulmonary venoocclusive disease" RELATED []
synonym: "Pulmonary venous occlusion" EXACT []
synonym: "Pulmonary venous stenosis" EXACT []
xref: Fyler:3002
xref: MSH:D011668
xref: SNOMEDCT_US:89420002
xref: UMLS:C0034091
xref: UMLS:C4280802
is_a: HP:0030968 ! Abnormal pulmonary vein morphology

[Term]
id: HP:0006519
name: Alveolar cell carcinoma
alt_id: HP:0006757
def: "Adenocarcinoma of the Bronchus." [HPO:probinson]
xref: MSH:D002282
xref: SNOMEDCT_US:112677002
xref: SNOMEDCT_US:36310008
xref: SNOMEDCT_US:373627005
xref: UMLS:C0007120
is_a: HP:0100552 ! Neoplasm of the tracheobronchial system

[Term]
id: HP:0006520
name: Progressive pulmonary function impairment
xref: UMLS:C1849570
is_a: HP:0005952 ! Decreased pulmonary function

[Term]
id: HP:0006521
name: Pulmonary lymphangiectasia
alt_id: HP:0006526
alt_id: HP:0006551
def: "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid." [HPO:probinson]
synonym: "Pulmonary lymphangiectasis" EXACT []
xref: UMLS:C1855480
is_a: HP:0006529 ! Abnormal pulmonary lymphatics
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0006522
name: Repeated pneumothoraces
synonym: "Repeated pneumothorax" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025027
is_a: HP:0002107 ! Pneumothorax

[Term]
id: HP:0006524
name: Tracheobronchial leiomyomatosis
xref: UMLS:C3806786
is_a: HP:0100552 ! Neoplasm of the tracheobronchial system

[Term]
id: HP:0006525
name: obsolete Lung segmentation defects
is_obsolete: true
replaced_by: HP:0002101

[Term]
id: HP:0006527
name: Lymphoid interstitial pneumonia
def: "A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma cells." [HPO:probinson]
comment: Associated clinical manifestations often include fever, cough, and shortness of breath.
synonym: "Lymphoid interstitial pneumonitis" EXACT []
xref: MSH:C562489
xref: SNOMEDCT_US:44274007
xref: UMLS:C0264511
is_a: HP:0006530 ! Interstitial pulmonary abnormality

[Term]
id: HP:0006528
name: Chronic lung disease
def: "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities." [IMM:tkuijpers]
synonym: "Chronic lung disease" EXACT layperson []
xref: SNOMEDCT_US:413839001
xref: UMLS:C0746102
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0006529
name: Abnormal pulmonary lymphatics
def: "An abnormality of the pulmonary lymphatic chain." [HPO:probinson]
xref: UMLS:C4025026
is_a: HP:0002088 ! Abnormal lung morphology
is_a: HP:0100763 ! Abnormality of the lymphatic system

[Term]
id: HP:0006530
name: Interstitial pulmonary abnormality
alt_id: HP:0006513
alt_id: HP:0006547
def: "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis." [HPO:probinson]
synonym: "Abnormality in area between air sacs in lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Interstitial lung disease" EXACT []
synonym: "Interstitial pulmonary disease" EXACT []
xref: MSH:D017563
xref: SNOMEDCT_US:233703007
xref: UMLS:C0206062
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0006531
name: Pleural lymphangiectasia
xref: UMLS:C1856139
is_a: HP:0002103 ! Abnormality of the pleura
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0006532
name: Recurrent pneumonia
alt_id: HP:0002095
alt_id: HP:0002096
def: "An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia." [HPO:probinson, pmid:15750465]
comment: Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences.
synonym: "Multiple pulmonary infections" EXACT []
synonym: "Pneumonia, recurrent" EXACT [HPO:skoehler]
synonym: "Pneumonia, recurrent episodes" EXACT []
synonym: "Pulmonary infection" EXACT []
synonym: "Pulmonary infections" EXACT []
synonym: "pulmonary infections, recurrent" EXACT [HPO:skoehler]
synonym: "Recurrent pneumonia" EXACT layperson []
synonym: "Recurrent pulmonary infections" EXACT []
xref: SNOMEDCT_US:128601007
xref: SNOMEDCT_US:699014000
xref: UMLS:C0694550
xref: UMLS:C0748140
xref: UMLS:C0876973
xref: UMLS:C1859117
is_a: HP:0002090 ! Pneumonia
is_a: HP:0002783 ! Recurrent lower respiratory tract infections

[Term]
id: HP:0006533
name: Bronchodysplasia
xref: UMLS:C4025025
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0006535
name: Recurrent intrapulmonary hemorrhage
def: "A recurrent hemorrhage occurring within the lung." [HPO:gcarletti]
synonym: "Recurrent bleeding into lungs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Recurrent pulmonary hemorrhage" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C3805919
is_a: HP:0040223 ! Pulmonary hemorrhage

[Term]
id: HP:0006536
name: Obstructive lung disease
alt_id: HP:0006512
def: "Obstruction of conducting airways of the lung." [HPO:probinson]
synonym: "Obstructive lung disease" EXACT layperson []
xref: MSH:D008173
xref: UMLS:C0600260
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0006538
name: Recurrent bronchopulmonary infections
def: "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections." [HPO:probinson]
synonym: "Recurrent infections in bronchi and lungs" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2169795
is_a: HP:0002205 ! Recurrent respiratory infections

[Term]
id: HP:0006539
name: Bronchial cartilage hypoplasia
synonym: "Underdevelopment of the bronical cartilage" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025024
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0006541
name: Chronic obstructive airway disease from birth
synonym: "Chronic obstructive airway disease from birth" EXACT layperson []
xref: UMLS:C3550579
is_a: HP:0006536 ! Obstructive lung disease

[Term]
id: HP:0006543
name: Cardiorespiratory arrest
xref: MSH:D006323
xref: SNOMEDCT_US:410430005
xref: UMLS:C0600228
is_a: HP:0005943 ! Respiratory arrest

[Term]
id: HP:0006544
name: Extrapulmonary sequestrum
def: "A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree." [HPO:probinson]
comment: Extrapulmonary sequestra nearly all appear on the left side.
synonym: "Diaphragmatic sequestrum" RELATED []
xref: UMLS:C4020814
xref: UMLS:C4025023
is_a: HP:0100632 ! Pulmonary sequestration

[Term]
id: HP:0006548
name: Pulmonary arteriovenous malformation
alt_id: HP:0002114
alt_id: HP:0006537
synonym: "Pulmonary av malformation" EXACT []
xref: Fyler:2210
xref: UMLS:C1857690
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0006549
name: Unilateral primary pulmonary dysgenesis
synonym: "Primary pulmonary dysgenesis, unilateral" EXACT []
xref: UMLS:C4021592
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0006552
name: Fibrocystic lung disease
xref: UMLS:C1397290
is_a: HP:0005948 ! Multiple pulmonary cysts

[Term]
id: HP:0006554
name: Acute hepatic failure
alt_id: HP:0006556
def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators]
synonym: "Acute liver failure" EXACT layperson []
xref: MSH:D017114
xref: SNOMEDCT_US:197270009
xref: SNOMEDCT_US:235884008
xref: UMLS:C0162557
is_a: HP:0001399 ! Hepatic failure

[Term]
id: HP:0006555
name: Diffuse hepatic steatosis
def: "A diffuse form of hepatic steatosis." [HPO:probinson]
synonym: "Hepatic steatosis, diffuse" EXACT []
xref: UMLS:C1849686
is_a: HP:0001397 ! Hepatic steatosis

[Term]
id: HP:0006557
name: Polycystic liver disease
xref: MSH:C536330
xref: SNOMEDCT_US:72925005
xref: UMLS:C0158683
is_a: HP:0006706 ! Cystic liver disease

[Term]
id: HP:0006558
name: Decreased mitochondrial complex III activity in liver tissue
def: "Decreased activity of complex III of the mitochondrion in the liver." [HPO:probinson]
comment: Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane.
xref: UMLS:C4025022
is_a: HP:0025155 ! Abnormality of hepatobiliary system physiology

[Term]
id: HP:0006559
name: Hepatic calcification
def: "The presence of abnormal calcium deposition in the liver." [HPO:probinson]
synonym: "Liver calcifications" EXACT []
xref: UMLS:C1696466
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0006560
name: Biliary hyperplasia
def: "Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia." [HPO:probinson]
synonym: "Bile duct hyperplasia" EXACT []
xref: UMLS:C3672440
xref: UMLS:C3686778
is_a: HP:0012440 ! Abnormal biliary tract morphology

[Term]
id: HP:0006561
name: Lipid accumulation in hepatocytes
xref: UMLS:C1837257
is_a: HP:0031137 ! Storage in hepatocytes

[Term]
id: HP:0006562
name: Viral hepatitis
def: "Inflammation of the liver due to infection with a virus." [HPO:probinson]
xref: SNOMEDCT_US:3738000
xref: UMLS:C0042721
is_a: HP:0012115 ! Hepatitis

[Term]
id: HP:0006563
name: Malformation of the hepatic ductal plate
xref: UMLS:C1857519
is_a: HP:0004297 ! Abnormality of the biliary system

[Term]
id: HP:0006564
name: Fluctuating hepatomegaly
def: "Intermittently increased size of the liver." [HPO:probinson]
xref: UMLS:C1835881
is_a: HP:0002240 ! Hepatomegaly

[Term]
id: HP:0006565
name: Increased hepatocellular lipid droplets
def: "An abnormal increase in the amount of intracellular lipid droplets in hepatocytes." [HPO:probinson]
comment: Lipid droplets, rich in triglycerides and cholesterol esters, are cellular ipid storage organelles.
xref: UMLS:C4025021
is_a: HP:0006561 ! Lipid accumulation in hepatocytes

[Term]
id: HP:0006566
name: Neonatal cholestatic liver disease
xref: UMLS:C1859162
is_a: HP:0002611 ! Cholestatic liver disease

[Term]
id: HP:0006568
name: Increased hepatic glycogen content
def: "An increase in the amount of glycogen stored in hepatocytes compared to normal." [HPO:probinson]
comment: Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity.
synonym: "Increased liver glycogen content" EXACT []
xref: UMLS:C1856285
is_a: HP:0500030 ! Abnormal hepatic glycogen storage

[Term]
id: HP:0006571
name: Reduced number of intrahepatic bile ducts
def: "The presence of reduced numbers of intrahepatic bile duct than normal." [HPO:probinson]
synonym: "Hepatic ductopenia" EXACT []
synonym: "Intrahepatic duct deficiency" RELATED []
xref: UMLS:C1861621
xref: UMLS:C4021591
is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct

[Term]
id: HP:0006572
name: Subacute progressive viral hepatitis
xref: UMLS:C1861901
is_a: HP:0006562 ! Viral hepatitis

[Term]
id: HP:0006573
name: Acute hepatic steatosis
def: "An acute form of hepatic steatosis." [HPO:probinson]
synonym: "Acute fatty liver" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4025020
is_a: HP:0001397 ! Hepatic steatosis

[Term]
id: HP:0006574
name: Hepatic arteriovenous malformation
alt_id: HP:0006569
synonym: "Liver arteriovenous malformation" EXACT []
xref: SNOMEDCT_US:84150000
xref: UMLS:C0520557
is_a: HP:0006707 ! Abnormality of the hepatic vasculature
is_a: HP:0100026 ! Arteriovenous malformation

[Term]
id: HP:0006575
name: Intrahepatic cholestasis with episodic jaundice
xref: UMLS:C4025019
is_a: HP:0001406 ! Intrahepatic cholestasis

[Term]
id: HP:0006576
name: Hepatic vascular malformations
synonym: "Liver vascular malformations" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1861790
is_a: HP:0006707 ! Abnormality of the hepatic vasculature

[Term]
id: HP:0006577
name: Macronodular cirrhosis
def: "A type of cirrhosis characterized by the presence of large regenerative nodules." [HPO:probinson]
comment: In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm.
xref: SNOMEDCT_US:43904005
xref: SNOMEDCT_US:86454000
xref: UMLS:C2004456
is_a: HP:0001394 ! Cirrhosis

[Term]
id: HP:0006579
name: Prolonged neonatal jaundice
alt_id: HP:0000986
def: "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants." [HPO:probinson]
synonym: "Jaundice, neonatal" RELATED [HPO:skoehler]
synonym: "Neonatal jaundice" EXACT []
synonym: "Prolonged yellowing of skin in newborn" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D007567
xref: SNOMEDCT_US:387712008
xref: UMLS:C0022353
xref: UMLS:C1859236
is_a: HP:0000952 ! Jaundice

[Term]
id: HP:0006580
name: Portal fibrosis
def: "Fibroblast proliferation and fiber expansion from the portal areas to the lobule." [HPO:probinson]
comment: Portal fibrosis can be seen in viral hepatitis and other types of liver disease.
synonym: "Portal fibrosis shown on biopsy" RELATED [HPO:skoehler]
xref: UMLS:C2677002
xref: UMLS:C3805083
is_a: HP:0004297 ! Abnormality of the biliary system

[Term]
id: HP:0006581
name: Depletion of mitochondrial DNA in liver
def: "An abnormal reduction in the number of mitochondria in hepatocytes." [HPO:probinson]
xref: UMLS:C4025018
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0006582
name: Reye syndrome-like episodes
def: "Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure." []
comment: This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810].
xref: UMLS:C1850413
is_a: HP:0025155 ! Abnormality of hepatobiliary system physiology

[Term]
id: HP:0006583
name: Fatal liver failure in infancy
synonym: "Fatal liver failure in infancy" EXACT layperson []
xref: UMLS:C4025017
is_a: HP:0001399 ! Hepatic failure

[Term]
id: HP:0006584
name: Small abnormally formed scapulae
alt_id: HP:0006629
synonym: "Small abnormally formed scapula" EXACT []
synonym: "Small abnormally formed shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861226
is_a: HP:0000882 ! Hypoplastic scapulae

[Term]
id: HP:0006585
name: Congenital pseudoarthrosis of the clavicle
alt_id: HP:0006612
alt_id: HP:0006661
def: "The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle." [HPO:probinson, pmid:22295044]
comment: In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See pmid:22295044, Figure 1, for the radiographic appearance of this feature.
synonym: "Bipartite clavicle" RELATED []
synonym: "Clavicle pseudoarthrosis" EXACT []
synonym: "Pseudoarthrosis of clavicle" EXACT []
xref: SNOMEDCT_US:249685004
xref: SNOMEDCT_US:249690001
xref: UMLS:C0426806
xref: UMLS:C0426811
is_a: HP:0005864 ! Pseudoarthrosis
is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles

[Term]
id: HP:0006587
name: Straight clavicles
def: "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved ." [HPO:probinson]
synonym: "Straight collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025016
is_a: HP:0000889 ! Abnormality of the clavicle

[Term]
id: HP:0006589
name: Flaring of lower rib cage
synonym: "Flaring of lower rib cage" EXACT layperson []
xref: UMLS:C1855196
is_a: HP:0000904 ! Flaring of rib cage

[Term]
id: HP:0006590
name: Premature sternal synostosis
def: "Prematurely closed sternal sutures." [HPO:probinson, pmid:13542801]
synonym: "Prematurely closed sternal sutures" EXACT []
xref: UMLS:C4021590
is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum

[Term]
id: HP:0006591
name: Absent glenoid fossa
def: "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson]
synonym: "Aplasia of the glenoid fossa" EXACT []
xref: UMLS:C4021589
is_a: HP:0011912 ! Abnormality of the glenoid fossa

[Term]
id: HP:0006593
name: Anomalous rib insertion to vertebrae
xref: UMLS:C1861704
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0006595
name: Scapulohumeral synostosis
alt_id: HP:0010792
def: "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint." [HPO:probinson]
synonym: "Fusion of shoulder blade to long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Humero-scapulo synostosis" EXACT []
synonym: "Humeroscapular synostosis" EXACT []
synonym: "Synostosis of shoulder joint" EXACT []
xref: UMLS:C1865362
is_a: HP:0000782 ! Abnormality of the scapula
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0003043 ! Abnormality of the shoulder
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0100238 ! Synostosis involving bones of the upper limbs

[Term]
id: HP:0006596
name: Restricted chest movement
synonym: "Restricted chest movement" EXACT layperson []
xref: UMLS:C4025015
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0001547 ! Abnormality of the rib cage

[Term]
id: HP:0006597
name: Diaphragmatic paralysis
def: "The presence of a paralyzed diaphragm." [HPO:probinson, pmid:3612666]
comment: Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue.
synonym: "Diaphragmatic paralysis" EXACT layperson []
synonym: "Paralyzed diaphragm" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D012133
xref: SNOMEDCT_US:64228003
xref: UMLS:C0035232
is_a: HP:0003470 ! Paralysis
is_a: HP:0009113 ! Diaphragmatic weakness

[Term]
id: HP:0006598
name: Irregular ossification at anterior rib ends
xref: UMLS:C1850083
is_a: HP:0012306 ! Abnormal rib ossification

[Term]
id: HP:0006599
name: Medial widening of clavicles
xref: UMLS:C1866729
is_a: HP:0000889 ! Abnormality of the clavicle

[Term]
id: HP:0006600
name: Progressive calcification of costochondral cartilage
xref: UMLS:C1968577
is_a: HP:0000919 ! Abnormality of the costochondral junction
is_a: HP:0100593 ! Calcification of cartilage

[Term]
id: HP:0006603
name: Flared, irregular rib ends
synonym: "Flared, irregular rib ends" EXACT layperson []
xref: UMLS:C1865833
is_a: HP:0000887 ! Cupped ribs

[Term]
id: HP:0006606
name: Irregular chondrocostal junctions
alt_id: HP:0006658
def: "Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson]
comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum.
synonym: "Irregular costochondral margins" EXACT []
xref: UMLS:C1861199
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0006607
name: Precocious costochondral ossification
def: "Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage." [HPO:probinson, pmid:10489169]
comment: The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients.
xref: UMLS:C1849049
is_a: HP:0000919 ! Abnormality of the costochondral junction
is_a: HP:0004348 ! Abnormality of bone mineral density
is_a: HP:0012306 ! Abnormal rib ossification

[Term]
id: HP:0006608
name: Midclavicular hypoplasia
def: "Underdevelopment of the middle portion of the clavicle." [HPO:probinson]
synonym: "Underdeveloped middle portion of the collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1844530
is_a: HP:0000894 ! Short clavicles

[Term]
id: HP:0006610
name: Wide intermamillary distance
alt_id: HP:0000779
alt_id: HP:0001554
def: "A larger than usual distance between the left and right nipple." [HPO:probinson]
subset: hposlim_core
synonym: "Wide-spaced nipples" EXACT layperson []
synonym: "Widely spaced nipples" EXACT layperson []
synonym: "Widely-spaced nipples" EXACT layperson []
xref: SNOMEDCT_US:423230008
xref: UMLS:C1827524
is_a: HP:0040157 ! Abnormal intermamillary distance

[Term]
id: HP:0006611
name: Decreased number of sternal ossification centers
def: "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms." [HPO:probinson, pmid:10204210]
xref: UMLS:C1856223
is_a: HP:0011863 ! Abnormal sternal ossification

[Term]
id: HP:0006615
name: Absent in utero rib ossification
def: "Lack of formation and mineralization of the ribs in utero." [HPO:probinson]
synonym: "Absent rib calcification in utero" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1842695
is_a: HP:0012306 ! Abnormal rib ossification

[Term]
id: HP:0006619
name: Anterior rib punctate calcifications
def: "Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs." [HPO:probinson]
xref: UMLS:C1859120
is_a: HP:0012306 ! Abnormal rib ossification
is_a: HP:0040059 ! Calcification of ribs

[Term]
id: HP:0006623
name: Costochondral joint sclerosis
def: "Abnormal increase in density of the tissue at the costochondral junctions." [HPO:probinson]
synonym: "Sclerotic costochondral joints" EXACT []
xref: UMLS:C4021588
is_a: HP:0000919 ! Abnormality of the costochondral junction

[Term]
id: HP:0006625
name: Multifocal breast carcinoma
def: "Breast carcinoma that is bilateral or otherwise multifocal." [HPO:probinson]
synonym: "Multifocal breast cancer" EXACT []
xref: UMLS:C2986662
is_a: HP:0003002 ! Breast carcinoma

[Term]
id: HP:0006628
name: Absent sternal ossification
alt_id: HP:0006654
alt_id: HP:0006666
def: "Lack of formation of mineralized bony tissue of the sternum." [HPO:probinson]
synonym: "Absent bone maturation in sternum" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent sternal mineralization" EXACT []
synonym: "Lack of sternal ossification" EXACT []
xref: UMLS:C1857074
xref: UMLS:C4280443
is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum
is_a: HP:0011863 ! Abnormal sternal ossification

[Term]
id: HP:0006631
name: Hypoplastic distal segments of scapulae
synonym: "Small distal segments of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small outermost segments of shoulder blade" BROAD []
synonym: "Underdeveloped outermost segments of shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025014
is_a: HP:0000882 ! Hypoplastic scapulae

[Term]
id: HP:0006633
name: Glenoid fossa hypoplasia
alt_id: HP:0006632
def: "Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus." [HPO:probinson]
subset: hposlim_core
synonym: "Glenoid hypoplasia" EXACT []
synonym: "Hypoplastic glenoid fossa" EXACT []
xref: UMLS:C1834384
is_a: HP:0011912 ! Abnormality of the glenoid fossa

[Term]
id: HP:0006634
name: Osteosclerosis of ribs
def: "Osteosclerosis of ribs (increased density related to increased bone mass)." [HPO:probinson]
synonym: "Increased bone density in ribs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4025013
is_a: HP:0012306 ! Abnormal rib ossification

[Term]
id: HP:0006637
name: Sternal punctate calcifications
xref: UMLS:C1859121
is_a: HP:0000766 ! Abnormality of the sternum
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0006638
name: Midclavicular aplasia
def: "Developmental defect resulting in congenital absence of the middle portion of the clavicle." [HPO:probinson]
synonym: "Missing middle part of collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1844529
is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles

[Term]
id: HP:0006640
name: Multiple rib fractures
def: "More than one fracture of the ribs." [HPO:probinson]
synonym: "Multiple rib fractures" EXACT layperson []
xref: SNOMEDCT_US:1261007
xref: UMLS:C0272567
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0006641
name: Prominent floating ribs
synonym: "Prominent floating ribs" EXACT layperson []
xref: UMLS:C4025012
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0006642
name: Large sternal ossification centers
xref: UMLS:C1865241
is_a: HP:0011863 ! Abnormal sternal ossification

[Term]
id: HP:0006643
name: Fused sternal ossification centers
xref: UMLS:C1859376
is_a: HP:0011863 ! Abnormal sternal ossification

[Term]
id: HP:0006644
name: Thoracic dysplasia
xref: UMLS:C1406921
is_a: HP:0001547 ! Abnormality of the rib cage

[Term]
id: HP:0006645
name: Thin clavicles
def: "Abnormally reduced diameter (cross section) of the clavicles." [HPO:probinson]
synonym: "Thin collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:298764003
xref: UMLS:C0575535
is_a: HP:0000889 ! Abnormality of the clavicle

[Term]
id: HP:0006646
name: Costal cartilage calcification
alt_id: HP:0006662
def: "Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax." [HPO:probinson]
synonym: "Cartilaginous ossification of rib" EXACT []
xref: UMLS:C1855608
is_a: HP:0012306 ! Abnormal rib ossification
is_a: HP:0100593 ! Calcification of cartilage

[Term]
id: HP:0006647
name: Congenital microthorax
xref: UMLS:C4025011
is_a: HP:0005257 ! Thoracic hypoplasia

[Term]
id: HP:0006649
name: Costochondral pain
def: "Chest wall pain in the area of the costochondral junctions." [HPO:probinson]
comment: Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis.
synonym: "Costochondral junction pain" EXACT []
xref: UMLS:C4021587
is_a: HP:0000919 ! Abnormality of the costochondral junction
is_a: HP:0012531 ! Pain

[Term]
id: HP:0006650
name: Thickening of the lateral border of the scapula
synonym: "Thickening of the lateral border of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834383
is_a: HP:0000782 ! Abnormality of the scapula

[Term]
id: HP:0006655
name: Rib segmentation abnormalities
xref: UMLS:C1968999
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0006657
name: Hypoplasia of first ribs
alt_id: HP:0006614
alt_id: HP:0006653
synonym: "Hypoplastic first rib" EXACT []
synonym: "Hypoplastic first ribs" EXACT []
synonym: "Small first rib" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped first rib" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834386
is_a: HP:0000773 ! Short ribs

[Term]
id: HP:0006659
name: Internally rotated shoulders
synonym: "Internally rotated shoulders" EXACT layperson []
xref: UMLS:C1862491
is_a: HP:0003043 ! Abnormality of the shoulder

[Term]
id: HP:0006660
name: Aplastic clavicle
def: "Absence of the clavicles as a developmental defect." [HPO:probinson]
subset: hposlim_core
synonym: "Absent clavicles" EXACT []
synonym: "Absent collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplastic clavicles" EXACT HP:0045078 []
xref: UMLS:C1857665
is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles

[Term]
id: HP:0006665
name: Coat hanger sign of ribs
def: "An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger)." [HPO:probinson, pmid:12712270, pmid:21607596]
comment: The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14.
synonym: "Coat hanger sign of ribs" EXACT layperson []
xref: UMLS:C4025010
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0006668
name: Twelfth rib hypoplasia
synonym: "Small twelfth rib" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped twelfth rib" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859361
is_a: HP:0000773 ! Short ribs

[Term]
id: HP:0006670
name: Impaired myocardial contractility
xref: UMLS:C4025009
is_a: HP:0006673 ! Reduced systolic function

[Term]
id: HP:0006671
name: Paroxysmal atrial tachycardia
xref: SNOMEDCT_US:195069001
xref: UMLS:C0030587
is_a: HP:0004763 ! Paroxysmal supraventricular tachycardia

[Term]
id: HP:0006673
name: Reduced systolic function
xref: UMLS:C4025008
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0006677
name: Prolonged QRS complex
def: "Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec." [HPO:probinson]
synonym: "Prolonged QRS complex on EKG" EXACT []
xref: SNOMEDCT_US:991002
xref: UMLS:C0235475
is_a: HP:0025074 ! Abnormal QRS complex

[Term]
id: HP:0006679
name: Granulomatous coronary arteritis
def: "Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells." [HPO:probinson, PMID:937513]
comment: A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
xref: UMLS:C4025007
is_a: HP:0006704 ! Abnormal coronary artery morphology
is_a: HP:0012089 ! Arteritis

[Term]
id: HP:0006681
name: Absent atrioventricular node
xref: UMLS:C4025006
is_a: HP:0001678 ! Atrioventricular block

[Term]
id: HP:0006682
name: Ventricular extrasystoles
alt_id: HP:0006678
def: "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [HPO:probinson]
comment: A premature ventricular contraction may be perceived as a skipped beat or as palpitations.
synonym: "Extra heart beat" EXACT layperson []
synonym: "Missed heartbeat" RELATED layperson []
synonym: "Premature ventricular contractions" EXACT []
synonym: "Skipped heartbeat" RELATED layperson []
xref: MSH:D018879
xref: SNOMEDCT_US:17338001
xref: SNOMEDCT_US:251175005
xref: UMLS:C0151636
is_a: HP:0004308 ! Ventricular arrhythmia

[Term]
id: HP:0006683
name: Abnormal ventricular filling
def: "An abnormality of filling of a ventricle with blood during diastole." [HPO:probinson]
comment: Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling.
xref: UMLS:C4025005
is_a: HP:0030872 ! Abnormal cardiac ventricular function

[Term]
id: HP:0006684
name: Ventricular preexcitation with multiple accessory pathways
def: "A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction." [HPO:probinson]
xref: UMLS:C4025004
is_a: HP:0004309 ! Ventricular preexcitation

[Term]
id: HP:0006685
name: Endocardial fibrosis
alt_id: HP:0005169
def: "The presence of excessive connective tissue in the endocardium." [HPO:probinson, PMID:29043203]
synonym: "Endomyocardial fibrosis" EXACT []
xref: MSH:D004719
xref: SNOMEDCT_US:398716006
xref: UMLS:C0553980
is_a: HP:0004306 ! Abnormal endocardium morphology

[Term]
id: HP:0006687
name: Aortic tortuosity
def: "Abnormal tortuous (i.e., twisted) form of the aorta." [HPO:probinson]
xref: UMLS:C4025003
is_a: HP:0001679 ! Abnormal aortic morphology

[Term]
id: HP:0006688
name: Paroxysmal tachycardia
xref: MSH:D013614
xref: SNOMEDCT_US:12026006
xref: UMLS:C0039236
is_a: HP:0001649 ! Tachycardia

[Term]
id: HP:0006689
name: Bacterial endocarditis
def: "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken]
synonym: "Infective endocarditis" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D004697
xref: SNOMEDCT_US:301183007
xref: UMLS:C0014121
is_a: HP:0100584 ! Endocarditis
created_by: doelkens
creation_date: 2010-12-27T02:57:48Z

[Term]
id: HP:0006690
name: Myocardial calcification
def: "Calcium deposition in the myocardium." [HPO:probinson]
comment: Calcification affecting the muscle layer of the heart.
synonym: "Calcified myocardium" EXACT []
xref: Fyler:1889
xref: UMLS:C1096561
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology
is_a: HP:0011915 ! Cardiovascular calcification

[Term]
id: HP:0006691
name: Pulmonic valve myxoma
xref: UMLS:C4025002
is_a: HP:0001641 ! Abnormal pulmonary valve morphology

[Term]
id: HP:0006692
name: Short chordae tendineae of the tricuspid valve
def: "Abnormally short chordae tendineae of the tricuspid valve." [HPO:probinson]
comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve.
xref: UMLS:C4025001
is_a: HP:0031442 ! Abnormal tricuspid chordae tendinae morphology

[Term]
id: HP:0006693
name: Myocardial steatosis
def: "Steatosis in the myocardium." [HPO:probinson]
xref: UMLS:C4025000
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology

[Term]
id: HP:0006694
name: Early progressive calcific cardiac valvular disease
xref: UMLS:C4024999
is_a: HP:0005146 ! Cardiac valve calcification

[Term]
id: HP:0006695
name: Atrioventricular canal defect
alt_id: HP:0005139
alt_id: HP:0005298
alt_id: HP:0010439
def: "A defect of the atrioventricular septum of the heart." [HPO:probinson, pmid:12632326]
comment: During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal.
synonym: "Atrioventricular septal defect" EXACT []
synonym: "Endocardial cushion defect" EXACT []
synonym: "Hole in center of heart" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
xref: Fyler:0606
xref: Fyler:1100
xref: Fyler:606
xref: MSH:C562831
xref: MSH:D004694
xref: SNOMEDCT_US:15459006
xref: UMLS:C0014116
xref: UMLS:C1389016
is_a: HP:0001671 ! Abnormal cardiac septum morphology

[Term]
id: HP:0006696
name: Polymorphic and polytopic ventricular extrasystoles
xref: UMLS:C4024998
is_a: HP:0006682 ! Ventricular extrasystoles

[Term]
id: HP:0006698
name: Dilatation of the ventricular cavity
def: "A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography.
synonym: "Ventricular aneurysm" NARROW []
xref: SNOMEDCT_US:90539001
xref: UMLS:C0392464
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology
is_a: HP:0002617 ! Dilatation

[Term]
id: HP:0006699
name: Premature atrial contractions
def: "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites." []
synonym: "Atrial ectopic beats" EXACT []
synonym: "Atrial premature complex" EXACT []
synonym: "Ectopic supraventricular rhythms" EXACT []
synonym: "PACs" EXACT HP:0045077 []
synonym: "Premature supraventricular beats" EXACT []
xref: MSH:D018880
xref: SNOMEDCT_US:284470004
xref: SNOMEDCT_US:287057009
xref: SNOMEDCT_US:406461004
xref: SNOMEDCT_US:63593006
xref: UMLS:C0033036
is_a: HP:0005115 ! Supraventricular arrhythmia

[Term]
id: HP:0006702
name: Coronary artery dissection
def: "Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery." [HPO:probinson, pmid:20448134]
xref: MSH:C565153
xref: UMLS:C1852540
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0006703
name: Aplasia/Hypoplasia of the lungs
synonym: "Absent/small lungs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped lungs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024996
is_a: HP:0002088 ! Abnormal lung morphology
created_by: peter
creation_date: 2008-03-29T03:17:00Z

[Term]
id: HP:0006704
name: Abnormal coronary artery morphology
def: "Any structural abnormality of the coronary arteries." [HPO:probinson]
xref: Fyler:3100
xref: SNOMEDCT_US:28574005
xref: UMLS:C0158623
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: peter
creation_date: 2008-03-29T03:33:00Z

[Term]
id: HP:0006705
name: Abnormal atrioventricular valve morphology
alt_id: HP:0006675
def: "An abnormality of an atrioventricular valve." [HPO:probinson]
synonym: "Abnormality of the atrioventricular valves" EXACT []
xref: UMLS:C4024995
is_a: HP:0001654 ! Abnormal heart valve morphology
created_by: peter
creation_date: 2008-03-29T03:34:00Z

[Term]
id: HP:0006706
name: Cystic liver disease
xref: MSH:C536330
xref: SNOMEDCT_US:72925005
xref: UMLS:C0158683
is_a: HP:0410042 ! Abnormal liver morphology
created_by: peter
creation_date: 2008-03-29T03:37:00Z

[Term]
id: HP:0006707
name: Abnormality of the hepatic vasculature
def: "An abnormality of the hepatic vasculature." [HPO:probinson]
synonym: "Abnormality of liver blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the liver vasculature" EXACT []
xref: UMLS:C4024994
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0410042 ! Abnormal liver morphology
created_by: peter
creation_date: 2008-03-29T03:41:00Z

[Term]
id: HP:0006709
name: Aplasia/Hypoplasia of the nipples
alt_id: HP:0006602
alt_id: HP:0006669
synonym: "Absent/rudimentary nipples" EXACT []
synonym: "Absent/small nipples" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped nipples" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Nipples absent or rudimentary" EXACT []
xref: UMLS:C3150086
is_a: HP:0004404 ! Abnormal nipple morphology
created_by: peter
creation_date: 2008-03-29T03:51:00Z

[Term]
id: HP:0006710
name: Aplasia/Hypoplasia of the clavicles
def: "Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators]
synonym: "Absent/small collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024993
is_a: HP:0000889 ! Abnormality of the clavicle
is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax
created_by: peter
creation_date: 2008-03-29T03:53:00Z

[Term]
id: HP:0006711
name: Aplasia/Hypoplasia involving bones of the thorax
synonym: "Absent/small outermost thorax bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped thorax bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024992
is_a: HP:0000765 ! Abnormality of the thorax
is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton
created_by: peter
creation_date: 2008-03-29T03:53:00Z

[Term]
id: HP:0006712
name: Aplasia/Hypoplasia of the ribs
alt_id: HP:0006636
synonym: "Absent/small ribs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped ribs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypoplastic or missing ribs" EXACT []
xref: UMLS:C1847363
is_a: HP:0000772 ! Abnormality of the ribs
is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax
created_by: peter
creation_date: 2008-03-29T03:54:00Z

[Term]
id: HP:0006713
name: Aplasia/Hypoplasia of the scapulae
synonym: "Absent/small shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024991
is_a: HP:0000782 ! Abnormality of the scapula
is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax
created_by: peter
creation_date: 2008-03-29T03:58:00Z

[Term]
id: HP:0006714
name: Aplasia/Hypoplasia of the sternum
synonym: "Absent/small sternum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped sternum" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024990
is_a: HP:0000766 ! Abnormality of the sternum
is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax
created_by: peter
creation_date: 2008-03-29T04:01:00Z

[Term]
id: HP:0006715
name: Glomus tympanicum paraganglioma
alt_id: HP:0002892
synonym: "Tympanic nerve tumor" EXACT []
synonym: "Tympanic nerve tumors" EXACT []
xref: UMLS:C1866555
is_a: HP:0002864 ! Paraganglioma of head and neck

[Term]
id: HP:0006716
name: Hereditary nonpolyposis colorectal carcinoma
xref: UMLS:C4024989
is_a: HP:0002672 ! Gastrointestinal carcinoma
is_a: HP:0100834 ! Neoplasm of the large intestine

[Term]
id: HP:0006717
name: Peripheral neuroepithelioma
xref: SNOMEDCT_US:254764001
xref: UMLS:C3489398
is_a: HP:0100007 ! Neoplasm of the peripheral nervous system

[Term]
id: HP:0006719
name: Benign gastrointestinal tract tumors
synonym: "Benign GI tract tumors" EXACT HP:0045077 []
synonym: "Non-cancerous GI tumors" EXACT layperson [ORCID:0000-0001-9114-8737]
xref: SNOMEDCT_US:92118007
xref: UMLS:C0497538
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0006721
name: Acute lymphoblastic leukemia
alt_id: HP:0004803
alt_id: HP:0005555
def: "A form of acute leukemia characterized by excess lympoblasts." [HPO:probinson]
synonym: "Acute lymphatic leukemia" EXACT []
synonym: "Acute lymphocytic leukemia" EXACT []
synonym: "Acute lymphoid leukemia" EXACT []
xref: SNOMEDCT_US:128822004
xref: SNOMEDCT_US:91857003
xref: UMLS:C0023449
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0006722
name: Small intestine carcinoid
xref: UMLS:C1868072
is_a: HP:0100570 ! Carcinoid tumor
is_a: HP:0100833 ! Neoplasm of the small intestine

[Term]
id: HP:0006723
name: Intestinal carcinoid
xref: UMLS:C4024988
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
is_a: HP:0100570 ! Carcinoid tumor

[Term]
id: HP:0006725
name: Pancreatic adenocarcinoma
def: "The presence of an adenocarcinoma of the pancreas." [HPO:probinson]
xref: NCIT:C2852
xref: SNOMEDCT_US:700423003
xref: UMLS:C0281361
is_a: HP:0002894 ! Neoplasm of the pancreas

[Term]
id: HP:0006727
name: T-cell acute lymphoblastic leukemias
def: "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females." [NCIT:C3183]
xref: MSH:D054218
xref: SNOMEDCT_US:128824003
xref: SNOMEDCT_US:277575008
xref: UMLS:C1961099
is_a: HP:0006721 ! Acute lymphoblastic leukemia

[Term]
id: HP:0006729
name: Retroperitoneal chemodectomas
xref: NCIT:C3308
xref: UMLS:C4024987
is_a: HP:0011793 ! Neoplasm by anatomical site

[Term]
id: HP:0006731
name: Follicular thyroid carcinoma
def: "The presence of an follicular adenocarcinoma of the thyroid gland." [HPO:probinson]
xref: MSH:D018263
xref: NCIT:C8054
xref: SNOMEDCT_US:255028004
xref: SNOMEDCT_US:28173006
xref: SNOMEDCT_US:5257006
xref: UMLS:C0206682
is_a: HP:0002890 ! Thyroid carcinoma

[Term]
id: HP:0006732
name: Papillary renal cell carcinoma type 2
def: "A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification." [DDD:rscott, pmid:12429790]
comment: Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800).
xref: UMLS:C1336840
is_a: HP:0006766 ! Papillary renal cell carcinoma

[Term]
id: HP:0006733
name: Acute megakaryocytic leukemia
def: "A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts." []
synonym: "AMegL" EXACT HP:0045077 []
xref: MSH:D015470
xref: SNOMEDCT_US:17788007
xref: SNOMEDCT_US:413443009
xref: SNOMEDCT_US:91861009
xref: UMLS:C0023467
is_a: HP:0002488 ! Acute leukemia

[Term]
id: HP:0006735
name: Renal cortical adenoma
def: "The presence of an adenoma in the cortex of the kidney." [HPO:probinson]
synonym: "Kidney cortical adenoma" EXACT [ORCID:0000-0001-5208-3432]
xref: NCIT:C2855
xref: SNOMEDCT_US:254919009
xref: UMLS:C0346253
is_a: HP:0009726 ! Renal neoplasm

[Term]
id: HP:0006737
name: Extraadrenal pheochromocytoma
alt_id: HP:0006764
def: "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [HPO:probinson]
synonym: "Pheochromocytoma, extraadrenal" EXACT []
xref: MSH:D010673
xref: UMLS:C1257877
is_a: HP:0002666 ! Pheochromocytoma

[Term]
id: HP:0006739
name: Squamous cell carcinoma of the skin
alt_id: HP:0007614
def: "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators]
synonym: "Squamous skin carcinoma" EXACT []
xref: SNOMEDCT_US:254651007
xref: UMLS:C0553723
is_a: HP:0002860 ! Squamous cell carcinoma

[Term]
id: HP:0006740
name: Transitional cell carcinoma of the bladder
def: "The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell." [HPO:probinson]
synonym: "Transitional cell bladder carcinoma" EXACT []
xref: NCIT:C2930
xref: SNOMEDCT_US:255109008
xref: UMLS:C0279680
is_a: HP:0002862 ! Bladder carcinoma

[Term]
id: HP:0006742
name: Congenital neuroblastoma
xref: UMLS:C4024986
is_a: HP:0003006 ! Neuroblastoma

[Term]
id: HP:0006743
name: Embryonal rhabdomyosarcoma
xref: MSH:D018233
xref: NCIT:C8971
xref: SNOMEDCT_US:14269005
xref: SNOMEDCT_US:404051002
xref: UMLS:C0206656
is_a: HP:0002859 ! Rhabdomyosarcoma
is_a: HP:0002898 ! Embryonal neoplasm

[Term]
id: HP:0006744
name: Adrenocortical carcinoma
alt_id: HP:0002889
alt_id: HP:0006759
def: "A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone." [HPO:probinson]
synonym: "Adrenal carcinoma" EXACT []
synonym: "Adrenal gland carinoma" EXACT []
xref: MSH:D018268
xref: NCIT:C2916
xref: SNOMEDCT_US:2227007
xref: SNOMEDCT_US:255035007
xref: UMLS:C0206686
is_a: HP:0100641 ! Neoplasm of the adrenal cortex

[Term]
id: HP:0006747
name: Ganglioneuroblastoma
xref: MSH:D018305
xref: SNOMEDCT_US:116381000119105
xref: SNOMEDCT_US:69515008
xref: UMLS:C0206718
is_a: HP:0003006 ! Neuroblastoma

[Term]
id: HP:0006748
name: Adrenal pheochromocytoma
alt_id: HP:0006752
def: "Pheochromocytoma originating from the adrenal medulla." [HPO:curators]
synonym: "Pheochromocytoma, adrenal" EXACT []
synonym: "Pheochromocytomas, adrenal" EXACT []
xref: MSH:D010673
xref: NCIT:C3326
xref: SNOMEDCT_US:302835009
xref: SNOMEDCT_US:399343007
xref: SNOMEDCT_US:85583005
xref: UMLS:C0031511
is_a: HP:0002666 ! Pheochromocytoma
is_a: HP:0100642 ! Neoplasm of the adrenal medulla

[Term]
id: HP:0006749
name: Malignant gastrointestinal tract tumors
synonym: "Malignant GI tract tumors" EXACT HP:0045077 [ORCID:0000-0001-5208-3432]
xref: MSH:D005770
xref: SNOMEDCT_US:428905002
xref: UMLS:C0685938
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0006751
name: Paraspinal neurofibromas
xref: UMLS:C4024985
is_a: HP:0001067 ! Neurofibromas

[Term]
id: HP:0006753
name: Neoplasm of the stomach
def: "A tumor (abnormal growth of tissue) of the stomach." [HPO:probinson]
synonym: "Increased gastric cancer" RELATED []
synonym: "Neoplasia of the stomach" RELATED []
synonym: "Stomach tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D013274
xref: NCIT:C3262
xref: SNOMEDCT_US:126824007
xref: UMLS:C0038356
xref: UMLS:C4020813
is_a: HP:0002577 ! Abnormality of the stomach
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0006755
name: Cutaneous leiomyosarcoma
def: "The presence of leiomyosarcoma of the skin." [HPO:probinson]
xref: NCIT:C3158
xref: SNOMEDCT_US:254771006
xref: UMLS:C0346067
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0100243 ! Leiomyosarcoma

[Term]
id: HP:0006756
name: Diffuse leiomyomatosis
xref: UMLS:C4024984
is_a: HP:0031459 ! Soft tissue neoplasm

[Term]
id: HP:0006758
name: Malignant genitourinary tract tumor
def: "The presence of a malignant neoplasm of the genital system." [HPO:probinson]
synonym: "Malignant GU tract tumor" EXACT HP:0045077 []
xref: UMLS:C1834728
is_a: HP:0007379 ! Neoplasm of the genitourinary tract

[Term]
id: HP:0006762
name: Renal pelvic carcinoma
def: "The presence of a carcinoma in the renal pelvis." [HPO:probinson]
xref: NCIT:C2916
xref: UMLS:C4024983
is_a: HP:0009726 ! Renal neoplasm

[Term]
id: HP:0006763
name: Anal canal squamous carcinoma
xref: UMLS:C4024982
is_a: HP:0030437 ! Anal canal neoplasm

[Term]
id: HP:0006765
name: Chondrosarcoma
def: "A slowly growing malignant neoplasm derived from cartilage cells." [HPO:probinson]
xref: MSH:D002813
xref: NCIT:C2946
xref: SNOMEDCT_US:14990007
xref: SNOMEDCT_US:443520009
xref: UMLS:C0008479
is_a: HP:0010622 ! Neoplasm of the skeletal system
is_a: HP:0100242 ! Sarcoma

[Term]
id: HP:0006766
name: Papillary renal cell carcinoma
alt_id: HP:0006776
def: "The presence of renal cell carcinoma in the renal papilla." [HPO:probinson]
xref: MSH:D002292
xref: NCIT:C2916
xref: UMLS:C1306837
is_a: HP:0005584 ! Renal cell carcinoma

[Term]
id: HP:0006767
name: Pituitary prolactin cell adenoma
def: "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women." [DDD:spark]
synonym: "Pituitary prolactinoma" EXACT []
synonym: "Prolactin-secreting pituitary adenoma" EXACT []
xref: MSH:D015175
xref: SNOMEDCT_US:134209002
xref: SNOMEDCT_US:34337008
xref: UMLS:C0033375
is_a: HP:0002893 ! Pituitary adenoma

[Term]
id: HP:0006768
name: Localized neuroblastoma
xref: UMLS:C4024981
is_a: HP:0003006 ! Neuroblastoma

[Term]
id: HP:0006769
name: Myxoid subcutaneous tumors
xref: UMLS:C1834421
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0006770
name: Clear cell renal cell carcinoma
def: "A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron." [DDD:rscott]
synonym: "Nonpapillary renal cell carcinoma" EXACT []
xref: MSH:D002292
xref: SNOMEDCT_US:188251003
xref: SNOMEDCT_US:254915003
xref: SNOMEDCT_US:41607009
xref: UMLS:C0279702
is_a: HP:0005584 ! Renal cell carcinoma

[Term]
id: HP:0006771
name: Duodenal adenocarcinoma
def: "A malignant epithelial tumor with a glandular organization that originates in the duodenum." [HPO:probinson]
synonym: "Duodenal cancer" RELATED [ORCID:0000-0001-6908-9849]
xref: MSH:D004379
xref: NCIT:C2852
xref: SNOMEDCT_US:254570009
xref: SNOMEDCT_US:408644002
xref: UMLS:C0278804
xref: UMLS:C0541912
is_a: HP:0040274 ! Adenocarcinoma of the small intestine

[Term]
id: HP:0006772
name: Renal angiomyolipoma
alt_id: HP:0100873
def: "A benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [HPO:probinson]
comment: Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
synonym: "Angiomyolipoma" EXACT []
synonym: "Kidney angiomyolipoma" EXACT [ORCID:0000-0001-6908-9849]
xref: NCIT:C3734
xref: SNOMEDCT_US:254921004
xref: UMLS:C0241961
is_a: HP:0008696 ! Renal hamartoma

[Term]
id: HP:0006773
name: Cutaneous angiolipomas
xref: NCIT:C3733
xref: UMLS:C4024980
is_a: HP:0001012 ! Multiple lipomas
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0006774
name: Ovarian papillary adenocarcinoma
def: "The presence of a papillary adenocarcinoma of the ovary." [HPO:probinson]
xref: NCIT:C2853
xref: UMLS:C4024979
is_a: HP:0100615 ! Ovarian neoplasm

[Term]
id: HP:0006775
name: Multiple myeloma
def: "A malignant plasma cell tumor growing within soft tissue or within the skeleton." [HPO:sdoelken]
synonym: "Kahler's disease" RELATED [ORCID:0000-0001-6908-9849]
synonym: "Plasmocytoma" RELATED []
xref: MSH:D009101
xref: MSH:D010954
xref: SNOMEDCT_US:10639003
xref: SNOMEDCT_US:109989006
xref: SNOMEDCT_US:415112005
xref: SNOMEDCT_US:55921005
xref: UMLS:C0026764
xref: UMLS:C0032131
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0006778
name: Benign genitourinary tract neoplasm
def: "A non-malignant neoplasm of the genitourinary system." [HPO:probinson]
synonym: "Benign genitourinary tract tumor" EXACT []
synonym: "Benign GU tract neoplasm" EXACT HP:0045077 []
xref: UMLS:C3804991
is_a: HP:0007379 ! Neoplasm of the genitourinary tract

[Term]
id: HP:0006779
name: Alveolar rhabdomyosarcoma
xref: MSH:D018232
xref: NCIT:C3749
xref: SNOMEDCT_US:404053004
xref: SNOMEDCT_US:63449009
xref: UMLS:C0206655
is_a: HP:0002859 ! Rhabdomyosarcoma

[Term]
id: HP:0006780
name: Parathyroid carcinoma
def: "A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism." [HPO:probinson]
synonym: "Parathyroid Cancer" EXACT []
xref: MSH:D010282
xref: NCIT:C2916
xref: SNOMEDCT_US:255037004
xref: SNOMEDCT_US:363481002
xref: UMLS:C0687150
is_a: HP:0100733 ! Neoplasm of the parathyroid gland

[Term]
id: HP:0006781
name: Hurthle cell thyroid adenoma
def: "A kind of thyroid adenoma characterized by the presence of oxyphil cells." [HPO:probinson]
comment: Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells.
xref: UMLS:C1336750
is_a: HP:0000854 ! Thyroid adenoma

[Term]
id: HP:0006782
name: Malignant eosinophil proliferation
xref: MSH:C565054
xref: UMLS:C1851585
is_a: HP:0004377 ! Hematological neoplasm

[Term]
id: HP:0006783
name: Posterior pharyngeal cleft
xref: UMLS:C1848389
is_a: HP:0000600 ! Abnormality of the pharynx

[Term]
id: HP:0006784
name: Paranasal sinus hypoplasia
def: "Underdevelopment of the paranasal sinuses." [HPO:probinson]
synonym: "Atelectasis of paranasal sinus" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Decreased growth of paranasal sinus" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased pneumatization of paranasal sinus" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic paranasal sinus" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small paranasal sinus" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C2749161
xref: UMLS:C4280256
xref: UMLS:C4280441
xref: UMLS:C4280442
is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses

[Term]
id: HP:0006785
name: Limb-girdle muscular dystrophy
alt_id: HP:0009066
def: "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators]
synonym: "limb girdle muscular dystrophy" EXACT []
xref: MSH:D049288
xref: SNOMEDCT_US:93153005
xref: UMLS:C0686353
is_a: HP:0003560 ! Muscular dystrophy
is_a: HP:0003797 ! Limb-girdle muscle atrophy

[Term]
id: HP:0006789
name: Mitochondrial encephalopathy
xref: MSH:C538525
xref: UMLS:C1852373
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0006790
name: Cerebral cortex with spongiform changes
xref: UMLS:C1857934
is_a: HP:0002538 ! Abnormality of the cerebral cortex

[Term]
id: HP:0006794
name: Loss of ability to walk in first decade
synonym: "Loss of ability to walk in first decade" EXACT layperson []
xref: UMLS:C1846133
is_a: HP:0002505 ! Progressive inability to walk

[Term]
id: HP:0006799
name: Basal ganglia cysts
alt_id: HP:0007244
synonym: "Cystic lesions in the basal ganglia" EXACT []
xref: UMLS:C1837251
is_a: HP:0002134 ! Abnormality of the basal ganglia
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0006801
name: Hyperactive deep tendon reflexes
alt_id: HP:0007259
synonym: "Brisk deep tendon reflexes" EXACT []
xref: UMLS:C1846176
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0006802
name: Abnormal anterior horn cell morphology
def: "Any anomaly of the anterior horn cell." [HPO:probinson]
comment: Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles.
synonym: "Abnormality of the anterior horn cell" BROAD []
synonym: "Abnormality of the anterior horn cells" EXACT []
synonym: "Anomaly of the anterior horn cells" EXACT []
synonym: "Anterior horn cell disease" EXACT []
xref: MSH:D016472
xref: SNOMEDCT_US:85672005
xref: UMLS:C0154681
xref: UMLS:C4020812
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
is_a: HP:0002450 ! Abnormal motor neuron morphology

[Term]
id: HP:0006803
name: Vivid hallucinations
xref: UMLS:C4024978
is_a: HP:0000738 ! Hallucinations

[Term]
id: HP:0006808
name: Cerebral hypomyelination
def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system." [HPO:probinson]
synonym: "Hypomyelination of the brain" EXACT []
xref: UMLS:C2677328
is_a: HP:0003429 ! CNS hypomyelination

[Term]
id: HP:0006812
name: White mater abnormalities in the posterior periventricular region
xref: UMLS:C1836525
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0006813
name: Hemiclonic seizures
synonym: "Unilateral clonic seizures" EXACT []
xref: UMLS:C1846620
is_a: HP:0002266 ! Focal clonic seizures

[Term]
id: HP:0006817
name: Aplasia/Hypoplasia of the cerebellar vermis
alt_id: HP:0005690
alt_id: HP:0007080
def: "Absence or underdevelopment of the vermis of cerebellum." [HPO:curators]
synonym: "Cerebellar vermis aplasia or hypoplasia" RELATED [HPO:skoehler]
synonym: "Cerebellar vermis aplasia/hypoplasia" EXACT []
synonym: "Hypo/aplastic vermis" EXACT []
xref: UMLS:C1855676
xref: UMLS:C3280770
is_a: HP:0002334 ! Abnormality of the cerebellar vermis

[Term]
id: HP:0006818
name: 4-layered lissencephaly
def: "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm." [COST:neuromig, HPO:probinson, PMID:28440899]
synonym: "Classic lissencephaly" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Four-layered lissencephaly" EXACT []
synonym: "Lissencephaly, type I" EXACT []
synonym: "Type 1 lissencephaly" EXACT []
synonym: "Type I lissencephaly" EXACT []
xref: MSH:D054221
xref: SNOMEDCT_US:253147000
xref: UMLS:C0431375
is_a: HP:0001339 ! Lissencephaly

[Term]
id: HP:0006821
name: Frontal polymicrogyria
def: "A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum." [COST:neuromig, PMID:20301504]
synonym: "Polymicrogyria, anterior to posterior gradient" EXACT []
xref: UMLS:C1847356
is_a: HP:0002126 ! Polymicrogyria

[Term]
id: HP:0006824
name: Cranial nerve paralysis
alt_id: HP:0001353
alt_id: HP:0002377
synonym: "Cranial nerve palsies" EXACT []
synonym: "Cranial nerve palsy" EXACT []
synonym: "Cranial nerve paresis" EXACT []
xref: MSH:D003389
xref: SNOMEDCT_US:73013002
xref: UMLS:C0151311
xref: UMLS:C4025709
is_a: HP:0031910 ! Abnormal cranial nerve physiology

[Term]
id: HP:0006825
name: Pallor of dorsal columns of the spinal cord
xref: UMLS:C1865416
is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord

[Term]
id: HP:0006827
name: Atrophy of the spinal cord
synonym: "Degeneration of the spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1389102
is_a: HP:0007344 ! Atrophy/Degeneration involving the spinal cord

[Term]
id: HP:0006829
name: Severe muscular hypotonia
alt_id: HP:0002347
def: "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators]
synonym: "Hypotonia, severe" EXACT []
synonym: "Severely decreased muscle tone" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1839630
is_a: HP:0001252 ! Muscular hypotonia

[Term]
id: HP:0006830
name: obsolete Severe neonatal hypotonia in males
is_obsolete: true
consider: HP:0001319

[Term]
id: HP:0006834
name: Developmental stagnation at onset of seizures
def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy." [HPO:probinson]
xref: UMLS:C1836829
is_a: HP:0007281 ! Developmental stagnation

[Term]
id: HP:0006837
name: Congenital Horner syndrome
def: "A type of Horner syndrome with congenital onset." [HPO:probinson]
xref: MSH:C564178
xref: UMLS:C1840475
is_a: HP:0002277 ! Horner syndrome

[Term]
id: HP:0006844
name: Absent patellar reflexes
def: "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella." [HPO:probinson]
synonym: "Absent knee jerk reflex" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:274817009
xref: UMLS:C0558844
is_a: HP:0002522 ! Areflexia of lower limbs

[Term]
id: HP:0006846
name: Acute encephalopathy
xref: SNOMEDCT_US:2776000
xref: UMLS:C1306587
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0006849
name: Hypodysplasia of the corpus callosum
xref: UMLS:C1850348
is_a: HP:0002079 ! Hypoplasia of the corpus callosum

[Term]
id: HP:0006850
name: Hypoplasia of the ventral pons
def: "Underdevelopment of the ventral portion of the pons." [HPO:probinson]
synonym: "Underdeveloped ventral pons" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1843507
is_a: HP:0007361 ! Abnormality of the pons

[Term]
id: HP:0006851
name: Symmetric spinal nerve root neurofibromas
def: "Multiple neurofibromas of the spinal nerve roots with a symmetric distribution." [HPO:probinson]
synonym: "Spinal nerve root neurofibromas, symmetric, multiple" EXACT []
xref: UMLS:C1834236
is_a: HP:0009735 ! Spinal neurofibromas

[Term]
id: HP:0006852
name: Episodic generalized hypotonia
def: "The occurrence of repeated episodes of generalized muscular hypotonia." [HPO:curators]
xref: UMLS:C4024976
is_a: HP:0001290 ! Generalized hypotonia

[Term]
id: HP:0006855
name: Cerebellar vermis atrophy
alt_id: HP:0007121
alt_id: HP:0007312
def: "Wasting (atrophy) of the vermis of cerebellum." [HPO:probinson]
comment: This sign can be visualized with brain MRI.
synonym: "Atrophy of cerebellar vermis" EXACT []
synonym: "Atrophy of the cerebellar vermis" EXACT []
xref: UMLS:C0742028
is_a: HP:0002334 ! Abnormality of the cerebellar vermis

[Term]
id: HP:0006858
name: Impaired distal proprioception
alt_id: HP:0007056
alt_id: HP:0007148
def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints." [HPO:probinson]
synonym: "Distal sensory loss of proprioception" EXACT []
xref: UMLS:C4021585
is_a: HP:0002936 ! Distal sensory impairment
is_a: HP:0010831 ! Impaired proprioception

[Term]
id: HP:0006859
name: Posterior leukoencephalopathy
xref: UMLS:C4024975
is_a: HP:0002352 ! Leukoencephalopathy

[Term]
id: HP:0006863
name: Severe expressive language delay
def: "A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth]
xref: SNOMEDCT_US:62221000119105
xref: UMLS:C1851085
is_a: HP:0002474 ! Expressive language delay

[Term]
id: HP:0006865
name: Sensorimotor polyneuropathy affecting arms more than legs
xref: UMLS:C4024974
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0006866
name: Midline central nervous system lipomas
synonym: "Midline CNS lipomas" EXACT HP:0045077 []
xref: UMLS:C4024973
is_a: HP:0100251 ! Multiple central nervous system lipomas

[Term]
id: HP:0006870
name: Lobar holoprosencephaly
def: "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally." [gc:hpe]
xref: MSH:D016142
xref: SNOMEDCT_US:253136007
xref: UMLS:C0431362
is_a: HP:0001360 ! Holoprosencephaly

[Term]
id: HP:0006872
name: Cerebral hypoplasia
alt_id: HP:0001322
def: "Underdevelopment of the cerebrum." [HPO:probinson]
synonym: "Small cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1855330
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum

[Term]
id: HP:0006873
name: Symmetrical progressive peripheral demyelination
def: "A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson]
xref: UMLS:C4024972
is_a: HP:0007262 ! Symmetric peripheral demyelination

[Term]
id: HP:0006877
name: obsolete Mental retardation, in some
is_obsolete: true
replaced_by: HP:0001249

[Term]
id: HP:0006879
name: Pontocerebellar atrophy
def: "Atrophy affecting the pons and the cerebellum." [HPO:probinson]
xref: UMLS:C1853766
is_a: HP:0001272 ! Cerebellar atrophy

[Term]
id: HP:0006880
name: Cerebellar hemangioblastoma
alt_id: HP:0006761
def: "A 'hemangioblastoma of the cerebellum." [HPO:probinson]
synonym: "Hemangioblastoma, sporadic cerebellar" EXACT []
xref: NCIT:C3801
xref: UMLS:C1332900
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0010797 ! Hemangioblastoma

[Term]
id: HP:0006881
name: Diffuse peripheral demyelination
def: "A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson]
xref: UMLS:C4024971
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0006882
name: Severe hydrocephalus
xref: UMLS:C3278123
is_a: HP:0000238 ! Hydrocephalus

[Term]
id: HP:0006886
name: Impaired distal vibration sensation
def: "A decrease in the ability to perceive vibration in the distal portions of the limbs." [HPO:probinson]
synonym: "Decreased distal vibration sense" EXACT []
xref: UMLS:C1853767
is_a: HP:0002495 ! Impaired vibratory sensation

[Term]
id: HP:0006887
name: Intellectual disability, progressive
alt_id: HP:0001261
alt_id: HP:0006924
alt_id: HP:0007025
alt_id: HP:0007044
alt_id: HP:0007243
def: "The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time." [HPO:probinson]
synonym: "Intellectual disability, progressive" EXACT layperson []
synonym: "Mental retardation, progressive" EXACT layperson []
synonym: "Progressive mental retardation" EXACT layperson []
xref: UMLS:C1846149
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0006888
name: Meningoencephalocele
xref: SNOMEDCT_US:52330001
xref: UMLS:C0266456
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0006889
name: Intellectual disability, borderline
def: "Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85." [HPO:probinson, PMID:20537050]
comment: We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification.
synonym: "Intellectual disability, borderline" EXACT layperson []
synonym: "Mental retardation, borderline" EXACT layperson []
xref: SNOMEDCT_US:77287004
xref: UMLS:C0006009
is_a: HP:0001249 ! Intellectual disability

[Term]
id: HP:0006891
name: Thick cerebral cortex
xref: UMLS:C4024970
is_a: HP:0002538 ! Abnormality of the cerebral cortex

[Term]
id: HP:0006892
name: Frontotemporal cerebral atrophy
def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum." [HPO:probinson]
synonym: "Cerebral atrophy, frontotemporal" EXACT []
xref: UMLS:C4021584
is_a: HP:0002059 ! Cerebral atrophy

[Term]
id: HP:0006893
name: Severely dysplastic cerebellum
xref: UMLS:C4024969
is_a: HP:0007033 ! Cerebellar dysplasia

[Term]
id: HP:0006894
name: Hypoplastic olfactory lobes
xref: UMLS:C1859231
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0025057 ! Abnormality of olfactory lobe morphology

[Term]
id: HP:0006895
name: Lower limb hypertonia
xref: UMLS:C1845245
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
is_a: HP:0002509 ! Limb hypertonia

[Term]
id: HP:0006896
name: Hypnopompic hallucinations
xref: MSH:D006212
xref: SNOMEDCT_US:69690008
xref: UMLS:C0424082
is_a: HP:0000738 ! Hallucinations

[Term]
id: HP:0006897
name: Cranial nerve VI palsy
synonym: "Abducens nerve palsy" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abducens nerve paralysis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abducens nerve paresis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Lateral rectus muscle denervation paresis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: MSH:C564661
xref: MSH:D020434
xref: SNOMEDCT_US:398760006
xref: SNOMEDCT_US:398925009
xref: SNOMEDCT_US:398963001
xref: UMLS:C0271355
is_a: HP:0006824 ! Cranial nerve paralysis

[Term]
id: HP:0006899
name: Fusion of the cerebellar hemispheres
xref: UMLS:C1866131
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0006901
name: Impaired thermal sensitivity
xref: UMLS:C4024968
is_a: HP:0004370 ! Abnormality of temperature regulation

[Term]
id: HP:0006903
name: Congenital peripheral neuropathy
xref: UMLS:C4024967
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0006904
name: Late-onset spinocerebellar degeneration
xref: UMLS:C1856604
is_a: HP:0002503 ! Spinocerebellar tract degeneration

[Term]
id: HP:0006906
name: Congenital intracerebral calcification
def: "The presence of calcium deposition within brain structures that is present already at the time of birth." [HPO:probinson]
xref: UMLS:C4024966
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0006913
name: Frontal cortical atrophy
def: "Atrophy of the frontal cortex." [HPO:probinson]
synonym: "Frontal cortex degeneration" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024965
is_a: HP:0002120 ! Cerebral cortical atrophy

[Term]
id: HP:0006915
name: Inability to walk by childhood/adolescence
synonym: "Inability to walk by childhood/adolescence" EXACT layperson []
xref: UMLS:C1859200
is_a: HP:0002505 ! Progressive inability to walk

[Term]
id: HP:0006916
name: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
def: "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons." [HPO:probinson]
synonym: "Intraaxonal accumulation of curvilinear profiles" RELATED []
xref: UMLS:C1832339
xref: UMLS:C4024964
is_a: HP:0003205 ! Curvilinear intracellular accumulation of autofluorescent lipopigment storage material

[Term]
id: HP:0006918
name: Diffuse cerebral sclerosis
xref: MSH:D002549
xref: SNOMEDCT_US:49692006
xref: UMLS:C0007795
is_a: HP:0002060 ! Abnormality of the cerebrum

[Term]
id: HP:0006919
name: Abnormal aggressive, impulsive or violent behavior
synonym: "Aggressive/violent behavior" BROAD layperson []
xref: UMLS:C4024963
is_a: HP:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0006921
name: Axial muscle stiffness
def: "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature." [HPO:probinson]
xref: UMLS:C4024962
is_a: HP:0003552 ! Muscle stiffness
is_a: HP:0040286 ! Abnormality of axial muscles

[Term]
id: HP:0006926
name: Metachromatic leukodystrophy variant
alt_id: HP:0007079
xref: UMLS:C4024961
is_a: HP:0002415 ! Leukodystrophy

[Term]
id: HP:0006927
name: Unilateral polymicrogyria
def: "Excessive number of small gyri (convolutions) on the surface of one side of the brain." [HPO:probinson]
xref: SNOMEDCT_US:715905006
xref: UMLS:C4024960
is_a: HP:0002126 ! Polymicrogyria

[Term]
id: HP:0006929
name: Hypoglycemic encephalopathy
def: "Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage." [HPO:probinson]
xref: SNOMEDCT_US:64624009
xref: UMLS:C0149877
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0006930
name: Frontoparietal cortical dysplasia
def: "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe." [HPO:probinson]
xref: UMLS:C4024959
is_a: HP:0002539 ! Cortical dysplasia

[Term]
id: HP:0006931
name: Lipoma of corpus callosum
xref: UMLS:C1333160
is_a: HP:0001273 ! Abnormal corpus callosum morphology
is_a: HP:0006866 ! Midline central nervous system lipomas

[Term]
id: HP:0006932
name: Transient psychotic episodes
xref: UMLS:C4024958
is_a: HP:0000725 ! Psychotic episodes

[Term]
id: HP:0006934
name: Congenital nystagmus
def: "Nystagmus dating from or present at birth." [HPO:curators]
synonym: "Nystagmus, congenital" RELATED [HPO:skoehler]
xref: MSH:D020417
xref: SNOMEDCT_US:64635004
xref: UMLS:C0700501
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0006937
name: Impaired distal tactile sensation
alt_id: HP:0006981
def: "A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [HPO:probinson]
synonym: "Decreased distal touch sense" EXACT []
synonym: "Decreased touch sensation in extremities" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: UMLS:C4021583
is_a: HP:0002936 ! Distal sensory impairment
is_a: HP:0010830 ! Impaired tactile sensation

[Term]
id: HP:0006938
name: Impaired vibration sensation at ankles
alt_id: HP:0007144
def: "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles." [HPO:probinson]
synonym: "Decreased vibration sense at ankles" EXACT layperson []
synonym: "Decreased vibration sense in feet" EXACT layperson []
synonym: "Impaired vibration sensation at ankles" EXACT layperson []
xref: UMLS:C1854372
is_a: HP:0002166 ! Impaired vibration sensation in the lower limbs
is_a: HP:0006886 ! Impaired distal vibration sensation

[Term]
id: HP:0006943
name: Diffuse spongiform leukoencephalopathy
xref: UMLS:C1858857
is_a: HP:0002352 ! Leukoencephalopathy

[Term]
id: HP:0006944
name: Abolished vibration sense
def: "A complete loss of the ability to perceive vibration." [HPO:curators]
xref: UMLS:C1837520
is_a: HP:0002495 ! Impaired vibratory sensation

[Term]
id: HP:0006946
name: Recurrent meningitis
def: "An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis." [HPO:probinson]
xref: UMLS:C0746495
is_a: HP:0011450 ! Unusual CNS infection

[Term]
id: HP:0006949
name: Episodic peripheral neuropathy
xref: UMLS:C1848695
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0006951
name: Retrocerebellar cyst
xref: UMLS:C1845370
is_a: HP:0002350 ! Cerebellar cyst

[Term]
id: HP:0006955
name: Olivopontocerebellar hypoplasia
alt_id: HP:0007168
def: "Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus." [HPO:probinson]
xref: UMLS:C1859341
is_a: HP:0001321 ! Cerebellar hypoplasia
is_a: HP:0012110 ! Hypoplasia of the pons

[Term]
id: HP:0006956
name: Dilation of lateral ventricles
alt_id: HP:0006796
alt_id: HP:0006945
alt_id: HP:0007173
synonym: "Dilatation of lateral cerebral ventricles" EXACT []
synonym: "Enlarged lateral ventricles" EXACT []
synonym: "Lateral ventricle dilatation" EXACT []
xref: UMLS:C1856409
is_a: HP:0002119 ! Ventriculomegaly
is_a: HP:0030047 ! Abnormality of lateral ventricle

[Term]
id: HP:0006957
name: Loss of ability to walk
synonym: "Loss of ability to walk" EXACT layperson []
xref: UMLS:C1849097
is_a: HP:0002505 ! Progressive inability to walk

[Term]
id: HP:0006958
name: Abnormal auditory evoked potentials
alt_id: HP:0003151
alt_id: HP:0004462
alt_id: HP:0006923
def: "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex." [HPO:probinson]
comment: Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea.
synonym: "Abnormal brainstem auditory-evoked potentials" EXACT []
xref: SNOMEDCT_US:102971006
xref: UMLS:C0522216
is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology
is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology

[Term]
id: HP:0006959
name: Proximal spinal muscular atrophy
def: "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators]
xref: UMLS:C4024957
is_a: HP:0007269 ! Spinal muscular atrophy

[Term]
id: HP:0006960
name: Choroid plexus calcification
def: "The presence of calcium deposition in the choroid plexus." [HPO:probinson]
synonym: "Calcified choroid plexus" EXACT []
xref: UMLS:C1863184
is_a: HP:0002514 ! Cerebral calcification
is_a: HP:0007376 ! Abnormality of the choroid plexus

[Term]
id: HP:0006961
name: Jerky head movements
synonym: "Head jerking" EXACT layperson []
synonym: "Jerking head movements" EXACT layperson []
xref: UMLS:C1855568
is_a: HP:0002457 ! Abnormal head movements

[Term]
id: HP:0006962
name: Gait instability, worse in the dark
synonym: "Unstable walking, worse in the dark" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1837016
is_a: HP:0002317 ! Unsteady gait

[Term]
id: HP:0006964
name: Cerebral cortical neurodegeneration
xref: UMLS:C1859863
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum

[Term]
id: HP:0006965
name: Acute necrotizing encephalopathy
xref: UMLS:C1855020
is_a: HP:0006846 ! Acute encephalopathy

[Term]
id: HP:0006970
name: Periventricular leukomalacia
xref: MSH:D007969
xref: SNOMEDCT_US:230769007
xref: UMLS:C0023529
is_a: HP:0002518 ! Abnormality of the periventricular white matter

[Term]
id: HP:0006976
name: Necrotizing encephalopathy
def: "A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue." [KI:phemming, pmid:23705127]
comment: The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted.
xref: UMLS:C1396481
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0006977
name: Grammar-specific speech disorder
synonym: "Grammar-specific speech disorder" EXACT layperson []
xref: UMLS:C4024956
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0006978
name: Dysmyelinating leukodystrophy
xref: UMLS:C3278204
is_a: HP:0002415 ! Leukodystrophy

[Term]
id: HP:0006979
name: Sleep-wake cycle disturbance
def: "Any abnormal alteration of an individuals cricadian rhythm that affects the timing of sleeping and being awake." []
synonym: "Sleep-wake cycle disturbance" EXACT layperson []
xref: UMLS:C1833362
is_a: HP:0002360 ! Sleep disturbance

[Term]
id: HP:0006980
name: Progressive leukoencephalopathy
def: "Leukoencephalopathy that gets more severe with time." [HPO:probinson]
synonym: "Leukoencephalopathy, progressive" EXACT []
xref: UMLS:C1855010
is_a: HP:0002352 ! Leukoencephalopathy

[Term]
id: HP:0006983
name: Slowly progressive spastic quadriparesis
xref: UMLS:C4024955
is_a: HP:0002478 ! Progressive spastic quadriplegia

[Term]
id: HP:0006984
name: Distal sensory loss of all modalities
xref: UMLS:C1836527
is_a: HP:0003409 ! Distal sensory impairment of all modalities

[Term]
id: HP:0006986
name: Upper limb spasticity
synonym: "Uncontrollable movement in upper arms" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:394680009
xref: UMLS:C1273957
is_a: HP:0001257 ! Spasticity

[Term]
id: HP:0006988
name: Alobar holoprosencephaly
def: "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged." [gc:hpe]
xref: MSH:D016142
xref: SNOMEDCT_US:253137003
xref: UMLS:C0431363
is_a: HP:0001360 ! Holoprosencephaly

[Term]
id: HP:0006989
name: Dysplastic corpus callosum
alt_id: HP:0006996
def: "Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium." [HPO:probinson, pmid:21263138]
synonym: "Dysgenesis of corpus callosum" EXACT []
synonym: "Dysplasia of corpus callosum" EXACT []
xref: UMLS:C0431369
is_a: HP:0001273 ! Abnormal corpus callosum morphology

[Term]
id: HP:0006990
name: Myelin-dependent gliosis
def: "A type of gliosis that occurs in the vicinity of injured neurons." [HPO:probinson]
xref: UMLS:C4024954
is_a: HP:0002171 ! Gliosis

[Term]
id: HP:0006992
name: Anterior basal encephalocele
xref: UMLS:C1850961
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0006994
name: Diffuse leukoencephalopathy
xref: UMLS:C1868514
is_a: HP:0002352 ! Leukoencephalopathy

[Term]
id: HP:0006999
name: Basal ganglia gliosis
def: "Focal proliferation of glial cells in the basal ganglia." [HPO:probinson]
comment: Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue.
synonym: "Gliosis in the basal ganglia" EXACT []
xref: UMLS:C1864114
xref: UMLS:C2750915
is_a: HP:0002134 ! Abnormality of the basal ganglia
is_a: HP:0002171 ! Gliosis

[Term]
id: HP:0007000
name: Morning myoclonic jerks
xref: UMLS:C1847164
is_a: HP:0001336 ! Myoclonus

[Term]
id: HP:0007001
name: Loss of Purkinje cells in the cerebellar vermis
xref: UMLS:C1849146
is_a: HP:0002334 ! Abnormality of the cerebellar vermis

[Term]
id: HP:0007002
name: Motor axonal neuropathy
alt_id: HP:0007349
def: "Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg." [HPO:probinson]
comment: Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available.
synonym: "Distal motor neuropathy" RELATED []
synonym: "Length dependent motor neuropathy" RELATED []
xref: UMLS:C1854570
xref: UMLS:C2749625
xref: UMLS:C4020811
is_a: HP:0003477 ! Peripheral axonal neuropathy

[Term]
id: HP:0007006
name: Dorsal column degeneration
xref: UMLS:C4024953
is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord

[Term]
id: HP:0007007
name: Cavitation of the basal ganglia
alt_id: HP:0007246
def: "The formation of small cavities in the tissue of the basal ganglia." [HPO:probinson, pmid:8516046]
comment: This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images.
xref: UMLS:C4024952
is_a: HP:0002134 ! Abnormality of the basal ganglia

[Term]
id: HP:0007009
name: Central nervous system degeneration
synonym: "CNS degeneration" EXACT HP:0045077 []
xref: UMLS:C3277687
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system

[Term]
id: HP:0007010
name: Poor fine motor coordination
def: "An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes." []
synonym: "Fine motor disability" EXACT []
synonym: "Fine motor impairment" EXACT []
synonym: "Fine motor skill dysfunction" EXACT []
synonym: "Impaired fine motor skills" EXACT []
xref: UMLS:C1867864
is_a: HP:0002275 ! Poor motor coordination

[Term]
id: HP:0007011
name: Fourth cranial nerve palsy
def: "Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly." [ORCIRD:0000-0001-5208-3432]
comment: The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit.
synonym: "Trochlear nerve palsy" EXACT []
xref: MSH:D020432
xref: SNOMEDCT_US:20610004
xref: UMLS:C0271375
is_a: HP:0006824 ! Cranial nerve paralysis

[Term]
id: HP:0007015
name: Poor gross motor coordination
def: "An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts." []
synonym: "Gross motor impairment" EXACT []
xref: UMLS:C1867863
is_a: HP:0002275 ! Poor motor coordination

[Term]
id: HP:0007016
name: Corticospinal tract hypoplasia
xref: UMLS:C1844007
is_a: HP:0007365 ! Aplasia/Hypoplasia involving the corticospinal tracts

[Term]
id: HP:0007017
name: Progressive forgetfulness
synonym: "Forgetfullness" BROAD layperson []
xref: UMLS:C3277688
is_a: HP:0002354 ! Memory impairment

[Term]
id: HP:0007018
name: Attention deficit hyperactivity disorder
alt_id: HP:0001576
alt_id: HP:0001577
alt_id: HP:0006973
def: "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]
synonym: "Attention deficit" EXACT layperson []
synonym: "Attention deficit disorder" EXACT layperson []
synonym: "Attention deficit-hyperactivity disorder" EXACT layperson []
synonym: "Attention deficits" EXACT layperson []
synonym: "Childhood attention deficit/hyperactivity disorder" EXACT layperson []
xref: MSH:D001289
xref: SNOMEDCT_US:406506008
xref: SNOMEDCT_US:7461003
xref: UMLS:C1263846
is_a: HP:0000736 ! Short attention span
is_a: HP:0000752 ! Hyperactivity

[Term]
id: HP:0007020
name: Progressive spastic paraplegia
alt_id: HP:0006875
alt_id: HP:0007255
xref: UMLS:C1855483
is_a: HP:0001258 ! Spastic paraplegia

[Term]
id: HP:0007021
name: Pain insensitivity
alt_id: HP:0003404
def: "Inability to perceive painful stimuli." [HPO:probinson]
comment: The word Anesthesia is occasionally used to refer to lack of pain sensation, although it is more usually used to denote a medical procedure design to relieve pain.
synonym: "Absence of pain sensation" EXACT []
xref: SNOMEDCT_US:38433004
xref: UMLS:C0344307
is_a: HP:0007328 ! Impaired pain sensation

[Term]
id: HP:0007023
name: Antenatal intracerebral hemorrhage
def: "Cerebral hemorrhage that occurs before birth." [HPO:probinson]
xref: UMLS:C1837247
is_a: HP:0001342 ! Cerebral hemorrhage

[Term]
id: HP:0007024
name: Pseudobulbar paralysis
alt_id: HP:0002201
alt_id: HP:0006819
def: "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing." [HPO:sdoelken]
synonym: "Pseudobulbar palsy" EXACT []
synonym: "Pseudobulbar syndrome" EXACT []
xref: MSH:D020828
xref: SNOMEDCT_US:7379000
xref: UMLS:C0033790
is_a: HP:0001260 ! Dysarthria
is_a: HP:0001618 ! Dysphonia
is_a: HP:0002015 ! Dysphagia
is_a: HP:0002200 ! Pseudobulbar signs
is_a: HP:0003470 ! Paralysis

[Term]
id: HP:0007027
name: Poorly formed metencephalon
def: "A morphological abnormality of the metencephalon." [HPO:probinson]
comment: The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain.
xref: UMLS:C4024951
is_a: HP:0011283 ! Abnormality of the metencephalon

[Term]
id: HP:0007029
name: Cerebral berry aneurysm
def: "A small, sac-like aneurysm (outpouching) of a cerebral blood vessel." [HPO:probinson]
comment: Saccular aneurysms are often said to have a berry-shaped appearance, whence the name.
synonym: "Cerebral saccular aneurysm" EXACT []
xref: MSH:D000783
xref: SNOMEDCT_US:54002007
xref: UMLS:C2713497
is_a: HP:0004944 ! Dilatation of the cerebral artery

[Term]
id: HP:0007030
name: Nonprogressive encephalopathy
xref: UMLS:C4024950
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0007033
name: Cerebellar dysplasia
def: "The presence of developmental dysplasia of the cerebellum." [HPO:probinson]
xref: UMLS:C3278322
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0007034
name: Generalized hyperreflexia
xref: UMLS:C4024949
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0007035
name: Anterior encephalocele
xref: UMLS:C4024948
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0007036
name: Hypoplasia of olfactory tract
synonym: "Underdeveloped olfactory tract" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856655
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system

[Term]
id: HP:0007039
name: Symmetric lesions of the basal ganglia
xref: UMLS:C4024947
is_a: HP:0002134 ! Abnormality of the basal ganglia

[Term]
id: HP:0007041
name: Chronic lymphocytic meningitis
def: "Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF)." [PMID:27608867]
xref: SNOMEDCT_US:230154004
xref: UMLS:C0393441
is_a: HP:0001287 ! Meningitis

[Term]
id: HP:0007042
name: Focal white matter lesions
xref: UMLS:C4024946
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0007045
name: Midline brain calcifications
xref: UMLS:C1855487
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0007047
name: Atrophy of the dentate nucleus
def: "Partial or complete wasting (loss) of dentate nucleus." [HPO:probinson]
xref: UMLS:C1857788
is_a: HP:0100321 ! Abnormality of the dentate nucleus

[Term]
id: HP:0007048
name: Large basal ganglia
def: "Increased size of the basal ganglia." [HPO:probinson]
xref: UMLS:C1859470
is_a: HP:0002134 ! Abnormality of the basal ganglia

[Term]
id: HP:0007052
name: Multifocal cerebral white matter abnormalities
xref: UMLS:C1833434
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0007054
name: Hyperreflexia proximally
xref: UMLS:C1836012
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0007057
name: Poor hand-eye coordination
xref: UMLS:C1845864
is_a: HP:0002370 ! Poor coordination

[Term]
id: HP:0007058
name: Generalized cerebral atrophy/hypoplasia
def: "Generalized atrophy or hypoplasia of the cerebrum." [HPO:sdoelken]
synonym: "Generalized cerebral degeneration/underdevelopment" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024945
is_a: HP:0002059 ! Cerebral atrophy

[Term]
id: HP:0007063
name: Aplasia of the inferior half of the cerebellar vermis
synonym: "Absent inferior half of the cerebellar vermis" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1857787
is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis

[Term]
id: HP:0007064
name: Progressive language deterioration
def: "Progressive loss of previously present language abilities." [HPO:probinson]
xref: UMLS:C1843793
is_a: HP:0002344 ! Progressive neurologic deterioration

[Term]
id: HP:0007065
name: Disorganization of the anterior cerebellar vermis
xref: UMLS:C1845369
is_a: HP:0002334 ! Abnormality of the cerebellar vermis

[Term]
id: HP:0007066
name: Proximal limb muscle stiffness
comment: Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb
xref: UMLS:C1861460
is_a: HP:0003552 ! Muscle stiffness
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0007067
name: Distal peripheral sensory neuropathy
def: "Peripheral sensory neuropathy affecting primarily distal sensation." [HPO:probinson]
synonym: "Peripheral sensory neuropathy, distal" EXACT []
xref: UMLS:C4021582
is_a: HP:0000763 ! Sensory neuropathy

[Term]
id: HP:0007068
name: Inferior vermis hypoplasia
alt_id: HP:0005724
def: "Underdevelopment of the inferior portion of the vermis of cerebellum." [HPO:probinson, pmid:16580298]
synonym: "Hypoplasia of inferior vermis" EXACT []
xref: UMLS:C1855350
is_a: HP:0001320 ! Cerebellar vermis hypoplasia

[Term]
id: HP:0007069
name: Profound static encephalopathy
xref: UMLS:C4024944
is_a: HP:0007030 ! Nonprogressive encephalopathy

[Term]
id: HP:0007074
name: Thick corpus callosum
alt_id: HP:0006805
alt_id: HP:0006807
alt_id: HP:0200009
alt_id: HP:0200010
def: "Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain." [KI:phemming, pmid:10029348]
synonym: "Abnormal size of corpus callosum" EXACT []
synonym: "Large corpus callosum" EXACT []
xref: UMLS:C1835194
is_a: HP:0001273 ! Abnormal corpus callosum morphology

[Term]
id: HP:0007076
name: Extrapyramidal muscular rigidity
def: "Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [HPO:probinson]
comment: This is a classic type of extrapyramidal movement disorder.
xref: UMLS:C1852470
is_a: HP:0002063 ! Rigidity
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0007078
name: Decreased amplitude of sensory action potentials
def: "A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies." [HPO:probinson]
xref: UMLS:C4024943
is_a: HP:0030179 ! Abnormal peripheral action potential amplitude

[Term]
id: HP:0007081
name: Late-onset muscular dystrophy
xref: UMLS:C4024942
is_a: HP:0003560 ! Muscular dystrophy

[Term]
id: HP:0007082
name: Dilated third ventricle
def: "An increase in size of the third ventricle." [HPO:probinson]
comment: The thrid ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle.
xref: UMLS:C4024941
is_a: HP:0002119 ! Ventriculomegaly

[Term]
id: HP:0007083
name: Hyperactive patellar reflex
synonym: "Brisk knee jerk" RELATED layperson []
synonym: "Hyperreflexia in knees" EXACT []
synonym: "Overactive knee reflex" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C0240116
is_a: HP:0002395 ! Lower limb hyperreflexia

[Term]
id: HP:0007086
name: Social and occupational deterioration
xref: UMLS:C1866986
is_a: HP:0001268 ! Mental deterioration

[Term]
id: HP:0007087
name: obsolete Involuntary jerking movements
is_obsolete: true
replaced_by: HP:0001336

[Term]
id: HP:0007089
name: Facial-lingual fasciculations
def: "Fasciculations affecting the tongue muscle and the musculature of the face." [HPO:curators]
xref: UMLS:C1862359
is_a: HP:0002380 ! Fasciculations
is_a: HP:0010546 ! Muscle fibrillation

[Term]
id: HP:0007095
name: Frontoparietal polymicrogyria
def: "An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region." [HPO:probinson]
xref: UMLS:C3279674
is_a: HP:0002126 ! Polymicrogyria

[Term]
id: HP:0007096
name: Hypoplasia of the optic tract
synonym: "Underdeveloped optic tract" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856654
is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract

[Term]
id: HP:0007097
name: Cranial nerve motor loss
xref: UMLS:C4024940
is_a: HP:0001291 ! Abnormal cranial nerve morphology

[Term]
id: HP:0007098
name: Paroxysmal choreoathetosis
alt_id: HP:0002351
def: "Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements." [HPO:probinson]
synonym: "Choreoathetosis, episodic" EXACT []
synonym: "Choreoathetosis, intermittent" EXACT []
xref: SNOMEDCT_US:49949003
xref: UMLS:C1851936
is_a: HP:0001266 ! Choreoathetosis

[Term]
id: HP:0007099
name: Arnold-Chiari type I malformation
alt_id: HP:0002440
def: "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators]
synonym: "Arnold Chiari type I malformation" EXACT []
synonym: "Chiari I malformation" EXACT []
xref: MSH:D001139
xref: SNOMEDCT_US:253185002
xref: UMLS:C0750929
is_a: HP:0002308 ! Arnold-Chiari malformation

[Term]
id: HP:0007100
name: Progressive ventriculomegaly
xref: UMLS:C1865119
is_a: HP:0002119 ! Ventriculomegaly

[Term]
id: HP:0007103
name: Hypointensity of cerebral white matter on MRI
alt_id: HP:0006804
def: "A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter." [HPO:probinson]
synonym: "White matter hypointensities on MRI" EXACT []
xref: UMLS:C4020908
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0007104
name: Prolonged somatosensory evoked potentials
xref: UMLS:C4024939
is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials

[Term]
id: HP:0007105
name: Infantile encephalopathy
alt_id: HP:0006948
alt_id: HP:0007309
alt_id: HP:0007353
def: "Encephalopathy with onset in the infantile period." [HPO:probinson]
xref: UMLS:C1856408
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0007107
name: Segmental peripheral demyelination
def: "A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system." [HPO:probinson]
xref: UMLS:C4024938
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0007108
name: Demyelinating peripheral neuropathy
alt_id: HP:0007205
def: "Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies." [HPO:probinson]
xref: SNOMEDCT_US:23414001
xref: UMLS:C0270922
is_a: HP:0009830 ! Peripheral neuropathy
is_a: HP:0012447 ! Abnormal myelination

[Term]
id: HP:0007109
name: Periventricular cysts
xref: UMLS:C1839858
is_a: HP:0002518 ! Abnormality of the periventricular white matter
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0007110
name: Central hypoventilation
xref: UMLS:C3805839
is_a: HP:0002791 ! Hypoventilation

[Term]
id: HP:0007111
name: Chronic hepatic encephalopathy
xref: UMLS:C4024937
is_a: HP:0002480 ! Hepatic encephalopathy

[Term]
id: HP:0007112
name: Temporal cortical atrophy
def: "Atrophy of the temporal cortex." [HPO:probinson]
xref: UMLS:C4024936
is_a: HP:0002120 ! Cerebral cortical atrophy

[Term]
id: HP:0007115
name: Orbital encephalocele
xref: SNOMEDCT_US:15671007
xref: UMLS:C0271330
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0007117
name: Corticospinal tract atrophy
xref: UMLS:C1838868
is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts

[Term]
id: HP:0007123
name: Subcortical dementia
def: "A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change." [HPO:probinson, pmid:4819905]
xref: UMLS:C4024935
is_a: HP:0000726 ! Dementia

[Term]
id: HP:0007126
name: Proximal amyotrophy
alt_id: HP:0006792
alt_id: HP:0006966
alt_id: HP:0008943
alt_id: HP:0008980
alt_id: HP:0009041
def: "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:probinson]
comment: Proximal amyotrophy usually has a roughly symmetric distribution.
synonym: "Muscle atrophy, proximal" EXACT []
synonym: "Proximal muscle atrophy" EXACT []
synonym: "Proximal muscle wasting" EXACT []
synonym: "Symmetric proximal muscular atrophy" EXACT []
synonym: "Symmetrical, proximal limb muscle atrophy" EXACT []
synonym: "Wasting of muscles near the body" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C1850794
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0007129
name: Cerebellar medulloblastoma
xref: UMLS:C4024934
is_a: HP:0002885 ! Medulloblastoma

[Term]
id: HP:0007131
name: Acute demyelinating polyneuropathy
def: "Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration." [HPO:probinson]
comment: This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome.
xref: UMLS:C4024933
is_a: HP:0007108 ! Demyelinating peripheral neuropathy

[Term]
id: HP:0007132
name: Pallidal degeneration
def: "Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement." [HPO:probinson]
xref: SNOMEDCT_US:230302004
xref: UMLS:C0393577
is_a: HP:0002453 ! Abnormal globus pallidus morphology
is_a: HP:0012157 ! Subcortical cerebral atrophy

[Term]
id: HP:0007133
name: Progressive peripheral neuropathy
alt_id: HP:0007329
synonym: "Progressive polyneuropathy" EXACT []
xref: UMLS:C1859178
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0007141
name: Sensorimotor neuropathy
alt_id: HP:0007055
alt_id: HP:0007237
synonym: "Mixed polyneuropathy" EXACT []
synonym: "Nerve damage causing decreased feeling and movement" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Sensorimotor peripheral neuropathy" EXACT []
xref: UMLS:C1112256
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0007146
name: Bilateral basal ganglia lesions
xref: UMLS:C4024932
is_a: HP:0002134 ! Abnormality of the basal ganglia

[Term]
id: HP:0007149
name: Distal upper limb amyotrophy
def: "Muscular atrophy of distal arm muscles." [HPO:probinson]
synonym: "Distal upper limb muscle atrophy" EXACT []
xref: UMLS:C4021581
is_a: HP:0003693 ! Distal amyotrophy
is_a: HP:0009129 ! Upper limb amyotrophy

[Term]
id: HP:0007153
name: Progressive extrapyramidal movement disorder
xref: UMLS:C2748610
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function

[Term]
id: HP:0007156
name: Asymmetric limb muscle stiffness
def: "Stiffness of the limbs (acondition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern." [HPO:probinson]
xref: UMLS:C4024931
is_a: HP:0003552 ! Muscle stiffness
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0007158
name: Progressive extrapyramidal muscular rigidity
def: "A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [HPO:probinson]
synonym: "Progressive extrapyramidal rigidity" EXACT []
xref: UMLS:C4021580
is_a: HP:0007076 ! Extrapyramidal muscular rigidity

[Term]
id: HP:0007159
name: Fluctuations in consciousness
xref: UMLS:C1851959
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0007162
name: Diffuse demyelination of the cerebral white matter
def: "A diffuse loss of myelin from nerve fibers in the central nervous system." [HPO:probinson]
xref: UMLS:C4024930
is_a: HP:0007305 ! CNS demyelination

[Term]
id: HP:0007163
name: obsolete Corticospinal tract disease in lower limbs
is_obsolete: true
consider: HP:0007256

[Term]
id: HP:0007164
name: Slowed slurred speech
synonym: "Slowed slurred speech" EXACT layperson []
xref: UMLS:C4024929
is_a: HP:0001350 ! Slurred speech

[Term]
id: HP:0007165
name: Periventricular heterotopia
alt_id: HP:0002272
def: "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass." [HPO:probinson, PMID:22427329]
comment: Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome.
synonym: "Periventricular gray matter heterotopia" EXACT []
synonym: "Periventricular neuronal heterotopia" EXACT [HPO:curators]
synonym: "Subependymal gray matter heterotopia" EXACT [HPO:curators]
synonym: "Subependymal neuronal heterotopia" EXACT [HPO:curators]
xref: UMLS:C1849173
is_a: HP:0002282 ! Gray matter heterotopia

[Term]
id: HP:0007166
name: Paroxysmal dyskinesia
def: "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks." [HPO:probinson]
synonym: "Involuntary dystonic or choreiform movements" RELATED []
xref: MSH:D002819
xref: UMLS:C0752210
xref: UMLS:C1836174
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0007178
name: Motor polyneuropathy
alt_id: HP:0007278
synonym: "Peripheral motor neuropathy" EXACT []
xref: MSH:D009443
xref: MSH:D011115
xref: SNOMEDCT_US:85423005
xref: SNOMEDCT_US:95663000
xref: UMLS:C0235025
xref: UMLS:C0271683
is_a: HP:0009830 ! Peripheral neuropathy

[Term]
id: HP:0007179
name: Absent smooth pursuit
def: "A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [HPO:probinson]
xref: UMLS:C4024928
is_a: HP:0007772 ! Impaired smooth pursuit

[Term]
id: HP:0007181
name: Interosseus muscle atrophy
def: "Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones." [HPO:curators]
comment: This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles.
synonym: "Interosseous muscular atrophy" EXACT []
xref: UMLS:C1846829
is_a: HP:0003693 ! Distal amyotrophy

[Term]
id: HP:0007182
name: Peripheral hypomyelination
alt_id: HP:0007012
alt_id: HP:0007160
alt_id: HP:0007226
def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system." [HPO:probinson]
comment: This finding can be demonstrated by nerve biopsy.
xref: UMLS:C4024927
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0007183
name: Focal T2 hyperintense basal ganglia lesion
def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia." [HPO:probinson]
synonym: "Hyperintense lesions in the basal ganglia on MRI" RELATED []
xref: UMLS:C1865351
xref: UMLS:C4024926
is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity

[Term]
id: HP:0007185
name: Loss of consciousness
synonym: "Loss of consciousness" EXACT layperson []
synonym: "Passing out" EXACT layperson []
xref: MSH:D014474
xref: SNOMEDCT_US:418107008
xref: SNOMEDCT_US:419045004
xref: UMLS:C0041657
is_a: HP:0004372 ! Reduced consciousness/confusion

[Term]
id: HP:0007187
name: Focal lissencephaly
def: "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex." [KI:phemming]
xref: UMLS:C1855230
is_a: HP:0001339 ! Lissencephaly

[Term]
id: HP:0007188
name: Congenital facial diplegia
def: "Facial diplegia (that is, bilateral facial palsy) with congenital onset." [HPO:curators]
synonym: "Congenital bilateral facial palsy" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Congenital bilateral facial weakness" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:C531747
xref: UMLS:C0853240
is_a: HP:0001349 ! Facial diplegia

[Term]
id: HP:0007190
name: Neuronal loss in the cerebral cortex
xref: UMLS:C1849485
is_a: HP:0002538 ! Abnormality of the cerebral cortex

[Term]
id: HP:0007193
name: Generalized tonic-clonic seizures on awakening
alt_id: HP:0007008
def: "Generalized tonic-clonic seizures on awakening are a form of Generalized tonic-clonic seizures that occur upon awaking." [HPO:probinson]
synonym: "Morning generalized tonic-clonic seizures" EXACT layperson []
xref: UMLS:C1847165
is_a: HP:0002069 ! Generalized tonic-clonic seizures

[Term]
id: HP:0007199
name: Progressive spastic paraparesis
xref: UMLS:C0747251
is_a: HP:0002313 ! Spastic paraparesis

[Term]
id: HP:0007200
name: Episodic hypersomnia
xref: UMLS:C4024925
is_a: HP:0004372 ! Reduced consciousness/confusion
is_a: HP:0100786 ! Hypersomnia

[Term]
id: HP:0007201
name: Cerebral artery atherosclerosis
def: "Atherosclerosis (HP:0002621) of a cerebral artery." [HPO:probinson]
synonym: "Plaque build-up in cerebral artery" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024924
is_a: HP:0002621 ! Atherosclerosis
is_a: HP:0009145 ! Abnormal cerebral artery morphology

[Term]
id: HP:0007204
name: Diffuse white matter abnormalities
comment: This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging.
xref: UMLS:C4024923
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0007206
name: Hemimegalencephaly
def: "Enlargement of all or parts of one cerebral hemisphere." [HPO:probinson, pmid:17416820]
comment: The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia.
xref: MSH:D065705
xref: SNOMEDCT_US:253170008
xref: UMLS:C0431391
is_a: HP:0001355 ! Megalencephaly

[Term]
id: HP:0007207
name: Photosensitive tonic-clonic seizures
def: "Generalized tonic-clonic seizures that are triggered by flashing or flickering light." [HPO:probinson]
synonym: "Seizures, tonic-clonic, photosensitive" EXACT []
xref: UMLS:C1846131
is_a: HP:0002069 ! Generalized tonic-clonic seizures

[Term]
id: HP:0007208
name: Irregular myelin loops
def: "Presence of irregular redundant loops of focally folded myelin in a peripheral nerve." [pmid:20301641, pmid:8817346]
xref: UMLS:C4024922
is_a: HP:0030173 ! Peripheral hypermyelination

[Term]
id: HP:0007209
name: Facial paralysis
alt_id: HP:0007358
def: "Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve)." [HPO:probinson]
comment: Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment.
subset: hposlim_core
synonym: "Facial paralysis" EXACT layperson []
synonym: "Facial paresis" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D005158
xref: SNOMEDCT_US:280816001
xref: SNOMEDCT_US:95666008
xref: UMLS:C0015469
xref: UMLS:C0427055
is_a: HP:0001293 ! Cranial nerve compression
is_a: HP:0003470 ! Paralysis
is_a: HP:0030319 ! Weakness of facial musculature

[Term]
id: HP:0007210
name: Lower limb amyotrophy
def: "Muscular atrophy affecting the lower limb." [HPO:probinson]
xref: UMLS:C4024921
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0007215
name: Periodic hyperkalemic paralysis
def: "Episodes of muscle weakness associated with elevated levels of potassium in the blood." [HPO:probinson]
synonym: "Hyperkalemic periodic paralysis" EXACT []
xref: MSH:D020513
xref: SNOMEDCT_US:304737009
xref: UMLS:C0238357
is_a: HP:0003768 ! Periodic paralysis

[Term]
id: HP:0007220
name: Demyelinating motor neuropathy
def: "Demyelination of peripheral motor nerves." [HPO:probinson]
comment: Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies.
xref: UMLS:C1969462
is_a: HP:0007108 ! Demyelinating peripheral neuropathy
is_a: HP:0007178 ! Motor polyneuropathy

[Term]
id: HP:0007221
name: Progressive truncal ataxia
xref: UMLS:C1849143
is_a: HP:0002078 ! Truncal ataxia

[Term]
id: HP:0007227
name: Macrogyria
def: "Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum." [HPO:probinson]
xref: MSH:D054082
xref: SNOMEDCT_US:23024003
xref: UMLS:C0266483
is_a: HP:0002536 ! Abnormal cortical gyration

[Term]
id: HP:0007229
name: Intracerebral periventricular calcifications
def: "The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles." [HPO:probinson]
xref: UMLS:C1837246
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0007230
name: Decreased distal sensory nerve action potential
def: "A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies." [HPO:probinson]
xref: UMLS:C4024920
is_a: HP:0007078 ! Decreased amplitude of sensory action potentials

[Term]
id: HP:0007232
name: Spinocerebellar tract disease in lower limbs
xref: UMLS:C4024919
is_a: HP:0002503 ! Spinocerebellar tract degeneration

[Term]
id: HP:0007233
name: Clusters of axonal regeneration
def: "Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration." [HPO:jbaets]
xref: UMLS:C1843169
is_a: HP:0003450 ! Axonal regeneration

[Term]
id: HP:0007236
name: Recurrent subcortical infarcts
xref: UMLS:C4024918
is_a: HP:0010993 ! Abnormality of the cerebral subcortex

[Term]
id: HP:0007238
name: Nonarteriosclerotic cerebral calcification
synonym: "Cerebral calcification, nonarteriosclerotic" EXACT []
xref: UMLS:C4021579
is_a: HP:0002514 ! Cerebral calcification

[Term]
id: HP:0007239
name: Congenital encephalopathy
xref: UMLS:C4024917
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0007240
name: Progressive gait ataxia
alt_id: HP:0002142
def: "A type of gait ataxia displaying progression of clinical severity." [HPO:probinson]
synonym: "Gait ataxia, progressive" EXACT []
xref: UMLS:C1843885
is_a: HP:0002066 ! Gait ataxia

[Term]
id: HP:0007249
name: Decreased number of small peripheral myelinated nerve fibers
xref: UMLS:C4024916
is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers

[Term]
id: HP:0007250
name: Recurrent external ophthalmoplegia
def: "Alternating and recurrent weakness of the external ocular muscles." [HPO:probinson]
xref: UMLS:C4024915
is_a: HP:0000544 ! External ophthalmoplegia

[Term]
id: HP:0007256
name: Abnormal pyramidal sign
alt_id: HP:0003488
alt_id: HP:0007161
alt_id: HP:0007225
alt_id: HP:0007275
alt_id: HP:0007324
alt_id: HP:0007347
def: "Functional neurological abnormalities related to dysfunction of the pyramidal tract." [HPO:probinson]
comment: Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts.
synonym: "Corticospinal signs" EXACT []
synonym: "Pyramidal signs" EXACT []
synonym: "Pyramidal tract signs" EXACT []
xref: SNOMEDCT_US:14648003
xref: UMLS:C0234132
is_a: HP:0002493 ! Upper motor neuron dysfunction
is_a: HP:0031826 ! Abnormal reflex

[Term]
id: HP:0007258
name: Severe demyelination of the white matter
def: "A severe loss of myelin from nerve fibers in the central nervous system." [HPO:probinson]
xref: UMLS:C1856001
is_a: HP:0007305 ! CNS demyelination

[Term]
id: HP:0007260
name: Type II lissencephaly
alt_id: HP:0006853
def: "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers." [HPO:probinson]
synonym: "Cobblestone lissencephaly" EXACT []
synonym: "Lissencephaly type II" EXACT []
synonym: "Type 2 lissencephaly" EXACT []
xref: MSH:D054222
xref: SNOMEDCT_US:253149002
xref: UMLS:C0431376
is_a: HP:0001339 ! Lissencephaly

[Term]
id: HP:0007262
name: Symmetric peripheral demyelination
def: "A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson]
xref: UMLS:C4024914
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0007263
name: Spinocerebellar atrophy
def: "Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord." [HPO:probinson]
xref: MSH:D020754
xref: SNOMEDCT_US:129609000
xref: UMLS:C0087012
is_a: HP:0001272 ! Cerebellar atrophy

[Term]
id: HP:0007265
name: Absent mesencephalon
def: "Agenesis of the midbrain." [KI:phemming]
comment: Midbrain and mesencephalon are synonymous.
xref: UMLS:C4024913
is_a: HP:0002418 ! Abnormality of midbrain morphology

[Term]
id: HP:0007266
name: Cerebral dysmyelination
alt_id: HP:0007134
alt_id: HP:0007217
def: "Defective structure and function of myelin sheaths of the white matter of the brain." [HPO:probinson]
synonym: "Areas of dysmyelination on MRI" EXACT []
synonym: "Dysmyelination of the brain" EXACT []
synonym: "White matter dysmyelination/demyelination" RELATED []
xref: UMLS:C1854885
xref: UMLS:C4020810
is_a: HP:0011400 ! Abnormal CNS myelination

[Term]
id: HP:0007267
name: Chronic axonal neuropathy
alt_id: HP:0003446
def: "An abnormality characterized by chronic impairment of the normal functioning of the axons." [HPO:probinson]
comment: This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves.
synonym: "Chronic sural axonal neuropathy" EXACT []
xref: UMLS:C4021578
is_a: HP:0003477 ! Peripheral axonal neuropathy

[Term]
id: HP:0007268
name: Aprosencephaly
xref: MSH:D000757
xref: SNOMEDCT_US:277922001
xref: UMLS:C0431349
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum

[Term]
id: HP:0007269
name: Spinal muscular atrophy
def: "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:probinson]
synonym: "Spinal muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Spinal muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009134
xref: SNOMEDCT_US:5262007
xref: UMLS:C0026847
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0007270
name: Atypical absence seizure
def: "An atypical absence seizure has less abrupt onset and offset of loss of awareness than typical absence seizures. They are often associated with other features such as loss of muscle tone of the head, trunk or limbs (often a gradual slump) and subtle myoclonic jerks. Atypical absence seizures often occur in individuals with intellectual impairment.The loss of awareness may be minimal with the patient continuing an activity, but more slowly or with mistakes." [HPO:probinson, PMID:28276062]
synonym: "Atypical absence seizures" EXACT HP:0045078 []
synonym: "Atypical petit mal seizures" EXACT HP:0045078 [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:23374007
xref: UMLS:C0595948
is_a: HP:0002121 ! Absence seizure

[Term]
id: HP:0007271
name: Occipital myelomeningocele
xref: UMLS:C4024912
is_a: HP:0002436 ! Occipital meningocele

[Term]
id: HP:0007272
name: Progressive psychomotor deterioration
alt_id: HP:0006856
synonym: "Progressive mental and motor deterioration" EXACT []
xref: UMLS:C1856565
is_a: HP:0002344 ! Progressive neurologic deterioration

[Term]
id: HP:0007274
name: Recurrent bacterial meningitis
def: "An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis." [HPO:probinson]
xref: UMLS:C1845604
is_a: HP:0006946 ! Recurrent meningitis

[Term]
id: HP:0007277
name: Paucity of anterior horn motor neurons
xref: UMLS:C2673351
is_a: HP:0002450 ! Abnormal motor neuron morphology

[Term]
id: HP:0007280
name: Acute infantile spinal muscular atrophy
xref: UMLS:C4024911
is_a: HP:0007269 ! Spinal muscular atrophy

[Term]
id: HP:0007281
name: Developmental stagnation
alt_id: HP:0007130
alt_id: HP:0007198
def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills." [HPO:probinson]
synonym: "Developmental arrest" EXACT []
xref: UMLS:C1848980
is_a: HP:0012759 ! Neurodevelopmental abnormality

[Term]
id: HP:0007285
name: Facial palsy secondary to cranial hyperostosis
def: "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve." [HPO:probinson]
synonym: "Facial palsy caused by enlargement of cranial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Facial palsy caused by excessive growth of facial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Facial palsy caused by overgrowth of cranial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Facial palsy secondary to hypertrophy of cranial bones" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1849260
is_a: HP:0005465 ! Facial hyperostosis

[Term]
id: HP:0007286
name: Horizontal jerk nystagmus
def: "Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other." [HPO:probinson]
comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other.
xref: UMLS:C4024910
is_a: HP:0000666 ! Horizontal nystagmus

[Term]
id: HP:0007289
name: Limb fasciculations
alt_id: HP:0007049
def: "Fasciculations affecting the musculature of the arms and legs." [HPO:curators]
synonym: "Limb fasciculation" EXACT []
xref: UMLS:C1854657
is_a: HP:0002380 ! Fasciculations
is_a: HP:0010546 ! Muscle fibrillation
is_a: HP:0040064 ! Abnormality of limbs

[Term]
id: HP:0007291
name: Posterior fossa cyst
alt_id: HP:0006985
def: "A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle." [HPO:probinson, pmid:2816648]
xref: UMLS:C1857353
is_a: HP:0000932 ! Abnormality of the posterior cranial fossa
is_a: HP:0010576 ! Intracranial cystic lesion

[Term]
id: HP:0007293
name: Anterior sacral meningocele
xref: UMLS:C1867776
is_a: HP:0005765 ! Sacral meningocele

[Term]
id: HP:0007295
name: Chaotic rapid conjugate ocular movements
xref: UMLS:C4024909
is_a: HP:0012547 ! Abnormal involuntary eye movements

[Term]
id: HP:0007299
name: Dysfunction of lateral corticospinal tracts
xref: UMLS:C1832671
is_a: HP:0002493 ! Upper motor neuron dysfunction

[Term]
id: HP:0007301
name: Oromotor apraxia
xref: UMLS:C4021845
is_a: HP:0002186 ! Apraxia

[Term]
id: HP:0007302
name: Bipolar affective disorder
alt_id: HP:0000755
synonym: "Bipolar disorder" EXACT layperson []
xref: MSH:D001714
xref: SNOMEDCT_US:13746004
xref: UMLS:C0005586
is_a: HP:0031466 ! Impairment in personality functioning
is_a: HP:0100754 ! Mania

[Term]
id: HP:0007305
name: CNS demyelination
alt_id: HP:0007222
def: "A loss of myelin from nerve fibers in the central nervous system." [HPO:probinson]
comment: CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes.
synonym: "Demyelination in central white matter" EXACT []
xref: UMLS:C0338474
is_a: HP:0011400 ! Abnormal CNS myelination

[Term]
id: HP:0007307
name: Rapid neurologic deterioration
xref: UMLS:C4024908
is_a: HP:0002344 ! Progressive neurologic deterioration

[Term]
id: HP:0007308
name: Extrapyramidal dyskinesia
xref: UMLS:C1848528
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function
is_a: HP:0100660 ! Dyskinesia

[Term]
id: HP:0007311
name: Short stepped shuffling gait
synonym: "Short stepped shuffling walk" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3805715
is_a: HP:0002362 ! Shuffling gait

[Term]
id: HP:0007313
name: Cerebral degeneration
alt_id: HP:0006874
synonym: "Neuroaxonal degeneration in the brain" EXACT []
xref: SNOMEDCT_US:418143002
xref: SNOMEDCT_US:52522001
xref: UMLS:C0154671
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum

[Term]
id: HP:0007314
name: obsolete White matter neuronal heterotopia
is_obsolete: true
replaced_by: HP:0002282

[Term]
id: HP:0007316
name: obsolete Involuntary writhing movements
is_obsolete: true
replaced_by: HP:0002305

[Term]
id: HP:0007321
name: Deep white matter hypodensities
def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter." [HPO:probinson, pmid:16239634]
comment: See also defintion for "Periventricular white matter hypodensities". These two entities are in contra-distinction to each other.
synonym: "Deep cerebral white matter hypodensities" EXACT []
xref: UMLS:C1856979
is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0007325
name: Generalized dystonia
def: "A type of dystonia that affects all or most of the body." [HPO:probinson]
xref: SNOMEDCT_US:425492002
xref: UMLS:C1848954
is_a: HP:0001332 ! Dystonia

[Term]
id: HP:0007326
name: Progressive choreoathetosis
xref: UMLS:C1860216
is_a: HP:0001266 ! Choreoathetosis

[Term]
id: HP:0007327
name: Mixed demyelinating and axonal polyneuropathy
xref: UMLS:C4024907
is_a: HP:0009830 ! Peripheral neuropathy
is_a: HP:0012447 ! Abnormal myelination

[Term]
id: HP:0007328
name: Impaired pain sensation
alt_id: HP:0002713
def: "Reduced ability to perceive painful stimuli." [HPO:probinson]
synonym: "Decreased pain sensation" EXACT layperson []
synonym: "Decreased pinprick sensation" EXACT []
synonym: "Impaired pain sensation" EXACT layperson []
xref: UMLS:C1837522
is_a: HP:0010832 ! Abnormality of pain sensation

[Term]
id: HP:0007330
name: Frontal encephalocele
xref: MSH:D004677
xref: SNOMEDCT_US:253103006
xref: UMLS:C0431289
is_a: HP:0002084 ! Encephalocele

[Term]
id: HP:0007332
name: Hemifacial seizures
def: "Focal clonic seizures affecting one side of the face." [HPO:jalbers]
comment: Used to describe rolandic seizures in familial epilepsy syndromes, such as Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (PMID 10072049).
xref: UMLS:C4024906
is_a: HP:0002266 ! Focal clonic seizures

[Term]
id: HP:0007333
name: Hypoplasia of the frontal lobes
alt_id: HP:0002424
def: "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken]
synonym: "Frontal lobe hypoplasia" EXACT []
synonym: "Hypoplastic frontal lobes" EXACT []
synonym: "Underdeveloped frontal lobe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849172
is_a: HP:0002538 ! Abnormality of the cerebral cortex
is_a: HP:0006872 ! Cerebral hypoplasia

[Term]
id: HP:0007334
name: Generalized tonic-clonic seizures with focal onset
alt_id: HP:0002602
def: "Bilateral convulsive seizures are focal seizure with secondary bilateral motor phenomena, not primary generalized seizures." [HPO:probinson]
synonym: "Bilateral convulsive seizures" EXACT []
synonym: "Partial seizures with secondary generalization" EXACT []
synonym: "Secondarily generalised tonic-clonic seizures" EXACT []
synonym: "Secondary generalized tonic clonic seizures" EXACT []
synonym: "Secondary generalized tonic-clonic seizures" EXACT []
xref: UMLS:C0877017
is_a: HP:0002069 ! Generalized tonic-clonic seizures

[Term]
id: HP:0007335
name: Recurrent encephalopathy
alt_id: HP:0006947
def: "Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections." [HPO:probinson]
synonym: "Recurrent cerebellar and extrapyramidal encephalopathy" EXACT []
xref: UMLS:C1850719
is_a: HP:0001298 ! Encephalopathy

[Term]
id: HP:0007338
name: Hypermetric saccades
def: "A saccade that overshoots the target with the dynamic saccade." [HPO:probinson, pmid:572501]
xref: SNOMEDCT_US:246769000
xref: UMLS:C0423083
is_a: HP:0000570 ! Abnormal saccadic eye movements

[Term]
id: HP:0007340
name: Lower limb muscle weakness
alt_id: HP:0002065
alt_id: HP:0002477
alt_id: HP:0009047
def: "Weakness of the muscles of the legs." [HPO:curators]
comment: Inability to perform rapid, alternating movements.
synonym: "Leg weakness" RELATED layperson [HPO:skoehler]
synonym: "Lower extremity weakness" EXACT layperson []
synonym: "Lower limb muscle weakness" EXACT layperson []
synonym: "Lower limb weakness" EXACT layperson []
synonym: "Muscle weakness in lower limbs" EXACT layperson []
xref: SNOMEDCT_US:249945007
xref: UMLS:C0427068
xref: UMLS:C1836296
is_a: HP:0003690 ! Limb muscle weakness

[Term]
id: HP:0007341
name: Diffuse swelling of cerebral white matter
xref: UMLS:C1858855
is_a: HP:0002500 ! Abnormality of the cerebral white matter

[Term]
id: HP:0007343
name: Abnormal morphology of the limbic system
def: "Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]." []
synonym: "Limbic malformation" EXACT []
xref: UMLS:C1863392
is_a: HP:0100547 ! Abnormality of forebrain morphology

[Term]
id: HP:0007344
name: Atrophy/Degeneration involving the spinal cord
synonym: "Atrophic and degenerative changes in the spinal cord" EXACT []
xref: UMLS:C1843858
is_a: HP:0002143 ! Abnormality of the spinal cord
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system

[Term]
id: HP:0007346
name: Subcortical white matter calcifications
xref: UMLS:C1851430
is_a: HP:0002500 ! Abnormality of the cerebral white matter
is_a: HP:0002514 ! Cerebral calcification
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0007348
name: Hypoplasia of the pyramidal tract
xref: UMLS:C1850871
is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract

[Term]
id: HP:0007350
name: Hyperreflexia in upper limbs
xref: UMLS:C1843175
is_a: HP:0001347 ! Hyperreflexia

[Term]
id: HP:0007351
name: Upper limb postural tremor
alt_id: HP:0007297
def: "A type of tremors that is triggered by holding an arm in a fixed position." [HPO:probinson]
synonym: "Postural tremor of arms" EXACT []
xref: UMLS:C1867138
is_a: HP:0002174 ! Postural tremor
is_a: HP:0200085 ! Limb tremor

[Term]
id: HP:0007352
name: Cerebellar calcifications
xref: UMLS:C1851431
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0007354
name: Amyotrophic lateral sclerosis
synonym: "Lou Gehrig's disease" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D000690
xref: SNOMEDCT_US:86044005
xref: UMLS:C0002736
is_a: HP:0007373 ! Motor neuron atrophy

[Term]
id: HP:0007359
name: Focal-onset seizure
alt_id: HP:0002358
def: "Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere." [HPO:jalbers]
comment: Partial seizures can be classified as simple (consciousness is maintained) or complex (consciousness is impaired or lost).
synonym: "Focal seizure" EXACT []
synonym: "Focal seizures" EXACT HP:0045078 []
synonym: "Focal-onset seizures" EXACT HP:0045078 []
synonym: "Partial seizures" EXACT []
synonym: "Seizure affecting one half of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D012640
xref: SNOMEDCT_US:29753000
xref: UMLS:C0751495
is_a: HP:0001250 ! Seizures
created_by: peter
creation_date: 2008-03-31T05:27:00Z

[Term]
id: HP:0007360
name: Aplasia/Hypoplasia of the cerebellum
alt_id: HP:0006857
alt_id: HP:0007368
synonym: "Absent/small cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Atrophy/Degeneration affecting the cerebellum" EXACT []
synonym: "Atrophy/Hypoplasia of the cerebellum" EXACT []
synonym: "Cerebellar hypoplasia/atrophy" EXACT []
xref: UMLS:C3279222
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
created_by: peter
creation_date: 2008-03-31T05:30:00Z

[Term]
id: HP:0007361
name: Abnormality of the pons
def: "An abnormality of the pons." [HPO:probinson]
comment: The pons is the portion of the brainstem superior to the medulla oblongata.
xref: UMLS:C4024905
is_a: HP:0002363 ! Abnormality of brainstem morphology
is_a: HP:0011283 ! Abnormality of the metencephalon
created_by: peter
creation_date: 2008-03-31T05:32:00Z

[Term]
id: HP:0007362
name: Aplasia/Hypoplasia of the brainstem
synonym: "Absent/small brainstem" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped brainstem" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024904
is_a: HP:0002363 ! Abnormality of brainstem morphology
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
created_by: peter
creation_date: 2008-03-31T05:33:00Z

[Term]
id: HP:0007363
name: Aplasia/Hypoplasia of the pyramidal tract
xref: UMLS:C4024903
is_a: HP:0002062 ! Morphological abnormality of the pyramidal tract
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
created_by: peter
creation_date: 2008-03-31T05:41:00Z

[Term]
id: HP:0007364
name: Aplasia/Hypoplasia of the cerebrum
synonym: "Absent/small cerebrum" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped cerebrum" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024902
is_a: HP:0002060 ! Abnormality of the cerebrum
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
created_by: peter
creation_date: 2008-03-31T05:43:00Z

[Term]
id: HP:0007365
name: Aplasia/Hypoplasia involving the corticospinal tracts
xref: UMLS:C4024901
is_a: HP:0002492 ! Abnormality of the corticospinal tract
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
created_by: peter
creation_date: 2008-03-31T05:45:00Z

[Term]
id: HP:0007366
name: Atrophy/Degeneration affecting the brainstem
synonym: "Brainstem atrophy" EXACT []
xref: UMLS:C4024900
is_a: HP:0002363 ! Abnormality of brainstem morphology
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
created_by: peter
creation_date: 2008-04-01T10:22:00Z

[Term]
id: HP:0007367
name: Atrophy/Degeneration affecting the central nervous system
synonym: "Atrophy/Degeneration affecting the CNS" EXACT HP:0045077 []
xref: UMLS:C4024899
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
created_by: peter
creation_date: 2008-04-01T10:23:00Z

[Term]
id: HP:0007369
name: Atrophy/Degeneration affecting the cerebrum
def: "The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain." [HPO:probinson]
xref: UMLS:C4024898
is_a: HP:0002060 ! Abnormality of the cerebrum
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0012444 ! Brain atrophy
created_by: peter
creation_date: 2008-04-01T10:28:00Z

[Term]
id: HP:0007370
name: Aplasia/Hypoplasia of the corpus callosum
alt_id: HP:0007003
alt_id: HP:0007060
alt_id: HP:0007061
alt_id: HP:0007137
def: "Absence or underdevelopment of the corpus callosum." [HPO:probinson]
synonym: "Absent/hypoplastic corpus callosum" EXACT []
synonym: "Agenesis/hypoplastic corpus callosum" EXACT []
synonym: "Complete or partial absence of the corpus callosum" EXACT []
synonym: "Hypoplasia or absence of the corpus callosum" EXACT []
synonym: "Hypoplastic or absent corpus callosum" EXACT []
xref: UMLS:C1861866
is_a: HP:0001273 ! Abnormal corpus callosum morphology
is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum
created_by: peter
creation_date: 2008-04-01T10:35:00Z

[Term]
id: HP:0007371
name: Corpus callosum atrophy
alt_id: HP:0005712
def: "The presence of atrophy (wasting) of the corpus callosum." [HPO:sdoelken]
synonym: "Atrophic corpus callosum" EXACT []
synonym: "Atrophy of the corpus callosum" EXACT []
synonym: "Atrophy/Degeneration of the corpus callosum" EXACT []
xref: SNOMEDCT_US:253142006
xref: UMLS:C0431370
is_a: HP:0001273 ! Abnormal corpus callosum morphology
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum
is_a: HP:0012762 ! Cerebral white matter atrophy
created_by: peter
creation_date: 2008-04-01T10:36:00Z

[Term]
id: HP:0007372
name: Atrophy/Degeneration involving the corticospinal tracts
xref: UMLS:C4024897
is_a: HP:0002492 ! Abnormality of the corticospinal tract
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
created_by: peter
creation_date: 2008-04-01T10:38:00Z

[Term]
id: HP:0007373
name: Motor neuron atrophy
def: "Wasting involving the motor neuron." [HPO:probinson]
synonym: "Motor neuron degeneration" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024896
is_a: HP:0002450 ! Abnormal motor neuron morphology
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
created_by: peter
creation_date: 2008-04-01T10:39:00Z

[Term]
id: HP:0007374
name: Atrophy/Degeneration involving the caudate nucleus
xref: UMLS:C4024895
is_a: HP:0002339 ! Abnormal caudate nucleus morphology
is_a: HP:0012444 ! Brain atrophy
created_by: peter
creation_date: 2008-04-01T10:47:00Z

[Term]
id: HP:0007375
name: Abnormality of the septum pellucidum
def: "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." [HPO:probinson]
xref: UMLS:C4024894
is_a: HP:0002060 ! Abnormality of the cerebrum
created_by: peter
creation_date: 2008-04-01T10:48:00Z

[Term]
id: HP:0007376
name: Abnormality of the choroid plexus
def: "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells." [HPO:probinson]
comment: The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced.
xref: UMLS:C4024893
is_a: HP:0002118 ! Abnormality of the cerebral ventricles
created_by: peter
creation_date: 2008-04-01T10:52:00Z

[Term]
id: HP:0007377
name: Abnormality of somatosensory evoked potentials
def: "An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex." [HPO:curators]
synonym: "Abnormality of SSEPs" EXACT []
xref: UMLS:C4021577
is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology
is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology
created_by: peter
creation_date: 2008-04-01T11:23:00Z

[Term]
id: HP:0007378
name: Neoplasm of the gastrointestinal tract
def: "A tumor (abnormal growth of tissue) of the gastrointestinal tract." [HPO:probinson]
synonym: "Gastrointestinal tract neoplasia" EXACT []
synonym: "Gastrointestinal tract neoplasm" EXACT []
synonym: "Gastrointestinal tract tumor" EXACT layperson []
synonym: "GI tract tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Neoplasm of the GI tract" EXACT HP:0045077 []
xref: MSH:D005770
xref: NCIT:C3262
xref: SNOMEDCT_US:126768004
xref: UMLS:C0017185
is_a: HP:0011024 ! Abnormality of the gastrointestinal tract
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: peter
creation_date: 2008-04-01T11:55:00Z

[Term]
id: HP:0007379
name: Neoplasm of the genitourinary tract
def: "A tumor (abnormal growth of tissue) of the genitourinary system." [HPO:probinson]
synonym: "Genitourinary tract neoplasia" RELATED []
synonym: "Genitourinary tract neoplasm" EXACT []
synonym: "Genitourinary tract tumors" EXACT layperson []
synonym: "Neoplasm of the GU tract" EXACT HP:0045077 []
xref: MSH:D014565
xref: NCIT:C3262
xref: UMLS:C0042065
xref: UMLS:C4020809
is_a: HP:0000119 ! Abnormality of the genitourinary system
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: peter
creation_date: 2008-04-01T12:00:00Z

[Term]
id: HP:0007380
name: Facial telangiectasia
alt_id: HP:0007520
def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:probinson]
synonym: "Facial telangiectatic vessels" EXACT []
synonym: "Telangiectasia, facial" EXACT []
xref: UMLS:C0858684
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0007381
name: Congenital exfoliative erythroderma
xref: UMLS:C4024892
is_a: HP:0001019 ! Erythroderma

[Term]
id: HP:0007383
name: Congenital localized absence of skin
alt_id: HP:0007557
synonym: "Congenital localized skin absence" EXACT []
xref: UMLS:C2673597
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007384
name: Aberrant melanosome maturation
xref: UMLS:C1969516
is_a: HP:0011125 ! Abnormality of dermal melanosomes

[Term]
id: HP:0007385
name: Aplasia cutis congenita of scalp
alt_id: HP:0000994
alt_id: HP:0007568
def: "A developmental defect resulting in the congenital absence of skin on the scalp." [HPO:probinson]
subset: hposlim_core
synonym: "Defect of scalp" BROAD []
synonym: "Focal absence of scalp tissue" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Scalp aplasia cutis congenita" EXACT []
synonym: "Scalp defect" BROAD []
synonym: "Solitary scalp defect" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C1855698
xref: UMLS:C4048801
xref: UMLS:C4072857
xref: UMLS:C4072858
is_a: HP:0001057 ! Aplasia cutis congenita

[Term]
id: HP:0007387
name: Hypoplastic sweat glands
def: "Underdevelopment of the sweat glands." [HPO:curators]
synonym: "Underdeveloped sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1832455
is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands

[Term]
id: HP:0007390
name: Hyperkeratosis with erythema
xref: UMLS:C4024891
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007392
name: Excessive wrinkled skin
synonym: "Excessive wrinkled skin" EXACT layperson []
xref: UMLS:C4024890
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin
is_a: HP:0100678 ! Premature skin wrinkling

[Term]
id: HP:0007394
name: Prominent superficial blood vessels
alt_id: HP:0007577
synonym: "Prominent superficial blood vessels" EXACT layperson []
synonym: "Prominent superficial vasculature" EXACT layperson []
xref: UMLS:C1848771
is_a: HP:0011276 ! Vascular skin abnormality

[Term]
id: HP:0007395
name: Postnatal-onset ichthyosiform erythroderma
def: "A type of ichthyosiform erythroderma with postnatal onset." [HPO:probinson]
synonym: "Postnatal-onset ichthyosis" EXACT []
xref: UMLS:C4021576
is_a: HP:0008064 ! Ichthyosis

[Term]
id: HP:0007396
name: Early cutaneous photosensitivity
def: "Photosensitivity of the skin occurring early in life." [HPO:probinson]
synonym: "Sun sensitivity occurring early in life" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024889
is_a: HP:0000992 ! Cutaneous photosensitivity

[Term]
id: HP:0007397
name: Axillary apocrine gland hypoplasia
def: "Developmental hypoplasia of the apocrine sweat glands in the region of the axilla." [HPO:probinson]
xref: UMLS:C1867003
is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands

[Term]
id: HP:0007398
name: Asymmetric, linear skin defects
xref: UMLS:C4024888
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007400
name: Irregular hyperpigmentation
xref: UMLS:C1860236
is_a: HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: HP:0007401
name: Macular atrophy
def: "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [ORCID:0000-0003-0986-4123]
xref: MSH:D057088
xref: SNOMEDCT_US:238828009
xref: UMLS:C1288283
is_a: HP:0000608 ! Macular degeneration
is_a: HP:0001105 ! Retinal atrophy

[Term]
id: HP:0007402
name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
xref: UMLS:C4024886
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin

[Term]
id: HP:0007403
name: Hypertrophy of skin of soles
synonym: "Thick skin of soles" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1867617
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007404
name: Nonepidermolytic palmoplantar keratoderma
xref: MSH:C563422
xref: UMLS:C1833030
is_a: HP:0000982 ! Palmoplantar keratoderma

[Term]
id: HP:0007406
name: Hyperpigmentation of eyelids
synonym: "Brown eyelids" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Dark eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Pigmentation of eyelids" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C562400
xref: SNOMEDCT_US:41115008
xref: UMLS:C0155211
xref: UMLS:C0854438
xref: UMLS:C4280440
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007407
name: Excessive skin wrinkling on dorsum of hands and fingers
synonym: "Excessive skin wrinkling on back of hands and fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1837467
is_a: HP:0007392 ! Excessive wrinkled skin

[Term]
id: HP:0007408
name: Tegumentary leishmaniasis susceptibility
def: "Increased susceptibility to infection by the protozan parasite of the genus Leishmania." [HPO:probinson]
xref: UMLS:C2748501
is_a: HP:0005386 ! Recurrent protozoan infections

[Term]
id: HP:0007409
name: obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs
is_obsolete: true
replaced_by: HP:0003758

[Term]
id: HP:0007410
name: Palmoplantar hyperhidrosis
alt_id: HP:0007624
def: "An abnormally increased perspiration on palms and soles." [HPO:probinson]
synonym: "Excessive sweating of palms and soles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hyperhidrosis of palms and soles" EXACT []
xref: MSH:C563185
xref: SNOMEDCT_US:403375001
xref: UMLS:C1274743
is_a: HP:0006089 ! Palmar hyperhidrosis
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007411
name: Hypoplastic-absent sebaceous glands
xref: UMLS:C1844617
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007412
name: Macular hyperpigmented dermopathy
xref: UMLS:C4024885
is_a: HP:0001034 ! Hypermelanotic macule

[Term]
id: HP:0007413
name: Nevus flammeus of the forehead
def: "Naevus flammeus localised in the skin of the forehead." [HPO:sdoelken]
synonym: "Port-wine stain on forehead" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1848850
is_a: HP:0001052 ! Nevus flammeus

[Term]
id: HP:0007414
name: Neonatal wrinkled skin of hands and feet
synonym: "Wrinkled skin of hands and feet in newborn" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024884
is_a: HP:0100678 ! Premature skin wrinkling

[Term]
id: HP:0007417
name: Discoid lupus rash
alt_id: HP:0000981
def: "Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy." []
comment: This lesion is characterstic of discoid lupus erythematosus, but similar lesions may be observed in other diseases.
synonym: "Discoid lupus erythematosus" EXACT []
xref: MSH:D008179
xref: SNOMEDCT_US:200938002
xref: SNOMEDCT_US:238927000
xref: UMLS:C0024138
is_a: HP:0000988 ! Skin rash
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0007418
name: Alopecia totalis
def: "Loss of all scalp hair." [HPO:probinson]
synonym: "Total alopecia" RELATED []
xref: SNOMEDCT_US:19754005
xref: UMLS:C0263504
is_a: HP:0001596 ! Alopecia

[Term]
id: HP:0007420
name: Spontaneous hematomas
def: "Spontaneous development of hematomas (hematoma) or bruises without significant trauma." [DDD:akelly]
xref: UMLS:C1697453
is_a: HP:0001933 ! Subcutaneous hemorrhage

[Term]
id: HP:0007421
name: Telangiectases of the cheeks
def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks." [HPO:curators]
synonym: "Telangiectasia on the cheeks" RELATED [HPO:skoehler]
xref: UMLS:C3554587
is_a: HP:0007380 ! Facial telangiectasia

[Term]
id: HP:0007425
name: Hyperextensible skin of face
synonym: "Hyperelastic face skin" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stretchable face skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024883
is_a: HP:0007458 ! Focal hyperextensible skin

[Term]
id: HP:0007427
name: Reticulated skin pigmentation
synonym: "Reticular pigmentation pattern" RELATED [HPO:skoehler]
synonym: "Reticulate skin pigmentation" RELATED [HPO:skoehler]
xref: UMLS:C3279575
xref: UMLS:C3279601
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007428
name: Telangiectasia of the oral mucosa
def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa." [HPO:probinson]
synonym: "Angioectasia of the oral mucosa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Angioectasia of the oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Spider veins of the oral mucosa" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Telangiectasia of the oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024882
is_a: HP:0000228 ! Oral cavity telangiectasia

[Term]
id: HP:0007429
name: Few cafe-au-lait spots
def: "The presence of two to five cafe-au-lait macules." [DDD:cmoss]
xref: UMLS:C4024881
is_a: HP:0000957 ! Cafe-au-lait spot

[Term]
id: HP:0007430
name: Generalized edema
alt_id: HP:0007575
def: "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:curators]
synonym: "Generalized tissue edema" EXACT []
xref: SNOMEDCT_US:271808008
xref: UMLS:C1850534
is_a: HP:0000969 ! Edema

[Term]
id: HP:0007431
name: Congenital ichthyosiform erythroderma
alt_id: HP:0007478
alt_id: HP:0007484
def: "An ichthyosiform abnormality of the skin with congenital onset." [HPO:probinson]
synonym: "Congenital ichthyosis" EXACT []
synonym: "Ichthyosis, congenital" EXACT []
xref: MSH:D016113
xref: SNOMEDCT_US:254156001
xref: SNOMEDCT_US:268282005
xref: UMLS:C0079583
is_a: HP:0008064 ! Ichthyosis

[Term]
id: HP:0007432
name: Intermittent generalized erythematous papular rash
xref: UMLS:C2749995
is_a: HP:0200034 ! Papule

[Term]
id: HP:0007434
name: Plaque-like facial hemangioma
def: "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology." [HPO:probinson]
synonym: "Hemangioma, facial, plaque-like" EXACT []
xref: UMLS:C1847884
is_a: HP:0000329 ! Facial hemangioma

[Term]
id: HP:0007435
name: Diffuse palmoplantar keratoderma
xref: MSH:D015776
xref: SNOMEDCT_US:400123002
xref: UMLS:C0022584
is_a: HP:0000982 ! Palmoplantar keratoderma

[Term]
id: HP:0007436
name: Hair-nail ectodermal dysplasia
xref: UMLS:C4024880
is_a: HP:0000968 ! Ectodermal dysplasia

[Term]
id: HP:0007437
name: Multiple cutaneous leiomyomas
def: "The presence of multiple leiomyomas of the skin." [HPO:probinson]
xref: MSH:C535516
xref: NCIT:C3157
xref: UMLS:C1708350
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0007438
name: Mottled pigmentation of the trunk and proximal extremities
xref: UMLS:C1851551
is_a: HP:0001070 ! Mottled pigmentation

[Term]
id: HP:0007439
name: Generalized keratosis follicularis
xref: UMLS:C4024879
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0007440
name: Generalized hyperpigmentation
alt_id: HP:0007540
xref: UMLS:C4024878
is_a: HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: HP:0007441
name: Hyperpigmented/hypopigmented macules
xref: UMLS:C4024877
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin
is_a: HP:0012733 ! Macule

[Term]
id: HP:0007443
name: Partial albinism
alt_id: HP:0001044
def: "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs." [HPO:probinson]
synonym: "Congenital partial albinism on face, trunk, or limbs" EXACT []
synonym: "Congenital partial leucoderma" EXACT []
synonym: "Partial absent skin pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D016116
xref: SNOMEDCT_US:6479008
xref: SNOMEDCT_US:718122005
xref: UMLS:C0080024
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007446
name: Palmoplantar blistering
def: "A type of blistering that affects the skin of the palms of the hands and the soles of the feet." [HPO:probinson]
xref: UMLS:C4024876
is_a: HP:0040211 ! Abnormality of the skin of the palm
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007447
name: Diffuse palmoplantar hyperkeratosis
synonym: "Hyperkeratosis, diffuse palmoplantar" EXACT []
xref: UMLS:C4021575
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007448
name: Hyperkeratosis over edematous areas
xref: UMLS:C1835253
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0000969 ! Edema

[Term]
id: HP:0007449
name: Confetti-like hypopigmented macules
xref: UMLS:C1851705
is_a: HP:0020073 ! Hypopigmented macule

[Term]
id: HP:0007450
name: Increased groin pigmentation with raindrop depigmentation
xref: UMLS:C4024875
is_a: HP:0007400 ! Irregular hyperpigmentation
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin

[Term]
id: HP:0007451
name: Ipsilateral lack of facial sweating
xref: UMLS:C4024874
is_a: HP:0025276 ! Abnormality of skin adnexa physiology

[Term]
id: HP:0007452
name: Midface capillary hemangioma
alt_id: HP:0007611
synonym: "Midfacial capillary hemangioma" EXACT []
xref: UMLS:C1849377
is_a: HP:0000996 ! Facial capillary hemangioma

[Term]
id: HP:0007453
name: Flexural lichenification
def: "Lichenification affecting primarily flexural areas of the skin." [HPO:probinson]
comment: The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces.
xref: UMLS:C4024873
is_a: HP:0100725 ! Lichenification

[Term]
id: HP:0007455
name: Adermatoglyphia
xref: MSH:C565010
xref: UMLS:C1852150
is_a: HP:0007477 ! Abnormal dermatoglyphics

[Term]
id: HP:0007456
name: Progressive reticulate hyperpigmentation
xref: UMLS:C4024872
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007457
name: Prominent veins on trunk
def: "Prominent thoracic and abdominal veins." [HPO:probinson]
xref: UMLS:C4024871
is_a: HP:0001015 ! Prominent superficial veins

[Term]
id: HP:0007458
name: Focal hyperextensible skin
xref: UMLS:C4024870
is_a: HP:0000974 ! Hyperextensible skin

[Term]
id: HP:0007459
name: Generalized anhidrosis
synonym: "Generalized inability to sweat" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024869
is_a: HP:0025276 ! Abnormality of skin adnexa physiology

[Term]
id: HP:0007460
name: Autoamputation of digits
xref: UMLS:C1852289
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0001218 ! Autoamputation

[Term]
id: HP:0007461
name: Hemangiomatosis
xref: SNOMEDCT_US:254785001
xref: SNOMEDCT_US:47669001
xref: UMLS:C1384590
is_a: HP:0001028 ! Hemangioma

[Term]
id: HP:0007462
name: Bitot spots of the conjunctiva
def: "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot." [HPO:probinson]
comment: Bitot spots can be a feature of vitamin A deficiency.
synonym: "Bitot's spots" RELATED []
xref: SNOMEDCT_US:246871006
xref: UMLS:C0423178
xref: UMLS:C4024868
is_a: HP:0000502 ! Abnormal conjunctiva morphology

[Term]
id: HP:0007464
name: Sparse facial hair
def: "Reduced number or density of facial hair." [HPO:probinson]
synonym: "Sparse facial hair" EXACT layperson []
xref: UMLS:C2017869
is_a: HP:0008070 ! Sparse hair

[Term]
id: HP:0007465
name: Honeycomb palmoplantar keratoderma
xref: UMLS:C1866032
is_a: HP:0000982 ! Palmoplantar keratoderma

[Term]
id: HP:0007466
name: Midfrontal capillary hemangioma
xref: UMLS:C1859339
is_a: HP:0000996 ! Facial capillary hemangioma

[Term]
id: HP:0007468
name: Perifollicular hyperkeratosis
def: "Increased amount of keratin (visible as white scales) surrounding hair follicles." [PMID:23044575]
subset: hposlim_core
xref: UMLS:C4024867
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0031285 ! Abnormal perifollicular morphology

[Term]
id: HP:0007469
name: Palmoplantar cutis gyrata
def: "Cutis gyrata of palms and soles." [HPO:probinson]
synonym: "Cutis gyrata of palms and soles" EXACT []
xref: UMLS:C1851797
is_a: HP:0007477 ! Abnormal dermatoglyphics
is_a: HP:0040211 ! Abnormality of the skin of the palm
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007470
name: Periarticular subcutaneous nodules
def: "Subcutaneous nodules that are located in the vicinity of joints." [HPO:probinson]
xref: UMLS:C3806306
is_a: HP:0001482 ! Subcutaneous nodule

[Term]
id: HP:0007471
name: Axillary and groin hyperpigmentation and hypopigmentation
xref: UMLS:C4024866
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin

[Term]
id: HP:0007473
name: Crusting erythematous dermatitis
xref: UMLS:C1868496
is_a: HP:0011123 ! Inflammatory abnormality of the skin

[Term]
id: HP:0007475
name: Congenital bullous ichthyosiform erythroderma
def: "An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet." [HPO:probinson]
comment: Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature.
synonym: "Bullous congenital ichthyosiform erythroderma" EXACT []
synonym: "Epidermolytic hyperkeratosis" EXACT []
xref: MSH:D017488
xref: SNOMEDCT_US:239071005
xref: SNOMEDCT_US:254167000
xref: UMLS:C0079153
is_a: HP:0007431 ! Congenital ichthyosiform erythroderma

[Term]
id: HP:0007476
name: Anhidrotic ectodermal dysplasia
xref: MSH:D004476
xref: SNOMEDCT_US:7731005
xref: UMLS:C1706004
is_a: HP:0000968 ! Ectodermal dysplasia

[Term]
id: HP:0007477
name: Abnormal dermatoglyphics
alt_id: HP:0007422
def: "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal fingerprints" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Dermatoglyphic abnormalities" EXACT []
xref: SNOMEDCT_US:83145004
xref: UMLS:C0432333
is_a: HP:0011356 ! Regional abnormality of skin

[Term]
id: HP:0007479
name: Congenital nonbullous ichthyosiform erythroderma
alt_id: HP:0001021
alt_id: HP:0007388
alt_id: HP:0007512
alt_id: HP:0007619
alt_id: HP:0007625
def: "The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales." [HPO:sdoelken]
synonym: "Collodion baby" EXACT []
synonym: "Congenital lamellar ichthyosis" EXACT []
synonym: "Congenital non-bullous ichthyosis" EXACT []
synonym: "Ichthyosis lammellaris" EXACT []
synonym: "Ichthyosis, congenital, nonblistering" EXACT []
synonym: "Nonbullous congenital ichthyosiform erythroderma" EXACT []
synonym: "Nonbullous congenital ichthyosis" EXACT []
xref: MSH:D017490
xref: SNOMEDCT_US:205550003
xref: SNOMEDCT_US:267372009
xref: SNOMEDCT_US:268245001
xref: UMLS:C0079154
is_a: HP:0007431 ! Congenital ichthyosiform erythroderma

[Term]
id: HP:0007480
name: Decreased sweating due to autonomic dysfunction
xref: UMLS:C1868527
is_a: HP:0000966 ! Hypohidrosis

[Term]
id: HP:0007481
name: Hyperpigmented nevi
xref: UMLS:C0746889
is_a: HP:0000995 ! Melanocytic nevus

[Term]
id: HP:0007482
name: Generalized papillary lesions
xref: UMLS:C4024865
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0007483
name: Depigmentation/hyperpigmentation of skin
xref: UMLS:C4024864
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007485
name: Absence of subcutaneous fat
def: "Lack of subcutaneous adipose tissue." [HPO:probinson]
synonym: "Absent fat below the skin" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "General absence of subcutaneous fat" EXACT []
xref: UMLS:C0241267
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0007486
name: Cavernous hemangioma of the face
xref: NCIT:C3086
xref: UMLS:C1332863
is_a: HP:0001048 ! Cavernous hemangioma

[Term]
id: HP:0007488
name: Diffuse skin atrophy
xref: UMLS:C4024863
is_a: HP:0004334 ! Dermal atrophy

[Term]
id: HP:0007489
name: Diffuse telangiectasia
alt_id: HP:0007405
def: "Telangiectases (small dilated blood vessels) with a diffuse localization." [HPO:curators]
synonym: "Diffuse telangiectases" EXACT []
synonym: "Telangiectases, random body distribution" EXACT []
xref: SNOMEDCT_US:125279001
xref: UMLS:C1265776
is_a: HP:0001009 ! Telangiectasia

[Term]
id: HP:0007490
name: Linear arrays of macular hyperkeratoses in flexural areas
xref: UMLS:C1866031
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007494
name: Discrete 2 to 5-mm hyper- and hypopigmented macules
xref: UMLS:C1851552
is_a: HP:0007441 ! Hyperpigmented/hypopigmented macules

[Term]
id: HP:0007495
name: Prematurely aged appearance
alt_id: HP:0001599
synonym: "Precociously senile appearance" EXACT layperson []
synonym: "Prematurely aged appearance" EXACT layperson []
xref: UMLS:C1857656
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0007497
name: Focal friction-related palmoplantar hyperkeratosis
def: "Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction." [HPO:probinson]
synonym: "Hyperkeratosis, palmoplantar, focal friction-related" EXACT []
xref: UMLS:C1835654
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007499
name: Recurrent staphylococcal infections
def: "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections." [ORCID:0000-0001-7941-2961]
synonym: "Recurrent staphylococcal infections" EXACT layperson []
xref: UMLS:C4024862
is_a: HP:0002718 ! Recurrent bacterial infections

[Term]
id: HP:0007500
name: Decreased number of sweat glands
alt_id: HP:0007555
alt_id: HP:0007594
def: "The presence of fewer than normal sweat glands." [HPO:probinson]
synonym: "Decreased sweat glands" EXACT layperson []
synonym: "Decreased sweat pores" EXACT layperson []
xref: UMLS:C4021574
is_a: HP:0000971 ! Abnormal sweat gland morphology

[Term]
id: HP:0007501
name: Streaks of hyperkeratosis along each finger onto the palm
xref: UMLS:C4024861
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007502
name: Follicular hyperkeratosis
alt_id: HP:0007600
def: "A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum." [HPO:probinson]
subset: hposlim_core
synonym: "Hyperkeratosis follicularis" EXACT []
xref: SNOMEDCT_US:238629004
xref: SNOMEDCT_US:402341008
xref: SNOMEDCT_US:81845009
xref: UMLS:C0334013
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007503
name: Generalized ichthyosis
xref: UMLS:C3552528
is_a: HP:0008064 ! Ichthyosis

[Term]
id: HP:0007504
name: Diffuse slow skin atrophy
xref: UMLS:C4024860
is_a: HP:0007488 ! Diffuse skin atrophy

[Term]
id: HP:0007505
name: Progressive hyperpigmentation
xref: UMLS:C4024859
is_a: HP:0000953 ! Hyperpigmentation of the skin

[Term]
id: HP:0007506
name: Congenital absence of skin of limbs
synonym: "Missing skin on limbs since birth" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024858
is_a: HP:0007383 ! Congenital localized absence of skin

[Term]
id: HP:0007508
name: Punctate palmar hyperkeratosis
def: "Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands." []
xref: UMLS:C4024857
is_a: HP:0010765 ! Palmar hyperkeratosis

[Term]
id: HP:0007509
name: Patchy hypo- and hyperpigmentation
alt_id: HP:0007487
synonym: "Patchy hypo- and hyper-pigmentation" EXACT []
xref: UMLS:C4021573
is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin

[Term]
id: HP:0007510
name: Focal dermal aplasia/hypoplasia
xref: UMLS:C1834069
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007511
name: Mottled pigmentation of photoexposed areas
xref: UMLS:C3151964
is_a: HP:0001070 ! Mottled pigmentation

[Term]
id: HP:0007513
name: Generalized hypopigmentation
alt_id: HP:0000984
alt_id: HP:0007419
subset: hposlim_core
synonym: "Fair skin" EXACT layperson []
synonym: "Pale pigmentation" EXACT layperson []
xref: UMLS:C1849923
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007514
name: Edema of the dorsum of hands
alt_id: HP:0007528
def: "An abnormal accumulation of fluid beneath the skin on the back of the hands." [HPO:probinson]
synonym: "Edema of dorsum of hands" EXACT []
xref: MEDDRA:10058204 "Oedema hands"
xref: SNOMEDCT_US:443710002
xref: UMLS:C2732374
xref: UMLS:C2751873
is_a: HP:0000969 ! Edema

[Term]
id: HP:0007515
name: Hypoplastic pilosebaceous units
xref: UMLS:C1832454
is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin

[Term]
id: HP:0007516
name: Redundant skin on fingers
def: "Loose and sagging skin of the fingers." [HPO:probinson]
synonym: "Extra skin on fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024856
is_a: HP:0001582 ! Redundant skin

[Term]
id: HP:0007517
name: Palmoplantar cutis laxa
alt_id: HP:0001016
def: "Loose, wrinkled skin of hands and feet." [HPO:probinson]
synonym: "Excessive wrinkled skin of palms and soles" EXACT layperson []
synonym: "Furrowed palms and soles" EXACT []
synonym: "Increased wrinkles of palms and soles" EXACT layperson []
synonym: "Wrinkled palms and soles" EXACT layperson []
synonym: "Wrinkled skin of hands and feet" EXACT layperson []
xref: UMLS:C1856714
is_a: HP:0000973 ! Cutis laxa
is_a: HP:0007605 ! Excessive wrinkling of palmar skin
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007519
name: Lack of subcutaneous fatty tissue
synonym: "Lack of fatty tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024855
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0007521
name: Irregular hyperpigmentation of back
xref: UMLS:C4024854
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007522
name: Increased number of skin folds
synonym: "Increased number of skin folds" EXACT layperson []
xref: UMLS:C4024853
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin

[Term]
id: HP:0007524
name: Atypical neurofibromatosis
xref: MSH:C537392
xref: UMLS:C0220695
is_a: HP:0001067 ! Neurofibromas

[Term]
id: HP:0007525
name: Yellow subcutaneous tissue covered by thin, scaly skin
xref: UMLS:C1850533
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue

[Term]
id: HP:0007526
name: Hypopigmented skin patches on arms
synonym: "Hypopigmented skin patches on arms" EXACT []
synonym: "Patchy loss of skin color on arms" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4024852
is_a: HP:0001053 ! Hypopigmented skin patches

[Term]
id: HP:0007529
name: Hidrotic ectodermal dysplasia
xref: MSH:D004476
xref: SNOMEDCT_US:54209007
xref: UMLS:C0162361
is_a: HP:0000968 ! Ectodermal dysplasia

[Term]
id: HP:0007530
name: Punctate palmoplantar hyperkeratosis
xref: UMLS:C4024851
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007534
name: Congenital posterior occipital alopecia
def: "Loss of hair in the occipital region of the scalp with congenital onset." [HPO:probinson]
xref: UMLS:C4024850
is_a: HP:0011361 ! Congenital abnormal hair pattern

[Term]
id: HP:0007535
name: Hypopigmented streaks
xref: UMLS:C1866244
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007536
name: Aplasia cutis congenita of midline scalp vertex
xref: UMLS:C4024849
is_a: HP:0004471 ! Aplasia cutis congenita over the scalp vertex

[Term]
id: HP:0007537
name: Severe photosensitivity
def: "A severe degree of photosensitivity of the skin." [HPO:curators]
synonym: "Severe sun sensitivity" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849186
is_a: HP:0000992 ! Cutaneous photosensitivity

[Term]
id: HP:0007541
name: Frontal cutaneous lipoma
def: "Presence of a cutaneous lipoma on the forehead." [HPO:probinson]
xref: NCIT:C3192
xref: UMLS:C1850970
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0012032 ! Lipoma

[Term]
id: HP:0007542
name: Absent pigmentation of the ventral chest
def: "Lack of skin pigmentation (coloring) of the anterior chest." [HPO:probinson]
xref: UMLS:C4024848
is_a: HP:0040007 ! Absent pigmentation of chest

[Term]
id: HP:0007543
name: Epidermal hyperkeratosis
synonym: "Increased thickness of skin epidermis" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1848773
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007544
name: Piebaldism
def: "Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution." [HPO:probinson]
xref: MSH:D016116
xref: SNOMEDCT_US:6479008
xref: SNOMEDCT_US:718122005
xref: UMLS:C0080024
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007545
name: Congenital palmoplantar keratosis
xref: UMLS:C1855633
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007546
name: Linear hyperpigmentation
xref: UMLS:C3278658
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007548
name: Palmoplantar keratosis with erythema and scale
xref: UMLS:C1843294
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007549
name: Desquamation of skin soon after birth
xref: UMLS:C1842714
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0007550
name: Hypohidrosis or hyperhidrosis
synonym: "Lack of sweating or excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021831
is_a: HP:0025276 ! Abnormality of skin adnexa physiology

[Term]
id: HP:0007552
name: Abnormal subcutaneous fat tissue distribution
synonym: "Abnormal fat tissue distribution below the skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859347
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue

[Term]
id: HP:0007553
name: Congenital symmetrical palmoplantar keratosis
xref: UMLS:C1855459
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007554
name: Confetti hypopigmentation pattern of lower leg skin
synonym: "Confetti hypopigmentation pattern of lower leg skin" EXACT layperson []
xref: UMLS:C4024847
is_a: HP:0001010 ! Hypopigmentation of the skin

[Term]
id: HP:0007556
name: Plantar hyperkeratosis
alt_id: HP:0007382
alt_id: HP:0007445
def: "Hyperkeratosis affecting the sole of the foot." [HPO:probinson]
synonym: "Plantar hyperkeratoses" EXACT []
xref: UMLS:C1856954
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0007559
name: Localized epidermolytic hyperkeratosis
xref: MSH:D053546
xref: UMLS:C1721006
is_a: HP:0008064 ! Ichthyosis

[Term]
id: HP:0007560
name: Unusual dermatoglyphics
xref: UMLS:C4024846
is_a: HP:0005882 ! Dermatoglyphic variants

[Term]
id: HP:0007561
name: Telangiectases in sun-exposed and nonexposed skin
xref: UMLS:C1868184
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0007565
name: Multiple cafe-au-lait spots
alt_id: HP:0007416
def: "The presence of six or more cafe-au-lait spots." [DDD:cmoss]
synonym: "Multiple birthmarks" BROAD layperson []
synonym: "Multiple flat light-brown marks on skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:C537421
xref: UMLS:C1861975
is_a: HP:0000957 ! Cafe-au-lait spot

[Term]
id: HP:0007566
name: Index finger dermatoglyphic radial loop
xref: UMLS:C4024845
is_a: HP:0005882 ! Dermatoglyphic variants

[Term]
id: HP:0007569
name: Generalized seborrheic dermatitis
def: "Seborrheic dermatitis that is not localized to any one particular region." []
synonym: "Generalized seborrheic eczema" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024844
is_a: HP:0001051 ! Seborrheic dermatitis

[Term]
id: HP:0007570
name: Hyperkeratosis lenticularis perstans
def: "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa." [HPO:probinson]
synonym: "Flegel disease" RELATED []
xref: MSH:C538377
xref: SNOMEDCT_US:28488007
xref: UMLS:C0263420
is_a: HP:0000962 ! Hyperkeratosis

[Term]
id: HP:0007572
name: Hyperpigmented streaks
xref: UMLS:C1866245
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007573
name: Late onset atopic dermatitis
def: "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis." [PMID:23984225, PMID:27904186]
synonym: "Late onset baby eczema" RELATED layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024843
xref: UMLS:C4280439
is_a: HP:0001047 ! Atopic dermatitis

[Term]
id: HP:0007574
name: Generalized bronze hyperpigmentation
synonym: "Bronze skin" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2939074
xref: UMLS:C4024842
is_a: HP:0007440 ! Generalized hyperpigmentation

[Term]
id: HP:0007576
name: Palmar neurofibromas
xref: UMLS:C4024841
is_a: HP:0001067 ! Neurofibromas
is_a: HP:0045010 ! Abnormality of peripheral nerves
is_a: HP:0100871 ! Abnormality of the palm

[Term]
id: HP:0007581
name: Mediosternal, longitudinal streak of hypopigmentation
xref: UMLS:C4024840
is_a: HP:0007535 ! Hypopigmented streaks

[Term]
id: HP:0007583
name: Telangiectasia macularis eruptiva perstans
xref: SNOMEDCT_US:8214000
xref: UMLS:C0263402
is_a: HP:0001009 ! Telangiectasia

[Term]
id: HP:0007585
name: Skin fragility with non-scarring blistering
xref: UMLS:C1851562
is_a: HP:0001030 ! Fragile skin

[Term]
id: HP:0007586
name: Telangiectases producing 'marbled' skin
xref: UMLS:C4024839
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0007587
name: Numerous pigmented freckles
synonym: "Numerous pigmented freckles" EXACT layperson []
xref: UMLS:C1968565
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007588
name: Reticular hyperpigmentation
alt_id: HP:0007579
def: "Increased pigmentation of the skin with a netlike (reticular) pattern." [HPO:probinson]
synonym: "Reticulate hyperpigmentation" EXACT []
xref: UMLS:C1851972
is_a: HP:0007400 ! Irregular hyperpigmentation

[Term]
id: HP:0007589
name: Aplasia cutis congenita on trunk or limbs
def: "A developmental defect resulting in the congenital absence of skin on the trunk or the limbs." [HPO:curators]
comment: In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs.
xref: UMLS:C1863496
is_a: HP:0001057 ! Aplasia cutis congenita

[Term]
id: HP:0007590
name: Aplasia cutis congenita over posterior parietal area
xref: UMLS:C1863495
is_a: HP:0004476 ! Aplasia cutis congenita over parietal area

[Term]
id: HP:0007592
name: Aplasia/Hypoplastia of the eccrine sweat glands
def: "Absence or developmental hypoplasia of the eccrine sweat glands." [HPO:probinson]
synonym: "Hypoplastic-absent eccrine sweat glands" EXACT []
xref: UMLS:C1844618
is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands

[Term]
id: HP:0007595
name: Redundant skin in infancy
synonym: "Excess skin in infancy" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1835587
is_a: HP:0001582 ! Redundant skin

[Term]
id: HP:0007596
name: Painful subcutaneous lipomas
def: "The presence of multiple subcutaneous lipoma that cause pain." [HPO:probinson]
synonym: "Painful noncancerous fat tissue tumor under the skin" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C4024838
is_a: HP:0001031 ! Subcutaneous lipoma

[Term]
id: HP:0007597
name: Congenital palmoplantar keratodermia
xref: UMLS:C4024837
is_a: HP:0000982 ! Palmoplantar keratoderma

[Term]
id: HP:0007598
name: Bilateral single transverse palmar creases
def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands." [HPO:probinson]
xref: UMLS:C1862095
is_a: HP:0000954 ! Single transverse palmar crease

[Term]
id: HP:0007599
name: Generalized reticulate brown pigmentation
xref: UMLS:C4024836
is_a: HP:0007440 ! Generalized hyperpigmentation

[Term]
id: HP:0007601
name: Midline facial capillary hemangioma
xref: UMLS:C1840310
is_a: HP:0000996 ! Facial capillary hemangioma

[Term]
id: HP:0007602
name: Complex palmar dermatoglyphic pattern
xref: UMLS:C4024835
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0007603
name: Freckles in sun-exposed areas
synonym: "Freckles in sun-exposed areas" EXACT layperson []
xref: UMLS:C1859923
is_a: HP:0005586 ! Hyperpigmentation in sun-exposed areas

[Term]
id: HP:0007605
name: Excessive wrinkling of palmar skin
alt_id: HP:0007531
synonym: "Redundant, wrinkled skin of palms" EXACT layperson []
xref: UMLS:C4021572
is_a: HP:0007392 ! Excessive wrinkled skin
is_a: HP:0040211 ! Abnormality of the skin of the palm

[Term]
id: HP:0007606
name: Multiple cutaneous malignancies
xref: UMLS:C4024834
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0007607
name: Hypohidrotic ectodermal dysplasia
xref: MSH:D053358
xref: SNOMEDCT_US:239007005
xref: SNOMEDCT_US:7731005
xref: UMLS:C0162359
is_a: HP:0000968 ! Ectodermal dysplasia

[Term]
id: HP:0007608
name: Abnormal palmar dermal ridges
xref: UMLS:C4024833
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics

[Term]
id: HP:0007609
name: Hypoproteinemic edema
def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia)." [HPO:curators]
xref: UMLS:C4024832
is_a: HP:0000969 ! Edema

[Term]
id: HP:0007610
name: Blotching pigmentation of the skin
xref: UMLS:C4024831
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007613
name: Spinous keratoses of palms and soles
xref: UMLS:C4024830
is_a: HP:0000972 ! Palmoplantar hyperkeratosis

[Term]
id: HP:0007616
name: Nevus flammeus nuchae
def: "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." [HPO:sdoelken]
comment: The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area.
synonym: "Angel's kiss" RELATED layperson [ORCID:0000-0001-6908-9849]
synonym: "Port-wine stain on neck" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Salmon patch" RELATED layperson [ORCID:0000-0001-6908-9849]
synonym: "Stork bite" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C0860468
xref: UMLS:C4024829
xref: UMLS:C4280438
is_a: HP:0001052 ! Nevus flammeus

[Term]
id: HP:0007617
name: Fine, reticulate skin pigmentation
xref: UMLS:C4024828
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007618
name: Subcutaneous calcification
def: "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument)." [HPO:probinson]
subset: hposlim_core
synonym: "Skin calcification" EXACT layperson []
xref: SNOMEDCT_US:17141001
xref: UMLS:C0263625
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0011354 ! Generalized abnormality of skin

[Term]
id: HP:0007620
name: Cutaneous leiomyoma
alt_id: HP:0007507
def: "The presence of leiomyoma of the skin." [HPO:probinson]
comment: Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin.
synonym: "Cutaneous leiomyomas" EXACT []
synonym: "Cutaneous leiomyomata" EXACT []
xref: NCIT:C3157
xref: SNOMEDCT_US:254767008
xref: UMLS:C0346064
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0007621
name: Telangiectasia of extensor surfaces
xref: UMLS:C4024827
is_a: HP:0100585 ! Telangiectasia of the skin

[Term]
id: HP:0007623
name: Pigmentation anomalies of sun-exposed skin
synonym: "Abnormal pigmentation in sun-exposed skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024826
is_a: HP:0001000 ! Abnormality of skin pigmentation

[Term]
id: HP:0007626
name: Mandibular osteomyelitis
alt_id: HP:0005869
def: "Osteomyelitis of the lower jaw." []
synonym: "Lower jaw bone infection" EXACT layperson []
synonym: "Osteomyelitis, especially of the mandible" EXACT []
xref: SNOMEDCT_US:109695005
xref: UMLS:C1290708
is_a: HP:0000277 ! Abnormality of the mandible
is_a: HP:0002754 ! Osteomyelitis

[Term]
id: HP:0007627
name: Mandibular condyle aplasia
synonym: "Absence of the condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Absence of the condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Absence of the condylar process of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of condylar head of mandible" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of condylar neck of mandible" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of condylar process of mandible" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of the condylar process of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:235119009
xref: UMLS:C0399570
xref: UMLS:C4280429
xref: UMLS:C4280430
xref: UMLS:C4280431
xref: UMLS:C4280432
xref: UMLS:C4280433
xref: UMLS:C4280434
xref: UMLS:C4280435
xref: UMLS:C4280436
xref: UMLS:C4280437
is_a: HP:0005790 ! Short mandibular condyles

[Term]
id: HP:0007628
name: Mandibular condyle hypoplasia
synonym: "Decreased size of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of mandibular condyle" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of mandibular condyle" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of subcondylar region of mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic condylar process of mandible" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic mandibular condyle" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Small condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Small mandibular condyle" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:235120003
xref: UMLS:C0399572
xref: UMLS:C4280423
xref: UMLS:C4280424
xref: UMLS:C4280425
xref: UMLS:C4280426
xref: UMLS:C4280427
xref: UMLS:C4280428
is_a: HP:0005790 ! Short mandibular condyles

[Term]
id: HP:0007633
name: Bilateral microphthalmos
alt_id: HP:0001143
alt_id: HP:0001585
def: "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators]
synonym: "Abnormally small eyeball on both sides" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Bilateral nanophthalmos" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of eyeballs" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of globes of eyes" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Microphthalmia, bilateral" EXACT []
xref: UMLS:C1843496
xref: UMLS:C4280421
xref: UMLS:C4280422
is_a: HP:0000568 ! Microphthalmia

[Term]
id: HP:0007634
name: Nonarteritic anterior ischemic optic neuropathy
def: "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates." [HPO:probinson, pmid:17698200]
comment: Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling.
xref: UMLS:C1852242
is_a: HP:0001138 ! Optic neuropathy

[Term]
id: HP:0007641
name: Dyschromatopsia
def: "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments." [DDD:ncarter]
synonym: "Color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: UMLS:C0858618
is_a: HP:0000551 ! Color vision defect

[Term]
id: HP:0007642
name: Congenital stationary night blindness
alt_id: HP:0007684
alt_id: HP:0007861
alt_id: HP:0007953
def: "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset." [HPO:probinson]
comment: Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors.
synonym: "Congenital night blindness" EXACT []
synonym: "Night blindness since birth" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Night blindness, congenital" RELATED [HPO:skoehler]
synonym: "Night blindness, congenital stationary" RELATED [HPO:skoehler]
synonym: "Night blindness, congenital stationary, complete" RELATED [HPO:skoehler]
synonym: "Night blindness, stationary" RELATED [HPO:skoehler]
synonym: "Static congenital hemeralopia" EXACT []
xref: MSH:C536122
xref: MSH:C537743
xref: SNOMEDCT_US:193687000
xref: SNOMEDCT_US:232061009
xref: UMLS:C0339535
xref: UMLS:C1306122
xref: UMLS:C3551052
xref: UMLS:C4048798
is_a: HP:0000556 ! Retinal dystrophy
is_a: HP:0000662 ! Nyctalopia

[Term]
id: HP:0007643
name: Peripheral tractional retinal detachment
def: "Tractional retinal detachment at the periphery of the retina." []
synonym: "Peripheral traction retinal detachment" EXACT []
synonym: "Tractional retinal detachment at the periphery of the retina" EXACT []
xref: UMLS:C4024825
is_a: HP:0007917 ! Tractional retinal detachment

[Term]
id: HP:0007646
name: Absent lower eyelashes
def: "Lack of eyelashes on the lower lid." [HPO:probinson]
synonym: "Absent lower eyelashes" EXACT layperson []
synonym: "Agenesis of lower eyelashes" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of lower eyelashes" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Atrichia of lower eyelashes" EXACT []
synonym: "Failure of development of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024824
is_a: HP:0000561 ! Absent eyelashes

[Term]
id: HP:0007647
name: Congenital extraocular muscle anomaly
def: "Congenital abnormality of the extraocular muscles." [HPO:probinson]
xref: UMLS:C4024823
is_a: HP:0008049 ! Abnormality of the extraocular muscles

[Term]
id: HP:0007648
name: Punctate cataract
def: "A type of cataract with punctate opacities of the lens." [HPO:probinson]
synonym: "Punctate lenticular opacities" RELATED []
xref: SNOMEDCT_US:40714009
xref: UMLS:C0271165
xref: UMLS:C1969675
is_a: HP:0010920 ! Zonular cataract

[Term]
id: HP:0007649
name: Congenital hypertrophy of retinal pigment epithelium
def: "Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium." [DDD:ncarter]
comment: This feature is found in around 3-5% of the population and is of no functional significance.
xref: SNOMEDCT_US:232074003
xref: UMLS:C0339555
is_a: HP:0011512 ! Hyperpigmentation of the fundus

[Term]
id: HP:0007650
name: Progressive ophthalmoplegia
xref: UMLS:C2062713
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0007651
name: Ectropion of lower eyelids
synonym: "Everted lower eyelids" RELATED []
synonym: "Lower eyelid folded out" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Lower eyelid turned out" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:95758006
xref: UMLS:C0521736
xref: UMLS:C4020808
is_a: HP:0000656 ! Ectropion

[Term]
id: HP:0007654
name: obsolete Retinal striation
is_obsolete: true

[Term]
id: HP:0007655
name: Eversion of lateral third of lower eyelids
xref: UMLS:C1835801
is_a: HP:0000656 ! Ectropion

[Term]
id: HP:0007656
name: Lacrimal gland aplasia
def: "A congenital defect of development characterized by absence of the lacrimal gland." [HPO:probinson]
synonym: "Absent tear gland" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024822
is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands

[Term]
id: HP:0007657
name: Diffuse nuclear cataract
def: "Opacity of the entire lens nucleus." [HPO:probinson]
xref: UMLS:C4024821
is_a: HP:0100018 ! Nuclear cataract

[Term]
id: HP:0007658
name: Large hyperpigmented retinal spots
xref: UMLS:C4024820
is_a: HP:0011512 ! Hyperpigmentation of the fundus

[Term]
id: HP:0007659
name: obsolete Decreased retinal pigmentation with dispersion
is_obsolete: true
consider: HP:0007703

[Term]
id: HP:0007661
name: Abnormality of chorioretinal pigmentation
xref: UMLS:C4024819
is_a: HP:0000532 ! Abnormal chorioretinal morphology

[Term]
id: HP:0007663
name: Reduced visual acuity
alt_id: HP:0001091
alt_id: HP:0007693
alt_id: HP:0007739
alt_id: HP:0007969
alt_id: HP:0008008
synonym: "Decreased central vision" EXACT []
synonym: "Decreased clarity of vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Decreased visual acuity" EXACT []
synonym: "Poor visual acuity" EXACT []
xref: SNOMEDCT_US:13164000
xref: UMLS:C0234632
is_a: HP:0000505 ! Visual impairment

[Term]
id: HP:0007665
name: Curly eyelashes
def: "Abnormally curly or curved eyelashes." [HPO:curators]
subset: hposlim_core
synonym: "Curly eyelashes" EXACT layperson []
xref: UMLS:C2673670
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0007667
name: Peripheral cystoid retinal degeneration
def: "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly." [ORCID:0000-0003-0986-4123]
synonym: "Cystic retinal degeneration" EXACT []
synonym: "Peripheral cystoid degeneration" EXACT []
xref: UMLS:C1839362
is_a: HP:0007769 ! Peripheral retinal degeneration

[Term]
id: HP:0007668
name: Impaired pursuit initiation and maintenance
xref: UMLS:C1969722
is_a: HP:0000617 ! Abnormality of ocular smooth pursuit

[Term]
id: HP:0007670
name: Abnormal vestibulo-ocular reflex
def: "An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude." [HPO:probinson, pmid:3625219]
synonym: "Abnormal vestibuloocular reflex" EXACT []
xref: UMLS:C4021571
is_a: HP:0001751 ! Vestibular dysfunction

[Term]
id: HP:0007675
name: Progressive night blindness
synonym: "Progressive night blindness" EXACT layperson []
xref: UMLS:C4024818
is_a: HP:0000662 ! Nyctalopia

[Term]
id: HP:0007676
name: Hypoplasia of the iris
alt_id: HP:0000638
alt_id: HP:0007724
alt_id: HP:0007998
def: "Congenital underdevelopment of the iris." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic iris" EXACT []
synonym: "Iris hypoplasia" EXACT []
synonym: "Underdeveloped iris" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:95714006
xref: UMLS:C0344539
is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris

[Term]
id: HP:0007677
name: Vitelliform-like macular lesions
alt_id: HP:0007878
def: "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula." [DDD:gblack, pmid:18289629]
synonym: "Vitelliform macular dystrophy" RELATED []
synonym: "Vitelliform macular lesions" EXACT []
xref: MSH:D057826
xref: SNOMEDCT_US:90036004
xref: UMLS:C0339510
xref: UMLS:C4024817
is_a: HP:0030500 ! Yellow/white lesions of the macula

[Term]
id: HP:0007678
name: Lacrimal duct stenosis
alt_id: HP:0007669
def: "Narrowing of a tear duct (lacrimal duct)." [HPO:probinson]
synonym: "Narrowing of the tear duct" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Nasolacrimal duct stenosis" EXACT []
xref: SNOMEDCT_US:231841004
xref: UMLS:C0238300
is_a: HP:0000579 ! Nasolacrimal duct obstruction

[Term]
id: HP:0007680
name: Depigmented fundus
xref: UMLS:C4024816
is_a: HP:0007894 ! Hypopigmentation of the fundus

[Term]
id: HP:0007685
name: Peripheral retinal avascularization
xref: UMLS:C1851406
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007686
name: Abnormal pupillary function
def: "A functional abnormality of the pupil." [HPO:probinson]
comment: It is preferable to describe the functional defect precisely.
xref: MSH:D011681
xref: SNOMEDCT_US:72124005
xref: UMLS:C0917967
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0007687
name: Unilateral ptosis
def: "A unilateral form of ptosis." [HPO:probinson]
synonym: "Dropping of one upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1866806
is_a: HP:0000508 ! Ptosis

[Term]
id: HP:0007688
name: Undetectable light- and dark-adapted electroretinogram
alt_id: HP:0003230
alt_id: HP:0008280
def: "Absence of the combined rod-and-code response on electroretinogram." [HPO:probinson]
synonym: "Absent cone and rod functions by electroretinogram" EXACT []
synonym: "Absent rod-and cone-mediated responses on ERG" EXACT []
xref: UMLS:C4021570
is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram

[Term]
id: HP:0007690
name: Map-dot-fingerprint corneal dystrophy
xref: SNOMEDCT_US:32935005
xref: UMLS:C0271285
is_a: HP:0200020 ! Corneal erosion

[Term]
id: HP:0007691
name: obsolete Short curly eyelashes
is_obsolete: true
consider: HP:0007665
consider: HP:0010764

[Term]
id: HP:0007692
name: obsolete Nonnuclear polymorphic congenital cataract
is_obsolete: true
replaced_by: HP:0000519

[Term]
id: HP:0007695
name: Abnormal pupillary light reflex
def: "An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye." [HPO:probinson]
xref: UMLS:C1970591
is_a: HP:0007686 ! Abnormal pupillary function

[Term]
id: HP:0007697
name: Hypoplasia of the lower eyelids
def: "Underdevelopment of the lower eyelid." [HPO:probinson]
synonym: "Decreased size of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic lower eyelid" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Short lower eyelid" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Small lower eyelid" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024814
xref: UMLS:C4280270
xref: UMLS:C4280420
is_a: HP:0430009 ! Hypoplasia of eyelid

[Term]
id: HP:0007698
name: obsolete Retinal pigment epithelial atrophy
is_obsolete: true

[Term]
id: HP:0007700
name: Ocular anterior segment dysgenesis
alt_id: HP:0007696
alt_id: HP:0007699
alt_id: HP:0008040
def: "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin." [DDD:ncarter]
comment: In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures.
synonym: "Anterior chamber cleavage defect" EXACT []
synonym: "Anterior chamber cleavage disorder" EXACT []
synonym: "Anterior chamber malformation" EXACT []
synonym: "Anterior chamber mesodermal anomalies" EXACT []
synonym: "Anterior segment developmental abnormality" EXACT []
synonym: "Anterior segment dysgenesis" EXACT []
synonym: "Anterior segment mesencyhmal dysgenesis" EXACT []
synonym: "Anterior segment ocular dysgenesis" EXACT []
xref: SNOMEDCT_US:65075004
xref: UMLS:C0266525
is_a: HP:0004328 ! Abnormal anterior eye segment morphology

[Term]
id: HP:0007702
name: obsolete Pigmentary retinal deposits
is_obsolete: true
replaced_by: HP:0000580

[Term]
id: HP:0007703
name: Abnormality of retinal pigmentation
alt_id: HP:0007741
alt_id: HP:0007743
alt_id: HP:0008051
synonym: "Abnormal retinal pigmentation" EXACT []
synonym: "Abnormality of retinal pigment epithelium" EXACT []
synonym: "Abnormality of RPE" EXACT []
synonym: "Abnormality of the retinal pigment epithelium" RELATED []
synonym: "Retinal pigmentary anomaly" EXACT []
xref: SNOMEDCT_US:421689001
xref: UMLS:C1720508
xref: UMLS:C1862475
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0007704
name: Paroxysmal involuntary eye movements
def: "Sudden-onset episode of abnormal, involuntary eye movements." [HPO:probinson]
synonym: "Abnormal eye movements, paroxysmal" EXACT []
xref: UMLS:C1847515
is_a: HP:0012547 ! Abnormal involuntary eye movements

[Term]
id: HP:0007705
name: Corneal degeneration
xref: SNOMEDCT_US:111521006
xref: UMLS:C0155118
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0007707
name: Congenital aphakia
def: "Absence of the crystalline lens of the eye as a result of a developmental defect." [HPO:probinson]
synonym: "Lens agenesis" EXACT []
xref: MSH:C537786
xref: UMLS:C1853230
is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens

[Term]
id: HP:0007708
name: Absent inner eyelashes
synonym: "Absent inner eyelashes" EXACT layperson []
xref: UMLS:C4024812
is_a: HP:0000561 ! Absent eyelashes

[Term]
id: HP:0007709
name: Band-shaped corneal dystrophy
xref: MSH:C562399
xref: SNOMEDCT_US:35055000
xref: UMLS:C0155120
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007710
name: Peripheral vitreous opacities
xref: UMLS:C4024811
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0007712
name: obsolete Choroidal dystrophy
is_obsolete: true
consider: HP:0001135

[Term]
id: HP:0007713
name: obsolete Juvenile zonular cataracts
is_obsolete: true
replaced_by: HP:0010920

[Term]
id: HP:0007715
name: Weak extraocular muscles
xref: UMLS:C1859436
is_a: HP:0000597 ! Ophthalmoparesis

[Term]
id: HP:0007716
name: Uveal melanoma
def: "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [HPO:curators]
comment: WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid.
synonym: "Intraocular melanoma" EXACT []
xref: MSH:C536494
xref: NCIT:C3224
xref: UMLS:C0220633
is_a: HP:0002861 ! Melanoma
is_a: HP:0100012 ! Neoplasm of the eye

[Term]
id: HP:0007717
name: Chronic irritative conjunctivitis
def: "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes." [HPO:curators]
xref: UMLS:C4024810
is_a: HP:0000509 ! Conjunctivitis

[Term]
id: HP:0007720
name: Flat cornea
def: "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age." [HPO:probinson]
synonym: "Cornea plana" EXACT []
xref: SNOMEDCT_US:204145006
xref: UMLS:C0344529
is_a: HP:0100691 ! Abnormality of the curvature of the cornea

[Term]
id: HP:0007721
name: Saccular conjunctival dilatations
def: "Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva." [HPO:probinson]
synonym: "Saccular conjunctival aneurysms" NARROW []
xref: UMLS:C3277464
is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature

[Term]
id: HP:0007722
name: Retinal pigment epithelial atrophy
alt_id: HP:0007698
alt_id: HP:0008017
def: "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging." [HPO:probinson]
xref: UMLS:C1840457
is_a: HP:0001105 ! Retinal atrophy

[Term]
id: HP:0007727
name: Opacification of the corneal epithelium
def: "Lack of transparency of the corneal epithelium." [DDD:gblack]
synonym: "Superficial corneal opacities" EXACT []
xref: UMLS:C1849198
is_a: HP:0007957 ! Corneal opacity

[Term]
id: HP:0007728
name: Congenital miosis
def: "Abnormal (non-physiological) constriction of the pupil of congenital onset." [HPO:probinson]
xref: MSH:C537550
xref: SNOMEDCT_US:400962005
xref: UMLS:C1303009
is_a: HP:0000616 ! Miosis

[Term]
id: HP:0007730
name: Iris hypopigmentation
def: "An abnormal reduction in the amount of pigmentation of the iris." [HPO:probinson]
synonym: "Light eye color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Reduced iris pigmentation" EXACT []
xref: SNOMEDCT_US:247032003
xref: SNOMEDCT_US:70397008
xref: UMLS:C0154920
is_a: HP:0008034 ! Abnormal iris pigmentation

[Term]
id: HP:0007731
name: Chorioretinal dysplasia
def: "Abnormal development of the choroid and retina." [HPO:probinson]
xref: UMLS:C4024809
is_a: HP:0000532 ! Abnormal chorioretinal morphology

[Term]
id: HP:0007732
name: Lacrimal gland hypoplasia
def: "Underdevelopment of the lacrimal gland." [HPO:probinson]
synonym: "Hypoplastic lacrimal gland" EXACT []
synonym: "Underdeveloped tear gland" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1863200
is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands

[Term]
id: HP:0007733
name: Laterally curved eyebrow
xref: UMLS:C1846266
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0007734
name: Enlarged lacrimal glands
def: "Abnormally big lacrimal glands." [HPO:probinson]
synonym: "Enlarged tear gland" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1867030
is_a: HP:0011482 ! Abnormal lacrimal gland morphology

[Term]
id: HP:0007736
name: obsolete Pericentral retinal dystrophy
is_obsolete: true

[Term]
id: HP:0007737
name: Bone spicule pigmentation of the retina
alt_id: HP:0007644
alt_id: HP:0007683
alt_id: HP:0007823
def: "Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone)." [HPO:probinson]
synonym: "Bone corpuscle fundus pigmentation" EXACT []
synonym: "Fundus with peripheral bony spicules" EXACT []
synonym: "Retinal 'bone corpuscle' pigmentation" RELATED [HPO:skoehler]
synonym: "Retinal bone corpuscle pigmentation" EXACT []
synonym: "Retinal pigmented bone spicules" EXACT []
xref: UMLS:C1836926
is_a: HP:0000580 ! Pigmentary retinopathy

[Term]
id: HP:0007738
name: Uncontrolled eye movements
xref: UMLS:C1854686
is_a: HP:0012547 ! Abnormal involuntary eye movements

[Term]
id: HP:0007739
name: obsolete Mildly reduced visual acuity
is_obsolete: true
replaced_by: HP:0007663

[Term]
id: HP:0007740
name: Long eyelashes in irregular rows
synonym: "Long eyelashes in irregular rows" EXACT layperson []
xref: UMLS:C1850640
is_a: HP:0000527 ! Long eyelashes

[Term]
id: HP:0007744
name: obsolete Iridoretinal coloboma
is_obsolete: true
consider: HP:0000612

[Term]
id: HP:0007747
name: Monocular horizontal nystagmus
xref: UMLS:C4024807
is_a: HP:0000666 ! Horizontal nystagmus

[Term]
id: HP:0007748
name: obsolete Irido-fundal coloboma
is_obsolete: true
consider: HP:0000612

[Term]
id: HP:0007750
name: Hypoplasia of the fovea
def: "Underdevelopment of the fovea centralis." [HPO:probinson]
comment: A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea.
synonym: "Dull foveal reflex" RELATED []
synonym: "Foveal hypoplasia" EXACT []
xref: UMLS:C2673946
xref: UMLS:C4072863
is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea

[Term]
id: HP:0007754
name: Macular dystrophy
alt_id: HP:0007638
alt_id: HP:0007798
alt_id: HP:0007914
alt_id: HP:0007919
alt_id: HP:0007999
def: "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C0730292
is_a: HP:0000556 ! Retinal dystrophy
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0007755
name: Juvenile epithelial corneal dystrophy
xref: MSH:D053559
xref: SNOMEDCT_US:1674008
xref: UMLS:C0339277
is_a: HP:0200020 ! Corneal erosion

[Term]
id: HP:0007756
name: obsolete Slitlike anterior chamber angles in children
is_obsolete: true
replaced_by: HP:0000594

[Term]
id: HP:0007757
name: obsolete Hypoplasia of choroid
is_obsolete: true
replaced_by: HP:0000610

[Term]
id: HP:0007758
name: obsolete Congenital visual impairment
is_obsolete: true
replaced_by: HP:0000505

[Term]
id: HP:0007759
name: Opacification of the corneal stroma
alt_id: HP:0000515
alt_id: HP:0007662
alt_id: HP:0007896
alt_id: HP:0007966
def: "Reduced transparency of the stroma of cornea." [DDD:gblack]
synonym: "Cloudy cornea" EXACT []
synonym: "Cloudy corneas" RELATED [HPO:skoehler]
synonym: "Corneal stromal opacity" EXACT []
xref: SNOMEDCT_US:246957002
xref: UMLS:C0423250
xref: UMLS:C1856661
is_a: HP:0007957 ! Corneal opacity
is_a: HP:0011492 ! Abnormality of corneal stroma

[Term]
id: HP:0007760
name: Crystalline corneal dystrophy
xref: MSH:C535475
xref: SNOMEDCT_US:39662004
xref: SNOMEDCT_US:419395007
xref: UMLS:C0271287
is_a: HP:0007856 ! Punctate opacification of the cornea

[Term]
id: HP:0007761
name: Pericentral scotoma
def: "A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point." [HPO:probinson]
xref: SNOMEDCT_US:404650002
xref: UMLS:C1321308
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0007763
name: Retinal telangiectasia
def: "Dilatation of small blood vessels of the retina." [HPO:probinson]
subset: hposlim_core
xref: SNOMEDCT_US:84884003
xref: UMLS:C0154835
is_a: HP:0001009 ! Telangiectasia
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007765
name: Deep anterior chamber
def: "Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased." [HPO:probinson]
comment: Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos.
xref: SNOMEDCT_US:246991003
xref: UMLS:C0423280
is_a: HP:0000593 ! Abnormal anterior chamber morphology

[Term]
id: HP:0007766
name: Optic disc hypoplasia
alt_id: HP:0007794
alt_id: HP:0007890
def: "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve." [HPO:probinson]
synonym: "Hypoplastic optic disks" EXACT []
xref: SNOMEDCT_US:373650004
xref: UMLS:C1298695
is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve

[Term]
id: HP:0007768
name: Central retinal vessel vascular tortuosity
alt_id: HP:0008015
def: "The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules)." [HPO:probinson]
synonym: "Tortuosity of main retinal vessels" EXACT []
xref: UMLS:C4021569
is_a: HP:0000631 ! Retinal arterial tortuosity

[Term]
id: HP:0007769
name: Peripheral retinal degeneration
alt_id: HP:0007782
alt_id: HP:0007805
xref: SNOMEDCT_US:405721006
xref: SNOMEDCT_US:61536007
xref: UMLS:C1320640
is_a: HP:0000546 ! Retinal degeneration

[Term]
id: HP:0007770
name: Hypoplasia of the retina
synonym: "Retinal hypoplasia" EXACT []
synonym: "Underdeveloped retina" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1854685
is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina

[Term]
id: HP:0007772
name: Impaired smooth pursuit
alt_id: HP:0008029
def: "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal visual pursuit" RELATED []
synonym: "Abnormality of visual tracking" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Impairment of visual pursuit" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: UMLS:C1837458
xref: UMLS:C1848530
is_a: HP:0000617 ! Abnormality of ocular smooth pursuit

[Term]
id: HP:0007773
name: Vitreoretinopathy
alt_id: HP:0000655
def: "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [HPO:probinson, ORCID:0000-0003-0986-4123, PMID:18179896]
synonym: "Vitreoretinal abnormality" EXACT []
synonym: "Vitreoretinal degeneration" EXACT []
xref: UMLS:C1850109
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0007774
name: Hypoplasia of the ciliary body
def: "Underdevelopment of the ciliary body." [HPO:probinson]
xref: UMLS:C1836890
is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea
is_a: HP:0012776 ! Abnormal ciliary body morphology

[Term]
id: HP:0007776
name: Sparse lower eyelashes
alt_id: HP:0007785
synonym: "Hypotrichosis of lower eyelashes" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Partial absence of lower eyelashes" EXACT []
synonym: "Scanty lower eyelashes" EXACT layperson []
synonym: "Sparse lower eyelashes" EXACT layperson []
synonym: "Thin lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1835148
is_a: HP:0000653 ! Sparse eyelashes
is_a: HP:0040052 ! Abnormality of lower eyelashes

[Term]
id: HP:0007777
name: Chorioretinal scar
def: "Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye." []
xref: SNOMEDCT_US:53854005
xref: UMLS:C0008512
is_a: HP:0100699 ! Scarring
is_a: HP:0200065 ! Chorioretinal degeneration

[Term]
id: HP:0007778
name: Posterior retinal neovascularization
def: "A type of retinal neovascularization that affects the posterior pole of the retina." [HPO:probinson]
synonym: "Neovascularization of peripheral and posterior retina" EXACT []
synonym: "Posterior retinal neovascularisation" EXACT []
xref: UMLS:C4024803
is_a: HP:0030666 ! Retinal neovascularization

[Term]
id: HP:0007779
name: Anterior segment of eye aplasia
xref: UMLS:C1853234
is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye

[Term]
id: HP:0007780
name: Cortical pulverulent cataract
def: "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens." [HPO:probinson]
synonym: "Cataracts, cortical pulverulent" EXACT []
xref: UMLS:C4021568
is_a: HP:0010693 ! Pulverulent cataract

[Term]
id: HP:0007782
name: obsolete Peripheral retinal cone degeneration
is_obsolete: true
replaced_by: HP:0007769

[Term]
id: HP:0007783
name: obsolete Butterfly retinal pigment epithelial dystrophy
is_obsolete: true
consider: HP:0000556

[Term]
id: HP:0007786
name: obsolete Lacunar retinal depigmentation
is_obsolete: true

[Term]
id: HP:0007787
name: Posterior subcapsular cataract
alt_id: HP:0007666
alt_id: HP:0007857
def: "A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule." [HPO:probinson]
synonym: "Posterior subcapsular cataracts" RELATED [HPO:skoehler]
synonym: "Posterior subcapsular opacities of the lens" EXACT []
xref: SNOMEDCT_US:315353005
xref: UMLS:C0858617
is_a: HP:0000523 ! Subcapsular cataract

[Term]
id: HP:0007791
name: Patchy atrophy of the retinal pigment epithelium
def: "Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas." []
xref: UMLS:C4024800
is_a: HP:0007722 ! Retinal pigment epithelial atrophy

[Term]
id: HP:0007792
name: Microsaccadic pursuit
xref: UMLS:C1843892
is_a: HP:0001152 ! Saccadic smooth pursuit

[Term]
id: HP:0007793
name: Granular macular appearance
def: "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea." [HPO:probinson]
synonym: "Macular retinal pigment epithelial mottling" EXACT []
xref: UMLS:C4024799
is_a: HP:0007814 ! Retinal pigment epithelial mottling
is_a: HP:0008002 ! Abnormality of macular pigmentation

[Term]
id: HP:0007795
name: Anterior cortical cataract
def: "A cataract that affects the anterior part of the cortex of the lens." [HPO:probinson]
xref: UMLS:C1857308
is_a: HP:0100019 ! Cortical cataract

[Term]
id: HP:0007797
name: Retinal vascular malformation
xref: UMLS:C1861791
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007798
name: obsolete Foveal dystrophy
is_obsolete: true
consider: HP:0000493

[Term]
id: HP:0007799
name: Conjunctival whitish salt-like deposits
def: "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis." [HPO:probinson]
xref: UMLS:C1968901
is_a: HP:0000502 ! Abnormal conjunctiva morphology

[Term]
id: HP:0007800
name: Increased axial length of the globe
def: "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean." [DDD:ncarter]
synonym: "Globe elongated" EXACT []
synonym: "Increased axial globe length" EXACT []
synonym: "Increased front to back length of eyeball" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1835117
is_a: HP:0001090 ! Abnormally large globe

[Term]
id: HP:0007801
name: obsolete Fishnet retinal pigmentation
is_obsolete: true
consider: HP:0007703

[Term]
id: HP:0007802
name: Granular corneal dystrophy
def: "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material." [HPO:curators]
xref: MSH:D003317
xref: SNOMEDCT_US:45283008
xref: UMLS:C0018179
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007803
name: Monochromacy
alt_id: HP:0007954
def: "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray." [DDD:gblack]
comment: Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey.
synonym: "Complete achromatopsia" EXACT []
synonym: "Total colorblindness" RELATED layperson [HPO:skoehler]
xref: MSH:C536128
xref: MSH:D003117
xref: SNOMEDCT_US:56852002
xref: UMLS:C0152200
xref: UMLS:C1857618
is_a: HP:0000551 ! Color vision defect

[Term]
id: HP:0007807
name: Optic nerve compression
alt_id: HP:0008495
xref: SNOMEDCT_US:72983001
xref: UMLS:C0271344
is_a: HP:0000587 ! Abnormality of the optic nerve
is_a: HP:0001293 ! Cranial nerve compression

[Term]
id: HP:0007808
name: obsolete Bilateral retinal coloboma
is_obsolete: true
replaced_by: HP:0000480

[Term]
id: HP:0007809
name: Punctate corneal dystrophy
xref: UMLS:C4024796
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007810
name: obsolete Progressive bifocal chorioretinal atrophy
is_obsolete: true
consider: HP:0000533

[Term]
id: HP:0007811
name: Horizontal pendular nystagmus
alt_id: HP:0200069
def: "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity." [HPO:probinson]
comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other.
synonym: "Nystagmus, congenital horizontal" EXACT []
xref: UMLS:C1866180
is_a: HP:0000666 ! Horizontal nystagmus
is_a: HP:0006934 ! Congenital nystagmus
is_a: HP:0012043 ! Pendular nystagmus

[Term]
id: HP:0007812
name: Herpetiform corneal ulceration
def: "The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining." [HPO:probinson]
synonym: "Dendritic corneal epithelial ulcer" EXACT []
synonym: "Herpetiform corneal ulcers" EXACT []
xref: UMLS:C4020911
is_a: HP:0012804 ! Corneal ulceration

[Term]
id: HP:0007813
name: Nongranulomatous uveitis
def: "A form of uveitis that is not associated with the formation of granulomas." [HPO:probinson]
xref: UMLS:C4024795
is_a: HP:0000554 ! Uveitis

[Term]
id: HP:0007814
name: Retinal pigment epithelial mottling
alt_id: HP:0001124
def: "Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium." [HPO:probinson]
synonym: "Focal hypopigmentation of the retinal pigment epithelium" EXACT []
synonym: "Retinal pigment epithelium irregularity" EXACT []
synonym: "RPE irregularity" EXACT HP:0045077 []
synonym: "RPE mottling" EXACT HP:0045077 []
synonym: "Salt and pepper retinal pigmentation" EXACT []
synonym: "Salt and pepper retinopathy" EXACT []
xref: UMLS:C1857644
is_a: HP:0007703 ! Abnormality of retinal pigmentation

[Term]
id: HP:0007815
name: Abnormal distribution of retinal arterioles and venules
xref: UMLS:C3277463
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007817
name: Horizontal supranuclear gaze palsy
def: "A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson]
xref: UMLS:C4024794
is_a: HP:0000605 ! Supranuclear gaze palsy

[Term]
id: HP:0007818
name: Central heterochromia
def: "The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone." [HPO:probinson]
synonym: "Ring iris heterochromia" EXACT []
xref: UMLS:C4021567
is_a: HP:0001100 ! Heterochromia iridis

[Term]
id: HP:0007819
name: Presenile cataracts
alt_id: HP:0007848
def: "Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual." [HPO:probinson, pmid:17030721]
comment: Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age.
synonym: "Presenile cataract" EXACT []
xref: SNOMEDCT_US:441622000
xref: UMLS:C0154971
is_a: HP:0000518 ! Cataract

[Term]
id: HP:0007820
name: Lacrimal punctal atresia
def: "Congenital absence or closure of the opening of the lacrimal punctum." [HPO:probinson]
synonym: "Atretic lacrimal puncta" EXACT HP:0045078 []
synonym: "Atretic lacrimal punctum" EXACT []
xref: UMLS:C1863201
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology

[Term]
id: HP:0007822
name: Central retinal exudate
xref: UMLS:C4024793
is_a: HP:0001147 ! Retinal exudate

[Term]
id: HP:0007824
name: Total ophthalmoplegia
def: "Paralysis of both the extrinsic and intrinsic ocular muscles." [HPO:probinson]
synonym: "Complete ophthalmoplegia" EXACT []
synonym: "Global paralysis of gaze" EXACT []
synonym: "Total internal and external ophthalmoplegia" EXACT []
xref: SNOMEDCT_US:78097002
xref: UMLS:C0155338
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0007825
name: obsolete Cataracts develop in second or third decade
is_obsolete: true
replaced_by: HP:0000518

[Term]
id: HP:0007827
name: Nodular corneal dystrophy
xref: UMLS:C4024792
is_a: HP:0011494 ! Generalized opacification of the cornea

[Term]
id: HP:0007829
name: obsolete Diffuse retinal cone degeneration
is_obsolete: true
consider: HP:0000546

[Term]
id: HP:0007830
name: Adult-onset night blindness
def: "Inability to see well at night or in poor light with onset in adulthood." [HPO:probinson]
synonym: "Adult-onset night blindness" EXACT layperson []
xref: UMLS:C4024790
is_a: HP:0000662 ! Nyctalopia

[Term]
id: HP:0007831
name: Nonprogressive restrictive external ophthalmoplegia
alt_id: HP:0007682
def: "Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [HPO:probinson]
xref: UMLS:C4024789
is_a: HP:0000544 ! External ophthalmoplegia

[Term]
id: HP:0007832
name: Pigmentation of the sclera
synonym: "Pigmentation of the outer white part of the eyeball" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859882
is_a: HP:0000591 ! Abnormal sclera morphology

[Term]
id: HP:0007833
name: Anterior chamber synechiae
xref: UMLS:C4024788
is_a: HP:0000593 ! Abnormal anterior chamber morphology

[Term]
id: HP:0007834
name: Progressive cataract
alt_id: HP:0007828
def: "A kind of cataract that progresses with age." [HPO:probinson]
synonym: "Cataract, progressive" EXACT []
xref: UMLS:C4021566
is_a: HP:0000518 ! Cataract

[Term]
id: HP:0007835
name: S-shaped palpebral fissures
synonym: "S-shaped eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "S-shaped opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024787
is_a: HP:0200005 ! Abnormal shape of the palpebral fissure

[Term]
id: HP:0007836
name: Mosaic corneal dystrophy
xref: UMLS:C4024786
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007838
name: Progressive ptosis
def: "A progressive form of ptosis." [HPO:probinson]
synonym: "Progressive drooping of upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834015
is_a: HP:0000508 ! Ptosis

[Term]
id: HP:0007840
name: Long upper eyelashes
def: "Increased length of the upper eyelashes." [HPO:probinson]
synonym: "Ciliary trichomegaly of upper eyelashes" EXACT []
synonym: "Increased length of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long upper eyelashes" EXACT layperson []
xref: UMLS:C4024785
is_a: HP:0000527 ! Long eyelashes
is_a: HP:0040051 ! Abnormality of upper eyelashes

[Term]
id: HP:0007841
name: Amyloid deposition in the vitreous humor
def: "Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity." [HPO:probinson]
synonym: "Vitreous amyloid deposits" EXACT []
xref: UMLS:C4024784
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0007843
name: Attenuation of retinal blood vessels
synonym: "Narrowing of blood vessels in back of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C3278975
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007850
name: Retinal vascular proliferation
xref: MSH:D015861
xref: SNOMEDCT_US:61267008
xref: UMLS:C0035320
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007851
name: obsolete Temporal displacement of maculae
is_obsolete: true
consider: HP:0001103

[Term]
id: HP:0007852
name: obsolete Pericentral pigmentary retinopathy
is_obsolete: true
replaced_by: HP:0000580

[Term]
id: HP:0007854
name: Glaucomatous visual field defect
xref: SNOMEDCT_US:370961005
xref: UMLS:C1299694
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0007856
name: Punctate opacification of the cornea
alt_id: HP:0008004
def: "Punctate opacification (reduced transparency) of the corneal stroma." [DDD:gblack]
synonym: "Punctate corneal opacities" EXACT []
xref: UMLS:C4021565
is_a: HP:0007759 ! Opacification of the corneal stroma

[Term]
id: HP:0007858
name: Chorioretinal lacunae
alt_id: HP:0007786
def: "Punched out lesions in the pigmented layer of the retina." [HPO:probinson]
comment: A chorioretinal lacuna can have the appearance of a pseudodisk in the retina.
subset: hposlim_core
synonym: "Lacunar retinal depigmentation" RELATED []
xref: UMLS:C1844751
xref: UMLS:C4072866
is_a: HP:0000532 ! Abnormal chorioretinal morphology

[Term]
id: HP:0007859
name: Congenital horizontal nystagmus
def: "Horizontal nystagmus dating from or present at birth." [HPO:curators]
xref: UMLS:C1866180
is_a: HP:0000666 ! Horizontal nystagmus
is_a: HP:0006934 ! Congenital nystagmus

[Term]
id: HP:0007862
name: Retinal calcification
def: "Deposition of calcium salts in the retina." [HPO:probinson]
xref: UMLS:C1867289
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0030506 ! Yellow/white lesions of the retina

[Term]
id: HP:0007866
name: Retinal infarction
xref: UMLS:C0281967
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0007867
name: Restrictive partial external ophthalmoplegia
def: "Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position." [HPO:probinson]
xref: UMLS:C4024781
is_a: HP:0007936 ! Restrictive external ophthalmoplegia

[Term]
id: HP:0007868
name: obsolete Age-related macular degeneration
is_obsolete: true
consider: HP:0000608

[Term]
id: HP:0007869
name: obsolete Peripheral retinopathy
is_obsolete: true

[Term]
id: HP:0007872
name: Choroidal hemangioma
def: "The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas." [HPO:probinson]
comment: Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic.
xref: NCIT:C3086
xref: SNOMEDCT_US:255022003
xref: UMLS:C0346390
is_a: HP:0001028 ! Hemangioma
is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature

[Term]
id: HP:0007873
name: Abnormally prominent line of Schwalbe
alt_id: HP:0007940
synonym: "Prominent Schwalbe lines" EXACT []
xref: UMLS:C1862376
is_a: HP:0008048 ! Abnormality of the line of Schwalbe

[Term]
id: HP:0007874
name: Almond-shaped palpebral fissure
def: "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point." [pmid:19125427]
comment: The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow.
subset: hposlim_core
synonym: "Almond shaped eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Almond-shaped opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024780
is_a: HP:0200005 ! Abnormal shape of the palpebral fissure

[Term]
id: HP:0007875
name: Congenital blindness
alt_id: HP:0007706
def: "Blindness with onset at birth." [HPO:probinson]
synonym: "Blindness present at birth" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Congenital amaurosis" EXACT []
xref: SNOMEDCT_US:95486002
xref: UMLS:C0005754
is_a: HP:0000618 ! Blindness

[Term]
id: HP:0007876
name: obsolete Juvenile cortical cataract
is_obsolete: true
replaced_by: HP:0100019

[Term]
id: HP:0007879
name: Allergic conjunctivitis
def: "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva." [HPO:probinson]
xref: MSH:D003233
xref: SNOMEDCT_US:231854006
xref: SNOMEDCT_US:473460002
xref: UMLS:C0009766
is_a: HP:0000509 ! Conjunctivitis
is_a: HP:0012393 ! Allergy

[Term]
id: HP:0007880
name: Marginal corneal dystrophy
xref: UMLS:C4024779
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007881
name: Central corneal dystrophy
xref: UMLS:C4024778
is_a: HP:0011493 ! Central opacification of the cornea

[Term]
id: HP:0007885
name: Slowed horizontal saccades
def: "An abnormally slow velocity of horizontal saccadic eye movements." [HPO:probinson]
comment: Saccades are rapid eye movements that align the fovea with the target.
xref: UMLS:C1856477
is_a: HP:0000514 ! Slow saccadic eye movements

[Term]
id: HP:0007886
name: Absent extraocular muscles
def: "Congenital absence of the extraocular muscles." [HPO:probinson]
synonym: "Absent ocular muscles" RELATED []
synonym: "Missing eye muscles" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1408781
xref: UMLS:C4024777
is_a: HP:0008049 ! Abnormality of the extraocular muscles

[Term]
id: HP:0007889
name: Iridescent posterior subcapsular cataract
def: "A type of posterior subcapsular cataract characterized by an iridescent color." [HPO:probinson, pmid:7826272]
synonym: "Cataracts, posterior, subcapsular, iridescent" EXACT []
xref: UMLS:C1864573
is_a: HP:0007787 ! Posterior subcapsular cataract

[Term]
id: HP:0007892
name: Hypoplasia of the lacrimal punctum
def: "Underdevelopment of the lacrimal puncta." [HPO:probinson]
synonym: "Hypoplasia of the lacrimal puncta" EXACT HP:0045078 []
synonym: "Hypoplastic lacrimal puncta" EXACT HP:0045078 []
xref: UMLS:C4021564
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology

[Term]
id: HP:0007893
name: obsolete Progressive retinal degeneration
is_obsolete: true

[Term]
id: HP:0007894
name: Hypopigmentation of the fundus
alt_id: HP:0001111
alt_id: HP:0001487
alt_id: HP:0007746
alt_id: HP:0007752
def: "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." [ORCID:0000-0003-0986-4123]
synonym: "Decreased fundus pigmentation" EXACT []
synonym: "Fundus hypopigmentation" EXACT []
xref: SNOMEDCT_US:95694000
xref: UMLS:C0151891
is_a: HP:0031605 ! Abnormality of fundus pigmentation

[Term]
id: HP:0007898
name: Exudative retinopathy
xref: MSH:D058456
xref: SNOMEDCT_US:25506007
xref: SNOMEDCT_US:360455002
xref: UMLS:C0154832
is_a: HP:0001147 ! Retinal exudate

[Term]
id: HP:0007899
name: Retinal nonattachment
alt_id: HP:0007849
def: "Failure of attachment of the retina during development." [HPO:probinson, pmid:21441919]
synonym: "Congenital retinal non-attachment" EXACT []
xref: UMLS:C4021563
is_a: HP:0000541 ! Retinal detachment

[Term]
id: HP:0007900
name: Hypoplastic lacrimal duct
synonym: "Underdeveloped tear duct" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1968574
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0007901
name: obsolete Retinal malformation
is_obsolete: true
replaced_by: HP:0000479

[Term]
id: HP:0007902
name: Vitreous hemorrhage
def: "Bleeding within the vitreous compartment of the eye." [DDD:akelly, PMID:16882398]
comment: The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others.
subset: hposlim_core
synonym: "Vitreous haemorrhage" EXACT HP:0045076 []
xref: MSH:D014823
xref: SNOMEDCT_US:31341008
xref: UMLS:C0042909
is_a: HP:0004327 ! Abnormal vitreous humor morphology
is_a: HP:0011885 ! Hemorrhage of the eye

[Term]
id: HP:0007903
name: Paravenous chorioretinal atrophy
def: "Chorioretinal atrophy along the retinal veins." [HPO:probinson, pmid:15623792]
xref: UMLS:C4072868
is_a: HP:0000533 ! Chorioretinal atrophy

[Term]
id: HP:0007905
name: Abnormal iris vasculature
synonym: "Abnormality of iris blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3275963
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0008047 ! Abnormality of the vasculature of the eye

[Term]
id: HP:0007906
name: Ocular hypertension
def: "Intraocular pressure that is 2 standard deviations above the population mean." []
synonym: "Elevated intraocular pressure" EXACT []
synonym: "Elevated IOP" EXACT HP:0045077 []
synonym: "High eye pressure" EXACT layperson []
synonym: "Increased intraocular pressure" EXACT []
synonym: "Increased IOP" EXACT HP:0045077 []
synonym: "Raised intraocular pressure" EXACT []
synonym: "Raised IOP" EXACT HP:0045077 []
xref: SNOMEDCT_US:112222000
xref: UMLS:C0234708
is_a: HP:0012632 ! Abnormal intraocular pressure

[Term]
id: HP:0007910
name: obsolete Nonprogressive congenital retinal dystrophy
is_obsolete: true

[Term]
id: HP:0007911
name: Congenital bilateral ptosis
alt_id: HP:0007719
alt_id: HP:0007955
synonym: "Congenital drooping of both upper eyelids" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Ptosis, bilateral congenital" EXACT []
synonym: "Ptosis, congenital bilateral" EXACT []
xref: UMLS:C1836264
is_a: HP:0001488 ! Bilateral ptosis
is_a: HP:0007970 ! Congenital ptosis

[Term]
id: HP:0007913
name: Reticular retinal dystrophy
def: "A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation." []
xref: UMLS:C4024776
is_a: HP:0007963 ! Pattern dystrophy of the retina

[Term]
id: HP:0007915
name: Polymorphous posterior corneal dystrophy
def: "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma." [HPO:probinson]
xref: MSH:C562745
xref: SNOMEDCT_US:29504002
xref: UMLS:C0339284
is_a: HP:0011489 ! Abnormal migration of corneal endothelium
is_a: HP:0011491 ! Reduced number of corneal endothelial cells

[Term]
id: HP:0007916
name: obsolete Small anterior lens surface opacities
is_obsolete: true
consider: HP:0007795

[Term]
id: HP:0007917
name: Tractional retinal detachment
def: "A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes." [HPO:probinson, ISBN-13:978-0199679980]
xref: UMLS:C1866178
is_a: HP:0000541 ! Retinal detachment

[Term]
id: HP:0007920
name: obsolete Congenital chorioretinal dystrophy
is_obsolete: true
replaced_by: HP:0001135

[Term]
id: HP:0007922
name: Hypermyelinated retinal nerve fibers
alt_id: HP:0007654
synonym: "Retinal striation" EXACT []
xref: UMLS:C1849151
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0012447 ! Abnormal myelination

[Term]
id: HP:0007923
name: obsolete Foveal hyperplasia
is_obsolete: true
consider: HP:0000493

[Term]
id: HP:0007924
name: Slow decrease in visual acuity
alt_id: HP:0007652
synonym: "Decreased visual acuity, slowly progressive" RELATED [HPO:skoehler]
synonym: "Slow decrease in sharpness of vision" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Subacute deterioration of visual acuity" EXACT []
xref: UMLS:C1853141
xref: UMLS:C3278981
is_a: HP:0000529 ! Progressive visual loss

[Term]
id: HP:0007925
name: Lacrimal duct aplasia
def: "A congenital defect resulting in absence of the lacrimal duct." [HPO:probinson]
synonym: "Absent tear duct" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024773
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0007928
name: Abnormal flash visual evoked potentials
def: "Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room." [HPO:probinson]
xref: UMLS:C4024772
is_a: HP:0000649 ! Abnormality of visual evoked potentials

[Term]
id: HP:0007929
name: Peripheral retinal detachment
def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina." []
xref: UMLS:C4024771
is_a: HP:0000541 ! Retinal detachment

[Term]
id: HP:0007930
name: obsolete Prominent epicanthal folds
is_obsolete: true
replaced_by: HP:0000286

[Term]
id: HP:0007932
name: Bilateral congenital mydriasis
def: "Congenital abnormal dilation of the pupil on both sides." [HPO:probinson]
xref: UMLS:C4024770
is_a: HP:0011499 ! Mydriasis

[Term]
id: HP:0007933
name: Broad lateral eyebrow
def: "Regional increase in the width (height) of the lateral eyebrow." [HPO:probinson]
synonym: "Wide lateral eyebrow" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1837733
is_a: HP:0011229 ! Broad eyebrow

[Term]
id: HP:0007935
name: Juvenile posterior subcapsular lenticular opacities
xref: UMLS:C1863408
is_a: HP:0007787 ! Posterior subcapsular cataract

[Term]
id: HP:0007936
name: Restrictive external ophthalmoplegia
alt_id: HP:0007846
alt_id: HP:0007959
alt_id: HP:0008025
def: "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [HPO:probinson]
synonym: "Restrictive external ophthalmoplegia, bilateral" RELATED []
synonym: "Restrictive ophthalmoplegia" EXACT []
xref: UMLS:C1865918
xref: UMLS:C4020806
is_a: HP:0000544 ! External ophthalmoplegia

[Term]
id: HP:0007937
name: Reticular pigmentary degeneration
def: "A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus." [HPO:fprobst, PMID:28114409]
synonym: "Fishnet retinal pigmentation" EXACT []
synonym: "Honeycomb retinal degeneration" EXACT []
xref: UMLS:C4024769
is_a: HP:0007769 ! Peripheral retinal degeneration
is_a: HP:0011512 ! Hyperpigmentation of the fundus

[Term]
id: HP:0007939
name: Blue cone monochromacy
def: "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors." [HPO:probinson]
synonym: "Blue cone monochromatism" EXACT []
synonym: "Incomplete achromatopsia" EXACT []
synonym: "S-cone monochromacy" EXACT []
xref: MSH:C536238
xref: SNOMEDCT_US:24704003
xref: UMLS:C0339537
is_a: HP:0011517 ! Cone monochromacy

[Term]
id: HP:0007941
name: Limited extraocular movements
synonym: "Limited extraocular movement" EXACT []
xref: UMLS:C1858427
is_a: HP:0000496 ! Abnormality of eye movement

[Term]
id: HP:0007942
name: Internal ophthalmoplegia
def: "Paralysis of the iris and ciliary apparatus." [HPO:probinson]
comment: Paralysis of the internal ocular muscles, the iris and ciliary apparatus.
xref: MSH:D009886
xref: SNOMEDCT_US:232146005
xref: UMLS:C0339693
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0007943
name: Congenital stapes ankylosis
def: "A form of stapes ankylosis with congenital onset." [HPO:probinson]
xref: UMLS:C1866657
is_a: HP:0000381 ! Stapes ankylosis

[Term]
id: HP:0007944
name: Intermittent microsaccadic pursuits
xref: UMLS:C4024768
is_a: HP:0001152 ! Saccadic smooth pursuit

[Term]
id: HP:0007945
name: obsolete Choroidal degeneration
is_obsolete: true
consider: HP:0200065

[Term]
id: HP:0007946
name: Unilateral narrow palpebral fissure
def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only." [HPO:probinson]
synonym: "Narrow palpebral fissure, unilateral" EXACT []
synonym: "Unequal size of opening between the eyelids" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1866805
xref: UMLS:C4280419
is_a: HP:0000581 ! Blepharophimosis

[Term]
id: HP:0007947
name: Pericentral retinitis pigmentosa
def: "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery." [ORCID:0000-0003-0986-4123, PMID:28981474]
xref: MSH:C564838
xref: UMLS:C1849398
is_a: HP:0000510 ! Rod-cone dystrophy

[Term]
id: HP:0007948
name: Dense posterior cortical cataract
def: "A type of posterior cortical cataract characterized by dense lenticular opacities." [HPO:probinson]
xref: UMLS:C4024767
is_a: HP:0010924 ! Posterior cortical cataract

[Term]
id: HP:0007949
name: obsolete Progressive macular scarring
is_obsolete: true

[Term]
id: HP:0007950
name: Peripapillary chorioretinal atrophy
def: "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head)." [HPO:probinson]
xref: UMLS:C4024765
is_a: HP:0000533 ! Chorioretinal atrophy

[Term]
id: HP:0007956
name: obsolete Bilateral choroid coloboma
is_obsolete: true
replaced_by: HP:0000567

[Term]
id: HP:0007957
name: Corneal opacity
alt_id: HP:0007844
alt_id: HP:0007883
alt_id: HP:0008502
def: "A reduction of corneal clarity." [HPO:probinson]
subset: hposlim_core
synonym: "Corneal clouding" EXACT []
synonym: "Corneal opacities" EXACT []
synonym: "Reduction of corneal clarity" EXACT []
synonym: "Scarring or clouding of the cornea of the eye" EXACT []
xref: MSH:D003318
xref: SNOMEDCT_US:413921009
xref: SNOMEDCT_US:64634000
xref: SNOMEDCT_US:95735008
xref: UMLS:C0010038
xref: UMLS:C0521719
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0007958
name: Optic atrophy from cranial nerve compression
xref: UMLS:C4024763
is_a: HP:0000648 ! Optic atrophy
is_a: HP:0001293 ! Cranial nerve compression

[Term]
id: HP:0007961
name: obsolete Rarefaction of retinal pigmentation
is_obsolete: true
consider: HP:0000580

[Term]
id: HP:0007962
name: Speckled corneal dystrophy
xref: UMLS:C4021857
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0007963
name: Pattern dystrophy of the retina
def: "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)." [ORCID:0000-0003-0986-4123]
xref: UMLS:C4024762
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0007964
name: Degenerative vitreoretinopathy
xref: UMLS:C1843486
is_a: HP:0007773 ! Vitreoretinopathy

[Term]
id: HP:0007965
name: Undetectable visual evoked potentials
synonym: "Absence of visual evoked potentials" EXACT []
synonym: "Non-detectable VEP" EXACT []
synonym: "Undetectable VEP" EXACT []
xref: UMLS:C1850069
is_a: HP:0000649 ! Abnormality of visual evoked potentials

[Term]
id: HP:0007968
name: Remnants of the hyaloid vascular system
def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." [HPO:probinson]
subset: hposlim_core
synonym: "Congenital retinal septum" EXACT []
synonym: "Persistent fetal vasculature" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Persistent hyperplasia of primary vitreous" EXACT []
synonym: "Persistent hyperplastic primary vitreous" EXACT []
synonym: "Persistent hypertrophic primary vitreous" EXACT []
synonym: "Persistent posterior fetal fibrovascular sheath of the lens" EXACT []
synonym: "Persistent tunica vasculosa lentis" EXACT []
xref: MSH:D054514
xref: SNOMEDCT_US:314270008
xref: SNOMEDCT_US:44647001
xref: SNOMEDCT_US:69927002
xref: UMLS:C0266568
is_a: HP:0004327 ! Abnormal vitreous humor morphology

[Term]
id: HP:0007970
name: Congenital ptosis
synonym: "Congenital drooping upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:268163008
xref: SNOMEDCT_US:61989004
xref: UMLS:C0266573
is_a: HP:0000508 ! Ptosis

[Term]
id: HP:0007971
name: Lamellar cataract
def: "A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens." [HPO:probinson]
xref: SNOMEDCT_US:204128001
xref: SNOMEDCT_US:21590003
xref: UMLS:C0266537
is_a: HP:0010920 ! Zonular cataract

[Term]
id: HP:0007973
name: Retinal dysplasia
alt_id: HP:0007901
alt_id: HP:0008022
def: "The presence of developmental dysplasia of the retina." [HPO:probinson]
comment: This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately.
subset: hposlim_core
synonym: "Retinal dysgenesis" EXACT []
xref: MSH:D015792
xref: SNOMEDCT_US:95494009
xref: UMLS:C0035313
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0007975
name: Hypometric horizontal saccades
def: "Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [HPO:probinson, pmid:572501]
xref: UMLS:C1856478
is_a: HP:0000571 ! Hypometric saccades

[Term]
id: HP:0007976
name: Cerulean cataract
def: "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary." [HPO:probinson, pmid:19496508, pmid:9158139]
synonym: "Cataracts, congenital, cerulean" EXACT []
xref: MSH:C537955
xref: SNOMEDCT_US:204138006
xref: UMLS:C0344523
is_a: HP:0007648 ! Punctate cataract

[Term]
id: HP:0007979
name: Gaze-evoked horizontal nystagmus
alt_id: HP:0007639
def: "Horizontal nystagmus made apparent by looking to the right or to the left." [HPO:curators]
synonym: "Nystagmus, horizontal gaze-evoked" RELATED [HPO:skoehler]
synonym: "Nystagmus, horizontal, gaze-evoked" EXACT []
xref: UMLS:C1853394
is_a: HP:0000640 ! Gaze-evoked nystagmus
is_a: HP:0000666 ! Horizontal nystagmus

[Term]
id: HP:0007980
name: Absent retinal pigment epithelium
xref: UMLS:C1852548
is_a: HP:0007894 ! Hypopigmentation of the fundus

[Term]
id: HP:0007981
name: obsolete Concentric narrowing of visual field
is_obsolete: true
replaced_by: HP:0001133

[Term]
id: HP:0007982
name: obsolete Central tapetoretinal dystrophy
is_obsolete: true

[Term]
id: HP:0007984
name: Electronegative electroretinogram
def: "A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3]." [HPO:probinson]
comment: Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave.
synonym: "Electronegative ERG" EXACT HP:0045077 []
synonym: "Electroretinogram: reduced b-wave amplitude" EXACT []
synonym: "Reduced amplitude of dark-adapted bright flash electroretinogram b-wave" EXACT []
synonym: "Reduced electroretinogram rod b-wave" EXACT []
synonym: "Reduced ERG amplitude of b-wave" EXACT []
xref: UMLS:C4021561
is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretinogram

[Term]
id: HP:0007985
name: Retinal arteriolar occlusion
def: "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina." [HPO:probinson]
synonym: "Blocked retinal artery" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024761
is_a: HP:0000630 ! Abnormal retinal artery morphology
is_a: HP:0100545 ! Arterial stenosis

[Term]
id: HP:0007986
name: Increased retinal vascularity
xref: UMLS:C1847882
is_a: HP:0008046 ! Abnormal retinal vascular morphology

[Term]
id: HP:0007987
name: Progressive visual field defects
xref: UMLS:C4024760
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0007988
name: Macular hypopigmentation
def: "Decreased amount of pigmentation in the macula lutea." [DDD:ncarter]
xref: UMLS:C4024759
is_a: HP:0008002 ! Abnormality of macular pigmentation

[Term]
id: HP:0007989
name: Intraretinal exudate
def: "Retinal exudate within the retinal tissue itself." [HPO:probinson]
xref: UMLS:C4024758
is_a: HP:0001147 ! Retinal exudate

[Term]
id: HP:0007990
name: Hypoplastic iris stroma
alt_id: HP:0007991
alt_id: HP:0008027
def: "Underdevelopment of the stroma of iris." [HPO:probinson]
synonym: "Hypoplastic iris stoma" EXACT []
synonym: "Iris stromal hypoplasia" EXACT []
synonym: "Underdeveloped iris stroma" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1860344
is_a: HP:0007676 ! Hypoplasia of the iris

[Term]
id: HP:0007992
name: Lattice retinal degeneration
xref: SNOMEDCT_US:3577000
xref: UMLS:C0154856
is_a: HP:0007769 ! Peripheral retinal degeneration

[Term]
id: HP:0007993
name: Malformed lacrimal duct
def: "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies." [HPO:probinson]
synonym: "Malformed tear ducts" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024757
is_a: HP:0011481 ! Abnormal lacrimal duct morphology

[Term]
id: HP:0007994
name: Peripheral visual field loss
def: "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." [HPO:probinson]
synonym: "Kalnienk vision" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Loss of peripheral vision" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Tunnel vision" RELATED layperson []
xref: SNOMEDCT_US:420990001
xref: UMLS:C0241688
xref: UMLS:C2937228
is_a: HP:0001133 ! Constriction of peripheral visual field

[Term]
id: HP:0008000
name: Decreased corneal reflex
def: "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids." [HPO:probinson]
synonym: "Decreased blink reflex" EXACT []
synonym: "Reduced corneal reflex" EXACT []
xref: MSH:D012021
xref: SNOMEDCT_US:103254005
xref: UMLS:C0151572
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0008001
name: Foveal hyperpigmentation
def: "Increased amount of pigmentation in the fovea centralis." [HPO:probinson]
xref: UMLS:C3809301
is_a: HP:0030493 ! Abnormality of foveal pigmentation

[Term]
id: HP:0008002
name: Abnormality of macular pigmentation
def: "Abnormality of macular or foveal pigmentation." [DDD:ncarter]
subset: hposlim_core
synonym: "Macular pigmentary changes" RELATED []
xref: UMLS:C1837087
xref: UMLS:C4024756
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0008003
name: Jerky ocular pursuit movements
alt_id: HP:0007897
synonym: "Jerky smooth pursuit" EXACT []
xref: UMLS:C1853558
is_a: HP:0000617 ! Abnormality of ocular smooth pursuit

[Term]
id: HP:0008005
name: Congenital corneal dystrophy
xref: UMLS:C1611195
is_a: HP:0001131 ! Corneal dystrophy

[Term]
id: HP:0008007
name: Primary congenital glaucoma
xref: SNOMEDCT_US:415176004
xref: UMLS:C1533041
is_a: HP:0001087 ! Developmental glaucoma

[Term]
id: HP:0008008
name: obsolete Progressive central visual loss
is_obsolete: true

[Term]
id: HP:0008009
name: Three rows of eyelashes
synonym: "Three rows of eyelashes" EXACT layperson []
synonym: "Triple row of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1860785
is_a: HP:0008496 ! Multiple rows of eyelashes

[Term]
id: HP:0008011
name: Peripheral opacification of the cornea
def: "Reduced transparency of the peripheral region of the cornea." [HPO:probinson]
synonym: "Peripheral corneal opacity" EXACT []
xref: SNOMEDCT_US:55713007
xref: UMLS:C0155100
is_a: HP:0007759 ! Opacification of the corneal stroma

[Term]
id: HP:0008012
name: obsolete Congenital myopia
is_obsolete: true
consider: HP:0000545

[Term]
id: HP:0008014
name: Central fundal arteriolar microaneurysms
def: "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc." [HPO:probinson]
xref: UMLS:C4024755
is_a: HP:0032416 ! Retinal microaneurysm

[Term]
id: HP:0008017
name: obsolete Depigmented lesions of the retinal pigment epithelium
is_obsolete: true

[Term]
id: HP:0008019
name: Superior lens subluxation
def: "Partial dislocation of the lens in a superior direction." [HPO:probinson, pmid:5087595]
synonym: "Superior subluxated lens" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C2036843
is_a: HP:0001132 ! Lens subluxation

[Term]
id: HP:0008020
name: Cone dystrophy
alt_id: HP:0007789
def: "Inherited progressive cone degeneration." []
synonym: "Progressive cone degeneration" EXACT []
synonym: "Progressive cone dystrophy" EXACT []
xref: UMLS:C3665342
is_a: HP:0000548 ! Cone/cone-rod dystrophy

[Term]
id: HP:0008024
name: obsolete Congenital nuclear cataract
is_obsolete: true
replaced_by: HP:0100018

[Term]
id: HP:0008026
name: Horizontal opticokinetic nystagmus
xref: UMLS:C4024754
is_a: HP:0000666 ! Horizontal nystagmus

[Term]
id: HP:0008028
name: Cystoid macular degeneration
alt_id: HP:0007673
def: "A form of macular degeneration characterized by the presence of multiple cysts in the macula." [HPO:probinson]
synonym: "Cystic macular degeneration" EXACT []
xref: SNOMEDCT_US:14046000
xref: UMLS:C0154850
is_a: HP:0000608 ! Macular degeneration

[Term]
id: HP:0008030
name: Retinal arteritis
synonym: "Retinal vaculitis" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:11255009
xref: UMLS:C0271069
is_a: HP:0000630 ! Abnormal retinal artery morphology
is_a: HP:0012089 ! Arteritis
is_a: HP:0025188 ! Retinal vasculitis

[Term]
id: HP:0008031
name: Posterior Y-sutural cataract
def: "A type of sutural cataract in which the opacity follows the posterior Y suture." [HPO:probinson]
synonym: "Posterior Y-sutural cataracts" EXACT []
xref: UMLS:C4021560
is_a: HP:0010695 ! Sutural cataract

[Term]
id: HP:0008033
name: obsolete Congenital exotropia
is_obsolete: true
replaced_by: HP:0000577

[Term]
id: HP:0008034
name: Abnormal iris pigmentation
def: "Abnormal pigmentation of the iris." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C1834387
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0008035
name: Retinitis pigmentosa inversa
alt_id: HP:0008506
def: "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)." [ORCID:0000-0003-0986-4123, PMID:9734800]
synonym: "Central retinitis pigmentosa" EXACT []
xref: UMLS:C4021559
is_a: HP:0000546 ! Retinal degeneration

[Term]
id: HP:0008036
name: obsolete Rod-cone dystrophy
is_obsolete: true

[Term]
id: HP:0008037
name: Absent anterior chamber of the eye
def: "Absence of the anterior chamber of the eye owing to a developmental defect." []
xref: SNOMEDCT_US:404675003
xref: SNOMEDCT_US:55457007
xref: UMLS:C0271004
is_a: HP:0000593 ! Abnormal anterior chamber morphology

[Term]
id: HP:0008038
name: Aplastic/hypoplastic lacrimal glands
def: "Absence or underdevelopment of the lacrimal gland." [HPO:probinson]
synonym: "Absent/underdeveloped lacrimal glands" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped tear glands" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1835602
is_a: HP:0011482 ! Abnormal lacrimal gland morphology

[Term]
id: HP:0008039
name: Subepithelial corneal opacities
xref: UMLS:C1857307
is_a: HP:0007727 ! Opacification of the corneal epithelium

[Term]
id: HP:0008041
name: Late onset congenital glaucoma
xref: UMLS:C1856441
is_a: HP:0001087 ! Developmental glaucoma

[Term]
id: HP:0008043
name: Retinal arteriolar constriction
alt_id: HP:0007952
alt_id: HP:0008510
def: "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina." [HPO:probinson]
comment: Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery.
synonym: "Constricted retinal arterioles" EXACT []
synonym: "Narrow retinal arterioles" EXACT []
synonym: "Retinal arteriolar narrowing" EXACT []
xref: UMLS:C2176208
is_a: HP:0000630 ! Abnormal retinal artery morphology

[Term]
id: HP:0008045
name: Enlarged flash visual evoked potentials
synonym: "High flash visual evoked potentials" EXACT []
xref: UMLS:C4021558
is_a: HP:0030462 ! Abnormal amplitude of flash visual evoked potentials

[Term]
id: HP:0008046
name: Abnormal retinal vascular morphology
def: "A structural abnormality of retinal vasculature." [HPO:probinson]
synonym: "Abnormality of retina blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the retinal vasculature" EXACT []
xref: UMLS:C4024753
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0008047 ! Abnormality of the vasculature of the eye
created_by: peter
creation_date: 2008-04-02T12:09:00Z

[Term]
id: HP:0008047
name: Abnormality of the vasculature of the eye
synonym: "Abnormality of eye blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024752
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0012372 ! Abnormal eye morphology
created_by: peter
creation_date: 2008-04-02T12:10:00Z

[Term]
id: HP:0008048
name: Abnormality of the line of Schwalbe
def: "An abnormality of the line of Schwalbe." [HPO:probinson]
comment: Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer.
xref: UMLS:C4021856
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: peter
creation_date: 2008-04-02T12:12:00Z

[Term]
id: HP:0008049
name: Abnormality of the extraocular muscles
def: "An abnormality of an extraocular muscle." [HPO:probinson]
comment: There are six extraocular muscles that control the movements of the eye.
xref: UMLS:C4024751
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0030669 ! Abnormal ocular adnexa morphology
created_by: peter
creation_date: 2008-04-02T12:14:00Z

[Term]
id: HP:0008050
name: Abnormality of the palpebral fissures
def: "An anomaly of the space between the medial and lateral canthi of the two open eyelids." [HPO:probinson]
synonym: "Abnormality of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the palpebral fissures" EXACT layperson []
synonym: "Deformity of the palpebral fissures" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the palpebral fissures" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024750
is_a: HP:0000492 ! Abnormal eyelid morphology
created_by: peter
creation_date: 2008-04-02T01:22:00Z

[Term]
id: HP:0008051
name: obsolete Abnormality of the retinal pigment epithelium
is_obsolete: true
replaced_by: HP:0007703

[Term]
id: HP:0008052
name: Retinal fold
def: "A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy." [HPO:probinson]
synonym: "Retinal folds" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:37480005
xref: UMLS:C0229197
is_a: HP:0000479 ! Abnormal retinal morphology
created_by: peter
creation_date: 2008-04-02T01:37:00Z

[Term]
id: HP:0008053
name: Aplasia/Hypoplasia of the iris
def: "Absence or underdevelopment of the iris." [HPO:probinson]
synonym: "Absent/small iris" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped iris" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024748
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea
is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye
created_by: peter
creation_date: 2008-04-02T01:50:00Z

[Term]
id: HP:0008054
name: Abnormal morphology of the conjunctival vasculature
def: "Any abnormality of the blood vessels of the conjunctiva." [HPO:curators]
synonym: "Abnormal morphology of the conjunctiva vasculature" EXACT []
synonym: "Abnormal vasculature of the conjunctiva morphology" EXACT []
synonym: "Abnormality of the vasculature of the conjunctiva" EXACT []
xref: UMLS:C4024747
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0008047 ! Abnormality of the vasculature of the eye
created_by: peter
creation_date: 2008-04-02T03:04:00Z

[Term]
id: HP:0008055
name: Aplasia/Hypoplasia affecting the uvea
def: "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid." [HPO:probinson]
synonym: "Absent/underdeveloped uvea" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024746
is_a: HP:0000553 ! Abnormal uvea morphology
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
created_by: peter
creation_date: 2008-04-02T03:24:00Z

[Term]
id: HP:0008056
name: Aplasia/Hypoplasia affecting the eye
synonym: "Absent/small eye" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped eye" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024745
is_a: HP:0012372 ! Abnormal eye morphology
created_by: peter
creation_date: 2008-04-02T03:25:00Z

[Term]
id: HP:0008057
name: Aplasia/Hypoplasia affecting the fundus
synonym: "Absent/small fundus" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432]
xref: UMLS:C4024744
is_a: HP:0001098 ! Abnormal fundus morphology
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
created_by: peter
creation_date: 2008-04-02T03:27:00Z

[Term]
id: HP:0008058
name: Aplasia/Hypoplasia of the optic nerve
synonym: "Absent/small optic nerve" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped optic nerve" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024743
is_a: HP:0000587 ! Abnormality of the optic nerve
is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus
created_by: peter
creation_date: 2008-04-02T03:28:00Z

[Term]
id: HP:0008059
name: Aplasia/Hypoplasia of the macula
synonym: "Absent/underdeveloped macula" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024742
is_a: HP:0001103 ! Abnormal macular morphology
is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina
created_by: peter
creation_date: 2008-04-02T03:29:00Z

[Term]
id: HP:0008060
name: Aplasia/Hypoplasia of the fovea
def: "Congenital absence or underdevelopment of the fovea centralis." [HPO:probinson]
synonym: "Absent/underdeveloped fovea" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024741
is_a: HP:0000493 ! Abnormal foveal morphology
is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula
created_by: peter
creation_date: 2008-04-02T03:30:00Z

[Term]
id: HP:0008061
name: Aplasia/Hypoplasia of the retina
synonym: "Absent/small retina" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped retina" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024740
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus
created_by: peter
creation_date: 2008-04-02T03:30:00Z

[Term]
id: HP:0008062
name: Aplasia/Hypoplasia affecting the anterior segment of the eye
def: "Absence or underdevelopment of the anterior segment of the eye." [HPO:probinson]
xref: UMLS:C4024739
is_a: HP:0007700 ! Ocular anterior segment dysgenesis
is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye
created_by: peter
creation_date: 2008-04-02T03:33:00Z

[Term]
id: HP:0008063
name: Aplasia/Hypoplasia of the lens
def: "Absence or underdevelopment of the lens." [HPO:probinson]
synonym: "Absent/small lens" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped lens" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024738
is_a: HP:0000517 ! Abnormality of the lens
is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye
created_by: peter
creation_date: 2008-04-02T03:33:00Z

[Term]
id: HP:0008064
name: Ichthyosis
alt_id: HP:0000955
alt_id: HP:0007547
def: "An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization." [HPO:probinson]
comment: The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder.
subset: hposlim_core
synonym: "Hypertrophic ichthyosis" RELATED []
synonym: "Ichthyosiform abnormality of the skin" EXACT []
synonym: "Ichthyotic skin" EXACT []
xref: MEDDRA:10021198 "Ichthyosis"
xref: MSH:D007057
xref: UMLS:C0020757
is_a: HP:0011368 ! Epidermal thickening
created_by: peter
creation_date: 2008-04-02T03:41:00Z

[Term]
id: HP:0008065
name: Aplasia/Hypoplasia of the skin
synonym: "Absent/small skin" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024737
is_a: HP:0011355 ! Localized skin lesion
created_by: peter
creation_date: 2008-04-02T03:44:00Z

[Term]
id: HP:0008066
name: Abnormal blistering of the skin
alt_id: HP:0007467
alt_id: HP:0007496
alt_id: HP:0200038
def: "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." [HPO:probinson]
comment: A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm.
synonym: "Abnormal blistering of the skin" EXACT layperson []
synonym: "Blistering, generalized" EXACT layperson []
synonym: "Blisters" EXACT layperson []
synonym: "Skin blisters" RELATED layperson [HPO:skoehler]
synonym: "Skin bullae" EXACT []
xref: UMLS:C0241054
xref: UMLS:C2132198
xref: UMLS:C2220104
is_a: HP:0011121 ! Abnormality of skin morphology
created_by: peter
creation_date: 2008-04-02T03:54:00Z

[Term]
id: HP:0008067
name: Abnormally lax or hyperextensible skin
synonym: "Abnormally loose or hyperelastic skin" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormally loose or stretchable skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024736
is_a: HP:0010647 ! Abnormal elasticity of skin
created_by: peter
creation_date: 2008-04-02T03:56:00Z

[Term]
id: HP:0008069
name: Neoplasm of the skin
def: "A tumor (abnormal growth of tissue) of the skin." [HPO:probinson]
subset: hposlim_core
synonym: "Dermatological tumors" EXACT [HPO:sdoelken]
synonym: "Neoplasia of the skin" RELATED []
synonym: "Skin cancer" RELATED layperson [HPO:skoehler]
synonym: "Skin cancer (non-melanoma)" BROAD layperson []
synonym: "Skin tumors" EXACT layperson []
synonym: "Tumor of the skin" EXACT layperson []
xref: MSH:D012878
xref: NCIT:C3262
xref: SNOMEDCT_US:126488004
xref: SNOMEDCT_US:372130007
xref: UMLS:C0007114
xref: UMLS:C0037286
is_a: HP:0000951 ! Abnormality of the skin
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: peter
creation_date: 2008-04-02T04:01:00Z

[Term]
id: HP:0008070
name: Sparse hair
alt_id: HP:0002237
alt_id: HP:0002291
alt_id: HP:0004522
alt_id: HP:0004538
def: "Reduced density of hairs." [HPO:probinson]
comment: This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter.
synonym: "Sparse hair" EXACT layperson []
synonym: "Thin, sparse hair" RELATED layperson [HPO:skoehler]
xref: UMLS:C1837770
xref: UMLS:C1860844
is_a: HP:0011357 ! Abnormality of hair density
created_by: peter
creation_date: 2008-04-02T04:11:00Z

[Term]
id: HP:0008071
name: Maternal hypertension
def: "Increased blood pressure during a pregnancy." [HPO:sdoelken]
xref: SNOMEDCT_US:288250001
xref: UMLS:C0565599
is_a: HP:0100603 ! Toxemia of pregnancy

[Term]
id: HP:0008072
name: Maternal virilization in pregnancy
def: "Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum." [HPO:probinson]
xref: UMLS:C4024735
is_a: HP:0002686 ! Prenatal maternal abnormality

[Term]
id: HP:0008073
name: Low maternal serum estriol
def: "An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age." [pmid:19038077]
synonym: "Low maternal serum estriol" EXACT layperson []
xref: UMLS:C4024734
is_a: HP:0011436 ! Abnormal maternal serum screening

[Term]
id: HP:0008074
name: Metatarsal periosteal thickening
xref: UMLS:C1834349
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0008075
name: Progressive pes cavus
def: "The development of Pes cavus that is progressive with age." [HPO:probinson]
xref: UMLS:C1846017
is_a: HP:0001761 ! Pes cavus

[Term]
id: HP:0008076
name: Osteoporotic tarsals
def: "Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson]
xref: UMLS:C1836872
is_a: HP:0009132 ! Abnormal tarsal bone mineral density

[Term]
id: HP:0008078
name: Thin metatarsal cortices
xref: UMLS:C1850162
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008079
name: Absent fifth metatarsal
alt_id: HP:0010670
def: "A developmental abnormality characterized by the absence of the fifth metatarsal bone." [HPO:probinson]
synonym: "Absent 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent 5th metatarsals" EXACT []
synonym: "Aplasia of the fifth metatarsal bone" EXACT []
xref: UMLS:C1867932
is_a: HP:0010744 ! Absent metatarsal bone

[Term]
id: HP:0008080
name: Hallux varus
def: "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially." [HPO:curators]
synonym: "Medially deviated halluces" EXACT []
xref: MSH:D050488
xref: SNOMEDCT_US:274147008
xref: UMLS:C0546297
is_a: HP:0010051 ! Deviation of the hallux

[Term]
id: HP:0008081
name: Pes valgus
def: "An outward deviation of the foot at the talocalcaneal or subtalar joint." []
comment: Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body.
synonym: "Valgus foot deformity" EXACT []
xref: SNOMEDCT_US:249803006
xref: SNOMEDCT_US:275344002
xref: UMLS:C1578482
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0008082
name: Medial deviation of the foot
xref: UMLS:C2673401
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0008083
name: 2nd-5th toe middle phalangeal hypoplasia
synonym: "Underdeveloped 2nd-5th middle toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861376
is_a: HP:0003795 ! Short middle phalanx of toe

[Term]
id: HP:0008087
name: Nonossified fifth metatarsal
def: "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible." [HPO:probinson]
xref: UMLS:C1844712
is_a: HP:0008371 ! Abnormal metatarsal ossification

[Term]
id: HP:0008089
name: Abnormality of the fifth metatarsal bone
def: "An anomaly of the fifth metatarsal bone." [HPO:probinson]
synonym: "Abnormality of the 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024733
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008090
name: Ankylosis of feet small joints
xref: UMLS:C4024732
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0031013 ! Ankylosis

[Term]
id: HP:0008093
name: Short 4th toe
def: "Underdevelopment (hypoplasia) of the fourth toe." [HPO:probinson]
synonym: "Short 4th toe" EXACT layperson []
synonym: "Short fourth toe" EXACT layperson []
xref: UMLS:C1862083
is_a: HP:0001831 ! Short toe

[Term]
id: HP:0008094
name: Widely spaced toes
alt_id: HP:0008077
def: "An overall widening of the spaces between the digits." [HPO:probinson, pmid:19125433]
comment: This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap).
synonym: "Widely spaced toes" EXACT layperson []
xref: UMLS:C1969238
is_a: HP:0001780 ! Abnormality of toe

[Term]
id: HP:0008095
name: Osteolysis of talus
def: "Osteolysis affecting the talus." [HPO:sdoelken]
synonym: "Osteolysis of tali" EXACT []
xref: UMLS:C4021556
is_a: HP:0008365 ! Abnormality of the talus
is_a: HP:0009134 ! Osteolysis involving bones of the feet

[Term]
id: HP:0008096
name: Medially deviated second toe
def: "Medial deviation of the second toe." [HPO:probinson]
xref: UMLS:C1862147
is_a: HP:0010326 ! Deviation of the 2nd toe

[Term]
id: HP:0008097
name: Partial fusion of tarsals
xref: UMLS:C1844520
is_a: HP:0008368 ! Tarsal synostosis

[Term]
id: HP:0008102
name: Expanded metatarsals with widened medullary cavities
xref: UMLS:C1969289
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008103
name: Delayed tarsal ossification
alt_id: HP:0008145
def: "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson]
synonym: "Delayed ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Tarsal delayed ossification" EXACT []
xref: UMLS:C1846853
xref: UMLS:C4280418
is_a: HP:0008369 ! Abnormal tarsal ossification

[Term]
id: HP:0008107
name: Plantar crease between first and second toes
def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe." [HPO:probinson]
xref: UMLS:C1867132
is_a: HP:0001869 ! Deep plantar creases

[Term]
id: HP:0008108
name: Advanced tarsal ossification
alt_id: HP:0008137
def: "Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson]
synonym: "Accelerated ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Precociously ossified tarsal bones" EXACT []
xref: UMLS:C1849293
xref: UMLS:C4280417
is_a: HP:0008369 ! Abnormal tarsal ossification

[Term]
id: HP:0008110
name: Equinovarus deformity
xref: MSH:D003025
xref: SNOMEDCT_US:249808002
xref: SNOMEDCT_US:397932003
xref: UMLS:C0009081
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0008111
name: Broad distal hallux
synonym: "Broad distal big toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1863403
is_a: HP:0010055 ! Broad hallux

[Term]
id: HP:0008112
name: Plantar flexion contractures
xref: UMLS:C1861239
is_a: HP:0008366 ! Contractures involving the joints of the feet

[Term]
id: HP:0008113
name: Multiple plantar creases
xref: UMLS:C1861873
is_a: HP:0100872 ! Abnormality of the plantar skin of foot

[Term]
id: HP:0008114
name: Metatarsal diaphyseal endosteal sclerosis
def: "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones." [HPO:curators]
xref: UMLS:C1840420
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0100925 ! Sclerosis of foot bone

[Term]
id: HP:0008115
name: Clinodactyly of the 3rd toe
def: "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson]
synonym: "3rd toe clinodactyly" EXACT []
synonym: "Curvature of 3rd toe" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021555
xref: UMLS:C4280416
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010332 ! Deviation of the 3rd toe

[Term]
id: HP:0008116
name: Flexion limitation of toes
def: "Limitation of the ability to bend the toes." [HPO:probinson]
xref: UMLS:C4024731
is_a: HP:0001436 ! Abnormality of the foot musculature

[Term]
id: HP:0008117
name: Shortening of the talar neck
xref: UMLS:C1843985
is_a: HP:0008365 ! Abnormality of the talus

[Term]
id: HP:0008119
name: Deformed tarsal bones
synonym: "Deformed ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856746
is_a: HP:0001850 ! Abnormality of the tarsal bones

[Term]
id: HP:0008122
name: Calcaneonavicular fusion
def: "Synostosis of the calcaneus with the navicular bone." [HPO:probinson]
xref: UMLS:C4024730
is_a: HP:0008368 ! Tarsal synostosis

[Term]
id: HP:0008124
name: Talipes calcaneovarus
def: "A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus." [HPO:probinson]
xref: MSH:D000070558
xref: SNOMEDCT_US:30449003
xref: UMLS:C0265646
is_a: HP:0001883 ! Talipes

[Term]
id: HP:0008125
name: Second metatarsal posteriorly placed
xref: UMLS:C1859224
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008127
name: Bipartite calcaneus
alt_id: HP:0008104
alt_id: HP:0008130
alt_id: HP:0008146
def: "A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [HPO:probinson]
synonym: "Delayed coalescence of bipartite calcanei" EXACT []
synonym: "Delayed coalescence of calcaneal ossification centers" EXACT []
synonym: "Delayed fusion of bipartite calcanei" EXACT []
synonym: "Double calcaneal ossification center" EXACT []
synonym: "Extra calcaneal ossification center" EXACT []
xref: UMLS:C1835574
is_a: HP:0008364 ! Abnormality of the calcaneus

[Term]
id: HP:0008131
name: Tarsal stippling
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones." [HPO:probinson]
synonym: "Punctate calcifications of tarsals" EXACT []
synonym: "Punctate tarsal calcification" EXACT []
xref: UMLS:C1844848
is_a: HP:0008369 ! Abnormal tarsal ossification
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0031051 ! Tarsal sclerosis

[Term]
id: HP:0008132
name: Medial rotation of the medial malleolus
xref: UMLS:C3805726
is_a: HP:0001760 ! Abnormality of the foot

[Term]
id: HP:0008133
name: Distal tapering of metatarsals
xref: UMLS:C4024729
is_a: HP:0001832 ! Abnormal metatarsal morphology

[Term]
id: HP:0008134
name: Irregular tarsal ossification
alt_id: HP:0008140
def: "Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson]
synonym: "Irregular ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular tarsal centers" EXACT []
xref: UMLS:C4021554
xref: UMLS:C4280415
is_a: HP:0008369 ! Abnormal tarsal ossification

[Term]
id: HP:0008138
name: Equinus calcaneus
def: "Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees." [HPO:probinson]
synonym: "Equinus deformity of the calcaneus" EXACT []
synonym: "Hindfoot equinus" EXACT []
xref: UMLS:C1860449
is_a: HP:0008364 ! Abnormality of the calcaneus

[Term]
id: HP:0008141
name: Dislocation of toes
synonym: "Dislocation of toes" EXACT layperson []
xref: SNOMEDCT_US:263030002
xref: UMLS:C0434717
is_a: HP:0001780 ! Abnormality of toe
is_a: HP:0030311 ! Lower extremity joint dislocation

[Term]
id: HP:0008142
name: Delayed calcaneal ossification
def: "Delayed maturation and calcification of the calcaneus." [HPO:probinson]
synonym: "Delayed heel bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024728
xref: UMLS:C4280414
is_a: HP:0008103 ! Delayed tarsal ossification
is_a: HP:0008364 ! Abnormality of the calcaneus

[Term]
id: HP:0008144
name: Flattening of the talar dome
xref: UMLS:C1843986
is_a: HP:0001850 ! Abnormality of the tarsal bones

[Term]
id: HP:0008148
name: Impaired epinephrine-induced platelet aggregation
def: "Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine." [DDD:wouwehand]
xref: UMLS:C4024727
is_a: HP:0003540 ! Impaired platelet aggregation

[Term]
id: HP:0008150
name: Elevated serum transaminases during infections
def: "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections." [HPO:curators]
xref: UMLS:C1864179
is_a: HP:0002910 ! Elevated hepatic transaminase

[Term]
id: HP:0008151
name: Prolonged prothrombin time
alt_id: HP:0012201
def: "Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT." [HPO:probinson, PMID:26351955, PMID:29939529]
comment: The prothrombin time (PT) and the activated partial thromboplastin time (APTT) are the most requested tests to investigate patients with congenital or acquired coagulopathies and drug monitoring. They are defined as the time (seconds) needed to clot platelet-poor plasma upon addition of coagulation triggers, such as tissue factor in complex with phospholipids and calcium chloride (in the PT), or negatively charged phospholipids-activators and calcium chloride (in the APTT). They can hence be considered as global coagulation tests sensitive to deficiencies of many coagulation factors. In brief, they are both sensitive to factor X, V, II and fibrinogen, whereas the PT is only sensitive to factor VII deficiency and the APTT is sensitive to pre-kallikrein, high molecular weight kininogen (HMWK), factor XII, XI, IX and VIII deficiencies. Normal plasma in the PT clots approximately within 10-12 s upon triggering coagulation, and the normal reference range is (usually) narrow. PT results have been reported as clotting time, percentage activity, PT-ratio (patient-to-normal clotting time) and as international normalized ratio (INR). The INR scale has been devised to harmonize results stemming from different thromboplastins from patients on treatment with vitamin K antagonists. Some recommend abandoning the approach of using percentage activity to assess PR.
synonym: "Increased INR" EXACT HP:0045077 []
synonym: "increased international normalised ratio" EXACT HP:0045076 []
synonym: "Increased international normalized ratio" EXACT []
synonym: "Low factor II activity" EXACT []
synonym: "Prolonged PT" EXACT HP:0045077 []
synonym: "Reduced factor II activity" EXACT []
synonym: "Reduced prothrombin activity" EXACT []
xref: SNOMEDCT_US:409674002
xref: UMLS:C0151872
is_a: HP:0032199 ! Abnormal prothrombin time

[Term]
id: HP:0008153
name: Periodic hypokalemic paresis
def: "Episodes of muscle weakness associated with reduced levels of potassium in the blood." [HPO:probinson]
synonym: "Hypokalemic periodic paresis" EXACT []
xref: UMLS:C4021553
is_a: HP:0003768 ! Periodic paralysis

[Term]
id: HP:0008155
name: Mucopolysacchariduria
alt_id: HP:0003567
def: "Excessive amounts of mucopolysaccharide in the urine." [HPO:probinson]
comment: This finding is suggestive of the diagnosis of a mucopolysaccharidosis.
xref: UMLS:C4024726
is_a: HP:0003541 ! Urinary glycosaminoglycan excretion

[Term]
id: HP:0008158
name: Hyperapobetalipoproteinemia
def: "Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein." [HPO:probinson, pmid:6579550]
xref: MSH:D006950
xref: SNOMEDCT_US:238040008
xref: SNOMEDCT_US:299465007
xref: UMLS:C0020474
is_a: HP:0003119 ! Abnormal circulating lipid concentration

[Term]
id: HP:0008160
name: 3-hydroxydicarboxylic aciduria
def: "An increase in the level of 3-hydroxydicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024725
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0008161
name: Absent leukocyte alkaline phosphatase
def: "A decrease in alkaline phosphatase activity measured within leukocytes below detectable levels ." [HPO:probinson]
synonym: "Absent leukocyte ALP" EXACT HP:0045077 []
xref: UMLS:C4024724
is_a: HP:0004852 ! Reduced leukocyte alkaline phosphatase

[Term]
id: HP:0008162
name: Asymptomatic hyperammonemia
def: "An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy." [HPO:probinson]
synonym: "Hyperammonemia, asymptomatic" EXACT []
xref: UMLS:C4021552
is_a: HP:0001987 ! Hyperammonemia

[Term]
id: HP:0008163
name: Decreased circulating cortisol level
alt_id: HP:0000874
alt_id: HP:0003291
alt_id: HP:0004317
alt_id: HP:0008220
def: "Abnormally reduced concentration of cortisol in the blood." [HPO:probinson]
synonym: "Decreased cortisol production" EXACT []
synonym: "Glucocorticoid insufficiency" EXACT []
synonym: "Hypocortisolemia" EXACT []
synonym: "Hypocortisolism" RELATED []
synonym: "Low blood cortisol level" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Low to undetectable plasma cortisol" EXACT []
synonym: "Plasma cortisol low" EXACT []
xref: UMLS:C1833054
xref: UMLS:C1836623
xref: UMLS:C1846225
is_a: HP:0008207 ! Primary adrenal insufficiency
is_a: HP:0011731 ! Abnormality of circulating cortisol level

[Term]
id: HP:0008165
name: Decreased proportion circulating T-helper cells
def: "Reduced proportion of helper T cells relative to the total number of T cells." [HPO:probinson]
xref: UMLS:C4024723
is_a: HP:0005403 ! Decrease in T cell count

[Term]
id: HP:0008166
name: Decreased beta-galactosidase activity
alt_id: HP:0003644
alt_id: HP:0008300
def: "Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma." [HPO:gcarletti]
synonym: "Beta-galactosidase deficiency in fibroblasts and white blood cells" EXACT []
synonym: "Beta-galactosidase-1 deficiency" EXACT []
synonym: "Decreased beta galactosidase activity" EXACT []
xref: MSH:D016537
xref: SNOMEDCT_US:238025006
xref: UMLS:C0085131
xref: UMLS:C1854788
xref: UMLS:C1856559
is_a: HP:0004342 ! Abnormality of galactoside metabolism

[Term]
id: HP:0008167
name: Very long chain fatty acid accumulation
xref: UMLS:C3279397
is_a: HP:0032243 ! Abnormal tissue metabolite concentration

[Term]
id: HP:0008169
name: Reduced factor VII activity
def: "Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X." [HPO:probinson]
synonym: "Factor VII deficiency" RELATED []
xref: MSH:D005168
xref: SNOMEDCT_US:37193007
xref: UMLS:C0015503
xref: UMLS:C4024722
is_a: HP:0010988 ! Abnormality of the extrinsic pathway

[Term]
id: HP:0008176
name: Neonatal unconjugated hyperbilirubinemia
xref: SNOMEDCT_US:281611002
xref: UMLS:C0559506
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0008178
name: Abnormal cartilage matrix
xref: UMLS:C4024721
is_a: HP:0002763 ! Abnormal cartilage morphology

[Term]
id: HP:0008179
name: Decreased Arden ratio of electrooculogram
def: "An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record." [HPO:probinson]
synonym: "Decreased Arden ratio of EOG" EXACT HP:0045077 []
xref: UMLS:C4024720
is_a: HP:0030454 ! Abnormal electrooculogram

[Term]
id: HP:0008180
name: Mildly elevated creatine kinase
alt_id: HP:0003211
comment: 'has part' some \n('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal))
synonym: "Mildly elevated CPK" EXACT HP:0045077 []
synonym: "Mildly elevated creatine phosphokinase" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Mildly elevated serum CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Mildly elevated serum CPK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Mildly elevated serum phospho-CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Mildly increased creatine kinase" EXACT []
synonym: "Mildly increased serum creatine kinase" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Moderately elevated serum CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Moderately elevated serum CPK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Moderately increased serum creatine kinase" EXACT []
xref: UMLS:C1850309
is_a: HP:0003236 ! Elevated serum creatine kinase

[Term]
id: HP:0008181
name: Abetalipoproteinemia
def: "An absence of low-density lipoprotein cholesterol in the blood." [HPO:probinson]
comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol.
xref: MSH:D000012
xref: SNOMEDCT_US:190787008
xref: UMLS:C0000744
is_a: HP:0003563 ! Decreased LDL cholesterol concentration

[Term]
id: HP:0008182
name: Adrenocortical hypoplasia
synonym: "Small adrenal cortex" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024719
is_a: HP:0000849 ! Adrenocortical abnormality

[Term]
id: HP:0008185
name: Precocious puberty in males
def: "The onset of puberty before the age of 9 years in boys." [HPO:curators]
synonym: "Early onset of puberty in males" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Male precocious puberty" EXACT []
xref: UMLS:C1859979
is_a: HP:0000826 ! Precocious puberty

[Term]
id: HP:0008186
name: Adrenocortical cytomegaly
def: "The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex." [HPO:probinson]
comment: This feature is common in Beckwith Wiedemann syndrome.
xref: UMLS:C1851720
is_a: HP:0011732 ! Abnormality of adrenal morphology

[Term]
id: HP:0008187
name: Absence of secondary sex characteristics
alt_id: HP:0008674
def: "No secondary sexual characteristics are present at puberty." [HPO:probinson]
synonym: "No secondary sexual characteristics at puberty" EXACT []
xref: UMLS:C4021551
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0008188
name: Thyroid dysgenesis
synonym: "Thyroid dysplasia" EXACT []
xref: MSH:D050033
xref: UMLS:C1563716
is_a: HP:0011772 ! Abnormality of thyroid morphology

[Term]
id: HP:0008189
name: Insulin insensitivity
def: "Decreased sensitivity toward insulin." [HPO:probinson]
xref: UMLS:C1864570
is_a: HP:0011014 ! Abnormal glucose homeostasis

[Term]
id: HP:0008191
name: Thyroid agenesis
def: "The congenital absence of the thyroid gland." [HPO:probinson, pmid:2918525]
synonym: "Athyroidal hypothyroidism" RELATED []
xref: MSH:D050033
xref: UMLS:C0749420
xref: UMLS:C4020805
is_a: HP:0008188 ! Thyroid dysgenesis

[Term]
id: HP:0008193
name: Primary gonadal insufficiency
xref: UMLS:C1859014
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0008194
name: Multiple pancreatic beta-cell adenomas
def: "The presence of multiple pancreatic islet cell adenomas." [HPO:probinsojn]
xref: UMLS:C4024718
is_a: HP:0008261 ! Pancreatic islet cell adenoma

[Term]
id: HP:0008197
name: Absence of pubertal development
xref: UMLS:C1846228
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0008198
name: Congenital hypoparathyroidism
alt_id: HP:0008199
alt_id: HP:0008201
def: "Deficiency of parathyroid hormone with congenital onset." [DDD:spark, HPO:probinson]
synonym: "Neonatal hypoparathyroidism" EXACT []
xref: UMLS:C1455734
is_a: HP:0000829 ! Hypoparathyroidism

[Term]
id: HP:0008200
name: Primary hyperparathyroidism
alt_id: HP:0008254
def: "A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia." [HPO:probinson]
xref: MSH:D049950
xref: SNOMEDCT_US:36348003
xref: UMLS:C0221002
is_a: HP:0000843 ! Hyperparathyroidism

[Term]
id: HP:0008202
name: Prolactin deficiency
def: "A reduced ability to secrete prolactin, a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production." [DDD:spark, HPO:probinson]
xref: MSH:C562708
xref: SNOMEDCT_US:67873006
xref: UMLS:C0271586
is_a: HP:0040086 ! Abnormal prolactin level

[Term]
id: HP:0008204
name: Precocious puberty with Sertoli cell tumor
xref: UMLS:C1868007
is_a: HP:0000826 ! Precocious puberty
is_a: HP:0100619 ! Sertoli cell neoplasm

[Term]
id: HP:0008205
name: Insulin-dependent but ketosis-resistant diabetes
def: "Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin." [HPO:probinson]
xref: UMLS:C1842404
is_a: HP:0005978 ! Type II diabetes mellitus

[Term]
id: HP:0008207
name: Primary adrenal insufficiency
alt_id: HP:0000862
alt_id: HP:0008219
alt_id: HP:0008252
def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." [HPO:probinson]
comment: Deficiency of both glucocorticoids and mineralocorticoids.
synonym: "Addison disease" RELATED []
synonym: "Addison's disease" RELATED []
synonym: "Adrenocortical insufficiency" EXACT []
synonym: "Primary adrenocortical failure" EXACT []
xref: MSH:D000224
xref: SNOMEDCT_US:363732003
xref: SNOMEDCT_US:373662000
xref: SNOMEDCT_US:386584007
xref: UMLS:C0001403
xref: UMLS:C0405580
is_a: HP:0000846 ! Adrenal insufficiency

[Term]
id: HP:0008208
name: Parathyroid hyperplasia
def: "Hyperplasia of the parathyroid gland." [HPO:probinson]
comment: An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands.
synonym: "Enlarged parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:9092004
xref: UMLS:C0271844
is_a: HP:0011766 ! Abnormality of the parathyroid morphology

[Term]
id: HP:0008209
name: Premature ovarian insufficiency
alt_id: HP:0001587
alt_id: HP:0100805
def: "Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea." [HPO:probinson]
comment: The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years).
synonym: "Climacterium praecox" EXACT []
synonym: "Early menopause" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypergonadotropic amenorrhea" EXACT []
synonym: "Menopause praecox" EXACT []
synonym: "Premature menopause" EXACT layperson []
synonym: "Premature ovarian failure" EXACT layperson []
synonym: "Primary ovarian insufficiency" EXACT []
xref: MSH:D008594
xref: MSH:D016649
xref: SNOMEDCT_US:373717006
xref: UMLS:C0025322
xref: UMLS:C0085215
is_a: HP:0031066 ! Abnormal ovarian physiology

[Term]
id: HP:0008211
name: Parathyroid agenesis
def: "Aplasia of the parathyroid gland." [HPO:probinson]
synonym: "Parathyroid absence" EXACT []
synonym: "Parathyroid aplasia" EXACT []
xref: MSH:C563238
xref: SNOMEDCT_US:73291005
xref: UMLS:C1321907
is_a: HP:0011768 ! Parathyroid dysgenesis

[Term]
id: HP:0008213
name: Gonadotropin deficiency
alt_id: HP:0008192
def: "A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH)." [DDD:spark]
synonym: "Pituitary gonadotropin deficiency" EXACT []
xref: MSH:D007006
xref: SNOMEDCT_US:33927004
xref: UMLS:C0271623
is_a: HP:0000830 ! Anterior hypopituitarism

[Term]
id: HP:0008214
name: Decreased serum estradiol
def: "A reduction below normal concentration of estradiol in the circulation." []
synonym: "Decreased serum estradiol" EXACT layperson []
xref: SNOMEDCT_US:166449002
xref: UMLS:C0241011
is_a: HP:0025133 ! Abnormal serum estradiol

[Term]
id: HP:0008216
name: Adrenal gland dysgenesis
def: "Abnormal development of the adrenal gland." [DDD:spark]
synonym: "Adrenal gland dysplasia" EXACT []
synonym: "Dysplastic adrenal glands" EXACT []
xref: UMLS:C1856017
is_a: HP:0011732 ! Abnormality of adrenal morphology

[Term]
id: HP:0008221
name: Adrenal hyperplasia
def: "Enlargement of the adrenal gland." [DDD:spark]
synonym: "Enlarged adrenal glands" EXACT layperson []
xref: SNOMEDCT_US:419920004
xref: UMLS:C1621895
is_a: HP:0011732 ! Abnormality of adrenal morphology

[Term]
id: HP:0008222
name: Female infertility
synonym: "Female infertility" EXACT layperson []
xref: MSH:D007247
xref: SNOMEDCT_US:6738008
xref: UMLS:C0021361
is_a: HP:0000789 ! Infertility
is_a: HP:0000868 ! Decreased fertility in females

[Term]
id: HP:0008223
name: Compensated hypothyroidism
xref: SNOMEDCT_US:237523006
xref: UMLS:C0342162
is_a: HP:0000821 ! Hypothyroidism

[Term]
id: HP:0008225
name: Thyroid follicular hyperplasia
xref: UMLS:C1969546
is_a: HP:0008249 ! Thyroid hyperplasia

[Term]
id: HP:0008226
name: Androgen insufficiency
def: "Insufficient amount of androgenic activity." [HPO:probinson]
synonym: "Hypoandrogenism" EXACT []
xref: SNOMEDCT_US:38825009
xref: UMLS:C0342527
is_a: HP:0008373 ! Puberty and gonadal disorders

[Term]
id: HP:0008227
name: Pituitary resistance to thyroid hormone
def: "A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal." [HPO:curators]
xref: SNOMEDCT_US:360348000
xref: SNOMEDCT_US:360353005
xref: UMLS:C0342198
is_a: HP:0011747 ! Abnormality of the anterior pituitary

[Term]
id: HP:0008229
name: Thyroid lymphangiectasia
alt_id: HP:0008235
def: "The presence of lymphangiectasis of the thyroid gland." [HPO:probinson]
comment: A stretching and widening of the lymphatic vessels of the thyroid gland.
synonym: "Thyroid lymphangiectasis" EXACT []
xref: UMLS:C1856129
is_a: HP:0011772 ! Abnormality of thyroid morphology
is_a: HP:0031842 ! Lymphangiectasis

[Term]
id: HP:0008230
name: obsolete Decreased testosterone in males
is_obsolete: true
replaced_by: HP:0040171
created_by: HPO:skoehler

[Term]
id: HP:0008231
name: Macronodular adrenal hyperplasia
xref: SNOMEDCT_US:237778003
xref: UMLS:C0342495
is_a: HP:0008221 ! Adrenal hyperplasia

[Term]
id: HP:0008232
name: Elevated circulating follicle stimulating hormone level
alt_id: HP:0008324
def: "An elevated concentration of follicle-stimulating hormone in the blood." [HPO:probinson]
synonym: "Elevated follicle stimulating hormone" EXACT []
synonym: "Elevated follicle-stimulating hormone" EXACT []
synonym: "Elevated FSH level" EXACT HP:0045077 []
synonym: "Elevated plasma follicle stimulating hormone" EXACT []
synonym: "Increased circulating follicle stimulating hormone level" EXACT []
xref: UMLS:C4021550
is_a: HP:0000837 ! Increased circulating gonadotropin level
is_a: HP:0030346 ! Abnormal circulating follicle-stimulating hormone level

[Term]
id: HP:0008233
name: Decreased circulating progesterone
def: "An reduced concentration of progesterone in the blood." []
comment: Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle.
synonym: "Decreased serum progesterone" EXACT layperson []
xref: UMLS:C1858995
is_a: HP:0031212 ! Abnormal circulating progesterone level

[Term]
id: HP:0008236
name: Isosexual precocious puberty
xref: SNOMEDCT_US:4294006
xref: UMLS:C0271528
is_a: HP:0000826 ! Precocious puberty

[Term]
id: HP:0008237
name: Hypothalamic hypothyroidism
def: "A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity." [HPO:probinson, pmid:18731015]
comment: The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism.\nTRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease.
synonym: "Tertiary hypothyroidism" EXACT []
xref: SNOMEDCT_US:37429009
xref: UMLS:C0220998
is_a: HP:0011787 ! Central hypothyroidism
is_a: HP:0012285 ! Abnormal hypothalamus physiology

[Term]
id: HP:0008239
name: Adrenal medullary hypoplasia
def: "Developmental hypoplasia of the adrenal medulla." [HPO:probinson]
synonym: "Small adrenal medulla" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024717
is_a: HP:0000835 ! Adrenal hypoplasia

[Term]
id: HP:0008240
name: Secondary growth hormone deficiency
xref: UMLS:C4024716
is_a: HP:0000824 ! Growth hormone deficiency

[Term]
id: HP:0008242
name: Pseudohypoaldosteronism
alt_id: HP:0008228
def: "A state of renal tubular unresponsiveness or resistance to the action of aldosterone." [HPO:probinson]
comment: Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism.
xref: MSH:D011546
xref: SNOMEDCT_US:77098009
xref: UMLS:C0033805
is_a: HP:0011733 ! Abnormality of adrenal physiology

[Term]
id: HP:0008244
name: Congenital adrenal hypoplasia
alt_id: HP:0008246
def: "A type of adrenal hypoplasia with congenital onset." [HPO:probinson]
synonym: "Congenital adrenal gland hypoplasia" EXACT []
xref: SNOMEDCT_US:93235007
xref: UMLS:C0220766
is_a: HP:0000835 ! Adrenal hypoplasia

[Term]
id: HP:0008245
name: Pituitary hypothyroidism
alt_id: HP:0008248
def: "A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion." [HPO:probinson]
synonym: "Low thyroid gland function due to abnormal pituitary gland" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Secondary hypothyroidism" EXACT []
synonym: "Thyroid stimulating hormone deficiency" EXACT []
synonym: "Thyrotropin deficiency" EXACT []
synonym: "TSH deficient hypothyroidism" EXACT []
xref: SNOMEDCT_US:82598004
xref: UMLS:C3665349
is_a: HP:0000830 ! Anterior hypopituitarism
is_a: HP:0011787 ! Central hypothyroidism

[Term]
id: HP:0008247
name: Euthyroid hyperthyroxinemia
alt_id: HP:0008212
def: "An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease." [eMedicine:118562, HPO:probinson]
comment: Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone.
synonym: "Asymptomatic hyperthyroxinemia" EXACT []
xref: UMLS:C4021549
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0008249
name: Thyroid hyperplasia
def: "Hyperplasia of the thyroid gland." [HPO:probinson]
synonym: "Large thyroid" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1112776
is_a: HP:0011772 ! Abnormality of thyroid morphology

[Term]
id: HP:0008250
name: Infantile hypercalcemia
xref: MSH:C562999
xref: SNOMEDCT_US:276645004
xref: UMLS:C0475732
is_a: HP:0003072 ! Hypercalcemia

[Term]
id: HP:0008251
name: Congenital goiter
def: "An enlargement of the thyroid gland with congenital onset." [HPO:probinson]
xref: SNOMEDCT_US:276565004
xref: UMLS:C0349476
is_a: HP:0000853 ! Goiter

[Term]
id: HP:0008255
name: Transient neonatal diabetes mellitus
xref: SNOMEDCT_US:237603002
xref: UMLS:C0342273
is_a: HP:0000857 ! Neonatal insulin-dependent diabetes mellitus

[Term]
id: HP:0008256
name: Adrenocortical adenoma
alt_id: HP:0008196
def: "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:probinson, pmid:17287480]
synonym: "Adrenocortical adenomas" EXACT []
xref: MSH:D018246
xref: SNOMEDCT_US:18365006
xref: SNOMEDCT_US:255036008
xref: SNOMEDCT_US:302826002
xref: UMLS:C0206667
is_a: HP:0100641 ! Neoplasm of the adrenal cortex

[Term]
id: HP:0008258
name: Congenital adrenal hyperplasia
def: "A type of adrenal hyperplasia with congenital onset." [HPO:probinson]
xref: MSH:D000312
xref: SNOMEDCT_US:237751000
xref: UMLS:C0001627
is_a: HP:0008221 ! Adrenal hyperplasia

[Term]
id: HP:0008259
name: Adrenocorticotropin receptor defect
def: "Adrenal insufficiency secondary to a defect in the ACTH receptor." [DDD:spark]
synonym: "ACTH receptor defect" EXACT []
synonym: "ACTHR defect" EXACT []
synonym: "Adrenocorticotropic hormone-resistant adrenal insufficiency" EXACT []
xref: UMLS:C4021548
is_a: HP:0011734 ! Central adrenal insufficiency

[Term]
id: HP:0008261
name: Pancreatic islet cell adenoma
def: "The presence of an adenoma of the pancreas with origin in a pancreatic B cell." [HPO:probinson]
xref: UMLS:C1851697
is_a: HP:0002894 ! Neoplasm of the pancreas
is_a: HP:0006476 ! Abnormality of the pancreatic islet cells
is_a: HP:0030405 ! Pancreatic endocrine tumor

[Term]
id: HP:0008263
name: Thyroid defect in oxidation and organification of iodide
xref: UMLS:C1848800
is_a: HP:0002926 ! Abnormality of thyroid physiology

[Term]
id: HP:0008264
name: Neutrophil inclusion bodies
alt_id: HP:0001932
def: "The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies." [HPO:probinson]
xref: UMLS:C4021547
is_a: HP:0011992 ! Abnormality of neutrophil morphology

[Term]
id: HP:0008265
name: Mitochondrial lysine transport defect
xref: UMLS:C4024715
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0008269
name: Increased red cell hemolysis by shear stress
xref: UMLS:C3806125
is_a: HP:0001878 ! Hemolytic anemia

[Term]
id: HP:0008271
name: Abnormal cartilage collagen
def: "Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix." [HPO:probinson, pmid:11879535, pmid:7757081, pmid:9468540]
synonym: "Abnormal hyaline collagen" RELATED []
synonym: "Abnormal type II collagen" RELATED []
xref: UMLS:C4020803
xref: UMLS:C4020804
xref: UMLS:C4021847
is_a: HP:0002763 ! Abnormal cartilage morphology

[Term]
id: HP:0008272
name: Renal tubular lysine transport defect
xref: UMLS:C4024714
is_a: HP:0000124 ! Renal tubular dysfunction

[Term]
id: HP:0008273
name: Transient aminoaciduria
xref: UMLS:C4024713
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0008275
name: Abnormal light-adapted electroretinogram
synonym: "Abnormal cone-mediated electroretinogram" EXACT []
xref: UMLS:C4024712
is_a: HP:0030466 ! Abnormal full-field electroretinogram

[Term]
id: HP:0008277
name: Abnormal blood zinc concentration
def: "An abnormality of zinc ion homeostasis." [HPO:probinson]
synonym: "Abnormal zinc metabolism" RELATED []
synonym: "Abnormality of zinc homeostasis" EXACT []
xref: UMLS:C4020802
xref: UMLS:C4024711
is_a: HP:0011030 ! Abnormal blood transition element cation concentration

[Term]
id: HP:0008278
name: Cerebellar cortical atrophy
def: "Atrophy (wasting) of the cerebellar cortex." [HPO:probinson]
comment: Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells.
synonym: "Cerebellar cortex degeneration" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024710
is_a: HP:0001272 ! Cerebellar atrophy

[Term]
id: HP:0008279
name: Transient hyperlipidemia
xref: UMLS:C1850722
is_a: HP:0003077 ! Hyperlipidemia

[Term]
id: HP:0008281
name: Acute hyperammonemia
def: "An increased concentration of ammonia in the blood with sudden onset." [HPO:probinson]
synonym: "Hyperammonemia, acute" EXACT []
xref: UMLS:C1859506
is_a: HP:0001987 ! Hyperammonemia

[Term]
id: HP:0008282
name: Unconjugated hyperbilirubinemia
alt_id: HP:0008289
def: "An increased amount of unconjugated (indirect) bilurubin in the blood." [HPO:probinson]
xref: SNOMEDCT_US:7752002
xref: UMLS:C0268306
is_a: HP:0002904 ! Hyperbilirubinemia

[Term]
id: HP:0008283
name: Fasting hyperinsulinemia
def: "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake." [HPO:probinson]
synonym: "High blood insulin levels while fasting" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1864954
is_a: HP:0000842 ! Hyperinsulinemia

[Term]
id: HP:0008285
name: Transient hypophosphatemia
xref: UMLS:C4024709
is_a: HP:0002148 ! Hypophosphatemia

[Term]
id: HP:0008288
name: Nonketotic hyperglycinemia
xref: MSH:D020158
xref: SNOMEDCT_US:237939006
xref: UMLS:C0751748
is_a: HP:0002154 ! Hyperglycinemia

[Term]
id: HP:0008290
name: Partial complement factor H deficiency
def: "A partial reduction in level of the complement component Factor H in circulation." [https://emedicine.medscape.com/article/135478-overview]
xref: UMLS:C4024708
is_a: HP:0005369 ! Decreased serum complement factor H

[Term]
id: HP:0008291
name: Pituitary corticotropic cell adenoma
def: "A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH)." [DDD:spark, HPO:probinson]
synonym: "ACTH-producing pituitary adenoma" EXACT []
synonym: "Corticotropin-secreting pituitary adenoma" EXACT []
xref: MSH:D049913
xref: SNOMEDCT_US:21109002
xref: SNOMEDCT_US:254958004
xref: UMLS:C1306214
is_a: HP:0002893 ! Pituitary adenoma

[Term]
id: HP:0008293
name: Long-chain dicarboxylic aciduria
def: "An increase in the level of long-chain dicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432]
xref: UMLS:C1837273
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0008297
name: Transient hyperphenylalaninemia
def: "A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine)." [HPO:probinson]
xref: SNOMEDCT_US:28575006
xref: UMLS:C0268464
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration

[Term]
id: HP:0008301
name: Dermatan sulfate excretion in urine
def: "An increased concentration of dermatan sulfate in the urine." [HPO:gcarletti]
comment: Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs.
xref: UMLS:C1854774
is_a: HP:0008155 ! Mucopolysacchariduria

[Term]
id: HP:0008303
name: Olivary degeneration
def: "Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata." [HPO:probinson]
xref: UMLS:C4024707
is_a: HP:0011441 ! Abnormality of the medulla oblongata

[Term]
id: HP:0008305
name: Exercise-induced myoglobinuria
alt_id: HP:0008319
def: "Presence of myoglobin in the urine following exercise." [HPO:probinson]
synonym: "Exercise-induced myoglobinuria in adults" RELATED []
xref: UMLS:C1845155
xref: UMLS:C1860069
is_a: HP:0002913 ! Myoglobinuria

[Term]
id: HP:0008306
name: Abnormal iron deposition in mitochondria
xref: UMLS:C3151556
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0008309
name: Medium chain dicarboxylic aciduria
def: "An increase in the level of medium chain dicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432]
xref: UMLS:C1860081
is_a: HP:0003215 ! Dicarboxylic aciduria

[Term]
id: HP:0008311
name: Spinal cord posterior columns myelin loss
xref: UMLS:C4024706
is_a: HP:0002143 ! Abnormality of the spinal cord
is_a: HP:0007305 ! CNS demyelination

[Term]
id: HP:0008314
name: Decreased activity of mitochondrial complex II
def: "A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria." [HPO:probinson]
synonym: "Respiratory complex II deficiency" RELATED []
xref: UMLS:C4020801
xref: UMLS:C4024705
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain

[Term]
id: HP:0008315
name: Decreased plasma free carnitine
def: "A decreased concentration of free (unbound) carnitine in the blood." [HPO:probinson]
xref: UMLS:C4015009
is_a: HP:0003234 ! Decreased plasma carnitine

[Term]
id: HP:0008316
name: Abnormal mitochondria in muscle tissue
def: "An abnormality of the mitochondria in muscle tissue." [HPO:probinson]
comment: This finding is typically demonstrated by muscle biopsy.
synonym: "Abnormal mitochondria in muscle" EXACT []
xref: UMLS:C4021546
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0008318
name: Elevated leukocyte alkaline phosphatase
def: "An increased alkaline phosphatase activity measured within leukocytes." [HPO:probinson]
synonym: "Elevated leukocyte ALP" EXACT HP:0045077 []
xref: UMLS:C4024704
is_a: HP:0003155 ! Elevated alkaline phosphatase

[Term]
id: HP:0008320
name: Impaired collagen-induced platelet aggregation
def: "Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics." [DDD:kfreson]
xref: UMLS:C4024703
is_a: HP:0003540 ! Impaired platelet aggregation

[Term]
id: HP:0008321
name: Reduced factor X activity
def: "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)." [HPO:probinson]
synonym: "Decreased factor x activity" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Factor X deficiency" RELATED []
xref: MSH:D005171
xref: SNOMEDCT_US:76642003
xref: UMLS:C0015519
xref: UMLS:C4024702
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0008322
name: Abnormal mitochondrial morphology
def: "Any structural anomaly of the mitochondria." [HPO:probinson]
comment: This feature may be assessed by means of electron microscopy.
synonym: "Abnormal mitochondrion morphology" EXACT []
xref: UMLS:C4014650
is_a: HP:0012103 ! Abnormality of the mitochondrion

[Term]
id: HP:0008323
name: Abnormal light- and dark-adapted electroretinogram
def: "An abnormality of the combined rod-and-code response on electroretinogram." [HPO:probinson]
comment: The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response.
synonym: "Abnormal rod and cone electroretinogram" EXACT []
xref: UMLS:C3151111
is_a: HP:0030466 ! Abnormal full-field electroretinogram

[Term]
id: HP:0008326
name: Reduced circulating vitamin B6 level
def: "An abnormally decreased concentration of vitamin B6 in the blood circulation." []
synonym: "Reduced vitamin b6 levels" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Vitamin B6 deficiency" EXACT layperson []
xref: MSH:D026681
xref: SNOMEDCT_US:386080007
xref: UMLS:C0936215
is_a: HP:0032476 ! Abnormal circulating vitamin B6 level

[Term]
id: HP:0008327
name: Microscopic nephrocalcinosis
def: "The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma." [HPO:probinson]
comment: The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis).
xref: SNOMEDCT_US:236444003
xref: UMLS:C0403474
is_a: HP:0000121 ! Nephrocalcinosis

[Term]
id: HP:0008330
name: Reduced von Willebrand factor activity
def: "Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [HPO:probinson, pmid:19694940]
comment: Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA).
synonym: "Decreased von willebrand factor activity" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024701
is_a: HP:0012146 ! Abnormality of von Willebrand factor

[Term]
id: HP:0008331
name: Elevated creatine kinase after exercise
synonym: "Elevated CK after exercise" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Elevated CPK after exercise" EXACT HP:0045077 []
synonym: "Elevated creatine phosphokinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, ORCID:0000-0001-6908-9849]
synonym: "Elevated phospho-CK after exercise" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Elevated phospho-creatine kinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, ORCID:0000-0001-6908-9849]
synonym: "Increased CK after exercise" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Increased creatine kinase after exercise" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Increased creatine phosphokinase after exercise" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Increased phospho-CK after exercise" EXACT [http://purl.obolibrary.org/obo/HP_0045077, https://orcid.org/0000-0001-7941-2961]
synonym: "Increased phospho-creatine kinase after exercise" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024700
is_a: HP:0003236 ! Elevated serum creatine kinase

[Term]
id: HP:0008335
name: Renal aminoaciduria
def: "An increased concentration of an amino acid in the urine, due to a decreased kidney functionality ." [HPO:gcarletti, HPO:probinson]
comment: Renal aminoaciduria is characterized by the abnormally elevated levels of amino acids in the urine, and is usually related to genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. This term does not refer directly to the group of corresponding disease entities but rather to the finding of elevated levels of amino acids in the urine which is inferred to be related to a renal defect rather than to a primary defect of aminoacid metabolism on the basis of other findings.
xref: MSH:D000608
xref: UMLS:C0002534
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0008336
name: Complex organic aciduria
xref: UMLS:C3151953
is_a: HP:0001992 ! Organic aciduria
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0008338
name: Partial functional complement factor D deficiency
def: "A partial reduction in level of the complement component Factor D in circulation." []
synonym: "Partial functional adipsin deficiency" EXACT [https://en.wikipedia.org/wiki/Factor_D, ORCID:0000-0001-6908-9849]
synonym: "Partial functional factor d deficiency" EXACT [https://en.wikipedia.org/wiki/factor_d, ORCID:0000-0001-6908-9849]
xref: UMLS:C4024699
is_a: HP:0004431 ! Complement deficiency

[Term]
id: HP:0008339
name: Diaminoaciduria
xref: UMLS:C4024698
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0008341
name: Distal renal tubular acidosis
def: "A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia." [HPO:probinson]
synonym: "Renal tubular acidosis, type I" EXACT []
xref: MSH:D000141
xref: SNOMEDCT_US:236461000
xref: SNOMEDCT_US:86210009
xref: UMLS:C1704380
is_a: HP:0001947 ! Renal tubular acidosis

[Term]
id: HP:0008344
name: Elevated plasma branched chain amino acids
def: "An increased concentration of a branched chain amino acid in the blood." [HPO:gcarletti]
xref: UMLS:C4024697
is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration

[Term]
id: HP:0008345
name: Hypoplasia of the iris dilator muscle
def: "Underdevelopment of the dilatator pupillae." [HPO:probinson]
synonym: "Hypoplasia of the pupil dilator muscle" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Underdeveloped iris dilator muscle" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Underdeveloped pupil dilator muscle" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024696
is_a: HP:0007676 ! Hypoplasia of the iris

[Term]
id: HP:0008346
name: Increased red cell sickling tendency
synonym: "Increased sickling of erythrocytes" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Increased sickling of red cells" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024695
is_a: HP:0011895 ! Anemia due to reduced life span of red cells

[Term]
id: HP:0008347
name: Decreased activity of mitochondrial complex IV
def: "A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria." [HPO:probinson]
synonym: "Respiratory complex IV deficiency" RELATED []
xref: UMLS:C4020800
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain

[Term]
id: HP:0008348
name: Decreased circulating IgG2 level
alt_id: HP:0008310
def: "A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation." [HPO:probinson]
synonym: "Immunoglobulin IgG2 deficiency" EXACT []
synonym: "Reduced IgG2 levels" EXACT []
xref: UMLS:C4021545
is_a: HP:0032135 ! Decreased circulating IgG subclass level

[Term]
id: HP:0008352
name: Impaired platelet adhesion
def: "An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation." [HPO:probinson]
synonym: "Impaired thrombocytes adhesion" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024694
is_a: HP:0011869 ! Abnormal platelet function

[Term]
id: HP:0008353
name: Neutral hyperaminoaciduria
def: "The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine." [PMID:30177408]
xref: UMLS:C1856194
is_a: HP:0003355 ! Aminoaciduria

[Term]
id: HP:0008354
name: Factor X activation deficiency
def: "Reduced ability to transform factor X into its activated form factor Xa." [HPO:probinson]
xref: UMLS:C4024693
is_a: HP:0008321 ! Reduced factor X activity

[Term]
id: HP:0008356
name: obsolete Combined hyperlipidemia
is_obsolete: true
consider: HP:0003077

[Term]
id: HP:0008357
name: Reduced factor XIII activity
def: "Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot." [HPO:probinson]
xref: UMLS:C4024692
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0008358
name: Hyperprolinemia
def: "An increased concentration of proline in the blood." [HPO:gcarletti]
synonym: "Prolinemia" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:59655002
xref: UMLS:C0268528
is_a: HP:0010907 ! Abnormal circulating proline concentration

[Term]
id: HP:0008360
name: Neonatal hypoproteinemia
def: "A neonatal decreased concentration of proteins in the blood." [HPO:gcarletti]
xref: UMLS:C4024691
is_a: HP:0003075 ! Hypoproteinemia

[Term]
id: HP:0008361
name: Corticospinal tract pallor
xref: UMLS:C4024690
is_a: HP:0002492 ! Abnormality of the corticospinal tract

[Term]
id: HP:0008362
name: Aplasia/Hypoplasia of the hallux
alt_id: HP:0004694
alt_id: HP:0008118
alt_id: HP:0008126
def: "Absence or underdevelopment of the big toe." [HPO:curators]
synonym: "Absent/small big toe" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped big toe" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Aplastic/hypoplastic halluces" EXACT []
xref: UMLS:C1836213
is_a: HP:0001844 ! Abnormality of the hallux
is_a: HP:0010760 ! Absent toe
created_by: peter
creation_date: 2008-04-04T11:33:00Z

[Term]
id: HP:0008363
name: Aplasia/Hypoplasia of the tarsal bones
alt_id: HP:0008109
def: "Absence or underdevelopment of the tarsal bones." [HPO:curators]
synonym: "Absent/small ankle bone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped ankle bone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Aplastic/hypoplastic tarsals" EXACT []
xref: UMLS:C1848671
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet
created_by: peter
creation_date: 2008-04-04T11:35:00Z

[Term]
id: HP:0008364
name: Abnormality of the calcaneus
def: "An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel." [HPO:probinson]
synonym: "Abnormal heel bone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024689
is_a: HP:0001850 ! Abnormality of the tarsal bones
created_by: peter
creation_date: 2008-04-04T11:38:00Z

[Term]
id: HP:0008365
name: Abnormality of the talus
def: "An abnormality of the talus." [HPO:probinson]
synonym: "Abnormal large bone of ankle" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024688
is_a: HP:0001850 ! Abnormality of the tarsal bones
created_by: peter
creation_date: 2008-04-04T11:43:00Z

[Term]
id: HP:0008366
name: Contractures involving the joints of the feet
synonym: "Contractures of the foot joints" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:239742004
xref: UMLS:C0343149
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0005750 ! Contractures of the joints of the lower limbs
created_by: peter
creation_date: 2008-04-04T11:44:00Z

[Term]
id: HP:0008368
name: Tarsal synostosis
alt_id: HP:0001851
alt_id: HP:0001957
alt_id: HP:0008092
alt_id: HP:0100330
def: "Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones)." [HPO:probinson]
synonym: "Fused ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Synostosis involving tarsal bones" EXACT []
synonym: "Synostosis of tarsal bones" EXACT []
synonym: "Tarsal bone fusion" EXACT []
synonym: "Tarsal bone synostosis" EXACT []
synonym: "Tarsal fusion" EXACT []
synonym: "Tarsal fusions" EXACT []
xref: MSH:D000070604
xref: SNOMEDCT_US:27173008
xref: UMLS:C0265654
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0009140 ! Synostosis involving bones of the feet
is_a: HP:0100266 ! Synostosis of carpals/tarsals
created_by: peter
creation_date: 2008-04-04T11:52:00Z

[Term]
id: HP:0008369
name: Abnormal tarsal ossification
def: "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson]
synonym: "Abnormal maturation of ankle bones" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal ossification of tarsal bones" EXACT []
synonym: "Hardening of ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4021544
xref: UMLS:C4025075
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0010675 ! Abnormal foot bone ossification
created_by: peter
creation_date: 2008-04-04T11:53:00Z

[Term]
id: HP:0008371
name: Abnormal metatarsal ossification
def: "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years." [HPO:probinson]
synonym: "Abnormal maturation of long bone of foot" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal ossification involving metatarsal bones" EXACT []
xref: UMLS:C4021543
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0010675 ! Abnormal foot bone ossification
created_by: peter
creation_date: 2008-04-04T11:59:00Z

[Term]
id: HP:0008372
name: Abnormality of vitamin A metabolism
xref: UMLS:C4024686
is_a: HP:0100508 ! Abnormality of vitamin metabolism
created_by: peter
creation_date: 2008-04-04T12:29:00Z

[Term]
id: HP:0008373
name: Puberty and gonadal disorders
alt_id: HP:0000827
synonym: "Puberty and gonadal disorders" EXACT layperson []
xref: UMLS:C4024685
is_a: HP:0000818 ! Abnormality of the endocrine system
created_by: peter
creation_date: 2008-04-04T12:35:00Z

[Term]
id: HP:0008376
name: Nasal, dysarthic speech
synonym: "Breathy speech" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1834664
is_a: HP:0001260 ! Dysarthria

[Term]
id: HP:0008383
name: Slow-growing nails
alt_id: HP:0008411
def: "Nails whose growth is slower than normal." [HPO:probinson]
synonym: "Slow-growing nails" EXACT layperson []
xref: UMLS:C1835238
is_a: HP:0030807 ! Abnormal nail growth

[Term]
id: HP:0008386
name: Aplasia/Hypoplasia of the nails
alt_id: HP:0008385
def: "Aplasia or developmental hypoplasia of the nail." [HPO:probinson]
synonym: "Absent/hypoplastic nails" EXACT []
synonym: "Absent/small nails" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped nails" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Nail aplasia/hypoplasia" EXACT []
xref: UMLS:C1859077
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0008388
name: Abnormal toenail morphology
def: "An anomaly of the toenail." [HPO:probinson]
synonym: "Abnormality of the toenail" EXACT layperson []
synonym: "Abnormality of the toenails" EXACT layperson []
xref: SNOMEDCT_US:700189007
xref: UMLS:C3839753
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0008390
name: Recurrent loss of toenails and fingernails
def: "Recurrent loss, or shedding, of the nails of the fingers and toes." [DDD:cmoss]
synonym: "Recurrent loss of toenails and fingernails" EXACT layperson []
synonym: "Recurrent shedding of toenails and fingernails" EXACT layperson []
xref: UMLS:C4021542
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0008391
name: Dystrophic fingernails
def: "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate." [HPO:probinson]
synonym: "Poor fingernail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432]
xref: UMLS:C3551426
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0008404 ! Nail dystrophy

[Term]
id: HP:0008392
name: Subungual hyperkeratosis
def: "A thickening of the stratum corneum in the region beneath the nails." [HPO:probinson]
synonym: "Thickened, discolored skin under nail" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:10165000
xref: UMLS:C0038605
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0009723 ! Abnormality of the subungual region

[Term]
id: HP:0008393
name: Congenital curved nail of fourth toe
xref: UMLS:C4024684
is_a: HP:0008388 ! Abnormal toenail morphology

[Term]
id: HP:0008394
name: Congenital onychodystrophy
synonym: "Congenital malformed nails" BROAD layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1393669
xref: UMLS:C4280413
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0008396
name: Chronic monilial nail infection
def: "Chronic infection of the nails by Candida species." [HPO:probinson]
xref: UMLS:C4024683
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0008398
name: Hypoplastic fifth fingernail
alt_id: HP:0200103
def: "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger." [HPO:probinson]
synonym: "Underdeveloped fifth fingernail" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Underdeveloped fingernail of little finger" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Underdeveloped fingernail of pinkie finger" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Underdeveloped fingernail of pinky finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024682
is_a: HP:0001804 ! Hypoplastic fingernail

[Term]
id: HP:0008399
name: Circumungual hyperkeratosis
def: "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails." [HPO:probinson]
synonym: "Thick skin around nails" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024681
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0100803 ! Abnormality of the periungual region

[Term]
id: HP:0008400
name: Onycholysis of distal fingernails
def: "Detachment of the distal fingernails from the nail bed." [HPO:probinson]
synonym: "Detachment of outermost fingernails" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024680
is_a: HP:0040039 ! Onycholysis of fingernails

[Term]
id: HP:0008401
name: Onychogryposis of toenails
alt_id: HP:0008395
alt_id: HP:0008405
def: "Thickened toenails." [HPO:probinson]
synonym: "Overgrowth and curving of toenails" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024679
is_a: HP:0001805 ! Onychogryposis

[Term]
id: HP:0008402
name: Ridged fingernail
def: "Longitudinal, linear prominences in the fingernail plate." [HPO:probinson, pmid:19125433]
synonym: "Longitudinally grooved fingernails" EXACT layperson []
synonym: "Ridged fingernail" EXACT layperson []
synonym: "Ridged fingernails" RELATED layperson [HPO:skoehler]
xref: UMLS:C1849392
is_a: HP:0001231 ! Abnormal fingernail morphology

[Term]
id: HP:0008404
name: Nail dystrophy
alt_id: HP:0008382
alt_id: HP:0008397
alt_id: HP:0008408
def: "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [pmid:19675700]
comment: Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use.
synonym: "Dystrophic nails" EXACT []
synonym: "Onychodystrophy" EXACT []
synonym: "Poor nail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432]
xref: MEDDRA:10028698 "Nail dystrophy"
xref: SNOMEDCT_US:87065009
xref: UMLS:C0221260
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0008407
name: Hyperconvex thumb nails
synonym: "Tightly curved thumb nail" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1855290
is_a: HP:0001795 ! Hyperconvex nail

[Term]
id: HP:0008410
name: Subungual hyperkeratotic fragments
xref: UMLS:C1852311
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0009723 ! Abnormality of the subungual region

[Term]
id: HP:0008414
name: Lumbar kyphosis in infancy
synonym: "Hunched back in infancy" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Round back in infancy" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1863423
is_a: HP:0008454 ! Lumbar kyphosis

[Term]
id: HP:0008416
name: Six lumbar vertebrae
xref: UMLS:C1839279
is_a: HP:0002946 ! Supernumerary vertebrae

[Term]
id: HP:0008417
name: Vertebral hypoplasia
alt_id: HP:0008431
def: "Small, underdeveloped vertebral bodies." [HPO:probinson]
subset: hposlim_core
synonym: "Underdeveloped vertebrae" EXACT layperson []
xref: SNOMEDCT_US:205456006
xref: UMLS:C0345394
is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae

[Term]
id: HP:0008418
name: Squared-off platyspondyly
xref: UMLS:C1849051
is_a: HP:0000926 ! Platyspondyly

[Term]
id: HP:0008419
name: Intervertebral disc degeneration
def: "The presence of degenerative changes of intervertebral disk." [HPO:probinson]
synonym: "Degeneration of intervertebral disks" EXACT []
synonym: "Degenerative disc disease" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Degenerative intervertebral disk" EXACT []
xref: MSH:D055959
xref: SNOMEDCT_US:77547008
xref: UMLS:C0158266
is_a: HP:0005108 ! Abnormality of the intervertebral disk

[Term]
id: HP:0008420
name: Punctate vertebral calcifications
def: "The presence of punctiform calcification of the bone of the vertebral bodies." [HPO:probinson]
xref: UMLS:C4024678
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0008421
name: Tall lumbar vertebral bodies
xref: UMLS:C1863313
is_a: HP:0004570 ! Increased vertebral height

[Term]
id: HP:0008422
name: Vertebral wedging
def: "An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other." [HPO:probinson]
synonym: "Wedge-shaped vertebrae" EXACT layperson []
xref: UMLS:C1695776
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0008423
name: Spinal dysplasia
def: "The presence of developmental dysplasia of the vertebral column." [HPO:probinson]
xref: UMLS:C4021853
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0008424
name: Hypoplastic 5th lumbar vertebrae
synonym: "Underdeveloped 5th lumbar vertebrae" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1859366
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008425
name: Cuboid-shaped thoracolumbar vertebral bodies
xref: UMLS:C1855289
is_a: HP:0004634 ! Cuboid-shaped vertebral bodies

[Term]
id: HP:0008428
name: Vertebral clefting
alt_id: HP:0000942
def: "Schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson]
comment: Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed.
synonym: "Vertebral clefts" EXACT []
xref: UMLS:C1855828
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0008430
name: Anterior beaking of lumbar vertebrae
alt_id: HP:0005664
def: "Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine." [HPO:probinson]
synonym: "Anterior tongue-like protrusion of lumbar vertebral bodies" EXACT []
xref: UMLS:C4021541
is_a: HP:0004568 ! Beaking of vertebral bodies

[Term]
id: HP:0008432
name: Anterior wedging of L1
def: "An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson]
xref: UMLS:C4024677
is_a: HP:0008422 ! Vertebral wedging

[Term]
id: HP:0008433
name: Reversed usual vertebral column curves
xref: UMLS:C4024676
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0008434
name: Hypoplastic cervical vertebrae
alt_id: HP:0008415
synonym: "Cervical vertebrae hypoplasia" EXACT []
synonym: "Underdeveloped cervical vertebrae" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1835570
is_a: HP:0008417 ! Vertebral hypoplasia
is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine

[Term]
id: HP:0008435
name: Absent in utero ossification of vertebral bodies
xref: UMLS:C1842698
is_a: HP:0004606 ! Unossified vertebral bodies

[Term]
id: HP:0008436
name: Absent/hypoplastic coccyx
synonym: "Absent/small tailbone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped tailbone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1856644
is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum

[Term]
id: HP:0008437
name: Bifid thoracic vertebrae
xref: UMLS:C2751478
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0008438
name: Vertebral arch anomaly
def: "A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra." [HPO:probinson]
comment: A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments.
synonym: "Vertebral arch abnormalities" EXACT []
xref: UMLS:C1835764
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0008439
name: Lumbar hemivertebrae
def: "Absence of one half of the vertebral body in the lumbar spine." [HPO:probinson]
xref: SNOMEDCT_US:93167001
xref: UMLS:C0432149
is_a: HP:0002937 ! Hemivertebrae

[Term]
id: HP:0008440
name: C1-C2 vertebral abnormality
def: "Any abnormality of the atlas and the axis." [HPO:probinson]
comment: The atlas is the first cervical vertebral body and the axis is the second vertebral body.
xref: UMLS:C4024675
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0008441
name: Herniation of intervertebral nuclei
def: "The presence of one or more herniated nucleus pulposus of intervertebral disk." [HPO:probinson]
subset: hposlim_core
synonym: "Herniated disk" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Herniated intervertebral nuclei" EXACT []
xref: MSH:D007405
xref: SNOMEDCT_US:73589001
xref: UMLS:C0021818
xref: UMLS:C1832597
is_a: HP:0005108 ! Abnormality of the intervertebral disk

[Term]
id: HP:0008442
name: Vertebral hyperostosis
def: "Excessive growth of the bones of the vertebral bodies." [HPO:curators]
xref: UMLS:C1834057
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0100774 ! Hyperostosis

[Term]
id: HP:0008443
name: Spinal deformities
xref: SNOMEDCT_US:298380006
xref: UMLS:C0575157
is_a: HP:0000925 ! Abnormality of the vertebral column

[Term]
id: HP:0008444
name: Posterior wedging of vertebral bodies
def: "An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back)." [HPO:probinson]
xref: UMLS:C1969679
is_a: HP:0008422 ! Vertebral wedging

[Term]
id: HP:0008445
name: Cervical spinal canal stenosis
def: "An abnormal narrowing of the cervical spinal canal." [HPO:probinson]
synonym: "Narrow cervical spinal canal" EXACT []
xref: UMLS:C1844925
is_a: HP:0003416 ! Spinal canal stenosis

[Term]
id: HP:0008447
name: Hypoplastic coccygeal vertebrae
xref: UMLS:C2751480
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008449
name: Progressive cervical vertebral spine fusion
xref: UMLS:C1851129
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0008450
name: Narrow vertebral interpedicular distance
alt_id: HP:0008426
alt_id: HP:0008448
alt_id: HP:0008474
def: "A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [HPO:probinson]
subset: hposlim_core
synonym: "Interpedicular narrowing" EXACT []
synonym: "Narrow interpedicular space" EXACT []
synonym: "Narrow interpediculate distances" EXACT []
synonym: "Narrowing of interpediculate distances" EXACT []
xref: UMLS:C1832598
is_a: HP:0008438 ! Vertebral arch anomaly

[Term]
id: HP:0008451
name: Posterior vertebral hypoplasia
xref: UMLS:C1856780
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008452
name: Wafer-thin platyspondyly
xref: UMLS:C1865124
is_a: HP:0004565 ! Severe platyspondyly

[Term]
id: HP:0008453
name: Congenital kyphoscoliosis
xref: SNOMEDCT_US:405772002
xref: UMLS:C0345392
is_a: HP:0002751 ! Kyphoscoliosis

[Term]
id: HP:0008454
name: Lumbar kyphosis
alt_id: HP:0008487
def: "Over curvature of the lumbar region." [HPO:probinson]
synonym: "Lumbar gibbus deformity" EXACT []
synonym: "Rounded lower back" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1844818
is_a: HP:0100712 ! Abnormality of the lumbar spine

[Term]
id: HP:0008455
name: Dysplastic sacrum
def: "A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally." []
synonym: "Absence of some of the sacral and coccygeal bones" EXACT layperson []
synonym: "Partial sacral agenesis" EXACT []
synonym: "Sacral dysgenesis" EXACT []
xref: UMLS:C1851305
is_a: HP:0005107 ! Abnormal sacrum morphology

[Term]
id: HP:0008456
name: C2-C3 subluxation
def: "A partial dislocation of the intervertebral joint between the second and third cervical vertebrae." [HPO:probinson]
xref: UMLS:C2678323
is_a: HP:0003308 ! Cervical subluxation

[Term]
id: HP:0008457
name: Caudal interpedicular narrowing
def: "Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine." [HPO:probinson]
synonym: "Caudal narrowing of interpedicular distances" EXACT []
xref: UMLS:C1863734
is_a: HP:0008450 ! Narrow vertebral interpedicular distance

[Term]
id: HP:0008458
name: Progressive congenital scoliosis
def: "A progressive form of scoliosis with congenital onset." [HPO:probinson]
xref: UMLS:C1857025
is_a: HP:0002650 ! Scoliosis

[Term]
id: HP:0008459
name: Cervical vertebral agenesis
def: "Agenesis of one or more vertebrae of the cervical vertebral column." [HPO:probinson]
synonym: "Cervical vertebrae agenesis" EXACT []
synonym: "Missing cervical vertebrae" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:C562952
xref: SNOMEDCT_US:91880006
xref: UMLS:C0432160
is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine

[Term]
id: HP:0008460
name: Hypoplastic spinal processes
synonym: "Underdeveloped spinal processes" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024674
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column

[Term]
id: HP:0008461
name: Cervical vertebral facet hypoplasia
xref: UMLS:C4024673
is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine

[Term]
id: HP:0008462
name: Cervical instability
xref: UMLS:C1863314
is_a: HP:0005881 ! Spinal instability

[Term]
id: HP:0008463
name: Central vertebral hypoplasia
xref: UMLS:C4024672
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008464
name: Absent spinous processes of lower thoracic and lumbar vertebrae
xref: UMLS:C4024671
is_a: HP:0008516 ! Abnormality of the vertebral spinous processes

[Term]
id: HP:0008465
name: Absent vertebra
def: "A developmental defect characterized by agenesis of one or more vertebral bodies." [PMID:26167231]
synonym: "Absent vertebrae" EXACT layperson []
xref: SNOMEDCT_US:15843004
xref: UMLS:C0158776
is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae

[Term]
id: HP:0008467
name: Thoracic hemivertebrae
alt_id: HP:0004604
def: "Absence of one half of the vertebral body in the thoracic spine." [HPO:probinson]
synonym: "Midthoracic hemivertebrae" NARROW []
xref: SNOMEDCT_US:95304000
xref: UMLS:C0432152
xref: UMLS:C4020799
is_a: HP:0002937 ! Hemivertebrae

[Term]
id: HP:0008468
name: Abnormal sacral segmentation
def: "An abnormality related to a defect of vertebral separation of sacral vertebrae during development." []
xref: UMLS:C1968942
is_a: HP:0008490 ! Sacral segmentation defect

[Term]
id: HP:0008469
name: Cervical vertebral dysplasia
def: "Dysplasia of the cervical vertebral column." [HPO:probinson]
xref: MSH:C566140
xref: UMLS:C1861693
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0008470
name: Lower thoracic interpediculate narrowness
def: "A reduction of the distance between the lower thoracic vertebral pedicles." [HPO:probinson]
synonym: "Narrowness of interpediculate distances in lower thoracic regions" EXACT []
xref: UMLS:C1854940
is_a: HP:0008450 ! Narrow vertebral interpedicular distance

[Term]
id: HP:0008472
name: Prominent protruding coccyx
synonym: "Large tailbone" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Prominent protruding tailbone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1850044
xref: UMLS:C4280412
is_a: HP:0040016 ! Prominent coccyx
is_a: HP:0040017 ! Protruding coccyx

[Term]
id: HP:0008473
name: Narrow anterio-posterior vertebral body diameter
alt_id: HP:0005732
def: "An abnormal reduction of the anterioposterior diameter of the vertebral body." [HPO:probinson]
synonym: "Reduced sagittal diameter of vertebrae" EXACT []
xref: UMLS:C4021540
is_a: HP:0008479 ! Hypoplastic vertebral bodies

[Term]
id: HP:0008475
name: Hypoplastic sacral vertebrae
xref: UMLS:C2751479
is_a: HP:0004590 ! Hypoplastic sacrum
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008476
name: Irregular sclerotic endplates
alt_id: HP:0004624
synonym: "irregular, dense end plate" EXACT []
xref: UMLS:C1868554
is_a: HP:0003301 ! Irregular vertebral endplates

[Term]
id: HP:0008477
name: Poorly ossified cervical vertebrae
def: "Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set." [HPO:probinson]
xref: UMLS:C4024670
is_a: HP:0100856 ! Poorly ossified vertebrae

[Term]
id: HP:0008478
name: Scheuermann-like vertebral changes
xref: UMLS:C1844926
is_a: HP:0010891 ! Morbus Scheuermann

[Term]
id: HP:0008479
name: Hypoplastic vertebral bodies
alt_id: HP:0002773
synonym: "Small vertebrae" EXACT []
synonym: "Small vertebral bodies" EXACT []
synonym: "Underdeveloped back bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C1863353
is_a: HP:0003312 ! Abnormal form of the vertebral bodies
is_a: HP:0008417 ! Vertebral hypoplasia

[Term]
id: HP:0008480
name: Cervical spondylosis
def: "The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column." [HPO:probinson]
synonym: "Cervical oestoarthritis" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Neck arthritis" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D055009
xref: SNOMEDCT_US:387800004
xref: SNOMEDCT_US:387801000
xref: UMLS:C0263854
xref: UMLS:C1384641
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0008482
name: Asymmetry of spinal facet joints
xref: UMLS:C4024669
is_a: HP:0030870 ! Abnormality of spinal facet joint

[Term]
id: HP:0008483
name: Cervical vertebral bodies with decreased anteroposterior diameter
xref: UMLS:C1847393
is_a: HP:0003319 ! Abnormality of the cervical spine

[Term]
id: HP:0008484
name: Thoracolumbar interpediculate narrowness
def: "A reduction of the distance between thoracolumbar vertebral pedicles." [HPO:probinson]
synonym: "Narrow thoracolumbar interpediculate distance" EXACT []
xref: UMLS:C1864364
is_a: HP:0008450 ! Narrow vertebral interpedicular distance

[Term]
id: HP:0008486
name: Lumbar interpedicular narrowing
def: "Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column." [HPO:probinson]
synonym: "Decreasing lumbar vertebrae interpediculate distance" EXACT []
xref: UMLS:C1849079
is_a: HP:0008457 ! Caudal interpedicular narrowing

[Term]
id: HP:0008488
name: Anterior rounding of vertebral bodies
xref: UMLS:C1850043
is_a: HP:0003300 ! Ovoid vertebral bodies

[Term]
id: HP:0008489
name: Spondylolisthesis at L5-S1
alt_id: HP:0005779
def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1)." [HPO:probinson]
synonym: "Spondylolysis and spondylolisthesis of l5" EXACT []
xref: UMLS:C3275799
is_a: HP:0003302 ! Spondylolisthesis

[Term]
id: HP:0008490
name: Sacral segmentation defect
xref: UMLS:C1850329
is_a: HP:0003422 ! Vertebral segmentation defect
is_a: HP:0005107 ! Abnormal sacrum morphology

[Term]
id: HP:0008491
name: Premature anterior fontanel closure
def: "Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson]
xref: UMLS:C4024668
is_a: HP:0000236 ! Abnormality of the anterior fontanelle

[Term]
id: HP:0008494
name: Inferior lens subluxation
def: "Partial displacement of the lens in the inferior direction." [HPO:probinson]
synonym: "Inferior subluxated lens" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C2036842
is_a: HP:0001132 ! Lens subluxation

[Term]
id: HP:0008496
name: Multiple rows of eyelashes
synonym: "Double row of eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Extra rows of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Multiple rows of eyelashes" EXACT layperson []
synonym: "Two rows of eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:95339000
xref: UMLS:C0423848
xref: UMLS:C3550336
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0008497
name: Congenital craniofacial dysostosis
xref: UMLS:C4024667
is_a: HP:0004439 ! Craniofacial dysostosis

[Term]
id: HP:0008498
name: No permanent dentition
synonym: "Absence of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of secondary dentition" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "No adult dentition" EXACT [ORCID:0000-0001-5889-4463]
synonym: "No secondary dentition" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024666
is_a: HP:0000696 ! Delayed eruption of permanent teeth

[Term]
id: HP:0008499
name: High hypermetropia
def: "A severe form of hypermetropia with over +5.00 diopters." [DDD:ncarter, ORCID:0000-0003-0986-4123]
synonym: "High hyperopia" EXACT []
synonym: "High-grade hypermetropia" EXACT []
synonym: "Severe farsightedness" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Severe long-sightedness" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024665
is_a: HP:0000540 ! Hypermetropia

[Term]
id: HP:0008501
name: Median cleft lip and palate
alt_id: HP:0009089
def: "Cleft lip or palate affecting the midline region of the palate." [HPO:sdoelken]
synonym: "Central cleft lip and palate" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Medial cleft lip and palate" EXACT []
synonym: "Midline cleft lip/palate" EXACT layperson []
synonym: "Wide midline cleft lip/palate" EXACT []
xref: UMLS:C2750604
is_a: HP:0000161 ! Median cleft lip
is_a: HP:0009099 ! Median cleft palate

[Term]
id: HP:0008504
name: Moderate sensorineural hearing impairment
def: "The presence of a moderate form of sensorineural hearing impairment." [HPO:probinson]
synonym: "Moderate neural deafness" RELATED []
xref: UMLS:C4020798
xref: UMLS:C4024664
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0012713 ! Moderate hearing impairment

[Term]
id: HP:0008507
name: Static ophthalmoparesis
xref: UMLS:C4024663
is_a: HP:0000597 ! Ophthalmoparesis

[Term]
id: HP:0008509
name: Aged leonine appearance
xref: UMLS:C3550331
is_a: HP:0007495 ! Prematurely aged appearance

[Term]
id: HP:0008511
name: Central posterior corneal opacity
def: "Reduced transparency of the central posterior portion of the corneal stroma." [HPO:probinson]
xref: SNOMEDCT_US:246967007
xref: UMLS:C0423260
is_a: HP:0011493 ! Central opacification of the cornea

[Term]
id: HP:0008513
name: Bilateral conductive hearing impairment
alt_id: HP:0008536
def: "A bilateral type of conductive hearing impairment." [HPO:probinson]
synonym: "Bilateral conductive deafness" EXACT []
synonym: "Bilateral conductive hearing loss" EXACT []
xref: SNOMEDCT_US:194417009
xref: UMLS:C0452136
is_a: HP:0000405 ! Conductive hearing impairment

[Term]
id: HP:0008515
name: Aplasia/Hypoplasia of the vertebrae
synonym: "Absent/small vertebrae" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped vertebrae" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024662
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column
created_by: peter
creation_date: 2008-04-04T02:30:00Z

[Term]
id: HP:0008516
name: Abnormality of the vertebral spinous processes
xref: UMLS:C4024661
is_a: HP:0003312 ! Abnormal form of the vertebral bodies
created_by: peter
creation_date: 2008-04-04T02:31:00Z

[Term]
id: HP:0008517
name: Aplasia/Hypoplasia of the sacrum
def: "Aplasia or developmental hypoplasia of the sacral bone." [HPO:probinson]
synonym: "Absent/small sacrum" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped sacrum" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024660
is_a: HP:0005107 ! Abnormal sacrum morphology
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column
created_by: peter
creation_date: 2008-04-04T02:32:00Z

[Term]
id: HP:0008518
name: Aplasia/Hypoplasia involving the vertebral column
synonym: "Absent/small backbone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/small spine" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/small vertebral column" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped backbone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped spine" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped vertebral column" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024659
is_a: HP:0000925 ! Abnormality of the vertebral column
is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton
created_by: peter
creation_date: 2008-04-04T02:33:00Z

[Term]
id: HP:0008519
name: Abnormality of the coccyx
alt_id: HP:0002830
def: "An abnormality of the coccyx." [HPO:probinson]
synonym: "Abnormal tailbone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024658
is_a: HP:0000925 ! Abnormality of the vertebral column
is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology
created_by: peter
creation_date: 2008-04-04T02:41:00Z

[Term]
id: HP:0008523
name: Posterior helix pit
def: "Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated." [pmid:19152421]
comment: They are usually linear to a narrow oval in shape and may be single or multiple.
subset: hposlim_core
synonym: "Ear, posterior helical groove" EXACT []
synonym: "Ear, posterior helical notch" EXACT []
synonym: "Helix, posterior pit" EXACT []
synonym: "Indentation in back of outer ear" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Pits in posterior aspect of ear helices" EXACT []
xref: UMLS:C4021539
is_a: HP:0011039 ! Abnormality of the helix

[Term]
id: HP:0008527
name: Congenital sensorineural hearing impairment
alt_id: HP:0004455
alt_id: HP:0004457
alt_id: HP:0008520
alt_id: HP:0008521
alt_id: HP:0008540
alt_id: HP:0008543
alt_id: HP:0008545
alt_id: HP:0008546
alt_id: HP:0008556
alt_id: HP:0008558
alt_id: HP:0008561
alt_id: HP:0008571
alt_id: HP:0008603
alt_id: HP:0008612
alt_id: HP:0008620
def: "A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset." [HPO:probinson]
synonym: "Bilateral congenital sensorineural deafness" EXACT []
synonym: "Congenital neurosensory deafness" EXACT []
synonym: "Congenital perceptive deafness" EXACT []
synonym: "Congenital sensorineural deafness" EXACT []
synonym: "Congenital sensorineural hearing loss" EXACT []
synonym: "Hearing loss, congenital sensorineural" EXACT []
xref: SNOMEDCT_US:700453005
xref: UMLS:C1865866
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0008528
name: Long hairs growing from helix of pinna
synonym: "Ear hair" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Long hairs growing from helix of ear" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:27394002
xref: UMLS:C0222050
xref: UMLS:C4024657
is_a: HP:0011039 ! Abnormality of the helix

[Term]
id: HP:0008529
name: Absence of acoustic reflex
alt_id: HP:0008595
def: "Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli." [HPO:probinson]
comment: Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex.
synonym: "Absence of acoustic middle ear muscle reflexes" EXACT []
synonym: "Absent middle ear reflexes" EXACT []
xref: UMLS:C1832834
is_a: HP:0040121 ! Abnormality of the acoustic reflex

[Term]
id: HP:0008537
name: Cleft at the superior portion of the pinna
comment: This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix.
synonym: "Cleft at the superior portion of the ear" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1865302
is_a: HP:0009902 ! Cleft helix

[Term]
id: HP:0008541
name: Superiorly displaced ears
synonym: "High set ears" RELATED layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1850190
is_a: HP:0000357 ! Abnormal location of ears

[Term]
id: HP:0008542
name: Low-frequency hearing loss
def: "A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)." [HPO:probinson]
synonym: "Low-frequency hearing loss" EXACT layperson []
xref: SNOMEDCT_US:42538001
xref: UMLS:C0271514
is_a: HP:0000365 ! Hearing impairment

[Term]
id: HP:0008544
name: Abnormally folded helix
xref: UMLS:C1970777
is_a: HP:0011039 ! Abnormality of the helix

[Term]
id: HP:0008551
name: Microtia
alt_id: HP:0000393
alt_id: HP:0000409
alt_id: HP:0008550
alt_id: HP:0008618
alt_id: HP:0008621
def: "Underdevelopment of the external ear." [HPO:probinson, pmid:19152421, pmid:3270622]
comment: The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established.
subset: hposlim_core
synonym: "Bilateral microtia" EXACT []
synonym: "Hypoplasia of the external ear" EXACT []
synonym: "Hypoplastic ears" EXACT []
synonym: "Hypoplastic pinna" EXACT []
synonym: "Small ears" EXACT layperson []
synonym: "Small pinnae" EXACT []
synonym: "Underdeveloped ears" EXACT layperson []
xref: MSH:D065817
xref: SNOMEDCT_US:35045004
xref: UMLS:C0152423
is_a: HP:0000377 ! Abnormality of the pinna
is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear

[Term]
id: HP:0008554
name: Cochlear malformation
def: "The presence of a malformed cochlea." [HPO:probinson]
comment: A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two.
xref: UMLS:C1862050
is_a: HP:0000375 ! Abnormal cochlea morphology

[Term]
id: HP:0008555
name: Absent vestibular function
def: "Complete lack of functioning of the vestibular apparatus." [HPO:probinson]
xref: UMLS:C4024656
is_a: HP:0001756 ! Vestibular hypofunction

[Term]
id: HP:0008559
name: Hypoplastic superior helix
alt_id: HP:0008627
synonym: "Underdeveloped superior helices" EXACT []
xref: UMLS:C1865305
is_a: HP:0008589 ! Hypoplastic helices

[Term]
id: HP:0008568
name: Vestibular areflexia
alt_id: HP:0008526
def: "Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography." [HPO:probinson, PMID:26918204]
synonym: "Vestibular ataxia" RELATED []
xref: SNOMEDCT_US:22443004
xref: UMLS:C0235927
xref: UMLS:C4015052
is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex

[Term]
id: HP:0008569
name: Microtia, second degree
def: "Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear." [eom:ae27d9699faef13a, pmid:19152421]
synonym: "Cockleshell ear" RELATED layperson []
synonym: "Constricted helix type IV" RELATED []
synonym: "Ear, grade II dysplasia" RELATED []
synonym: "Mini ear" RELATED layperson []
synonym: "Severe cupped ear, type III" RELATED []
synonym: "Shell ear" RELATED layperson []
synonym: "Snail ear" RELATED layperson []
xref: UMLS:C4020694
xref: UMLS:C4020792
xref: UMLS:C4020793
xref: UMLS:C4020794
xref: UMLS:C4020795
xref: UMLS:C4020796
xref: UMLS:C4020797
is_a: HP:0008551 ! Microtia

[Term]
id: HP:0008572
name: External ear malformation
alt_id: HP:0008594
def: "A malformation of the auricle of the ear." [HPO:probinson]
synonym: "External ear malformation" EXACT layperson []
xref: UMLS:C1846460
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0008573
name: Low-frequency sensorineural hearing impairment
def: "A form of sensorineural hearing impairment that affects primarily the lower frequencies." [HPO:probinson]
synonym: "Low-frequency sensorineural hearing loss" EXACT []
xref: UMLS:C3810445
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0008577
name: Underfolded helix
def: "Underdevelopment of the helix that either affects the entire helix, or is localized." [pmid:19152421]
comment: Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged.
synonym: "Poorly folded helices" EXACT []
xref: UMLS:C1849735
is_a: HP:0008544 ! Abnormally folded helix

[Term]
id: HP:0008583
name: Underfolded superior helices
def: "A condition in which the superior portion of the helix is folded over to a lesser degree than normal." [HPO:probinson]
xref: UMLS:C4024655
is_a: HP:0008577 ! Underfolded helix

[Term]
id: HP:0008586
name: Hypoplasia of the cochlea
def: "Developmental hypoplasia of the cochlea." [HPO:probinson]
synonym: "Hypoplastic cochlea" EXACT []
synonym: "Underdeveloped cochlea" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C2676974
is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea

[Term]
id: HP:0008587
name: Mild neurosensory hearing impairment
def: "The presence of a mild form of sensorineural hearing impairment." [HPO:probinson]
comment: A neurosensory hearing loss with a deficit of 21-40 dB.
synonym: "Mild neurosensory hearing loss" EXACT []
xref: UMLS:C4021538
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0012712 ! Mild hearing impairment

[Term]
id: HP:0008588
name: Slit-like opening of the exterior auditory meatus
def: "A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit." [pmid:12843316]
xref: UMLS:C1846459
is_a: HP:0000402 ! Stenosis of the external auditory canal

[Term]
id: HP:0008589
name: Hypoplastic helices
def: "Underdevelopment of the helix, i.e., of the outer rim of the pinna." [HPO:curators]
synonym: "Underdeveloped helices" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1842681
is_a: HP:0011039 ! Abnormality of the helix

[Term]
id: HP:0008591
name: Congenital conductive hearing impairment
alt_id: HP:0008525
def: "A type of conductive deafness with congenital onset." [HPO:probinson]
synonym: "Congenital conductive deafness" EXACT []
synonym: "Congenital conductive hearing loss" EXACT []
xref: UMLS:C4021537
is_a: HP:0000405 ! Conductive hearing impairment

[Term]
id: HP:0008593
name: Prominent antitragus
def: "Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [HPO:curators, pmid:19152421]
synonym: "Enlarged antitragus" EXACT []
synonym: "Hyperplastic antitragus" EXACT []
synonym: "Hypertrophic antitragus" EXACT []
xref: UMLS:C1968811
is_a: HP:0009896 ! Abnormality of the antitragus

[Term]
id: HP:0008596
name: Postlingual sensorineural hearing impairment
def: "A form of sensorineural hearing impairment with onset after the acquisition of speech." [HPO:probinson]
xref: UMLS:C4024654
is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment

[Term]
id: HP:0008598
name: Mild conductive hearing impairment
def: "A mild form of conductive hearing impairment." [HPO:probinson]
comment: Conductive hearing impairment with 21-40 dB deficit.
synonym: "Conductive hearing loss, mild" EXACT []
xref: UMLS:C4021536
is_a: HP:0000405 ! Conductive hearing impairment
is_a: HP:0012712 ! Mild hearing impairment

[Term]
id: HP:0008605
name: Unilateral external ear deformity
synonym: "Deformed external ear on one side" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834043
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0008606
name: Supraauricular pit
def: "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken]
synonym: "Pit above the ear" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Supraauricular fistula" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Supraauricular sinus" EXACT []
synonym: "Supraauricular sinuses" EXACT []
xref: UMLS:C1862059
is_a: HP:0100277 ! Periauricular skin pits

[Term]
id: HP:0008607
name: Progressive conductive hearing impairment
def: "A progressive type of conductive deafness." [HPO:probinson]
synonym: "Progressive conductive deafness" EXACT []
xref: UMLS:C1861325
is_a: HP:0000405 ! Conductive hearing impairment

[Term]
id: HP:0008608
name: Hypertrophic auricular cartilage
xref: UMLS:C1857263
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0008609
name: Morphological abnormality of the middle ear
def: "An abnormality of the morphology or structure of the middle ear." [DDD:mbitner-glidicz]
synonym: "Middle ear malformation" EXACT layperson []
synonym: "Morphological abnormality of the middle ear" EXACT layperson []
xref: UMLS:C1857456
is_a: HP:0000370 ! Abnormality of the middle ear

[Term]
id: HP:0008610
name: Infantile sensorineural hearing impairment
def: "A form of sensorineural hearing impairment with infantile onset." [HPO:probinson]
synonym: "Infantile sensorineural hearing loss" EXACT []
xref: UMLS:C4021535
is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment

[Term]
id: HP:0008615
name: Adult onset sensorineural hearing impairment
alt_id: HP:0008532
alt_id: HP:0008599
def: "The presence of sensorineural deafness with late onset." [HPO:probinson]
synonym: "Late sensorineural hearing loss" EXACT []
synonym: "Sensorineural deafness, late-onset" EXACT []
xref: UMLS:C4021534
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0008619
name: Bilateral sensorineural hearing impairment
alt_id: HP:0008530
alt_id: HP:0008539
alt_id: HP:0008579
alt_id: HP:0008585
def: "A bilateral form of sensorineural hearing impairment." [HPO:probinson]
synonym: "Bilateral nerve deafness" EXACT []
synonym: "Bilateral sensorineural deafness" EXACT []
synonym: "Bilateral sensorineural hearing loss" EXACT []
synonym: "Hearing loss, sensorineural, bilateral" EXACT []
xref: SNOMEDCT_US:194424005
xref: UMLS:C0452138
is_a: HP:0000407 ! Sensorineural hearing impairment

[Term]
id: HP:0008625
name: Severe sensorineural hearing impairment
alt_id: HP:0008534
alt_id: HP:0008574
def: "A severe form of sensorineural hearing impairment." [HPO:probinson]
synonym: "Severe sensorineural deafness" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Severe sensorineural hearing loss" EXACT []
xref: UMLS:C4021533
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0012714 ! Severe hearing impairment

[Term]
id: HP:0008628
name: Abnormality of the stapes
def: "An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear." [HPO:probinson]
synonym: "Stapedial abnormalities" EXACT []
xref: UMLS:C4021532
is_a: HP:0004452 ! Abnormality of the middle ear ossicles

[Term]
id: HP:0008629
name: Pulsatile tinnitus
alt_id: HP:0000361
def: "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus." [HPO:curators]
xref: MSH:D014012
xref: SNOMEDCT_US:232322006
xref: UMLS:C0751559
is_a: HP:0000360 ! Tinnitus

[Term]
id: HP:0008631
name: Ureteral dysgenesis
def: "A developmental anomaly of the ureter." [HPO:probinson]
comment: If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen.
xref: UMLS:C4024653
is_a: HP:0000069 ! Abnormality of the ureter

[Term]
id: HP:0008633
name: Agonadism
def: "Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females)." []
comment: Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous.
synonym: "Absent gonadal tissue" EXACT []
synonym: "Gonadal agenesis" EXACT []
xref: UMLS:C4024652
is_a: HP:0000812 ! Abnormal internal genitalia

[Term]
id: HP:0008635
name: Hypertrophy of the urinary bladder
def: "Abnormal enlargement of the urinary bladder." [HPO:probinson]
synonym: "Hypertrophic urinary bladder" EXACT []
xref: UMLS:C4021531
is_a: HP:0025487 ! Abnormality of bladder morphology

[Term]
id: HP:0008636
name: Lobular glomerulopathy
xref: UMLS:C4024651
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology

[Term]
id: HP:0008639
name: Gonadal hypoplasia
synonym: "Underdeveloped gonad" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0239761
is_a: HP:0000812 ! Abnormal internal genitalia

[Term]
id: HP:0008640
name: Congenital macroorchidism
xref: UMLS:C4024650
is_a: HP:0000053 ! Macroorchidism

[Term]
id: HP:0008643
name: Nephroblastomatosis
def: "Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood." [HPO:probinson, pmid:10707720]
xref: UMLS:C2675558
is_a: HP:0011794 ! Embryonal renal neoplasm

[Term]
id: HP:0008647
name: Pubertal developmental failure in females
xref: UMLS:C4024649
is_a: HP:0008197 ! Absence of pubertal development

[Term]
id: HP:0008648
name: Anteriorly displaced urethral meatus
xref: UMLS:C4024648
is_a: HP:0100627 ! Displacement of the urethral meatus

[Term]
id: HP:0008651
name: Uric acid urolithiasis independent of gout
xref: UMLS:C4024647
is_a: HP:0000791 ! Uric acid nephrolithiasis

[Term]
id: HP:0008652
name: Autonomic erectile dysfunction
def: "Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system." [HPO:probinson]
synonym: "Impotence due to autonomic dysfunction" EXACT []
xref: UMLS:C1868524
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology

[Term]
id: HP:0008653
name: Crescentic glomerulonephritis
def: "A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation." [Eurenomics:ewuehl]
xref: SNOMEDCT_US:236398000
xref: UMLS:C0403416
is_a: HP:0000099 ! Glomerulonephritis

[Term]
id: HP:0008655
name: Aplasia/Hypoplasia of the fallopian tube
def: "Aplasia or developmental hypoplasia of the fallopian tube." [HPO:probinson]
synonym: "Absent or rudimentary fallopian tubes" RELATED []
synonym: "Absent/small fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020791
xref: UMLS:C4024646
is_a: HP:0011027 ! Abnormality of the fallopian tube

[Term]
id: HP:0008656
name: Incomplete male pseudohermaphroditism
xref: UMLS:C4024645
is_a: HP:0000037 ! Male pseudohermaphroditism

[Term]
id: HP:0008659
name: Multiple small medullary renal cysts
alt_id: HP:0005569
alt_id: HP:0100956
def: "The presence of many cysts in the medulla of the kidney." [Eurenomics:ewuehl]
comment: This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease.
synonym: "Medullary cystic disease" RELATED []
synonym: "Medullary sponge kidney disease" RELATED []
xref: SNOMEDCT_US:204958008
xref: UMLS:C0687120
xref: UMLS:C4020790
xref: UMLS:C4024644
is_a: HP:0000107 ! Renal cyst
is_a: HP:0100957 ! Abnormal renal medulla morphology

[Term]
id: HP:0008660
name: Renotubular dysgenesis
def: "A developmental defect characterized by absence or poor development of proximal renal tubules." [HPO:probinson]
comment: Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence.
synonym: "Renal tubular dysgenesis" EXACT []
xref: MSH:C537048
xref: SNOMEDCT_US:702397002
xref: UMLS:C0266313
is_a: HP:0000091 ! Abnormal renal tubule morphology

[Term]
id: HP:0008661
name: Urethral stenosis
def: "Abnormal narrowing of the urethra." [HPO:probinson]
synonym: "Narrowing of the urethra" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D014525
xref: SNOMEDCT_US:236647003
xref: SNOMEDCT_US:76618002
xref: UMLS:C0041974
is_a: HP:0000796 ! Urethral obstruction

[Term]
id: HP:0008663
name: Renal sarcoma
def: "A sarcoma of the kidney." [HPO:probinson]
xref: NCIT:C3158
xref: SNOMEDCT_US:254918001
xref: UMLS:C0346251
is_a: HP:0009726 ! Renal neoplasm
is_a: HP:0100242 ! Sarcoma

[Term]
id: HP:0008664
name: Urethral sphincter sclerosis
xref: UMLS:C4024643
is_a: HP:0008661 ! Urethral stenosis

[Term]
id: HP:0008665
name: Clitoral hypertrophy
alt_id: HP:0000057
alt_id: HP:0008728
def: "Hypertrophy of the clitoris." [HPO:probinson]
comment: Increased size of the clitoris.
synonym: "Clitoral enlargement" EXACT []
synonym: "Clitoromegaly" EXACT []
synonym: "Enlarged clitoris" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Hypertrophic clitoris" EXACT []
synonym: "Prominent clitoris" EXACT []
xref: SNOMEDCT_US:80212005
xref: UMLS:C0156394
is_a: HP:0040253 ! Increased size of the clitoris

[Term]
id: HP:0008666
name: Impaired histidine renal tubular absorption
xref: UMLS:C4024642
is_a: HP:0000124 ! Renal tubular dysfunction

[Term]
id: HP:0008668
name: Gonadal dysgenesis, male
def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation." [HPO:sdoelken]
synonym: "46,xy gonadal dysgenesis" EXACT []
xref: MSH:D006061
xref: UMLS:C0018054
is_a: HP:0000133 ! Gonadal dysgenesis

[Term]
id: HP:0008669
name: Abnormal spermatogenesis
def: "Incomplete maturation or aberrant formation of the male gametes." [HPO:probinson, MP:0001156]
synonym: "Abnormal sperm development" RELATED layperson []
synonym: "Impaired spermatogenesis" EXACT []
xref: SNOMEDCT_US:4529005
xref: UMLS:C0520933
xref: UMLS:C4020789
is_a: HP:0000025 ! Functional abnormality of male internal genitalia

[Term]
id: HP:0008670
name: Partial vaginal septum
xref: UMLS:C0750088
is_a: HP:0001153 ! Septate vagina

[Term]
id: HP:0008672
name: Calcium oxalate nephrolithiasis
alt_id: HP:0008700
alt_id: HP:0008725
def: "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys." [HPO:probinson]
synonym: "Ca oxalate kidney stone" EXACT HP:0045077 []
synonym: "Ca oxalate nephrolithiasis" EXACT HP:0045077 []
synonym: "Ca oxalate urolithiasis" EXACT HP:0045077 []
synonym: "Ca2+ oxalate kidney stone" EXACT HP:0045077 []
synonym: "Ca2+ oxalate nephrolithiasis" EXACT HP:0045077 []
synonym: "Ca2+ oxalate urolithiasis" EXACT HP:0045077 []
synonym: "Calcium oxalate kidney stones" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Calcium oxalate urolithiasis" RELATED []
synonym: "Oxalate nephrolithiasis" EXACT []
xref: MSH:C563477
xref: SNOMEDCT_US:444717006
xref: UMLS:C1833683
xref: UMLS:C4280806
is_a: HP:0004724 ! Calcium nephrolithiasis

[Term]
id: HP:0008675
name: Enlarged polycystic ovaries
synonym: "Enlarged ovaries with cysts" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C4024641
is_a: HP:0000147 ! Polycystic ovaries
is_a: HP:0100879 ! Enlarged ovaries

[Term]
id: HP:0008676
name: Congenital megaureter
def: "A developmental disturbance with extreme ureteral dilatation." [HPO:probinson]
comment: The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction.
synonym: "Congenital megaloureter" EXACT []
xref: SNOMEDCT_US:718485003
xref: SNOMEDCT_US:95576001
xref: UMLS:C0266324
is_a: HP:0000069 ! Abnormality of the ureter

[Term]
id: HP:0008677
name: Congenital nephrotic syndrome
def: "Nephrotic syndrome with onset within the first three months of life." [Eurenomics:fschaefer]
synonym: "Congenital nephrosis" EXACT []
xref: MSH:C535761
xref: SNOMEDCT_US:48796009
xref: UMLS:C3501848
is_a: HP:0000100 ! Nephrotic syndrome

[Term]
id: HP:0008678
name: Renal hypoplasia/aplasia
alt_id: HP:0004744
alt_id: HP:0008701
def: "Absence or underdevelopment of the kidney." [HPO:probinson]
synonym: "Absent/small kidney" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped kidney" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Renal agenesis/hypoplasia" EXACT []
synonym: "Renal aplasia/hypoplasia" EXACT []
xref: UMLS:C1857453
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0008682
name: Acute tubular necrosis
def: "Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases." [HPO:probinson]
synonym: "Renal tubular necrosis" EXACT []
xref: MSH:D007683
xref: SNOMEDCT_US:35455006
xref: UMLS:C0022672
is_a: HP:0000091 ! Abnormal renal tubule morphology

[Term]
id: HP:0008683
name: Enlarged labia minora
alt_id: HP:0008662
alt_id: HP:0008694
def: "Increase in size of the folds of skin between the outer labia." [HPO:probinson]
synonym: "Hypertrophic labia minora" EXACT []
synonym: "Labia minora hypertrophy" EXACT []
xref: UMLS:C1849358
is_a: HP:0000065 ! Labial hypertrophy
is_a: HP:0012880 ! Abnormality of the labia minora

[Term]
id: HP:0008684
name: Aplasia/hypoplasia of the uterus
def: "Absence or developmental hypoplasia of the uterus." [HPO:probinson]
synonym: "Absent/small uterus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped uterus" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024640
is_a: HP:0000130 ! Abnormality of the uterus

[Term]
id: HP:0008687
name: Hypoplasia of the prostate
synonym: "Hypoplastic prostate" EXACT []
synonym: "Underdeveloped prostate" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1844923
is_a: HP:0008775 ! Abnormality of the prostate

[Term]
id: HP:0008689
name: Bilateral cryptorchidism
alt_id: HP:0008686
def: "Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson]
synonym: "Cryptorchidism, bilateral" EXACT []
xref: MSH:D003456
xref: SNOMEDCT_US:268228006
xref: UMLS:C0431663
is_a: HP:0000028 ! Cryptorchidism

[Term]
id: HP:0008691
name: Solitary bladder diverticulum
def: "Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder." [Eurenomics:fschaefer]
xref: UMLS:C4024639
is_a: HP:0000015 ! Bladder diverticulum

[Term]
id: HP:0008694
name: obsolete Hypertrophic labia minora
is_obsolete: true

[Term]
id: HP:0008695
name: Transient nephrotic syndrome
synonym: "Transient nephrosis" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024638
is_a: HP:0000100 ! Nephrotic syndrome

[Term]
id: HP:0008696
name: Renal hamartoma
def: "A disordered proliferation of mature tissues that are native to the kidneys." [DDD:rscott, HPO:probinson]
xref: UMLS:C1840396
is_a: HP:0009726 ! Renal neoplasm
is_a: HP:0010566 ! Hamartoma

[Term]
id: HP:0008697
name: Hypoplasia of the fallopian tube
def: "Developmental hypoplasia of the fallopian tube." [HPO:probinson]
synonym: "Rudimentary fallopian tubes" RELATED []
synonym: "Underdeveloped fallopian tube" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1968706
is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube

[Term]
id: HP:0008702
name: Absent internal genitalia
xref: UMLS:C4024637
is_a: HP:0000812 ! Abnormal internal genitalia

[Term]
id: HP:0008703
name: Gonadal calcification
def: "Deposition of calcium salts in gonadal tissue." [HPO:probinson]
xref: UMLS:C4024636
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0010766 ! Ectopic calcification

[Term]
id: HP:0008705
name: Ureteral triplication
xref: UMLS:C4024635
is_a: HP:0000073 ! Ureteral duplication

[Term]
id: HP:0008706
name: Distal urethral duplication
xref: UMLS:C4024634
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0008707
name: Absent scrotum
def: "Congenital absence of the scrotum." [HPO:probinson]
comment: Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately.
synonym: "Absent scrotum" EXACT layperson []
xref: SNOMEDCT_US:249233008
xref: UMLS:C0426320
is_a: HP:0000045 ! Abnormality of the scrotum

[Term]
id: HP:0008708
name: Partial development of the penile shaft
xref: UMLS:C1837379
is_a: HP:0000036 ! Abnormality of the penis

[Term]
id: HP:0008711
name: Benign prostatic hyperplasia
def: "The presence of non-malignant hyperplasia of the prostate." [HPO:probinson]
synonym: "Benign prostatic hypertrophy" EXACT []
xref: MSH:D011470
xref: SNOMEDCT_US:266569009
xref: UMLS:C0005001
xref: UMLS:C1704272
is_a: HP:0008775 ! Abnormality of the prostate

[Term]
id: HP:0008714
name: Ureterovesical stenosis
xref: UMLS:C4024633
is_a: HP:0000071 ! Ureteral stenosis

[Term]
id: HP:0008715
name: Testicular dysgenesis
xref: SNOMEDCT_US:253847002
xref: UMLS:C0302885
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0008716
name: Urethrovaginal fistula
def: "The presence of a fistula between the vagina and the urethra." [HPO:probinson]
synonym: "Urethrovaginal fistulae" EXACT []
xref: SNOMEDCT_US:50477003
xref: UMLS:C0269133
is_a: HP:0004320 ! Vaginal fistula
is_a: HP:0010480 ! Urethral fistula

[Term]
id: HP:0008717
name: Unilateral renal atrophy
def: "A unilateral form of atrophy of the kidney." [HPO:probinson]
synonym: "Kidney degeneration on one side" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Unilateral kidney wasting" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:424998002
xref: UMLS:C1827184
is_a: HP:0012585 ! Renal atrophy

[Term]
id: HP:0008718
name: Unilateral renal dysplasia
def: "A unilateral form of developmental dysplasia of the kidney." [HPO:probinson]
xref: SNOMEDCT_US:204951002
xref: UMLS:C0431697
is_a: HP:0000110 ! Renal dysplasia

[Term]
id: HP:0008720
name: Primary testicular failure
xref: SNOMEDCT_US:370997001
xref: SNOMEDCT_US:48723006
xref: UMLS:C1384582
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0008722
name: Urethral diverticulum
def: "The presence of a diverticulum (sac or pouch) in the wall of the urethra." [HPO:curators]
xref: SNOMEDCT_US:90531003
xref: UMLS:C0152443
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0008723
name: Gonadal dysgenesis with female appearance, male
def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation." [HPO:sdoelken]
comment: Very bad term - try to get rid of it later.
synonym: "Xy female gonadal dysgenesis" RELATED []
xref: UMLS:C4020788
xref: UMLS:C4024632
is_a: HP:0000133 ! Gonadal dysgenesis

[Term]
id: HP:0008724
name: Hypoplasia of the ovary
def: "Developmental hypoplasia of the ovary." [HPO:probinson]
synonym: "Hypoplastic ovary" RELATED []
synonym: "Underdeveloped ovary" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:93279005
xref: UMLS:C0685840
xref: UMLS:C1835452
is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary

[Term]
id: HP:0008726
name: Hypoplasia of the vagina
alt_id: HP:0011938
def: "Developmental hypoplasia of the vagina." [HPO:probinson]
synonym: "Hypoplastic vagina" RELATED []
synonym: "Rudimentary vagina" EXACT []
synonym: "Underdeveloped vagina" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:253836009
xref: UMLS:C0345309
xref: UMLS:C1442988
is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina

[Term]
id: HP:0008729
name: Absence of labia majora
synonym: "Absent vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849575
is_a: HP:0012881 ! Abnormality of the labia majora

[Term]
id: HP:0008730
name: Female external genitalia in individual with 46,XY karyotype
alt_id: HP:0008719
def: "The presence of female external genitalia in a person with a male karyotype." [HPO:probinson]
synonym: "Males with female external genitalia" EXACT []
xref: UMLS:C1848178
is_a: HP:0000032 ! Abnormality of male external genitalia

[Term]
id: HP:0008732
name: Renal hypophosphatemia
def: "Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion." [PMID:22392950, PMID:30180816]
comment: Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and movement of phosphate from the extracellular to intracellular compartments. The initial step in diagnosis involves determining whether hypophosphatemia is renal or nonrenal.
xref: UMLS:C4024631
is_a: HP:0002148 ! Hypophosphatemia

[Term]
id: HP:0008733
name: Dysplastic testes
xref: UMLS:C1837380
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0008734
name: Decreased testicular size
alt_id: HP:0000043
def: "Reduced volume of the testicle (the male gonad)." [HPO:probinson]
synonym: "Decreased testicular size" EXACT layperson []
synonym: "Hypoplastic testes" EXACT []
synonym: "Small testes" EXACT layperson []
synonym: "Small testis" EXACT layperson []
synonym: "Testicular hypoplasia" EXACT []
xref: SNOMEDCT_US:276411001
xref: UMLS:C0241355
is_a: HP:0000050 ! Hypoplastic male external genitalia
is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes

[Term]
id: HP:0008736
name: Hypoplasia of penis
alt_id: HP:0008632
synonym: "Underdeveloped penis" EXACT layperson []
xref: SNOMEDCT_US:34911001
xref: UMLS:C0266435
is_a: HP:0000036 ! Abnormality of the penis
is_a: HP:0000050 ! Hypoplastic male external genitalia

[Term]
id: HP:0008738
name: Partially duplicated kidney
def: "The presence of a partially duplicated kidney." [HPO:probinson]
synonym: "Partially duplicated kidney" EXACT layperson []
xref: UMLS:C4024630
is_a: HP:0000075 ! Renal duplication

[Term]
id: HP:0008739
name: Labial pseudohypertrophy
xref: UMLS:C1835380
is_a: HP:0000065 ! Labial hypertrophy

[Term]
id: HP:0008740
name: Longitudinal vaginal septum
alt_id: HP:0008698
def: "The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication." [HPO:curators]
synonym: "Vertical vaginal septum" EXACT []
xref: UMLS:C1841680
is_a: HP:0001153 ! Septate vagina

[Term]
id: HP:0008742
name: Prominent prostate median bar
xref: UMLS:C4024629
is_a: HP:0008775 ! Abnormality of the prostate

[Term]
id: HP:0008743
name: Coronal hypospadias
def: "A mild form of hypospadias in which the urethra opens just under the corona glandis." [HPO:probinson]
synonym: "Subcoronal hypospadias" RELATED []
xref: SNOMEDCT_US:429641000124109
xref: UMLS:C1394030
xref: UMLS:C4020787
is_a: HP:0000047 ! Hypospadias

[Term]
id: HP:0008744
name: Abnormality of the aryepiglottic fold
def: "An abnormality of the aryepiglottic fold." [HPO:probinson]
comment: The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage.
synonym: "Abnormal aryepiglottic folds" EXACT []
xref: UMLS:C1849357
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008747
name: Cartilaginous ossification of larynx
def: "Ossification affecting the set of cartilages of larynx." [HPO:probinson]
comment: This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage).
xref: UMLS:C1855622
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008749
name: Laryngeal hypoplasia
alt_id: HP:0005935
def: "Underdevelopment of the larynx." [HPO:probinson]
synonym: "Hypoplastic larynx" EXACT []
xref: SNOMEDCT_US:253736003
xref: UMLS:C0431527
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008750
name: Laryngeal atresia
def: "Congenital absence of the lumen of the larynx." [eMedicine:837630, HPO:probinson, pmid:17715321]
comment: Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth.
xref: SNOMEDCT_US:64981002
xref: UMLS:C0265756
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008751
name: Laryngeal cleft
def: "Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus." [HPO:probinson, pmid:17178945]
comment: Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft.
synonym: "Laryngotracheal cleft" EXACT []
synonym: "Laryngotracheoesophageal cleft i" EXACT []
xref: MSH:C537875
xref: SNOMEDCT_US:232461002
xref: UMLS:C1840311
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008752
name: Laryngeal cartilage malformation
alt_id: HP:0008375
def: "A malformation of the laryngeal cartilage." [HPO:probinson]
synonym: "Vocal impairment, severe, due to laryngeal cartilage abnormalities" EXACT []
xref: UMLS:C4021530
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008753
name: Aplasia of the epiglottis
def: "Absence of the epiglottis." [HPO:probinson]
synonym: "Absent epiglottis" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024628
is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis

[Term]
id: HP:0008754
name: Laryngeal calcification
alt_id: HP:0008748
def: "Calcification (abnormal deposits of calcium) in the laryngeal tissues." [HPO:probinson]
synonym: "Laryngeal calcifications" EXACT []
xref: UMLS:C1859158
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0025423 ! Abnormal larynx morphology

[Term]
id: HP:0008755
name: Laryngotracheomalacia
xref: SNOMEDCT_US:308232009
xref: UMLS:C0585984
is_a: HP:0002779 ! Tracheomalacia

[Term]
id: HP:0008756
name: Bowing of the vocal cords
def: "Bowing (abnormal curvature) of the vocal folds." [HPO:probinson]
xref: SNOMEDCT_US:232448002
xref: UMLS:C0396064
is_a: HP:0008777 ! Abnormal vocal cord morphology

[Term]
id: HP:0008757
name: Unilateral vocal cord paralysis
def: "A loss of the ability to move the vocal fold on one side." [HPO:probinson]
synonym: "Unilateral paralysis of the vocal cord" EXACT []
xref: MSH:D014826
xref: UMLS:C0751575
is_a: HP:0001605 ! Vocal cord paralysis

[Term]
id: HP:0008760
name: Violent behavior
synonym: "Violent behavior" EXACT layperson []
xref: SNOMEDCT_US:248004009
xref: UMLS:C0424323
is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior

[Term]
id: HP:0008762
name: Repetitive compulsive behavior
synonym: "Repetitive compulsive behavior" EXACT layperson []
xref: UMLS:C1969697
is_a: HP:0000733 ! Stereotypy

[Term]
id: HP:0008763
name: No social interaction
synonym: "No social interaction" EXACT layperson []
xref: UMLS:C1849683
is_a: HP:0000735 ! Impaired social interactions

[Term]
id: HP:0008765
name: Auditory hallucinations
alt_id: HP:0000714
synonym: "Hallucinations of sound" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hearing sounds" EXACT layperson []
xref: MSH:D006212
xref: SNOMEDCT_US:45150006
xref: UMLS:C0233762
is_a: HP:0000738 ! Hallucinations

[Term]
id: HP:0008767
name: Self-mutilation of tongue and lips due to involuntary movements
synonym: "Self-mutilation of tongue and lips due to involuntary movements" EXACT layperson []
xref: UMLS:C1860219
is_a: HP:0000742 ! Self-mutilation
is_a: HP:0004305 ! Involuntary movements

[Term]
id: HP:0008768
name: Inappropriate sexual behavior
synonym: "Inappropriate sexual behavior" EXACT layperson []
xref: SNOMEDCT_US:248099006
xref: UMLS:C0474420
is_a: HP:0000719 ! Inappropriate behavior

[Term]
id: HP:0008770
name: Obsessive-compulsive trait
alt_id: HP:0008761
def: "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant." [HPO:curators]
synonym: "Obsessive-compulsive trait" EXACT layperson []
synonym: "Obsessive-compulsive traits" EXACT layperson []
xref: UMLS:C1834433
is_a: HP:0000722 ! Obsessive-compulsive behavior

[Term]
id: HP:0008771
name: Aplasia/Hypoplasia of the ear
def: "The presence of aplasia or developmental hypoplasia of the ear." [HPO:probinson]
synonym: "Absent/small ear" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped ear" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024627
is_a: HP:0031703 ! Abnormal ear morphology
created_by: peter
creation_date: 2008-04-04T05:44:00Z

[Term]
id: HP:0008772
name: Aplasia/Hypoplasia of the external ear
def: "The presence of aplasia or developmental hypoplasia of all or part of the external ear." [HPO:probinson]
synonym: "Absent/small external ear" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped external ear" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024626
is_a: HP:0000356 ! Abnormality of the outer ear
is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear
created_by: peter
creation_date: 2008-04-04T05:45:00Z

[Term]
id: HP:0008773
name: Aplasia/Hypoplasia of the middle ear
alt_id: HP:0008533
alt_id: HP:0008548
def: "Aplasia or developmental hypoplasia of all or part of the middle ear." [HPO:probinson]
synonym: "Absent/small middle ear" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle ear" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypoplastic/aplastic middle ear structures" EXACT []
synonym: "Middle ear hypoplasia/aplasia" EXACT []
xref: UMLS:C4021529
is_a: HP:0008609 ! Morphological abnormality of the middle ear
is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear
created_by: peter
creation_date: 2008-04-04T05:47:00Z

[Term]
id: HP:0008774
name: Aplasia/Hypoplasia of the inner ear
def: "Aplasia or developmental hypoplasia of the inner ear." [HPO:probinson]
synonym: "Absent/small inner ear" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped inner ear" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024625
is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear
is_a: HP:0011390 ! Morphological abnormality of the inner ear
created_by: peter
creation_date: 2008-04-04T05:48:00Z

[Term]
id: HP:0008775
name: Abnormality of the prostate
def: "An abnormality of the prostate." [HPO:probinson]
synonym: "Abnormality of the prostate" EXACT layperson []
xref: UMLS:C0747987
is_a: HP:0000022 ! Abnormality of male internal genitalia
created_by: peter
creation_date: 2008-04-04T06:01:00Z

[Term]
id: HP:0008776
name: Abnormal renal artery morphology
def: "Any structural abnormality of the renal artery." [HPO:probinson]
synonym: "Abnormal kidney artery" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the renal artery" EXACT []
xref: UMLS:C4024624
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:0012210 ! Abnormal renal morphology
created_by: peter
creation_date: 2008-04-04T06:13:00Z

[Term]
id: HP:0008777
name: Abnormal vocal cord morphology
def: "An abnormality of the vocal cord." [HPO:probinson]
comment: The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx.
synonym: "Abnormality of the vocal cords" EXACT layperson []
xref: UMLS:C0262665
is_a: HP:0025423 ! Abnormal larynx morphology
created_by: peter
creation_date: 2008-04-04T06:18:00Z

[Term]
id: HP:0008780
name: Congenital bilateral hip dislocation
xref: SNOMEDCT_US:10155006
xref: UMLS:C0158713
is_a: HP:0001374 ! Congenital hip dislocation

[Term]
id: HP:0008783
name: Wide proximal femoral metaphysis
alt_id: HP:0008790
def: "Increased width of the proximal part of the shaft (metaphysis) of the femur." [HPO:probinson]
synonym: "Wide metaphysis of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024623
is_a: HP:0006417 ! Broad femoral metaphyses
is_a: HP:0006431 ! Proximal femoral metaphyseal abnormality

[Term]
id: HP:0008784
name: Wide capital femoral epiphyses
def: "Abnormally wide morphology of the proximal epiphysis of the femur." [HPO:probinson]
synonym: "Wide end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024622
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0008785
name: Delayed ossification of pubic rami
def: "Delayed maturation and calcification of the rami (branches) of the pubic bone." [HPO:probinson]
xref: UMLS:C1865363
is_a: HP:0009105 ! Abnormal ossification of the pubic bone

[Term]
id: HP:0008786
name: Iliac crest serration
alt_id: HP:0008825
def: "Irregularities of the iliac crest that produce the appearance of a lace border around it." [HPO:probinson]
synonym: "Irregular lacy iliac crest" EXACT []
synonym: "Lacy appearance of iliac crest" EXACT []
xref: UMLS:C1857186
is_a: HP:0003796 ! Irregular iliac crest

[Term]
id: HP:0008788
name: Delayed pubic bone ossification
alt_id: HP:0008795
alt_id: HP:0008827
def: "Delayed maturation and calcification of the pubic bone." [HPO:probinson]
subset: hposlim_core
synonym: "Absent pubic ossification in infancy" EXACT []
synonym: "Delayed maturation fo pubic bone" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Delayed mineralization of pubic bone" RELATED layperson []
xref: UMLS:C1861528
xref: UMLS:C1866710
xref: UMLS:C4280411
is_a: HP:0009105 ! Abnormal ossification of the pubic bone

[Term]
id: HP:0008789
name: Cone-shaped capital femoral epiphysis
def: "A cone-shaped deformity of the proximal epiphysis of the femur." [HPO:probinson]
synonym: "Cone-shaped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846157
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0010579 ! Cone-shaped epiphysis

[Term]
id: HP:0008794
name: Dysplastic iliac wings
xref: UMLS:C1837487
is_a: HP:0011867 ! Abnormality of the wing of the ilium

[Term]
id: HP:0008796
name: Externally rotated hips
synonym: "Externally rotated hips" EXACT layperson []
xref: UMLS:C1846339
is_a: HP:0003783 ! Externally rotated/abducted legs

[Term]
id: HP:0008797
name: Early ossification of capital femoral epiphyses
def: "Developmental acceleration of ossification of the proximal epiphysis of the femur." [HPO:probinson]
xref: UMLS:C4024621
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0008798
name: Widened sacrosciatic notch
def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch." [HPO:probinson]
xref: UMLS:C4024620
is_a: HP:0030266 ! Abnormality of the sacroiliac notch

[Term]
id: HP:0008800
name: Limited hip movement
def: "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip." [HPO:probinson]
synonym: "Limited hip movement" EXACT layperson []
xref: UMLS:C1851542
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology

[Term]
id: HP:0008801
name: Hypoplasia of the lesser trochanter
def: "Underdevelopment of the lesser trochanter." [HPO:probinson]
synonym: "Lesser trochanter hypoplasia" EXACT []
xref: UMLS:C1840062
is_a: HP:0003366 ! Abnormality of the femoral neck or head region

[Term]
id: HP:0008802
name: Hypoplasia of the femoral head
alt_id: HP:0008831
def: "Underdevelopment of the femoral head." [HPO:probinson]
synonym: "Hypoplastic femoral head" EXACT []
synonym: "Small femoral heads" EXACT []
synonym: "Small head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856920
is_a: HP:0003368 ! Abnormality of the femoral head
is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck

[Term]
id: HP:0008803
name: Narrow sacroiliac notch
def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch." [HPO:probinson]
xref: UMLS:C1850087
is_a: HP:0030266 ! Abnormality of the sacroiliac notch

[Term]
id: HP:0008804
name: Broad femoral head
def: "Increased width of the femoral head." [HPO:probinson]
synonym: "Wide head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024619
is_a: HP:0003368 ! Abnormality of the femoral head

[Term]
id: HP:0008807
name: Acetabular dysplasia
alt_id: HP:0008799
def: "The presence of developmental dysplasia of the acetabular part of hip bone." [HPO:probinson]
synonym: "Dysplastic acetabulae" EXACT []
xref: MSH:D006617
xref: UMLS:C1328407
is_a: HP:0003170 ! Abnormality of the acetabulum

[Term]
id: HP:0008808
name: High iliac wings
alt_id: HP:0008778
def: "Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:probinson]
synonym: "Narrow, high iliac wings" EXACT []
xref: UMLS:C1969680
is_a: HP:0011867 ! Abnormality of the wing of the ilium

[Term]
id: HP:0008812
name: Flattened femoral head
def: "An abnormally flattened femoral head." [HPO:probinson]
synonym: "Flat head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Flattened femoral heads" RELATED [HPO:skoehler]
xref: UMLS:C1860601
is_a: HP:0003368 ! Abnormality of the femoral head

[Term]
id: HP:0008817
name: Aplastic pubic bones
synonym: "Absent pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1848660
is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone

[Term]
id: HP:0008818
name: Large iliac wings
def: "Increased size of the ilium ala." [HPO:probinson]
xref: UMLS:C4024618
is_a: HP:0011867 ! Abnormality of the wing of the ilium

[Term]
id: HP:0008819
name: Narrow femoral neck
def: "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson]
synonym: "Narrow femoral necks" RELATED [HPO:skoehler]
synonym: "Narrow neck of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1863739
is_a: HP:0003367 ! Abnormality of the femoral neck

[Term]
id: HP:0008820
name: Absent ossification of capital femoral epiphysis
def: "Lack of ossification of the proximal epiphysis of the femur." [HPO:probinson]
comment: The ossification center of the capital femoral epiphysis appears at the end of the first year after birth.
synonym: "Absent ossification of femoral capital epiphyses" EXACT []
xref: UMLS:C1968686
is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck
is_a: HP:0010656 ! Abnormal epiphyseal ossification

[Term]
id: HP:0008821
name: Hypoplastic inferior ilia
xref: UMLS:C1837078
is_a: HP:0000946 ! Hypoplastic ilia

[Term]
id: HP:0008822
name: Hypoplastic ischiopubic rami
def: "Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium." [HPO:probinson]
xref: UMLS:C4024617
is_a: HP:0003173 ! Hypoplastic pubic bone
is_a: HP:0003175 ! Hypoplastic ischia

[Term]
id: HP:0008823
name: Hypoplastic inferior pubic rami
xref: UMLS:C1853573
is_a: HP:0003173 ! Hypoplastic pubic bone

[Term]
id: HP:0008824
name: Hypoplastic iliac body
alt_id: HP:0005740
def: "Underdevelopment of the body of ilium." [HPO:probinson]
synonym: "Hypoplastic iliac bodies" EXACT [HPO:skoehler]
synonym: "Small iliac bodies" EXACT [HPO:skoehler]
xref: UMLS:C1849034
is_a: HP:0000946 ! Hypoplastic ilia

[Term]
id: HP:0008826
name: Dislocation of the femoral head
def: "Joint dislocation of the femoral head." [HPO:probinson]
synonym: "Dislocated femoral heads" EXACT []
synonym: "Dislocated head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1859446
is_a: HP:0003368 ! Abnormality of the femoral head
is_a: HP:0030311 ! Lower extremity joint dislocation

[Term]
id: HP:0008828
name: Delayed proximal femoral epiphyseal ossification
def: "Developmental delay of ossification of the proximal epiphysis of the femur." [HPO:probinson]
comment: The proximal femoral epiphyseal ossification center normally appears at about age 6 months.
synonym: "Delayed ossification of the proximal femoral epiphysis" EXACT []
synonym: "Delayed ossification proximal femoral epiphyses" EXACT []
xref: UMLS:C1855222
is_a: HP:0002663 ! Delayed epiphyseal ossification
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck
is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head

[Term]
id: HP:0008829
name: Delayed femoral head ossification
def: "Delayed ossification of the femoral head." [HPO:probinson]
synonym: "Delayed maturation of the head of the thigh bone" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846446
xref: UMLS:C4280410
is_a: HP:0003368 ! Abnormality of the femoral head
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck

[Term]
id: HP:0008830
name: Hypoplastic pubic rami
xref: UMLS:C1969176
is_a: HP:0003173 ! Hypoplastic pubic bone

[Term]
id: HP:0008833
name: Irregular acetabular roof
xref: UMLS:C1834975
is_a: HP:0003170 ! Abnormality of the acetabulum

[Term]
id: HP:0008835
name: Multicentric femoral head ossification
def: "There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers." [HPO:probinson]
comment: Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to.
xref: UMLS:C1846447
is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck

[Term]
id: HP:0008838
name: Stippled calcification proximal humeral epiphyses
synonym: "Speckled calcifications in end part of innermost long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1857243
is_a: HP:0003901 ! Stippled calcification of the humeral epiphyses

[Term]
id: HP:0008839
name: Hypoplastic pelvis
alt_id: HP:0003373
alt_id: HP:0008816
def: "Underdevelopment of the bony pelvis." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic pelvic bones" EXACT []
synonym: "Small pelvis" EXACT []
xref: UMLS:C3536734
is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis

[Term]
id: HP:0008843
name: Hip osteoarthritis
alt_id: HP:0008809
synonym: "Osteoarthritis of hip" EXACT []
xref: MSH:D015207
xref: SNOMEDCT_US:239872002
xref: UMLS:C0029410
is_a: HP:0002758 ! Osteoarthritis

[Term]
id: HP:0008845
name: Mesomelic short stature
alt_id: HP:0008896
alt_id: HP:0008903
alt_id: HP:0008910
def: "A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg)." [HPO:probinson]
synonym: "Dwarfism, short limb mesomelic" EXACT []
synonym: "Mesomelic dwarfism" EXACT HP:0031859 []
synonym: "Short stature, disproportionate mesomelic" EXACT []
synonym: "Short stature, mesomelic" EXACT []
xref: UMLS:C1855274
is_a: HP:0008873 ! Disproportionate short-limb short stature

[Term]
id: HP:0008846
name: Severe intrauterine growth retardation
alt_id: HP:0008899
alt_id: HP:0008906
def: "Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age." [HPO:probinson]
synonym: "Intrauterine growth retardation, severe" EXACT []
synonym: "Severe prenatal growth deficiency" EXACT layperson []
xref: UMLS:C1855843
is_a: HP:0001511 ! Intrauterine growth retardation

[Term]
id: HP:0008848
name: Moderately short stature
alt_id: HP:0008891
def: "A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex." [DDD:hfirth]
synonym: "Moderate short stature" EXACT layperson []
synonym: "Short stature, moderate" RELATED [HPO:skoehler]
xref: UMLS:C1861519
is_a: HP:0003508 ! Proportionate short stature

[Term]
id: HP:0008850
name: Severe postnatal growth retardation
alt_id: HP:0001521
alt_id: HP:0008854
alt_id: HP:0008911
alt_id: HP:0008932
def: "Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms." [DDD:hfirth]
synonym: "Marked growth retardation" EXACT layperson []
synonym: "Severe growth delay in children" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Severe postnatal growth deficiency" EXACT []
synonym: "Severe postnatal growth failure" EXACT layperson []
xref: UMLS:C1857641
is_a: HP:0008897 ! Postnatal growth retardation

[Term]
id: HP:0008855
name: Moderate postnatal growth retardation
def: "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms." [DDD:hfirth]
synonym: "Moderate growth delay in children" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024616
is_a: HP:0008897 ! Postnatal growth retardation

[Term]
id: HP:0008857
name: Neonatal short-trunk short stature
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth." [HPO:probinson]
synonym: "Short-trunk dwarfism identifiable at birth" EXACT []
xref: UMLS:C3149908
is_a: HP:0003521 ! Disproportionate short-trunk short stature

[Term]
id: HP:0008866
name: Failure to thrive secondary to recurrent infections
def: "Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections." [https://en.wikipedia.org/wiki/Failure_to_thrive]
synonym: "Faltering weight secondary to recurrent infections" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Weight faltering secondary to recurrent infections" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1832323
is_a: HP:0001508 ! Failure to thrive
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0032169 ! Severe infection

[Term]
id: HP:0008872
name: Feeding difficulties in infancy
alt_id: HP:0002016
alt_id: HP:0002022
alt_id: HP:0002568
def: "Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [HPO:probinson]
xref: UMLS:C2674608
is_a: HP:0011968 ! Feeding difficulties

[Term]
id: HP:0008873
name: Disproportionate short-limb short stature
alt_id: HP:0001523
alt_id: HP:0003505
alt_id: HP:0003509
alt_id: HP:0008858
alt_id: HP:0008869
alt_id: HP:0008875
alt_id: HP:0008880
alt_id: HP:0008881
alt_id: HP:0008889
alt_id: HP:0008912
alt_id: HP:0008914
alt_id: HP:0008928
def: "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk." [HPO:probinson]
comment: A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs).
subset: hposlim_core
synonym: "Brachymelic dwarfism" EXACT []
synonym: "Disproportionate short limb dwarfism" EXACT []
synonym: "Dwarfism, short-limbed" EXACT []
synonym: "Micromelic dwarfism" EXACT []
synonym: "Short limb dwarfism" RELATED layperson [HPO:skoehler]
synonym: "Short limb dwarfism, disproportionate" EXACT layperson []
synonym: "Short stature, disproportionate short limb" EXACT []
synonym: "Short stature, disproportionate short-limb" EXACT []
synonym: "Short-limb dwarfism" EXACT []
synonym: "Short-limbed dwarfism" EXACT layperson []
xref: UMLS:C1849937
is_a: HP:0003498 ! Disproportionate short stature

[Term]
id: HP:0008883
name: Mild intrauterine growth retardation
alt_id: HP:0008861
def: "Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age." [DDD:hfirth]
synonym: "Mild prenatal growth deficiency" EXACT []
xref: UMLS:C1840006
is_a: HP:0001511 ! Intrauterine growth retardation

[Term]
id: HP:0008887
name: Adipose tissue loss
alt_id: HP:0008938
def: "A loss of adipose tissue." [HPO:probinson]
synonym: "Loss of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024615
is_a: HP:0040063 ! Decreased adipose tissue

[Term]
id: HP:0008890
name: Severe short-limb dwarfism
xref: UMLS:C1860105
is_a: HP:0008873 ! Disproportionate short-limb short stature

[Term]
id: HP:0008897
name: Postnatal growth retardation
alt_id: HP:0008844
alt_id: HP:0008865
alt_id: HP:0008868
alt_id: HP:0008901
alt_id: HP:0008918
def: "Slow or limited growth after birth." [DDD:hfirth]
synonym: "Growth delay as children" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Growth retardation as children" EXACT []
synonym: "Postnatal growth deceleration" EXACT []
synonym: "Postnatal growth deficiency" EXACT []
synonym: "Postnatal growth failure" EXACT []
xref: UMLS:C1859778
is_a: HP:0001510 ! Growth delay

[Term]
id: HP:0008905
name: Rhizomelia
alt_id: HP:0002968
alt_id: HP:0003520
alt_id: HP:0008852
alt_id: HP:0008877
def: "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." [HPO:probinson]
subset: hposlim_core
synonym: "Disproportionately short upper portion of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Rhizomelic dwarfism" EXACT []
synonym: "Rhizomelic limb shortening" EXACT []
synonym: "Rhizomelic short limbs" EXACT []
synonym: "Rhizomelic short stature" EXACT []
synonym: "Rhizomelic shortening" EXACT []
synonym: "Short stature, rhizomelic" EXACT []
synonym: "Symmetrical rhizomelic limb shortening" EXACT []
xref: UMLS:C1866730
is_a: HP:0008873 ! Disproportionate short-limb short stature
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0008909
name: Lethal short-limbed short stature
alt_id: HP:0003506
synonym: "Lethal micromelic dwarfism" EXACT []
synonym: "Lethal short-limbed dwarfism" EXACT []
xref: UMLS:C2674171
is_a: HP:0008873 ! Disproportionate short-limb short stature

[Term]
id: HP:0008915
name: Childhood-onset truncal obesity
alt_id: HP:0008874
def: "Truncal obesity with onset during childhood, defined as between 2 and 10 years of age." [HPO:probinson]
synonym: "Truncal obesity apparent in childhood" EXACT []
xref: UMLS:C1859846
is_a: HP:0001956 ! Truncal obesity

[Term]
id: HP:0008921
name: Neonatal short-limb short stature
alt_id: HP:0001536
alt_id: HP:0008894
alt_id: HP:0008902
alt_id: HP:0008924
def: "A type of short-limbed dwarfism that is manifest beginning in the neonatal period." [HPO:probinson]
synonym: "Dwarfism, neonatal short-limbed" EXACT []
synonym: "Neonatal short-limbed dwarfism" EXACT []
synonym: "Short limb dwarfism recognizable at birth" EXACT layperson []
synonym: "Short-limb dwarfism identifiable at birth" EXACT layperson []
synonym: "Short-limb dwarfism identifiable neonatally" EXACT []
synonym: "Short-limbed dwarfism identifiable at birth" EXACT layperson []
xref: UMLS:C1850171
is_a: HP:0008873 ! Disproportionate short-limb short stature

[Term]
id: HP:0008922
name: Childhood-onset short-trunk short stature
alt_id: HP:0003522
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood." [HPO:probinson]
synonym: "Childhood-onset short-trunk short stature" EXACT layperson []
synonym: "Disproportionate short-trunk short stature, identifiable in childhood" EXACT layperson []
synonym: "Short-trunk dwarfism identifiable during childhood" EXACT layperson []
xref: UMLS:C3148833
is_a: HP:0003521 ! Disproportionate short-trunk short stature

[Term]
id: HP:0008929
name: Asymmetric short stature
xref: UMLS:C4024614
is_a: HP:0004322 ! Short stature

[Term]
id: HP:0008935
name: Generalized neonatal hypotonia
def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature." [HPO:probinson]
synonym: "Generalized low muscle tone in neonate" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypotonia, neonatal, generalized" EXACT []
xref: UMLS:C1845123
is_a: HP:0001319 ! Neonatal hypotonia

[Term]
id: HP:0008936
name: Muscular hypotonia of the trunk
alt_id: HP:0002320
def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators]
synonym: "Axial hypotonia" EXACT []
synonym: "Low muscle tone in trunk" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Truncal hypotonia" EXACT []
xref: UMLS:C1853743
is_a: HP:0001252 ! Muscular hypotonia

[Term]
id: HP:0008940
name: Generalized lymphadenopathy
def: "A generalized form of lymphadenopathy." [HPO:probinson]
synonym: "Generalized swelling of lymph nodes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Swollen lymph nodes affecting all regions of the body" EXACT layperson []
xref: SNOMEDCT_US:274741002
xref: UMLS:C0476486
is_a: HP:0002716 ! Lymphadenopathy

[Term]
id: HP:0008942
name: Acute rhabdomyolysis
def: "An acute form of rhabdomyolysis." [HPO:probinson]
synonym: "Rhabdomyolysis, acute" EXACT []
xref: UMLS:C3807306
is_a: HP:0003201 ! Rhabdomyolysis

[Term]
id: HP:0008944
name: Distal lower limb amyotrophy
alt_id: HP:0003442
alt_id: HP:0003714
alt_id: HP:0006975
alt_id: HP:0008949
alt_id: HP:0009001
def: "Muscular atrophy of distal leg muscles." [HPO:probinson]
comment: Distal lower limb muscle atrophy is commonly due to peripheral neuropathy.
synonym: "Lower leg amyotrophy" EXACT []
synonym: "Lower limb atrophy" RELATED []
synonym: "Lower limb degeneration" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Lower limb muscle hypotrophy" RELATED []
synonym: "Muscle atrophy, lower limb, distal" EXACT []
xref: UMLS:C1836451
xref: UMLS:C1866863
xref: UMLS:C3806644
is_a: HP:0003693 ! Distal amyotrophy
is_a: HP:0007210 ! Lower limb amyotrophy

[Term]
id: HP:0008945
name: Loss of ability to walk in early childhood
xref: UMLS:C1835993
is_a: HP:0006915 ! Inability to walk by childhood/adolescence

[Term]
id: HP:0008946
name: Pelvic girdle amyotrophy
def: "Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle." [HPO:probinson]
synonym: "Hip girdle amyotrophy" EXACT []
xref: UMLS:C4021528
is_a: HP:0003797 ! Limb-girdle muscle atrophy

[Term]
id: HP:0008947
name: Infantile muscular hypotonia
alt_id: HP:0002449
alt_id: HP:0002523
alt_id: HP:0010572
def: "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators]
comment: This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly.
synonym: "Decreased muscle tone in infant" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypotonia early" EXACT []
synonym: "Hypotonia in infancy" EXACT []
synonym: "Hypotonia, early" EXACT []
synonym: "Infantile hypotonia" EXACT []
xref: UMLS:C1860834
is_a: HP:0001252 ! Muscular hypotonia

[Term]
id: HP:0008948
name: Proximal upper limb amyotrophy
alt_id: HP:0008995
def: "Muscular atrophy affecting proximally located muscles of the arms." [HPO:curators]
synonym: "Proximal muscle atrophy in upper limbs" EXACT []
synonym: "Proximal upper limb muscle atrophy" EXACT []
xref: UMLS:C1866013
is_a: HP:0001457 ! Abnormality of the musculature of the upper arm
is_a: HP:0007126 ! Proximal amyotrophy

[Term]
id: HP:0008952
name: Shoulder muscle hypoplasia
def: "Underdevelopment of muscles of the shoulder." [HPO:probinson]
synonym: "Underdeveloped shoulder muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1969001
is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0008953
name: Pectoralis major hypoplasia
def: "Underdevelopment of the pectoralis major." [HPO:probinson]
comment: The pectoralis major is a thick, fan-shaped muscle of the anterior chest.
synonym: "Pectoralis major muscle hypoplasia" EXACT []
xref: UMLS:C1840086
is_a: HP:0011957 ! Abnormal pectoral muscle morphology

[Term]
id: HP:0008954
name: Intrinsic hand muscle atrophy
def: "Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles." [HPO:probinson]
xref: UMLS:C1864716
is_a: HP:0009130 ! Hand muscle atrophy

[Term]
id: HP:0008955
name: Progressive distal muscular atrophy
def: "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
xref: UMLS:C4024613
is_a: HP:0003693 ! Distal amyotrophy

[Term]
id: HP:0008956
name: Proximal lower limb amyotrophy
alt_id: HP:0003748
alt_id: HP:0008974
def: "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh." [HPO:probinson]
synonym: "Amyotrophy involving the thigh" EXACT []
synonym: "Amyotrophy of the thigh musculature" EXACT []
synonym: "Proximal lower limb muscle atrophy" EXACT []
synonym: "Thigh muscle atrophy" EXACT []
synonym: "Wasting of thigh muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836767
is_a: HP:0001441 ! Abnormality of the musculature of the thigh
is_a: HP:0007126 ! Proximal amyotrophy

[Term]
id: HP:0008959
name: Distal upper limb muscle weakness
def: "Reduced strength of the distal musculature of the arms." [HPO:probinson]
xref: UMLS:C3150620
is_a: HP:0002460 ! Distal muscle weakness
is_a: HP:0002817 ! Abnormality of the upper limb

[Term]
id: HP:0008962
name: Calf muscle hypoplasia
def: "Underdevelopment of the muscuklature of the calf." [HPO:probinson]
synonym: "Hypoplastic calf muscles" EXACT []
synonym: "Underdeveloped calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3805450
is_a: HP:0001430 ! Abnormality of the calf musculature
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0008963
name: Tibialis muscle weakness
def: "Muscle weakness affecting the tibialis anterior muscle." [HPO:probinson]
comment: This is a bundled term which should be made obsolete.
xref: UMLS:C4024612
is_a: HP:0009053 ! Distal lower limb muscle weakness

[Term]
id: HP:0008964
name: Nonprogressive muscular atrophy
def: "Muscular atrophy that does not display a progression in severity with time." [HPO:curators]
xref: UMLS:C4024611
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0008967
name: Exercise-induced muscle stiffness
alt_id: HP:0003633
def: "A type of muscle stiffness that occurs following physical exertion." [HPO:probinson]
synonym: "Exercise-induced muscle stiffness" EXACT layperson []
synonym: "Muscle stiffness with exercise" EXACT layperson []
synonym: "Muscle stiffness, exercise-induced" EXACT layperson []
xref: UMLS:C1855579
is_a: HP:0003552 ! Muscle stiffness

[Term]
id: HP:0008968
name: Muscle hypertrophy of the lower extremities
def: "Muscle hypertrophy primarily affecting the legs." [HPO:curators]
xref: UMLS:C1850663
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
is_a: HP:0003712 ! Skeletal muscle hypertrophy

[Term]
id: HP:0008969
name: Leg muscle stiffness
xref: UMLS:C4024610
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
is_a: HP:0003552 ! Muscle stiffness

[Term]
id: HP:0008970
name: Scapulohumeral muscular dystrophy
xref: MSH:C562932
xref: SNOMEDCT_US:240074006
xref: UMLS:C0410192
is_a: HP:0003560 ! Muscular dystrophy

[Term]
id: HP:0008972
name: Decreased activity of mitochondrial respiratory chain
def: "Decreased activity of the mitochondrial respiratory chain." [HPO:probinson]
synonym: "Decreased activities of mitochondrial-encoded respiratory chain complexes" RELATED [HPO:skoehler]
synonym: "Decreased activity of mitochondrial respiratory complexes" RELATED [HPO:skoehler]
xref: UMLS:C1835995
xref: UMLS:C3276441
xref: UMLS:C4024609
is_a: HP:0011922 ! Abnormal activity of mitochondrial respiratory chain

[Term]
id: HP:0008978
name: Necrotizing myopathy
xref: UMLS:C4024608
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0008981
name: Calf muscle hypertrophy
alt_id: HP:0003703
alt_id: HP:0009024
def: "Muscle hypertrophy affecting the calf muscles." [HPO:curators]
comment: Distal lower limb hypertrophy
synonym: "Calf hypertrophy" EXACT []
synonym: "Increased size of calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Muscular hypertrophy of the calf muscles" EXACT []
xref: UMLS:C1843057
is_a: HP:0001430 ! Abnormality of the calf musculature
is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities

[Term]
id: HP:0008984
name: Neck muscle hypoplasia
def: "Underdevelopment of muscles of the neck." [HPO:curators]
synonym: "Decreased size of neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of neck muscle" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic neck muscle" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1969000
xref: UMLS:C4280408
xref: UMLS:C4280409
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0008985
name: Increased intramuscular fat
def: "An abnormal increase in the amount of intramuscular fat tissue." [HPO:curators]
synonym: "Increased IM fat" EXACT HP:0045077 []
synonym: "Increased intramuscular fat" EXACT layperson []
xref: UMLS:C1835389
is_a: HP:0009126 ! Increased adipose tissue
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0008986
name: Agenesis of the diaphragm
def: "Congenital lack, i.e., aplasia of the diaphragm." [HPO:probinson]
comment: An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity.
synonym: "Absent diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Agenesis of diaphragm" RELATED []
xref: SNOMEDCT_US:702613006
xref: SNOMEDCT_US:72424001
xref: UMLS:C0221360
is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm

[Term]
id: HP:0008988
name: Pelvic girdle muscle atrophy
alt_id: HP:0008992
def: "Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles)." [HPO:curators]
synonym: "Pelvic girdle muscle wasting" EXACT []
xref: UMLS:C0240679
is_a: HP:0001445 ! Abnormality of the hip-girdle musculature
is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis

[Term]
id: HP:0008991
name: Exercise-induced leg cramps
def: "Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion." [HPO:probinson]
xref: UMLS:C4024607
is_a: HP:0003710 ! Exercise-induced muscle cramps

[Term]
id: HP:0008993
name: Increased intraabdominal fat
def: "An abnormal increase in the amount of intraabdominal fat tissue." [HPO:curators]
xref: UMLS:C1835390
is_a: HP:0009126 ! Increased adipose tissue

[Term]
id: HP:0008994
name: Proximal muscle weakness in lower limbs
alt_id: HP:0002455
alt_id: HP:0008941
def: "A lack of strength of the proximal muscles of the legs." [HPO:probinson]
synonym: "Muscle weakness, proximal, lower limbs" EXACT []
xref: UMLS:C1866010
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
is_a: HP:0003690 ! Limb muscle weakness
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0008997
name: Proximal muscle weakness in upper limbs
def: "A lack of strength of the proximal muscles of the arms." [HPO:probinson]
xref: UMLS:C1866012
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0003484 ! Upper limb muscle weakness
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0008998
name: Pectoralis hypoplasia
def: "Underdevelopment of the pectoral muscle." [HPO:probinson]
synonym: "Hypoplastic pectoral muscle" EXACT []
synonym: "Small pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846477
is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0009002
name: Loss of truncal subcutaneous adipose tissue
alt_id: HP:0008989
def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk." [HPO:probinson]
synonym: "Loss of fat tissue in trunk" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Loss of subcutaneous truncal adipose tissue" EXACT []
synonym: "Loss of truncal adipose tissue" EXACT []
xref: UMLS:C1835384
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0009003
name: Increased subcutaneous truncal adipose tissue
def: "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body." [HPO:curators]
synonym: "Increased fat below the skin in trunk" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1837781
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue
is_a: HP:0009126 ! Increased adipose tissue

[Term]
id: HP:0009004
name: Hypoplasia of the musculature
alt_id: HP:0009034
def: "Underdevelopment of the musculature." [HPO:sdoelken]
synonym: "Muscle hypoplasia" EXACT []
synonym: "Poorly developed skeletal musculature" EXACT layperson []
synonym: "Underdeveloped muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:205530002
xref: UMLS:C0240414
is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature

[Term]
id: HP:0009005
name: Weakness of the intrinsic hand muscles
synonym: "Intrinsic hand muscles weakness" RELATED []
xref: UMLS:C1834536
is_a: HP:0001421 ! Abnormality of the musculature of the hand

[Term]
id: HP:0009007
name: Biceps hypoplasia
def: "Underdevelopment of the biceps muscle." [HPO:curators]
synonym: "Hypoplastic biceps" EXACT []
synonym: "Underdeveloped biceps" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1862499
is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps
is_a: HP:0030239 ! Hypoplasia of the upper arm musculature

[Term]
id: HP:0009011
name: Hypoplasia of serratus anterior muscle
def: "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula." [HPO:curators]
xref: UMLS:C1868167
is_a: HP:0009131 ! Abnormality of the musculature of the thorax

[Term]
id: HP:0009013
name: Congenital absence of gluteal muscles
xref: MSH:C535561
xref: UMLS:C2930932
is_a: HP:0001443 ! Abnormality of the gluteal musculature
is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis

[Term]
id: HP:0009016
name: Upper limb muscle hypoplasia
def: "Underdevelopment of muscles of the arm." [HPO:curators]
synonym: "Underdevelopment of upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846478
is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs
is_a: HP:0009004 ! Hypoplasia of the musculature

[Term]
id: HP:0009017
name: Loss of gluteal subcutaneous adipose tissue
def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region." [HPO:probinson]
synonym: "Loss of fat tissue below the skin in gluts" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024606
is_a: HP:0008887 ! Adipose tissue loss

[Term]
id: HP:0009019
name: Progressive loss of facial adipose tissue
synonym: "Atrophy of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Facial fat atrophy" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Facial fat wasting" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Loss of subcutaneous adipose tissue from face, progressive" EXACT []
synonym: "Progressive loss of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Progressive loss of facial subcutaneous adipose tissue" EXACT [ORCID:0000-0001-5889-4462]
synonym: "Progressive loss of subcutaneous adipose tissue from face" EXACT [ORCID:0000-0001-5889-4461]
xref: UMLS:C1837510
is_a: HP:0000292 ! Loss of facial adipose tissue

[Term]
id: HP:0009020
name: Exercise-induced muscle fatigue
def: "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators]
xref: UMLS:C1855580
is_a: HP:0003750 ! Increased muscle fatiguability

[Term]
id: HP:0009023
name: Abdominal wall muscle weakness
alt_id: HP:0001546
alt_id: HP:0004873
def: "Decreased strength of the abdominal musculature." [HPO:probinson]
comment: This may be associated with protuberance of the abdomen.
synonym: "Lax abdominal musculature" EXACT []
xref: UMLS:C4021527
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0010991 ! Abnormality of the abdominal musculature

[Term]
id: HP:0009025
name: Increased connective tissue
def: "The presence of an abnormally increased amount of connective tissue." [HPO:curators]
xref: UMLS:C1866021
is_a: HP:0003549 ! Abnormality of connective tissue

[Term]
id: HP:0009026
name: Hypoplasia of latissimus dorsi muscle
def: "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula." [HPO:curators]
xref: UMLS:C3805860
is_a: HP:0009131 ! Abnormality of the musculature of the thorax

[Term]
id: HP:0009027
name: Foot dorsiflexor weakness
alt_id: HP:0003377
def: "Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles." [HPO:probinson]
comment: Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal.
synonym: "Foot drop" EXACT layperson []
synonym: "Foot extensor weakness" EXACT []
synonym: "Footdrop" EXACT []
xref: SNOMEDCT_US:6077001
xref: UMLS:C0085684
xref: UMLS:C1866141
is_a: HP:0001436 ! Abnormality of the foot musculature
is_a: HP:0003690 ! Limb muscle weakness

[Term]
id: HP:0009028
name: Generalized weakness of limb muscles
def: "Generalized weakness of the muscles of the arms and legs." [HPO:curators]
xref: UMLS:C4024605
is_a: HP:0009127 ! Abnormality of the musculature of the limbs

[Term]
id: HP:0009031
name: Amyotrophy of ankle musculature
def: "Atrophy of the muscles of the ankle." [HPO:probinson]
xref: UMLS:C4024604
is_a: HP:0001436 ! Abnormality of the foot musculature

[Term]
id: HP:0009037
name: Segmental spinal muscular atrophy
xref: MSH:C566670
xref: UMLS:C1866774
is_a: HP:0007269 ! Spinal muscular atrophy

[Term]
id: HP:0009042
name: Marked muscular hypertrophy
def: "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators]
xref: UMLS:C1846013
is_a: HP:0003712 ! Skeletal muscle hypertrophy

[Term]
id: HP:0009044
name: obsolete Hypoplasia of deltoid muscle
is_obsolete: true
replaced_by: HP:0030241

[Term]
id: HP:0009045
name: Exercise-induced rhabdomyolysis
def: "Rhabdomyolysis induced by exercise." [HPO:probinson]
synonym: "Rhabdomyolysis with exercise" EXACT []
xref: UMLS:C4021526
is_a: HP:0003201 ! Rhabdomyolysis

[Term]
id: HP:0009046
name: Difficulty running
def: "Reduced ability to run." [HPO:probinson]
synonym: "Difficulty running" EXACT layperson []
xref: SNOMEDCT_US:282479002
xref: UMLS:C0560346
is_a: HP:0004302 ! Functional motor deficit

[Term]
id: HP:0009049
name: Peroneal muscle atrophy
alt_id: HP:0008939
alt_id: HP:0008982
def: "Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius)." [HPO:probinson]
comment: The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals.
synonym: "Peroneal atrophy" EXACT []
xref: UMLS:C1389118
is_a: HP:0001430 ! Abnormality of the calf musculature
is_a: HP:0003202 ! Skeletal muscle atrophy

[Term]
id: HP:0009050
name: Quadriceps muscle atrophy
def: "Muscular atrophy involving the quadriceps muscle." [HPO:curators]
synonym: "Wasting of quad muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024603
is_a: HP:0008956 ! Proximal lower limb amyotrophy

[Term]
id: HP:0009051
name: Increased muscle glycogen content
def: "An increased amount of glycogen in muscle tissue." [HPO:probinson]
xref: UMLS:C1968729
is_a: HP:0012269 ! Abnormal muscle glycogen content

[Term]
id: HP:0009053
name: Distal lower limb muscle weakness
alt_id: HP:0003485
alt_id: HP:0009035
def: "Reduced strength of the distal musculature of the legs." [HPO:probinson]
comment: This finding can be due to peripheral neuropathy.
synonym: "Distal muscle weakness in lower limbs" EXACT []
synonym: "Muscle weakness, lower limb, distal" EXACT []
xref: UMLS:C1836450
is_a: HP:0002460 ! Distal muscle weakness
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0007340 ! Lower limb muscle weakness

[Term]
id: HP:0009054
name: Scapuloperoneal myopathy
xref: MSH:C536624
xref: UMLS:C2931268
is_a: HP:0001430 ! Abnormality of the calf musculature
is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature

[Term]
id: HP:0009055
name: Generalized limb muscle atrophy
alt_id: HP:0003788
def: "Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations." [HPO:probinson]
synonym: "Generalized muscle atrophy, proximal and distal" EXACT []
synonym: "Generalized muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1838114
is_a: HP:0003700 ! Generalized amyotrophy

[Term]
id: HP:0009056
name: Loss of subcutaneous adipose tissue from upper limbs
synonym: "Loss of fat tissue below the skin from upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024602
is_a: HP:0003635 ! Loss of subcutaneous adipose tissue in limbs

[Term]
id: HP:0009058
name: Increased muscle lipid content
alt_id: HP:0100949
def: "An abnormal accumulation of lipids in skeletal muscle." [HPO:probinson, pmid:20691590]
comment: Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy.
synonym: "Fat accumulation in muscle fibers" EXACT layperson []
synonym: "Fat deposits in muscle fibers" EXACT layperson []
synonym: "Increased muscle lipid content" EXACT layperson []
synonym: "Lipid accumulation in skeletal muscle" EXACT layperson []
synonym: "Muscle lipidosis" EXACT []
synonym: "Skeletal muscle lipid accumulation" EXACT layperson []
xref: UMLS:C1837262
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0009059
name: Congenital generalized lipodystrophy
xref: MSH:D052497
xref: SNOMEDCT_US:284449005
xref: SNOMEDCT_US:86907008
xref: UMLS:C0221032
is_a: HP:0009125 ! Lipodystrophy

[Term]
id: HP:0009060
name: Scapular muscle atrophy
def: "Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle." [HPO:curators]
comment: Need to add new UBERON term for scapula muscle
xref: UMLS:C3805969
is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature

[Term]
id: HP:0009062
name: Infantile axial hypotonia
def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy." [HPO:curators]
synonym: "Hypotonia, axial, in infancy" EXACT []
xref: UMLS:C3806604
is_a: HP:0008936 ! Muscular hypotonia of the trunk
is_a: HP:0008947 ! Infantile muscular hypotonia

[Term]
id: HP:0009063
name: Progressive distal muscle weakness
alt_id: HP:0008933
alt_id: HP:0009022
alt_id: HP:0009057
def: "Progressively reduced strength of the distal musculature." [HPO:curators]
synonym: "Muscle weakness, distal, progressive" EXACT []
synonym: "Muscle weakness, progressive, distal" EXACT []
xref: UMLS:C1836609
is_a: HP:0002460 ! Distal muscle weakness

[Term]
id: HP:0009064
name: Generalized lipodystrophy
alt_id: HP:0008966
def: "Generalized degenerative changes of the fat tissue." [HPO:curators]
synonym: "Lipodystrophy, generalized" EXACT []
xref: MSH:D052497
xref: SNOMEDCT_US:284449005
xref: SNOMEDCT_US:86907008
xref: UMLS:C0221032
is_a: HP:0009125 ! Lipodystrophy

[Term]
id: HP:0009067
name: Progressive spinal muscular atrophy
def: "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators]
synonym: "Progressive spinal muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Progressive spinal muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4082951
is_a: HP:0007269 ! Spinal muscular atrophy

[Term]
id: HP:0009069
name: Lethal infantile mitochondrial myopathy
xref: MSH:C564017
xref: UMLS:C1838876
is_a: HP:0003737 ! Mitochondrial myopathy

[Term]
id: HP:0009071
name: Inflammatory myopathy
def: "Chronic muscle inflammation accompanied by muscle weakness." [PMID:19349710]
xref: MSH:D009220
xref: SNOMEDCT_US:128496001
xref: SNOMEDCT_US:26889001
xref: UMLS:C0027121
is_a: HP:0003198 ! Myopathy

[Term]
id: HP:0009072
name: Decreased Achilles reflex
def: "Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [HPO:probinson]
synonym: "Hyporeflexia at ankle joints" EXACT []
xref: UMLS:C1837323
is_a: HP:0002600 ! Hyporeflexia of lower limbs

[Term]
id: HP:0009073
name: Progressive proximal muscle weakness
alt_id: HP:0008965
def: "Lack of strength of the proximal muscles that becomes progressively more severe." [HPO:probinson]
comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ.
synonym: "Muscle weakness, progressive, proximal" EXACT []
xref: UMLS:C1836156
is_a: HP:0003323 ! Progressive muscle weakness
is_a: HP:0003701 ! Proximal muscle weakness

[Term]
id: HP:0009077
name: Weakness of long finger extensor muscles
xref: UMLS:C4024601
is_a: HP:0030237 ! Hand muscle weakness

[Term]
id: HP:0009084
name: Midline notch of upper alveolar ridge
synonym: "Midline cleft of maxillary alveolar process" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Midline cleft of upper alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Midline notch of maxillary alveolar process" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Midline notch of maxillary alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Midline notch of upper gum ridge" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1851853
is_a: HP:0006477 ! Abnormality of the alveolar ridges

[Term]
id: HP:0009085
name: Alveolar ridge overgrowth
alt_id: HP:0009078
alt_id: HP:0009083
def: "Increased width of the alveolar ridges." [pmid:19125428]
comment: This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding.
subset: hposlim_core
synonym: "Alveolar ridge excess" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Enlarged alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophied alveolar ridge" RELATED []
synonym: "Increased size of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased size of gum ridge" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of alveolar ridge" EXACT []
synonym: "Overgrowth of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick alveolar ridges" EXACT []
synonym: "Thickened alveolar ridges" EXACT []
xref: UMLS:C1856164
xref: UMLS:C1865598
is_a: HP:0006477 ! Abnormality of the alveolar ridges

[Term]
id: HP:0009087
name: Posteriorly placed tongue
synonym: "Posteriorly placed tongue" EXACT layperson []
xref: UMLS:C4024600
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0009088
name: Speech articulation difficulties
def: "Impairment in the physical production of speech sounds." [HPO:probinson]
comment: Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities).
xref: UMLS:C1865313
is_a: HP:0001608 ! Abnormality of the voice

[Term]
id: HP:0009090
name: obsolete Facial diplegic appearance
is_obsolete: true
consider: HP:0001349

[Term]
id: HP:0009092
name: Progressive alveolar ridge hypertropy
synonym: "Increasing overgrowth of gum ridge" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Increasing size of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Progressive hypertrophy of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1854934
xref: UMLS:C4280407
is_a: HP:0006477 ! Abnormality of the alveolar ridges

[Term]
id: HP:0009094
name: Cleft lower alveolar ridge
synonym: "Cleft of lower alveolar process" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Cleft of lower gingiva" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Cleft of lower gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Cleft of mandibular alveolar process" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Cleft of mandibular gingiva" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Notch of lower alveolar process" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Notch of lower alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Notch of lower gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Notch of mandibular alveolar process" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Notch of mandibular alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1849350
xref: UMLS:C4280404
xref: UMLS:C4280405
xref: UMLS:C4280406
is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla

[Term]
id: HP:0009098
name: Chronic oral candidiasis
def: "Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx." []
synonym: "Chronic oral thrush" EXACT layperson [ORCID:0000-0002-0736-9199]
xref: UMLS:C4024599
is_a: HP:0002728 ! Chronic mucocutaneous candidiasis

[Term]
id: HP:0009099
name: Median cleft palate
def: "Cleft palate of the midline of the palate." [HPO:probinson]
synonym: "Central cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Midline cleft palate" EXACT layperson []
xref: UMLS:C1850968
is_a: HP:0000175 ! Cleft palate

[Term]
id: HP:0009100
name: Thick anterior alveolar ridges
synonym: "Thick anterior alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1859377
is_a: HP:0009085 ! Alveolar ridge overgrowth

[Term]
id: HP:0009101
name: Submucous cleft lip
def: "A cleft of the lip with overlying mucous membrane." [HPO:probinson]
comment: Submucous cleft lip may lead to increased nasal resonance.
synonym: "Submucous labial cleft" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1839277
is_a: HP:0000204 ! Cleft upper lip

[Term]
id: HP:0009102
name: Anterior open-bite malocclusion
def: "A type of malocclusion in which there is a gap between the anterior teeth (incisors)." [HPO:ibailleulforestier]
synonym: "Absence of overlap of anterior upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anterior open bite between upper and lower teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Anterior openbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "AOB" EXACT HP:0045077 [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Apertognathia malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Gap between upper and lower front teeth when biting" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024598
is_a: HP:0000689 ! Dental malocclusion

[Term]
id: HP:0009103
name: Aplasia/Hypoplasia involving the pelvis
synonym: "Absent/small pelvis" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pelvis" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024597
is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology
created_by: peter
creation_date: 2008-04-04T08:40:00Z

[Term]
id: HP:0009104
name: Aplasia/Hypoplasia of the pubic bone
alt_id: HP:0008841
def: "Absence or underdevelopment of the pubic bone." [HPO:probinson]
synonym: "Absent/small pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypoplastic/aplastic pubic bones" EXACT layperson []
xref: UMLS:C1849305
is_a: HP:0003172 ! Abnormality of the pubic bone
is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis
created_by: peter
creation_date: 2008-04-04T08:41:00Z

[Term]
id: HP:0009105
name: Abnormal ossification of the pubic bone
def: "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis." [HPO:probinson]
synonym: "Abnormal maturation of the pubic bone" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024596
xref: UMLS:C4280403
is_a: HP:0003172 ! Abnormality of the pubic bone
is_a: HP:0009106 ! Abnormal pelvis bone ossification
created_by: peter
creation_date: 2008-04-04T08:41:00Z

[Term]
id: HP:0009106
name: Abnormal pelvis bone ossification
def: "An abnormality of the formation and mineralization of any bone of the bony pelvis." [HPO:probinson]
synonym: "Abnormal maturation of the pelvis bone" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal ossification involving the bones of the pelvis" EXACT []
xref: UMLS:C4021525
xref: UMLS:C4280402
is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology
is_a: HP:0003336 ! Abnormal enchondral ossification
created_by: peter
creation_date: 2008-04-04T08:42:00Z

[Term]
id: HP:0009107
name: Abnormal ossification involving the femoral head and neck
synonym: "Abnormal maturation of thigh bone head and neck" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024595
is_a: HP:0003336 ! Abnormal enchondral ossification
is_a: HP:0003366 ! Abnormality of the femoral neck or head region
created_by: peter
creation_date: 2008-04-04T08:42:00Z

[Term]
id: HP:0009108
name: Aplasia/Hypoplasia involving the femoral head and neck
synonym: "Absent/small head and neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped head and neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024594
is_a: HP:0003366 ! Abnormality of the femoral neck or head region
is_a: HP:0005613 ! Aplasia/hypoplasia of the femur
is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis
created_by: peter
creation_date: 2008-04-04T08:44:00Z

[Term]
id: HP:0009109
name: Denervation of the diaphragm
def: "Interruption of the innervation of the diaphragm." [HPO:probinson]
xref: UMLS:C1858529
is_a: HP:0000775 ! Abnormality of the diaphragm
created_by: peter
creation_date: 2008-04-05T10:41:00Z

[Term]
id: HP:0009110
name: Diaphragmatic eventration
alt_id: HP:0009114
def: "A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development." [HPO:curators]
synonym: "Eventration of the diaphragm" RELATED []
xref: MSH:D003965
xref: SNOMEDCT_US:34168003
xref: UMLS:C0011981
is_a: HP:0000775 ! Abnormality of the diaphragm
created_by: peter
creation_date: 2008-04-05T10:42:00Z

[Term]
id: HP:0009112
name: Absent left hemidiaphragm
def: "Congenital absence of the left half of the diaphragm." [HPO:probinson]
xref: UMLS:C4024593
is_a: HP:0040048 ! Aplasia of the left hemidiaphragm
created_by: peter
creation_date: 2008-04-05T10:43:00Z

[Term]
id: HP:0009113
name: Diaphragmatic weakness
alt_id: HP:0005953
alt_id: HP:0009111
def: "A decrease in the strength of the diaphragm." [HPO:probinson, pmid:2509822]
comment: Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination.
synonym: "Diaphragmatic paraparesis" EXACT []
synonym: "Diminished diaphragmatic motion" RELATED []
synonym: "Weak diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:95438009
xref: UMLS:C0521532
xref: UMLS:C4020786
is_a: HP:0000775 ! Abnormality of the diaphragm
is_a: HP:0001324 ! Muscle weakness
created_by: peter
creation_date: 2008-04-05T10:43:00Z

[Term]
id: HP:0009115
name: Aplasia/hypoplasia involving the skeleton
def: "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton." [HPO:probinson]
synonym: "Absent/small skeleton" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped skeleton" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024592
is_a: HP:0011842 ! Abnormality of skeletal morphology
created_by: peter
creation_date: 2008-04-05T10:53:00Z

[Term]
id: HP:0009116
name: Aplasia/Hypoplasia involving bones of the skull
xref: UMLS:C4024591
is_a: HP:0000929 ! Abnormality of the skull
is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton
created_by: peter
creation_date: 2008-04-05T10:53:00Z

[Term]
id: HP:0009117
name: Aplasia/Hypoplasia of the maxilla
def: "Absence or underdevelopment of the Maxilla." [HPO:probinson]
synonym: "Underdevelopment of maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024590
is_a: HP:0000326 ! Abnormality of the maxilla
is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull
created_by: peter
creation_date: 2008-04-05T10:57:00Z

[Term]
id: HP:0009118
name: Aplasia/Hypoplasia of the mandible
def: "Absence or underdevelopment of the mandible." [HPO:probinson]
xref: MSH:D063173
xref: UMLS:C3494426
xref: UMLS:C4021371
xref: UMLS:C4024589
xref: UMLS:C4280261
xref: UMLS:C4280401
is_a: HP:0000277 ! Abnormality of the mandible
is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull
creation_date: 2008-04-05T10:57:00Z

[Term]
id: HP:0009119
name: Aplasia/Hypoplasia of the frontal sinuses
def: "Absence or underdevelopment of frontal sinus." [HPO:probinson]
synonym: "Abnormally small frontal sinus" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024588
is_a: HP:0002687 ! Abnormality of frontal sinus
is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses
created_by: peter
creation_date: 2008-04-05T11:00:00Z

[Term]
id: HP:0009120
name: Aplasia/Hypoplasia involving the sinuses
def: "Absence or underdevelopment of a cranial sinus or sinuses." [HPO:curators]
xref: UMLS:C4024587
is_a: HP:0000245 ! Abnormality of the paranasal sinuses
is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull
created_by: peter
creation_date: 2008-04-05T11:01:00Z

[Term]
id: HP:0009121
name: Abnormal axial skeleton morphology
def: "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum." [HPO:probinson]
synonym: "Abnormality of the axial skeleton" RELATED []
xref: UMLS:C4020785
xref: UMLS:C4024586
is_a: HP:0011842 ! Abnormality of skeletal morphology
created_by: peter
creation_date: 2008-04-05T11:16:00Z

[Term]
id: HP:0009122
name: Aplasia/hypoplasia affecting bones of the axial skeleton
def: "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton." [HPO:probinson]
xref: UMLS:C4024585
is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton
is_a: HP:0009121 ! Abnormal axial skeleton morphology
created_by: peter
creation_date: 2008-04-05T11:29:00Z

[Term]
id: HP:0009123
name: Mixed hypo- and hyperpigmentation of the skin
xref: UMLS:C4024584
is_a: HP:0000953 ! Hyperpigmentation of the skin
is_a: HP:0001010 ! Hypopigmentation of the skin
created_by: peter
creation_date: 2008-04-05T11:36:00Z

[Term]
id: HP:0009124
name: Abnormal adipose tissue morphology
def: "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes." [HPO:curators]
synonym: "Abnormality of adipose tissue" EXACT layperson []
synonym: "Abnormality of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of fatty tissue" EXACT layperson []
xref: UMLS:C4021524
is_a: HP:0003549 ! Abnormality of connective tissue
created_by: peter
creation_date: 2008-04-05T11:40:00Z

[Term]
id: HP:0009125
name: Lipodystrophy
def: "Degenerative changes of the fat tissue." [HPO:curators]
synonym: "Inability to make and keep healthy fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MSH:D008060
xref: SNOMEDCT_US:71325002
xref: UMLS:C0023787
is_a: HP:0009124 ! Abnormal adipose tissue morphology
created_by: peter
creation_date: 2008-04-05T11:40:00Z

[Term]
id: HP:0009126
name: Increased adipose tissue
def: "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [HPO:curators]
synonym: "Increased adipose tissue" EXACT layperson []
synonym: "Increased fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024583
is_a: HP:0009025 ! Increased connective tissue
is_a: HP:0009124 ! Abnormal adipose tissue morphology
created_by: peter
creation_date: 2008-04-05T11:43:00Z

[Term]
id: HP:0009127
name: Abnormality of the musculature of the limbs
synonym: "Abnormal limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Muscle issues in the arms and/or legs" EXACT layperson []
xref: UMLS:C4024582
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0040064 ! Abnormality of limbs
created_by: peter
creation_date: 2008-04-07T02:00:00Z

[Term]
id: HP:0009128
name: Aplasia/Hypoplasia involving the musculature of the extremities
synonym: "Absent/small muscles of extremities" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped muscles of extremities" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024581
is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature
is_a: HP:0009127 ! Abnormality of the musculature of the limbs
created_by: peter
creation_date: 2008-04-07T02:01:00Z

[Term]
id: HP:0009129
name: Upper limb amyotrophy
alt_id: HP:0003471
def: "Muscular atrophy involving the muscles of the upper limbs." [HPO:probinson]
synonym: "Amyotrophy involving the upper limbs" EXACT []
xref: UMLS:C4021523
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0003202 ! Skeletal muscle atrophy
created_by: peter
creation_date: 2008-04-07T05:01:00Z

[Term]
id: HP:0009130
name: Hand muscle atrophy
alt_id: HP:0006967
alt_id: HP:0008934
alt_id: HP:0008951
alt_id: HP:0009038
def: "Muscular atrophy involving the muscles of the hand." [HPO:curators]
comment: This term can be used to described bilateral amyotrophy of the musculature of the hand.
synonym: "Amyotrophy involving the musculature of the hand" EXACT []
synonym: "Amyotrophy of hand muscles" EXACT []
synonym: "Hand muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hand muscle wasting" EXACT []
synonym: "Hand muscle wasting, bilateral" EXACT []
xref: UMLS:C0239830
is_a: HP:0001421 ! Abnormality of the musculature of the hand
is_a: HP:0007149 ! Distal upper limb amyotrophy
created_by: peter
creation_date: 2008-04-07T05:01:00Z

[Term]
id: HP:0009131
name: Abnormality of the musculature of the thorax
def: "A disease or lesion affecting the muscles of the thorax." [HPO:curators]
xref: UMLS:C4024580
is_a: HP:0003011 ! Abnormality of the musculature
created_by: peter
creation_date: 2008-04-07T05:06:00Z

[Term]
id: HP:0009132
name: Abnormal tarsal bone mineral density
def: "This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone." [HPO:probinson]
synonym: "Abnormality of bone mineral density involving tarsal bones" EXACT []
xref: UMLS:C4021522
is_a: HP:0001850 ! Abnormality of the tarsal bones
is_a: HP:0004348 ! Abnormality of bone mineral density
created_by: peter
creation_date: 2008-04-17T02:39:00Z

[Term]
id: HP:0009134
name: Osteolysis involving bones of the feet
xref: UMLS:C4024579
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs
created_by: peter
creation_date: 2008-04-17T02:43:00Z

[Term]
id: HP:0009136
name: Duplication involving bones of the feet
synonym: "Duplication involving bones of the feet" EXACT layperson []
xref: UMLS:C4024578
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0040069 ! Abnormal lower limb bone morphology
created_by: peter
creation_date: 2008-04-17T02:45:00Z

[Term]
id: HP:0009138
name: Synostosis involving bones of the lower limbs
def: "An abnormal union between bones or parts of bones lower limbs." [HPO:sdoelken]
synonym: "Fusion involving the bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024577
is_a: HP:0040069 ! Abnormal lower limb bone morphology
is_a: HP:0100240 ! Synostosis of joints
is_a: HP:0100491 ! Abnormality of lower limb joint
created_by: peter
creation_date: 2008-04-17T02:51:00Z

[Term]
id: HP:0009139
name: Osteolysis involving bones of the lower limbs
xref: UMLS:C4024576
is_a: HP:0002797 ! Osteolysis
is_a: HP:0040069 ! Abnormal lower limb bone morphology
created_by: peter
creation_date: 2008-04-17T02:52:00Z

[Term]
id: HP:0009140
name: Synostosis involving bones of the feet
synonym: "Fusion involving the bones of the feet" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024575
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0009138 ! Synostosis involving bones of the lower limbs
created_by: peter
creation_date: 2008-04-17T02:54:00Z

[Term]
id: HP:0009141
name: Depletion of mitochondrial DNA in muscle tissue
alt_id: HP:0009070
synonym: "Depletion of mitochondrial dna in skeletal muscle tissue" EXACT []
xref: UMLS:C4021521
is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction
created_by: peter
creation_date: 2008-05-02T12:00:00Z

[Term]
id: HP:0009142
name: Duplication of bones involving the upper extremities
synonym: "Duplication of bones involving the upper extremities" EXACT layperson []
xref: UMLS:C4024574
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: peter
creation_date: 2008-05-02T01:23:00Z

[Term]
id: HP:0009144
name: Supernumerary bones of the axial skeleton
xref: UMLS:C4024573
is_a: HP:0009121 ! Abnormal axial skeleton morphology
created_by: peter
creation_date: 2008-05-02T01:29:00Z

[Term]
id: HP:0009145
name: Abnormal cerebral artery morphology
def: "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery." [HPO:probinson]
synonym: "Abnormality of cerebral artery" EXACT layperson []
synonym: "Abnormality of the cerebral arteries" EXACT layperson []
xref: UMLS:C4021520
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:0100659 ! Abnormality of the cerebral vasculature
created_by: peter
creation_date: 2008-05-02T01:39:00Z

[Term]
id: HP:0009147
name: Enlarged epiphysis of the distal phalanx of the 5th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024572
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T01:39:32Z

[Term]
id: HP:0009148
name: Small epiphysis of the distal phalanx of the 5th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024571
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009390 ! Small epiphyses of the 5th finger
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T01:40:08Z

[Term]
id: HP:0009149
name: Triangular epiphysis of the distal phalanx of the 5th finger
alt_id: HP:0009137
def: "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the distal phalanx of the 5th finger" EXACT []
synonym: "Triangular end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021519
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009392 ! Triangular epiphyses of the 5th finger
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T01:40:48Z

[Term]
id: HP:0009150
name: Abnormality of the proximal phalanx of the 5th finger
def: "Abnormality of the proximal phalanx of the little (5th) finger." [HPO:curators]
synonym: "Abnormality of the innermost bone little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the innermost bone pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the innermost bone pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024570
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
created_by: peter
creation_date: 2008-12-22T02:00:20Z

[Term]
id: HP:0009152
name: Abnormality of the epiphyses of the 5th finger
def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger." [HPO:sdoelken]
synonym: "Abnormality of end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024569
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
created_by: peter
creation_date: 2008-12-22T02:07:27Z

[Term]
id: HP:0009153
name: Abnormality of the epiphysis of the proximal phalanx of the 5th finger
def: "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curator]
synonym: "Abnormality of end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024568
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T05:47:42Z

[Term]
id: HP:0009154
name: Triangular epiphysis of the proximal phalanx of the 5th finger
alt_id: HP:0009156
def: "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the proximal phalanx of the 5th finger" EXACT layperson []
synonym: "Triangular end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021518
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009392 ! Triangular epiphyses of the 5th finger
is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009155
name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger
def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Angel-shaped epiphysis of the proximal phalanx of the 5th finger" RELATED []
synonym: "Cone-shaped end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped epiphysis of the proximal phalanx of the little finger" RELATED []
xref: UMLS:C4020783
xref: UMLS:C4020784
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009157
name: Ivory epiphysis of the proximal phalanx of the 5th finger
def: "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the innermost bone of little finger" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Ivory epiphysis of the proximal phalanx of the little finger" RELATED layperson []
xref: UMLS:C4020782
xref: UMLS:C4024567
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009388 ! Ivory epiphyses of the 5th finger
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009158
name: Enlarged epiphysis of the proximal phalanx of the 5th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024566
is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger
created_by: peter
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009159
name: Small epiphysis of the proximal phalanx of the 5th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024565
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009390 ! Small epiphyses of the 5th finger
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009160
name: Absent epiphysis of the proximal phalanx of the 5th finger
def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger." [HPO:curators]
synonym: "Absent end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024564
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009382 ! Absent epiphyses of the 5th finger
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
created_by: peter
creation_date: 2008-12-22T05:50:39Z

[Term]
id: HP:0009161
name: Aplasia/Hypoplasia of the middle phalanx of the 5th finger
alt_id: HP:0006242
def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators]
synonym: "Absent/hypoplastic middle phalanx of 5th finger" EXACT []
synonym: "Absent/small middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834034
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger
created_by: peter
creation_date: 2008-12-22T05:55:56Z

[Term]
id: HP:0009162
name: Absent middle phalanx of 5th finger
alt_id: HP:0005774
def: "Absence of the middle phalanx of the little (5th) finger." [HPO:curators]
synonym: "Absent middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the middle phalanx of the 5th finger" EXACT []
xref: UMLS:C3277750
is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger
is_a: HP:0009238 ! Aplasia of the 5th finger
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
created_by: peter
creation_date: 2008-12-22T06:08:40Z

[Term]
id: HP:0009163
name: obsolete Abnormal form of the 5th finger
is_obsolete: true
consider: HP:0004207

[Term]
id: HP:0009164
name: Abnormal calcification of the carpal bones
alt_id: HP:0006154
synonym: "Abnormal calcification of the wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Carpal calcifications" EXACT []
xref: UMLS:C1968592
is_a: HP:0006257 ! Abnormality of carpal bone ossification
is_a: HP:0010766 ! Ectopic calcification
created_by: peter
creation_date: 2008-12-22T06:53:39Z

[Term]
id: HP:0009165
name: Stippling of the epiphysis of the distal phalanx of the 5th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024563
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
created_by: peter
creation_date: 2008-12-29T02:07:42Z

[Term]
id: HP:0009166
name: Fragmentation of the epiphysis of the distal phalanx of the 5th finger
def: "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators]
synonym: "Fragmentation of end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024562
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
created_by: peter
creation_date: 2008-12-29T02:14:33Z

[Term]
id: HP:0009167
name: Irregular epiphysis of the distal phalanx of the 5th finger
def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators]
synonym: "Irregular end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024561
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009387 ! Irregular epiphyses of the 5th finger
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
created_by: peter
creation_date: 2008-12-29T02:18:06Z

[Term]
id: HP:0009168
name: Bullet-shaped middle phalanx of the 5th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected." [HPO:curators]
synonym: "Bullet-shaped middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024560
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
created_by: peter
creation_date: 2008-12-29T02:44:53Z

[Term]
id: HP:0009169
name: Broad middle phalanx of the 5th finger
def: "Increased width of the middle phalanx of the 5th finger." [HPO:curators]
synonym: "Broad middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide middle phalanx of the 5th finger" EXACT []
xref: UMLS:C4021517
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009374 ! Broad phalanges of the 5th finger
is_a: HP:0009844 ! Broad middle phalanx of finger
created_by: peter
creation_date: 2008-12-29T02:49:04Z

[Term]
id: HP:0009170
name: Osteolytic defects of the middle phalanx of the 5th finger
def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger." [HPO:curators]
xref: UMLS:C4024559
is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
created_by: peter
creation_date: 2008-12-29T02:51:32Z

[Term]
id: HP:0009171
name: Triangular epiphyses of the metacarpals
def: "A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals." [HPO:curators]
synonym: "Triangular end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024558
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
is_a: HP:0010587 ! Triangular epiphyses
created_by: doelkens
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009172
name: Abnormal 4th finger phalanx morphology
alt_id: HP:0004191
def: "Abnormality of the phalanges of the 4th (ring) finger." [HPO:curators]
synonym: "Abnormal bones of 4th finger" EXACT layperson []
synonym: "Abnormality of the phalanges of the ring finger" EXACT []
xref: UMLS:C4021516
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-01-05T04:18:24Z

[Term]
id: HP:0009173
name: Curved middle phalanx of the 5th finger
def: "Curved appearance of the middle phalanx of the 5th finger." [HPO:curators]
synonym: "Curved middle bone of little finger" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Curved middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Curved middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024557
is_a: HP:0004214 ! Curved phalanges of the 5th finger
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009846 ! Curved middle phalanges of the hand
created_by: peter
creation_date: 2008-12-29T03:05:04Z

[Term]
id: HP:0009174
name: Abnormality of the epiphyses of the 4th finger
def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger." [HPO:curators]
synonym: "Abnormality of the end part of the ring finger" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024556
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T04:23:43Z

[Term]
id: HP:0009175
name: Patchy sclerosis of the middle phalanx of the 5th finger
def: "Patchy increase in bone density of the middle phalanx of the 5th finger." [HPO:curators]
synonym: "Uneven increase in bone density in the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024555
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100907 ! Sclerosis of the middle phalanx of the 5th finger
created_by: peter
creation_date: 2008-12-29T03:10:34Z

[Term]
id: HP:0009177
name: Proximal/middle symphalangism of 5th finger
alt_id: HP:0005835
alt_id: HP:0006025
alt_id: HP:0009235
def: "Fusion of the proximal and middle phalanges of the 5th finger." [HPO:curators]
synonym: "Fifth finger symphalangism" EXACT []
synonym: "Fused innermost and middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost and middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost and middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Proximal 5th finger symphalangism" EXACT []
synonym: "Proximal fifth finger symphalangism" EXACT []
synonym: "Symphalangism of the proximal and middle phalanges of the 5th finger" EXACT []
xref: UMLS:C1836212
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger
is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger
created_by: peter
creation_date: 2008-12-29T03:17:08Z

[Term]
id: HP:0009178
name: Symphalangism of middle phalanx of 5th finger
def: "Fusion of the middle phalanx of the 5th finger with another bone." [HPO:curator]
synonym: "Fused middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024554
is_a: HP:0004218 ! Symphalangism of the 5th finger
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
created_by: peter
creation_date: 2008-12-29T03:17:43Z

[Term]
id: HP:0009179
name: Deviation of the 5th finger
alt_id: HP:0006036
def: "Displacement of the 5th finger from its normal position." [HPO:sdoelken]
synonym: "Displaced little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Displaced pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Displaced pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Laterally displaced fifth finger" EXACT []
xref: UMLS:C4021515
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0004207 ! Abnormal 5th finger morphology
created_by: peter
creation_date: 2008-12-29T03:29:20Z

[Term]
id: HP:0009180
name: Ulnar deviation of the 5th finger
def: "Displacement of the 5th finger towards the ulnar side." [HPO:sdoelken]
xref: UMLS:C4024553
is_a: HP:0009179 ! Deviation of the 5th finger
is_a: HP:0009465 ! Ulnar deviation of finger
created_by: peter
creation_date: 2008-12-29T03:30:05Z

[Term]
id: HP:0009182
name: Triangular shaped middle phalanx of the 5th finger
def: "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024552
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
created_by: peter
creation_date: 2008-12-29T04:05:33Z

[Term]
id: HP:0009183
name: Joint contracture of the 5th finger
alt_id: HP:0001184
def: "Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:sdoelken]
synonym: "Fifth finger camptodactyly" EXACT []
xref: UMLS:C1865702
is_a: HP:0004207 ! Abnormal 5th finger morphology
is_a: HP:0012785 ! Flexion contracture of finger
created_by: peter
creation_date: 2008-12-29T04:11:30Z

[Term]
id: HP:0009184
name: Contracture of the distal interphalangeal joint of the 5th finger
def: "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:probinson]
xref: UMLS:C4024551
is_a: HP:0009183 ! Joint contracture of the 5th finger
is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers
created_by: peter
creation_date: 2008-12-29T04:16:15Z

[Term]
id: HP:0009185
name: Contracture of the proximal interphalangeal joint of the 5th finger
alt_id: HP:0005047
alt_id: HP:0006062
def: "Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson]
synonym: "5th finger camptodactyly" EXACT []
xref: UMLS:C3554612
is_a: HP:0009183 ! Joint contracture of the 5th finger
is_a: HP:0100490 ! Camptodactyly of finger
created_by: peter
creation_date: 2008-12-29T04:16:58Z

[Term]
id: HP:0009186
name: Contracture of the metacarpophalangeal joint of the 5th finger
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curator]
xref: UMLS:C4024550
is_a: HP:0009183 ! Joint contracture of the 5th finger
created_by: peter
creation_date: 2008-12-29T04:18:00Z

[Term]
id: HP:0009187
name: Bracket epiphysis of the distal phalanx of the 5th finger
def: "An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024549
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009383 ! Bracket epiphyses of the 5th finger
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2008-12-30T12:07:32Z

[Term]
id: HP:0009188
name: Pseudoepiphysis of the distal phalanx of the 5th finger
def: "A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024548
is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger
is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2008-12-30T12:28:19Z

[Term]
id: HP:0009189
name: Fragmentation of the metacarpal epiphyses
def: "Fragmented appearance of the epiphyses of the metacarpals." [HPO:curators]
synonym: "Fragmentation of end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024547
is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
created_by: doelkens
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009190
name: Irregular epiphyses of the metacarpals
def: "Irregular radiographic opacity of the epiphyses of the metacarpals." [HPO:curators]
synonym: "Irregular end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024546
is_a: HP:0003842 ! Irregular epiphyses of the upper limbs
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
created_by: doelkens
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009191
name: Ivory epiphyses of the metacarpals
def: "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the long bone of hands" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024545
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
is_a: HP:0010583 ! Ivory epiphyses
is_a: HP:0011001 ! Increased bone mineral density
created_by: doelkens
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009192
name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [HPO:curators]
synonym: "Absent/small innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024544
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger
created_by: doelkens
creation_date: 2009-01-05T05:57:28Z

[Term]
id: HP:0009193
name: Pseudoepiphyses of the metacarpals
alt_id: HP:0006091
alt_id: HP:0006164
def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone." [HPO:doelkens]
synonym: "Accessory proximal metacarpal ossification centers" EXACT []
synonym: "Metacarpal pseudoepiphyses" EXACT []
xref: UMLS:C1860253
is_a: HP:0004288 ! Pseudoepiphyses of hand bones
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
created_by: doelkens
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009194
name: Small epiphyses of the metacarpals
def: "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024543
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
is_a: HP:0010585 ! Small epiphyses
created_by: doelkens
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009195
name: Epiphyseal stippling of the metacarpals
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals." [HPO:probinson]
synonym: "Speckled calcifications in end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stippling of the epiphyses of the metacarpals" EXACT []
xref: UMLS:C4021514
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
is_a: HP:0010655 ! Epiphyseal stippling
is_a: HP:0010660 ! Abnormal hand bone ossification
created_by: doelkens
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009196
name: Absent metacarpal epiphyses
alt_id: HP:0006013
def: "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals." [HPO:curators]
synonym: "Absent end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent metacarpal ossification center" EXACT []
xref: UMLS:C4021513
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
is_a: HP:0010577 ! Absent epiphyses
created_by: doelkens
creation_date: 2008-12-30T02:03:34Z

[Term]
id: HP:0009197
name: Bracket epiphysis of the proximal phalanx of the 5th finger
def: "An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024542
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009383 ! Bracket epiphyses of the 5th finger
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:05:01Z

[Term]
id: HP:0009198
name: Abnormality of the epiphysis of the distal phalanx of the 5th finger
alt_id: HP:0004228
def: "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators]
synonym: "Abnormality of end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the epiphysis of the terminal phalanx of the little finger" EXACT []
xref: UMLS:C4021512
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-05T04:41:32Z

[Term]
id: HP:0009199
name: Irregular epiphysis of the proximal phalanx of the 5th finger
def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators]
synonym: "Irregular end part of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024541
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009387 ! Irregular epiphyses of the 5th finger
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:09:06Z

[Term]
id: HP:0009200
name: Pseudoepiphysis of the proximal phalanx of the 5th finger
def: "A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024540
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:10:13Z

[Term]
id: HP:0009201
name: Stippling of the epiphysis of the proximal phalanx of the 5th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the innnermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the innnermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the innnermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024539
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:11:42Z

[Term]
id: HP:0009202
name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger
def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators]
synonym: "Fragmentation of end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024538
is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger
is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:13:41Z

[Term]
id: HP:0009203
name: Absent epiphysis of the middle phalanx of the 5th finger
def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger." [HPO:curators]
synonym: "Absent end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024537
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009382 ! Absent epiphyses of the 5th finger
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009204
name: Bracket epiphysis of the middle phalanx of the 5th finger
def: "An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024536
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009383 ! Bracket epiphyses of the 5th finger
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009205
name: Cone-shaped epiphysis of the middle phalanx of the 5th finger
def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024535
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009206
name: Enlarged epiphysis of the middle phalanx of the 5th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024534
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009207
name: Fragmentation of the epiphysis of the middle phalanx of the 5th finger
def: "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators]
synonym: "Fragmentation of end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024533
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009208
name: Irregular epiphysis of the middle phalanx of the 5th finger
def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators]
synonym: "Irregular end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024532
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009387 ! Irregular epiphyses of the 5th finger
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009209
name: Ivory epiphysis of the middle phalanx of the 5th finger
def: "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024531
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009388 ! Ivory epiphyses of the 5th finger
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009210
name: Pseudoepiphysis of the middle phalanx of the 5th finger
def: "A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024530
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009211
name: Small epiphysis of the middle phalanx of the 5th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024529
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009390 ! Small epiphyses of the 5th finger
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009212
name: Stippling of the epiphysis of the middle phalanx of the 5th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024528
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009213
name: Triangular epiphysis of the middle phalanx of the 5th finger
def: "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the middle phalanx of the 5th finger" EXACT []
synonym: "Triangular end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021511
is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger
is_a: HP:0009392 ! Triangular epiphyses of the 5th finger
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:22:18Z

[Term]
id: HP:0009214
name: Absent epiphysis of the middle phalanx of the 4th finger
def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger." [HPO:curators]
synonym: "Absent end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024527
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009393 ! Absent epiphyses of the 4th finger
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009215
name: Bracket epiphysis of the middle phalanx of the 4th finger
def: "An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024526
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009394 ! Bracket epiphyses of the 4th finger
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009216
name: Cone-shaped epiphysis of the middle phalanx of the 4th finger
def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024525
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009217
name: Enlarged epiphysis of the middle phalanx of the 4th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024524
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009218
name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger
def: "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators]
synonym: "Fragmentation of end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024523
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009219
name: Irregular epiphysis of the middle phalanx of the 4th finger
def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators]
synonym: "Irregular end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024522
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009398 ! Irregular epiphyses of the 4th finger
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009220
name: Ivory epiphysis of the middle phalanx of the 4th finger
def: "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024521
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009399 ! Ivory epiphyses of the 4th finger
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009221
name: Pseudoepiphysis of the middle phalanx of the 4th finger
def: "A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024520
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009222
name: Small epiphysis of the middle phalanx of the 4th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024519
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009401 ! Small epiphyses of the 4th finger
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009223
name: Stippling of the epiphysis of the middle phalanx of the 4th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024518
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009224
name: Triangular epiphysis of the middle phalanx of the 4th finger
def: "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the middle phalanx of the 4th finger" EXACT []
synonym: "Triangular end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021510
is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger
is_a: HP:0009403 ! Triangular epiphyses of the 4th finger
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T05:23:59Z

[Term]
id: HP:0009225
name: Aplasia of the proximal phalanx of the 5th finger
def: "Absence of the proximal phalanx of the little (5th) finger." [HPO:curators]
synonym: "Absent innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024517
is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
is_a: HP:0009238 ! Aplasia of the 5th finger
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T06:00:33Z

[Term]
id: HP:0009226
name: Short proximal phalanx of the 5th finger
def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the fifth finger." [HPO:sdoelken]
synonym: "Hypoplastic/small proximal phalanx of the 5th finger" EXACT []
synonym: "Short innermost little finger bone" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Short innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short proximal phalanx of the fifth finger" EXACT layperson []
xref: UMLS:C4021509
is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
is_a: HP:0009237 ! Short 5th finger
is_a: HP:0010241 ! Short proximal phalanx of finger
created_by: doelkens
creation_date: 2009-01-05T06:01:34Z

[Term]
id: HP:0009227
name: Broad proximal phalanx of the 5th finger
def: "Increased width of the proximal phalanx of the 5th finger." [HPO:curators]
synonym: "Broad innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide proximal phalanx of the 5th finger" EXACT []
xref: UMLS:C4021508
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009374 ! Broad phalanges of the 5th finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009228
name: Bullet-shaped proximal phalanx of the 5th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected." [HPO:curators]
synonym: "Bullet-shaped innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024516
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger
is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009229
name: Curved proximal phalanx of the 5th finger
def: "Curved appearance of the proximal phalanx of the 5th finger." [HPO:curators]
synonym: "Curved innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024515
is_a: HP:0004214 ! Curved phalanges of the 5th finger
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009854 ! Curved proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009230
name: Osteolytic defects of the proximal phalanx of the 5th finger
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger." [HPO:curators]
xref: UMLS:C4024514
is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009231
name: Patchy sclerosis of the proximal phalanx of the 5th finger
def: "Patchy increase in bone density of the proximal phalanx of the 5th finger." [HPO:curators]
synonym: "Uneven increase in bone density in the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024513
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx
is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger
is_a: HP:0100911 ! Sclerosis of the proximal phalanx of the 5th finger
created_by: doelkens
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009232
name: Symphalangism affecting the proximal phalanx of the 5th finger
def: "Fusion of the proximal phalanx of the 5th finger with another bone." [HPO:curators]
synonym: "Fused innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024512
is_a: HP:0004218 ! Symphalangism of the 5th finger
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009233
name: Triangular shaped proximal phalanx of the 5th finger
def: "Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024511
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T06:11:33Z

[Term]
id: HP:0009234
name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal
def: "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal." [HPO:curators]
synonym: "Fused innermost bone of little finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost bone of pinkie finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost bone of pinky finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024510
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger
is_a: HP:0009708 ! Synostosis involving the 5th metacarpal
created_by: doelkens
creation_date: 2009-01-05T06:19:01Z

[Term]
id: HP:0009236
name: Rhomboid or triangular shaped 5th finger proximal phalanx
def: "Rhomboid or triangular shaped 5th (little) finger proximal phalanx." [HPO:curators]
synonym: "Rhomboid or triangular shaped innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Rhomboid or triangular shaped innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Rhomboid or triangular shaped innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024509
is_a: HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger
created_by: doelkens
creation_date: 2009-01-05T06:20:38Z

[Term]
id: HP:0009237
name: Short 5th finger
alt_id: HP:0001205
alt_id: HP:0004208
alt_id: HP:0004210
alt_id: HP:0004211
alt_id: HP:0004215
alt_id: HP:0004217
alt_id: HP:0005804
alt_id: HP:0005888
def: "Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger." [HPO:sdoelken]
synonym: "Fifth finger brachydactyly" EXACT []
synonym: "Hypoplastic phalanges of the little finger" EXACT []
synonym: "Hypoplastic/small 5th finger" EXACT []
synonym: "Hypoplastic/small little finger" EXACT []
synonym: "Short 5th finger" EXACT layperson []
synonym: "Short fifth finger" EXACT layperson []
synonym: "Short fifth fingers" EXACT layperson []
synonym: "Short little finger" EXACT layperson []
synonym: "Short phalanges of the little finger" EXACT []
synonym: "Short pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1842878
is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger
is_a: HP:0009381 ! Short finger
created_by: doelkens
creation_date: 2009-01-05T06:54:07Z

[Term]
id: HP:0009238
name: Aplasia of the 5th finger
def: "Absent 5th (little) finger." [HPO:curators]
synonym: "Absent little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024508
is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger
is_a: HP:0009380 ! Aplasia of the fingers
created_by: doelkens
creation_date: 2009-01-05T07:02:48Z

[Term]
id: HP:0009239
name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
synonym: "Absent/small outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024507
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger
created_by: doelkens
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009240
name: Broad distal phalanx of the 5th finger
def: "Increased width of the distal phalanx of the 5th finger." [HPO:curators]
synonym: "Broad outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024506
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009374 ! Broad phalanges of the 5th finger
is_a: HP:0009836 ! Broad distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009241
name: Bullet-shaped distal phalanx of the 5th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected." [HPO:curators]
synonym: "Bullet-shaped outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024505
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009242
name: Osteolytic defects of the distal phalanx of the 5th finger
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger." [HPO:curators]
xref: UMLS:C4024504
is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009243
name: Patchy sclerosis of the distal phalanx of the 5th finger
def: "Patchy increase in bone density of the distal phalanx of the 5th finger." [HPO:curators]
synonym: "Uneven increase in bone density in the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024503
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100903 ! Sclerosis of the distal phalanx of the 5th finger
created_by: doelkens
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009244
name: Distal/middle symphalangism of 5th finger
alt_id: HP:0006250
alt_id: HP:0009176
def: "Fusion of the terminal/distal and middle phalanges of the 5th finger." [HPO:curators]
synonym: "Fifth finger distal interphalangeal joint symphalangism" EXACT []
synonym: "Fused end and middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused end and middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused end and middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fusion of the terminal and middle phalanges of the 5th finger" RELATED layperson []
synonym: "Symphalangism of the distal and middle phalanges of the 5th finger" EXACT []
synonym: "Symphalangism of the terminal and middle phalanges of the 5th finger" EXACT []
xref: UMLS:C1868573
xref: UMLS:C4020781
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger
created_by: doelkens
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009245
name: Triangular shaped distal phalanx of the 5th finger
def: "Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024502
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T07:25:50Z

[Term]
id: HP:0009246
name: Aplasia of the distal phalanx of the 5th finger
def: "Absence of the distal phalanx of the little (5th) finger." [HPO:curators]
synonym: "Absent outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024501
is_a: HP:0009238 ! Aplasia of the 5th finger
is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-05T07:27:52Z

[Term]
id: HP:0009247
name: Abnormality of the epiphysis of the middle phalanx of the 4th finger
synonym: "Abnormality of the end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024500
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T11:29:14Z

[Term]
id: HP:0009248
name: Abnormality of the epiphysis of the proximal phalanx of the 4th finger
synonym: "Abnormality of the end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024499
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:04:09Z

[Term]
id: HP:0009249
name: Abnormality of the epiphysis of the distal phalanx of the 4th finger
synonym: "Abnormality of the end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024498
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-07T12:04:09Z

[Term]
id: HP:0009250
name: Absent epiphysis of the distal phalanx of the 4th finger
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger." [HPO:curators]
synonym: "Absent end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024497
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009393 ! Absent epiphyses of the 4th finger
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009251
name: Bracket epiphysis of the distal phalanx of the 4th finger
def: "An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024496
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009394 ! Bracket epiphyses of the 4th finger
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009252
name: Cone-shaped epiphysis of the distal phalanx of the 4th finger
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024495
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009253
name: Enlarged epiphysis of the distal phalanx of the 4th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024494
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009254
name: Fragmentation of the epiphysis of the distal phalanx of the 4th finger
def: "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators]
synonym: "Fragmentation of end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024493
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009255
name: Irregular epiphysis of the distal phalanx of the 4th finger
def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators]
synonym: "Irregular end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024492
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009398 ! Irregular epiphyses of the 4th finger
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009256
name: Ivory epiphysis of the distal phalanx of the 4th finger
def: "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024491
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009399 ! Ivory epiphyses of the 4th finger
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009257
name: Pseudoepiphysis of the distal phalanx of the 4th finger
def: "A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024490
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009258
name: Small epiphysis of the distal phalanx of the 4th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024489
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009401 ! Small epiphyses of the 4th finger
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009259
name: Stippling of the epiphysis of the distal phalanx of the 4th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger." [HPO:curators]
synonym: "Speckled calcifications in the end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024488
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009260
name: Triangular epiphysis of the distal phalanx of the 4th finger
def: "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the distal phalanx of the 4th finger" EXACT []
synonym: "Triangular end part of the outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021507
is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger
is_a: HP:0009403 ! Triangular epiphyses of the 4th finger
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:07:34Z

[Term]
id: HP:0009261
name: Absent epiphysis of the proximal phalanx of the 4th finger
def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger." [HPO:curators]
synonym: "Absent end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024487
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009393 ! Absent epiphyses of the 4th finger
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009262
name: Bracket epiphysis of the proximal phalanx of the 4th finger
alt_id: HP:0004200
def: "An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket proximal epiphysis of the ring finger" EXACT []
synonym: "Bracket shaped end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021506
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009394 ! Bracket epiphyses of the 4th finger
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009263
name: Cone-shaped epiphysis of the proximal phalanx of the 4th finger
def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024486
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009264
name: Enlarged epiphysis of the proximal phalanx of the 4th finger
def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024485
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger
is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009265
name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger
def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators]
synonym: "Fragmentation of end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024484
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009266
name: Irregular epiphysis of the proximal phalanx of the 4th finger
def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators]
synonym: "Irregular end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024483
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009398 ! Irregular epiphyses of the 4th finger
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009267
name: Ivory epiphysis of the proximal phalanx of the 4th finger
def: "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024482
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009399 ! Ivory epiphyses of the 4th finger
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009268
name: Pseudoepiphysis of the proximal phalanx of the 4th finger
def: "A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024481
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009269
name: Small epiphysis of the proximal phalanx of the 4th finger
def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024480
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009401 ! Small epiphyses of the 4th finger
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009270
name: Stippling of the epiphysis of the proximal phalanx of the 4th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024479
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009271
name: Triangular epiphysis of the proximal phalanx of the 4th finger
def: "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the proximal phalanx of the 4th finger" EXACT []
synonym: "Triangular end part of the innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021505
is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger
is_a: HP:0009403 ! Triangular epiphyses of the 4th finger
is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-07T12:12:59Z

[Term]
id: HP:0009272
name: Aplasia/Hypoplasia of the 4th finger
def: "A small/hypoplastic or absent/aplastic 4th (ring) finger." [HPO:curators]
synonym: "Absent/small ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024478
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
created_by: doelkens
creation_date: 2009-01-07T04:01:26Z

[Term]
id: HP:0009273
name: Deviation of the 4th finger
def: "Displacement of the 4th finger from its normal position." [HPO:curators]
synonym: "Deviation of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024477
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0004188 ! Abnormal 4th finger morphology
created_by: doelkens
creation_date: 2009-01-07T04:03:23Z

[Term]
id: HP:0009274
name: Joint contracture of the 4th finger
alt_id: HP:0004189
def: "Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson]
synonym: "Joint contractures of the fourth finger" EXACT []
xref: UMLS:C4021504
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0012785 ! Flexion contracture of finger
created_by: doelkens
creation_date: 2009-01-07T04:04:54Z

[Term]
id: HP:0009275
name: Contracture of the distal interphalangeal joint of the 4th finger
def: "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:probinson]
xref: UMLS:C4024476
is_a: HP:0009274 ! Joint contracture of the 4th finger
is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers
created_by: doelkens
creation_date: 2009-01-07T04:10:39Z

[Term]
id: HP:0009276
name: Contracture of the proximal interphalangeal joint of the 4th finger
alt_id: HP:0005845
def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson]
synonym: "4th finger camptodactyly" EXACT []
synonym: "Camptodactyly of the 4th finger" EXACT []
synonym: "Camptodactyly of the ring finger" EXACT []
xref: UMLS:C4021503
is_a: HP:0009274 ! Joint contracture of the 4th finger
is_a: HP:0100490 ! Camptodactyly of finger
created_by: doelkens
creation_date: 2009-01-07T04:10:39Z

[Term]
id: HP:0009277
name: Contracture of the metacarpophalangeal joint of the 4th finger
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators]
xref: UMLS:C4024475
is_a: HP:0009274 ! Joint contracture of the 4th finger
created_by: doelkens
creation_date: 2009-01-07T04:10:39Z

[Term]
id: HP:0009278
name: Ulnar deviation of the 4th finger
def: "Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger)." [HPO:sdoelken]
synonym: "Ulnar deviation of the ring finger" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024474
is_a: HP:0009273 ! Deviation of the 4th finger
is_a: HP:0009465 ! Ulnar deviation of finger
created_by: doelkens
creation_date: 2009-01-07T04:24:53Z

[Term]
id: HP:0009279
name: Radial deviation of the 4th finger
def: "Displacement of the 4th finger towards the radial side (i.e., towards the thumb)." [HPO:sdoelken]
synonym: "Radial deviation of the ring finger" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024473
is_a: HP:0009273 ! Deviation of the 4th finger
is_a: HP:0009466 ! Radial deviation of finger
created_by: doelkens
creation_date: 2009-01-07T04:24:53Z

[Term]
id: HP:0009280
name: Short 4th finger
alt_id: HP:0004190
alt_id: HP:0006211
def: "Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger." [HPO:sdoelken]
synonym: "Hypoplastic/small 4th finger" EXACT []
synonym: "Short ring finger" EXACT layperson []
xref: UMLS:C4021502
is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger
is_a: HP:0009381 ! Short finger
created_by: doelkens
creation_date: 2009-01-07T04:28:08Z

[Term]
id: HP:0009281
name: Aplasia of the 4th finger
def: "Absent 4th finger." [HPO:curators]
synonym: "Absent ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024472
is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger
is_a: HP:0009380 ! Aplasia of the fingers
created_by: doelkens
creation_date: 2009-01-07T04:28:08Z

[Term]
id: HP:0009282
name: Abnormality of the distal phalanx of the 4th finger
synonym: "Abnormality of the outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024471
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
created_by: doelkens
creation_date: 2009-01-07T04:42:40Z

[Term]
id: HP:0009283
name: Abnormality of the middle phalanx of the 4th finger
alt_id: HP:0004204
synonym: "Abnormal middle bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the middle phalanx of the ring finger" EXACT layperson []
xref: UMLS:C4021501
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
created_by: doelkens
creation_date: 2009-01-07T04:42:40Z

[Term]
id: HP:0009284
name: Abnormality of the proximal phalanx of the 4th finger
alt_id: HP:0004199
synonym: "Abnormal innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the proximal phalanx of the ring finger" EXACT layperson []
xref: UMLS:C4021500
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
created_by: doelkens
creation_date: 2009-01-07T04:42:40Z

[Term]
id: HP:0009285
name: Curved phalanges of the 4th finger
def: "Curved appearance of the phalanges of the 4th (ring) finger." [HPO:curators]
synonym: "Curved ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024470
is_a: HP:0004095 ! Curved fingers
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009770 ! Curved phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T03:44:14Z

[Term]
id: HP:0009286
name: Curved distal phalanx of the 4th finger
def: "Curved appearance of the distal phalanx of the 4th (ring) finger." [HPO:curators]
synonym: "Curved outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024469
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009285 ! Curved phalanges of the 4th finger
is_a: HP:0009838 ! Curved distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T03:46:28Z

[Term]
id: HP:0009287
name: Curved middle phalanx of the 4th finger
def: "Curved appearance of the middle phalanx of the 4th (ring) finger." [HPO:curators]
synonym: "Curved middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024468
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009285 ! Curved phalanges of the 4th finger
is_a: HP:0009846 ! Curved middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T03:46:28Z

[Term]
id: HP:0009288
name: Curved proximal phalanx of the 4th finger
synonym: "Curved innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024467
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009285 ! Curved phalanges of the 4th finger
is_a: HP:0009854 ! Curved proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T03:46:28Z

[Term]
id: HP:0009289
name: Aplasia/Hypoplasia of the distal phalanx of the 4th finger
synonym: "Absent/small outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024466
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger
created_by: doelkens
creation_date: 2009-01-08T03:59:04Z

[Term]
id: HP:0009290
name: Short distal phalanx of the 4th finger
def: "Hypoplastic/small distal phalanx of the fourth finger." [HPO:sdoelken]
synonym: "Hypoplastic/small distal phalanx of the 4th finger" EXACT []
synonym: "Short distal phalanx of the fourth finger" EXACT []
synonym: "Short outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021499
is_a: HP:0009280 ! Short 4th finger
is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger
is_a: HP:0009882 ! Short distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-08T03:59:28Z

[Term]
id: HP:0009291
name: Aplasia of the distal phalanx of the 4th finger
def: "Absence of the distal phalanx of the ring (4th) finger." [HPO:curators]
synonym: "Absent outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024465
is_a: HP:0009281 ! Aplasia of the 4th finger
is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T04:00:27Z

[Term]
id: HP:0009292
name: Broad distal phalanx of the 4th finger
def: "Increased width of the distal phalanx of the 4th finger." [HPO:curators]
synonym: "Broad outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024464
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009404 ! Broad phalanges of the 4th finger
is_a: HP:0009836 ! Broad distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009293
name: Broad middle phalanx of the 4th finger
def: "Increased width of the middle phalanx of the 4th finger." [HPO:curators]
synonym: "Broad middle bone of the 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024463
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009404 ! Broad phalanges of the 4th finger
is_a: HP:0009844 ! Broad middle phalanx of finger
created_by: doelkens
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009294
name: Absent middle phalanx of 4th finger
def: "Absence of the middle phalanx of the ring (4th) finger." [HPO:curators]
synonym: "Absent middle bone of 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the middle phalanx of the 4th finger" EXACT []
xref: UMLS:C4021498
is_a: HP:0009281 ! Aplasia of the 4th finger
is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
created_by: doelkens
creation_date: 2009-01-08T04:11:35Z

[Term]
id: HP:0009295
name: Short middle phalanx of the 4th finger
alt_id: HP:0004205
alt_id: HP:0004206
def: "Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger." [HPO:sdoelken]
synonym: "Hypoplastic/small middle phalanx of ring finger" EXACT []
synonym: "Hypoplastic/small middle phalanx of the 4th finger" EXACT []
synonym: "Short middle bone of 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle phalanx of ring finger" EXACT []
xref: UMLS:C4021497
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009280 ! Short 4th finger
is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger
created_by: doelkens
creation_date: 2009-01-08T04:11:35Z

[Term]
id: HP:0009296
name: Bullet-shaped middle phalanx of the 4th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected." [HPO:curators]
synonym: "Bullet-shaped middle bone of the 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024462
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009297
name: Osteolytic defects of the middle phalanx of the 4th finger
def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger." [HPO:curators]
xref: UMLS:C4024461
is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009298
name: Aplasia of the proximal phalanx of the 4th finger
def: "Absence of the proximal phalanx of the ring (4th) finger." [HPO:curators]
synonym: "Absent innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024460
is_a: HP:0009281 ! Aplasia of the 4th finger
is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T04:22:16Z

[Term]
id: HP:0009299
name: Aplasia/Hypoplasia of the middle phalanx of the 4th finger
synonym: "Absent/small middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024459
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger
created_by: doelkens
creation_date: 2009-01-08T04:27:22Z

[Term]
id: HP:0009300
name: Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
alt_id: HP:0004203
synonym: "Absent/small innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020658
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger
created_by: doelkens
creation_date: 2009-01-08T04:28:54Z

[Term]
id: HP:0009301
name: Short proximal phalanx of the 4th finger
def: "Hypoplastic/small proximal phalanx of the fourth finger." [HPO:sdoelken]
synonym: "Hypoplastic/small proximal phalanx of the 4th finger" EXACT []
synonym: "Short innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Short proximal phalanx of the fourth finger" EXACT []
xref: UMLS:C4021496
is_a: HP:0009280 ! Short 4th finger
is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
is_a: HP:0010241 ! Short proximal phalanx of finger
created_by: doelkens
creation_date: 2009-01-08T04:29:38Z

[Term]
id: HP:0009302
name: Bullet-shaped distal phalanx of the 4th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected." [HPO:curators]
synonym: "Bullet-shaped outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024458
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009303
name: Osteolytic defects of the distal phalanx of the 4th finger
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger." [HPO:curators]
xref: UMLS:C4024457
is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009304
name: Patchy sclerosis of the distal phalanx of the 4th finger
def: "Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger." [HPO:probinson]
synonym: "Uneven increase in bone density in the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024456
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100902 ! Sclerosis of the distal phalanx of the 4th finger
created_by: doelkens
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009305
name: Distal/middle symphalangism of 4th finger
alt_id: HP:0009474
alt_id: HP:0009475
def: "Fusion of the terminal/distal and middle phalanges of the 4th finger." [HPO:curators]
synonym: "Fused outermost and middle bones of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the distal and middle phalanges of the 4th finger" EXACT []
xref: UMLS:C4021495
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger
created_by: doelkens
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009306
name: Triangular shaped distal phalanx of the 4th finger
def: "Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024455
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T04:41:33Z

[Term]
id: HP:0009307
name: Patchy sclerosis of the middle phalanx of the 4th finger
def: "Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger." [HPO:probinson]
synonym: "Uneven increase in bone density in the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024454
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100906 ! Sclerosis of the middle phalanx of the 4th finger
created_by: doelkens
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009308
name: Symphalangism of middle phalanx of 4th finger
def: "Fusion of the middle phalanx of the 4th finger with another bone." [HPO:sdoelken]
synonym: "Fused middle bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024453
is_a: HP:0004197 ! Symphalangism of the 4th finger
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
created_by: doelkens
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009309
name: Triangular shaped middle phalanx of the 4th finger
def: "Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024452
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T04:59:22Z

[Term]
id: HP:0009310
name: Broad proximal phalanx of the 4th finger
alt_id: HP:0004201
def: "Increased width of the proximal phalanx of the 4th finger." [HPO:curators]
synonym: "Broad innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020660
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009404 ! Broad phalanges of the 4th finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009311
name: Bullet-shaped proximal phalanx of the 4th finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected." [HPO:curators]
synonym: "Bullet-shaped innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024451
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger
is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009312
name: Osteolytic defects of the proximal phalanx of the 4th finger
alt_id: HP:0004202
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger." [HPO:curators]
xref: UMLS:C4024450
is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009313
name: Patchy sclerosis of the proximal phalanx of the 4th finger
def: "Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger." [HPO:probinson]
synonym: "Uneven increase in bone density in the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024449
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx
is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger
is_a: HP:0100910 ! Sclerosis of the proximal phalanx of the 4th finger
created_by: doelkens
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009314
name: Symphalangism affecting the proximal phalanx of the 4th finger
def: "Fusion of the proximal phalanx of the 4th finger with another bone." [HPO:curators]
synonym: "Fused innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024448
is_a: HP:0004197 ! Symphalangism of the 4th finger
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009315
name: Triangular shaped proximal phalanx of the 4th finger
def: "Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped innermost bone of the 4th finger" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Triangular shaped innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024447
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-08T05:11:48Z

[Term]
id: HP:0009316
name: Abnormal 3rd finger phalanx morphology
alt_id: HP:0004155
def: "Abnormality of the phalanges of the 3rd (middle) finger." [HPO:curators]
synonym: "Abnormality of 3rd finger phalanges" EXACT []
synonym: "Abnormality of middle finger phalanges" EXACT []
synonym: "Abnormality of the middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Abnormality of the phalanges of the 3rd finger" EXACT []
xref: UMLS:C4021494
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-01-12T11:00:24Z

[Term]
id: HP:0009317
name: Deviation of the 3rd finger
alt_id: HP:0004152
def: "Displacement of the 3rd finger from its normal position." [HPO:curators]
synonym: "Deviated middle finger" EXACT layperson []
xref: UMLS:C4021493
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0004150 ! Abnormal 3rd finger morphology
created_by: doelkens
creation_date: 2009-01-12T11:02:27Z

[Term]
id: HP:0009318
name: Aplasia/Hypoplasia of the 3rd finger
def: "A small/hypoplastic or absent/aplastic 3rd (middle) finger." [HPO:curators]
synonym: "Absent/small middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024446
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
created_by: doelkens
creation_date: 2009-01-12T11:04:08Z

[Term]
id: HP:0009319
name: Joint contracture of the 3rd finger
alt_id: HP:0004151
def: "Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson]
synonym: "Camptodactyly of middle finger" EXACT []
xref: UMLS:C4021492
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0012785 ! Flexion contracture of finger
created_by: doelkens
creation_date: 2009-01-12T11:05:43Z

[Term]
id: HP:0009320
name: Abnormality of the epiphyses of the 3rd finger
def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger." [HPO:curators]
synonym: "Abnormality of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024445
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:07:00Z

[Term]
id: HP:0009321
name: Absent epiphysis of the middle phalanx of the 3rd finger
def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger." [HPO:curators]
synonym: "Absent end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024444
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009410 ! Absent epiphyses of the 3rd finger
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009322
name: Bracket epiphysis of the middle phalanx of the 3rd finger
def: "An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024443
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009323
name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger
def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024442
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009324
name: Enlarged epiphysis of the middle phalanx of the 3rd finger
def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024441
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009325
name: Fragmentation of the epiphysis of the middle phalanx of the 3rd finger
def: "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators]
synonym: "Fragmentation of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024440
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009326
name: Irregular epiphysis of the middle phalanx of the 3rd finger
def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators]
synonym: "Irregular end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024439
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009327
name: Ivory epiphysis of the middle phalanx of the 3rd finger
def: "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024438
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009328
name: Pseudoepiphysis of the middle phalanx of the 3rd finger
alt_id: HP:0004176
def: "A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
synonym: "Pseudoepiphyses of middle phalanx of middle-finger" EXACT []
xref: UMLS:C4021491
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009329
name: Small epiphysis of the middle phalanx of the 3rd finger
def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024437
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009418 ! Small epiphyses of the 3rd finger
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009330
name: Stippling of the epiphysis of the middle phalanx of the 3rd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024436
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009331
name: Triangular epiphysis of the middle phalanx of the 3rd finger
def: "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the middle phalanx of the 3rd finger" EXACT []
synonym: "Triangular end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021490
is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger
is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:15:44Z

[Term]
id: HP:0009332
name: Abnormality of the epiphysis of the distal phalanx of the 3rd finger
synonym: "Abnormality of the end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024435
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-12T11:16:06Z

[Term]
id: HP:0009333
name: Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
synonym: "Abnormality of the end part of the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024434
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:16:44Z

[Term]
id: HP:0009334
name: Abnormality of the epiphysis of the middle phalanx of the 3rd finger
synonym: "Abnormality of the end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024433
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:16:44Z

[Term]
id: HP:0009335
name: Absent epiphysis of the distal phalanx of the 3rd finger
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger." [HPO:curators]
synonym: "Absent end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024432
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009410 ! Absent epiphyses of the 3rd finger
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009336
name: Bracket epiphysis of the distal phalanx of the 3rd finger
def: "An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024431
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009337
name: Cone-shaped epiphysis of the distal phalanx of the 3rd finger
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024430
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009338
name: Enlarged epiphysis of the distal phalanx of the 3rd finger
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024429
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009339
name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger
def: "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators]
synonym: "Fragmentation of end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024428
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009340
name: Irregular epiphysis of the distal phalanx of the 3rd finger
def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators]
synonym: "Irregular end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024427
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009341
name: Ivory epiphysis of the distal phalanx of the 3rd finger
def: "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024426
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009342
name: Pseudoepiphysis of the distal phalanx of the 3rd finger
def: "A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
synonym: "Pseudoepiphysis of the outermost bone of the middle finger" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024425
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009343
name: Small epiphysis of the distal phalanx of the 3rd finger
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024424
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009418 ! Small epiphyses of the 3rd finger
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009344
name: Stippling of the epiphysis of the distal phalanx of the 3rd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024423
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009345
name: Triangular epiphysis of the distal phalanx of the 3rd finger
def: "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the distal phalanx of the 3rd finger" EXACT []
synonym: "Triangular end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021489
is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger
is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:18:33Z

[Term]
id: HP:0009346
name: Absent epiphysis of the proximal phalanx of the 3rd finger
def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger." [HPO:curators]
synonym: "Absent end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024422
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009410 ! Absent epiphyses of the 3rd finger
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009347
name: Bracket epiphysis of the proximal phalanx of the 3rd finger
def: "An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024421
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009348
name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger
def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024420
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009349
name: Enlarged epiphysis of the proximal phalanx of the 3rd finger
alt_id: HP:0004171
def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Large epiphysis of proximal middle-finger phalanx" EXACT []
xref: UMLS:C4021488
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger
is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009350
name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators]
synonym: "Fragmentation of end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024419
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009351
name: Irregular epiphysis of the proximal phalanx of the 3rd finger
def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators]
synonym: "Irregular end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024418
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009352
name: Ivory epiphysis of the proximal phalanx of the 3rd finger
def: "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the innermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024417
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009353
name: Pseudoepiphysis of the proximal phalanx of the 3rd finger
def: "A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024416
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009354
name: Small epiphysis of the proximal phalanx of the 3rd finger
def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024415
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009418 ! Small epiphyses of the 3rd finger
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009355
name: Stippling of the epiphysis of the proximal phalanx of the 3rd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators]
synonym: "Speckled calcifications in end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024414
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009356
name: Triangular epiphysis of the proximal phalanx of the 3rd finger
def: "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger" EXACT []
synonym: "Triangular end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021487
is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger
is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-12T11:19:03Z

[Term]
id: HP:0009357
name: Abnormality of the distal phalanx of the 3rd finger
alt_id: HP:0004179
synonym: "Abnormality of terminal phalanx of middle-finger" EXACT []
synonym: "Abnormality of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021486
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
created_by: doelkens
creation_date: 2009-01-12T11:40:58Z

[Term]
id: HP:0009358
name: Abnormality of the proximal phalanx of the 3rd finger
alt_id: HP:0004167
synonym: "Abnormal innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of proximal middle-finger phalanx" EXACT []
xref: UMLS:C4021485
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
created_by: doelkens
creation_date: 2009-01-12T11:42:37Z

[Term]
id: HP:0009370
name: Type A brachydactyly
xref: UMLS:C4024413
is_a: HP:0001156 ! Brachydactyly
created_by: doelkens
creation_date: 2009-01-13T10:50:19Z

[Term]
id: HP:0009371
name: Type A1 brachydactyly
xref: MSH:C537088
xref: SNOMEDCT_US:715720006
xref: UMLS:C1862151
is_a: HP:0009370 ! Type A brachydactyly
created_by: doelkens
creation_date: 2009-01-13T10:50:19Z

[Term]
id: HP:0009372
name: Type A2 brachydactyly
synonym: "Short index fingers and second toes" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:C537089
xref: UMLS:C1832702
is_a: HP:0009370 ! Type A brachydactyly
created_by: doelkens
creation_date: 2009-01-13T10:50:19Z

[Term]
id: HP:0009373
name: Type C brachydactyly
xref: MSH:C537093
xref: UMLS:C1862103
is_a: HP:0001156 ! Brachydactyly
created_by: doelkens
creation_date: 2009-01-13T10:50:19Z

[Term]
id: HP:0009374
name: Broad phalanges of the 5th finger
def: "Increased width of the phalanges of the 5th finger." [HPO:curators]
synonym: "Broad little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024412
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009768 ! Broad phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T10:55:04Z

[Term]
id: HP:0009375
name: Bullet-shaped phalanges of the 5th finger
def: "A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators]
synonym: "Bullet-shaped little finger bones" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Bullet-shaped pinkie finger bones" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Bullet-shaped pinky finger bones" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024411
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T10:58:05Z

[Term]
id: HP:0009376
name: Aplasia/Hypoplasia of the phalanges of the 5th finger
def: "Aplasia/Hypoplasia of the phalanges of the 5th finger." [HPO:curators]
synonym: "Absent/small little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024410
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T11:58:25Z

[Term]
id: HP:0009377
name: Patchy sclerosis of 5th finger phalanx
def: "Uneven increase in bone density of one or more of the phalanges of the 5th finger." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the 5th finger" EXACT []
synonym: "Uneven increase in bone density in little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021484
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100921 ! Sclerosis of 5th finger phalanx
created_by: doelkens
creation_date: 2009-01-13T12:00:02Z

[Term]
id: HP:0009378
name: Triangular shaped phalanges of the 5th finger
def: "Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024409
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T12:00:35Z

[Term]
id: HP:0009379
name: Rhomboid or triangular shaped 5th finger distal phalanx
def: "Rhomboid or triangular shaped 5th (little) finger distal phalanx." [HPO:curators]
synonym: "Rhomboid or triangular shaped little finger bone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Rhomboid or triangular shaped pinkie finger bone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Rhomboid or triangular shaped pinky finger bone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024408
is_a: HP:0009245 ! Triangular shaped distal phalanx of the 5th finger
created_by: doelkens
creation_date: 2009-01-13T01:01:44Z

[Term]
id: HP:0009380
name: Aplasia of the fingers
alt_id: HP:0004093
def: "Aplasia of one or more fingers." [HPO:curators]
synonym: "Absent fingers" EXACT layperson []
xref: SNOMEDCT_US:71358006
xref: UMLS:C0728895
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
created_by: doelkens
creation_date: 2009-01-13T01:05:32Z

[Term]
id: HP:0009381
name: Short finger
alt_id: HP:0004098
alt_id: HP:0006015
def: "Abnormally short finger associated with developmental hypoplasia." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic digits" EXACT []
synonym: "Hypoplastic fingers" EXACT []
synonym: "Hypoplastic/small fingers" EXACT []
synonym: "Short finger" EXACT layperson []
synonym: "Stubby finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stubby fingers" EXACT layperson []
xref: SNOMEDCT_US:249765007
xref: UMLS:C0239594
xref: UMLS:C1844548
is_a: HP:0005922 ! Abnormal hand morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
is_a: HP:0011927 ! Short digit
created_by: doelkens
creation_date: 2009-01-13T01:07:38Z

[Term]
id: HP:0009382
name: Absent epiphyses of the 5th finger
def: "Absence of one or more epiphyses of the 5th finger." [HPO:curators]
synonym: "Absent end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024407
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009383
name: Bracket epiphyses of the 5th finger
def: "An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024406
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009384
name: Cone-shaped epiphyses of the 5th finger
def: "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024405
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009385
name: Enlarged epiphyses of the 5th finger
def: "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024404
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009386
name: Fragmentation of the epiphyses of the 5th finger
def: "Fragmented appearance of the epiphyses of the 5th finger." [HPO:curators]
synonym: "Fragmentation of the end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024403
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009387
name: Irregular epiphyses of the 5th finger
def: "Irregular radiographic opacity of the epiphyses of the 5th finger." [HPO:curators]
synonym: "Irregular end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024402
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009388
name: Ivory epiphyses of the 5th finger
def: "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024401
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100921 ! Sclerosis of 5th finger phalanx
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009389
name: Pseudoepiphyses of the 5th finger
def: "A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024400
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009390
name: Small epiphyses of the 5th finger
def: "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024399
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009391
name: Stippling of the epiphyses of the 5th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger." [HPO:curators]
synonym: "Speckled calcifications in end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024398
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009392
name: Triangular epiphyses of the 5th finger
def: "A triangular appearance of the epiphyses of the 5th finger of the hand." [HPO:curators]
synonym: "Delta-shaped epiphyses of the 5th finger" EXACT []
synonym: "Triangular end part of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021483
is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:19:03Z

[Term]
id: HP:0009393
name: Absent epiphyses of the 4th finger
def: "Absence of one or more epiphyses of the 4th finger." [HPO:curators]
synonym: "Absent end part of the ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024397
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009394
name: Bracket epiphyses of the 4th finger
alt_id: HP:0004192
def: "An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024396
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009395
name: Cone-shaped epiphyses of the 4th finger
def: "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024395
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009396
name: Enlarged epiphyses of the 4th finger
def: "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024394
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009397
name: Fragmentation of the epiphyses of the 4th finger
def: "Fragmented appearance of the epiphyses of the 4th finger." [HPO:curators]
synonym: "Fragmentation of the end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024393
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009398
name: Irregular epiphyses of the 4th finger
def: "Irregular radiographic opacity of the epiphyses of the 4th finger." [HPO:curators]
synonym: "Irregular end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024392
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009399
name: Ivory epiphyses of the 4th finger
def: "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024391
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100920 ! Sclerosis of 4th finger phalanx
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009400
name: Pseudoepiphyses of the 4th finger
def: "A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024390
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009401
name: Small epiphyses of the 4th finger
def: "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024389
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009402
name: Stippling of the epiphyses of the 4th finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger." [HPO:curators]
synonym: "Speckled calcifications in end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024388
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009403
name: Triangular epiphyses of the 4th finger
def: "A triangular appearance of the epiphyses of the 4th finger of the hand." [HPO:curators]
synonym: "Delta-shaped epiphyses of the 4th finger" EXACT []
synonym: "Triangular end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021482
is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T01:59:12Z

[Term]
id: HP:0009404
name: Broad phalanges of the 4th finger
def: "Increased width of the phalanges of the 4th finger." [HPO:curators]
synonym: "Broad bones of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024387
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009768 ! Broad phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009405
name: Bullet-shaped phalanges of the 4th finger
def: "A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators]
synonym: "Bullet-shaped of bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024386
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009406
name: Patchy sclerosis of 4th finger phalanx
def: "Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the 4th finger" EXACT []
synonym: "Uneven increase in bone density in ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021481
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100920 ! Sclerosis of 4th finger phalanx
created_by: doelkens
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009407
name: Triangular shaped phalanges of the 4th finger
def: "Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024385
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009408
name: Aplasia/Hypoplasia of the phalanges of the 4th finger
synonym: "Absent/small ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024384
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-13T02:37:29Z

[Term]
id: HP:0009410
name: Absent epiphyses of the 3rd finger
def: "Absence of the epiphyses of the 3rd finger." [HPO:curators]
synonym: "Absent end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024383
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009411
name: Bracket epiphyses of the 3rd finger
def: "An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024382
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009412
name: Cone-shaped epiphyses of the 3rd finger
def: "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators]
synonym: "Cone-shaped end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024381
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009413
name: Enlarged epiphyses of the 3rd finger
def: "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024380
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009414
name: Fragmentation of the epiphyses of the 3rd finger
def: "Fragmented appearance of the epiphyses of the 3rd finger." [HPO:curators]
synonym: "Fragmentation of end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024379
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009415
name: Irregular epiphyses of the 3rd finger
def: "Irregular radiographic opacity of the epiphyses of the 3rd finger." [HPO:curators]
synonym: "Irregular end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024378
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009416
name: Ivory epiphyses of the 3rd finger
def: "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024377
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009417
name: Pseudoepiphyses of the 3rd finger
alt_id: HP:0004163
def: "A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
synonym: "Pseudoepiphyses of middle finger phalanges" EXACT []
xref: UMLS:C4021480
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009418
name: Small epiphyses of the 3rd finger
def: "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024376
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009419
name: Stippling of the epiphyses of the 3rd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger." [HPO:curators]
synonym: "Speckled calcifications in end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024375
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009420
name: Triangular epiphyses of the 3rd finger
def: "A triangular appearance of the epiphyses of the 3rd finger of the hand." [HPO:curators]
synonym: "Delta-shaped epiphyses of the 3rd finger" EXACT []
synonym: "Triangular end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021479
is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T02:01:59Z

[Term]
id: HP:0009421
name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
synonym: "Absent/small outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024374
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger
created_by: doelkens
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009422
name: Broad distal phalanx of the 3rd finger
def: "Increased width of the distal phalanx of the 3rd finger." [HPO:curators]
synonym: "Broad outermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024373
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009440 ! Broad phalanges of the 3rd finger
is_a: HP:0009836 ! Broad distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009423
name: Bullet-shaped distal phalanx of the 3rd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected." [HPO:curators]
synonym: "Bullet-shaped outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024372
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009424
name: Osteolytic defects of the distal phalanx of the 3rd finger
alt_id: HP:0004181
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger." [HPO:curators]
synonym: "Lytic defect of terminal phalanx of middle finger" EXACT []
xref: UMLS:C4021478
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009425
name: Patchy sclerosis of the distal phalanx of the 3rd finger
def: "Uneven (irregular) increase in bone density of the distal phalanx of the third finger." [HPO:probinson]
synonym: "Uneven increase in bone density in the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024371
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100901 ! Sclerosis of the distal phalanx of the 3rd finger
created_by: doelkens
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009426
name: Distal/middle symphalangism of 3rd finger
alt_id: HP:0009479
alt_id: HP:0009480
def: "Fusion of the terminal/distal and middle phalanges of the 3rd finger." [HPO:curators]
synonym: "Fused outermost and middle bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the distal and middle phalanges of the 3rd finger" EXACT []
xref: UMLS:C4021477
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger
created_by: doelkens
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009427
name: Triangular shaped distal phalanx of the 3rd finger
def: "Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024370
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009428
name: Curved distal phalanx of the 3rd finger
def: "Curved appearance of the distal phalanx of the 3rd finger." [HPO:curators]
synonym: "Curved outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024369
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009442 ! Curved phalanges of the 3rd finger
is_a: HP:0009838 ! Curved distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:16:46Z

[Term]
id: HP:0009429
name: Aplasia of the distal phalanx of the 3rd finger
def: "Absence of the distal phalanx of the middle (3rd) finger." [HPO:curators]
synonym: "Absent of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024368
is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
is_a: HP:0009460 ! Aplasia of the 3rd finger
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:18:42Z

[Term]
id: HP:0009430
name: Broad middle phalanx of the 3rd finger
alt_id: HP:0004178
def: "Increased width of the middle phalanx of the 3rd finger." [HPO:curators]
synonym: "Broad middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide/broad middle phalanx of middle-finger" EXACT []
xref: UMLS:C4021476
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009440 ! Broad phalanges of the 3rd finger
is_a: HP:0009844 ! Broad middle phalanx of finger
created_by: doelkens
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009431
name: Bullet-shaped middle phalanx of the 3rd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected." [HPO:curators]
synonym: "Bullet-shaped middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024367
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009432
name: Curved middle phalanx of the 3rd finger
def: "Curved appearance of the middle phalanx of the 3rd (middle) finger." [HPO:curators]
synonym: "Curved middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024366
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009442 ! Curved phalanges of the 3rd finger
is_a: HP:0009846 ! Curved middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009433
name: Osteolytic defects of the middle phalanx of the 3rd finger
def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger." [HPO:curators]
xref: UMLS:C4024365
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009434
name: Patchy sclerosis of the middle phalanx of the 3rd finger
def: "Uneven (irregular) increase in bone density of the middle phalanx of the third finger." [HPO:probinson]
synonym: "Uneven increase in bone density in the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024364
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100905 ! Sclerosis of the middle phalanx of the 3rd finger
created_by: doelkens
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009435
name: Symphalangism of middle phalanx of 3rd finger
def: "Fusion of the middle phalanx of the 3rd finger with another bone." [HPO:curators]
synonym: "Fused middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024363
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009445 ! Symphalangism of the 3rd finger
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
created_by: doelkens
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009436
name: Triangular shaped middle phalanx of the 3rd finger
def: "Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024362
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009437
name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
synonym: "Absent/small middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024361
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger
created_by: doelkens
creation_date: 2009-01-14T03:41:31Z

[Term]
id: HP:0009438
name: Absent middle phalanx of 3rd finger
alt_id: HP:0004173
def: "Absence of the middle phalanx of the middle (3rd) finger." [HPO:sdoelken]
synonym: "Absent middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle phalanx of middle finger" EXACT []
synonym: "Aplasia of the middle phalanx of the 3rd finger" EXACT []
xref: UMLS:C4021475
is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
is_a: HP:0009460 ! Aplasia of the 3rd finger
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
created_by: doelkens
creation_date: 2009-01-14T03:45:02Z

[Term]
id: HP:0009439
name: Short middle phalanx of the 3rd finger
alt_id: HP:0004177
alt_id: HP:0006212
def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger." [HPO:sdoelken]
synonym: "Hypoplastic/small middle phalanx of the 3rd finger" EXACT []
synonym: "Short middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021474
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
is_a: HP:0009461 ! Short 3rd finger
created_by: doelkens
creation_date: 2009-01-14T03:45:02Z

[Term]
id: HP:0009440
name: Broad phalanges of the 3rd finger
alt_id: HP:0004166
def: "Increased width of the phalanges of the 3rd finger." [HPO:curators]
synonym: "Wide bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide/broad middle finger phalanges" EXACT []
xref: UMLS:C4021473
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009768 ! Broad phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009441
name: Bullet-shaped phalanges of the 3rd finger
def: "A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators]
synonym: "Bullet-shaped bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024360
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009442
name: Curved phalanges of the 3rd finger
def: "Curved appearance of the phalanges of the 3rd finger." [HPO:curators]
synonym: "Curved bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024359
is_a: HP:0004095 ! Curved fingers
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009770 ! Curved phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009443
name: Osteolytic defects of the phalanges of the 3rd finger
alt_id: HP:0004159
def: "Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger." [HPO:curators]
synonym: "Lytic defects of middle finger phalanges" EXACT []
xref: UMLS:C4021472
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009444
name: Patchy sclerosis of 3rd finger phalanx
alt_id: HP:0004160
def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger." [HPO:probinson]
synonym: "Patchy sclerosis of middle finger phalanges" EXACT []
synonym: "Patchy sclerosis of the phalanges of the 3rd finger" EXACT []
synonym: "Uneven increase in bone density in middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021471
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx
created_by: doelkens
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009445
name: Symphalangism of the 3rd finger
def: "Fusion of two or more bones of the 3rd finger." [HPO:curators]
synonym: "Fused middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024358
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009446
name: Triangular shaped phalanges of the 3rd finger
def: "Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped bone of the middle finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024357
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009447
name: Aplasia/Hypoplasia of the phalanges of the 3rd finger
alt_id: HP:0004156
alt_id: HP:0004158
alt_id: HP:0004164
alt_id: HP:0004165
alt_id: HP:0009449
synonym: "Absent/small middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypoplastic middle finger phalanges" EXACT []
synonym: "Short middle finger phalanges" EXACT []
synonym: "Small middle finger phalanges" EXACT []
xref: UMLS:C4024356
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:09:01Z

[Term]
id: HP:0009448
name: obsolete Aplasia of the phalanges of the 3rd finger
is_obsolete: true
consider: HP:0009447

[Term]
id: HP:0009449
name: obsolete Hypoplastic/small phalanges of the 3rd finger
is_obsolete: true
replaced_by: HP:0009447

[Term]
id: HP:0009450
name: Broad proximal phalanx of the 3rd finger
def: "Increased width of the proximal phalanx of the 3rd finger." [HPO:curators]
synonym: "Broad innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024355
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009440 ! Broad phalanges of the 3rd finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009451
name: Bullet-shaped proximal phalanx of the 3rd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected." [HPO:curators]
synonym: "Bullet-shaped innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024354
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger
is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009452
name: Curved proximal phalanx of the 3rd finger
def: "Curved appearance of the proximal phalanx of the 3rd finger." [HPO:curators]
synonym: "Curved innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024353
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009442 ! Curved phalanges of the 3rd finger
is_a: HP:0009854 ! Curved proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009453
name: Osteolytic defects of the proximal phalanx of the 3rd finger
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger." [HPO:curators]
xref: UMLS:C4024352
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger
is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009454
name: Patchy sclerosis of the proximal phalanx of the 3rd finger
def: "Uneven (irregular) increase in bone density of the proximal phalanx of the third finger." [HPO:probinson]
synonym: "Uneven increase in bone density in the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024351
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx
is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger
is_a: HP:0100909 ! Sclerosis of the proximal phalanx of the 3rd finger
created_by: doelkens
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009455
name: Symphalangism affecting the proximal phalanx of the 3rd finger
def: "Fusion of the proximal phalanx of the 3rd finger with another bone." [HPO:curators]
synonym: "Fused innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024350
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009445 ! Symphalangism of the 3rd finger
is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009456
name: Triangular shaped proximal phalanx of the 3rd finger
def: "Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024349
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:33:41Z

[Term]
id: HP:0009457
name: Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
synonym: "Absent/small innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024348
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger
created_by: doelkens
creation_date: 2009-01-14T04:34:45Z

[Term]
id: HP:0009458
name: Aplasia of the proximal phalanx of the 3rd finger
def: "Absence of the proximal phalanx of the 3rd finger." [HPO:curators]
synonym: "Absent innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024347
is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
is_a: HP:0009460 ! Aplasia of the 3rd finger
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-14T04:35:28Z

[Term]
id: HP:0009459
name: Short proximal phalanx of the 3rd finger
alt_id: HP:0004169
alt_id: HP:0004170
def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger." [HPO:sdoelken]
synonym: "Hypoplastic/small proximal phalanx of the 3rd finger" EXACT []
synonym: "Short innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short proximal middle-finger phalanx" EXACT []
synonym: "Short proximal phalanx of the third finger" EXACT []
synonym: "Small proximal middle-finger phalanx" EXACT []
xref: UMLS:C4021470
is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
is_a: HP:0009461 ! Short 3rd finger
is_a: HP:0010241 ! Short proximal phalanx of finger
created_by: doelkens
creation_date: 2009-01-14T04:35:28Z

[Term]
id: HP:0009460
name: Aplasia of the 3rd finger
def: "Absent 3rd finger." [HPO:curators]
synonym: "Absent middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024346
is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger
is_a: HP:0009380 ! Aplasia of the fingers
created_by: doelkens
creation_date: 2009-01-14T04:56:33Z

[Term]
id: HP:0009461
name: Short 3rd finger
alt_id: HP:0004154
def: "Hypoplastic/small 3rd (middle) finger." [HPO:sdoelken]
synonym: "Hypoplastic/small 3rd finger" EXACT []
synonym: "Short 3rd finger" EXACT layperson []
synonym: "Short middle finger" EXACT layperson []
xref: UMLS:C4021469
is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger
is_a: HP:0009381 ! Short finger
created_by: doelkens
creation_date: 2009-01-14T04:57:43Z

[Term]
id: HP:0009462
name: Radial deviation of the 3rd finger
def: "Displacement of the 3rd finger towards the radial side (i.e., towards the thumb)." [HPO:sdoelken]
synonym: "Inward turned middle finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024345
is_a: HP:0009317 ! Deviation of the 3rd finger
is_a: HP:0009466 ! Radial deviation of finger
created_by: doelkens
creation_date: 2009-01-15T09:35:10Z

[Term]
id: HP:0009463
name: Ulnar deviation of the 3rd finger
alt_id: HP:0005865
alt_id: HP:0006022
def: "Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger)." [HPO:sdoelken]
synonym: "Ulnar deviation of middle fingers" EXACT []
xref: UMLS:C3554614
is_a: HP:0009317 ! Deviation of the 3rd finger
is_a: HP:0009465 ! Ulnar deviation of finger
created_by: doelkens
creation_date: 2009-01-15T09:35:47Z

[Term]
id: HP:0009464
name: Ulnar deviation of the 2nd finger
alt_id: HP:0004102
alt_id: HP:0005811
def: "Displacement of the 2nd (index) finger towards the ulnar side." [HPO:curators]
synonym: "Medially deviated index finger" EXACT []
synonym: "Second finger ulnar deviation" EXACT []
synonym: "Ulnar angulation of the index finger" EXACT []
synonym: "Ulnar deviation of index fingers" EXACT []
xref: UMLS:C1844891
is_a: HP:0009465 ! Ulnar deviation of finger
is_a: HP:0009468 ! Deviation of the 2nd finger
created_by: doelkens
creation_date: 2009-01-15T09:37:48Z

[Term]
id: HP:0009465
name: Ulnar deviation of finger
alt_id: HP:0001200
alt_id: HP:0004096
def: "Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "Finger bends toward pinky" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
synonym: "Ulnar Drift" EXACT []
xref: SNOMEDCT_US:276662009
xref: SNOMEDCT_US:367510009
xref: UMLS:C0231679
is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand
is_a: HP:0004097 ! Deviation of finger
created_by: doelkens
creation_date: 2009-01-15T09:39:43Z

[Term]
id: HP:0009466
name: Radial deviation of finger
alt_id: HP:0001157
alt_id: HP:0001213
alt_id: HP:0001503
def: "Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "Radially deviated fingers" EXACT []
synonym: "Radially deviated phalanges" EXACT []
xref: UMLS:C1836189
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand
created_by: doelkens
creation_date: 2009-01-15T09:40:27Z

[Term]
id: HP:0009467
name: Radial deviation of the 2nd finger
alt_id: HP:0004103
alt_id: HP:0006053
def: "Displacement of the 2nd finger towards the radial side." [HPO:curators]
synonym: "Radially deviated index finger" EXACT []
synonym: "Second finger clinodactyly" EXACT []
xref: UMLS:C1844709
is_a: HP:0009466 ! Radial deviation of finger
is_a: HP:0009468 ! Deviation of the 2nd finger
created_by: doelkens
creation_date: 2009-01-15T09:40:58Z

[Term]
id: HP:0009468
name: Deviation of the 2nd finger
alt_id: HP:0004101
def: "Displacement of the 2nd finger from its normal position." [HPO:curators]
synonym: "Deviated index finger" EXACT []
synonym: "Displaced index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021468
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0004100 ! Abnormal 2nd finger morphology
created_by: doelkens
creation_date: 2009-01-15T09:42:36Z

[Term]
id: HP:0009469
name: Contracture of the distal interphalangeal joint of the 3rd finger
def: "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:probinson]
synonym: "Contracture of the outermost hinge joint of the 3rd finger" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024344
is_a: HP:0009319 ! Joint contracture of the 3rd finger
is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers
created_by: doelkens
creation_date: 2009-01-15T09:50:20Z

[Term]
id: HP:0009470
name: Contracture of the metacarpophalangeal joint of the 3rd finger
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators]
xref: UMLS:C4024343
is_a: HP:0009319 ! Joint contracture of the 3rd finger
created_by: doelkens
creation_date: 2009-01-15T09:50:20Z

[Term]
id: HP:0009471
name: Contracture of the proximal interphalangeal joint of the 3rd finger
def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators]
synonym: "Camptodactyly of the 3rd finger" EXACT []
synonym: "Camptodactyly of the third finger" EXACT []
xref: UMLS:C4021467
is_a: HP:0009319 ! Joint contracture of the 3rd finger
is_a: HP:0100490 ! Camptodactyly of finger
created_by: doelkens
creation_date: 2009-01-15T09:50:20Z

[Term]
id: HP:0009473
name: Joint contracture of the hand
alt_id: HP:0001160
alt_id: HP:0001237
alt_id: HP:0004094
alt_id: HP:0005814
alt_id: HP:0006096
alt_id: HP:0006173
alt_id: HP:0006215
alt_id: HP:0006238
alt_id: HP:0006255
alt_id: HP:0009409
alt_id: HP:0009472
alt_id: HP:0010563
def: "Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue." [HPO:sdoelken]
subset: hposlim_core
synonym: "Contractures involving the hands" EXACT []
synonym: "Contractures of the hands" EXACT []
xref: MEDDRA:10010821 "Contracture of hand joint"
xref: SNOMEDCT_US:86414002
xref: UMLS:C0158113
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0009810 ! Abnormality of upper limb joint
is_a: HP:0100360 ! Contractures of the joints of the upper limbs
created_by: doelkens
creation_date: 2009-01-15T09:59:59Z

[Term]
id: HP:0009477
name: Proximal/middle symphalangism of 4th finger
alt_id: HP:0009476
def: "Fusion of the proximal and middle phalanges of the 4th finger." [HPO:sdoelken]
synonym: "Fused innermost and middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024342
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger
is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger
created_by: doelkens
creation_date: 2009-01-15T10:24:03Z

[Term]
id: HP:0009478
name: Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal
def: "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal." [HPO:curators]
synonym: "Fused innermost bone of ring finger with 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024341
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger
is_a: HP:0009707 ! Synostosis involving the 4th metacarpal
created_by: doelkens
creation_date: 2009-01-15T10:24:03Z

[Term]
id: HP:0009482
name: Proximal/middle symphalangism of 3rd finger
alt_id: HP:0009481
def: "Fusion of the proximal and middle phalanges of the 3rd finger." [HPO:curators]
synonym: "Fused of innermost and middle bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024340
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger
is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger
created_by: doelkens
creation_date: 2009-01-15T10:29:08Z

[Term]
id: HP:0009483
name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal
def: "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal." [HPO:curators]
synonym: "Fused innermost bones of middle finger with middle long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024339
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger
is_a: HP:0009706 ! Synostosis involving the 3rd metacarpal
created_by: doelkens
creation_date: 2009-01-15T10:29:08Z

[Term]
id: HP:0009484
name: Deviation of the hand or of fingers of the hand
def: "Displacement of the hand or of fingers of the hand from their normal position." [HPO:curators]
synonym: "Displaced hand or fingers of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024338
is_a: HP:0001155 ! Abnormality of the hand
created_by: doelkens
creation_date: 2009-01-15T10:45:01Z

[Term]
id: HP:0009485
name: Radial deviation of the hand or of fingers of the hand
xref: UMLS:C4024337
is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand
created_by: doelkens
creation_date: 2009-01-15T10:49:51Z

[Term]
id: HP:0009486
name: Radial deviation of the hand
alt_id: HP:0001203
def: "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [HPO:probinson]
subset: hposlim_core
synonym: "Radial deviation of hands" EXACT []
xref: SNOMEDCT_US:299035006
xref: UMLS:C0575803
is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand
created_by: doelkens
creation_date: 2009-01-15T10:51:21Z

[Term]
id: HP:0009487
name: Ulnar deviation of the hand
def: "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger)." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "Ulnar deviation of hands" EXACT [HPO:skoehler]
synonym: "Ulnar deviation of the hands" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:249757009
xref: UMLS:C0241521
is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand
created_by: doelkens
creation_date: 2009-01-15T10:51:52Z

[Term]
id: HP:0009488
name: Absent epiphyses of the 2nd finger
def: "Absence of the epiphyses of the 2nd finger." [HPO:curators]
synonym: "Absent end part of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024336
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009489
name: Bracket epiphyses of the 2nd finger
alt_id: HP:0004109
def: "An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket-epiphyses of index finger" EXACT []
xref: UMLS:C4021466
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009490
name: Cone-shaped epiphyses of the 2nd finger
def: "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024335
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009491
name: Enlarged epiphyses of the 2nd finger
def: "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024334
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009492
name: Fragmentation of the epiphyses of the 2nd finger
def: "Fragmented appearance of the epiphyses of the 2nd finger." [HPO:curators]
synonym: "Fragmentation of end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024333
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009493
name: Irregular epiphyses of the 2nd finger
def: "Irregular radiographic opacity of the epiphyses of the 2nd finger." [HPO:curators]
synonym: "Irregular end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024332
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009494
name: Ivory epiphyses of the 2nd finger
def: "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024331
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009495
name: Pseudoepiphyses of the 2nd finger
alt_id: HP:0004107
alt_id: HP:0006142
def: "A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
synonym: "Accessory index finger phalanges" EXACT []
xref: UMLS:C4021465
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009496
name: Small epiphyses of the 2nd finger
def: "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024330
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009497
name: Stippling of the epiphyses of the 2nd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024329
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009498
name: Triangular epiphyses of the 2nd finger
def: "A triangular appearance of the epiphyses of the 2nd finger of the hand." [HPO:curators]
synonym: "Triangular end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024328
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:07:16Z

[Term]
id: HP:0009499
name: Abnormality of the epiphysis of the distal phalanx of the 2nd finger
alt_id: HP:0004146
synonym: "Abnormality of the end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Epiphyseal abnormality of terminal index finger phalanx" EXACT []
xref: UMLS:C4021464
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-16T01:08:35Z

[Term]
id: HP:0009500
name: Abnormality of the epiphysis of the middle phalanx of the 2nd finger
alt_id: HP:0004135
synonym: "Abnormality of end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Epiphyseal abnormality of middle phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021463
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:08:35Z

[Term]
id: HP:0009501
name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004127
synonym: "Abnormality of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Epiphyseal abnormality of the proximal phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021462
is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:08:35Z

[Term]
id: HP:0009502
name: Absent epiphysis of the distal phalanx of the 2nd finger
alt_id: HP:0004147
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger." [HPO:curators]
synonym: "Absent end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent ossification/absent epiphysis of terminal index finger phalanx" EXACT []
xref: UMLS:C4021461
is_a: HP:0009488 ! Absent epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009503
name: Bracket epiphysis of the distal phalanx of the 2nd finger
def: "An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024327
is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009504
name: Cone-shaped epiphysis of the distal phalanx of the 2nd finger
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators]
synonym: "Cone-shaped end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024326
is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009505
name: Enlarged epiphysis of the distal phalanx of the 2nd finger
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024325
is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009506
name: Fragmentation of the epiphysis of the distal phalanx of the 2nd finger
def: "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators]
synonym: "Fragmentation of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024324
is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009507
name: Irregular epiphysis of the distal phalanx of the 2nd finger
def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators]
synonym: "Irregular end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024323
is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009508
name: Ivory epiphysis of the distal phalanx of the 2nd finger
alt_id: HP:0004148
def: "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Ivory epiphysis of terminal index finger phalanx" EXACT []
xref: UMLS:C4021460
is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009509
name: Pseudoepiphysis of the distal phalanx of the 2nd finger
def: "A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024322
is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009510
name: Small epiphysis of the distal phalanx of the 2nd finger
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024321
is_a: HP:0009496 ! Small epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009511
name: Stippling of the epiphysis of the distal phalanx of the 2nd finger
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators]
synonym: "Speckled calcifications in end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024320
is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009512
name: Triangular epiphysis of the distal phalanx of the 2nd finger
def: "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Triangular end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024319
is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger
is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:11:04Z

[Term]
id: HP:0009513
name: Absent epiphysis of the middle phalanx of the 2nd finger
alt_id: HP:0004136
synonym: "Absent epiphyses of middle phalanx of index finger" EXACT []
synonym: "Missing end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021459
is_a: HP:0009488 ! Absent epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009514
name: Bracket epiphysis of the middle phalanx of the 2nd finger
def: "An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024318
is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009515
name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger
alt_id: HP:0004137
synonym: "Cone-shaped end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses of middle phalanx of index finger" EXACT []
xref: UMLS:C4021458
is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009516
name: Enlarged epiphysis of the middle phalanx of the 2nd finger
synonym: "Enlarged end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024317
is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009517
name: Fragmentation of the epiphysis of the middle phalanx of the 2nd finger
synonym: "Fragmentation of end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024316
is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009518
name: Irregular epiphysis of the middle phalanx of the 2nd finger
synonym: "Irregular end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024315
is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009519
name: Ivory epiphysis of the middle phalanx of the 2nd finger
synonym: "Increased bone density of end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024314
is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009520
name: Pseudoepiphysis of the middle phalanx of the 2nd finger
def: "A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024313
is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009521
name: Small epiphysis of the middle phalanx of the 2nd finger
synonym: "Small end part of the innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024312
is_a: HP:0009496 ! Small epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009522
name: Stippling of the epiphysis of the middle phalanx of the 2nd finger
synonym: "Speckled calcifications in end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024311
is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009523
name: Triangular epiphysis of the middle phalanx of the 2nd finger
synonym: "Triangular end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024310
is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger
is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:17Z

[Term]
id: HP:0009524
name: Absent epiphysis of the proximal phalanx of the 2nd finger
synonym: "Absent end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024309
is_a: HP:0009488 ! Absent epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009525
name: Bracket epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004120
def: "An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket epiphyses of proximal index finger phalanx" EXACT []
synonym: "Bracket shaped end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021457
is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009526
name: Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004128
synonym: "Cone-shaped end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped epiphysis of proximal index finger phalanx" EXACT []
xref: UMLS:C4021456
is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009527
name: Enlarged epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004129
synonym: "Enlarged end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Large epiphysis of proximal index finger phalanx" EXACT []
xref: UMLS:C4021455
is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009528
name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
synonym: "Fragmentation of end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024308
is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009529
name: Irregular epiphysis of the proximal phalanx of the 2nd finger
synonym: "Irregular end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024307
is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009530
name: Ivory epiphysis of the proximal phalanx of the 2nd finger
synonym: "Increased bone density of end part of the innermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024306
is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009531
name: Pseudoepiphysis of the proximal phalanx of the 2nd finger
def: "A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4024305
is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009532
name: Small epiphysis of the proximal phalanx of the 2nd finger
synonym: "Small end part of proximal long bond of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024304
is_a: HP:0009496 ! Small epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009533
name: Stippling of the epiphysis of the proximal phalanx of the 2nd finger
synonym: "Speckled calcifications in end part of the innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024303
is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009534
name: Triangular epiphysis of the proximal phalanx of the 2nd finger
alt_id: HP:0004130
synonym: "Triangular end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular epiphysis of proximal index finger phalanx" EXACT []
xref: UMLS:C4021454
is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger
is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-16T01:12:34Z

[Term]
id: HP:0009535
name: Aplasia of the 2nd finger
alt_id: HP:0004106
def: "Absent 2nd (index) finger." [HPO:curators]
synonym: "Absent index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent index finger phalanges" EXACT []
synonym: "Aplasia of the index finger" EXACT []
xref: UMLS:C4021453
is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger
is_a: HP:0009380 ! Aplasia of the fingers
created_by: doelkens
creation_date: 2009-01-19T04:18:22Z

[Term]
id: HP:0009536
name: Short 2nd finger
alt_id: HP:0004104
alt_id: HP:0004113
alt_id: HP:0004115
alt_id: HP:0005796
def: "Hypoplasia of the second finger, also known as the index finger." [HPO:sdoelken]
synonym: "Hypoplastic index finger phalanges" EXACT []
synonym: "Hypoplastic/small index finger" EXACT []
synonym: "Short index finger" EXACT layperson []
synonym: "Short index finger phalanges" EXACT []
synonym: "Short index fingers" EXACT layperson []
xref: UMLS:C1862142
is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger
is_a: HP:0009381 ! Short finger
created_by: doelkens
creation_date: 2009-01-19T04:18:22Z

[Term]
id: HP:0009537
name: Flexion contracture of the 2nd finger
def: "Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators]
synonym: "Joint contractures of the 2nd finger" EXACT []
xref: UMLS:C4021452
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0012785 ! Flexion contracture of finger
created_by: doelkens
creation_date: 2009-01-21T10:10:27Z

[Term]
id: HP:0009538
name: Contracture of the distal interphalangeal joint of the 2nd finger
def: "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:probinson]
xref: UMLS:C4024302
is_a: HP:0009537 ! Flexion contracture of the 2nd finger
is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers
created_by: doelkens
creation_date: 2009-01-21T10:11:49Z

[Term]
id: HP:0009539
name: Contracture of the metacarpophalangeal joint of the 2nd finger
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators]
xref: UMLS:C4024301
is_a: HP:0009537 ! Flexion contracture of the 2nd finger
created_by: doelkens
creation_date: 2009-01-21T10:11:49Z

[Term]
id: HP:0009540
name: Contracture of the proximal interphalangeal joint of the 2nd finger
def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:probinson]
synonym: "Camptodactyly of 2nd finger" EXACT []
synonym: "Camptodactyly of index finger" EXACT []
synonym: "Camptodactyly of second finger" EXACT []
xref: UMLS:C4021451
is_a: HP:0009537 ! Flexion contracture of the 2nd finger
is_a: HP:0100490 ! Camptodactyly of finger
created_by: doelkens
creation_date: 2009-01-21T10:11:49Z

[Term]
id: HP:0009541
name: Abnormality of the phalanges of the 2nd finger
alt_id: HP:0004105
def: "Abnormality of the phalanges of the 2nd (index) finger." [HPO:curators]
synonym: "Abnormal index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of 2nd finger phalanges" EXACT []
xref: UMLS:C4021450
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-21T10:15:07Z

[Term]
id: HP:0009542
name: Abnormality of the distal phalanx of the 2nd finger
alt_id: HP:0004111
alt_id: HP:0004140
synonym: "Abnormality of terminal index finger phalanx" EXACT []
synonym: "Abnormality of the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021449
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
created_by: doelkens
creation_date: 2009-01-21T10:17:15Z

[Term]
id: HP:0009543
name: Abnormality of the middle phalanx of the 2nd finger
alt_id: HP:0004131
synonym: "Abnormal middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of middle 2nd finger phalanx" EXACT []
xref: UMLS:C4021448
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
created_by: doelkens
creation_date: 2009-01-21T10:17:15Z

[Term]
id: HP:0009544
name: Abnormality of the proximal phalanx of the 2nd finger
alt_id: HP:0004119
synonym: "Abnormal innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the proximal 2nd finger phalanx" EXACT []
xref: UMLS:C4021447
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
created_by: doelkens
creation_date: 2009-01-21T10:17:15Z

[Term]
id: HP:0009545
name: Symphalangism of the 2nd finger
alt_id: HP:0004116
synonym: "Fused index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of index finger phalanges" EXACT []
xref: UMLS:C4021446
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009700 ! Finger symphalangism
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-21T10:19:34Z

[Term]
id: HP:0009546
name: Triangular shaped phalanges of the 2nd finger
alt_id: HP:0004117
def: "Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular bones of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular index finger phalanges" EXACT []
xref: UMLS:C4021445
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
created_by: doelkens
creation_date: 2009-01-21T10:19:34Z

[Term]
id: HP:0009547
name: Broad phalanges of the 2nd finger
alt_id: HP:0004118
synonym: "Wide index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide/broad index finger phalanges" EXACT []
xref: UMLS:C4021444
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009768 ! Broad phalanges of the hand
created_by: doelkens
creation_date: 2009-01-21T10:19:34Z

[Term]
id: HP:0009548
name: Bullet-shaped phalanges of the 2nd finger
def: "A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024300
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009549
name: Curved phalanges of the 2nd finger
synonym: "Curved index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024299
is_a: HP:0004095 ! Curved fingers
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009770 ! Curved phalanges of the hand
created_by: doelkens
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009550
name: Osteolytic defects of the phalanges of the 2nd finger
alt_id: HP:0004114
synonym: "Lytic defect in index finger phalanges" EXACT []
xref: UMLS:C4021443
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009551
name: Patchy sclerosis of 2nd finger phalanx
def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the 2nd finger" EXACT []
synonym: "Uneven increase in bone density in index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021442
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx
created_by: doelkens
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009552
name: Aplasia/Hypoplasia of the phalanges of the 2nd finger
synonym: "Absent/small index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024298
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-21T10:20:26Z

[Term]
id: HP:0009553
name: Abnormality of the hairline
def: "The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair." [HPO:probinson]
synonym: "Abnormality of the hairline" EXACT layperson []
xref: UMLS:C4024297
is_a: HP:0011361 ! Congenital abnormal hair pattern
is_a: HP:0100037 ! Abnormality of the scalp hair
created_by: peter
creation_date: 2009-01-21T05:19:14Z

[Term]
id: HP:0009554
name: Projection of scalp hair onto lateral cheek
def: "An tongue-like extension of hair towards the cheeks." [HPO:curators]
synonym: "Hair growing down to cheek" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Projection of scalp hair onto lateral cheek" EXACT layperson []
xref: UMLS:C4024296
is_a: HP:0009553 ! Abnormality of the hairline
created_by: peter
creation_date: 2009-01-21T05:21:54Z

[Term]
id: HP:0009555
name: Hypoplasia of the pharynx
def: "Underdevelopment of the pharynx." [HPO:curators]
synonym: "Decreased diameter of pharynx" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased length of pharynx" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of pharynx" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of pharynx" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of pharynx" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic pharynx" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small pharynx" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of pharynx" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024295
xref: UMLS:C4280396
xref: UMLS:C4280397
xref: UMLS:C4280398
xref: UMLS:C4280399
xref: UMLS:C4280400
is_a: HP:0000600 ! Abnormality of the pharynx
created_by: peter
creation_date: 2009-01-21T05:24:16Z

[Term]
id: HP:0009556
name: Absent tibia
def: "Absence of the tibia." [HPO:probinson]
subset: hposlim_core
synonym: "Absent shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the tibia" EXACT []
xref: UMLS:C3276744
is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia
is_a: HP:0009817 ! Aplasia involving bones of the lower limbs
created_by: peter
creation_date: 2009-01-27T06:09:44Z

[Term]
id: HP:0009557
name: Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
synonym: "Absent/small outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024294
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger
created_by: doelkens
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009558
name: Broad distal phalanx of the 2nd finger
def: "Increased width of the distal phalanx of the 2nd finger." [HPO:curators]
synonym: "Wide outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024293
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009547 ! Broad phalanges of the 2nd finger
is_a: HP:0009836 ! Broad distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009559
name: Bullet-shaped distal phalanx of the 2nd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected." [HPO:curators]
synonym: "Bullet-shaped outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024292
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009560
name: Curved distal phalanx of the 2nd finger
def: "Curved appearance of the distal phalanx of the 2nd finger." [HPO:curators]
synonym: "Curved outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024291
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009549 ! Curved phalanges of the 2nd finger
is_a: HP:0009838 ! Curved distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009561
name: Osteolytic defects of the distal phalanx of the 2nd finger
alt_id: HP:0004108
alt_id: HP:0004142
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger." [HPO:curators]
synonym: "Acro-osteolysis of index finger" EXACT []
synonym: "Acro-osteolysis of terminal index finger phalanx" EXACT []
synonym: "Osteolytic defects of the outermost bone of the 2nd finger" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021441
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009562
name: Patchy sclerosis of the distal phalanx of the 2nd finger
def: "Uneven (irregular) increase in bone density of the distal phalanx of the second finger." [HPO:probinson]
synonym: "Uneven increase in bone density in the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024290
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100900 ! Sclerosis of the distal phalanx of the 2nd finger
created_by: doelkens
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009563
name: Distal/middle symphalangism of 2nd finger
alt_id: HP:0009567
alt_id: HP:0009578
def: "Fusion of the terminal/distal and middle phalanges of the 2nd finger." [HPO:curators]
synonym: "Fused outermost and middle index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the distal and middle phalanges of the 2nd finger" EXACT []
xref: UMLS:C4021440
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger
created_by: doelkens
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009564
name: Triangular shaped distal phalanx of the 2nd finger
def: "Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024289
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T04:16:02Z

[Term]
id: HP:0009565
name: Aplasia of the distal phalanx of the 2nd finger
alt_id: HP:0004141
alt_id: HP:0005748
synonym: "Absent outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent terminal index finger phalanx" EXACT []
xref: UMLS:C4021439
is_a: HP:0009535 ! Aplasia of the 2nd finger
is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T04:20:22Z

[Term]
id: HP:0009566
name: Short distal phalanx of the 2nd finger
alt_id: HP:0004145
def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger." [HPO:probinson]
synonym: "Hypoplastic terminal index finger phalanx" EXACT []
synonym: "Hypoplastic/small distal phalanx of the 2nd finger" EXACT []
synonym: "Short distal phalanx of the second finger" EXACT []
synonym: "Short outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short terminal index finger phalanx" EXACT []
xref: UMLS:C4021438
is_a: HP:0009536 ! Short 2nd finger
is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
is_a: HP:0009882 ! Short distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-28T04:20:22Z

[Term]
id: HP:0009568
name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
alt_id: HP:0006221
synonym: "Absent/hypoplastic middle phalanx of 2nd finger" EXACT []
synonym: "Absent/small middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypoplastic/aplastic middle phalanx of index finger" EXACT []
xref: UMLS:C1862144
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger
created_by: doelkens
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009569
name: Broad middle phalanx of the 2nd finger
def: "Increased width of the middle phalanx of the second finger." [HPO:sdoelken]
synonym: "Broad middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024288
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009547 ! Broad phalanges of the 2nd finger
is_a: HP:0009844 ! Broad middle phalanx of finger
created_by: doelkens
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009570
name: Bullet-shaped middle phalanx of the 2nd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected." [HPO:curators]
synonym: "Bullet-shaped middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024287
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009571
name: Curved middle phalanx of the 2nd finger
def: "Curved appearance of the middle phalanx of the 2nd finger." [HPO:curators]
synonym: "Curved middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024286
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009549 ! Curved phalanges of the 2nd finger
is_a: HP:0009846 ! Curved middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009572
name: Osteolytic defects of the middle phalanx of the 2nd finger
alt_id: HP:0004134
def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger." [HPO:curators]
synonym: "Lytic defects of middle index finger phalanx" EXACT []
xref: UMLS:C4021437
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009573
name: Patchy sclerosis of the middle phalanx of the 2nd finger
def: "Uneven (irregular) increase in bone density of the middle phalanx of the second finger." [HPO:probinson]
synonym: "Uneven increase in bone density in the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024285
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100904 ! Sclerosis of the middle phalanx of the 2nd finger
created_by: doelkens
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009574
name: Symphalangism of middle phalanx of 2nd finger
def: "Fusion of the middle phalanx of the 2nd finger with another bone." [HPO:curators]
synonym: "Fused middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024284
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009545 ! Symphalangism of the 2nd finger
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
created_by: doelkens
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009575
name: Triangular shaped middle phalanx of the 2nd finger
def: "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular shaped middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024283
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:10:24Z

[Term]
id: HP:0009576
name: Absent middle phalanx of 2nd finger
alt_id: HP:0005760
def: "Absence of the middle phalanx of the index (2nd) finger." [HPO:curators]
synonym: "Absent middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle phalanx of index finger" EXACT []
synonym: "Aplasia of the middle phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021436
is_a: HP:0009535 ! Aplasia of the 2nd finger
is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
created_by: doelkens
creation_date: 2009-01-28T05:15:55Z

[Term]
id: HP:0009577
name: Short middle phalanx of the 2nd finger
alt_id: HP:0004133
def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger." [HPO:sdoelken]
synonym: "Hypoplastic middle index finger phalanx" EXACT []
synonym: "Hypoplastic/small middle phalanx of the 2nd finger" EXACT []
synonym: "Short middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021435
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009536 ! Short 2nd finger
is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
created_by: doelkens
creation_date: 2009-01-28T05:15:55Z

[Term]
id: HP:0009579
name: Proximal/middle symphalangism of the 2nd finger
def: "Fusion of the proximal and middle phalanges of the 2nd finger." [HPO:curators]
synonym: "Fused innermost and middle index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024282
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger
is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger
created_by: doelkens
creation_date: 2009-01-28T05:23:12Z

[Term]
id: HP:0009580
name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
synonym: "Absent/small innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024281
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger
created_by: doelkens
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009581
name: Broad proximal phalanx of the 2nd finger
alt_id: HP:0004126
def: "Increased width of the proximal phalanx of the 2nd finger." [HPO:curators]
synonym: "Wide innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide/broad proximal index finger phalanx" EXACT []
xref: UMLS:C4021434
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009547 ! Broad phalanges of the 2nd finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009582
name: Bullet-shaped proximal phalanx of the 2nd finger
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected." [HPO:curators]
synonym: "Bullet-shaped innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024280
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger
is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009583
name: Curved proximal phalanx of the 2nd finger
def: "Curved appearance of the proximal phalanx of the 2nd finger." [HPO:curators]
synonym: "Curved innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024279
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009549 ! Curved phalanges of the 2nd finger
is_a: HP:0009854 ! Curved proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009584
name: Osteolytic defects of the proximal phalanx of the 2nd finger
alt_id: HP:0004123
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger." [HPO:curators]
synonym: "Lytic defects of proximal index finger phalanx" EXACT []
xref: UMLS:C4021433
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger
is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009585
name: Patchy sclerosis of the proximal phalanx of the 2nd finger
def: "Uneven (irregular) increase in bone density of the proximal phalanx of the second finger." [HPO:probinson]
synonym: "Uneven increase in bone density in innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024278
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx
is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger
is_a: HP:0100908 ! Sclerosis of the proximal phalanx of the 2nd finger
created_by: doelkens
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009586
name: Symphalangism affecting the proximal phalanx of the 2nd finger
def: "Fusion of the proximal phalanx of the 2nd finger with another bone." [HPO:curators]
synonym: "Fused innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024277
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009545 ! Symphalangism of the 2nd finger
is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009587
name: Triangular shaped proximal phalanx of the 2nd finger
alt_id: HP:0004125
def: "Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators]
synonym: "Triangular proximal index finger phalanx" EXACT []
synonym: "Triangular shaped innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021432
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-28T05:26:39Z

[Term]
id: HP:0009588
name: Vestibular Schwannoma
def: "A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [HPO:probinson]
subset: hposlim_core
synonym: "Acoustic Neuroma" EXACT []
synonym: "Vestibular neurilemmoma" EXACT []
synonym: "Vestibular neurinoma" EXACT []
synonym: "Vestibular neurolemmoma" EXACT []
synonym: "Vestibular Schwann cell tumor" EXACT []
xref: MSH:D009464
xref: NCIT:C3269
xref: SNOMEDCT_US:126949007
xref: SNOMEDCT_US:985004
xref: UMLS:C0027859
is_a: HP:0009591 ! Abnormality of the vestibulocochlear nerve
is_a: HP:0040096 ! Neoplasm of the inner ear
is_a: HP:0100008 ! Schwannoma
created_by: peter
creation_date: 2009-01-28T10:37:32Z

[Term]
id: HP:0009589
name: Bilateral vestibular Schwannoma
def: "A bilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators]
synonym: "Bilateral acoustic neuromas" EXACT []
xref: MSH:D016518
xref: UMLS:C1136042
is_a: HP:0009588 ! Vestibular Schwannoma
created_by: peter
creation_date: 2009-01-28T10:39:14Z

[Term]
id: HP:0009590
name: Unilateral vestibular Schwannoma
def: "A unilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators]
xref: UMLS:C1863653
is_a: HP:0009588 ! Vestibular Schwannoma
created_by: peter
creation_date: 2009-01-28T10:40:23Z

[Term]
id: HP:0009591
name: Abnormality of the vestibulocochlear nerve
def: "Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain." [HPO:probinson]
synonym: "Abnormality of the eighth cranial nerve" EXACT []
synonym: "Abnormality of the VIIIth cranial nerve" EXACT []
xref: UMLS:C4021431
is_a: HP:0001291 ! Abnormal cranial nerve morphology
created_by: peter
creation_date: 2009-01-28T10:42:57Z

[Term]
id: HP:0009592
name: Astrocytoma
def: "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma." [HPO:curators]
xref: MSH:D001254
xref: SNOMEDCT_US:38713004
xref: UMLS:C0004114
is_a: HP:0009733 ! Glioma
is_a: HP:0100707 ! Abnormality of the astrocytes
created_by: peter
creation_date: 2009-01-28T10:51:01Z

[Term]
id: HP:0009593
name: Peripheral Schwannoma
def: "The presence of a peripheral schwannoma." [HPO:probinson]
comment: A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells.
xref: UMLS:C4024276
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0100008 ! Schwannoma
created_by: peter
creation_date: 2009-01-28T10:55:58Z

[Term]
id: HP:0009594
name: Retinal hamartoma
def: "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [HPO:probinson]
xref: UMLS:C1863411
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0010568 ! Hamartoma of the eye
created_by: peter
creation_date: 2009-01-28T10:58:47Z

[Term]
id: HP:0009595
name: Occasional neurofibromas
def: "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1." [HPO:curators]
xref: UMLS:C3810474
is_a: HP:0001067 ! Neurofibromas
created_by: peter
creation_date: 2009-01-28T11:12:19Z

[Term]
id: HP:0009596
name: Aplasia of the proximal phalanx of the 2nd finger
def: "Absence of the proximal phalanx of the 2nd finger." [HPO:curators]
synonym: "Absent innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024275
is_a: HP:0009535 ! Aplasia of the 2nd finger
is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T10:19:36Z

[Term]
id: HP:0009597
name: Short proximal phalanx of the 2nd finger
alt_id: HP:0004124
def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger." [HPO:sdoelken]
synonym: "Hypoplastic/small proximal phalanx of the 2nd finger" EXACT []
synonym: "Short proximal index finger phalanx" EXACT []
synonym: "Short proximal phalanx of the second finger" EXACT []
xref: UMLS:C4021430
is_a: HP:0009536 ! Short 2nd finger
is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
is_a: HP:0010241 ! Short proximal phalanx of finger
created_by: doelkens
creation_date: 2009-01-29T10:19:36Z

[Term]
id: HP:0009598
name: Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal
def: "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal." [HPO:curators]
synonym: "Fused innermost bone of index finger with 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024274
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger
is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal
created_by: doelkens
creation_date: 2009-01-29T10:21:45Z

[Term]
id: HP:0009599
name: Abnormality of thumb epiphysis
alt_id: HP:0004074
def: "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal." [HPO:probinson]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
synonym: "Abnormality of end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the epiphyses of the thumb" EXACT []
synonym: "Abnormality of thumb epiphyses" EXACT []
xref: UMLS:C4021429
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T11:46:15Z

[Term]
id: HP:0009600
name: Flexion contracture of thumb
alt_id: HP:0004061
alt_id: HP:0006043
def: "Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson]
synonym: "Contracture of thumb" EXACT []
synonym: "Flexion deformities of thumbs" EXACT []
synonym: "Joint contractures of the thumb" EXACT []
xref: SNOMEDCT_US:239736003
xref: UMLS:C0409346
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0012785 ! Flexion contracture of finger
created_by: doelkens
creation_date: 2009-01-29T01:06:31Z

[Term]
id: HP:0009601
name: Aplasia/Hypoplasia of the thumb
alt_id: HP:0002950
alt_id: HP:0006225
def: "Hypoplastic/small or absent thumb." [HPO:probinson]
synonym: "Absent or hypoplastic thumbs" EXACT []
synonym: "Absent/hypoplastic thumb" EXACT []
synonym: "Absent/hypoplastic thumbs" EXACT []
synonym: "Absent/small thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia/hypoplasia of thumbs" EXACT []
synonym: "Aplastic/hypoplastic thumbs" EXACT []
synonym: "Hypoplastic to aplastic thumbs" EXACT []
synonym: "Hypoplastic/absent thumb" EXACT []
synonym: "Thumb aplasia/hypoplasia" EXACT []
xref: MSH:C536903
xref: UMLS:C3179508
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers
created_by: doelkens
creation_date: 2009-01-29T01:08:24Z

[Term]
id: HP:0009602
name: Abnormality of thumb phalanx
alt_id: HP:0004063
alt_id: HP:0004064
def: "A structural anomaly of one or more phalanges of the thumb." [HPO:probinson]
synonym: "Abnormality of the thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of thumb phalanges" EXACT []
xref: UMLS:C4021428
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T01:10:39Z

[Term]
id: HP:0009603
name: Deviation of the thumb
alt_id: HP:0004062
def: "Displacement of the thumb from its normal position." [HPO:curators]
synonym: "Abnormal thumb placement" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Deviated thumb" EXACT []
synonym: "Displacement of the thumb" EXACT []
xref: UMLS:C3552414
is_a: HP:0001172 ! Abnormal thumb morphology
is_a: HP:0004097 ! Deviation of finger
created_by: doelkens
creation_date: 2009-01-29T01:49:57Z

[Term]
id: HP:0009606
name: Complete duplication of distal phalanx of the thumb
alt_id: HP:0004084
alt_id: HP:0005784
def: "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side." [HPO:curators]
synonym: "Complete duplication of outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Double thumb distal phalanges" EXACT []
synonym: "Duplicated terminal phalanx of thumb" EXACT []
synonym: "Duplication of distal thumb phalanx" EXACT []
synonym: "Duplication of terminal thumb phalanx" EXACT []
xref: UMLS:C4021427
is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb
is_a: HP:0009943 ! Complete duplication of thumb phalanx
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T03:28:16Z

[Term]
id: HP:0009608
name: Complete duplication of proximal phalanx of the thumb
alt_id: HP:0004078
def: "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson]
synonym: "Complete duplication of the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024273
is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb
is_a: HP:0009943 ! Complete duplication of thumb phalanx
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T03:32:28Z

[Term]
id: HP:0009609
name: Duplication of the 1st metacarpal
def: "Partail or complete duplication of the first metacarpal bone." [HPO:probinson]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side.
synonym: "Partial/complete duplication of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the 1st metacarpal" EXACT []
xref: UMLS:C4021426
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
created_by: doelkens
creation_date: 2009-01-29T03:33:31Z

[Term]
id: HP:0009611
name: Bifid distal phalanx of the thumb
alt_id: HP:0004086
alt_id: HP:0005703
alt_id: HP:0005827
alt_id: HP:0006090
def: "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones." [HPO:sdoelken]
synonym: "Bifid distal phalanx of thumb" EXACT []
synonym: "Bifid terminal phalanges of thumbs" EXACT []
synonym: "Incipient distal thumb phalanx duplication" EXACT []
synonym: "Notched outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Notched terminal thumb phalanx" EXACT []
xref: UMLS:C1860162
is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb
is_a: HP:0009944 ! Partial duplication of thumb phalanx
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T03:48:49Z

[Term]
id: HP:0009612
name: Duplication of the distal phalanx of the thumb
def: "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [HPO:sdoelken]
synonym: "Duplication of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the thumb" EXACT []
xref: UMLS:C4021425
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009942 ! Duplication of thumb phalanx
created_by: doelkens
creation_date: 2009-01-29T03:51:43Z

[Term]
id: HP:0009613
name: Duplication of the proximal phalanx of the thumb
def: "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken]
synonym: "Notched innermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanx of the thumb" EXACT []
xref: UMLS:C4021424
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009942 ! Duplication of thumb phalanx
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
created_by: doelkens
creation_date: 2009-01-29T03:59:56Z

[Term]
id: HP:0009614
name: Bifid proximal phalanx of the thumb
def: "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson]
synonym: "Notched thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024272
is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb
is_a: HP:0009944 ! Partial duplication of thumb phalanx
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T04:01:27Z

[Term]
id: HP:0009615
name: Complete duplication of the first metacarpal
def: "Complete duplication of the first metacarpal bone." [HPO:probinson]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated.
synonym: "Complete duplication of the first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024271
is_a: HP:0009609 ! Duplication of the 1st metacarpal
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T04:06:17Z

[Term]
id: HP:0009616
name: Bifid first metacarpal
def: "Partial duplication of the first metacarpal bone." [HPO:probinson]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape.
synonym: "Notched first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "partial duplication of the first metacarpal" EXACT []
xref: UMLS:C4021423
is_a: HP:0009609 ! Duplication of the 1st metacarpal
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T04:06:17Z

[Term]
id: HP:0009617
name: Abnormality of the distal phalanx of the thumb
alt_id: HP:0004081
def: "Any anomaly of the distal phalanx of thumb." [HPO:probinson]
synonym: "Abnormality of terminal thumb phalanx" EXACT []
synonym: "Abnormality of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021422
is_a: HP:0009602 ! Abnormality of thumb phalanx
created_by: doelkens
creation_date: 2009-01-29T04:13:47Z

[Term]
id: HP:0009618
name: Abnormality of the proximal phalanx of the thumb
alt_id: HP:0004076
def: "An anomaly of the shape or form of the proximal phalanx of the thumb." [HPO:curators]
comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="HPO:probinson"}
synonym: "Abnormal innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of proximal thumb phalanx" EXACT []
xref: UMLS:C4021421
is_a: HP:0009602 ! Abnormality of thumb phalanx
created_by: doelkens
creation_date: 2009-01-29T04:13:47Z

[Term]
id: HP:0009620
name: obsolete Radial deviation of the thumb
is_obsolete: true
consider: HP:0009602

[Term]
id: HP:0009621
name: obsolete Ulnar deviation of the thumb
is_obsolete: true
consider: HP:0009602

[Term]
id: HP:0009622
name: Distally placed thumb
alt_id: HP:0005755
def: "Insertion of thumb at a more distal location than normal." [HPO:probinson]
xref: UMLS:C4024270
is_a: HP:0009603 ! Deviation of the thumb
created_by: doelkens
creation_date: 2009-01-29T04:40:23Z

[Term]
id: HP:0009623
name: Proximal placement of thumb
alt_id: HP:0001170
alt_id: HP:0005668
def: "Proximal mislocalization of the thumb." [HPO:probinson, pmid:19125433]
comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly.
subset: hposlim_core
synonym: "Attachment of thumb close to wrist" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Low implantation of the thumb" EXACT []
synonym: "Proximally placed thumbs" EXACT []
xref: UMLS:C1865572
is_a: HP:0009603 ! Deviation of the thumb
created_by: doelkens
creation_date: 2009-01-29T04:40:23Z

[Term]
id: HP:0009624
name: Contractures of the carpometacarpal joint of the thumb
def: "Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint." [HPO:probinson]
xref: UMLS:C4024269
is_a: HP:0009600 ! Flexion contracture of thumb
created_by: doelkens
creation_date: 2009-01-29T04:52:18Z

[Term]
id: HP:0009625
name: Contractures of the metacarpophalangeal joint of the thumb
def: "Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis." [HPO:probinson]
xref: UMLS:C2108151
is_a: HP:0009600 ! Flexion contracture of thumb
created_by: doelkens
creation_date: 2009-01-29T04:52:18Z

[Term]
id: HP:0009626
name: Contractures of the interphalangeal joint of the thumb
alt_id: HP:0005697
def: "Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis." [HPO:probinson]
synonym: "Interphalangeal extension contractures of thumbs" EXACT []
xref: UMLS:C2108146
is_a: HP:0001220 ! Interphalangeal joint contracture of finger
is_a: HP:0009600 ! Flexion contracture of thumb
created_by: doelkens
creation_date: 2009-01-29T04:52:18Z

[Term]
id: HP:0009629
name: Aplasia/Hypoplasia of the proximal phalanx of the thumb
def: "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Absent/small innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024268
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb
created_by: doelkens
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009630
name: Broad proximal phalanx of the thumb
def: "Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Broad innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024267
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009844 ! Broad middle phalanx of finger
is_a: HP:0009852 ! Broad proximal phalanges of the hand
is_a: HP:0011304 ! Broad thumb
created_by: doelkens
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009631
name: Bullet-shaped proximal phalanx of the thumb
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected." [HPO:probinson]
synonym: "Bullet-shaped innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024266
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009652 ! Bullet-shaped thumb phalanx
is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009632
name: Curved proximal phalanx of the thumb
def: "A deviation from the normal straight shape of the proximal phalanx of the thumb." [HPO:probinson]
synonym: "Curved innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024265
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009653 ! Curved thumb phalanx
is_a: HP:0009846 ! Curved middle phalanges of the hand
is_a: HP:0009854 ! Curved proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009633
name: Osteolytic defect of the proximal phalanx of the thumb
def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb." [HPO:probinson]
synonym: "Osteolytic defects of the proximal phalanx of the thumb" EXACT []
xref: UMLS:C4021420
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009654 ! Osteolytic defect of thumb phalanx
is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009634
name: Patchy sclerosis of the proximal phalanx of the thumb
def: "An uneven increase in bone density of the proximal phalanx of the thumb." [HPO:probinson]
synonym: "Uneven increase in bone density in the innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024264
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx
is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger
is_a: HP:0100913 ! Sclerosis of the proximal phalanx of the thumb
created_by: doelkens
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009635
name: Synostosis of thumb phalanx
def: "Fusion of a phalanx of the thumb with another bone." [HPO:probinson]
synonym: "Fusion of thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024263
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009849 ! Symphalangism of middle phalanx of finger
created_by: doelkens
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009636
name: Triangular shaped proximal phalanx of the thumb
alt_id: HP:0004080
def: "Triangular shaped proximal phalanx of the thumb." [HPO:probinson]
synonym: "Triangular innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular proximal thumb phalanx" EXACT []
xref: UMLS:C4021419
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0009657 ! Triangular shaped thumb phalanx
is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand
is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:09:41Z

[Term]
id: HP:0009637
name: Absent proximal phalanx of thumb
alt_id: HP:0004077
def: "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson]
synonym: "Absent innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent ossification/absent proximal thumb phalanx" EXACT []
synonym: "Aplasia of the proximal phalanx of the thumb" EXACT []
xref: UMLS:C4021418
is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb
is_a: HP:0009659 ! Partial absence of thumb
is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand
created_by: doelkens
creation_date: 2009-01-29T05:11:02Z

[Term]
id: HP:0009638
name: Short proximal phalanx of thumb
alt_id: HP:0004079
alt_id: HP:0006073
def: "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson]
synonym: "Hypoplastic/small proximal phalanx of the thumb" EXACT []
synonym: "Short proximal phalanges of thumb" EXACT []
synonym: "Short proximal thumb bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Short proximal thumb phalanx" EXACT []
xref: UMLS:C1855091
is_a: HP:0005819 ! Short middle phalanx of finger
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb
is_a: HP:0009660 ! Short phalanx of the thumb
created_by: doelkens
creation_date: 2009-01-29T05:11:02Z

[Term]
id: HP:0009640
name: Synostosis of the proximal phalanx of the thumb with the 1st metacarpal
def: "Fusion of the proximal phalanx of the thumb with the 1st metacarpal." [HPO:probinson]
synonym: "Fusion of the innermost bone of the thumb with the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024262
is_a: HP:0005880 ! Metacarpophalangeal synostosis
is_a: HP:0006152 ! Proximal symphalangism of hands
is_a: HP:0009635 ! Synostosis of thumb phalanx
is_a: HP:0009703 ! Synostosis involving the 1st metacarpal
created_by: doelkens
creation_date: 2009-01-29T05:17:08Z

[Term]
id: HP:0009641
name: Aplasia/Hypoplasia of the distal phalanx of the thumb
synonym: "Absent/small outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024261
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
created_by: doelkens
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009642
name: Broad distal phalanx of the thumb
alt_id: HP:0004088
alt_id: HP:0006198
def: "Increased width of the distal phalanx of thumb." [HPO:sdoelken]
synonym: "Broad outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad terminal thumb phalanx" EXACT []
synonym: "Wide distal phalanx of thumb" EXACT []
synonym: "Wide outermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1863402
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009836 ! Broad distal phalanx of finger
is_a: HP:0011304 ! Broad thumb
created_by: doelkens
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009643
name: Bullet-shaped distal phalanx of the thumb
def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected." [HPO:probinson]
synonym: "Bullet-shaped outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024260
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009652 ! Bullet-shaped thumb phalanx
is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009644
name: Curved distal phalanx of the thumb
def: "A deviation from the normal straight shape of the distal phalanx of the thumb." [HPO:probinson]
synonym: "Curved outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024259
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009653 ! Curved thumb phalanx
is_a: HP:0009838 ! Curved distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009645
name: Osteolytic defect of the distal phalanx of the thumb
def: "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb." [HPO:probinson]
synonym: "Osteolytic defects of the distal phalanx of the thumb" EXACT []
synonym: "Osteolytic defects of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021417
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009654 ! Osteolytic defect of thumb phalanx
is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009646
name: Patchy sclerosis of the distal phalanx of the thumb
def: "An uneven increase in bone density of the distal phalanx of the thumb." [HPO:probinson]
synonym: "Uneven increase in bone density in the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024258
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx
is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger
is_a: HP:0100912 ! Sclerosis of the distal phalanx of the thumb
created_by: doelkens
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009648
name: Triangular shaped distal phalanx of the thumb
def: "Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:probinson]
synonym: "Triangular shaped outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024257
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009657 ! Triangular shaped thumb phalanx
is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:19:33Z

[Term]
id: HP:0009649
name: Aplasia of the distal phalanx of the thumb
alt_id: HP:0004082
def: "Absence of the distal/terminal phalanx of the thumb." [HPO:curators]
synonym: "Absence of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent ossification/absent terminal thumb phalanx" EXACT []
synonym: "Aplasia of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021416
is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb
is_a: HP:0009659 ! Partial absence of thumb
is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:22:06Z

[Term]
id: HP:0009650
name: Short distal phalanx of the thumb
alt_id: HP:0004085
alt_id: HP:0004087
def: "Hypoplastic (short) distal phalanx of the thumb." [HPO:sdoelken]
synonym: "Hypoplastic terminal thumb phalanx" EXACT []
synonym: "Hypoplastic/small distal phalanx of the thumb" EXACT []
synonym: "Short outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short terminal thumb phalanx" EXACT []
synonym: "Short thumb terminal phalanx" EXACT []
synonym: "Small terminal thumb phalanx" EXACT []
xref: UMLS:C1862313
is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb
is_a: HP:0009660 ! Short phalanx of the thumb
is_a: HP:0009882 ! Short distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-29T05:22:06Z

[Term]
id: HP:0009652
name: Bullet-shaped thumb phalanx
def: "An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped phalanges of the thumb" EXACT []
synonym: "Bullet-shaped thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021415
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009653
name: Curved thumb phalanx
def: "A deviation from the normal straight shape of a thumb phalanx." [HPO:probinson]
synonym: "Curved phalanges of the thumb" EXACT []
synonym: "Curved thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021414
is_a: HP:0004095 ! Curved fingers
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009770 ! Curved phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009654
name: Osteolytic defect of thumb phalanx
def: "Dissolution or degeneration of bone tissue of one or more phalanges of the thumb." [HPO:probinson]
comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness').
synonym: "Osteolytic defects of the phalanges of the thumb" EXACT []
xref: UMLS:C4020905
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009655
name: Patchy sclerosis of thumb phalanx
def: "An uneven increase in bone density of one or more of the phalanges of the thumb." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the thumb" EXACT []
synonym: "Uneven increase in bone density in thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021413
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100922 ! Sclerosis of thumb phalanx
created_by: doelkens
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009656
name: Symphalangism of the thumb
alt_id: HP:0004068
alt_id: HP:0009639
alt_id: HP:0009647
def: "Congenital fusion (ankylosis) of the interphalangeal joint of the thumb." [HPO:probinson, pmid:22379556]
comment: Symphalangism is caused by a failure of segmentation that occurs during early fetal development.
synonym: "Fused thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused thumb phalanges" EXACT []
synonym: "Symphalangism of the distal and proximal phalanges of the thumb" EXACT []
xref: UMLS:C1834032
is_a: HP:0001204 ! Distal symphalangism of hands
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0009635 ! Synostosis of thumb phalanx
created_by: doelkens
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009657
name: Triangular shaped thumb phalanx
alt_id: HP:0004072
def: "Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle." [HPO:probinson]
comment: A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above).
synonym: "Triangular shaped phalanges of the thumb" EXACT []
synonym: "Triangular shaped thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular thumb phalanges" EXACT []
xref: UMLS:C4021412
is_a: HP:0009602 ! Abnormality of thumb phalanx
created_by: doelkens
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009658
name: Aplasia/Hypoplasia of the phalanges of the thumb
alt_id: HP:0005834
synonym: "Absent/small thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024256
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:29:26Z

[Term]
id: HP:0009659
name: Partial absence of thumb
alt_id: HP:0004065
def: "The absence of a phalangeal segment of a thumb." [pmid:probinson]
synonym: "Aplasia of the phalanges of the thumb" RELATED []
synonym: "Partial absence of thumb" EXACT layperson []
xref: UMLS:C4020780
xref: UMLS:C4024255
is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb
is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb
created_by: doelkens
creation_date: 2009-01-29T05:35:50Z

[Term]
id: HP:0009660
name: Short phalanx of the thumb
alt_id: HP:0004069
alt_id: HP:0004071
def: "Hypoplastic (short) thumb phalanx." [HPO:probinson]
synonym: "Hypoplastic thumb phalanges" EXACT []
synonym: "Hypoplastic/small phalanges of the thumb" EXACT []
synonym: "Short thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short thumb phalanges" EXACT []
xref: UMLS:C4021411
is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb
is_a: HP:0009778 ! Short thumb
created_by: doelkens
creation_date: 2009-01-29T05:35:50Z

[Term]
id: HP:0009662
name: Abnormality of the epiphysis of the distal phalanx of the thumb
alt_id: HP:0004089
def: "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx." [HPO:curators]
synonym: "Abnormality of terminal thumb epiphysis" EXACT []
synonym: "Abnormality of the end part of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021410
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-01-29T05:49:31Z

[Term]
id: HP:0009663
name: Abnormality of the epiphysis of the proximal phalanx of the thumb
def: "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Abnormality of end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024254
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-29T05:49:31Z

[Term]
id: HP:0009664
name: Absent epiphysis of the proximal phalanx of the thumb
def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Absent end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024253
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009686 ! Absent epiphyses of the thumb
is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009665
name: Bracket epiphysis of the proximal phalanx of the thumb
def: "An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:probinson]
synonym: "Bracket shaped end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024252
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009687 ! Bracket epiphyses of the thumb
is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009666
name: Cone-shaped epiphysis of the proximal phalanx of the thumb
def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Cone-shaped end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024251
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb
is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009667
name: Enlarged epiphysis of the proximal phalanx of the thumb
def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Enlarged end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024250
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009689 ! Enlarged thumb epiphysis
is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009668
name: Fragmentation of the epiphysis of the proximal phalanx of the thumb
def: "Epiphysis of the proximal phalanx of the thumb having multiple bony fragments." [HPO:probinson]
synonym: "Fragmentation of end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024249
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009690 ! Fragmentation of thumb epiphysis
is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009669
name: Irregular epiphysis of the proximal phalanx of the thumb
def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Irregular end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024248
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009691 ! Irregular thumb epiphysis
is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009670
name: Ivory epiphysis of the proximal phalanx of the thumb
def: "Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson]
synonym: "Increased bone density of end part of the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024247
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009692 ! Ivory epiphysis of the thumb
is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009671
name: Pseudoepiphysis of the proximal phalanx of the thumb
def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb." [HPO:probinson]
xref: UMLS:C4024246
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009693 ! Pseudoepiphysis of the thumb
is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009672
name: Small epiphysis of the proximal phalanx of the thumb
def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms." [HPO:probinson]
synonym: "Small end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024245
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009694 ! Small thumb epiphysis
is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009673
name: Stippling of the epiphysis of the proximal phalanx of the thumb
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson]
synonym: "Speckled calcifications in end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024244
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009695 ! Stippling of thumb epiphysis
is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009674
name: Triangular epiphysis of the proximal phalanx of the thumb
def: "A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Triangular end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024243
is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb
is_a: HP:0009696 ! Triangular epiphyses of the thumb
is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:17:13Z

[Term]
id: HP:0009675
name: Absent epiphysis of the distal phalanx of the thumb
def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb." [HPO:curators]
synonym: "Absent end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024242
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009686 ! Absent epiphyses of the thumb
is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009676
name: Bracket epiphysis of the distal phalanx of the thumb
def: "An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:probinson]
synonym: "Bracket shaped end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024241
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009687 ! Bracket epiphyses of the thumb
is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009677
name: Cone-shaped epiphysis of the distal phalanx of the thumb
alt_id: HP:0004091
def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:probinson]
synonym: "Cone-shaped end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped terminal thumb phalanx epiphysis" EXACT []
xref: UMLS:C4021409
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb
is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009678
name: Enlarged epiphysis of the distal phalanx of the thumb
alt_id: HP:0004092
def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Large terminal thumb phalanx epiphysis" EXACT []
xref: UMLS:C4021408
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009689 ! Enlarged thumb epiphysis
is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009679
name: Fragmentation of the epiphysis of the distal phalanx of the thumb
def: "Epiphysis of the distal phalanx of the thumb having multiple bony fragments." [HPO:probinson]
synonym: "Fragmentation of end part thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024240
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009690 ! Fragmentation of thumb epiphysis
is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009680
name: Irregular epiphysis of the distal phalanx of the thumb
def: "Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb." [HPO:probinson]
synonym: "Irregular end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024239
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009691 ! Irregular thumb epiphysis
is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009681
name: Ivory epiphysis of the distal phalanx of the thumb
def: "Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson]
synonym: "Increased bone density of end part of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024238
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009692 ! Ivory epiphysis of the thumb
is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009682
name: Pseudoepiphysis of the distal phalanx of the thumb
def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb." [HPO:probinson]
synonym: "Pseudoepiphysis of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024237
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009693 ! Pseudoepiphysis of the thumb
is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009683
name: Small epiphysis of the distal phalanx of the thumb
def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [HPO:probinson]
synonym: "Small end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024236
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009694 ! Small thumb epiphysis
is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009684
name: Stippling of the epiphysis of the distal phalanx of the thumb
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb." [HPO:probinson]
synonym: "Speckled calcifications in the end part of the outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024235
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009695 ! Stippling of thumb epiphysis
is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009685
name: Triangular epiphysis of the distal phalanx of the thumb
def: "A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators]
synonym: "Triangular end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular epiphysis of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024234
is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb
is_a: HP:0009696 ! Triangular epiphyses of the thumb
is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:18:09Z

[Term]
id: HP:0009686
name: Absent epiphyses of the thumb
def: "Absence of one or more epiphyses of the thumb." [HPO:curators]
synonym: "Absent end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024233
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009687
name: Bracket epiphyses of the thumb
def: "An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024232
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009688
name: Cone-shaped epiphysis of the thumb
alt_id: HP:0004075
def: "A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:probinson]
synonym: "Cone-shaped end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses of the thumb" EXACT []
synonym: "Cone-shaped thumb epiphyses" EXACT []
xref: UMLS:C4021407
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009689
name: Enlarged thumb epiphysis
def: "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms." [HPO:probinson]
synonym: "Enlarged end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged epiphyses of the thumb" EXACT []
xref: UMLS:C4021406
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009690
name: Fragmentation of thumb epiphysis
def: "Epiphysis of the thumb having multiple bony fragments." [HPO:probinson]
synonym: "Fragmentation of end part of long bone of thumb" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Fragmentation of the epiphyses of the thumb" EXACT []
xref: UMLS:C4021405
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009691
name: Irregular thumb epiphysis
def: "Uneven radiographic opacity of the one or more epiphyses of the thumb." [HPO:probinson]
synonym: "Irregular end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Irregular epiphyses of the thumb" EXACT []
xref: UMLS:C4021404
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009692
name: Ivory epiphysis of the thumb
def: "Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson]
synonym: "Increased bone density of end part of the thumb" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Ivory epiphyses of the thumb" EXACT []
xref: UMLS:C4021403
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0100922 ! Sclerosis of thumb phalanx
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009693
name: Pseudoepiphysis of the thumb
def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb." [HPO:probinson]
synonym: "Pseudoepiphyses of the thumb" EXACT []
xref: UMLS:C3552484
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009694
name: Small thumb epiphysis
def: "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms." [HPO:probinson]
synonym: "Small end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small epiphyses of the thumb" EXACT []
xref: UMLS:C4021402
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009695
name: Stippling of thumb epiphysis
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb." [HPO:probinson]
synonym: "Speckled calcifications in end part of thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stippling of the epiphyses of the thumb" EXACT []
xref: UMLS:C4021401
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009696
name: Triangular epiphyses of the thumb
synonym: "Triangular end part of the thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024231
is_a: HP:0009599 ! Abnormality of thumb epiphysis
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
created_by: doelkens
creation_date: 2009-01-30T09:20:16Z

[Term]
id: HP:0009697
name: Contracture of the distal interphalangeal joint of the fingers
def: "Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers." [HPO:probinson]
xref: UMLS:C4024230
is_a: HP:0001220 ! Interphalangeal joint contracture of finger
created_by: doelkens
creation_date: 2009-01-30T04:01:28Z

[Term]
id: HP:0009699
name: Osteolytic defects of the hand bones
alt_id: HP:0004282
alt_id: HP:0006082
synonym: "Lytic defects of hand bones" EXACT []
xref: UMLS:C4021400
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs
created_by: doelkens
creation_date: 2009-01-30T04:08:52Z

[Term]
id: HP:0009700
name: Finger symphalangism
def: "An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \"bony\" Syndactyly." [HPO:sdoelken]
synonym: "Fused finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the hand" EXACT [HPO:curators]
synonym: "Synostosis involving bones of the fingers" EXACT []
xref: UMLS:C4021399
is_a: HP:0004278 ! Synostosis involving bones of the hand
is_a: HP:0100262 ! Synostosis involving digits
created_by: doelkens
creation_date: 2009-01-30T04:12:24Z

[Term]
id: HP:0009701
name: Metacarpal synostosis
alt_id: HP:0005915
alt_id: HP:0006041
def: "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:probinson]
subset: hposlim_core
synonym: "Fused long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Synostosis involving metacarpal bones" EXACT []
synonym: "Synostosis involving the metacarpal bones" EXACT []
xref: UMLS:C4021398
is_a: HP:0004278 ! Synostosis involving bones of the hand
is_a: HP:0005916 ! Abnormal metacarpal morphology
is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals
created_by: doelkens
creation_date: 2009-01-30T04:13:07Z

[Term]
id: HP:0009702
name: Carpal synostosis
alt_id: HP:0001192
alt_id: HP:0005799
def: "Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform)." [HPO:probinson]
subset: hposlim_core
synonym: "Carpal bone fusion" EXACT []
synonym: "Carpal fusion" EXACT []
synonym: "Fused carpal bones" EXACT []
synonym: "Fused wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Synostosis involving the carpal bones" EXACT []
xref: SNOMEDCT_US:253930002
xref: UMLS:C0431863
is_a: HP:0001191 ! Abnormality of the carpal bones
is_a: HP:0004278 ! Synostosis involving bones of the hand
is_a: HP:0100266 ! Synostosis of carpals/tarsals
created_by: doelkens
creation_date: 2009-01-30T04:25:10Z

[Term]
id: HP:0009703
name: Synostosis involving the 1st metacarpal
alt_id: HP:0005614
alt_id: HP:0010032
def: "Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "First metacarpophalangeal joint synostosis" EXACT []
synonym: "Fusion involving 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism affecting the 1st metacarpal" EXACT []
xref: UMLS:C4021397
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
created_by: doelkens
creation_date: 2009-01-30T04:26:41Z

[Term]
id: HP:0009704
name: Chronic CSF lymphocytosis
def: "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter." [HPO:probinson]
synonym: "Chronic cerebrospinal fluid lymphocytosis" EXACT []
xref: UMLS:C4024229
is_a: HP:0200149 ! CSF lymphocytic pleiocytosis
created_by: peter
creation_date: 2009-01-30T06:24:59Z

[Term]
id: HP:0009705
name: Synostosis involving the 2nd metacarpal
synonym: "Fusion involving the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024228
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010010 ! Abnormality of the 2nd metacarpal
created_by: doelkens
creation_date: 2009-01-30T04:32:03Z

[Term]
id: HP:0009706
name: Synostosis involving the 3rd metacarpal
synonym: "Fusion involving the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024227
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010011 ! Abnormality of the 3rd metacarpal
created_by: doelkens
creation_date: 2009-01-30T04:32:03Z

[Term]
id: HP:0009707
name: Synostosis involving the 4th metacarpal
synonym: "Fusion involving the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024226
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010012 ! Abnormality of the 4th metacarpal
created_by: doelkens
creation_date: 2009-01-30T04:32:03Z

[Term]
id: HP:0009708
name: Synostosis involving the 5th metacarpal
synonym: "Fusion involving the 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024225
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0010013 ! Abnormality of the 5th metacarpal
created_by: doelkens
creation_date: 2009-01-30T04:32:03Z

[Term]
id: HP:0009709
name: Increased CSF interferon alpha
def: "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)." [HPO:curators]
xref: UMLS:C1856983
is_a: HP:0025454 ! Abnormal CSF metabolite level
created_by: peter
creation_date: 2009-01-30T06:27:06Z

[Term]
id: HP:0009710
name: Chilblains
def: "Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks." [HPO:probinson, PMID:1832531, PMID:22025653]
synonym: "Chilblain lesions" EXACT []
xref: UMLS:C4024224
is_a: HP:0001167 ! Abnormality of finger
created_by: peter
creation_date: 2009-01-30T07:26:24Z

[Term]
id: HP:0009711
name: Retinal capillary hemangioma
def: "A benign vascular tumor of the retina without any neoplastic characteristics." [HPO:probinson]
subset: hposlim_core
synonym: "Retinal hemangioblastoma" EXACT []
xref: NCIT:C3801
xref: SNOMEDCT_US:312935003
xref: UMLS:C0730303
xref: UMLS:C1514915
is_a: HP:0001028 ! Hemangioma
is_a: HP:0009594 ! Retinal hamartoma
is_a: HP:0010797 ! Hemangioblastoma
created_by: peter
creation_date: 2009-01-30T11:08:05Z

[Term]
id: HP:0009713
name: Spinal hemangioblastoma
def: "A 'hemangioblastoma of the spinal cord." [HPO:curators]
xref: NCIT:C3801
xref: UMLS:C4024223
is_a: HP:0010302 ! Spinal cord tumor
is_a: HP:0010797 ! Hemangioblastoma
created_by: peter
creation_date: 2009-01-30T11:24:31Z

[Term]
id: HP:0009714
name: Abnormality of the epididymis
def: "An abnormality of the epididymis." [HPO:probinson]
comment: The epididymis is the structure that connects efferent ductules to vas deferens.
xref: UMLS:C4024222
is_a: HP:0000022 ! Abnormality of male internal genitalia
created_by: peter
creation_date: 2009-01-30T11:44:43Z

[Term]
id: HP:0009715
name: Papillary cystadenoma of the epididymis
alt_id: HP:0030422
def: "A cystadenoma, an epithelial tumor, that originates within the head of the epididymis." [HPO:probinson, pmid:24441657]
comment: Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis.
xref: NCIT:C2974
xref: UMLS:C4024221
is_a: HP:0009714 ! Abnormality of the epididymis
is_a: HP:0030421 ! Epididymal neoplasm
created_by: peter
creation_date: 2009-01-30T11:46:33Z

[Term]
id: HP:0009716
name: Subependymal nodules
def: "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter." [HPO:curators]
xref: UMLS:C1968958
is_a: HP:0002118 ! Abnormality of the cerebral ventricles
is_a: HP:0009731 ! Cerebral hamartoma
created_by: peter
creation_date: 2009-01-30T11:57:28Z

[Term]
id: HP:0009717
name: Cortical tubers
def: "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients." [HPO:curators]
xref: UMLS:C1968959
is_a: HP:0002538 ! Abnormality of the cerebral cortex
is_a: HP:0009731 ! Cerebral hamartoma
created_by: peter
creation_date: 2009-01-31T12:03:16Z

[Term]
id: HP:0009718
name: Subependymal giant-cell astrocytoma
def: "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis." [HPO:curators]
xref: MSH:D001254
xref: SNOMEDCT_US:1586004
xref: SNOMEDCT_US:449799008
xref: UMLS:C0205768
is_a: HP:0009592 ! Astrocytoma
created_by: peter
creation_date: 2009-01-31T12:07:02Z

[Term]
id: HP:0009719
name: Hypomelanotic macule
def: "Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis." [HPO:probinson, pmid:10695583]
comment: While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin.
synonym: "Hypomelanotic macules" EXACT HP:0045078 []
xref: UMLS:C4024220
is_a: HP:0001010 ! Hypopigmentation of the skin
is_a: HP:0020073 ! Hypopigmented macule
created_by: peter
creation_date: 2009-01-31T12:16:52Z

[Term]
id: HP:0009720
name: Adenoma sebaceum
def: "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin." [HPO:probinson]
comment: Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis.
synonym: "Facial angiofibromas" EXACT []
synonym: "Sebaceous adenoma" EXACT []
synonym: "Sebaceous adenomas" RELATED [HPO:skoehler]
xref: MSH:D014402
xref: SNOMEDCT_US:36025004
xref: SNOMEDCT_US:78424008
xref: UMLS:C0265319
xref: UMLS:C1368816
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0010615 ! Angiofibromas
is_a: HP:0011799 ! Abnormality of facial soft tissue
created_by: peter
creation_date: 2009-01-31T12:19:37Z

[Term]
id: HP:0009721
name: Shagreen patch
def: "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather." [HPO:curators, pmid:10695583]
subset: hposlim_core
xref: SNOMEDCT_US:254244007
xref: UMLS:C0432363
is_a: HP:0100898 ! Connective tissue nevi
created_by: peter
creation_date: 2009-01-31T09:36:32Z

[Term]
id: HP:0009722
name: Dental enamel pits
def: "The presence of small depressions in the dental enamel." [HPO:curators]
synonym: "Dental enamel pits" EXACT layperson []
synonym: "Dental enamel pitting" EXACT []
synonym: "Pitting of tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Tooth enamel pits" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1860711
is_a: HP:0000682 ! Abnormality of dental enamel
created_by: peter
creation_date: 2009-01-31T09:44:34Z

[Term]
id: HP:0009723
name: Abnormality of the subungual region
def: "A lesion located beneath a fingernail or toenail." [HPO:curators]
xref: UMLS:C4024219
is_a: HP:0001597 ! Abnormality of the nail
created_by: peter
creation_date: 2009-01-31T09:49:06Z

[Term]
id: HP:0009724
name: Subungual fibromas
def: "The presence of fibromata beneath finger or toenails." [HPO:curators]
synonym: "Subungual fibroma" RELATED []
xref: SNOMEDCT_US:39295002
xref: UMLS:C0266003
is_a: HP:0009723 ! Abnormality of the subungual region
is_a: HP:0010614 ! Fibroma
created_by: peter
creation_date: 2009-01-31T09:49:51Z

[Term]
id: HP:0009725
name: Bladder neoplasm
def: "The presence of a neoplasm of the urinary bladder." [HPO:probinson]
synonym: "Bladder cancer" EXACT []
synonym: "Bladder tumor" RELATED []
xref: MSH:D001749
xref: NCIT:C3262
xref: SNOMEDCT_US:126885006
xref: UMLS:C0005695
is_a: HP:0010786 ! Urinary tract neoplasm
created_by: peter
creation_date: 2009-01-31T10:43:55Z

[Term]
id: HP:0009726
name: Renal neoplasm
alt_id: HP:0005933
def: "The presence of a neoplasm of the kidney." [HPO:probinson]
synonym: "Kidney cancer" BROAD layperson []
synonym: "Neoplasia of the kidneys" EXACT []
synonym: "Renal neoplasia" RELATED []
synonym: "Renal tumors" EXACT layperson []
xref: MSH:D007680
xref: NCIT:C3262
xref: SNOMEDCT_US:126880001
xref: UMLS:C0022665
xref: UMLS:C1378703
is_a: HP:0000077 ! Abnormality of the kidney
is_a: HP:0010786 ! Urinary tract neoplasm
created_by: peter
creation_date: 2009-01-31T10:41:48Z

[Term]
id: HP:0009727
name: Achromatic retinal patches
def: "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina." [HPO:probinson, pmid:11264130]
synonym: "Punched out areas of chorioretinal hypopigmentation" EXACT []
xref: UMLS:C1860710
is_a: HP:0007894 ! Hypopigmentation of the fundus
created_by: peter
creation_date: 2009-01-31T10:49:15Z

[Term]
id: HP:0009728
name: Neoplasm of striated muscle
def: "A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle." [HPO:sdoelken]
synonym: "Tumors of striated muscle" EXACT []
xref: NCIT:C3262
xref: UMLS:C4021396
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: peter
creation_date: 2009-01-31T10:52:25Z

[Term]
id: HP:0009729
name: Cardiac rhabdomyoma
def: "A benign tumor of cardiac striated muscle." [HPO:curators]
xref: UMLS:C1332852
is_a: HP:0009730 ! Rhabdomyoma
is_a: HP:0100544 ! Neoplasm of the heart
created_by: peter
creation_date: 2009-01-31T10:53:11Z

[Term]
id: HP:0009730
name: Rhabdomyoma
def: "A benign tumor of striated muscle." [HPO:probinson]
xref: MSH:D012207
xref: NCIT:C3358
xref: SNOMEDCT_US:302846007
xref: SNOMEDCT_US:402877008
xref: SNOMEDCT_US:43375002
xref: UMLS:C0035411
is_a: HP:0009728 ! Neoplasm of striated muscle
created_by: peter
creation_date: 2009-01-31T10:54:01Z

[Term]
id: HP:0009731
name: Cerebral hamartoma
def: "The presence of a hamartoma of the cerebrum." [HPO:probinson]
comment: Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum.
synonym: "Cerebral hamartomata" EXACT []
xref: UMLS:C4024218
is_a: HP:0010566 ! Hamartoma
is_a: HP:0100835 ! Benign neoplasm of the central nervous system
created_by: peter
creation_date: 2009-01-31T11:02:09Z

[Term]
id: HP:0009732
name: Plexiform neurofibroma
def: "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure." [HPO:curators]
xref: MSH:D018318
xref: SNOMEDCT_US:403818001
xref: SNOMEDCT_US:41252002
xref: UMLS:C0206728
is_a: HP:0001067 ! Neurofibromas
created_by: peter
creation_date: 2009-01-31T11:12:32Z

[Term]
id: HP:0009733
name: Glioma
def: "The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes)." [HPO:probinson]
comment: Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas.
xref: MSH:D005910
xref: NCIT:C3059
xref: SNOMEDCT_US:115240006
xref: SNOMEDCT_US:393564001
xref: SNOMEDCT_US:74532006
xref: UMLS:C0017638
is_a: HP:0030063 ! Neuroepithelial neoplasm
is_a: HP:0100705 ! Abnormality of the glial cells
is_a: HP:0100836 ! Malignant neoplasm of the central nervous system
created_by: peter
creation_date: 2009-01-31T11:15:22Z

[Term]
id: HP:0009734
name: Optic nerve glioma
def: "A glioma originating in the optic nerve or optic chiasm." [HPO:curators]
synonym: "Optic glioma" EXACT []
xref: MSH:D020339
xref: SNOMEDCT_US:254976006
xref: SNOMEDCT_US:404662003
xref: UMLS:C0346326
is_a: HP:0009733 ! Glioma
created_by: peter
creation_date: 2009-01-31T11:17:13Z

[Term]
id: HP:0009735
name: Spinal neurofibromas
alt_id: HP:0007077
def: "Neurofibromas originating in the spine." [HPO:probinson]
comment: Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels.
xref: UMLS:C4024217
is_a: HP:0001067 ! Neurofibromas
created_by: peter
creation_date: 2009-01-31T11:19:24Z

[Term]
id: HP:0009736
name: Tibial pseudoarthrosis
def: "Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life." [HPO:curators]
xref: UMLS:C4024216
is_a: HP:0002992 ! Abnormality of tibia morphology
is_a: HP:0005864 ! Pseudoarthrosis
created_by: peter
creation_date: 2009-01-31T11:22:24Z

[Term]
id: HP:0009737
name: Lisch nodules
def: "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.." [HPO:probinson]
subset: hposlim_core
synonym: "Iris hamartomas" EXACT []
xref: UMLS:C1860334
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0010568 ! Hamartoma of the eye
created_by: peter
creation_date: 2009-01-31T11:45:04Z

[Term]
id: HP:0009738
name: Abnormality of the antihelix
def: "An abnormality of the antihelix." [HPO:probinson]
comment: An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis.
subset: hposlim_core
synonym: "Abnormal antehelix" EXACT []
synonym: "Abnormal anthelix" EXACT []
synonym: "Abnormal antihelix" EXACT []
xref: UMLS:C4021395
is_a: HP:0000377 ! Abnormality of the pinna
created_by: peter
creation_date: 2009-01-31T12:39:37Z

[Term]
id: HP:0009739
name: Hypoplasia of the antihelix
def: "Developmental hypoplasia of the antihelix." [HPO:probinson]
synonym: "Hypoplastic antihelix" EXACT []
xref: UMLS:C4021394
is_a: HP:0009738 ! Abnormality of the antihelix
created_by: peter
creation_date: 2009-01-31T12:41:43Z

[Term]
id: HP:0009740
name: Aplasia of the parotid gland
def: "Absence of the parotid gland." [HPO:curators]
synonym: "Abnormally small parotid gland" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Absence of the parotid gland" RELATED []
synonym: "Hypoplasia of parotid gland" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of parotid gland" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1400252
xref: UMLS:C4020779
xref: UMLS:C4024215
is_a: HP:0000197 ! Abnormal parotid gland morphology
created_by: peter
creation_date: 2009-01-31T12:51:47Z

[Term]
id: HP:0009741
name: Nephrosclerosis
def: "Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [HPO:curators]
synonym: "Scarring of kidney arteries" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Thickening of kidney artiries" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009400
xref: SNOMEDCT_US:32916005
xref: UMLS:C0027719
is_a: HP:0012210 ! Abnormal renal morphology
created_by: peter
creation_date: 2009-01-31T01:15:08Z

[Term]
id: HP:0009742
name: Stiff shoulders
def: "Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity." [HPO:probinson]
synonym: "Stiff shoulders" EXACT layperson []
xref: SNOMEDCT_US:249918006
xref: UMLS:C0241042
is_a: HP:0001387 ! Joint stiffness
is_a: HP:0003043 ! Abnormality of the shoulder
created_by: peter
creation_date: 2009-01-31T02:02:05Z

[Term]
id: HP:0009743
name: Distichiasis
def: "Double rows of eyelashes." [HPO:probinson]
comment: Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes.
subset: hposlim_core
synonym: "Distichiasis of eyelid eyelashes" EXACT []
xref: SNOMEDCT_US:95339000
xref: UMLS:C0423848
is_a: HP:0008496 ! Multiple rows of eyelashes
created_by: peter
creation_date: 2009-01-31T02:07:50Z

[Term]
id: HP:0009744
name: Abnormal spinal dura mater morphology
def: "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord." [HPO:curators]
synonym: "Abnormality of the spinal dura mater" EXACT []
xref: UMLS:C4024214
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
is_a: HP:0010652 ! Abnormal dura mater morphology
created_by: peter
creation_date: 2009-01-31T02:20:51Z

[Term]
id: HP:0009745
name: Spinalarachnoid cyst
def: "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space." [HPO:probinson]
synonym: "Epidural arachnoid cysts of the spinal canal" EXACT []
xref: UMLS:C4021393
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
is_a: HP:0100702 ! Arachnoid cyst
created_by: peter
creation_date: 2009-01-31T02:22:38Z

[Term]
id: HP:0009746
name: Thick nasal septum
def: "Abnormally increased thickness of the nasal septum." [HPO:curators]
synonym: "Broad nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Broad septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick nasal septum" EXACT layperson []
synonym: "Thick septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1844810
is_a: HP:0000419 ! Abnormality of the nasal septum
created_by: peter
creation_date: 2009-01-31T02:44:09Z

[Term]
id: HP:0009747
name: Lumbosacral hirsutism
def: "Abnormally increased hair growth in the lumbosacral region." [HPO:curators]
xref: UMLS:C1851095
is_a: HP:0009889 ! Localized hirsutism
created_by: peter
creation_date: 2009-01-31T03:21:52Z

[Term]
id: HP:0009748
name: Large earlobe
alt_id: HP:0004449
alt_id: HP:0004456
def: "Increased volume of the earlobe, that is, abnormally prominent ear lobules." [HPO:probinson, pmid:19152421]
comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood.
subset: hposlim_core
synonym: "Fleshy earlobe" EXACT layperson []
synonym: "Fleshy earlobes" EXACT layperson []
synonym: "Large earlobe" EXACT layperson []
synonym: "Prominent ear lobes" EXACT layperson []
synonym: "prominent ear lobules" EXACT layperson []
xref: UMLS:C1844573
is_a: HP:0000363 ! Abnormality of earlobe
created_by: peter
creation_date: 2009-01-31T04:02:42Z

[Term]
id: HP:0009751
name: Aplasia of the pectoralis major muscle
def: "Absence of the pectoralis major muscle." [HPO:curators]
synonym: "Absent pectoralis major muscle" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024213
is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia
is_a: HP:0100854 ! Aplasia of the musculature
created_by: peter
creation_date: 2009-01-31T05:18:55Z

[Term]
id: HP:0009752
name: Cleft in skull base
def: "A bony defect in the skull base." [HPO:curators]
synonym: "Cleft in cranial base" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft in skull base" EXACT layperson []
xref: UMLS:C1856027
is_a: HP:0002693 ! Abnormality of the skull base
created_by: peter
creation_date: 2009-01-31T05:45:00Z

[Term]
id: HP:0009754
name: Fibrous syngnathia
def: "Complete or nearly complete soft tissue fusion of the alveolar ridges." [pmid:19125428]
comment: This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae.
subset: hposlim_core
synonym: "Alveolar synechiae" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Fusion of the alveolar ridges" EXACT []
xref: UMLS:C4021392
is_a: HP:0000277 ! Abnormality of the mandible
is_a: HP:0006477 ! Abnormality of the alveolar ridges
created_by: peter
creation_date: 2009-01-31T08:50:29Z

[Term]
id: HP:0009755
name: Ankyloblepharon
def: "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue." [pmid:18125427]
comment: A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos.
subset: hposlim_core
synonym: "Adhesion of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Ankyloblepharon filiforme adnatum" EXACT []
synonym: "Eyelid synechiae" EXACT []
synonym: "Eyelids stuck together" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C536373
xref: SNOMEDCT_US:193953008
xref: SNOMEDCT_US:400952003
xref: UMLS:C0339182
xref: UMLS:C1302999
is_a: HP:0000492 ! Abnormal eyelid morphology
created_by: peter
creation_date: 2009-01-31T08:52:59Z

[Term]
id: HP:0009756
name: Popliteal pterygium
def: "A pterygium (or pterygia) occurring in the popliteal region (the back of the knee)." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C3805420
is_a: HP:0001059 ! Pterygium
created_by: peter
creation_date: 2009-01-31T08:54:18Z

[Term]
id: HP:0009757
name: Intercrural pterygium
def: "A pterygium (or pterygia) in the intercrural (groin) region." [HPO:curators]
xref: UMLS:C3810471
is_a: HP:0001059 ! Pterygium
created_by: peter
creation_date: 2009-01-31T08:58:49Z

[Term]
id: HP:0009758
name: Pyramidal skinfold extending from the base to the top of the nails
def: "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome." [HPO:curators]
xref: UMLS:C4024212
is_a: HP:0001597 ! Abnormality of the nail
created_by: peter
creation_date: 2009-01-31T09:08:49Z

[Term]
id: HP:0009759
name: Neck pterygia
def: "Pterygia affecting the neck." [HPO:curators]
synonym: "Neck pterygium" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849577
is_a: HP:0001059 ! Pterygium
created_by: peter
creation_date: 2009-01-31T10:10:09Z

[Term]
id: HP:0009760
name: Antecubital pterygium
def: "Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric." [HPO:probinson]
subset: hposlim_core
synonym: "Pterygium cubitale" EXACT []
synonym: "Webbed elbow" EXACT []
xref: MSH:C566738
xref: UMLS:C1867439
is_a: HP:0001059 ! Pterygium
created_by: peter
creation_date: 2009-01-31T10:12:24Z

[Term]
id: HP:0009761
name: Anterior clefting of vertebral bodies
def: "Anterior schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson]
xref: UMLS:C1849579
is_a: HP:0008428 ! Vertebral clefting
created_by: peter
creation_date: 2009-01-31T10:40:39Z

[Term]
id: HP:0009762
name: Facial wrinkling
def: "Excessive wrinkling of the skin of the face." [HPO:curators]
synonym: "Facial wrinkling" EXACT layperson []
xref: SNOMEDCT_US:248194004
xref: UMLS:C0262478
is_a: HP:0100678 ! Premature skin wrinkling
created_by: peter
creation_date: 2009-02-01T03:12:09Z

[Term]
id: HP:0009763
name: Limb pain
def: "Chronic pain in the limbs with no clear focal etiology." [HPO:probinson]
synonym: "Limb pain" EXACT layperson []
synonym: "Pain in extremities" RELATED layperson []
xref: SNOMEDCT_US:90834002
xref: UMLS:C0030196
is_a: HP:0011843 ! Abnormality of skeletal physiology
is_a: HP:0012531 ! Pain
created_by: peter
creation_date: 2009-02-01T03:55:10Z

[Term]
id: HP:0009765
name: Low hanging columella
alt_id: HP:0009766
def: "Columella extending inferior to the level of the nasal base, when viewed from the side." [pmid:19152422]
synonym: "Columella extends below the ala nasi" RELATED []
synonym: "Columella, low" EXACT []
synonym: "Columella, low hanging" EXACT []
synonym: "Extension of the columella below the ala nasi" EXACT []
synonym: "Low-hanging columella" EXACT []
synonym: "Prominent columella" RELATED []
synonym: "Rounded columella" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856119
xref: UMLS:C4280395
is_a: HP:0009929 ! Abnormality of the columella
created_by: peter
creation_date: 2009-02-01T11:01:14Z

[Term]
id: HP:0009767
name: Aplasia/Hypoplasia of the phalanges of the hand
alt_id: HP:0006056
alt_id: HP:0006100
alt_id: HP:0009801
def: "Small or missing phalangeal bones of the fingers of the hand." [HPO:probinson]
synonym: "Aplastic/hypoplastic phalanges" EXACT []
synonym: "Aplastic/hypoplastic phalanges of the hand" EXACT []
synonym: "Hypoplastic/absent phalanges" EXACT []
xref: UMLS:C1848670
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009768
name: Broad phalanges of the hand
alt_id: HP:0001246
alt_id: HP:0006260
def: "Increased width of the phalanges of the hand." [HPO:curators]
synonym: "Wide hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Widening of phalanges of the hand" EXACT []
xref: UMLS:C4021391
is_a: HP:0001500 ! Broad finger
is_a: HP:0005918 ! Abnormal finger phalanx morphology
is_a: HP:0006009 ! Broad phalanx
is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs
created_by: doelkens
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009769
name: Bullet-shaped phalanges of the hand
alt_id: HP:0004270
alt_id: HP:0006139
def: "The presence of short and wide phalanges which taper distally (\"bullet shaped\")." [HPO:curators]
synonym: "Bullet-shaped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the hands" EXACT []
synonym: "Conical bullet-shaped distal ends of phalanges" EXACT []
xref: UMLS:C1854952
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009770
name: Curved phalanges of the hand
synonym: "Curved hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024211
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009771
name: Osteolytic defects of the phalanges of the hand
alt_id: HP:0001179
def: "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators]
synonym: "Acro-osteolysis" EXACT []
synonym: "Acroosteolysis" EXACT []
synonym: "Breakdown of small bones of fingers" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D030981
xref: SNOMEDCT_US:27201004
xref: SNOMEDCT_US:63122002
xref: UMLS:C0917990
is_a: HP:0005918 ! Abnormal finger phalanx morphology
is_a: HP:0009699 ! Osteolytic defects of the hand bones
created_by: doelkens
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009772
name: Patchy sclerosis of finger phalanx
alt_id: HP:0006071
def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the hand" EXACT []
synonym: "Phalangeal sclerosis" EXACT []
synonym: "Uneven increase in bone density in finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1857508
is_a: HP:0004286 ! Patchy sclerosis of hand bones
is_a: HP:0005686 ! Patchy osteosclerosis
is_a: HP:0100899 ! Sclerosis of finger phalanx
created_by: doelkens
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009773
name: Symphalangism affecting the phalanges of the hand
alt_id: HP:0006258
def: "Fusion of two or more phalangeal bones of the hand." [HPO:curators]
synonym: "Fused finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Synostosis involving phalanges of the hand" EXACT []
xref: UMLS:C4021390
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009774
name: Triangular shaped phalanges of the hand
alt_id: HP:0006085
alt_id: HP:0009874
synonym: "Delta phalanx/delta-like phalanx" EXACT []
synonym: "Triangular shaped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2673397
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-02-02T11:38:04Z

[Term]
id: HP:0009775
name: Amniotic constriction ring
alt_id: HP:0001078
def: "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands." [HPO:probinson]
comment: Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers.
synonym: "Amniotic bands" EXACT []
synonym: "Amniotic constriction band" RELATED []
synonym: "Pseudoainhum" EXACT []
xref: MSH:C535821
xref: MSH:D000652
xref: SNOMEDCT_US:19988008
xref: SNOMEDCT_US:238879003
xref: UMLS:C0334166
xref: UMLS:C1527388
is_a: HP:0011409 ! Abnormality of placental membranes
created_by: doelkens
creation_date: 2009-02-02T05:36:41Z

[Term]
id: HP:0009776
name: Adactyly
def: "The absence of all phalanges of all the digits of a limb and the associated soft tissues." [pmid:19125433]
comment: This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly.
subset: hposlim_core
synonym: "Absent fingers or toes" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Aphalangy" EXACT []
xref: Fyler:4173
xref: SNOMEDCT_US:275348004
xref: UMLS:C0238591
xref: UMLS:C4280394
is_a: HP:0009380 ! Aplasia of the fingers
is_a: HP:0010760 ! Absent toe
created_by: doelkens
creation_date: 2009-02-02T05:44:39Z

[Term]
id: HP:0009777
name: Absent thumb
alt_id: HP:0001185
alt_id: HP:0002802
alt_id: HP:0009627
def: "Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "Absent thumb" EXACT layperson []
synonym: "Absent thumbs" EXACT layperson []
synonym: "Aplasia of the thumb" EXACT []
synonym: "Thumb aplasia" EXACT []
xref: UMLS:C3278811
is_a: HP:0009380 ! Aplasia of the fingers
is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb
created_by: doelkens
creation_date: 2009-02-02T05:46:42Z

[Term]
id: HP:0009778
name: Short thumb
alt_id: HP:0001183
alt_id: HP:0001186
alt_id: HP:0001589
alt_id: HP:0005699
alt_id: HP:0006151
alt_id: HP:0009628
def: "Hypoplasia (congenital reduction in size) of the thumb." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic thumb" EXACT []
synonym: "Hypoplastic thumbs" EXACT []
synonym: "Hypoplastic/small thumb" EXACT []
synonym: "Short thumb" EXACT layperson []
synonym: "Short thumbs" EXACT layperson []
synonym: "Small thumbs" EXACT layperson []
synonym: "Thumb brachydactyly" EXACT []
synonym: "Thumb hypoplasia" EXACT []
xref: MSH:C536903
xref: SNOMEDCT_US:253936008
xref: UMLS:C0431890
is_a: HP:0009381 ! Short finger
is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb
created_by: doelkens
creation_date: 2009-02-02T05:46:42Z

[Term]
id: HP:0009779
name: 3-4 toe syndactyly
alt_id: HP:0004708
def: "Syndactyly with fusion of toes three and four." [HPO:sdoelken]
synonym: "syndactyly of 3rd - 4th toes" EXACT []
synonym: "Webbed 3rd-4th toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834062
is_a: HP:0001770 ! Toe syndactyly
created_by: peter
creation_date: 2009-02-03T04:43:16Z

[Term]
id: HP:0009780
name: Iliac horns
def: "Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic." [HPO:curators]
xref: SNOMEDCT_US:84308008
xref: UMLS:C0263925
is_a: HP:0003796 ! Irregular iliac crest
created_by: peter
creation_date: 2009-02-03T04:48:00Z

[Term]
id: HP:0009781
name: Lester's sign
def: "A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape." [HPO:probinson]
xref: UMLS:C4024210
is_a: HP:0001100 ! Heterochromia iridis
created_by: peter
creation_date: 2009-02-03T04:50:17Z

[Term]
id: HP:0009782
name: Aplasia/Hypoplasia of the biceps
def: "Absence or underdevelopment of the biceps muscle." [HPO:curators]
synonym: "Absent/small biceps" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped biceps" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024209
is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm
created_by: peter
creation_date: 2009-02-03T04:52:01Z

[Term]
id: HP:0009783
name: Biceps aplasia
def: "Absence of the biceps muscle." [HPO:curators]
synonym: "Absent biceps" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3805764
is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps
is_a: HP:0100854 ! Aplasia of the musculature
created_by: peter
creation_date: 2009-02-03T04:57:47Z

[Term]
id: HP:0009784
name: Aplasia/Hypoplasia of the triceps
def: "Absence or underdevelopment of the triceps muscle." [HPO:curators]
synonym: "Absent/small triceps" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped triceps" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024208
is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm
created_by: peter
creation_date: 2009-02-03T04:58:31Z

[Term]
id: HP:0009785
name: Triceps aplasia
def: "Absence of the triceps muscle." [HPO:curators]
synonym: "Absent triceps" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3810484
is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps
is_a: HP:0100854 ! Aplasia of the musculature
created_by: peter
creation_date: 2009-02-03T05:15:21Z

[Term]
id: HP:0009786
name: Aplasia/Hypoplasia of the musculature of the thigh
def: "Absence or underdevelopment involving the musculature of the thigh." [HPO:curators]
synonym: "Absent/small thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024207
is_a: HP:0001441 ! Abnormality of the musculature of the thigh
is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities
created_by: peter
creation_date: 2009-02-03T05:16:42Z

[Term]
id: HP:0009787
name: Aplasia/Hypoplasia of the quadriceps
def: "Absence or underdevelopment of the quadriceps muscle." [HPO:curators]
synonym: "Absent/small quadriceps" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped quadriceps" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024206
is_a: HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh
created_by: peter
creation_date: 2009-02-03T05:17:40Z

[Term]
id: HP:0009788
name: Quadriceps aplasia
def: "Absence of the quadriceps muscle." [HPO:curators]
synonym: "Absent quads" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3805765
is_a: HP:0009787 ! Aplasia/Hypoplasia of the quadriceps
is_a: HP:0100854 ! Aplasia of the musculature
created_by: peter
creation_date: 2009-02-03T05:18:11Z

[Term]
id: HP:0009789
name: Perianal abscess
def: "The presence of an abscess located around the anus." [HPO:curators]
xref: SNOMEDCT_US:82127005
xref: UMLS:C0031019
is_a: HP:0004378 ! Abnormality of the anus
is_a: HP:0031292 ! Cutaneous abscess
created_by: peter
creation_date: 2009-02-03T05:19:42Z

[Term]
id: HP:0009790
name: Hemisacrum
def: "A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5." [HPO:probinson]
xref: UMLS:C2677632
is_a: HP:0008490 ! Sacral segmentation defect
created_by: peter
creation_date: 2009-02-03T05:21:37Z

[Term]
id: HP:0009791
name: Bifid sacrum
def: "Presence of a bifid sacral bone." [HPO:probinson]
xref: UMLS:C4024204
is_a: HP:0008490 ! Sacral segmentation defect
created_by: peter
creation_date: 2009-02-03T05:22:25Z

[Term]
id: HP:0009792
name: Teratoma
def: "The presence of a teratoma." [HPO:probinson]
comment: Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations.
xref: MSH:D013724
xref: NCIT:C3403
xref: SNOMEDCT_US:55818009
xref: UMLS:C0039538
is_a: HP:0002898 ! Embryonal neoplasm
is_a: HP:0100728 ! Germ cell neoplasia
created_by: peter
creation_date: 2009-02-03T05:23:03Z

[Term]
id: HP:0009793
name: Presacral teratoma
def: "A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV)." [HPO:probinson]
comment: Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx.
synonym: "Altman type IV sacrococcygeal teratoma" EXACT []
synonym: "Retrorectal teratoma" EXACT []
xref: UMLS:C1867782
is_a: HP:0030736 ! Sacrococcygeal teratoma
created_by: peter
creation_date: 2009-02-03T05:23:57Z

[Term]
id: HP:0009794
name: Branchial anomaly
def: "Congenital developmental defect arising from the primitive branchial apparatus." [HPO:sdoelken]
comment: During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck.
subset: hposlim_core
synonym: "Abnormality of branchial apparatus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of branchial arch" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Branchial abnormality" EXACT []
synonym: "Branchial anomalies" EXACT []
xref: UMLS:C1862066
is_a: HP:0000464 ! Abnormality of the neck
created_by: peter
creation_date: 2009-02-11T05:16:20Z

[Term]
id: HP:0009795
name: Branchial fistula
def: "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [HPO:sdoelken]
subset: hposlim_core
synonym: "Branchial cleft fistula" EXACT []
xref: SNOMEDCT_US:204268008
xref: UMLS:C0546968
is_a: HP:0009794 ! Branchial anomaly
created_by: peter
creation_date: 2009-02-11T05:17:12Z

[Term]
id: HP:0009796
name: Branchial cyst
def: "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region." [HPO:sdoelken]
comment: Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear.
synonym: "Branchial cleft cyst" RELATED []
synonym: "Branchial cysts" EXACT []
xref: MSH:D001935
xref: SNOMEDCT_US:42362005
xref: SNOMEDCT_US:59857007
xref: UMLS:C0006131
is_a: HP:0009794 ! Branchial anomaly
created_by: peter
creation_date: 2009-02-11T05:18:08Z

[Term]
id: HP:0009797
name: Cholesteatoma
def: "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear." [HPO:curators]
xref: MSH:D002781
xref: SNOMEDCT_US:363668000
xref: SNOMEDCT_US:575006
xref: UMLS:C0008373
is_a: HP:0008609 ! Morphological abnormality of the middle ear
is_a: HP:0100799 ! Neoplasm of the middle ear
created_by: peter
creation_date: 2009-02-11T05:20:04Z

[Term]
id: HP:0009798
name: Euthyroid goiter
def: "A goiter that is not associated with functional thyroid abnormalities." [HPO:probinson]
xref: MSH:C562732
xref: SNOMEDCT_US:32251000119106
xref: UMLS:C0302859
is_a: HP:0000853 ! Goiter
created_by: peter
creation_date: 2009-02-11T05:21:23Z

[Term]
id: HP:0009799
name: Supernumerary spleens
def: "The presence of two or more accessory spleens." [HPO:curators]
synonym: "Extra spleen" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:10362008
xref: UMLS:C0266631
is_a: HP:0025408 ! Abnormal spleen morphology
created_by: peter
creation_date: 2009-02-11T05:44:01Z

[Term]
id: HP:0009800
name: Maternal diabetes
def: "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [HPO:curators]
synonym: "gestational diabetes" EXACT layperson []
synonym: "Maternal diabetes" EXACT layperson []
synonym: "maternal hyperglycemia" NARROW []
xref: MSH:D016640
xref: SNOMEDCT_US:11687002
xref: UMLS:C0085207
xref: UMLS:C4020778
is_a: HP:0000819 ! Diabetes mellitus
is_a: HP:0002686 ! Prenatal maternal abnormality
created_by: doelkens
creation_date: 2009-02-12T05:44:58Z

[Term]
id: HP:0009802
name: Aplasia of the phalanges of the hand
def: "Absence of one or more of the phalanges of the hand." [HPO:curators]
synonym: "Absent finger bone of the hand" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024203
xref: UMLS:C4280393
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
is_a: HP:0009823 ! Aplasia involving bones of the upper limbs
created_by: doelkens
creation_date: 2009-02-12T05:56:07Z

[Term]
id: HP:0009803
name: Short phalanx of finger
alt_id: HP:0001168
alt_id: HP:0005771
alt_id: HP:0006087
alt_id: HP:0006126
def: "Short (hypoplastic) phalanx of finger, affecting one or more phalanges." [HPO:sdoelken]
synonym: "Hypoplastic phalanges" EXACT []
synonym: "Hypoplastic phalanges of hands" EXACT []
synonym: "Hypoplastic/small phalanges of the hand" EXACT []
synonym: "Phalangeal hypoplasia" EXACT []
synonym: "Rudimentary phalanges" EXACT []
synonym: "Short finger bones" EXACT layperson []
synonym: "Short phalanges" EXACT []
synonym: "Shortened phalanges" EXACT []
xref: UMLS:C0877165
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
created_by: doelkens
creation_date: 2009-02-12T05:57:11Z

[Term]
id: HP:0009804
name: Reduced number of teeth
def: "The presence of a reduced number of teeth as in Hypodontia or as in Anodontia." [HPO:sdoelken]
comment: Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia).
synonym: "Decreased number of teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased tooth count" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of some teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Fewer teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing some teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Reduced number of teeth" EXACT layperson []
synonym: "Tooth agenesis" BROAD []
xref: UMLS:C4024202
xref: UMLS:C4083050
is_a: HP:0006483 ! Abnormal number of teeth
creation_date: 2009-02-14T06:20:53Z

[Term]
id: HP:0009805
name: Low-output congestive heart failure
def: "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes." [HPO:curators]
xref: UMLS:C4024201
is_a: HP:0001635 ! Congestive heart failure
created_by: peter
creation_date: 2009-02-16T11:10:18Z

[Term]
id: HP:0009806
name: Nephrogenic diabetes insipidus
def: "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)." [HPO:curators]
xref: MSH:D018500
xref: SNOMEDCT_US:111395007
xref: UMLS:C0162283
is_a: HP:0000873 ! Diabetes insipidus
created_by: peter
creation_date: 2009-02-16T11:23:28Z

[Term]
id: HP:0009808
name: Anomaly of the upper limb diaphyses
alt_id: HP:0003857
def: "A structural abnormality of a diaphysis of the arm." [UToronto:htrang]
synonym: "Abnormality involving the diaphyses of the upper limbs" EXACT []
synonym: "Abnormality of shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Diaphyseal abnormality of the upper limbs" EXACT []
xref: UMLS:C4021389
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0006504 ! Anomaly of the limb diaphyses
created_by: doelkens
creation_date: 2009-02-23T04:55:36Z

[Term]
id: HP:0009809
name: Abnormality of upper limb metaphysis
alt_id: HP:0003847
def: "An anomaly of one or more metaphyses of the arms." [HPO:probinson]
synonym: "Abnormality of the wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Metaphyseal abnormality of the upper limbs" EXACT []
xref: UMLS:C4021388
is_a: HP:0000944 ! Abnormality of the metaphysis
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: doelkens
creation_date: 2009-02-23T04:55:36Z

[Term]
id: HP:0009810
name: Abnormality of upper limb joint
synonym: "Abnormality of the joints of the upper limbs" EXACT layperson []
synonym: "Abnormality of upper limb joint" EXACT layperson []
xref: UMLS:C4021387
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: doelkens
creation_date: 2009-02-23T04:57:56Z

[Term]
id: HP:0009811
name: Abnormality of the elbow
alt_id: HP:0002966
def: "An anomaly of the joint that connects the upper and the lower arm." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the elbow" EXACT layperson []
synonym: "Abnormality of the elbows" EXACT layperson []
xref: UMLS:C4021386
is_a: HP:0009810 ! Abnormality of upper limb joint
created_by: doelkens
creation_date: 2009-02-23T04:59:43Z

[Term]
id: HP:0009812
name: Amelia involving the upper limbs
def: "Amelia of one or both upper limbs." [HPO:curators]
xref: UMLS:C4024200
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009827 ! Amelia
created_by: doelkens
creation_date: 2009-02-23T05:06:12Z

[Term]
id: HP:0009813
name: Upper limb phocomelia
def: "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:probinson]
xref: SNOMEDCT_US:253926000
xref: UMLS:C0265573
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009829 ! Phocomelia
created_by: doelkens
creation_date: 2009-02-23T05:06:12Z

[Term]
id: HP:0009814
name: Upper limb peromelia
def: "Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation." [HPO:sdoelken]
xref: UMLS:C4024199
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009828 ! Peromelia
created_by: doelkens
creation_date: 2009-02-23T05:06:12Z

[Term]
id: HP:0009815
name: Aplasia/hypoplasia of the extremities
alt_id: HP:0002969
alt_id: HP:0006497
def: "Absence (due to failure to form) or underdevelopment of the extremities." [HPO:probinson]
synonym: "Absent/small extremities" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped extremities" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short or absent limbs" EXACT []
synonym: "Shortened limbs" EXACT []
xref: UMLS:C0239399
is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton
is_a: HP:0040064 ! Abnormality of limbs
created_by: doelkens
creation_date: 2009-02-23T05:06:40Z

[Term]
id: HP:0009816
name: Lower limb undergrowth
alt_id: HP:0003087
alt_id: HP:0005884
alt_id: HP:0006399
def: "Leg shortening because of underdevelopment of one or more bones of the lower extremity." [HPO:probinson]
synonym: "Hypoplasia involving bones of the lower limbs" EXACT []
synonym: "Hypoplasia of the lower limbs" EXACT []
synonym: "Lower limb undergrowth" EXACT layperson []
synonym: "Underdeveloped lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:253959002
xref: UMLS:C0345371
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0009826 ! Limb undergrowth
created_by: doelkens
creation_date: 2009-02-23T05:09:32Z

[Term]
id: HP:0009817
name: Aplasia involving bones of the lower limbs
synonym: "Absent bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024198
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0009825 ! Aplasia involving bones of the extremities
created_by: doelkens
creation_date: 2009-02-23T05:10:03Z

[Term]
id: HP:0009818
name: Amelia involving the lower limbs
def: "Amelia of one or both legs." [HPO:curators]
xref: UMLS:C4024197
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0009827 ! Amelia
created_by: doelkens
creation_date: 2009-02-23T05:11:07Z

[Term]
id: HP:0009819
name: Lower limb phocomelia
def: "Phocomelia affecting only the lower limbs." [HPO:sdoelken]
xref: SNOMEDCT_US:253963009
xref: UMLS:C0265625
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0009829 ! Phocomelia
created_by: doelkens
creation_date: 2009-02-23T05:11:07Z

[Term]
id: HP:0009820
name: Lower limb peromelia
def: "Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation." [HPO:sdoelken]
xref: UMLS:C4024196
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet
is_a: HP:0009828 ! Peromelia
created_by: doelkens
creation_date: 2009-02-23T05:11:07Z

[Term]
id: HP:0009821
name: Forearm undergrowth
alt_id: HP:0003024
alt_id: HP:0003968
alt_id: HP:0006405
def: "Forearm shortening because of underdevelopment of one or more bones of the forearm." [HPO:probinson]
synonym: "Forearm undergrowth" EXACT layperson []
synonym: "Hypoplasia involving forearm bones" EXACT []
synonym: "Short forearm bones" EXACT layperson []
synonym: "Short forearms" EXACT layperson []
synonym: "Shortened forearm" EXACT layperson []
xref: UMLS:C1855299
is_a: HP:0003026 ! Short long bone
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones
is_a: HP:0009824 ! Upper limb undergrowth
is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs
created_by: doelkens
creation_date: 2009-02-23T05:11:42Z

[Term]
id: HP:0009822
name: Aplasia involving forearm bones
synonym: "Absent forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024195
is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones
created_by: doelkens
creation_date: 2009-02-23T05:12:10Z

[Term]
id: HP:0009823
name: Aplasia involving bones of the upper limbs
synonym: "Absent bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024194
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009825 ! Aplasia involving bones of the extremities
created_by: doelkens
creation_date: 2009-02-23T05:13:20Z

[Term]
id: HP:0009824
name: Upper limb undergrowth
alt_id: HP:0003056
alt_id: HP:0006364
def: "Arm shortening because of underdevelopment of one or more bones of the upper extremity." [HPO:probinson]
synonym: "Hypoplasia involving bones of the upper limbs" EXACT []
synonym: "Short arms" EXACT layperson []
synonym: "Shortening of the arms" EXACT layperson []
synonym: "Upper limb undergrowth" EXACT layperson []
xref: UMLS:C1837406
is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs
is_a: HP:0009826 ! Limb undergrowth
created_by: doelkens
creation_date: 2009-02-23T05:13:20Z

[Term]
id: HP:0009825
name: Aplasia involving bones of the extremities
synonym: "Absent bones of the extremities" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024193
is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities
created_by: doelkens
creation_date: 2009-02-23T05:16:44Z

[Term]
id: HP:0009826
name: Limb undergrowth
alt_id: HP:0003058
alt_id: HP:0005049
alt_id: HP:0005057
def: "Limb shortening because of underdevelopment of one or more bones of the extremities." [HPO:probinson]
synonym: "Hypoplasia involving bones of the extremities" EXACT []
synonym: "limb shortening" EXACT layperson []
synonym: "Limb undergrowth" EXACT layperson []
synonym: "Short limb" EXACT layperson []
synonym: "Short limbs" EXACT layperson [HPO:skoehler]
xref: UMLS:C0239399
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
created_by: doelkens
creation_date: 2009-02-23T05:16:44Z

[Term]
id: HP:0009827
name: Amelia
def: "Congenital absence (aplasia) of one or more limbs." [HPO:sdoelken]
subset: hposlim_core
xref: MEDDRA:10001926 "Amelia"
xref: MSH:D004480
xref: SNOMEDCT_US:62588002
xref: UMLS:C0002447
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
created_by: doelkens
creation_date: 2009-02-23T05:17:25Z

[Term]
id: HP:0009828
name: Peromelia
def: "The distal parts of the limbs are missing leading to a stump formation." [HPO:probinson]
xref: UMLS:C4024192
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
created_by: doelkens
creation_date: 2009-02-23T05:17:25Z

[Term]
id: HP:0009829
name: Phocomelia
alt_id: HP:0002994
def: "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:probinson]
subset: hposlim_core
xref: MEDDRA:10034923 "Phocomelia"
xref: MSH:D004480
xref: SNOMEDCT_US:22841008
xref: UMLS:C0031575
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
is_a: HP:0011314 ! Abnormality of long bone morphology
created_by: doelkens
creation_date: 2009-02-23T05:17:25Z

[Term]
id: HP:0009830
name: Peripheral neuropathy
alt_id: HP:0003157
alt_id: HP:0003407
alt_id: HP:0007088
alt_id: HP:0007235
alt_id: HP:0007355
def: "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:sdoelken]
synonym: "Neuropathy" RELATED []
synonym: "Peripheral nerve damage" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Peripheral neuritis" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D010523
xref: SNOMEDCT_US:302226006
xref: SNOMEDCT_US:386033004
xref: SNOMEDCT_US:42658009
xref: UMLS:C0031117
xref: UMLS:C0442874
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
created_by: peter
creation_date: 2009-03-01T07:49:18Z

[Term]
id: HP:0009831
name: Mononeuropathy
def: "A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution." [HPO:probinson]
synonym: "Single damaged nerve" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020422
xref: SNOMEDCT_US:128189008
xref: UMLS:C0494491
is_a: HP:0009830 ! Peripheral neuropathy
created_by: peter
creation_date: 2009-03-01T08:27:29Z

[Term]
id: HP:0009832
name: Abnormal distal phalanx morphology of finger
alt_id: HP:0005919
def: "Any anomaly of distal phalanx of finger." [HPO:probinson]
synonym: "Abnormal terminal phalanges of the hand" EXACT []
synonym: "Abnormality of the distal phalanges of the hand" EXACT []
synonym: "Abnormality of the distal phalanx of finger" EXACT []
synonym: "Abnormality of the outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021385
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-03-11T12:01:39Z

[Term]
id: HP:0009833
name: Abnormal middle phalanx morphology of the hand
def: "An anomaly of middle phalanx of finger." [HPO:probinson]
synonym: "Abnormality of the middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the middle phalanges of the hand" EXACT []
xref: UMLS:C4024191
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-03-11T12:01:39Z

[Term]
id: HP:0009834
name: Abnormal proximal phalanx morphology of the hand
synonym: "Abnormality of the innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the proximal phalanges of the hand" EXACT []
xref: UMLS:C4024190
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-03-11T12:01:39Z

[Term]
id: HP:0009835
name: Aplasia/Hypoplasia of the distal phalanges of the hand
alt_id: HP:0005635
alt_id: HP:0006037
alt_id: HP:0006066
alt_id: HP:0006235
def: "Absence or underdevelopment of the distal phalanges." [HPO:curators]
synonym: "Absent/hypoplastic distal phalanges" EXACT []
synonym: "Absent/small outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia/Hypoplasia of the distal phalanges" EXACT []
synonym: "Aplastic/hypoplastic distal phalanges" EXACT []
synonym: "Hypoplastic to absent terminal phalanges" EXACT []
synonym: "Hypoplastic/aplastic distal phalanges" EXACT []
synonym: "Hypoplastic/aplastic distal phalanx" EXACT []
synonym: "Small or absent distal phalanges" RELATED [HPO:skoehler]
xref: UMLS:C1861336
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: doelkens
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009836
name: Broad distal phalanx of finger
alt_id: HP:0003120
alt_id: HP:0006113
alt_id: HP:0006197
alt_id: HP:0006241
alt_id: HP:0009859
def: "Abnormally wide (broad) distal phalanx of finger." [HPO:sdoelken]
synonym: "Broad distal phalanges" EXACT []
synonym: "Broad distal phalanges of the hand" EXACT []
synonym: "Broad distal phalanx" EXACT []
synonym: "Broad outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad terminal phalanges" EXACT []
synonym: "Broad, square ends of distal phalanges" EXACT []
synonym: "Spatulate terminal phalanges" EXACT []
xref: UMLS:C1850630
is_a: HP:0009768 ! Broad phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: doelkens
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009837
name: Bullet-shaped distal phalanges of the hand
alt_id: HP:0009860
def: "Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." []
synonym: "Bullet-shaped outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024189
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: doelkens
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009838
name: Curved distal phalanges of the hand
alt_id: HP:0009862
synonym: "Curved outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024188
is_a: HP:0009770 ! Curved phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: doelkens
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009839
name: Osteolytic defects of the distal phalanges of the hand
alt_id: HP:0001219
alt_id: HP:0009865
synonym: "Acro-osteolysis of distal phalanges" EXACT []
synonym: "Acroosteolysis of distal phalanges" EXACT []
synonym: "Osteolytic defects of the outermost finger bone of the hand" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849547
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: doelkens
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009840
name: Patchy sclerosis of distal phalanx of finger
alt_id: HP:0009868
def: "Uneven (irregular) increase in bone density of the distal phalanges of the hand." [HPO:probinson]
synonym: "Patchy sclerosis of the distal phalanges of the hand" EXACT []
synonym: "Uneven increase in bone density in outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021384
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
created_by: doelkens
creation_date: 2009-03-11T12:10:11Z

[Term]
id: HP:0009843
name: Aplasia/Hypoplasia of the middle phalanges of the hand
alt_id: HP:0005810
alt_id: HP:0006063
alt_id: HP:0006148
synonym: "Absent/hypoplastic middle phalanges" EXACT []
synonym: "Absent/small middle finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia/hypoplasia of middle phalanges" EXACT []
synonym: "Aplastic/hypoplastic middle phalanges" EXACT []
synonym: "Hypoplastic/aplastic middle phalanx" EXACT []
synonym: "Short to absent middle phalanges" EXACT []
synonym: "Short/absent middle phalanges" EXACT []
xref: UMLS:C1862152
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009844
name: Broad middle phalanx of finger
def: "Increased width of the middle phalanx of finger." [HPO:probinson]
synonym: "Broad middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Broad middle phalanges of finger" EXACT []
synonym: "Broad middle phalanges of the hand" EXACT []
xref: UMLS:C4021383
is_a: HP:0009768 ! Broad phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009845
name: Bullet-shaped middle phalanges of the hand
alt_id: HP:0006038
def: "Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4024187
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009846
name: Curved middle phalanges of the hand
alt_id: HP:0009863
synonym: "Curved middle finger bonds of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024186
is_a: HP:0009770 ! Curved phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009847
name: Osteolytic defects of the middle phalanges of the hand
alt_id: HP:0009866
xref: UMLS:C4024185
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009848
name: Patchy sclerosis of middle phalanx of finger
alt_id: HP:0009870
def: "Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand." [HPO:probinson]
synonym: "Patchy sclerosis of the middle phalanges of the hand" EXACT []
synonym: "Uneven increase in bone density in the middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021382
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
created_by: doelkens
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009849
name: Symphalangism of middle phalanx of finger
alt_id: HP:0009872
def: "Fusion of a middle phalanx of a finger with another bone." [HPO:probinson]
synonym: "Fused middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024184
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009850
name: Triangular shaped middle phalanges of the hand
alt_id: HP:0009876
synonym: "Triangular shaped middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024183
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:15:55Z

[Term]
id: HP:0009851
name: Aplasia/Hypoplasia of the proximal phalanges of the hand
synonym: "Absent/small innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024182
is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009852
name: Broad proximal phalanges of the hand
alt_id: HP:0006168
def: "Increased width of the proximal phalanges of the finger." [HPO:probinson]
synonym: "Broad innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024181
is_a: HP:0009768 ! Broad phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009853
name: Bullet-shaped proximal phalanges of the hand
alt_id: HP:0009861
def: "Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators]
synonym: "Bullet-shaped innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024180
is_a: HP:0009769 ! Bullet-shaped phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009854
name: Curved proximal phalanges of the hand
alt_id: HP:0009864
synonym: "Curved innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024179
is_a: HP:0009770 ! Curved phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009855
name: Osteolytic defects of the proximal phalanges of the hand
alt_id: HP:0006050
alt_id: HP:0009867
synonym: "Proximal phalanges osteolysis" EXACT []
xref: UMLS:C1850148
is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009856
name: Patchy sclerosis of proximal phalanx of finger
alt_id: HP:0009869
def: "Uneven increase in bone density of the proximal phalanges of the hand." [HPO:probinson]
synonym: "Patchy sclerosis of the proximal phalanges of the hand" EXACT []
synonym: "Uneven increase in bone density in innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021381
is_a: HP:0009772 ! Patchy sclerosis of finger phalanx
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx
created_by: doelkens
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009857
name: Symphalangism affecting the proximal phalanges of the hand
alt_id: HP:0009873
synonym: "Fused innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024178
is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009858
name: Triangular shaped proximal phalanges of the hand
alt_id: HP:0009877
synonym: "Triangular shaped innermost finger bone" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024177
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-03-11T12:16:33Z

[Term]
id: HP:0009875
name: Triangular shaped distal phalanges of the hand
alt_id: HP:0006061
alt_id: HP:0009842
synonym: "Triangular shaped outermost bone of the hand" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024176
is_a: HP:0009774 ! Triangular shaped phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: doelkens
creation_date: 2009-03-11T01:53:07Z

[Term]
id: HP:0009878
name: Cerebellar ataxia associated with quadrupedal gait
def: "The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight)." [HPO:curators]
xref: UMLS:C4024175
is_a: HP:0001251 ! Ataxia
is_a: HP:0001288 ! Gait disturbance
creation_date: 2009-03-28T05:22:45Z

[Term]
id: HP:0009879
name: Simplified gyral pattern
def: "An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly." [COST:neuromig, HPO:probinson, PMID:22427329]
synonym: "Cortical gyral simplification" EXACT [HPO:skoehler]
xref: UMLS:C2749675
is_a: HP:0002536 ! Abnormal cortical gyration
creation_date: 2009-03-28T06:23:59Z

[Term]
id: HP:0009880
name: Broad distal phalanges of all fingers
alt_id: HP:0005816
def: "Abnormally wide (broad) distal phalanx of finger of all fingers." [HPO:probinson]
synonym: "Broad outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024174
is_a: HP:0009836 ! Broad distal phalanx of finger
created_by: doelkens
creation_date: 2009-04-24T04:18:59Z

[Term]
id: HP:0009881
name: Aplasia of the distal phalanges of the hand
synonym: "Absent distal phalanges of the hand" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Absent outermost hand bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of outermost hand bone" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024173
is_a: HP:0009380 ! Aplasia of the fingers
is_a: HP:0009802 ! Aplasia of the phalanges of the hand
is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-04-24T04:29:30Z

[Term]
id: HP:0009882
name: Short distal phalanx of finger
alt_id: HP:0001198
alt_id: HP:0001202
alt_id: HP:0001221
alt_id: HP:0001229
alt_id: HP:0005669
alt_id: HP:0006075
alt_id: HP:0006076
alt_id: HP:0006132
alt_id: HP:0006199
alt_id: HP:0006223
def: "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger." [HPO:probinson, pmid:19125433]
comment: This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint.
subset: hposlim_core
synonym: "Brachytelophalangy" EXACT []
synonym: "Distal phalangeal hypoplasia" EXACT []
synonym: "Hypoplasia of the distal phalanges" EXACT []
synonym: "Hypoplasia of the distal phalanges of the hand" EXACT []
synonym: "Hypoplasic terminal phalanges" EXACT []
synonym: "Hypoplastic distal phalanges" EXACT []
synonym: "Hypoplastic terminal phalanges" EXACT []
synonym: "Short distal phalanges" EXACT []
synonym: "Short outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Terminal phalangeal hypoplasia of hand" EXACT []
xref: UMLS:C1839829
is_a: HP:0009381 ! Short finger
is_a: HP:0009803 ! Short phalanx of finger
is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-04-24T04:29:30Z

[Term]
id: HP:0009883
name: Duplication of the distal phalanx of hand
alt_id: HP:0001228
alt_id: HP:0010007
def: "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken]
synonym: "Bifid terminal phalanges" EXACT []
synonym: "Duplication of the outermost bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Notched outermost bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanges of the hand" EXACT []
xref: UMLS:C1849343
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
is_a: HP:0009997 ! Duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-04-24T04:33:55Z

[Term]
id: HP:0009884
name: Tapered distal phalanges of finger
alt_id: HP:0006052
def: "A reduction in diameter of the distal phalanx of finger towards the distal end." [HPO:probinson]
synonym: "Tapered distal phalanges" EXACT []
synonym: "Tapered distal phalanges of the hand" EXACT []
synonym: "Tapered outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1969237
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: doelkens
creation_date: 2009-04-24T04:40:31Z

[Term]
id: HP:0009885
name: obsolete Prenatal short stature
is_obsolete: true
consider: HP:0001511

[Term]
id: HP:0009886
name: Trichorrhexis nodosa
def: "Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair." [HPO:curators]
xref: SNOMEDCT_US:22486004
xref: SNOMEDCT_US:238736006
xref: UMLS:C0263485
is_a: HP:0003328 ! Abnormal hair laboratory examination
created_by: peter
creation_date: 2009-04-30T05:51:57Z

[Term]
id: HP:0009887
name: Abnormality of hair pigmentation
def: "An abnormality of hair pigmentation (color)." [HPO:curators]
synonym: "Abnormality of hair color" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of hair pigmentation" EXACT layperson []
xref: UMLS:C4024172
is_a: HP:0001595 ! Abnormal hair morphology
created_by: peter
creation_date: 2009-04-30T06:00:53Z

[Term]
id: HP:0009888
name: Abnormality of secondary sexual hair
def: "Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair." [HPO:curators]
synonym: "Abnormality of secondary sexual hair" EXACT layperson []
xref: UMLS:C4024171
is_a: HP:0001595 ! Abnormal hair morphology
created_by: peter
creation_date: 2009-04-30T06:18:33Z

[Term]
id: HP:0009889
name: Localized hirsutism
def: "Abnormally increased hair growth with a localized distribution." [HPO:curators]
synonym: "Localized abnormal hair growth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024170
is_a: HP:0001007 ! Hirsutism
created_by: peter
creation_date: 2009-04-30T06:29:20Z

[Term]
id: HP:0009890
name: High anterior hairline
def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella." [pmid:19125436]
comment: This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead.
subset: hposlim_core
synonym: "High frontal hairline" EXACT layperson []
xref: UMLS:C3276036
is_a: HP:0000599 ! Abnormality of the frontal hairline
created_by: peter
creation_date: 2009-04-30T06:34:27Z

[Term]
id: HP:0009891
name: Underdeveloped supraorbital ridges
alt_id: HP:0004667
alt_id: HP:0004672
alt_id: HP:0005337
def: "Flatness of the supraorbital portion of the frontal bones." [HPO:curators, pmid:19125436]
subset: hposlim_core
synonym: "Depressed supraorbital margins" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Depressed supraorbital ridge" EXACT []
synonym: "Flat supraorbital margins" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flat supraorbital ridge" EXACT []
synonym: "Flattened bony protrusion above eyes" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Hypoplasia of supraorbital margins" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of the supraorbital ridges" EXACT []
synonym: "Hypoplastic supraorbital ridges" EXACT []
synonym: "Shallow orbital ridges" EXACT []
synonym: "Shallow supraorbital ridge" EXACT []
synonym: "Underdeveloped brows" RELATED layperson []
xref: UMLS:C1861869
xref: UMLS:C4020777
is_a: HP:0100538 ! Abnormality of the supraorbital ridges
created_by: peter
creation_date: 2009-04-30T06:50:09Z

[Term]
id: HP:0009892
name: Anotia
def: "Complete absence of any auricular structures." [HPO:probinson, pmid:19125421]
comment: Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression.
subset: hposlim_core
synonym: "Absent ear" RELATED layperson []
synonym: "Absent ears" RELATED layperson [HPO:skoehler]
synonym: "Congenital absence of external ear" RELATED [HPO:skoehler]
xref: MSH:D065817
xref: SNOMEDCT_US:57436000
xref: UMLS:C0702139
xref: UMLS:C1408788
is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear
created_by: peter
creation_date: 2009-04-30T06:53:41Z

[Term]
id: HP:0009893
name: Telangiectasia of the ear
def: "The presence of telangiectasia of the ear." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4024169
is_a: HP:0000356 ! Abnormality of the outer ear
is_a: HP:0100585 ! Telangiectasia of the skin
created_by: peter
creation_date: 2009-04-30T10:07:39Z

[Term]
id: HP:0009894
name: Thickened ears
def: "Increased thickness of the external ear." []
subset: hposlim_core
synonym: "Thickened ears" EXACT layperson []
xref: UMLS:C4024168
is_a: HP:0000377 ! Abnormality of the pinna
created_by: peter
creation_date: 2009-04-30T10:09:17Z

[Term]
id: HP:0009895
name: Abnormality of the crus of the helix
def: "An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear." [HPO:probinson]
synonym: "Abnormality of the crus of the ear" EXACT []
xref: UMLS:C4021380
is_a: HP:0011039 ! Abnormality of the helix
is_a: HP:3000022 ! Abnormality of cartilage of external ear
created_by: peter
creation_date: 2009-04-30T10:32:41Z

[Term]
id: HP:0009896
name: Abnormality of the antitragus
def: "An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4024167
is_a: HP:0000377 ! Abnormality of the pinna
created_by: peter
creation_date: 2009-04-30T10:13:21Z

[Term]
id: HP:0009897
name: Horizontal crus of helix
def: "An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly." [HPO:probinson, pmid:19152421]
comment: The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately.
subset: hposlim_core
synonym: "Helix, crus, horizontal" EXACT []
synonym: "Horizontal orientation of the crus of helix" EXACT []
synonym: "Horizontal orientation of the ear crus" EXACT []
xref: UMLS:C4021379
is_a: HP:0009895 ! Abnormality of the crus of the helix
created_by: peter
creation_date: 2009-04-30T10:34:52Z

[Term]
id: HP:0009898
name: Underdeveloped crus of the helix
def: "Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average." [HPO:probinson, pmid:19152421]
subset: hposlim_core
synonym: "Hypoplasia of the crus of the ear" EXACT []
synonym: "Underdeveloped crus of the ear" EXACT []
xref: UMLS:C4021378
is_a: HP:0009895 ! Abnormality of the crus of the helix
created_by: peter
creation_date: 2009-04-30T10:36:43Z

[Term]
id: HP:0009899
name: Prominent crus of helix
def: "The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix." [HPO:probinson, pmid:19152421]
subset: hposlim_core
synonym: "Abnormal prominence of the crus of the ear" EXACT []
synonym: "Helix, crus, prominent" EXACT []
synonym: "Hyperplastic helix crus" EXACT []
synonym: "Hypertrophic helix crus" EXACT []
xref: UMLS:C4021377
is_a: HP:0009895 ! Abnormality of the crus of the helix
created_by: peter
creation_date: 2009-04-30T10:38:06Z

[Term]
id: HP:0009900
name: Unilateral deafness
def: "A unilateral absence of sensory perception of sound." [HPO:probinson]
comment: Deafness affecting only one ear.
synonym: "Deafness in one ear" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Deafness, unilateral" EXACT []
xref: MSH:D046088
xref: SNOMEDCT_US:162342008
xref: UMLS:C2607947
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2009-04-30T10:42:23Z

[Term]
id: HP:0009901
name: Crumpled ear
def: "Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds." [pmid:19152421]
comment: This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth.
subset: hposlim_core
synonym: "Crumpled ear" EXACT layperson []
xref: UMLS:C4024166
is_a: HP:0000377 ! Abnormality of the pinna
created_by: peter
creation_date: 2009-04-30T10:50:28Z

[Term]
id: HP:0009902
name: Cleft helix
def: "A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length." [HPO:probinson, pmid:19152421]
comment: This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix.
subset: hposlim_core
synonym: "Notched helix" EXACT []
synonym: "Notching of the ear helix" EXACT []
xref: UMLS:C4021376
is_a: HP:0011039 ! Abnormality of the helix
created_by: peter
creation_date: 2009-04-30T10:52:45Z

[Term]
id: HP:0009903
name: Conjunctival nodule
def: "Presence of nodules in the conjunctiva of the eye." [HPO:probinson]
subset: hposlim_core
xref: SNOMEDCT_US:428477002
xref: UMLS:C1996949
is_a: HP:0000502 ! Abnormal conjunctiva morphology
created_by: peter
creation_date: 2009-05-02T05:04:15Z

[Term]
id: HP:0009904
name: Prominent ear helix
def: "Abnormally prominent ear helix." [HPO:probinson]
synonym: "Large helix" RELATED []
xref: UMLS:C4020776
xref: UMLS:C4024165
is_a: HP:0011039 ! Abnormality of the helix
created_by: peter
creation_date: 2009-05-01T02:49:39Z

[Term]
id: HP:0009905
name: Thin ear helix
def: "Decreased thickness of the helix of the ear." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4024164
is_a: HP:0011039 ! Abnormality of the helix
created_by: peter
creation_date: 2009-05-01T02:50:35Z

[Term]
id: HP:0009906
name: Aplasia/Hypoplasia of the earlobes
def: "Absence or underdevelopment of the ear lobes." [HPO:curators]
synonym: "Absent/small ear lobes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped ear lobes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1851792
is_a: HP:0000363 ! Abnormality of earlobe
created_by: peter
creation_date: 2009-05-01T02:55:12Z

[Term]
id: HP:0009907
name: Attached earlobe
def: "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward." [pmid:19152421]
comment: The earlobe does not have a dependent portion.
subset: hposlim_core
synonym: "Adherent earlobe" EXACT []
synonym: "Attached earlobe" EXACT layperson []
xref: UMLS:C4021375
is_a: HP:0000363 ! Abnormality of earlobe
created_by: peter
creation_date: 2009-05-01T02:57:50Z

[Term]
id: HP:0009908
name: Anterior creases of earlobe
alt_id: HP:0008604
def: "Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe." [pmid:19152421]
comment: Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately.
subset: hposlim_core
synonym: "Earlobe crease" EXACT layperson []
synonym: "Transverse earlobe creases" EXACT []
xref: UMLS:C1851897
is_a: HP:0000363 ! Abnormality of earlobe
created_by: peter
creation_date: 2009-05-01T03:00:22Z

[Term]
id: HP:0009909
name: Uplifted earlobe
alt_id: HP:0009764
def: "An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly." [HPO:probinson, pmid:19152421]
comment: This finding is characteristic of Mowat-Wilson syndrome.
subset: hposlim_core
synonym: "Fleshy upturned lobules" EXACT []
synonym: "Lobe, uplifted" EXACT layperson []
synonym: "Uplifted earlobe" EXACT layperson []
synonym: "Uplifted earlobes" RELATED layperson [HPO:skoehler]
synonym: "Upturned earlobe" EXACT layperson []
synonym: "Upturned earlobes" RELATED layperson [HPO:skoehler]
xref: UMLS:C1856117
is_a: HP:0000363 ! Abnormality of earlobe
created_by: peter
creation_date: 2009-05-01T03:02:07Z

[Term]
id: HP:0009910
name: Aplasia of the middle ear ossicles
def: "Absence of the middle ear ossicles, malleus, incus, and stapes." [HPO:probinson]
synonym: "Absent middle ear bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle ear ossicles" EXACT []
xref: UMLS:C4021374
is_a: HP:0004452 ! Abnormality of the middle ear ossicles
created_by: peter
creation_date: 2009-05-01T03:26:53Z

[Term]
id: HP:0009911
name: Abnormal temporal bone morphology
def: "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the temporal bone" EXACT []
xref: UMLS:C4024163
is_a: HP:0000929 ! Abnormality of the skull
created_by: peter
creation_date: 2009-05-01T03:33:17Z

[Term]
id: HP:0009912
name: Abnormality of the tragus
def: "An abnormality of the tragus." [HPO:probinson]
comment: The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal.
xref: UMLS:C4024162
is_a: HP:0000377 ! Abnormality of the pinna
created_by: peter
creation_date: 2009-05-01T03:39:56Z

[Term]
id: HP:0009913
name: Aplasia/Hypoplasia of the tragus
def: "Aplasia or developmental hypoplasia of the tragus." [HPO:probinson]
synonym: "Absent/small tragus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped tragus" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024161
is_a: HP:0009912 ! Abnormality of the tragus
created_by: peter
creation_date: 2009-05-01T03:43:12Z

[Term]
id: HP:0009914
name: Cyclopia
def: "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose." [DDD:ncarter]
subset: hposlim_core
synonym: "Cyclops eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Single central eye" EXACT layperson []
xref: MSH:C562573
xref: SNOMEDCT_US:205798005
xref: UMLS:C0266667
is_a: HP:0100886 ! Abnormality of globe location
created_by: peter
creation_date: 2009-05-01T03:52:15Z

[Term]
id: HP:0009915
name: Corneal asymmetry
def: "The presence of a size difference between the left and right cornea." [HPO:probinson]
subset: hposlim_core
synonym: "Asymmetry of the corneas" EXACT layperson []
xref: UMLS:C4021373
is_a: HP:0001120 ! Abnormality of corneal size
created_by: peter
creation_date: 2009-05-02T05:06:20Z

[Term]
id: HP:0009916
name: Anisocoria
def: "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease." [HPO:probinson]
comment: Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris.
subset: hposlim_core
synonym: "Asymmetric pupil sizes" EXACT layperson []
synonym: "Asymmetry of the pupils" EXACT layperson []
synonym: "Unequal pupil dilatation" EXACT []
synonym: "Unequal pupil size" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D015875
xref: SNOMEDCT_US:13045009
xref: UMLS:C0003079
is_a: HP:0000615 ! Abnormal pupil morphology
created_by: peter
creation_date: 2009-05-02T05:46:50Z

[Term]
id: HP:0009917
name: Persistent pupillary membrane
def: "The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil." [HPO:probinson]
comment: The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris.
xref: SNOMEDCT_US:95500008
xref: UMLS:C0344541
is_a: HP:0000615 ! Abnormal pupil morphology
created_by: peter
creation_date: 2009-05-02T05:51:28Z

[Term]
id: HP:0009918
name: Ectopia pupillae
def: "A malposition of the pupil owing to a developmental defect of the iris." [DDD:gblack, HPO:probinson]
subset: hposlim_core
synonym: "Corectopia" EXACT []
synonym: "Displaced pupil" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C536185
xref: SNOMEDCT_US:193523008
xref: SNOMEDCT_US:392461003
xref: UMLS:C1271219
is_a: HP:0000615 ! Abnormal pupil morphology
created_by: peter
creation_date: 2009-05-02T06:01:01Z

[Term]
id: HP:0009919
name: Retinoblastoma
def: "A tumor of the eye originating from cells of the retina." [HPO:curators]
synonym: "Retina tumor" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012175
xref: MSH:D019572
xref: NCIT:C7541
xref: SNOMEDCT_US:127002001
xref: SNOMEDCT_US:19906005
xref: SNOMEDCT_US:370967009
xref: UMLS:C0035335
xref: UMLS:C0524801
is_a: HP:0002898 ! Embryonal neoplasm
is_a: HP:0012777 ! Retinal neoplasm
is_a: HP:0030063 ! Neuroepithelial neoplasm
created_by: peter
creation_date: 2009-05-02T06:23:25Z

[Term]
id: HP:0009920
name: Nevus of Ota
def: "A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera." [PMID:14673306]
synonym: "Congenital melanosis bulbi" EXACT []
synonym: "Naevus fuscoceruleus ophthalmomaxillaris" EXACT HP:0045076 []
synonym: "Nevus fuscoceruleus ophthalmomaxillaris" EXACT []
synonym: "Oculodermal melanocytosis" EXACT []
xref: MSH:D009507
xref: SNOMEDCT_US:254817005
xref: SNOMEDCT_US:414929001
xref: UMLS:C0027961
is_a: HP:0003764 ! Nevus
created_by: peter
creation_date: 2009-05-02T06:26:59Z

[Term]
id: HP:0009921
name: Duane anomaly
alt_id: HP:0001109
def: "A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction" [HPO:probinson]
subset: hposlim_core
synonym: "Globe retraction and deviation on adduction" RELATED []
synonym: "Limited eye motility from Duane anomaly" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Limited eye movement from Duane anomaly" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: MSH:D004370
xref: SNOMEDCT_US:60318001
xref: UMLS:C0013261
xref: UMLS:C1846464
xref: UMLS:C4072873
is_a: HP:0025068 ! Incomitant strabismus
created_by: peter
creation_date: 2009-05-02T06:32:41Z

[Term]
id: HP:0009922
name: Vascular remnant arising from the disc
def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth." [HPO:probinson, PMID:23772130]
synonym: "Persistence of the hyaloid artery" EXACT []
synonym: "Persistent hyaloid artery" EXACT []
xref: UMLS:C4024160
is_a: HP:0007968 ! Remnants of the hyaloid vascular system
created_by: peter
creation_date: 2009-05-02T06:43:07Z

[Term]
id: HP:0009924
name: Aplasia/Hypoplasia involving the nose
def: "Underdevelopment or absence of the nose or parts thereof." [HPO:curators]
synonym: "Decreased nasal size" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of the nose" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic nose" NARROW [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:204519007
xref: SNOMEDCT_US:93278002
xref: UMLS:C0685684
xref: UMLS:C4024159
xref: UMLS:C4280392
is_a: HP:0005105 ! Abnormal nasal morphology
created_by: peter
creation_date: 2009-05-05T06:44:04Z

[Term]
id: HP:0009926
name: Epiphora
alt_id: HP:0001486
def: "Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123, PMID:28003974]
comment: Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system.
subset: hposlim_core
synonym: "Increased lacrimation" EXACT []
synonym: "Increased tears" EXACT layperson []
synonym: "Tearing" EXACT layperson []
synonym: "Watery eyes" EXACT layperson []
xref: MSH:D007766
xref: SNOMEDCT_US:193982009
xref: SNOMEDCT_US:418035005
xref: UMLS:C0152227
is_a: HP:0000632 ! Lacrimation abnormality
created_by: peter
creation_date: 2009-05-02T10:52:28Z

[Term]
id: HP:0009927
name: Aplasia of the nose
def: "Complete absence of all nasal structures." [HPO:probinson]
subset: hposlim_core
synonym: "Absent nose" EXACT layperson []
synonym: "Arrhinia" EXACT []
synonym: "Failure of development of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal underdevelopment" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C537438
xref: SNOMEDCT_US:111317000
xref: UMLS:C0265740
xref: UMLS:C4280391
is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose
created_by: peter
creation_date: 2009-05-05T06:44:57Z

[Term]
id: HP:0009928
name: Thick nasal alae
def: "Increase in bulk of the ala nasi." [pmid:19152422]
subset: hposlim_core
synonym: "Ala nasi, thick" EXACT []
synonym: "Thickening of the alae nasi" EXACT []
xref: UMLS:C1844809
is_a: HP:0000429 ! Abnormality of the nasal alae
created_by: peter
creation_date: 2009-05-05T06:47:43Z

[Term]
id: HP:0009929
name: Abnormality of the columella
def: "An abnormality of the columella." [HPO:curators]
comment: The columella is the fleshy external end of the nasal septum.
synonym: "Anomaly of the columella" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the columella" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the columella" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024158
is_a: HP:0010938 ! Abnormality of the external nose
created_by: peter
creation_date: 2009-05-05T06:51:28Z

[Term]
id: HP:0009930
name: Asymmetry of the nares
def: "Asymmetry or size difference between the left and right nostril." [HPO:probinson]
subset: hposlim_core
synonym: "Asymmetry of nostrils" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked nostrils" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unequal nostril shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unequal nostril size" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven nostril shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven nostril size" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024157
is_a: HP:0005288 ! Abnormality of the nares
created_by: peter
creation_date: 2009-05-05T07:06:20Z

[Term]
id: HP:0009931
name: Enlarged naris
def: "Increased aperture of the nostril." [pmid:19152422]
comment: The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age.
subset: hposlim_core
synonym: "Broad nostril" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Dilated nares" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Dilated nostril" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Enlarged nares" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Enlarged nostril" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased diameter of nares" EXACT []
synonym: "Increased diameter of nostril" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased width of nares" EXACT []
synonym: "Large nares" EXACT []
synonym: "Naris, broad" EXACT []
synonym: "Naris, enlarged" EXACT []
synonym: "Wide nares" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide nostril" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:399353008
xref: UMLS:C0426440
is_a: HP:0005288 ! Abnormality of the nares
creation_date: 2009-05-10T10:30:20Z

[Term]
id: HP:0009932
name: Single naris
def: "The presence of only a single nostril." [pmid:19152422]
comment: The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified.
subset: hposlim_core
synonym: "Mono nostril" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "One nostril" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Single nare" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Single nostril" EXACT layperson []
xref: SNOMEDCT_US:95266003
xref: UMLS:C0685682
is_a: HP:0005288 ! Abnormality of the nares
created_by: peter
creation_date: 2009-05-10T10:33:56Z

[Term]
id: HP:0009933
name: Narrow naris
def: "Slender, slit-like aperture of the nostril." [HPO:probinson]
subset: hposlim_core
synonym: "Collapsed nostrils" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Naris, narrow" EXACT []
synonym: "Naris, slit-like" EXACT []
synonym: "Narrow nares" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Narrow nostrils" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Slit-like nostrils" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small nostrils" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin nares" EXACT []
synonym: "Thin nostrils" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249336003
xref: SNOMEDCT_US:249339005
xref: UMLS:C0426436
xref: UMLS:C0426439
xref: UMLS:C1849366
xref: UMLS:C4280390
is_a: HP:0005288 ! Abnormality of the nares
created_by: peter
creation_date: 2009-05-10T10:35:51Z

[Term]
id: HP:0009934
name: Supernumerary naris
def: "The presence of more than two nostrils." [pmid:19152422]
subset: hposlim_core
synonym: "Accessory nares" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Accessory nostril" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Extra nostril" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Supernumerary nares" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Supernumerary nostrils" EXACT []
xref: UMLS:C4021372
is_a: HP:0005288 ! Abnormality of the nares
created_by: peter
creation_date: 2009-05-10T10:37:41Z

[Term]
id: HP:0009935
name: Aplasia/Hypoplasia of the nasal septum
def: "Absence or underdevelopment of the nasal septum." [HPO:curators]
synonym: "Ageneis of nasal septum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024156
is_a: HP:0000419 ! Abnormality of the nasal septum
is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose
created_by: peter
creation_date: 2009-05-10T10:40:21Z

[Term]
id: HP:0009936
name: Narrow nasal septum
def: "Abnormally narrow nasal septum." [HPO:probinson]
subset: hposlim_core
synonym: "Decreased width of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Narrow nasal septum" EXACT layperson []
synonym: "Narrow septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024155
is_a: HP:0000419 ! Abnormality of the nasal septum
created_by: peter
creation_date: 2009-05-10T10:46:40Z

[Term]
id: HP:0009937
name: Facial hirsutism
def: "Excess facial hair." [HPO:curators]
synonym: "Excessive face hair" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1850041
xref: UMLS:C2128203
is_a: HP:0009889 ! Localized hirsutism
created_by: peter
creation_date: 2009-05-10T10:58:49Z

[Term]
id: HP:0009938
name: Sunken cheeks
def: "Lack or loss of the soft tissues between the zygomata and mandible." [pmid:19125436]
subset: hposlim_core
synonym: "Depressed cheeks" EXACT layperson []
synonym: "Hollow cheeks" EXACT layperson []
synonym: "Sunken cheeks" EXACT layperson []
xref: UMLS:C4024154
is_a: HP:0004426 ! Abnormality of the cheek
created_by: peter
creation_date: 2009-05-10T11:17:18Z

[Term]
id: HP:0009939
name: Mandibular aplasia
def: "Absence of the mandible." [HPO:curators]
synonym: "Absence of lower jaw" EXACT []
synonym: "Absence of lower jaw bone" EXACT []
synonym: "Absence of lower jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of mandible" EXACT []
synonym: "Absent mandible" EXACT []
synonym: "Agenesis of the mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Agnathia" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of the lower jaw bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:91896009
xref: SNOMEDCT_US:91922000
xref: UMLS:C0685775
xref: UMLS:C0685776
xref: UMLS:C4021371
is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible
created_by: peter
creation_date: 2009-05-10T11:27:14Z

[Term]
id: HP:0009940
name: Asymmetry of the mandible
def: "Lack of symmetry between the left and right mandible." [HPO:probinson]
subset: hposlim_core
synonym: "Asymmetry of lower jaw" EXACT layperson []
synonym: "Canted lower jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Canted mandible" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Crooked lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deviation of lower jaw" EXACT []
synonym: "Deviation of mandible" EXACT []
synonym: "Deviation of the lower jaw" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Deviation of the mandible" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Lower jaw shifted to one side" EXACT layperson []
synonym: "Tilted lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Tilted mandible" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Uneven lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven mandible" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:235082006
xref: UMLS:C0399518
xref: UMLS:C4082201
is_a: HP:0000277 ! Abnormality of the mandible
created_by: peter
creation_date: 2009-05-10T11:28:02Z

[Term]
id: HP:0009941
name: Asymmetry of the mouth
def: "The presence of an asymmetric mouth." [HPO:probinson]
subset: hposlim_core
synonym: "Asymmetry of oral cavity" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of the mouth" EXACT layperson []
synonym: "Canted mouth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Crooked mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Tilted mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Uneven mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4024153
is_a: HP:0011338 ! Abnormality of mouth shape
created_by: peter
creation_date: 2009-05-10T11:30:31Z

[Term]
id: HP:0009942
name: Duplication of thumb phalanx
alt_id: HP:0009661
def: "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken]
synonym: "Complete/partial duplication of phalanges of the thumb" EXACT []
synonym: "Duplicated thumb" RELATED []
synonym: "Duplicated thumbs" EXACT [HPO:skoehler]
synonym: "Duplication of phalanx of thumb" EXACT []
xref: UMLS:C4021370
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009997 ! Duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-15T12:51:02Z

[Term]
id: HP:0009943
name: Complete duplication of thumb phalanx
alt_id: HP:0002801
alt_id: HP:0004067
def: "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:probinson]
synonym: "Complete duplication of the phalanges of the thumb" EXACT []
synonym: "Complete duplication of thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Digitalization of thumb" EXACT []
synonym: "Digitalization of thumbs" EXACT []
xref: UMLS:C3554724
is_a: HP:0009942 ! Duplication of thumb phalanx
is_a: HP:0009998 ! Complete duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-15T12:51:35Z

[Term]
id: HP:0009944
name: Partial duplication of thumb phalanx
alt_id: HP:0001244
alt_id: HP:0004070
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:probinson]
synonym: "Bifid thumb" EXACT []
synonym: "Notching of thumb phalanges" EXACT []
synonym: "Partial duplication of the phalanges of the thumb" EXACT []
synonym: "Partial duplication of the thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4082168
is_a: HP:0009942 ! Duplication of thumb phalanx
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
created_by: doelkens
creation_date: 2009-05-15T12:51:57Z

[Term]
id: HP:0009945
name: Duplication of phalanx of 2nd finger
def: "This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:curators]
synonym: "Duplication of the bones of index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of phalanges of the 2nd finger" EXACT []
xref: UMLS:C4021369
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0009946 ! Polydactyly affecting the 2nd finger
created_by: doelkens
creation_date: 2009-05-15T01:00:37Z

[Term]
id: HP:0009946
name: Polydactyly affecting the 2nd finger
synonym: "Extra index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024152
is_a: HP:0004100 ! Abnormal 2nd finger morphology
is_a: HP:0006159 ! Mesoaxial hand polydactyly
created_by: doelkens
creation_date: 2009-05-15T01:01:48Z

[Term]
id: HP:0009947
name: Duplication of the proximal phalanx of the 2nd finger
def: "Partial or complete duplication of the second proximal phalanx of hand." [HPO:probinson]
synonym: "Duplication of the proximal bones of the index finger" EXACT []
synonym: "Partial/complete duplication of the proximal phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021368
is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
created_by: doelkens
creation_date: 2009-05-15T01:58:58Z

[Term]
id: HP:0009948
name: Duplication of the distal phalanx of the 2nd finger
alt_id: HP:0004144
def: "Partial or complete duplication of the distal phalanx of index finger." [HPO:probinson]
synonym: "Partial/complete duplication of the distal phalanx of the 2nd finger" EXACT []
synonym: "Partial/complete duplication of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021367
is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
created_by: doelkens
creation_date: 2009-05-15T01:58:58Z

[Term]
id: HP:0009949
name: Duplication of the middle phalanx of the 2nd finger
def: "Partial or complete duplication of the middle phalanx of index finger." [HPO:probinson]
synonym: "Partial/complete duplication of the middle bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 2nd finger" EXACT []
xref: UMLS:C4021366
is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
created_by: doelkens
creation_date: 2009-05-15T01:58:58Z

[Term]
id: HP:0009950
name: Complete duplication of the distal phalanx of the 2nd finger
def: "Complete duplication of the distal phalanx of index finger." [HPO:probinson]
synonym: "Complete duplication of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024151
is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger
is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-15T02:03:28Z

[Term]
id: HP:0009951
name: Partial duplication of the distal phalanx of the 2nd finger
def: "Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Bifid terminal phalanx of the 2nd finger" EXACT []
synonym: "Notched outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021365
is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger
is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-15T02:03:28Z

[Term]
id: HP:0009952
name: Complete duplication of the middle phalanx of the 2nd finger
def: "Complete duplication of the middle phalanx of index finger." [HPO:probinson]
synonym: "Complete duplication of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024150
is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger
is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-05-15T02:05:27Z

[Term]
id: HP:0009953
name: Partial duplication of the middle phalanx of the 2nd finger
def: "Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Partial duplication of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024149
is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger
is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-05-15T02:05:27Z

[Term]
id: HP:0009954
name: Complete duplication of the proximal phalanx of the 2nd finger
def: "Complete duplication of the Second proximal phalanx of hand." [HPO:probinson]
synonym: "Complete duplication of the proximal bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024148
is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger
is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-15T02:06:11Z

[Term]
id: HP:0009955
name: Partial duplication of the proximal phalanx of the 2nd finger
def: "Partial duplication of the Second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Partial duplication of the proximal bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024147
is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger
is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-15T02:06:11Z

[Term]
id: HP:0009956
name: Partial duplication of the phalanges of the 2nd finger
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators]
synonym: "Partial duplication of the bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024146
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
created_by: doelkens
creation_date: 2009-05-15T02:07:41Z

[Term]
id: HP:0009957
name: Complete duplication of the phalanges of the 2nd finger
def: "A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators]
synonym: "Complete duplication of the bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024145
is_a: HP:0009945 ! Duplication of phalanx of 2nd finger
is_a: HP:0009998 ! Complete duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-15T02:08:02Z

[Term]
id: HP:0009958
name: Polydactyly affecting the 3rd finger
synonym: "Extra middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024144
is_a: HP:0004150 ! Abnormal 3rd finger morphology
is_a: HP:0006159 ! Mesoaxial hand polydactyly
created_by: doelkens
creation_date: 2009-05-26T09:54:29Z

[Term]
id: HP:0009959
name: Duplication of phalanx of 3rd finger
def: "This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken]
synonym: "Duplication of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of phalanges of the 3rd finger" EXACT []
xref: UMLS:C4021364
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0009958 ! Polydactyly affecting the 3rd finger
created_by: doelkens
creation_date: 2009-05-26T09:54:51Z

[Term]
id: HP:0009960
name: Complete duplication of the phalanges of the 3rd finger
def: "A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators]
synonym: "Complete duplication of middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024143
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
is_a: HP:0009998 ! Complete duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009961
name: Partial duplication of the phalanges of the 3rd finger
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators]
synonym: "Partial duplication of middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024142
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009962
name: Duplication of the distal phalanx of the 3rd finger
def: "Partial or complete duplication of the distal phalanx of middle finger." [HPO:probinson]
synonym: "Partial/complete duplication of the distal phalanx of the 3rd finger" EXACT []
synonym: "Partial/complete duplication of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021363
is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
created_by: doelkens
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009963
name: Duplication of the middle phalanx of the 3rd finger
alt_id: HP:0004157
alt_id: HP:0004174
def: "Partial or complete duplication of the middle phalanx of middle finger." [HPO:probinson]
synonym: "Duplication of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 3rd finger" EXACT []
xref: UMLS:C4021362
is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009964
name: Duplication of the proximal phalanx of the 3rd finger
def: "Partial or complete duplication of the third proximal phalanx of hand." [HPO:probinson]
synonym: "Duplication of the proximal bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanx of the 3rd finger" EXACT []
xref: UMLS:C4021361
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
is_a: HP:0009959 ! Duplication of phalanx of 3rd finger
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T12:46:36Z

[Term]
id: HP:0009965
name: Complete duplication of the distal phalanx of the 3rd finger
def: "Complete duplication of the distal phalanx of middle finger" [HPO:probinson]
synonym: "Complete duplication of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024141
is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger
is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T12:49:35Z

[Term]
id: HP:0009966
name: Complete duplication of the middle phalanx of the 3rd finger
def: "Complete duplication of the middle phalanx of middle finger." [HPO:probinson]
synonym: "Complete duplication of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024140
is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger
is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T12:49:35Z

[Term]
id: HP:0009967
name: Complete duplication of the proximal phalanx of the 3rd finger
def: "Complete duplication of the third proximal phalanx of hand." [HPO:probinson]
synonym: "Complete duplication of the innermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024139
is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger
is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T12:49:35Z

[Term]
id: HP:0009968
name: Partial duplication of the distal phalanx of the 3rd finger
def: "Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Bifid terminal phalanx of the 3rd finger" EXACT []
synonym: "Notched outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021360
is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger
is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T12:49:59Z

[Term]
id: HP:0009969
name: Partial duplication of the middle phalanx of the 3rd finger
def: "Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Partial duplication of the middle bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024138
is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger
is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T12:49:59Z

[Term]
id: HP:0009970
name: Partial duplication of the proximal phalanx of the 3rd finger
def: "Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Partial duplication of the proximal bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024137
is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger
is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T12:49:59Z

[Term]
id: HP:0009971
name: Polydactyly affecting the 4th finger
synonym: "Extra ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024136
is_a: HP:0004188 ! Abnormal 4th finger morphology
is_a: HP:0006159 ! Mesoaxial hand polydactyly
created_by: doelkens
creation_date: 2009-05-26T02:19:06Z

[Term]
id: HP:0009972
name: Duplication of phalanx of 4th finger
def: "This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken]
synonym: "Duplication of bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of phalanges of the 4th finger" EXACT []
xref: UMLS:C4021359
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0009971 ! Polydactyly affecting the 4th finger
created_by: doelkens
creation_date: 2009-05-26T02:19:28Z

[Term]
id: HP:0009973
name: Complete duplication of the phalanges of the 4th finger
def: "A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators]
synonym: "Complete duplication of the bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024135
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
is_a: HP:0009998 ! Complete duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009974
name: Partial duplication of the phalanges of the 4th finger
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators]
synonym: "Partial duplication of the bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024134
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009975
name: Duplication of the distal phalanx of the 4th finger
def: "Partial or complete duplication of the distal phalanx of ring finger." [HPO:probinson]
synonym: "Partial/complete duplication of the distal phalanx of the 4th finger" EXACT []
synonym: "Partial/complete duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021358
is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
created_by: doelkens
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009976
name: Duplication of the middle phalanx of the 4th finger
def: "Partial or complete duplication of the middle phalanx of ring finger." [HPO:probinson]
synonym: "Partial/complete duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 4th finger" EXACT []
xref: UMLS:C4021357
is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009977
name: Duplication of the proximal phalanx of the 4th finger
def: "Partial or complete duplication of the fourth proximal phalanx of hand." [HPO:probinson]
synonym: "Duplication of the proximal bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanx of the 4th finger" EXACT []
xref: UMLS:C4021356
is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger
is_a: HP:0009972 ! Duplication of phalanx of 4th finger
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:20:08Z

[Term]
id: HP:0009978
name: Complete duplication of the distal phalanx of the 4th finger
def: "Complete duplication of the distal phalanx of ring finger." [HPO:probinson]
synonym: "Complete duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024133
is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger
is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:20:23Z

[Term]
id: HP:0009979
name: Complete duplication of the middle phalanx of the 4th finger
def: "Complete duplication of the middle phalanx of ring finger." [HPO:probinson]
synonym: "Complete duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024132
is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger
is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:20:23Z

[Term]
id: HP:0009980
name: Complete duplication of the proximal phalanx of the 4th finger
def: "Complete duplication of the fourth proximal phalanx of hand." [HPO:probinson]
synonym: "Complete duplication of the proximal bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024131
is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger
is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:20:23Z

[Term]
id: HP:0009981
name: Partial duplication of the distal phalanx of the 4th finger
def: "Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Bifid terminal phalanx of the 4th finger" EXACT []
synonym: "Notched outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021355
is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger
is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:20:37Z

[Term]
id: HP:0009982
name: Partial duplication of the middle phalanx of the 4th finger
def: "Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Partial duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024130
is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger
is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:20:37Z

[Term]
id: HP:0009983
name: Partial duplication of the proximal phalanx of the 4th finger
def: "Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Partial duplication of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024129
is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger
is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:20:37Z

[Term]
id: HP:0009985
name: Duplication of phalanx of 5th finger
def: "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken]
synonym: "Partial/complete duplication of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of phalanges of the 5th finger" EXACT []
synonym: "Partial/complete duplication of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021354
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0009997 ! Duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:23:38Z

[Term]
id: HP:0009986
name: Complete duplication of the phalanges of the 5th finger
def: "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators]
synonym: "Complete duplication of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024128
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
is_a: HP:0009998 ! Complete duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009987
name: Partial duplication of the phalanges of the 5th finger
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators]
synonym: "Partial duplication of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024127
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009988
name: Duplication of the distal phalanx of the 5th finger
def: "Partial or complete duplication of the distal phalanx of little finger." [HPO:probinson]
synonym: "Duplication of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the 5th finger" EXACT []
xref: UMLS:C4021353
is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
created_by: doelkens
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009989
name: Duplication of the middle phalanx of the 5th finger
def: "Partial or complete duplication of the fifth middle phalanx of hand." [HPO:probinson]
synonym: "Duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 5th finger" EXACT []
xref: UMLS:C4021352
is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009990
name: Duplication of the proximal phalanx of the 5th finger
def: "Partial or complete duplication of the fifth proximal phalanx of hand." [HPO:probinson]
synonym: "Duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanx of the 5th finger" EXACT []
xref: UMLS:C4021351
is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger
is_a: HP:0009985 ! Duplication of phalanx of 5th finger
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:24:20Z

[Term]
id: HP:0009991
name: Complete duplication of the distal phalanx of the 5th finger
def: "Complete duplication of the distal phalanx of little finger." [HPO:probinson]
synonym: "Complete duplication of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024126
is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger
is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger
is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:24:33Z

[Term]
id: HP:0009992
name: Complete duplication of the middle phalanx of the 5th finger
def: "Complete duplication of the fifth middle phalanx of hand." [HPO:probinson]
synonym: "Complete duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024125
is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger
is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger
is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:24:33Z

[Term]
id: HP:0009993
name: Complete duplication of the proximal phalanx of the 5th finger
def: "Complete duplication of the fifth proximal phalanx of hand." [HPO:probinson]
synonym: "Complete duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024124
is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger
is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger
is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:24:33Z

[Term]
id: HP:0009994
name: Partial duplication of the distal phalanx of the 5th finger
def: "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Bifid terminal phalanx of the 5th finger" EXACT []
synonym: "Notched outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021350
is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger
is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger
is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:24:47Z

[Term]
id: HP:0009995
name: Partial duplication of the middle phalanx of the 5th finger
def: "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Partial duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024123
is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger
is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger
is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:24:47Z

[Term]
id: HP:0009996
name: Partial duplication of the proximal phalanx of the 5th finger
def: "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken]
synonym: "Partial duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024122
is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger
is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger
is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-26T02:24:47Z

[Term]
id: HP:0009997
name: Duplication of phalanx of hand
alt_id: HP:0009143
def: "This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken]
synonym: "Duplication of finger bones" EXACT layperson []
xref: UMLS:C4021349
is_a: HP:0004275 ! Duplication of hand bones
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2009-05-26T02:28:25Z

[Term]
id: HP:0009998
name: Complete duplication of phalanx of hand
def: "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators]
synonym: "Complete duplication of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024121
is_a: HP:0009997 ! Duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:30:16Z

[Term]
id: HP:0009999
name: Partial duplication of the phalanx of hand
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators]
synonym: "Partial duplication of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024120
is_a: HP:0009997 ! Duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T02:30:35Z

[Term]
id: HP:0010000
name: Complete duplication of the proximal phalanges of the hand
def: "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators]
synonym: "Complete duplication of the innermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024119
is_a: HP:0009998 ! Complete duplication of phalanx of hand
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T03:55:02Z

[Term]
id: HP:0010001
name: Complete duplication of the distal phalanges of the hand
def: "A complete duplication affecting one or more of the distal phalanges of the hand." [HPO:sdoelken]
comment: As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism.
synonym: "Complete duplication of the outermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024118
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009998 ! Complete duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T03:55:02Z

[Term]
id: HP:0010002
name: Complete duplication of the middle phalanges of the hand
def: "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism." [HPO:sdoelken]
synonym: "Complete duplication of the middle bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024117
is_a: HP:0009998 ! Complete duplication of phalanx of hand
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T03:55:02Z

[Term]
id: HP:0010003
name: Partial duplication of the proximal phalanges of the hand
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators]
synonym: "Partial duplication of the innermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024116
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
is_a: HP:0010006 ! Duplication of the proximal phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T03:55:29Z

[Term]
id: HP:0010004
name: Partial duplication of the distal phalanges of the hand
alt_id: HP:0006196
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators]
synonym: "Bifid terminal phalanges of the hand" EXACT []
synonym: "Partial duplication of the outermost bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021348
is_a: HP:0009883 ! Duplication of the distal phalanx of hand
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T03:55:29Z

[Term]
id: HP:0010005
name: Partial duplication of the middle phalanges of the hand
def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators]
synonym: "Partial duplication of the middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024115
is_a: HP:0009999 ! Partial duplication of the phalanx of hand
is_a: HP:0010008 ! Duplication of the middle phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T03:55:29Z

[Term]
id: HP:0010006
name: Duplication of the proximal phalanx of hand
def: "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken]
synonym: "Duplication of the innermost bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanges of the hand" EXACT []
xref: UMLS:C4021347
is_a: HP:0009997 ! Duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T05:29:46Z

[Term]
id: HP:0010008
name: Duplication of the middle phalanx of hand
def: "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken]
synonym: "Duplication of the middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanges of the hand" EXACT []
xref: UMLS:C4021346
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
is_a: HP:0009997 ! Duplication of phalanx of hand
created_by: doelkens
creation_date: 2009-05-26T05:29:46Z

[Term]
id: HP:0010009
name: Abnormality of the 1st metacarpal
def: "A structural anomaly of the first metacarpal." [HPO:probinson]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits.
synonym: "Abnormality of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024114
is_a: HP:0001163 ! Abnormality of the metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010010
name: Abnormality of the 2nd metacarpal
def: "Any abnormality of the second metacarpal bone." [HPO:curators]
synonym: "Abnormality of the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024113
is_a: HP:0001163 ! Abnormality of the metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010011
name: Abnormality of the 3rd metacarpal
def: "Any abnormality of the third metacarpal bone." [HPO:curators]
synonym: "Abnormality of the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024112
is_a: HP:0001163 ! Abnormality of the metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010012
name: Abnormality of the 4th metacarpal
def: "Any abnormality of the fourth metacarpal bone." [HPO:curators]
synonym: "Abnormality of the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024111
is_a: HP:0001163 ! Abnormality of the metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010013
name: Abnormality of the 5th metacarpal
def: "Any abnormality of the fifth metacarpal bone." [HPO:curators]
synonym: "Abnormality of the 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024110
is_a: HP:0001163 ! Abnormality of the metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T03:35:21Z

[Term]
id: HP:0010014
name: Abnormality of the epiphysis of the 1st metacarpal
def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays." [HPO:curators]
synonym: "Abnormality of the end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024109
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T03:43:11Z

[Term]
id: HP:0010015
name: Absent epiphysis of the 1st metacarpal
synonym: "Absent end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024108
is_a: HP:0009196 ! Absent metacarpal epiphyses
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010016
name: Bracket epiphysis of the 1st metacarpal
def: "An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate." [HPO:probinson, pmid:24432108]
synonym: "Bracket shaped end part of 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024107
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand
is_a: HP:0200050 ! Bracket metacarpal epiphyses
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010017
name: Cone-shaped epiphysis of the 1st metacarpal
def: "A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance." [HPO:probinson]
synonym: "Cone-shaped end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024106
is_a: HP:0006059 ! Cone-shaped metacarpal epiphyses
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010018
name: Enlarged epiphysis of the 1st metacarpal
def: "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms." [HPO:probinson]
synonym: "Enlarged end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024105
is_a: HP:0006134 ! Enlarged metacarpal epiphyses
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010019
name: Fragmentation of the epiphysis of the 1st metacarpal
def: "Epiphysis of the 1st metacarpal having multiple bony fragments." [HPO:probinson]
synonym: "Fragmentation of the end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024104
is_a: HP:0009189 ! Fragmentation of the metacarpal epiphyses
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010020
name: Irregular epiphysis of the 1st metacarpal
def: "Uneven radiographic opacity of the epiphysis of the 1st metacarpal." [HPO:probinson]
synonym: "Irregular end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024103
is_a: HP:0009190 ! Irregular epiphyses of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010021
name: Ivory epiphysis of the 1st metacarpal
def: "The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Increased bone density of end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024102
is_a: HP:0009191 ! Ivory epiphyses of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010022
name: Pseudoepiphysis of the 1st metacarpal
def: "The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal." [HPO:probinson]
comment: This feature can be seen for example in Holt-Oram Syndrome.
xref: UMLS:C4024101
is_a: HP:0009193 ! Pseudoepiphyses of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010023
name: Small epiphysis of the 1st metacarpal
def: "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms." [HPO:probinson]
synonym: "Small end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024100
is_a: HP:0009194 ! Small epiphyses of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010024
name: Epiphyseal stippling of the first metacarpal
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone." [HPO:probinson]
synonym: "Speckled calcifications in the end part of the first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stippling of the epiphysis of the 1st metacarpal" EXACT []
xref: UMLS:C4021345
is_a: HP:0009195 ! Epiphyseal stippling of the metacarpals
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010025
name: Triangular epiphysis of the 1st metacarpal
synonym: "Triangular end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024099
is_a: HP:0009171 ! Triangular epiphyses of the metacarpals
is_a: HP:0009696 ! Triangular epiphyses of the thumb
is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:02:50Z

[Term]
id: HP:0010026
name: Aplasia/Hypoplasia of the 1st metacarpal
def: "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators]
synonym: "Absent/small 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024098
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010027
name: Broad 1st metacarpal
def: "Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators]
synonym: "Wide 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024097
is_a: HP:0001230 ! Broad metacarpals
is_a: HP:0009852 ! Broad proximal phalanges of the hand
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010028
name: Bullet-shaped 1st metacarpal
def: "The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\")." [HPO:probinson]
synonym: "Bullet-shaped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024096
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010029
name: Curved 1st metacarpal
def: "A deviation from the normal straight shape of the first metacarpal." [HPO:probinson]
synonym: "Curved 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024095
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010030
name: Osteolytic defects of the 1st metacarpal
def: "Dissolution or degeneration of bone tissue of the 1st metacarpal." [HPO:probinson]
comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness').
xref: UMLS:C4024094
is_a: HP:0001504 ! Metacarpal osteolysis
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010031
name: Patchy sclerosis of the 1st metacarpal
def: "Uneven increase in bone density within the 1st metacarpal." [HPO:probinson]
synonym: "Uneven increase in bone density in 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024093
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
is_a: HP:0100914 ! Sclerosis of the 1st metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010033
name: Triangular shaped 1st metacarpal
def: "This term applies to a triangular shaped 1st metacarpal." [HPO:probinson]
comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above).
synonym: "Triangular shaped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024092
is_a: HP:0010009 ! Abnormality of the 1st metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:24:30Z

[Term]
id: HP:0010034
name: Short 1st metacarpal
alt_id: HP:0001190
alt_id: HP:0001499
alt_id: HP:0005898
alt_id: HP:0006141
def: "A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand." [HPO:probinson]
comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="HPO:probinson"}
subset: hposlim_core
synonym: "First metacarpal hypoplasia" EXACT []
synonym: "First metacarpals hypoplastic" EXACT []
synonym: "Hypoplastic 1st metacarpal" EXACT []
synonym: "Short first metacarpal" EXACT []
synonym: "Short first metacarpals" EXACT []
synonym: "Shortened 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849311
is_a: HP:0009660 ! Short phalanx of the thumb
is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal
is_a: HP:0010049 ! Short metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:24:50Z

[Term]
id: HP:0010035
name: Aplasia of the 1st metacarpal
alt_id: HP:0006027
def: "Absent first metacarpal (long bone) of the hand." [HPO:probinson]
comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="HPO:curators"}
synonym: "Absent 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent first metacarpal" EXACT []
xref: UMLS:C1838610
is_a: HP:0009659 ! Partial absence of thumb
is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-05-27T04:25:14Z

[Term]
id: HP:0010036
name: Aplasia/Hypoplasia of the 2nd metacarpal
def: "Aplasia or Hypoplasia affecting the 2nd metacarpal." [HPO:curators]
synonym: "Absent/small 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024091
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0010010 ! Abnormality of the 2nd metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:34:44Z

[Term]
id: HP:0010037
name: Aplasia of the 2nd metacarpal
def: "Absence of the second long bone of the hand." [HPO:curators]
synonym: "Absent 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024090
is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T04:35:04Z

[Term]
id: HP:0010038
name: Short 2nd metacarpal
alt_id: HP:0006231
def: "Short second metacarpal bone because of developmental hypoplasia." [HPO:probinson]
synonym: "Hypoplastic 2nd metacarpal" RELATED []
synonym: "Rudimentary 2nd metacarpal" EXACT []
synonym: "Shortened 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1969397
xref: UMLS:C4020774
is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal
is_a: HP:0010049 ! Short metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:35:04Z

[Term]
id: HP:0010039
name: Aplasia/Hypoplasia of the 3rd metacarpal
def: "Aplasia or Hypoplasia affecting the 3rd metacarpal." [HPO:curators]
synonym: "Absent/small 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024089
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0010011 ! Abnormality of the 3rd metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:35:51Z

[Term]
id: HP:0010040
name: Aplasia of the 3rd metacarpal
def: "Absence of the third long bone of the hand." [HPO:curators]
synonym: "Absent 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024088
is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T04:36:08Z

[Term]
id: HP:0010041
name: Short 3rd metacarpal
alt_id: HP:0005624
alt_id: HP:0006074
alt_id: HP:0006120
def: "Short third metacarpal bone." [HPO:probinson]
synonym: "Hypoplastic 3rd metacarpal" EXACT []
synonym: "Short third metacarpals" EXACT []
synonym: "Shortened 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small 3rd metacarpals" EXACT []
xref: UMLS:C1850631
is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal
is_a: HP:0010049 ! Short metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:36:08Z

[Term]
id: HP:0010042
name: Aplasia/Hypoplasia of the 4th metacarpal
def: "Aplasia or Hypoplasia affecting the 4th metacarpal." [HPO:curators]
synonym: "Absent/small 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024087
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0010012 ! Abnormality of the 4th metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:36:49Z

[Term]
id: HP:0010043
name: Aplasia of the 4th metacarpal
def: "Absence of the fourth long bone of the hand." [HPO:curator]
synonym: "Absent 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024086
is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T04:37:00Z

[Term]
id: HP:0010044
name: Short 4th metacarpal
alt_id: HP:0005094
def: "Short fourth metacarpal bone." [HPO:probinson]
synonym: "Hypoplastic fourth metacarpal" EXACT []
synonym: "Short 4th metacarpals" EXACT []
synonym: "Short fourth metacarpals" EXACT []
synonym: "Shortened 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1840309
is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal
is_a: HP:0010049 ! Short metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:37:00Z

[Term]
id: HP:0010045
name: Aplasia/Hypoplasia of the 5th metacarpal
def: "Aplasia or Hypoplasia affecting the 5th metacarpal." [HPO:curators]
synonym: "Absent/small 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024085
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
is_a: HP:0010013 ! Abnormality of the 5th metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:37:31Z

[Term]
id: HP:0010046
name: Aplasia of the 5th metacarpal
alt_id: HP:0006103
def: "Absence of the fifth long bone of the hand." [HPO:curators]
synonym: "Absent 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent 5th metacarpal" EXACT []
xref: UMLS:C1867929
is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal
is_a: HP:0010048 ! Aplasia of metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T04:37:44Z

[Term]
id: HP:0010047
name: Short 5th metacarpal
alt_id: HP:0005737
alt_id: HP:0006004
alt_id: HP:0006222
def: "Short fifth metacarpal bone." [HPO:probinson]
synonym: "Fifth metacarpal hypoplasia" EXACT []
synonym: "Hypoplastic 5th metacarpal" EXACT []
synonym: "Short fifth metacarpal" EXACT []
synonym: "Short fifth metacarpals" EXACT []
synonym: "Shortened 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1861388
is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal
is_a: HP:0010049 ! Short metacarpal
created_by: doelkens
creation_date: 2009-05-27T04:37:44Z

[Term]
id: HP:0010048
name: Aplasia of metacarpal bones
alt_id: HP:0005911
def: "Developmental defect associated with absence of one or more metacarpal bones." [HPO:probinson]
subset: hposlim_core
synonym: "Absent long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent metacarpal" EXACT []
synonym: "Absent metacarpals" EXACT []
xref: UMLS:C1846473
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T04:40:58Z

[Term]
id: HP:0010049
name: Short metacarpal
alt_id: HP:0001164
alt_id: HP:0005695
alt_id: HP:0005717
alt_id: HP:0005909
alt_id: HP:0006047
alt_id: HP:0006183
alt_id: HP:0006186
def: "Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." [pmid:19125433]
comment: Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm.
subset: hposlim_core
synonym: "Brachymetacarpalia" EXACT []
synonym: "Hypoplastic metacarpal" EXACT []
synonym: "Metacarpal hypoplasia" EXACT []
synonym: "Short metacarpal bones" RELATED [HPO:skoehler]
synonym: "Short metacarpals" EXACT []
synonym: "Shortened long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Shortened metacarpals" EXACT []
synonym: "Shortening of metacarpals" EXACT []
xref: UMLS:C1837084
is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones
created_by: doelkens
creation_date: 2009-05-27T04:40:58Z

[Term]
id: HP:0010051
name: Deviation of the hallux
alt_id: HP:0004700
def: "Displacement of the big toe from its normal position." [HPO:curators]
synonym: "Displacement of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Displacement of the hallux" EXACT []
xref: UMLS:C4021344
is_a: HP:0001844 ! Abnormality of the hallux
is_a: HP:0100498 ! Deviation of toes
created_by: doelkens
creation_date: 2009-05-29T11:36:44Z

[Term]
id: HP:0010052
name: Abnormal morphology of the proximal phalanx of the hallux
def: "An abnormal shape or form of the proximal phalanx of the big toe." [HPO:probinson]
comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
synonym: "Abnormal innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the proximal phalanx of the hallux" EXACT []
xref: UMLS:C4024084
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T11:47:46Z

[Term]
id: HP:0010053
name: Abnormality of the distal phalanx of the hallux
synonym: "Abnormality of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024083
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T11:49:11Z

[Term]
id: HP:0010054
name: Abnormality of the first metatarsal bone
def: "An anomaly of the first metatarsal bone." [HPO:probinson]
comment: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal.
synonym: "Abnormality of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024082
is_a: HP:0001832 ! Abnormal metatarsal morphology
created_by: doelkens
creation_date: 2009-05-29T11:49:54Z

[Term]
id: HP:0010055
name: Broad hallux
alt_id: HP:0001834
alt_id: HP:0003094
alt_id: HP:0004710
alt_id: HP:0005883
def: "Visible increase in width of the hallux without an increase in the dorso-ventral dimension." [pmid:19125433]
comment: Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short.
subset: hposlim_core
synonym: "Abnormally broad great toes" EXACT []
synonym: "Broad big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad great toe" EXACT []
synonym: "Broad great toes" EXACT []
synonym: "Broad halluces" EXACT [HPO:skoehler]
synonym: "Wide big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1867131
is_a: HP:0001837 ! Broad toe
is_a: HP:0001844 ! Abnormality of the hallux
created_by: doelkens
creation_date: 2009-05-29T11:56:24Z

[Term]
id: HP:0010056
name: Abnormality of the epiphyses of the hallux
synonym: "Abnormality of the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024081
is_a: HP:0001844 ! Abnormality of the hallux
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T12:00:08Z

[Term]
id: HP:0010057
name: Abnormality of the phalanges of the hallux
synonym: "Abnormal big toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024080
is_a: HP:0001844 ! Abnormality of the hallux
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:00:08Z

[Term]
id: HP:0010058
name: Aplasia/Hypoplasia of the phalanges of the hallux
synonym: "Absent/small big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024079
is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010059
name: Broad hallux phalanx
def: "An increase in width in one or more phalanges of the big toe." [HPO:probinson]
synonym: "Broad bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad phalanges of the hallux" EXACT []
synonym: "Wide bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021343
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010174 ! Broad phalanx of the toes
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010060
name: Bullet-shaped hallux phalanx
def: "An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the hallux" EXACT []
xref: UMLS:C4021342
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010175 ! Bullet-shaped toe phalanx
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010061
name: Curved hallux phalanx
def: "A deviation from the normal straight form of one or more phalanges of the big toe." [HPO:probinson]
synonym: "Curve bones of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved phalanges of the hallux" EXACT []
xref: UMLS:C4021341
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010176 ! Curved toe phalanx
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010062
name: Osteolytic defects of the phalanges of the hallux
xref: UMLS:C4024078
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010063
name: Patchy sclerosis of hallux phalanx
def: "Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the hallux" EXACT []
synonym: "Uneven increase in bone density in big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021340
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0100930 ! Sclerosis of hallux phalanx
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010064
name: Symphalangism affecting the phalanges of the hallux
alt_id: HP:0004687
synonym: "Fused big toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "hallucal symphalangism" EXACT []
xref: UMLS:C1836216
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0100235 ! Synostosis involving bones of the toes
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010065
name: Triangular shaped phalanges of the hallux
synonym: "Triangular shaped bones of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024077
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010066
name: Duplication of phalanx of hallux
alt_id: HP:0001784
alt_id: HP:0005785
alt_id: HP:0005851
def: "Partial or complete duplication of one or more phalanx of big toe." [HPO:probinson]
synonym: "Duplicated hallux" EXACT []
synonym: "Duplication of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of great toes" EXACT layperson []
synonym: "Duplication of phalanx of big toe" EXACT []
synonym: "Hallucal duplication" EXACT []
synonym: "Partial/complete duplication of the phalanges of the hallux" NARROW []
xref: UMLS:C1860164
xref: UMLS:C4020691
is_a: HP:0010057 ! Abnormality of the phalanges of the hallux
is_a: HP:0010181 ! Duplication of phalanx of toe
created_by: doelkens
creation_date: 2009-05-29T12:10:46Z

[Term]
id: HP:0010067
name: Aplasia/hypoplasia of the 1st metatarsal
def: "Absence or underdevelopment of the first metatarsal bone." [HPO:probinson]
synonym: "Absent/small 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024076
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010068
name: Broad first metatarsal
alt_id: HP:0004709
alt_id: HP:0008085
alt_id: HP:0008139
def: "Increased side-to-side width of the first metatarsal bone." [HPO:probinson]
synonym: "Broad 1st metatarsal" EXACT []
synonym: "Enlarged first metatarsal" EXACT []
synonym: "Wide 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1855899
is_a: HP:0001783 ! Broad metatarsal
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010069
name: Bullet-shaped 1st metatarsal
def: "An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024075
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010070
name: Curved 1st metatarsal
def: "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone." [HPO:probinson]
synonym: "Curved 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024074
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010071
name: Osteolytic defects of the 1st metatarsal
def: "Dissolution or degeneration of bone tissue of the first metatarsal." [HPO:probinson]
xref: UMLS:C4024073
is_a: HP:0001473 ! Metatarsal osteolysis
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010072
name: Patchy sclerosis of the 1st metatarsal
synonym: "Uneven increase in bone density of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024072
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx
is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx
is_a: HP:0100945 ! Sclerosis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010073
name: Synostosis involving the 1st metatarsal
synonym: "Fusion involving the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024071
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010074
name: Triangular shaped 1st metatarsal
synonym: "Triangular shaped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024070
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010065 ! Triangular shaped phalanges of the hallux
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010075
name: Duplication of the 1st metatarsal
def: "A developmental defect consisting in the duplication of the first metatarsal bone." [HPO:probinson]
synonym: "Duplicated 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplicated first metatarsals" EXACT []
xref: UMLS:C1851855
is_a: HP:0001449 ! Duplication of metatarsal bones
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
created_by: doelkens
creation_date: 2009-05-29T12:13:57Z

[Term]
id: HP:0010076
name: Aplasia/Hypoplasia of the distal phalanx of the hallux
synonym: "Absent/small outermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024069
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010077
name: Broad distal phalanx of the hallux
def: "An increase in width of the distal phalanx of the big toe." [HPO:probinson]
synonym: "Broad outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024068
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010059 ! Broad hallux phalanx
is_a: HP:0010186 ! Broad distal phalanx of the toes
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010078
name: Bullet-shaped distal phalanx of the hallux
def: "An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024067
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010060 ! Bullet-shaped hallux phalanx
is_a: HP:0010187 ! Bullet-shaped distal toe phalanx
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010079
name: Curved distal phalanx of the hallux
def: "A deviation from the normal straight form of the distal phalanx of the big toe." [HPO:probinson]
synonym: "Curved outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024066
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010061 ! Curved hallux phalanx
is_a: HP:0010188 ! Curved distal toe phalanx
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010080
name: Osteolytic defects of the distal phalanx of the hallux
xref: UMLS:C4024065
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux
is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010081
name: Patchy sclerosis of the distal phalanx of the hallux
synonym: "Uneven increase in bone density in the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024064
is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx
is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx
is_a: HP:0100944 ! Sclerosis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010082
name: Symphalangism affecting the distal phalanx of the hallux
synonym: "Fused outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024063
is_a: HP:0001859 ! Distal foot symphalangism
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux
is_a: HP:0010191 ! Symphalangism affecting the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010083
name: Triangular shaped distal phalanx of the hallux
synonym: "Triangular shaped outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024062
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010065 ! Triangular shaped phalanges of the hallux
is_a: HP:0010192 ! Triangular shaped distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010084
name: Duplication of the distal phalanx of the hallux
synonym: "Duplication of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the hallux" EXACT []
xref: UMLS:C4021339
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0010066 ! Duplication of phalanx of hallux
is_a: HP:0010193 ! Duplication of distal phalanx of toe
created_by: doelkens
creation_date: 2009-05-29T12:16:28Z

[Term]
id: HP:0010085
name: Aplasia/Hypoplasia of the proximal phalanx of the hallux
synonym: "Absent/small innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024061
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux
is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010086
name: Broad proximal phalanx of the hallux
def: "Increased width of proximal phalanx of big toe." [HPO:probinson]
synonym: "Broad innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad proximal phalanx of the big toe" EXACT []
xref: UMLS:C4021338
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010059 ! Broad hallux phalanx
is_a: HP:0010204 ! Broad proximal phalanx of toe
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010087
name: Bullet-shaped proximal phalanx of the hallux
def: "An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024060
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010060 ! Bullet-shaped hallux phalanx
is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010088
name: Curved proximal phalanx of the hallux
def: "A deviation from the normal straight form of the proximal phalanx of the big toe." [HPO:probinson]
synonym: "Curved innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024059
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010061 ! Curved hallux phalanx
is_a: HP:0010206 ! Curved proximal toe phalanx
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010089
name: Osteolytic defects of the proximal phalanx of the hallux
xref: UMLS:C4024058
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux
is_a: HP:0010198 ! Osteolytic defects of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010090
name: Patchy sclerosis of the proximal phalanx of the hallux
synonym: "Uneven increase in bone density in the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024057
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx
is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx
is_a: HP:0100943 ! Sclerosis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010091
name: Symphalangism affecting the proximal phalanx of the hallux
synonym: "Fused innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024056
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010064 ! Symphalangism affecting the phalanges of the hallux
is_a: HP:0010200 ! Symphalangism affecting the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010092
name: Triangular shaped proximal phalanx of the hallux
synonym: "Triangular shaped innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024055
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010065 ! Triangular shaped phalanges of the hallux
is_a: HP:0010201 ! Triangular shaped middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010093
name: Duplication of the proximal phalanx of the hallux
def: "Partial or complete duplication of the proximal phalanx of big toe." [HPO:sdoelken]
synonym: "Duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024054
is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux
is_a: HP:0010066 ! Duplication of phalanx of hallux
is_a: HP:0010202 ! Duplication of middle phalanx of toe
created_by: doelkens
creation_date: 2009-05-29T12:17:16Z

[Term]
id: HP:0010094
name: Complete duplication of the proximal phalanx of the hallux
def: "Complete duplication of the proximal phalanx of big toe." [HPO:sdoelken]
synonym: "Complete duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024053
is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux
is_a: HP:0010100 ! Complete duplication of hallux phalanx
created_by: doelkens
creation_date: 2009-05-29T12:18:59Z

[Term]
id: HP:0010095
name: Partial duplication of the proximal phalanx of the hallux
def: "Partial duplication of the proximal phalanx of big toe." [HPO:sdoelken]
synonym: "Partial duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024052
is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux
is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux
created_by: doelkens
creation_date: 2009-05-29T12:18:59Z

[Term]
id: HP:0010096
name: Complete duplication of the distal phalanx of the hallux
synonym: "Complete duplication of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024051
is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux
is_a: HP:0010100 ! Complete duplication of hallux phalanx
created_by: doelkens
creation_date: 2009-05-29T12:19:30Z

[Term]
id: HP:0010097
name: Partial duplication of the distal phalanx of the hallux
alt_id: HP:0008091
synonym: "Bifid distal phalanx of hallux" EXACT []
synonym: "Notched outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021337
is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux
is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux
created_by: doelkens
creation_date: 2009-05-29T12:19:30Z

[Term]
id: HP:0010098
name: Complete duplication of the 1st metatarsal
alt_id: HP:0008121
def: "A developmental defect consisting in the complete duplication of the first metatarsal bone." [HPO:probinson]
synonym: "Complete duplication of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024050
is_a: HP:0010075 ! Duplication of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T12:20:12Z

[Term]
id: HP:0010099
name: Partial duplication of the 1st metatarsal
def: "A developmental defect consisting in the duplication of part of the first metatarsal bone." [HPO:probinson]
synonym: "Partial duplication of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024049
is_a: HP:0010075 ! Duplication of the 1st metatarsal
is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux
created_by: doelkens
creation_date: 2009-05-29T12:20:12Z

[Term]
id: HP:0010100
name: Complete duplication of hallux phalanx
def: "Complete duplication of one or more phalanx of big toe." [HPO:probinson]
synonym: "Complete duplication of big toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the phalanges of the hallux" EXACT []
xref: UMLS:C4021336
is_a: HP:0010066 ! Duplication of phalanx of hallux
created_by: doelkens
creation_date: 2009-05-29T12:22:12Z

[Term]
id: HP:0010101
name: Partial duplication of the phalanges of the hallux
alt_id: HP:0004678
synonym: "Partial duplication of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "partial duplication of hallux" EXACT []
xref: UMLS:C1855005
is_a: HP:0010066 ! Duplication of phalanx of hallux
created_by: doelkens
creation_date: 2009-05-29T12:22:12Z

[Term]
id: HP:0010102
name: Aplasia of the distal phalanx of the hallux
synonym: "Absent outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024048
is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux
is_a: HP:0010110 ! Aplasia of the phalanges of the hallux
is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:41:37Z

[Term]
id: HP:0010103
name: Short distal phalanx of hallux
def: "Underdevelopment (hypoplasia) of the distal phalanx of big toe." [HPO:probinson]
synonym: "Hypoplastic/small distal phalanx of the hallux" EXACT []
synonym: "Small distal phalanx of big toe" EXACT []
synonym: "Small distal phalanx of hallux" EXACT []
synonym: "Small outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021335
is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux
is_a: HP:0010111 ! Short phalanx of hallux
created_by: doelkens
creation_date: 2009-05-29T12:41:37Z

[Term]
id: HP:0010104
name: Absent first metatarsal
alt_id: HP:0006124
def: "A developmental defect characterized by the absence of the first metatarsal bone." [HPO:probinson]
synonym: "Absent 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent 1st metatarsal" EXACT []
synonym: "Aplasia of the 1st metatarsal" EXACT []
xref: UMLS:C1863382
is_a: HP:0010067 ! Aplasia/hypoplasia of the 1st metatarsal
is_a: HP:0010744 ! Absent metatarsal bone
created_by: doelkens
creation_date: 2009-05-29T12:42:09Z

[Term]
id: HP:0010105
name: Short first metatarsal
alt_id: HP:0004680
def: "Short first metatarsal bone." [HPO:probinson]
synonym: "First metatarsal hypoplasia" EXACT []
synonym: "First metatarsals hypoplastic" EXACT []
synonym: "Short 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1841688
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010743 ! Short metatarsal
created_by: doelkens
creation_date: 2009-05-29T12:42:09Z

[Term]
id: HP:0010106
name: Aplasia of the proximal phalanx of the hallux
synonym: "Absent innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024047
is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux
is_a: HP:0010110 ! Aplasia of the phalanges of the hallux
is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:43:40Z

[Term]
id: HP:0010107
name: Short proximal phalanx of hallux
alt_id: HP:0008101
alt_id: HP:0008129
def: "Underdevelopment (hypoplasia) of the proximal phalanx of big toe." [HPO:probinson]
synonym: "Hypoplastic proximal phalanx of the hallux" EXACT []
synonym: "Short innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short proximal phalanges of halluces" EXACT []
synonym: "Short proximal phalanx of halluces" EXACT []
synonym: "Small proximal phalanx of big toe" EXACT []
synonym: "Small proximal phalanx of hallux" EXACT []
xref: UMLS:C1862159
is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux
is_a: HP:0010111 ! Short phalanx of hallux
created_by: doelkens
creation_date: 2009-05-29T12:43:40Z

[Term]
id: HP:0010109
name: Short hallux
alt_id: HP:0001843
alt_id: HP:0001861
alt_id: HP:0005610
alt_id: HP:0008105
def: "Underdevelopment (hypoplasia) of the big toe." [HPO:probinson]
synonym: "Hypoplastic big toes" EXACT []
synonym: "Hypoplastic hallux" EXACT []
synonym: "Short big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short halluces" EXACT []
synonym: "Small hallux" EXACT []
xref: UMLS:C1865992
is_a: HP:0001831 ! Short toe
is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux
created_by: doelkens
creation_date: 2009-05-29T12:46:14Z

[Term]
id: HP:0010110
name: Aplasia of the phalanges of the hallux
synonym: "Absent bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024046
is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:49:19Z

[Term]
id: HP:0010111
name: Short phalanx of hallux
def: "Underdevelopment (hypoplasia) of a phalanx of big toe." [HPO:probinson]
synonym: "Hypoplastic phalanges of the hallux" EXACT layperson []
synonym: "Short bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021334
is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux
is_a: HP:0010109 ! Short hallux
is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T12:49:19Z

[Term]
id: HP:0010112
name: Mesoaxial foot polydactyly
def: "The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly." [HPO:probinson]
subset: hposlim_core
synonym: "Central polydactyly of feet" EXACT layperson []
xref: UMLS:C4021333
is_a: HP:0001829 ! Foot polydactyly
is_a: HP:0100260 ! Mesoaxial polydactyly
created_by: doelkens
creation_date: 2009-05-29T01:11:06Z

[Term]
id: HP:0010113
name: Absent hallux epiphysis
def: "Failure to form (agenesis) of one or more epiphyses of the big toe." [HPO:probinson]
synonym: "Absent end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent epiphyses of the hallux" EXACT []
xref: UMLS:C4020906
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010162 ! Absent epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010114
name: Bracket epiphyses of the hallux
synonym: "Bracket shaped end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024045
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010163 ! Bracket epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010115
name: Cone-shaped epiphyses of the hallux
synonym: "Cone-shaped end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024044
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010164 ! Cone-shaped epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010116
name: Enlarged epiphyses of the hallux
synonym: "Enlarged end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024043
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010165 ! Enlarged epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010117
name: Fragmentation of the epiphyses of the hallux
synonym: "Fragmentation of the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024042
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010118
name: Irregular epiphyses of the hallux
synonym: "Irregular end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024041
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010167 ! Irregular epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010119
name: Ivory epiphyses of the hallux
synonym: "Increased bone density of end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024040
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010168 ! Ivory epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010120
name: Pseudoepiphyses of the hallux
xref: UMLS:C4024039
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010169 ! Pseudoepiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010121
name: Small epiphyses of the hallux
synonym: "Small end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024038
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010170 ! Small epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010122
name: Stippling of the epiphyses of the hallux
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux." [HPO:curators]
synonym: "Speckled calcifications in the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024037
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010123
name: Triangular epiphyses of the hallux
synonym: "Triangular end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024036
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
is_a: HP:0010172 ! Triangular epiphyses of the toes
created_by: doelkens
creation_date: 2009-05-29T01:16:38Z

[Term]
id: HP:0010124
name: Abnormality of the epiphysis of the distal phalanx of the hallux
synonym: "Abnormality of the end part of the outermost bone of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024035
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:17:54Z

[Term]
id: HP:0010125
name: Abnormality of the epiphysis of the 1st metatarsal
def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone." [HPO:curators]
synonym: "Abnormality of the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024034
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:17:54Z

[Term]
id: HP:0010126
name: Abnormality of the epiphysis of the proximal phalanx of the hallux
def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux." [HPO:curators]
synonym: "Abnormality of the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024033
is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:17:54Z

[Term]
id: HP:0010127
name: Absent epiphysis of the proximal phalanx of the hallux
def: "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux." [HPO:probinson]
synonym: "Absent end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024032
is_a: HP:0010113 ! Absent hallux epiphysis
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010128
name: Bracket epiphysis of the proximal phalanx of the hallux
def: "The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [HPO:probinson]
synonym: "Bracket shaped end part of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024031
is_a: HP:0010114 ! Bracket epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010129
name: Cone-shaped epiphysis of the proximal phalanx of the hallux
synonym: "Cone-shaped end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024030
is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010130
name: Enlarged epiphysis of the proximal phalanx of the hallux
synonym: "Enlarged end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024029
is_a: HP:0010116 ! Enlarged epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010131
name: Fragmentation of the epiphysis of the proximal phalanx of the hallux
synonym: "Fragmentation of the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024028
is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010132
name: Irregular epiphysis of the proximal phalanx of the hallux
synonym: "Irregular end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024027
is_a: HP:0010118 ! Irregular epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010133
name: Ivory epiphysis of the proximal phalanx of the hallux
synonym: "Increased bone density of end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024026
is_a: HP:0010119 ! Ivory epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010134
name: Pseudoepiphysis of the proximal phalanx of the hallux
xref: UMLS:C4024025
is_a: HP:0010120 ! Pseudoepiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010135
name: Small epiphysis of the proximal phalanx of the hallux
synonym: "Small end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024024
is_a: HP:0010121 ! Small epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010136
name: Stippling of the epiphysis of the proximal phalanx of the hallux
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux." [HPO:curators]
synonym: "Speckled calcifications in the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024023
is_a: HP:0010122 ! Stippling of the epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010137
name: Triangular epiphysis of the proximal phalanx of the hallux
synonym: "Triangular end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024022
is_a: HP:0010123 ! Triangular epiphyses of the hallux
is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:23Z

[Term]
id: HP:0010138
name: Absent epiphysis of the distal phalanx of the hallux
def: "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux." [HPO:probinson]
synonym: "Absent end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024021
is_a: HP:0010113 ! Absent hallux epiphysis
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010139
name: Bracket epiphysis of the distal phalanx of the hallux
def: "The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [HPO:probinson]
synonym: "Bracket shaped end part of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024020
is_a: HP:0010114 ! Bracket epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010140
name: Cone-shaped epiphysis of the distal phalanx of the hallux
synonym: "Cone-shaped end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024019
is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010141
name: Enlarged epiphysis of the distal phalanx of the hallux
synonym: "Enlarged end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024018
is_a: HP:0010116 ! Enlarged epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010142
name: Fragmentation of the epiphysis of the distal phalanx of the hallux
synonym: "Fragmentation of the end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024017
is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010143
name: Irregular epiphysis of the distal phalanx of the hallux
synonym: "Irregular end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024016
is_a: HP:0010118 ! Irregular epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010144
name: Ivory epiphysis of the distal phalanx of the hallux
synonym: "Increased bone density of end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024015
is_a: HP:0010119 ! Ivory epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010145
name: Pseudoepiphysis of the distal phalanx of the hallux
xref: UMLS:C4024014
is_a: HP:0010120 ! Pseudoepiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010146
name: Small epiphysis of the distal phalanx of the hallux
synonym: "Small end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024013
is_a: HP:0010121 ! Small epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010147
name: Stippling of the epiphysis of the distal phalanx of the hallux
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux." [HPO:curators]
synonym: "Speckled calcifications in the end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024012
is_a: HP:0010122 ! Stippling of the epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010148
name: Triangular epiphysis of the distal phalanx of the hallux
synonym: "Triangular end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024011
is_a: HP:0010123 ! Triangular epiphyses of the hallux
is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux
created_by: doelkens
creation_date: 2009-05-29T01:22:47Z

[Term]
id: HP:0010149
name: Absent epiphysis of the 1st metatarsal
def: "Failure to form (agenesis) of the epiphysis of the 1st metatarsal." [HPO:probinson]
synonym: "Absent end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024010
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010150
name: Bracket epiphysis of the 1st metatarsal
def: "The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form." [HPO:probinson]
synonym: "Bracket shaped end part of 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024009
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010151
name: Cone-shaped epiphysis of the 1st metatarsal
def: "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot." [HPO:curators]
synonym: "Cone-shaped end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024008
is_a: HP:0010054 ! Abnormality of the first metatarsal bone
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
is_a: HP:0010630 ! Abnormality of metatarsal epiphysis
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010152
name: Enlarged epiphysis of the 1st metatarsal
synonym: "Enlarged end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024007
is_a: HP:0010116 ! Enlarged epiphyses of the hallux
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010153
name: Fragmentation of the epiphysis of the 1st metatarsal
synonym: "Fragmentation of the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024006
is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010154
name: Irregular epiphysis of the 1st metatarsal
synonym: "Irregular end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024005
is_a: HP:0010118 ! Irregular epiphyses of the hallux
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010155
name: Ivory epiphysis of the 1st metatarsal
def: "The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Increased bone density of end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024004
is_a: HP:0010119 ! Ivory epiphyses of the hallux
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010156
name: Pseudoepiphysis of the 1st metatarsal
xref: UMLS:C4024003
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010157
name: Small epiphysis of the 1st metatarsal
synonym: "Small end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024002
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010158
name: Stippling of the epiphysis of the 1st metatarsal
synonym: "Speckled calcifications in the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024001
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010159
name: Triangular epiphysis of the 1st metatarsal
synonym: "Triangular end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4024000
is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal
created_by: doelkens
creation_date: 2009-05-29T01:24:17Z

[Term]
id: HP:0010160
name: Abnormality of the epiphyses of the toes
synonym: "Abnormality of the end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023999
is_a: HP:0001780 ! Abnormality of toe
is_a: HP:0010631 ! Abnormality of the epiphyses of the feet
created_by: doelkens
creation_date: 2009-05-29T01:30:42Z

[Term]
id: HP:0010161
name: Abnormality of the phalanges of the toes
synonym: "Abnormality of the long bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023998
is_a: HP:0001780 ! Abnormality of toe
created_by: doelkens
creation_date: 2009-05-29T01:31:17Z

[Term]
id: HP:0010162
name: Absent epiphyses of the toes
def: "Absence of the epiphyses of the phalanges of the toes." [HPO:sdoelken]
synonym: "Absent end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023997
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010577 ! Absent epiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010163
name: Bracket epiphyses of the toes
synonym: "Bracket shaped end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023996
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010578 ! Bracket epiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010164
name: Cone-shaped epiphyses of the toes
synonym: "Cone-shaped end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023995
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010579 ! Cone-shaped epiphysis
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010165
name: Enlarged epiphyses of the toes
synonym: "Enlarged end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023994
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010580 ! Enlarged epiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010166
name: Fragmentation of the epiphyses of the toes
synonym: "Fragmentation of the end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023993
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0100168 ! Fragmented epiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010167
name: Irregular epiphyses of the toes
synonym: "Irregular end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023992
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010582 ! Irregular epiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010168
name: Ivory epiphyses of the toes
synonym: "Increased bone density of end part of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023991
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010583 ! Ivory epiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010169
name: Pseudoepiphyses of the toes
xref: UMLS:C4023990
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010584 ! Pseudoepiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010170
name: Small epiphyses of the toes
synonym: "Small end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023989
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010585 ! Small epiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010171
name: Epiphyseal stippling of toe phalanges
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes." [HPO:probinson]
synonym: "Speckled calcifications in long toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stippling of the epiphyses of the toes" EXACT []
xref: UMLS:C4021332
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010655 ! Epiphyseal stippling
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010172
name: Triangular epiphyses of the toes
synonym: "Triangular end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023988
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010587 ! Triangular epiphyses
created_by: doelkens
creation_date: 2009-05-29T01:34:06Z

[Term]
id: HP:0010173
name: Aplasia/Hypoplasia of the phalanges of the toes
synonym: "Absent/small toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023987
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010174
name: Broad phalanx of the toes
def: "Increased width of phalanx of one or more toes." [HPO:probinson]
synonym: "Wide toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023986
is_a: HP:0006009 ! Broad phalanx
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010175
name: Bullet-shaped toe phalanx
def: "An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped phalanges of the toes" EXACT layperson []
synonym: "Bullet-shaped toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021331
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010176
name: Curved toe phalanx
def: "A deviation from the normal straight form of one or more toe phalanges." [HPO:probinson]
synonym: "Curved phalanges of the toes" EXACT []
synonym: "Curved toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021330
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010177
name: Osteolytic defects of the phalanges of the toes
xref: UMLS:C4023985
is_a: HP:0009134 ! Osteolysis involving bones of the feet
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010178
name: Patchy sclerosis of toe phalanx
def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the foot." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the toes" EXACT []
synonym: "Uneven increase in bone density in toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021329
is_a: HP:0005686 ! Patchy osteosclerosis
is_a: HP:0100924 ! Sclerosis of toe phalanx
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010179
name: Symphalangism affecting the phalanges of the toes
synonym: "Fused toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023984
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010180
name: Triangular shaped phalanges of the toes
synonym: "Triangular shaped toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023983
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010181
name: Duplication of phalanx of toe
def: "Partial/complete duplication of one or more phalanx of toe." [HPO:probinson]
synonym: "Duplicated toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the phalanges of the toes" EXACT []
xref: UMLS:C4021328
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:39:26Z

[Term]
id: HP:0010182
name: Abnormality of the distal phalanges of the toes
synonym: "Abnormality of the outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023982
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:51:38Z

[Term]
id: HP:0010183
name: Abnormality of the middle phalanges of the toes
synonym: "Abnormal middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023981
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:51:38Z

[Term]
id: HP:0010184
name: Abnormality of toe proximal phalanx
def: "A morphological anomaly of one or more proximal phalanges of one or more toes." [HPO:probinson]
synonym: "Abnormal innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4021327
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:51:38Z

[Term]
id: HP:0010185
name: Aplasia/Hypoplasia of the distal phalanges of the toes
alt_id: HP:0005735
alt_id: HP:0005818
def: "Absence or underdevelopment of the distal phalanges of the toes." [HPO:probinson]
synonym: "Absent/hypoplastic terminal phalanges of toes" EXACT []
synonym: "Absent/small outermost bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypoplasia/agenesis of distal phalanges of toes" RELATED []
xref: UMLS:C4020773
xref: UMLS:C4021326
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0010760 ! Absent toe
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010186
name: Broad distal phalanx of the toes
def: "Increased width of the distal phalanx of toe of one or more toes." [HPO:probinson]
synonym: "Broad outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023980
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010187
name: Bullet-shaped distal toe phalanx
def: "An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped distal phalanges of the toes" EXACT []
synonym: "Bullet-shaped outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021325
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010188
name: Curved distal toe phalanx
def: "A deviation from the normal straight form of one or more distal toe phalanges." [HPO:probinson]
synonym: "Curved distal phalanges of the toes" EXACT []
synonym: "Curved outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021324
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010189
name: Osteolytic defects of the distal phalanges of the toes
xref: UMLS:C4023979
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010190
name: Patchy sclerosis of distal toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Patchy sclerosis of the distal phalanges of the toes" EXACT []
synonym: "Uneven increase in bone density in outermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021323
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0100948 ! Sclerosis of distal toe phalanx
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010191
name: Symphalangism affecting the distal phalanges of the toes
synonym: "Fused outermost bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023978
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010192
name: Triangular shaped distal phalanges of the toes
synonym: "Triangular shaped outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023977
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010193
name: Duplication of distal phalanx of toe
def: "A partial or complete duplication of one or more distal phalanx of toe." [HPO:sdoelken]
synonym: "Duplication of outermost bone of toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanges of the toes" EXACT []
xref: UMLS:C4021322
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:52:41Z

[Term]
id: HP:0010194
name: Aplasia/Hypoplasia of the middle phalanges of the toes
synonym: "Absent/small middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023976
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010195
name: Broad middle phalanges of the toes
synonym: "Broad middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023975
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010196
name: Bullet-shaped middle toe phalanx
def: "An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped middle phalanges of the toes" EXACT []
xref: UMLS:C4021321
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010197
name: Curved middle toe phalanx
def: "A deviation from the normal straight form of one or more middle toe phalanges." [HPO:probinson]
synonym: "Curved middle bones of the toes" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Curved middle phalanges of the toes" EXACT []
xref: UMLS:C4021320
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010198
name: Osteolytic defects of the middle phalanges of the toes
xref: UMLS:C4023974
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010199
name: Patchy sclerosis of middle toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Patchy sclerosis of the middle phalanges of the toes" EXACT []
synonym: "Uneven increase in bone density in middle toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021319
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0100947 ! Sclerosis of middle toe phalanx
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010200
name: Symphalangism affecting the middle phalanges of the toes
synonym: "Fused middle bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023973
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010201
name: Triangular shaped middle phalanges of the toes
synonym: "Triangular shaped middle bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023972
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010202
name: Duplication of middle phalanx of toe
def: "Partial or complete duplication of a middle phalanx of toe." [HPO:probinson]
synonym: "Partial/complete duplication of the middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanges of the toes" EXACT []
xref: UMLS:C4021318
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-05-29T01:53:35Z

[Term]
id: HP:0010203
name: Aplasia/hypoplasia of proximal toe phalanx
def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes." [HPO:probinson]
synonym: "Absent/small innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia/Hypoplasia of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4021317
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010204
name: Broad proximal phalanx of toe
def: "An increase in width of one ore more proximal toe phalanges." [HPO:probinson]
synonym: "Broad innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023971
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010205
name: Bullet-shaped proximal toe phalanx
def: "An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped proximal phalanges of the toes" EXACT []
synonym: "Bullet-shaped proximal phalanges of toe" EXACT []
xref: UMLS:C4021316
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010206
name: Curved proximal toe phalanx
def: "A deviation from the normal straight shape of a proximal phalanx of one or more toes." [HPO:probinson]
synonym: "Curved innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved proximal phalanges of the toes" EXACT []
xref: UMLS:C4021315
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010207
name: Osteolytic defect of the proximal toe phalanx
def: "Dissolution or degeneration of bone tissue of the proximal toe phalanx." [HPO:probinson]
synonym: "Osteolytic defects of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4021314
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010208
name: Patchy sclerosis of proximal toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Patchy sclerosis of the proximal phalanges of the toes" EXACT []
synonym: "Uneven increase in bone density in innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021313
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0100946 ! Sclerosis of proximal toe phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010209
name: Symphalangism affecting the proximal phalanges of the toes
synonym: "Fused innermost bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023970
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010210
name: Triangular shaped proximal phalanges of the toes
synonym: "Triangular shaped innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023969
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010211
name: Duplication of proximal phalanx of toe
def: "Partial/complete duplication of a proximal phalanx of toe." [HPO:sdoelken]
synonym: "Duplication of innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4021312
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: doelkens
creation_date: 2009-05-29T01:54:18Z

[Term]
id: HP:0010212
name: Flexion contracture of the hallux
def: "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively." [HPO:probinson]
synonym: "Joint contracture of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Joint contracture of the hallux" EXACT []
xref: UMLS:C4021311
is_a: HP:0001844 ! Abnormality of the hallux
is_a: HP:0005830 ! Flexion contracture of toe
created_by: doelkens
creation_date: 2009-06-02T01:39:18Z

[Term]
id: HP:0010213
name: Contracture of the tarsometatarsal joint of the hallux
def: "Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints." [HPO:probinson]
xref: UMLS:C4023968
is_a: HP:0010212 ! Flexion contracture of the hallux
created_by: doelkens
creation_date: 2009-06-02T01:45:34Z

[Term]
id: HP:0010214
name: Contracture of the interphalangeal joint of the hallux
def: "The interphalangeal joint of the big toe cannot be straightened actively or passively." [HPO:probinson]
xref: UMLS:C4023967
is_a: HP:0010212 ! Flexion contracture of the hallux
created_by: doelkens
creation_date: 2009-06-02T01:45:34Z

[Term]
id: HP:0010215
name: Contractures of the metatarsophalangeal joint of the hallux
def: "The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively." [HPO:probinson]
xref: UMLS:C4023966
is_a: HP:0010212 ! Flexion contracture of the hallux
created_by: doelkens
creation_date: 2009-06-02T01:45:34Z

[Term]
id: HP:0010219
name: Structural foot deformity
def: "A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies." [HPO:curators]
xref: UMLS:C4023965
is_a: HP:0001760 ! Abnormality of the foot
created_by: doelkens
creation_date: 2009-06-04T05:14:38Z

[Term]
id: HP:0010220
name: Abnormality of the epiphysis of the 2nd metacarpal
def: "Any abnormality of the epiphysis of the second metacarpal bone." [HPO:curators]
synonym: "Abnormality of the end part of the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023964
is_a: HP:0010010 ! Abnormality of the 2nd metacarpal
created_by: doelkens
creation_date: 2009-07-02T04:07:33Z

[Term]
id: HP:0010221
name: Pseudoepiphysis of the 2nd metacarpal
def: "The normal epiphysis of the second metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators]
xref: UMLS:C4023963
is_a: HP:0010220 ! Abnormality of the epiphysis of the 2nd metacarpal
created_by: doelkens
creation_date: 2009-07-02T04:08:00Z

[Term]
id: HP:0010222
name: Abnormality of the epiphysis of the 3rd metacarpal
def: "Any abnormality of the epiphysis of the third metacarpal bone." [HPO:curators]
synonym: "Abnormality of the end part of the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023962
is_a: HP:0010011 ! Abnormality of the 3rd metacarpal
created_by: doelkens
creation_date: 2009-07-02T04:10:28Z

[Term]
id: HP:0010223
name: Pseudoepiphysis of the 3rd metacarpal
def: "The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators]
xref: UMLS:C4023961
is_a: HP:0010222 ! Abnormality of the epiphysis of the 3rd metacarpal
created_by: doelkens
creation_date: 2009-07-02T04:10:52Z

[Term]
id: HP:0010224
name: Abnormality of the epiphysis of the 4th metacarpal
def: "Any abnormality of the epiphysis of the 4th metacarpal bone." [HPO:curators]
synonym: "Abnormality of the end part of the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023960
is_a: HP:0010012 ! Abnormality of the 4th metacarpal
created_by: doelkens
creation_date: 2009-07-02T04:11:46Z

[Term]
id: HP:0010225
name: Pseudoepiphysis of the 4th metacarpal
def: "The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators]
xref: UMLS:C4023959
is_a: HP:0010224 ! Abnormality of the epiphysis of the 4th metacarpal
created_by: doelkens
creation_date: 2009-07-02T04:12:04Z

[Term]
id: HP:0010226
name: Abnormality of the epiphysis of the 5th metacarpal
def: "Any abnormality of the epiphysis of the fifth metacarpal bone." [HPO:curators]
synonym: "Abnormality of the end part of the long bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the long bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the long bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023958
is_a: HP:0010013 ! Abnormality of the 5th metacarpal
created_by: doelkens
creation_date: 2009-07-02T04:13:00Z

[Term]
id: HP:0010227
name: Pseudoepiphysis of the 5th metacarpal
def: "The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators]
xref: UMLS:C4023957
is_a: HP:0010226 ! Abnormality of the epiphysis of the 5th metacarpal
created_by: doelkens
creation_date: 2009-07-02T04:13:20Z

[Term]
id: HP:0010228
name: Absent epiphyses of the phalanges of the hand
alt_id: HP:0009359
def: "Absence of one or more epiphyses of the phalanges fingers." [HPO:curators]
synonym: "Absent end part of fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent epiphyses of the fingers" EXACT []
xref: UMLS:C4021310
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010577 ! Absent epiphyses
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010229
name: Bracket epiphyses of the phalanges of the hand
alt_id: HP:0009360
def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:probinson]
synonym: "Bracket epiphyses of the fingers" EXACT []
synonym: "Bracket shaped end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021309
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010578 ! Bracket epiphyses
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010230
name: Cone-shaped epiphyses of the phalanges of the hand
alt_id: HP:0001175
alt_id: HP:0001207
alt_id: HP:0001242
alt_id: HP:0003766
alt_id: HP:0005803
alt_id: HP:0009361
def: "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators]
synonym: "Cone-shaped end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses of hand" EXACT []
synonym: "Cone-shaped epiphyses of phalanges" EXACT []
synonym: "Cone-shaped epiphyses of the fingers" EXACT []
synonym: "Cone-shaped phalangeal epiphyses" EXACT []
synonym: "Coned epiphyses" EXACT []
synonym: "Coned epiphyses of hands" EXACT []
synonym: "Conical phalangeal epiphyses" EXACT []
synonym: "Phalangeal cone-shaped epiphyses" EXACT []
xref: UMLS:C1859480
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010579 ! Cone-shaped epiphysis
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010231
name: Enlarged epiphyses of the phalanges of the hand
alt_id: HP:0006023
alt_id: HP:0009362
def: "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators]
synonym: "Enlarged end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged epiphyses of the fingers" EXACT []
synonym: "Enlarged phalangeal epiphyses" EXACT []
xref: UMLS:C1865036
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010580 ! Enlarged epiphyses
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010232
name: Fragmentation of the epiphyses of the phalanges of the hand
alt_id: HP:0009363
def: "Fragmented appearance of the epiphyses of the phalanges of the fingers." [HPO:curators]
synonym: "Fragmentation of end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the epiphyses of the fingers" EXACT []
xref: UMLS:C4021308
is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010233
name: Irregular epiphyses of the phalanges of the hand
alt_id: HP:0009364
def: "Irregular radiographic opacity of the epiphyses of the phalanges of the fingers." [HPO:curators]
synonym: "Irregular end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular epiphyses of the fingers" EXACT []
xref: UMLS:C4021307
is_a: HP:0003842 ! Irregular epiphyses of the upper limbs
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010234
name: Ivory epiphyses of the phalanges of the hand
alt_id: HP:0001210
alt_id: HP:0009365
def: "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators]
synonym: "Increased bone density of end part of the hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Ivory epiphyses of the fingers" EXACT []
synonym: "Sclerotic ivory phalangeal epiphyses" EXACT []
xref: UMLS:C1857651
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010583 ! Ivory epiphyses
is_a: HP:0100899 ! Sclerosis of finger phalanx
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010235
name: Pseudoepiphyses of the phalanges of the hand
alt_id: HP:0009366
def: "A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
synonym: "Pseudoepiphysis of the fingers" EXACT []
xref: UMLS:C4021306
is_a: HP:0004288 ! Pseudoepiphyses of hand bones
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010236
name: Small epiphyses of the phalanges of the hand
alt_id: HP:0009367
def: "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators]
synonym: "Small end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small epiphyses of the fingers" EXACT []
xref: UMLS:C4021305
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010585 ! Small epiphyses
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010237
name: Epiphyseal stippling of finger phalanges
alt_id: HP:0009368
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [HPO:probinson]
synonym: "Speckled calcifications in end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stippling of the epiphyses of the fingers" EXACT []
synonym: "Stippling of the epiphyses of the phalanges of the hand" EXACT []
xref: UMLS:C4021304
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010655 ! Epiphyseal stippling
is_a: HP:0010660 ! Abnormal hand bone ossification
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010238
name: Triangular epiphyses of the phalanges of the hand
alt_id: HP:0009369
def: "A triangular appearance of the epiphyses of the phalanges of the fingers of the hand." [HPO:curators]
synonym: "Delta-shaped epiphyses of the fingers" EXACT []
synonym: "Triangular end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular epiphyses of the fingers" EXACT []
xref: UMLS:C4021303
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0010587 ! Triangular epiphyses
created_by: doelkens
creation_date: 2009-07-06T03:31:52Z

[Term]
id: HP:0010239
name: Aplasia of the middle phalanx of the hand
alt_id: HP:0005778
def: "Absence of one or more middle phalanx of a finger." [HPO:probinson]
synonym: "Absent middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle phalanges" EXACT []
synonym: "Missing middle phalanges" EXACT []
xref: UMLS:C1862096
is_a: HP:0009380 ! Aplasia of the fingers
is_a: HP:0009802 ! Aplasia of the phalanges of the hand
is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T03:59:39Z

[Term]
id: HP:0010241
name: Short proximal phalanx of finger
alt_id: HP:0005670
alt_id: HP:0006138
def: "Congenital hypoplasia of one or more proximal phalanx of finger." [HPO:probinson]
synonym: "Hypoplasia of the proximal phalanges of the hand" EXACT []
synonym: "Short innermost finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short proximal phalanges" EXACT []
synonym: "Short proximal phalanx of finger" EXACT layperson []
synonym: "Shortening in proximal phalanges" EXACT []
xref: UMLS:C1860606
is_a: HP:0009381 ! Short finger
is_a: HP:0009803 ! Short phalanx of finger
is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:00:44Z

[Term]
id: HP:0010242
name: Aplasia of the proximal phalanges of the hand
alt_id: HP:0006102
synonym: "Absent innermost bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent proximal phalanges" EXACT []
xref: UMLS:C4021302
is_a: HP:0009380 ! Aplasia of the fingers
is_a: HP:0009802 ! Aplasia of the phalanges of the hand
is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:01:02Z

[Term]
id: HP:0010243
name: Abnormality of the epiphyses of the distal phalanx of finger
def: "Any anomaly of distal epiphysis of phalanx of finger." [HPO:probinson]
synonym: "Abnormality of the end part of the outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023956
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: doelkens
creation_date: 2009-07-06T04:21:32Z

[Term]
id: HP:0010244
name: Abnormality of the epiphyses of the middle phalanges of the hand
synonym: "Abnormality of the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023955
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-07-06T04:21:32Z

[Term]
id: HP:0010245
name: Abnormality of the epiphyses of the proximal phalanges of the hand
synonym: "Abnormality of the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023954
is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: doelkens
creation_date: 2009-07-06T04:21:32Z

[Term]
id: HP:0010246
name: Absent epiphyses of the distal phalanges of the hand
synonym: "Absent end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023953
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010247
name: Bracket epiphyses of the distal phalanges of the hand
def: "An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023952
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010248
name: Cone-shaped epiphyses of the distal phalanges of the hand
synonym: "Cone-shaped end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023951
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010249
name: Enlarged epiphyses of the distal phalanges of the hand
synonym: "Enlarged end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023950
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010250
name: Fragmentation of the epiphyses of the distal phalanges of the hand
synonym: "Fragmentation of the end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023949
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010251
name: Irregular epiphyses of the distal phalanges of the hand
synonym: "Irregular end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023948
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010252
name: Ivory epiphyses of the distal phalanges of the hand
alt_id: HP:0006105
def: "Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Eburnated epiphyses of distal phalanges" EXACT []
synonym: "Increased bone density of end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021301
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010253
name: Pseudoepiphyses of the distal phalanges of the hand
def: "A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." []
xref: UMLS:C4023947
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010254
name: Small epiphyses of the distal phalanges of the hand
synonym: "Small end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023946
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010255
name: Stippling of the epiphyses of the distal phalanges of the hand
synonym: "Speckled calcifications in the end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023945
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010256
name: Triangular epiphyses of the distal phalanges of the hand
synonym: "Triangular end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023944
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger
created_by: doelkens
creation_date: 2009-07-06T04:23:06Z

[Term]
id: HP:0010257
name: Absent epiphyses of the middle phalanges of the hand
synonym: "Absent end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023943
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010258
name: Bracket epiphyses of the middle phalanges of the hand
def: "An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators]
synonym: "Bracket shaped end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023942
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010259
name: Cone-shaped epiphyses of the middle phalanges of the hand
alt_id: HP:0006033
alt_id: HP:0006058
synonym: "Cone-shaped end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses of middle phalanges" EXACT []
xref: UMLS:C1860828
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010260
name: Enlarged epiphyses of the middle phalanges of the hand
synonym: "Enlarged end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023941
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010261
name: Fragmentation of the epiphyses of the middle phalanges of the hand
def: "Fragmented appearance of the epiphyses of the middle phalanges of the hand." [HPO:curators]
synonym: "Fragmentation of the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023940
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010262
name: Irregular epiphyses of the middle phalanges of the hand
synonym: "Irregular end part of middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023939
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010263
name: Ivory epiphyses of the middle phalanges of the hand
def: "Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Increased bone density of end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023938
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010264
name: Pseudoepiphyses of the middle phalanges of the hand
def: "A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." []
xref: UMLS:C4023937
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010265
name: Small epiphyses of the middle phalanges of the hand
synonym: "Small end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023936
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010266
name: Stippling of the epiphyses of the middle phalanges of the hand
synonym: "Speckled calcifications in the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023935
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010267
name: Triangular epiphyses of the middle phalanges of the hand
synonym: "Triangular end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023934
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:24:15Z

[Term]
id: HP:0010268
name: Absent epiphyses of the proximal phalanges of the hand
synonym: "Absent end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023933
is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010269
name: Bracket epiphyses of the proximal phalanges of the hand
def: "An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [ORCID:0000-0001-7941-2961]
synonym: "Bracket shaped end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023932
is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010270
name: Cone-shaped epiphyses of the proximal phalanges of the hand
synonym: "Cone-shaped end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023931
is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010271
name: Enlarged epiphyses of the proximal phalanges of the hand
synonym: "Enlarged end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023930
is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010272
name: Fragmentation of the epiphyses of the proximal phalanges of the hand
synonym: "Fragmentation of the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023929
is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010273
name: Irregular epiphyses of the proximal phalanges of the hand
synonym: "Irregular end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023928
is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010274
name: Ivory epiphyses of the proximal phalanges of the hand
def: "Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Increased bone density of end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023927
is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010275
name: Pseudoepiphyses of the proximal phalanges of the hand
def: "A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators]
xref: UMLS:C4023926
is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010276
name: Small epiphyses of the proximal phalanges of the hand
synonym: "Small end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023925
is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010277
name: Stippling of the epiphyses of the proximal phalanges of the hand
synonym: "Speckled calcifications in the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023924
is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010278
name: Triangular epiphyses of the proximal phalanges of the hand
synonym: "Triangular end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023923
is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand
is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand
created_by: doelkens
creation_date: 2009-07-06T04:25:12Z

[Term]
id: HP:0010280
name: Stomatitis
def: "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:probinson]
subset: hposlim_core
synonym: "Gingivostomatitis" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Inflammation of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D013280
xref: SNOMEDCT_US:20607006
xref: SNOMEDCT_US:61170000
xref: UMLS:C0038362
xref: UMLS:C0149704
is_a: HP:0011830 ! Abnormal oral mucosa morphology
is_a: HP:0012649 ! Increased inflammatory response
created_by: peter
creation_date: 2009-07-12T09:48:56Z

[Term]
id: HP:0010281
name: Cleft lower lip
def: "A gap in the lower lip." [HPO:probinson]
subset: hposlim_core
synonym: "Cleft lower lip" EXACT layperson []
synonym: "Cleft of the lower lip" EXACT layperson []
synonym: "Lower labial cleft" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856026
is_a: HP:0000178 ! Abnormality of lower lip
is_a: HP:0410030 ! Cleft lip
created_by: peter
creation_date: 2009-07-12T09:50:34Z

[Term]
id: HP:0010282
name: Thin lower lip vermilion
def: "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective)." [pmid:19125428]
comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual.
synonym: "Decreased height of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of lower lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased volume of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thin lower lip" EXACT layperson []
synonym: "Thin red part of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin vermilion border of lower lip" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C2053440
is_a: HP:0000178 ! Abnormality of lower lip
is_a: HP:0000233 ! Thin vermilion border
created_by: peter
creation_date: 2009-07-12T10:17:22Z

[Term]
id: HP:0010284
name: Intra-oral hyperpigmentation
def: "Increased pigmentation, either focal or generalized, of the mucosa of the mouth." [pmid:19125428]
comment: Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation.
subset: hposlim_core
synonym: "Dark color of gums" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Gingival hyperpigmentation" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Gingival melanin pigmentation" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hyperpigmentation of oral mucosa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral mucosa melanin pigmentation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral racial pigmentation" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pigmented gums" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:235038002
xref: UMLS:C0399483
xref: UMLS:C0877541
xref: UMLS:C4280387
xref: UMLS:C4280388
xref: UMLS:C4280389
is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa
created_by: peter
creation_date: 2009-07-12T10:33:11Z

[Term]
id: HP:0010285
name: Oral synechia
def: "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges." [pmid:19125428]
comment: These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead.
subset: hposlim_core
synonym: "Oral fibrous bands" BROAD []
synonym: "Synechiae of the mouth" EXACT []
xref: UMLS:C4023921
is_a: HP:0011830 ! Abnormal oral mucosa morphology
created_by: peter
creation_date: 2009-07-12T10:37:03Z

[Term]
id: HP:0010286
name: Abnormal salivary gland morphology
def: "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the salivary glands" EXACT layperson []
synonym: "Salivary gland disease" RELATED layperson []
xref: MSH:D012466
xref: SNOMEDCT_US:10890000
xref: UMLS:C0036093
xref: UMLS:C0149772
is_a: HP:0000163 ! Abnormal oral cavity morphology
created_by: peter
creation_date: 2009-07-12T10:38:51Z

[Term]
id: HP:0010287
name: Abnormality of the submandibular glands
def: "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles." [HPO:curators]
synonym: "Abnormality of the submaxillary glands" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023920
is_a: HP:0010286 ! Abnormal salivary gland morphology
created_by: peter
creation_date: 2009-07-12T10:41:17Z

[Term]
id: HP:0010288
name: Abnormality of the sublingual glands
def: "Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands." [HPO:curators]
xref: UMLS:C4023919
is_a: HP:0010286 ! Abnormal salivary gland morphology
created_by: peter
creation_date: 2009-07-12T10:42:35Z

[Term]
id: HP:0010289
name: Cleft of alveolar ridge of maxilla
def: "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth." [HPO:mengelstad, HPO:probinson]
subset: hposlim_core
synonym: "Alveolar ridge cleft" EXACT []
synonym: "Cleft of alveolar process" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Cleft of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Notch of alveolar process" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Notch of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Notch of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:445306000
xref: UMLS:C1398533
xref: UMLS:C2919907
xref: UMLS:C4280386
is_a: HP:0410005 ! Cleft hard palate
created_by: peter
creation_date: 2009-07-12T10:47:29Z

[Term]
id: HP:0010290
name: Short hard palate
def: "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective)." [pmid:19125428]
comment: Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence.
synonym: "Decreased length of hard palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic palate" RELATED []
synonym: "Short palate" RELATED []
xref: UMLS:C1398301
xref: UMLS:C4020772
xref: UMLS:C4023918
is_a: HP:0100737 ! Abnormal hard palate morphology
created_by: peter
creation_date: 2009-07-12T11:28:44Z

[Term]
id: HP:0010291
name: Prominent palatine ridges
def: "Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge." [pmid:19125428]
comment: Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly.
subset: hposlim_core
synonym: "Large lateral palatal folds" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large lateral palatal ridges" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent lateral palatal folds" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent lateral palatal ridges" EXACT []
synonym: "Prominent palatine folds" EXACT []
xref: UMLS:C4021300
is_a: HP:0000174 ! Abnormal palate morphology
created_by: peter
creation_date: 2009-07-12T11:33:40Z

[Term]
id: HP:0010292
name: Absent uvula
def: "Lack of the uvula." [pmid:19125428]
comment: Sometimes accompanies a Submucous cleft palate, but this should be coded separately.
subset: hposlim_core
synonym: "Absent palatine uvula" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of uvula" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Congenital absence of uvula" EXACT []
synonym: "Missing uvula" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Uvula aplasia" EXACT []
xref: SNOMEDCT_US:25148007
xref: UMLS:C0266121
is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula
created_by: peter
creation_date: 2009-07-12T11:36:21Z

[Term]
id: HP:0010293
name: Aplasia/Hypoplasia of the uvula
def: "Underdevelopment or absence of the uvula." [HPO:curators]
synonym: "Aplasia/hypoplasia of palatine uvula" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023917
is_a: HP:0000172 ! Abnormality of the uvula
created_by: peter
creation_date: 2009-07-12T11:36:52Z

[Term]
id: HP:0010294
name: Palate fistula
def: "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate." [HPO:probinson]
synonym: "Hole in roof of mouth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Palatal hole" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Palatal perforation" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C2032780
xref: UMLS:C4280385
is_a: HP:0000174 ! Abnormal palate morphology
created_by: peter
creation_date: 2009-07-12T11:39:52Z

[Term]
id: HP:0010295
name: Aplasia/Hypoplasia of the tongue
def: "Absence or underdevelopment of the tongue." [HPO:curators]
synonym: "Lingual aplasia/hypoplasia" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023916
xref: UMLS:C4280384
is_a: HP:0030809 ! Abnormal tongue morphology
created_by: peter
creation_date: 2009-07-12T11:41:04Z

[Term]
id: HP:0010296
name: Ankyloglossia
def: "Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue." [pmid:19125428]
comment: The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue.
synonym: "Tongue tie" RELATED []
synonym: "Tongue tied" EXACT layperson []
xref: MSH:D000072676
xref: SNOMEDCT_US:67787004
xref: UMLS:C0152415
is_a: HP:0000190 ! Abnormal oral frenulum morphology
is_a: HP:0030809 ! Abnormal tongue morphology
created_by: peter
creation_date: 2009-07-12T11:44:22Z

[Term]
id: HP:0010297
name: Bifid tongue
def: "Tongue with a median apical indentation or fork." [pmid:19125428]
comment: Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue.
subset: hposlim_core
synonym: "Bifurcated tongue" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Forked tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Snake tongue" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Split tongue" EXACT layperson []
xref: SNOMEDCT_US:84557007
xref: UMLS:C0266111
xref: UMLS:C4255098
is_a: HP:0030809 ! Abnormal tongue morphology
created_by: peter
creation_date: 2009-07-12T11:47:28Z

[Term]
id: HP:0010298
name: Smooth tongue
def: "Glossy appearance of the entire tongue surface." [pmid:19125428]
comment: This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue.
subset: hposlim_core
synonym: "Atrophy of dorsum of tongue" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Atrophy of lingual surface" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Atrophy of tongue surface" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Smooth dorsum of tongue" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Smooth lingual surface" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Smooth surface of tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Smooth tongue" EXACT layperson []
xref: SNOMEDCT_US:9491003
xref: UMLS:C0155964
xref: UMLS:C4280381
xref: UMLS:C4280382
xref: UMLS:C4280383
is_a: HP:0030809 ! Abnormal tongue morphology
created_by: peter
creation_date: 2009-07-12T11:58:17Z

[Term]
id: HP:0010299
name: Abnormality of dentin
def: "Any abnormality of dentin." [HPO:probinson]
comment: Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp.
subset: hposlim_core
synonym: "Abnormal dentin" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of dentin" EXACT layperson []
synonym: "Abnormality of dentine" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021299
is_a: HP:0011061 ! Abnormality of dental structure
created_by: peter
creation_date: 2009-07-12T12:11:14Z

[Term]
id: HP:0010300
name: Abnormally low-pitched voice
def: "An abnormally low-pitched voice." [HPO:curators]
xref: UMLS:C4023915
is_a: HP:0001608 ! Abnormality of the voice
created_by: peter
creation_date: 2009-07-12T12:19:22Z

[Term]
id: HP:0010301
name: Spinal dysraphism
def: "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [HPO:probinson]
comment: Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta.
synonym: "Incomplete closure of the vertebral arch" EXACT [HPO:sdoelken]
xref: MSH:D009436
xref: SNOMEDCT_US:253098009
xref: UMLS:C0027794
is_a: HP:0002143 ! Abnormality of the spinal cord
is_a: HP:0045005 ! Neural tube defect
created_by: peter
creation_date: 2009-07-12T12:58:04Z

[Term]
id: HP:0010302
name: Spinal cord tumor
alt_id: HP:0009712
def: "A neoplasm affecting the spinal cord." [HPO:probinson]
synonym: "Spinal cord tumor" EXACT layperson []
synonym: "Spinal tumor" RELATED layperson []
synonym: "Spinal tumors" RELATED layperson [HPO:skoehler]
synonym: "Tumor of the spinal cord" EXACT layperson []
xref: MSH:D013120
xref: NCIT:C3262
xref: SNOMEDCT_US:126962006
xref: UMLS:C0037930
is_a: HP:0002143 ! Abnormality of the spinal cord
is_a: HP:0100006 ! Neoplasm of the central nervous system
created_by: peter
creation_date: 2009-07-12T01:05:50Z

[Term]
id: HP:0010303
name: Abnormal spinal meningeal morphology
def: "Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord." [HPO:probinson]
synonym: "Abnormality of the spinal meninges" EXACT []
xref: UMLS:C4023914
is_a: HP:0002143 ! Abnormality of the spinal cord
is_a: HP:0010651 ! Abnormal meningeal morphology
created_by: peter
creation_date: 2009-07-12T01:10:09Z

[Term]
id: HP:0010304
name: Spinal meningeal diverticulum
def: "An outpouching of the spinal meninges." [HPO:curators]
xref: UMLS:C4023913
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
created_by: peter
creation_date: 2009-07-12T01:11:53Z

[Term]
id: HP:0010305
name: Absence of the sacrum
def: "Absence (aplasia) of the sacrum." [HPO:probinson]
subset: hposlim_core
synonym: "Absent sacrum" EXACT []
synonym: "Sacral agenesis" EXACT []
synonym: "Sacrococcygeal agenesis" BROAD []
xref: MSH:C537221
xref: SNOMEDCT_US:205425003
xref: UMLS:C0344490
is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum
created_by: peter
creation_date: 2009-07-12T01:13:26Z

[Term]
id: HP:0010306
name: Short thorax
def: "Reduced inferior to superior extent of the thorax." [HPO:curators]
synonym: "Shorter than typical length between neck and abdomen" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:249670005
xref: UMLS:C0426789
is_a: HP:0000765 ! Abnormality of the thorax
created_by: peter
creation_date: 2009-07-12T02:13:42Z

[Term]
id: HP:0010307
name: Stridor
def: "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:probinson, PMID:26229557]
comment: Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract.
synonym: "Noisy breathing" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012135
xref: SNOMEDCT_US:248573009
xref: SNOMEDCT_US:70407001
xref: UMLS:C0038450
xref: UMLS:C0237304
is_a: HP:0030829 ! Abnormal breath sound
created_by: peter
creation_date: 2009-07-12T02:16:48Z

[Term]
id: HP:0010308
name: Asternia
def: "The congenital absence of the sternum." [HPO:curators]
xref: UMLS:C4023912
is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum
created_by: peter
creation_date: 2009-07-12T02:21:46Z

[Term]
id: HP:0010309
name: Bifid sternum
def: "The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum." [HPO:probinson]
comment: Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form.
subset: hposlim_core
synonym: "Sternal cleft" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:54008006
xref: UMLS:C0265696
is_a: HP:0000766 ! Abnormality of the sternum
created_by: peter
creation_date: 2009-07-12T02:23:18Z

[Term]
id: HP:0010310
name: Chylothorax
def: "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators]
xref: MSH:D002916
xref: SNOMEDCT_US:83035003
xref: UMLS:C0008733
is_a: HP:0002202 ! Pleural effusion
created_by: peter
creation_date: 2009-07-12T02:30:05Z

[Term]
id: HP:0010311
name: Aplasia/Hypoplasia of the breasts
def: "Absence or underdevelopment of the breasts." [HPO:curators]
synonym: "Absent/small breasts" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped breasts" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023911
is_a: HP:0031093 ! Abnormal breast morphology
created_by: peter
creation_date: 2009-07-12T02:31:49Z

[Term]
id: HP:0010312
name: Asymmetry of the breasts
def: "The presence of asymmetrical breasts." [HPO:probinson]
subset: hposlim_core
xref: MSH:C565299
xref: UMLS:C1854013
is_a: HP:0031093 ! Abnormal breast morphology
created_by: peter
creation_date: 2009-07-12T02:32:46Z

[Term]
id: HP:0010313
name: Breast hypertrophy
def: "The presence of hypertrophy of the breast." [HPO:probinson]
subset: hposlim_core
synonym: "Gigantomastia" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Hypertrophy of the breasts" EXACT []
synonym: "Macromastia" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:C536821
xref: SNOMEDCT_US:372281005
xref: SNOMEDCT_US:372283008
xref: SNOMEDCT_US:372285001
xref: UMLS:C0020565
xref: UMLS:C0392533
xref: UMLS:C2225524
is_a: HP:0031093 ! Abnormal breast morphology
created_by: peter
creation_date: 2009-07-12T02:34:30Z

[Term]
id: HP:0010314
name: Premature thelarche
def: "Premature development of the breasts." [HPO:probinson]
synonym: "Premature breast development" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:102889008
xref: UMLS:C0425772
is_a: HP:0000826 ! Precocious puberty
created_by: peter
creation_date: 2009-07-12T02:36:24Z

[Term]
id: HP:0010315
name: Aplasia/Hypoplasia of the diaphragm
def: "Absence or underdevelopment of the diaphragm." [HPO:curators]
synonym: "Absent/small diaprhagm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped diaprhagm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023910
is_a: HP:0000775 ! Abnormality of the diaphragm
created_by: peter
creation_date: 2009-07-12T02:41:58Z

[Term]
id: HP:0010316
name: Ebstein anomaly of the tricuspid valve
alt_id: HP:0006674
def: "Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet." [DDD:dbrown, HPO:probinson]
comment: Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias.
synonym: "Ebstein's anomaly" EXACT []
synonym: "Ebstein's anomaly of the tricuspid valve" EXACT []
synonym: "Ebstein's malformation" EXACT []
xref: EPCC:06.01.34
xref: ICD-10:Q22.5
xref: MSH:D004437
xref: SNOMEDCT_US:204357006
xref: UMLS:C0013481
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
created_by: peter
creation_date: 2009-07-14T11:12:07Z

[Term]
id: HP:0010317
name: Scapular aplasia
def: "Absence of the scapulae." [HPO:probinson]
subset: hposlim_core
synonym: "Absent scapula" EXACT []
synonym: "Absent shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021298
is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae
created_by: peter
creation_date: 2009-07-14T11:40:24Z

[Term]
id: HP:0010318
name: Aplasia/Hypoplasia of the abdominal wall musculature
def: "Absence or underdevelopment of the abdominal musculature." [HPO:curators]
synonym: "Absent/small abdominal wall muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped abdominal wall muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023909
is_a: HP:0010991 ! Abnormality of the abdominal musculature
created_by: peter
creation_date: 2009-07-14T11:51:46Z

[Term]
id: HP:0010319
name: Abnormality of the 2nd toe
def: "An anomaly of the second toe." [HPO:probinson]
xref: UMLS:C4023908
is_a: HP:0001780 ! Abnormality of toe
created_by: doelkens
creation_date: 2009-07-16T11:37:12Z

[Term]
id: HP:0010320
name: Abnormality of the 3rd toe
def: "An anomaly of the third toe." [HPO:probinson]
synonym: "Abnormality of the 3rd toe" EXACT layperson []
xref: UMLS:C4023907
is_a: HP:0001780 ! Abnormality of toe
created_by: doelkens
creation_date: 2009-07-16T11:37:12Z

[Term]
id: HP:0010321
name: Abnormality of the 4th toe
def: "An anomaly of the fourth toe." [HPO:probinson]
synonym: "Abnormality of the 4th toe" EXACT layperson []
xref: UMLS:C4023906
is_a: HP:0001780 ! Abnormality of toe
created_by: doelkens
creation_date: 2009-07-16T11:37:12Z

[Term]
id: HP:0010322
name: Abnormality of the 5th toe
def: "An anomaly of the little toe." [HPO:probinson]
synonym: "Abnormality of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023905
is_a: HP:0001780 ! Abnormality of toe
created_by: doelkens
creation_date: 2009-07-16T11:37:12Z

[Term]
id: HP:0010323
name: Abnormality of the epiphyses of the 2nd toe
synonym: "Abnormality of the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023904
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010319 ! Abnormality of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010324
name: Abnormality of phalanx of the 2nd toe
def: "An anomaly of a phalanx of second toe." [HPO:sdoelken]
synonym: "Abnormality of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023903
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
is_a: HP:0010319 ! Abnormality of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010325
name: Aplasia/Hypoplasia of the 2nd toe
synonym: "Absent/small 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023902
is_a: HP:0010319 ! Abnormality of the 2nd toe
is_a: HP:0010760 ! Absent toe
created_by: doelkens
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010326
name: Deviation of the 2nd toe
synonym: "Displacement of the 2nd toe" EXACT layperson []
xref: UMLS:C4021297
is_a: HP:0010319 ! Abnormality of the 2nd toe
is_a: HP:0100498 ! Deviation of toes
created_by: doelkens
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010327
name: Flexion contracture of the 2nd toe
def: "One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively." [HPO:probinson]
synonym: "Joint contractures of the 2nd toe" EXACT []
xref: UMLS:C4021296
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0010319 ! Abnormality of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010328
name: Polydactyly affecting the 2nd toe
xref: UMLS:C4023901
is_a: HP:0010112 ! Mesoaxial foot polydactyly
is_a: HP:0010319 ! Abnormality of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:40:18Z

[Term]
id: HP:0010329
name: Abnormality of the epiphyses of the 3rd toe
synonym: "Abnormality of the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023900
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010320 ! Abnormality of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010330
name: Abnormality of the phalanges of the 3rd toe
synonym: "Abnormality of the bones of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023899
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
is_a: HP:0010320 ! Abnormality of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010331
name: Aplasia/Hypoplasia of the 3rd toe
alt_id: HP:0008100
synonym: "Absent/hypoplastic third toe" EXACT []
synonym: "Absent/small 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1862698
is_a: HP:0010320 ! Abnormality of the 3rd toe
is_a: HP:0010760 ! Absent toe
created_by: doelkens
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010332
name: Deviation of the 3rd toe
synonym: "Displacement of the 3rd toe" EXACT layperson []
xref: UMLS:C4021295
is_a: HP:0010320 ! Abnormality of the 3rd toe
is_a: HP:0100498 ! Deviation of toes
created_by: doelkens
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010333
name: Flexion contracture of 3rd toe
def: "One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively." [HPO:probinson]
synonym: "Joint contractures of the 3rd toe" EXACT []
xref: UMLS:C4021294
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0010320 ! Abnormality of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010334
name: Polydactyly affecting the 3rd toe
xref: UMLS:C4023898
is_a: HP:0010112 ! Mesoaxial foot polydactyly
is_a: HP:0010320 ! Abnormality of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:40:52Z

[Term]
id: HP:0010335
name: Abnormality of the epiphyses of the 4th toe
synonym: "Abnormality of the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023897
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010321 ! Abnormality of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010336
name: Abnormality of the phalanges of the 4th toe
xref: UMLS:C4023896
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
is_a: HP:0010321 ! Abnormality of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010337
name: Aplasia/Hypoplasia of the 4th toe
synonym: "Absent/small 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023895
is_a: HP:0010321 ! Abnormality of the 4th toe
is_a: HP:0010760 ! Absent toe
created_by: doelkens
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010338
name: Deviation of the 4th toe
synonym: "Displacement of the 4th toe" EXACT []
xref: UMLS:C4021293
is_a: HP:0010321 ! Abnormality of the 4th toe
is_a: HP:0100498 ! Deviation of toes
created_by: doelkens
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010339
name: Flexion contracture of the 4th toe
def: "One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively." [HPO:probinson]
synonym: "Joint contractures of the 4th toe" EXACT []
xref: UMLS:C4021292
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0010321 ! Abnormality of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010340
name: Polydactyly affecting the 4th toe
xref: UMLS:C4023894
is_a: HP:0010112 ! Mesoaxial foot polydactyly
is_a: HP:0010321 ! Abnormality of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:41:21Z

[Term]
id: HP:0010341
name: Abnormality of the epiphyses of the 5th toe
synonym: "Abnormality of the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023893
is_a: HP:0010160 ! Abnormality of the epiphyses of the toes
is_a: HP:0010322 ! Abnormality of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010342
name: Abnormality of the phalanges of the 5th toe
synonym: "Abnormality of the little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023892
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
is_a: HP:0010322 ! Abnormality of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010343
name: Aplasia/Hypoplasia of the 5th toe
synonym: "Absent/small little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small pinky toe" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023891
is_a: HP:0010322 ! Abnormality of the 5th toe
is_a: HP:0010760 ! Absent toe
created_by: doelkens
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010344
name: Deviation of the 5th toe
synonym: "Displacement of the 5th toe" EXACT []
synonym: "Displacement of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Displacement of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Displacement of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021291
is_a: HP:0010322 ! Abnormality of the 5th toe
is_a: HP:0100498 ! Deviation of toes
created_by: doelkens
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010345
name: Flexion contracture of the 5th toe
def: "One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively." [HPO:probinson]
synonym: "Joint contractures of the 5th toe" EXACT layperson []
xref: UMLS:C4021290
is_a: HP:0005830 ! Flexion contracture of toe
is_a: HP:0010322 ! Abnormality of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:41:49Z

[Term]
id: HP:0010347
name: Aplasia/Hypoplasia of the phalanges of the 2nd toe
synonym: "Absent/small bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023890
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010348
name: Broad phalanges of the 2nd toe
synonym: "Broad bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023889
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010349
name: Bullet-shaped 2nd toe phalanx
def: "An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the 2nd toe" EXACT []
xref: UMLS:C4021289
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010350
name: Curved 2nd toe phalanx
def: "A deviation from the normal straight form of one or more phalanges of the second toe." [HPO:probinson]
synonym: "Curved bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved phalanges of the 2nd toe" EXACT layperson []
xref: UMLS:C4021288
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010351
name: Osteolytic defects of the phalanges of the 2nd toe
xref: UMLS:C4023888
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010352
name: Patchy sclerosis of 2nd toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the 2nd toe" EXACT []
synonym: "Uneven increase in bone density in 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021287
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010353
name: Symphalangism affecting the phalanges of the 2nd toe
def: "Fusion of the interphalangeal joints of the 2nd toe." [HPO:probinson]
synonym: "Fused bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023887
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
is_a: HP:0100235 ! Synostosis involving bones of the toes
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010354
name: Triangular shaped phalanges of the 2nd toe
synonym: "Triangular shaped bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped bone of second toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023886
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010355
name: Duplication of the phalanges of the 2nd toe
def: "Partial or complete duplication of a phalanx of second toe." [HPO:sdoelken]
synonym: "Duplication of the bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the phalanges of the 2nd toe" EXACT []
xref: UMLS:C4021286
is_a: HP:0010181 ! Duplication of phalanx of toe
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010356
name: Abnormality of the distal phalanx of the 2nd toe
synonym: "Abnormality of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023885
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010357
name: Abnormality of the middle phalanx of the 2nd toe
synonym: "Abnormality of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023884
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010358
name: Abnormality of the proximal phalanx of the 2nd toe
synonym: "Abnormality of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023883
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:45:34Z

[Term]
id: HP:0010359
name: Aplasia/Hypoplasia of the phalanges of the 3rd toe
synonym: "Absent/small bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023882
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010360
name: Broad phalanges of the 3rd toe
synonym: "Wide bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023881
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010361
name: Bullet-shaped 3rd toe phalanx
def: "An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the 3rd toe" EXACT []
xref: UMLS:C4021285
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010362
name: Curved 3rd toe phalanx
def: "A deviation from the normal straight form of one or more phalanges of the third toe." [HPO:probinson]
synonym: "Curved bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved phalanges of the 3rd toe" EXACT layperson []
xref: UMLS:C4021284
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010363
name: Osteolytic defects of the phalanges of the 3rd toe
xref: UMLS:C4021825
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010364
name: Patchy sclerosis of 3rd toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the 3rd toe" EXACT []
synonym: "Uneven increase in bone density in 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021283
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010365
name: Symphalangism affecting the phalanges of the 3rd toe
synonym: "Fused bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023880
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
is_a: HP:0100235 ! Synostosis involving bones of the toes
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010366
name: Triangular shaped phalanges of the 3rd toe
synonym: "Triangular shaped 3rd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023879
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010367
name: Duplication of phalanx of the 3rd toe
def: "Partial or complete duplication of phalanx of third toe." [HPO:sdoelken]
synonym: "Duplication of 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of phalanx of the third toe" EXACT []
synonym: "Partial/complete duplication of the phalanges of the 3rd toe" EXACT []
xref: UMLS:C4021282
is_a: HP:0010181 ! Duplication of phalanx of toe
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010368
name: Abnormality of the distal phalanx of the 3rd toe
synonym: "Abnormality of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023878
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010369
name: Abnormality of the middle phalanx of the 3rd toe
synonym: "Abnormality of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023877
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010370
name: Abnormality of the proximal phalanx of the 3rd toe
def: "An anomaly of the proximal phalanx of third toe." [HPO:probinson]
synonym: "Abnormality of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023876
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe
created_by: doelkens
creation_date: 2009-07-16T11:51:17Z

[Term]
id: HP:0010371
name: Aplasia/Hypoplasia of the phalanges of the 4th toe
synonym: "Absent/small bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023875
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010372
name: Broad phalanges of the 4th toe
synonym: "Broad bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023874
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010373
name: Bullet-shaped 4th toe phalanx
def: "An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the 4th toe" EXACT []
xref: UMLS:C4021281
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010374
name: Curved 4th toe phalanx
def: "A deviation from the normal straight form of one or more phalanges of the fourth toe." [HPO:probinson]
synonym: "Curved bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved phalanges of the 4th toe" EXACT []
xref: UMLS:C4021280
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010375
name: Osteolytic defects of the phalanges of the 4th toe
xref: UMLS:C4023873
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010376
name: Patchy sclerosis of 4th toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the 4th toe" EXACT layperson []
synonym: "Uneven increase in bone density in 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021279
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
is_a: HP:0100928 ! Sclerosis of 4th toe phalanx
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010377
name: Symphalangism affecting the phalanges of the 4th toe
synonym: "Fused bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023872
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
is_a: HP:0100235 ! Synostosis involving bones of the toes
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010378
name: Triangular shaped phalanges of the 4th toe
synonym: "Triangular shaped bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023871
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010379
name: Duplication of phalanx of the 4th toe
def: "Partial or complete duplication of phalanx of fourth toe." [HPO:probinson]
synonym: "Duplication of 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of phalanx of the fourth toe" EXACT []
synonym: "Partial/complete duplication of the phalanges of the 4th toe" EXACT []
xref: UMLS:C4021278
is_a: HP:0010181 ! Duplication of phalanx of toe
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010380
name: Abnormality of the distal phalanx of the 4th toe
synonym: "Abnormality of the outermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023870
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010381
name: Abnormality of the middle phalanx of the 4th toe
synonym: "Abnormality of middle 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023869
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010382
name: Abnormality of the proximal phalanx of the 4th toe
synonym: "Abnormal innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023868
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe
created_by: doelkens
creation_date: 2009-07-16T11:51:46Z

[Term]
id: HP:0010383
name: Aplasia/Hypoplasia of the phalanges of the 5th toe
synonym: "Absent/small little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small pinky toe bones" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023867
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010384
name: Broad phalanges of the 5th toe
synonym: "Broad bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023866
is_a: HP:0010174 ! Broad phalanx of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010385
name: Bullet-shaped 5th toe phalanx
def: "An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped phalanges of the 5th toe" EXACT []
xref: UMLS:C4021277
is_a: HP:0010175 ! Bullet-shaped toe phalanx
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010386
name: Curved 5th toe phalanx
def: "A deviation from the normal straight form of one or more phalanges of the fifth toe." [HPO:probinson]
synonym: "Curved little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved phalanges of the 5th toe" EXACT []
synonym: "Curved pinkie toe bones" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Curved pinky toe bones" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021276
is_a: HP:0010176 ! Curved toe phalanx
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010387
name: Osteolytic defects of the phalanges of the 5th toe
xref: UMLS:C4023865
is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010388
name: Patchy sclerosis of 5th toe phalanx
def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Patchy sclerosis of the phalanges of the 5th toe" EXACT []
synonym: "Uneven increase in bone density in little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021275
is_a: HP:0010178 ! Patchy sclerosis of toe phalanx
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
is_a: HP:0100929 ! Sclerosis of 5th toe phalanx
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010389
name: Symphalangism affecting the phalanges of the 5th toe
synonym: "Fused bones in the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused bones in the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused bones in the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023864
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
is_a: HP:0100235 ! Synostosis involving bones of the toes
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010390
name: Triangular shaped phalanges of the 5th toe
synonym: "Triangular shaped little toe bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Triangular shaped pinkie toe bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Triangular shaped pinky toe bone" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023863
is_a: HP:0010180 ! Triangular shaped phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010391
name: Duplication of the phalanges of the 5th toe
def: "Partial or complete duplication of one or more phalanx of little toe." [HPO:probinson]
synonym: "Duplication of the bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the phalanges of the fifth toe" EXACT []
synonym: "Partial/complete duplication of the phalanges of the 5th toe" EXACT []
xref: UMLS:C4020903
is_a: HP:0010181 ! Duplication of phalanx of toe
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010392
name: Abnormality of the distal phalanx of the 5th toe
synonym: "Abnormality of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023862
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010393
name: Abnormality of the middle phalanx of the 5th toe
synonym: "Abnormality of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023861
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010394
name: Abnormality of the proximal phalanx of the 5th toe
synonym: "Abnormality of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023860
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe
created_by: doelkens
creation_date: 2009-07-16T11:52:18Z

[Term]
id: HP:0010395
name: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe." [HPO:probinson]
synonym: "Absent/small innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023859
is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010396
name: Broad proximal phalanx of the 2nd toe
synonym: "Broad innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023858
is_a: HP:0010204 ! Broad proximal phalanx of toe
is_a: HP:0010348 ! Broad phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010397
name: Bullet-shaped proximal phalanx of the 2nd toe
def: "An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023857
is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx
is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010398
name: Curved proximal phalanx of the 2nd toe
def: "A deviation from the normal straight form of the proximal phalanx of the 2nd toe." [HPO:probinson]
synonym: "Curved innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023856
is_a: HP:0010206 ! Curved proximal toe phalanx
is_a: HP:0010350 ! Curved 2nd toe phalanx
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010399
name: Osteolytic defects of the proximal phalanx of the 2nd toe
xref: UMLS:C4023855
is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010400
name: Patchy sclerosis of the proximal phalanx of the 2nd toe
synonym: "Uneven increase in bone density in the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023854
is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx
is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
is_a: HP:0100931 ! Sclerosis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010401
name: Symphalangism affecting the proximal phalanx of the 2nd toe
synonym: "Fused innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023853
is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010402
name: Triangular shaped proximal phalanx of the 2nd toe
synonym: "Triangular shaped innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023852
is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010403
name: Duplication of the proximal phalanx of the 2nd toe
def: "Partial or complete duplication of proximal phalanx of second toe." [HPO:sdoelken]
synonym: "Duplication of innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the proximal phalanx of the second toe" EXACT []
synonym: "Partial/complete duplication of the proximal phalanx of the 2nd toe" EXACT []
xref: UMLS:C4021274
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T11:58:15Z

[Term]
id: HP:0010404
name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
synonym: "Absent/small middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023851
is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010405
name: Broad middle phalanx of the 2nd toe
synonym: "Broad middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023850
is_a: HP:0010195 ! Broad middle phalanges of the toes
is_a: HP:0010348 ! Broad phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010406
name: Bullet-shaped middle phalanx of the 2nd toe
def: "An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023849
is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010407
name: Curved middle phalanx of the 2nd toe
def: "A deviation from the normal straight form of the middle phalanx of the 2nd toe." [HPO:probinson]
synonym: "Curved middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023848
is_a: HP:0010197 ! Curved middle toe phalanx
is_a: HP:0010350 ! Curved 2nd toe phalanx
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010408
name: Osteolytic defects of the middle phalanx of the 2nd toe
xref: UMLS:C4023847
is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010409
name: Patchy sclerosis of the middle phalanx of the 2nd toe
synonym: "Uneven increase in bone density in the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023846
is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx
is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
is_a: HP:0100935 ! Sclerosis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010410
name: Symphalangism affecting the middle phalanx of the 2nd toe
synonym: "Fused middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023845
is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010411
name: Triangular shaped middle phalanx of the 2nd toe
synonym: "Triangular shaped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023844
is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010412
name: Duplication of the middle phalanx of the 2nd toe
def: "Partial or complete duplication of middle phalanx of second toe." [HPO:sdoelken]
synonym: "Duplication of middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the middle phalanx of the 2nd toe" EXACT []
xref: UMLS:C4021273
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:43:52Z

[Term]
id: HP:0010413
name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
synonym: "Absent/small outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023843
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010414
name: Broad distal phalanx of the 2nd toe
synonym: "Broad outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023842
is_a: HP:0010186 ! Broad distal phalanx of the toes
is_a: HP:0010348 ! Broad phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010415
name: Bullet-shaped distal phalanx of the 2nd toe
def: "An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023841
is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010416
name: Curved distal phalanx of the 2nd toe
def: "A deviation from the normal straight form of the distal phalanx of the 2nd toe." [HPO:probinson]
synonym: "Curved outermost bone of the 2nd toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023840
is_a: HP:0010188 ! Curved distal toe phalanx
is_a: HP:0010350 ! Curved 2nd toe phalanx
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010417
name: Osteolytic defects of the distal phalanx of the 2nd toe
xref: UMLS:C4023839
is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010418
name: Patchy sclerosis of the distal phalanx of the 2nd toe
synonym: "Uneven increase in bone density in the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023838
is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx
is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx
is_a: HP:0100939 ! Sclerosis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010419
name: Symphalangism affecting the distal phalanx of the 2nd toe
synonym: "Fused outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023837
is_a: HP:0001859 ! Distal foot symphalangism
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
is_a: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010420
name: Triangular shaped distal phalanx of the 2nd toe
synonym: "Triangular shaped outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023836
is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010421
name: Duplication of the distal phalanx of the 2nd toe
def: "Partial or complete duplication of the distal phalanx of second toe." [HPO:sdoelken]
synonym: "Duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the 2nd toe" EXACT []
xref: UMLS:C4021272
is_a: HP:0010193 ! Duplication of distal phalanx of toe
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:44:41Z

[Term]
id: HP:0010422
name: Complete duplication of the proximal phalanx of the 2nd toe
def: "Complete duplication of proximal phalanx of second toe." [HPO:sdoelken]
synonym: "Complete duplication of the innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the proximal phalanx of the second toe" EXACT []
xref: UMLS:C4021271
is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe
is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:56:56Z

[Term]
id: HP:0010423
name: Partial duplication of the proximal phalanx of the 2nd toe
def: "Partial duplication of proximal phalanx of second toe." [HPO:probinson]
synonym: "Partial duplication of the innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the proximal phalanx of the second toe" EXACT []
xref: UMLS:C4021270
is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe
is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:56:56Z

[Term]
id: HP:0010424
name: Complete duplication of the distal phalanx of the 2nd toe
def: "Complete duplication of the distal phalanx of second toe." [HPO:probinson]
synonym: "Complete duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023835
is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe
is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:57:27Z

[Term]
id: HP:0010425
name: Partial duplication of the distal phalanx of the 2nd toe
def: "Partial duplication of the distal phalanx of second toe." [HPO:probinson]
synonym: "Partial duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023834
is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe
is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:57:27Z

[Term]
id: HP:0010426
name: Complete duplication of the middle phalanx of the 2nd toe
def: "Complete duplication of middle phalanx of second toe." [HPO:sdoelken]
synonym: "Complete duplication of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023833
is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe
is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:58:18Z

[Term]
id: HP:0010427
name: Partial duplication of the middle phalanx of the 2nd toe
def: "Partial duplication of middle phalanx of second toe." [HPO:sdoelken]
synonym: "Partial duplication of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023832
is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe
is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T12:58:18Z

[Term]
id: HP:0010428
name: Partial duplication of phalanx of the 2nd toe
def: "Partial duplication of a phalanx of second toe." [HPO:sdoelken]
synonym: "Partial duplication of 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023831
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T04:07:33Z

[Term]
id: HP:0010429
name: Complete duplication of the phalanges of the 2nd toe
def: "Complete duplication of a phalanx of second toe." [HPO:sdoelken]
synonym: "Complete duplication of the 2nd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023830
is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T04:07:33Z

[Term]
id: HP:0010430
name: Aplasia of the phalanges of the 2nd toe
alt_id: HP:0100361
synonym: "Absent 2nd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023829
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2009-07-16T04:27:29Z

[Term]
id: HP:0010431
name: Short phalanx of the 2nd toe
alt_id: HP:0100365
def: "Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia." [HPO:probinson]
synonym: "Hypoplastic/small phalanges of the 2nd toe" EXACT []
synonym: "Short 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short phalanx of the second toe" EXACT []
xref: UMLS:C4021269
is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe
is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe
is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2009-07-16T04:27:29Z

[Term]
id: HP:0010432
name: Absent distal phalanx of the 2nd toe
def: "Absence of distal phalanx of the second toe as a result of developmental aplasia." [HPO:probinson]
synonym: "Absent distal phalanx of the second toe" EXACT []
synonym: "Absent outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the distal phalanx of the 2nd toe" EXACT []
xref: UMLS:C4021268
is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe
is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes
created_by: doelkens
creation_date: 2009-07-16T04:28:07Z

[Term]
id: HP:0010433
name: Short distal phalanx of the 2nd toe
def: "Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia." [HPO:probinson]
synonym: "Hypoplastic/small distal phalanx of the 2nd toe" EXACT []
synonym: "Short distal phalanx of the second toe" EXACT []
synonym: "Short outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021267
is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
is_a: HP:0010431 ! Short phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T04:28:07Z

[Term]
id: HP:0010434
name: Aplasia of the middle phalanx of the 2nd toe
synonym: "Absent middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023828
is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe
is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes
created_by: doelkens
creation_date: 2009-07-16T04:28:48Z

[Term]
id: HP:0010435
name: Short middle phalanx of the 2nd toe
def: "Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia." [HPO:probinson]
synonym: "Hypoplastic/small middle phalanx of the 2nd toe" EXACT []
synonym: "Short middle 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle phalanx of the second toe" EXACT []
xref: UMLS:C4021266
is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
is_a: HP:0010431 ! Short phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T04:28:48Z

[Term]
id: HP:0010436
name: Aplasia of the proximal phalanx of the 2nd toe
synonym: "Absent innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023827
is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T04:29:25Z

[Term]
id: HP:0010437
name: Short proximal phalanx of the 2nd toe
def: "Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia." [HPO:sdoelken]
synonym: "Hypoplastic/small proximal phalanx of the 2nd toe" EXACT []
synonym: "Short innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short proximal phalanx of the second toe" EXACT []
xref: UMLS:C4021265
is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
is_a: HP:0010431 ! Short phalanx of the 2nd toe
created_by: doelkens
creation_date: 2009-07-16T04:29:25Z

[Term]
id: HP:0010438
name: Abnormal ventricular septum morphology
alt_id: HP:0001628
def: "A structural abnormality of the interventricular septum." [HPO:probinson]
synonym: "Abnormal interventricular septum morphology" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the ventricular septum" EXACT []
synonym: "Ventricular septum abnormality" EXACT []
xref: Fyler:1815
xref: UMLS:C4021264
is_a: HP:0001671 ! Abnormal cardiac septum morphology
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology
created_by: doelkens
creation_date: 2009-07-27T11:59:56Z

[Term]
id: HP:0010440
name: Ectopic accesory toe-like appendage
def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)." [HPO:curators]
xref: UMLS:C4023826
is_a: HP:0001829 ! Foot polydactyly
created_by: doelkens
creation_date: 2009-07-29T01:23:02Z

[Term]
id: HP:0010441
name: Ectopic accessory finger-like appendage
def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)." [HPO:probinson]
xref: UMLS:C4023825
is_a: HP:0001161 ! Hand polydactyly
created_by: doelkens
creation_date: 2009-07-29T01:34:47Z

[Term]
id: HP:0010442
name: Polydactyly
alt_id: HP:0006034
alt_id: HP:0006046
alt_id: HP:0006123
alt_id: HP:0009605
def: "A congenital anomaly characterized by the presence of supernumerary fingers or toes." [HPO:probinson]
synonym: "More than five fingers or toes on hands or feet" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: Fyler:4103
xref: MSH:D017689
xref: SNOMEDCT_US:367506006
xref: UMLS:C0152427
is_a: HP:0011297 ! Abnormal digit morphology
created_by: doelkens
creation_date: 2009-07-29T01:39:27Z

[Term]
id: HP:0010443
name: Bifid femur
def: "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side." [HPO:probinson]
subset: hposlim_core
synonym: "Notched thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Split thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023824
is_a: HP:0002823 ! Abnormality of femur morphology
created_by: doelkens
creation_date: 2009-07-29T04:29:30Z

[Term]
id: HP:0010444
name: Pulmonary insufficiency
def: "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators]
synonym: "Pulmonary incompetence" EXACT []
synonym: "Puolmonary valve insufficiency" EXACT []
xref: MSH:D011665
xref: SNOMEDCT_US:91434003
xref: UMLS:C0034088
is_a: HP:0031654 ! Abnormal pulmonary valve physiology
created_by: peter
creation_date: 2009-09-14T09:54:12Z

[Term]
id: HP:0010445
name: Primum atrial septal defect
def: "An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum." [DDD:dbrown, HPO:probinson]
synonym: "Atrial septal defect, primum type" EXACT [HPO:skoehler]
synonym: "Ostium primum atrial septal defect" EXACT []
synonym: "Primum atrioventricular canal defect" EXACT []
synonym: "Septum primum defect" EXACT []
xref: Fyler:1110
xref: MSH:C536112
xref: MSH:C548006
xref: SNOMEDCT_US:253373002
xref: UMLS:C0344735
xref: UMLS:C0741296
is_a: HP:0001631 ! Atrial septal defect
is_a: HP:0006695 ! Atrioventricular canal defect
created_by: peter
creation_date: 2009-09-14T09:59:38Z

[Term]
id: HP:0010446
name: Tricuspid stenosis
def: "A narrowing of the orifice of the tricuspid valve of the heart." [HPO:probinson, PMID:18222317]
comment: Tricuspid stenosis results in characteristic changes in the jugular venous pulse in the form of leisurely V to Y descent and prominent a-waves. The liver is enlarged with a firm edge and is pulsatile in presystole. This is best appreciated with one hand on the liver edge and one on the precordium. Auscultation reveals a low- to medium-pitched diastolic rumble with inspiratory accentuation. This is usually localized to the lower sternal border.
xref: EPCC:06.01.92
xref: ICD-10:Q22.4
xref: MSH:D014264
xref: SNOMEDCT_US:49915006
xref: UMLS:C0040963
is_a: HP:0031651 ! Abnormal tricuspid valve physiology
created_by: peter
creation_date: 2009-09-14T10:10:10Z

[Term]
id: HP:0010447
name: Anal fistula
def: "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [HPO:probinson]
subset: hposlim_core
synonym: "Fistula in ano" EXACT []
xref: MEDDRA:10002156 "Anal fistula"
xref: MSH:D012003
xref: SNOMEDCT_US:72779005
xref: UMLS:C0205929
is_a: HP:0004378 ! Abnormality of the anus
is_a: HP:0100819 ! Intestinal fistula
created_by: peter
creation_date: 2009-09-14T10:16:39Z

[Term]
id: HP:0010448
name: Colonic atresia
def: "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon." [HPO:probinson]
synonym: "Atresia of the large intestine" EXACT []
synonym: "Large intestinal atresia" EXACT []
xref: MSH:C562562
xref: SNOMEDCT_US:37054000
xref: UMLS:C0266190
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0011100 ! Intestinal atresia
created_by: peter
creation_date: 2009-09-14T10:23:09Z

[Term]
id: HP:0010450
name: Esophageal stenosis
def: "An abnormal narrowing of the lumen of the esophagus." [HPO:probinson]
synonym: "Narrowing of the esophagus" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D004940
xref: SNOMEDCT_US:63305008
xref: UMLS:C0014866
is_a: HP:0002031 ! Abnormal esophagus morphology
created_by: peter
creation_date: 2009-09-14T10:42:33Z

[Term]
id: HP:0010451
name: Aplasia/Hypoplasia of the spleen
def: "Absence or underdevelopment of the spleen." [HPO:curators]
synonym: "Absent/small spleen" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped spleen" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023823
is_a: HP:0025408 ! Abnormal spleen morphology
created_by: peter
creation_date: 2009-09-14T10:48:29Z

[Term]
id: HP:0010452
name: Ectopia of the spleen
def: "An abnormal (non-anatomic) location of the spleen." [HPO:curators]
synonym: "Abnormal spleen location" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Ectopic spleen" EXACT []
xref: SNOMEDCT_US:65146007
xref: UMLS:C0266632
is_a: HP:0025408 ! Abnormal spleen morphology
created_by: peter
creation_date: 2009-09-14T10:51:09Z

[Term]
id: HP:0010453
name: Pelvic bone asymmetry
def: "Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology." [HPO:probinson]
subset: hposlim_core
synonym: "Asymmetric pelvis" EXACT []
synonym: "Pelvic asymmetry" BROAD [HPO:skoehler]
xref: UMLS:C4021263
is_a: HP:0040163 ! Abnormal pelvis bone morphology
created_by: peter
creation_date: 2009-09-14T11:01:50Z

[Term]
id: HP:0010454
name: Acetabular spurs
def: "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C3808270
is_a: HP:0003170 ! Abnormality of the acetabulum
created_by: peter
creation_date: 2009-09-14T11:15:40Z

[Term]
id: HP:0010455
name: Steep acetabular roof
def: "An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance." [HPO:probinson]
xref: UMLS:C3150931
is_a: HP:0003170 ! Abnormality of the acetabulum
created_by: peter
creation_date: 2009-09-14T11:18:20Z

[Term]
id: HP:0010456
name: Abnormality of the greater sacrosciatic notch
def: "An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators]
synonym: "Abnormality of greater sciatic notch" EXACT []
xref: UMLS:C4023822
is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology
created_by: peter
creation_date: 2009-09-15T08:14:32Z

[Term]
id: HP:0010457
name: Widening of the sacrosciatic notch
def: "Abnormally increased width of the greater sacrosciatic notch." [HPO:curators]
xref: UMLS:C4023821
is_a: HP:0010456 ! Abnormality of the greater sacrosciatic notch
created_by: peter
creation_date: 2009-09-15T08:16:32Z

[Term]
id: HP:0010458
name: Female pseudohermaphroditism
def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized." [HPO:curators]
xref: MSH:D058489
xref: SNOMEDCT_US:8800006
xref: UMLS:C0238394
is_a: HP:0000055 ! Abnormality of female external genitalia
created_by: peter
creation_date: 2009-09-15T08:21:32Z

[Term]
id: HP:0010459
name: True hermaphroditism
alt_id: HP:0003242
def: "The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism." [HPO:curators]
synonym: "Testicular and ovarian tissue present" EXACT []
xref: MSH:D050090
xref: SNOMEDCT_US:18978002
xref: UMLS:C0266361
is_a: HP:0000062 ! Ambiguous genitalia
created_by: peter
creation_date: 2009-09-15T08:28:15Z

[Term]
id: HP:0010460
name: Abnormality of the female genitalia
def: "Abnormality of the female genital system." [HPO:probinson]
comment: Abnormality of the female internal or external genitalia.
xref: UMLS:C4023820
is_a: HP:0012243 ! Abnormal reproductive system morphology
created_by: peter
creation_date: 2009-09-15T08:32:09Z

[Term]
id: HP:0010461
name: Abnormality of the male genitalia
def: "Abnormality of the male genital system." [HPO:probinson]
synonym: "Abnormal male genitals" EXACT layperson []
synonym: "Abnormality of the male genitalia" EXACT layperson []
xref: UMLS:C4023819
is_a: HP:0012243 ! Abnormal reproductive system morphology
created_by: peter
creation_date: 2009-09-15T08:33:20Z

[Term]
id: HP:0010462
name: Aplasia/Hypoplasia of the ovary
def: "Aplasia or developmental hypoplasia of the ovary." [HPO:probinson]
synonym: "Absent/small ovary" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped ovary" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023818
is_a: HP:0031065 ! Abnormal ovarian morphology
created_by: peter
creation_date: 2009-09-15T08:38:35Z

[Term]
id: HP:0010463
name: Aplasia of the ovary
def: "Aplasia, that is failure to develop, of the ovary." [HPO:probinson]
synonym: "Absent ovary" EXACT layperson []
synonym: "Aplasia of the ovaries" RELATED []
synonym: "Bilateral absent ovaries" RELATED [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:12017008
xref: UMLS:C0266368
is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary
created_by: peter
creation_date: 2009-09-15T08:40:06Z

[Term]
id: HP:0010464
name: Streak ovary
def: "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells." [HPO:probinson]
xref: SNOMEDCT_US:70550008
xref: UMLS:C0266371
is_a: HP:0008724 ! Hypoplasia of the ovary
created_by: peter
creation_date: 2009-09-15T08:42:35Z

[Term]
id: HP:0010465
name: Precocious puberty in females
def: "The onset of puberty before the age of 8 years in girls." [HPO:probinson]
xref: SNOMEDCT_US:19911007
xref: UMLS:C0271616
is_a: HP:0000826 ! Precocious puberty
created_by: peter
creation_date: 2009-09-15T08:48:42Z

[Term]
id: HP:0010468
name: Aplasia/Hypoplasia of the testes
def: "Absence or underdevelopment of the testes." [HPO:curators]
synonym: "Absent/small testes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped testes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023817
is_a: HP:0045058 ! Abnormality of the testis size
created_by: peter
creation_date: 2009-09-15T09:28:46Z

[Term]
id: HP:0010469
name: Absent testis
def: "Testis not palpable in the scrotum or inguinal canal." [HPO:probinson, PMID:23650202]
comment: Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies.
synonym: "Absence of palpable testicules" EXACT [HPO:skoehler]
synonym: "Absent testes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the testes" EXACT []
xref: UMLS:C4023816
is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes
created_by: peter
creation_date: 2009-09-15T09:29:16Z

[Term]
id: HP:0010470
name: Supernumerary testes
def: "The presence of more than two testes." [HPO:probinson]
synonym: "Extra testes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Polyorchidism" EXACT []
xref: SNOMEDCT_US:17471001
xref: UMLS:C0266430
is_a: HP:0000035 ! Abnormal testis morphology
created_by: peter
creation_date: 2009-09-15T09:34:18Z

[Term]
id: HP:0010471
name: Oligosacchariduria
def: "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins." [HPO:probinson]
xref: UMLS:C4023815
is_a: HP:0031979 ! Abnormal urine carbohydrate level
created_by: peter
creation_date: 2009-09-15T09:48:34Z

[Term]
id: HP:0010472
name: Abnormal circulating porphyrin concentration
def: "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes." [HPO:curators]
xref: UMLS:C4023814
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
created_by: peter
creation_date: 2009-09-15T09:53:11Z

[Term]
id: HP:0010473
name: Porphyrinuria
def: "Abnormally increased excretion of porphyrins in the urine." [HPO:probinson]
comment: Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme.
xref: SNOMEDCT_US:44574006
xref: UMLS:C0151861
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2009-09-15T09:57:34Z

[Term]
id: HP:0010474
name: Bladder stones
def: "Buildups of minerals that form in the urinary bladder." [HPO:probinson]
xref: MSH:D001744
xref: SNOMEDCT_US:70650003
xref: UMLS:C0005683
is_a: HP:0025487 ! Abnormality of bladder morphology
created_by: peter
creation_date: 2009-09-15T10:03:20Z

[Term]
id: HP:0010475
name: Cloacal exstrophy
def: "Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus." [HPO:probinson]
xref: SNOMEDCT_US:20815007
xref: UMLS:C0345217
is_a: HP:0012620 ! Cloacal abnormality
is_a: HP:0100548 ! Exstrophy
created_by: peter
creation_date: 2009-09-15T10:08:32Z

[Term]
id: HP:0010476
name: Aplasia/Hypoplasia of the bladder
def: "Absence or underdevelopment of the urinary bladder." [HPO:probinson]
synonym: "Absent/small bladder" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped bladder" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023813
is_a: HP:0025487 ! Abnormality of bladder morphology
created_by: peter
creation_date: 2009-09-15T10:09:48Z

[Term]
id: HP:0010477
name: Aplasia of the bladder
def: "Aplasia (absence) of the urinary bladder." [HPO:probinson]
synonym: "Absent bladder" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023812
is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder
created_by: peter
creation_date: 2009-09-15T10:10:19Z

[Term]
id: HP:0010478
name: Abnormality of the urachus
def: "Abnormality of the urachus." [HPO:probinson]
comment: The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord.
xref: UMLS:C4023811
is_a: HP:0025487 ! Abnormality of bladder morphology
created_by: peter
creation_date: 2009-09-15T10:13:04Z

[Term]
id: HP:0010479
name: Patent urachus
def: "Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus." [HPO:probinson]
synonym: "Persistent urachus" EXACT []
xref: SNOMEDCT_US:398316009
xref: UMLS:C0266357
is_a: HP:0010478 ! Abnormality of the urachus
created_by: peter
creation_date: 2009-09-15T10:15:17Z

[Term]
id: HP:0010480
name: Urethral fistula
def: "The presence of an abnormal connection between the urethra and another organ or the skin." [HPO:curators]
xref: SNOMEDCT_US:14981000
xref: UMLS:C0041970
is_a: HP:0000795 ! Abnormality of the urethra
is_a: HP:0100589 ! Urogenital fistula
created_by: peter
creation_date: 2009-09-15T10:37:37Z

[Term]
id: HP:0010481
name: Urethral valve
def: "The presence of an abnormal membrane obstructing the urethra." [HPO:probinson]
xref: SNOMEDCT_US:297163001
xref: UMLS:C0266345
is_a: HP:0000796 ! Urethral obstruction
created_by: peter
creation_date: 2009-09-15T10:38:46Z

[Term]
id: HP:0010482
name: Acromelia of the upper limbs
def: "Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments." [HPO:curators]
xref: UMLS:C4023810
is_a: HP:0010884 ! Acromelia
created_by: peter
creation_date: 2009-09-16T08:56:43Z

[Term]
id: HP:0010483
name: Amniotic constriction rings of arms
def: "Amniotic constriction rings affecting the arms." [HPO:curators]
xref: UMLS:C4023809
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0009775 ! Amniotic constriction ring
created_by: peter
creation_date: 2009-09-16T09:15:05Z

[Term]
id: HP:0010484
name: Hypertrophy of the upper limb
def: "Abnormal increase in size of the upper limbs (due to an increase of the size of cells)." [HPO:curators]
synonym: "Increased size of upper limb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:298745009
xref: UMLS:C0575518
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: peter
creation_date: 2009-09-16T09:23:57Z

[Term]
id: HP:0010485
name: Hyperextensibility at elbow
def: "The ability of the elbow joint to move beyond its normal range of motion." [HPO:curators]
xref: UMLS:C4023808
is_a: HP:0001382 ! Joint hypermobility
created_by: peter
creation_date: 2009-09-16T10:05:52Z

[Term]
id: HP:0010486
name: Abnormality of the hypothenar eminence
def: "An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger)." [HPO:probinson]
xref: UMLS:C4023807
is_a: HP:0001421 ! Abnormality of the musculature of the hand
created_by: peter
creation_date: 2009-09-16T10:38:43Z

[Term]
id: HP:0010487
name: Small hypothenar eminence
alt_id: HP:0005721
def: "Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "Hypoplasia of the hypothenar eminence" EXACT []
synonym: "Hypothenar hypoplasia" EXACT []
xref: UMLS:C1861395
is_a: HP:0010486 ! Abnormality of the hypothenar eminence
created_by: peter
creation_date: 2009-09-16T10:40:18Z

[Term]
id: HP:0010488
name: Aplasia/Hypoplasia of the palmar creases
def: "Absence or underdevelopment of the palmar creases." [HPO:curators]
synonym: "Absent/small palm crease" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped palm crease" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023806
is_a: HP:0010490 ! Abnormality of the palmar creases
created_by: peter
creation_date: 2009-09-16T10:53:24Z

[Term]
id: HP:0010489
name: Absent palmar crease
def: "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease)." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "Absence of the palmar creases" EXACT []
synonym: "Absent palm lines" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the palmar creases" EXACT []
xref: UMLS:C4021262
is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases
created_by: peter
creation_date: 2009-09-16T10:54:09Z

[Term]
id: HP:0010490
name: Abnormality of the palmar creases
def: "An abnormality of the creases of the skin of palm of hand." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of the palm lines" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:205557000
xref: UMLS:C0221199
is_a: HP:0001018 ! Abnormal palmar dermatoglyphics
created_by: peter
creation_date: 2009-09-16T10:54:52Z

[Term]
id: HP:0010491
name: Digital constriction ring
def: "A narrow segment of significantly reduced circumference of a digit." [pmid:19125433]
comment: The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit.
subset: hposlim_core
synonym: "Amniotic constriction rings of digits" EXACT []
xref: UMLS:C4021261
is_a: HP:0009775 ! Amniotic constriction ring
created_by: peter
creation_date: 2009-09-16T11:08:16Z

[Term]
id: HP:0010492
name: Osseous finger syndactyly
def: "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:sdoelken]
subset: hposlim_core
synonym: "Osseous syndactyly of the fingers" EXACT []
xref: SNOMEDCT_US:2560006
xref: UMLS:C0158736
is_a: HP:0006101 ! Finger syndactyly
created_by: peter
creation_date: 2009-09-16T11:20:38Z

[Term]
id: HP:0010493
name: Long metacarpals
def: "An abnormally increased length of the metacarpal bones." [HPO:probinson]
subset: hposlim_core
synonym: "Elongated long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased length of metacarpals" EXACT []
xref: UMLS:C4021260
is_a: HP:0005916 ! Abnormal metacarpal morphology
created_by: peter
creation_date: 2009-09-17T10:25:37Z

[Term]
id: HP:0010494
name: Acromelia of the lower limbs
def: "Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments." [HPO:probinson]
xref: UMLS:C4023805
is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs
is_a: HP:0010884 ! Acromelia
created_by: peter
creation_date: 2009-09-17T11:04:51Z

[Term]
id: HP:0010495
name: Amniotic constriction rings of legs
def: "Amniotic constriction rings affecting the legs." [HPO:probinson]
xref: UMLS:C4023804
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0009775 ! Amniotic constriction ring
created_by: peter
creation_date: 2009-09-17T11:07:10Z

[Term]
id: HP:0010496
name: Hypertrophy of the lower limb
def: "Abnormal increase in size of the lower limbs (due to an increase of the size of cells)." [HPO:curators]
xref: UMLS:C4023803
is_a: HP:0002814 ! Abnormality of the lower limb
created_by: peter
creation_date: 2009-09-17T11:08:38Z

[Term]
id: HP:0010497
name: Sirenomelia
def: "A developmental defect in which the legs are fused together." [HPO:probinson]
subset: hposlim_core
synonym: "Sympodia" RELATED []
xref: MEDDRA:10049216 "Sympodia"
xref: MSH:D004480
xref: SNOMEDCT_US:253191000
xref: SNOMEDCT_US:67254002
xref: SNOMEDCT_US:91089008
xref: UMLS:C0037205
is_a: HP:0002814 ! Abnormality of the lower limb
created_by: peter
creation_date: 2009-09-17T11:11:10Z

[Term]
id: HP:0010498
name: Bipartite patella
def: "A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood." [HPO:probinson]
subset: hposlim_core
xref: SNOMEDCT_US:79214007
xref: UMLS:C0265666
is_a: HP:0003045 ! Abnormality of the patella
created_by: peter
creation_date: 2009-09-17T11:39:39Z

[Term]
id: HP:0010499
name: Patellar subluxation
def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella." [HPO:curators]
synonym: "Partial knee cap dislocation" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Subluxation of patella" EXACT []
xref: UMLS:C0857276
is_a: HP:0003045 ! Abnormality of the patella
created_by: peter
creation_date: 2009-09-17T11:46:41Z

[Term]
id: HP:0010500
name: Hyperextensibility of the knee
def: "The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh)." [HPO:probinson]
xref: UMLS:C4023802
is_a: HP:0002815 ! Abnormality of the knee
created_by: peter
creation_date: 2009-09-19T09:44:04Z

[Term]
id: HP:0010501
name: Limitation of knee mobility
alt_id: HP:0005030
alt_id: HP:0005192
def: "An abnormal limitation of knee joint mobility." [HPO:curators]
synonym: "Limitation of knee mobility" EXACT layperson []
synonym: "Limited knee movement" EXACT layperson []
xref: UMLS:C4021259
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0002815 ! Abnormality of the knee
created_by: peter
creation_date: 2009-09-19T09:44:33Z

[Term]
id: HP:0010502
name: Fibular bowing
def: "A bending or abnormal curvature of the fibula." [HPO:probinson]
comment: A developmental defect with posteromedial fibular angulation.
synonym: "Bowed calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023801
is_a: HP:0002979 ! Bowing of the legs
is_a: HP:0002991 ! Abnormality of fibula morphology
created_by: peter
creation_date: 2009-09-19T09:45:18Z

[Term]
id: HP:0010503
name: Fibular duplication
def: "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition." [HPO:probinson]
subset: hposlim_core
synonym: "Duplicated calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3276742
is_a: HP:0002991 ! Abnormality of fibula morphology
created_by: peter
creation_date: 2009-09-19T09:45:58Z

[Term]
id: HP:0010504
name: Increased length of the tibia
def: "An abnormal increase in the length of the tibia." [HPO:curators]
synonym: "Increased length of shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased length of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021864
is_a: HP:0002992 ! Abnormality of tibia morphology
created_by: peter
creation_date: 2009-09-19T09:46:37Z

[Term]
id: HP:0010505
name: Limitation of movement at ankles
def: "An abnormal limitation of the mobility of the ankle joint." [HPO:curators]
xref: UMLS:C4023800
is_a: HP:0001376 ! Limitation of joint mobility
is_a: HP:0003028 ! Abnormality of the ankles
created_by: peter
creation_date: 2009-09-19T09:47:11Z

[Term]
id: HP:0010506
name: Abnormal plantar dermatoglyphics
def: "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot." [HPO:probinson]
synonym: "Abnormal dermatoglyphics on feet" EXACT []
synonym: "Abnormal prints on feet" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021258
is_a: HP:0007477 ! Abnormal dermatoglyphics
is_a: HP:0100872 ! Abnormality of the plantar skin of foot
created_by: peter
creation_date: 2009-09-19T09:47:44Z

[Term]
id: HP:0010507
name: Foot asymmetry
def: "A difference in size or shape between the left and right foot." [HPO:curators]
xref: UMLS:C4023799
is_a: HP:0001760 ! Abnormality of the foot
created_by: peter
creation_date: 2009-09-19T09:49:04Z

[Term]
id: HP:0010508
name: Metatarsus valgus
def: "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [HPO:curators]
xref: MSH:D000070591
xref: UMLS:C4082144
is_a: HP:0001832 ! Abnormal metatarsal morphology
created_by: peter
creation_date: 2009-09-19T09:59:48Z

[Term]
id: HP:0010509
name: Aplasia of the tarsal bones
def: "Absence of the tarsal bones." [HPO:curators]
synonym: "Absent ankle bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent tarsals" EXACT []
xref: UMLS:C4021257
is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones
created_by: peter
creation_date: 2009-09-19T10:05:13Z

[Term]
id: HP:0010510
name: Hypermobility of toe joints
def: "An ability of the toe joints to move beyond their normal range of motion." [HPO:curators]
xref: UMLS:C4023798
is_a: HP:0001780 ! Abnormality of toe
created_by: peter
creation_date: 2009-09-19T10:15:12Z

[Term]
id: HP:0010511
name: Long toe
def: "Digits that appear disproportionately long compared to the foot." [HPO:probinson, pmid:19125433]
comment: This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified.
subset: hposlim_core
synonym: "Increased length of toes" EXACT layperson []
synonym: "Long toe" EXACT layperson []
synonym: "Long toes" EXACT layperson []
xref: UMLS:C3150613
is_a: HP:0001780 ! Abnormality of toe
created_by: peter
creation_date: 2009-09-19T10:40:43Z

[Term]
id: HP:0010512
name: Adrenal calcification
def: "Calcification within the adrenal glands." [HPO:probinson]
comment: This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts.
xref: SNOMEDCT_US:12286000
xref: UMLS:C0271750
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0011732 ! Abnormality of adrenal morphology
created_by: peter
creation_date: 2009-09-19T03:34:26Z

[Term]
id: HP:0010513
name: Pituitary calcification
def: "Deposition of calcium salts in the pituitary gland." [HPO:probinson]
xref: UMLS:C4023797
is_a: HP:0002514 ! Cerebral calcification
is_a: HP:0011747 ! Abnormality of the anterior pituitary
created_by: peter
creation_date: 2009-09-19T04:09:21Z

[Term]
id: HP:0010514
name: Hyperpituitarism
def: "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma." [HPO:probinson]
xref: MSH:D006964
xref: SNOMEDCT_US:10649000
xref: UMLS:C0020506
is_a: HP:0011747 ! Abnormality of the anterior pituitary
created_by: peter
creation_date: 2009-09-19T04:14:54Z

[Term]
id: HP:0010515
name: Aplasia/Hypoplasia of the thymus
def: "Absence or underdevelopment of the thymus." [HPO:probinson]
synonym: "Absent/small thymus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped thymus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Thymic hypoplasia or aplasia" RELATED [HPO:skoehler]
xref: UMLS:C3278004
xref: UMLS:C4023796
is_a: HP:0000777 ! Abnormality of the thymus
created_by: peter
creation_date: 2009-09-19T04:21:24Z

[Term]
id: HP:0010516
name: Thymus hyperplasia
def: "Enlargement of the thymus." [HPO:curators]
synonym: "Enlarged thymus" EXACT layperson []
synonym: "Thymic hyperplasia" EXACT []
xref: MSH:D013952
xref: UMLS:C0040115
is_a: HP:0000777 ! Abnormality of the thymus
created_by: peter
creation_date: 2009-09-19T04:23:10Z

[Term]
id: HP:0010517
name: Ectopic thymus tissue
def: "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." [HPO:curators]
synonym: "Abnormal thymus position" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023795
is_a: HP:0000777 ! Abnormality of the thymus
created_by: peter
creation_date: 2009-09-19T04:30:35Z

[Term]
id: HP:0010518
name: Thyroglossal cyst
def: "An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct." [HPO:probinson]
comment: A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst.
subset: hposlim_core
synonym: "Thyroglossal duct cyst" EXACT []
xref: MSH:D013955
xref: SNOMEDCT_US:39462005
xref: UMLS:C0040124
is_a: HP:0011772 ! Abnormality of thyroid morphology
created_by: peter
creation_date: 2009-09-19T04:38:04Z

[Term]
id: HP:0010519
name: Increased fetal movement
def: "An abnormal increase in quantity or strength of fetal movements." [HPO:curators]
synonym: "Fetal hyperkinesia" EXACT []
xref: UMLS:C4021256
is_a: HP:0001557 ! Prenatal movement abnormality
created_by: peter
creation_date: 2009-09-20T10:44:15Z

[Term]
id: HP:0010521
name: Gait apraxia
def: "Gait apraxia affecting the ability to make walking movements with the legs." [HPO:curators]
xref: MSH:D020235
xref: SNOMEDCT_US:30767006
xref: UMLS:C1510417
is_a: HP:0001288 ! Gait disturbance
is_a: HP:0002186 ! Apraxia
created_by: peter
creation_date: 2009-09-20T11:01:35Z

[Term]
id: HP:0010522
name: Dyslexia
alt_id: HP:0006871
def: "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [HPO:probinson]
synonym: "Reading disability" EXACT layperson []
xref: MSH:D004410
xref: SNOMEDCT_US:52824009
xref: SNOMEDCT_US:59770006
xref: SNOMEDCT_US:9236007
xref: UMLS:C0476254
is_a: HP:0001328 ! Specific learning disability
created_by: peter
creation_date: 2009-09-20T11:19:24Z

[Term]
id: HP:0010523
name: Alexia
def: "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [HPO:probinson]
comment: Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed.
synonym: "Text blindness" EXACT layperson []
synonym: "Word blindness" EXACT layperson []
xref: MSH:D004410
xref: SNOMEDCT_US:9236007
xref: UMLS:C0002018
is_a: HP:0002167 ! Neurological speech impairment
created_by: peter
creation_date: 2009-09-20T11:27:07Z

[Term]
id: HP:0010524
name: Agnosia
def: "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:probinson]
xref: MSH:D000377
xref: SNOMEDCT_US:42341009
xref: UMLS:C0001816
is_a: HP:0011446 ! Abnormality of higher mental function
created_by: peter
creation_date: 2009-09-20T11:33:03Z

[Term]
id: HP:0010525
name: Finger agnosia
def: "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators]
xref: MSH:D000377
xref: SNOMEDCT_US:3449007
xref: UMLS:C0234509
is_a: HP:0010524 ! Agnosia
created_by: peter
creation_date: 2009-09-20T11:37:33Z

[Term]
id: HP:0010526
name: Dysgraphia
def: "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators]
xref: MSH:D000381
xref: SNOMEDCT_US:88278002
xref: UMLS:C0234144
is_a: HP:0002167 ! Neurological speech impairment
created_by: peter
creation_date: 2009-09-20T11:40:43Z

[Term]
id: HP:0010527
name: Astereognosia
def: "Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit." [HPO:probinson]
synonym: "Astereognosis" EXACT []
synonym: "Somatosensory agnosia" EXACT []
xref: MSH:D000377
xref: SNOMEDCT_US:25094008
xref: UMLS:C0234505
is_a: HP:0010524 ! Agnosia
is_a: HP:0011730 ! Abnormality of central sensory function
created_by: peter
creation_date: 2009-09-20T11:41:58Z

[Term]
id: HP:0010528
name: Prosopagnosia
def: "Inability to recognize faces of familiar persons." [HPO:probinson]
synonym: "Face blindness" EXACT layperson []
synonym: "Facial agnosia" EXACT []
xref: MSH:D020238
xref: SNOMEDCT_US:18358003
xref: UMLS:C0234512
is_a: HP:0010524 ! Agnosia
created_by: peter
creation_date: 2009-09-20T11:45:49Z

[Term]
id: HP:0010529
name: Echolalia
def: "The tendency to repeat vocalizations made by another person." [HPO:curators]
synonym: "Echoing another person's speech" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Echologia" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Echophrasia" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Repeated speech" BROAD layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D004454
xref: SNOMEDCT_US:64712007
xref: UMLS:C0013528
xref: UMLS:C4280380
is_a: HP:0000708 ! Behavioral abnormality
is_a: HP:0002167 ! Neurological speech impairment
created_by: peter
creation_date: 2009-09-20T08:17:27Z

[Term]
id: HP:0010530
name: Palatal myoclonus
def: "Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate." [HPO:probinson]
xref: MSH:D009207
xref: SNOMEDCT_US:9366002
xref: UMLS:C0030214
is_a: HP:0001336 ! Myoclonus
created_by: peter
creation_date: 2009-09-20T08:50:17Z

[Term]
id: HP:0010531
name: Spinal myoclonus
def: "Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia." [HPO:curators]
xref: SNOMEDCT_US:698836007
xref: UMLS:C3697670
is_a: HP:0001336 ! Myoclonus
created_by: peter
creation_date: 2009-09-20T08:53:39Z

[Term]
id: HP:0010532
name: Paroxysmal vertigo
def: "Paroxysmal episodes of vertigo." [HPO:curators]
xref: MSH:D014717
xref: SNOMEDCT_US:103290003
xref: UMLS:C0522357
is_a: HP:0002321 ! Vertigo
created_by: peter
creation_date: 2009-09-20T09:12:15Z

[Term]
id: HP:0010533
name: Spasmus nutans
def: "The combination of pendular nystagmus, head nodding, and torticollis." [HPO:probinson, pmid:7499100]
xref: MSH:D013036
xref: SNOMEDCT_US:18191000
xref: UMLS:C0546878
is_a: HP:0012043 ! Pendular nystagmus
created_by: peter
creation_date: 2009-09-20T09:19:57Z

[Term]
id: HP:0010534
name: Transient global amnesia
def: "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information." [HPO:curators]
xref: MSH:D020236
xref: SNOMEDCT_US:230736007
xref: UMLS:C0338591
is_a: HP:0002354 ! Memory impairment
created_by: peter
creation_date: 2009-09-20T09:33:50Z

[Term]
id: HP:0010535
name: Sleep apnea
def: "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators]
synonym: "Pauses in breathing while sleeping" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Sleep apnoea" EXACT []
xref: MSH:D012891
xref: SNOMEDCT_US:73430006
xref: UMLS:C0037315
is_a: HP:0002104 ! Apnea
is_a: HP:0002360 ! Sleep disturbance
created_by: peter
creation_date: 2009-09-21T08:53:35Z

[Term]
id: HP:0010536
name: Central sleep apnea
def: "Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles." [HPO:probinson]
synonym: "Central sleep apnoea" EXACT []
xref: MSH:D020182
xref: UMLS:C0520680
is_a: HP:0010535 ! Sleep apnea
created_by: peter
creation_date: 2009-09-21T08:57:02Z

[Term]
id: HP:0010537
name: Wide cranial sutures
def: "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)." [HPO:probinson]
subset: hposlim_core
synonym: "Broad cranial sutures" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large cranial suture" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "open cranial sutures" EXACT []
synonym: "Persistent open cranial sutures" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Widened cranial sutures" EXACT []
xref: SNOMEDCT_US:268855009
xref: UMLS:C0410935
is_a: HP:0011329 ! Abnormality of cranial sutures
created_by: peter
creation_date: 2009-09-21T09:50:28Z

[Term]
id: HP:0010538
name: Small sella turcica
def: "An abnormally small sella turcica." [HPO:curators]
subset: hposlim_core
synonym: "Hypoplasia of hypophseal fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of pituitary fossa" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of sella turcica" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small hypophyseal fossa" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Small pituitary fossa" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023794
xref: UMLS:C4072875
xref: UMLS:C4072876
is_a: HP:0002679 ! Abnormality of the sella turcica
created_by: peter
creation_date: 2009-09-21T10:19:05Z

[Term]
id: HP:0010539
name: Thin calvarium
def: "The presence of an abnormally thin calvarium." [HPO:probinson]
subset: hposlim_core
synonym: "Thin cranial bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin skull bone" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856231
xref: UMLS:C4280379
is_a: HP:0002683 ! Abnormality of the calvaria
created_by: peter
creation_date: 2009-09-21T10:21:29Z

[Term]
id: HP:0010540
name: Advanced pneumatization of cranial sinuses
def: "A degree of pneumatization that is increased compared to age-related norms." [HPO:probinson]
xref: UMLS:C4023793
is_a: HP:0000245 ! Abnormality of the paranasal sinuses
created_by: peter
creation_date: 2009-09-23T10:04:21Z

[Term]
id: HP:0010541
name: Cutis gyrata of scalp
def: "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." [HPO:probinson]
synonym: "Cutis verticis gyrata" EXACT []
synonym: "Furrows in thickened skin on top of scalp" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Scalp folds" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Scalp furrows" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Thickened folds on top of scalp" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thickening of the scalp" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:51603000
xref: UMLS:C0263417
xref: UMLS:C4072877
xref: UMLS:C4280378
is_a: HP:0001965 ! Abnormality of the scalp
is_a: HP:0011356 ! Regional abnormality of skin
created_by: peter
creation_date: 2009-09-23T10:15:33Z

[Term]
id: HP:0010542
name: Vestibular nystagmus
def: "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components." [HPO:curators]
xref: SNOMEDCT_US:46888001
xref: UMLS:C0155379
is_a: HP:0000639 ! Nystagmus
is_a: HP:0009591 ! Abnormality of the vestibulocochlear nerve
created_by: peter
creation_date: 2009-09-23T10:38:28Z

[Term]
id: HP:0010543
name: Opsoclonus
def: "Bursts of large-amplitude multidirectional saccades without intersaccadic interval" [HPO:probinson, UManchester:psergouniotis]
comment: Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude.
xref: MSH:D015835
xref: SNOMEDCT_US:194177006
xref: UMLS:C0242567
is_a: HP:0012547 ! Abnormal involuntary eye movements
is_a: HP:0032104 ! Saccadic oscillation
created_by: peter
creation_date: 2009-09-23T10:40:51Z

[Term]
id: HP:0010544
name: Vertical nystagmus
def: "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus." [HPO:probinson]
subset: hposlim_core
xref: MSH:D009759
xref: SNOMEDCT_US:111533001
xref: UMLS:C0271386
is_a: HP:0000639 ! Nystagmus
created_by: peter
creation_date: 2009-09-23T10:45:18Z

[Term]
id: HP:0010545
name: Downbeat nystagmus
def: "Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone." [HPO:probinson, pmid:21505601]
xref: SNOMEDCT_US:307676006
xref: UMLS:C0585544
is_a: HP:0010544 ! Vertical nystagmus
created_by: peter
creation_date: 2009-09-23T10:47:44Z

[Term]
id: HP:0010546
name: Muscle fibrillation
def: "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG." [HPO:probinson]
synonym: "Twitching" RELATED layperson []
xref: SNOMEDCT_US:41405005
xref: UMLS:C0231531
is_a: HP:0100022 ! Abnormality of movement
created_by: peter
creation_date: 2009-09-29T08:23:48Z

[Term]
id: HP:0010547
name: Muscle flaccidity
def: "A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation." [HPO:curators]
xref: MSH:D009123
xref: SNOMEDCT_US:186611004
xref: SNOMEDCT_US:397488002
xref: UMLS:C0026825
is_a: HP:0001324 ! Muscle weakness
created_by: peter
creation_date: 2009-09-29T09:21:45Z

[Term]
id: HP:0010548
name: Percussion myotonia
alt_id: HP:0004304
def: "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object)." [HPO:curators]
synonym: "Transient swelling of muscle induced by percussion" EXACT []
xref: MSH:D009222
xref: UMLS:C0751359
is_a: HP:0002486 ! Myotonia
created_by: peter
creation_date: 2009-10-01T08:15:50Z

[Term]
id: HP:0010549
name: Weakness due to upper motor neuron dysfunction
def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons." [HPO:probinson]
synonym: "Paralysis due to lesions of the principle motor tracts" EXACT []
xref: UMLS:C4021255
is_a: HP:0002493 ! Upper motor neuron dysfunction
created_by: peter
creation_date: 2009-10-01T08:30:25Z

[Term]
id: HP:0010550
name: Paraplegia
def: "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:probinson]
synonym: "Leg paralysis" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010264
xref: SNOMEDCT_US:60389000
xref: UMLS:C0030486
is_a: HP:0010551 ! Paraplegia/paraparesis
created_by: peter
creation_date: 2009-10-01T08:32:57Z

[Term]
id: HP:0010551
name: Paraplegia/paraparesis
def: "Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength." [HPO:curators]
xref: UMLS:C4023792
is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction
created_by: peter
creation_date: 2009-10-01T08:36:05Z

[Term]
id: HP:0010553
name: Oculogyric crisis
def: "An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications." [HPO:curators]
xref: SNOMEDCT_US:5332004
xref: UMLS:C0085637
is_a: HP:0001332 ! Dystonia
created_by: peter
creation_date: 2009-10-01T08:56:39Z

[Term]
id: HP:0010554
name: Cutaneous finger syndactyly
alt_id: HP:0001214
alt_id: HP:0005637
alt_id: HP:0006054
alt_id: HP:0006220
def: "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers." [pmid:19125433]
comment: We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly.
subset: hposlim_core
synonym: "Cutaneous syndactyly of fingers" EXACT []
synonym: "Cutaneous syndactyly of hands" EXACT []
synonym: "Webbed fingers" EXACT layperson [pmid:16200145]
synonym: "Webbed skin of fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021254
is_a: HP:0006101 ! Finger syndactyly
is_a: HP:0012725 ! Cutaneous syndactyly
created_by: sandra1
creation_date: 2009-10-07T10:59:57Z

[Term]
id: HP:0010557
name: Overlapping fingers
def: "A finger resting on the dorsal surface of an adjacent digit when the hand is at rest." [HPO:probinson, pmid:19125433]
comment: Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly.
subset: hposlim_core
xref: UMLS:C1446712
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0005922 ! Abnormal hand morphology
created_by: sandra1
creation_date: 2009-10-13T09:21:52Z

[Term]
id: HP:0010558
name: Abnormality of the clivus
def: "An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum." [HPO:curators]
xref: UMLS:C4023791
is_a: HP:0000932 ! Abnormality of the posterior cranial fossa
created_by: peter
creation_date: 2009-10-14T09:37:19Z

[Term]
id: HP:0010559
name: Vertical clivus
def: "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [HPO:curators]
xref: UMLS:C1844702
is_a: HP:0010558 ! Abnormality of the clivus
created_by: peter
creation_date: 2009-10-14T09:39:04Z

[Term]
id: HP:0010560
name: Undulate clavicles
def: "An abnormally wavy surface or edge of the clavicles." [HPO:curators]
synonym: "Wavy clavicles" EXACT []
synonym: "Wavy collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021253
is_a: HP:0000889 ! Abnormality of the clavicle
created_by: peter
creation_date: 2009-10-14T09:52:46Z

[Term]
id: HP:0010561
name: Undulate ribs
def: "An abnormally wavy surface or edge of the ribs." [HPO:probinson]
synonym: "Wavy ribs" EXACT layperson []
xref: UMLS:C1969185
is_a: HP:0000772 ! Abnormality of the ribs
created_by: peter
creation_date: 2009-10-14T09:56:07Z

[Term]
id: HP:0010562
name: Keloids
subset: hposlim_core
xref: MEDDRA:10023330 "Keloid scar"
xref: MSH:D007627
xref: SNOMEDCT_US:33659008
xref: SNOMEDCT_US:58405006
xref: UMLS:C0022548
is_a: HP:0000987 ! Atypical scarring of skin
created_by: peter
creation_date: 2009-10-15T07:39:56Z

[Term]
id: HP:0010564
name: Bifid epiglottis
def: "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation." [HPO:curators]
xref: SNOMEDCT_US:232412004
xref: UMLS:C0339864
is_a: HP:0005483 ! Abnormal epiglottis morphology
created_by: sandra1
creation_date: 2009-10-16T02:20:48Z

[Term]
id: HP:0010565
name: Aplasia/Hypoplasia of the Epiglottis
def: "This term applies if the Epiglottis is absent or hypoplastic." [HPO:curators]
xref: UMLS:C4023790
is_a: HP:0005483 ! Abnormal epiglottis morphology
created_by: sandra1
creation_date: 2009-10-16T02:27:31Z

[Term]
id: HP:0010566
name: Hamartoma
def: "A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." [HPO:curators]
xref: MSH:D006222
xref: SNOMEDCT_US:400006008
xref: SNOMEDCT_US:51398009
xref: UMLS:C0018552
is_a: HP:0011792 ! Neoplasm by histology
created_by: sandra1
creation_date: 2009-10-16T02:51:16Z

[Term]
id: HP:0010567
name: Y-shaped metatarsals
def: "Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly." [HPO:curators]
synonym: "Y-shaped long bone of foot" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023789
is_a: HP:0001832 ! Abnormal metatarsal morphology
created_by: sandra1
creation_date: 2009-10-16T06:50:11Z

[Term]
id: HP:0010568
name: Hamartoma of the eye
def: "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye." [HPO:probinson]
xref: UMLS:C4023788
is_a: HP:0010566 ! Hamartoma
is_a: HP:0030670 ! Hamartoma of the orbital region
is_a: HP:0100012 ! Neoplasm of the eye
created_by: sandra1
creation_date: 2009-10-17T12:57:24Z

[Term]
id: HP:0010569
name: Elevated 7-dehydrocholesterol
def: "Elevated 7-dehydrocholesterol levels." [HPO:probinson]
comment: Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome.
synonym: "Elevated levels of cholesta-5,7-dien-3beta-ol" EXACT []
xref: UMLS:C1849185
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration
created_by: sandra1
creation_date: 2009-10-19T08:49:58Z

[Term]
id: HP:0010570
name: Low maternal serum alpha-fetoprotein
def: "An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age." [HPO:probinson]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
synonym: "Low maternal serum alpha-fetoprotein" EXACT layperson []
xref: UMLS:C4023787
is_a: HP:0011436 ! Abnormal maternal serum screening
created_by: peter
creation_date: 2009-10-20T07:01:24Z

[Term]
id: HP:0010571
name: Elevated levels of phytanic acid
def: "An abnormal elevation of phytanic acid." [HPO:curators]
comment: Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things.
synonym: "Elevated levels of phytanic acid" EXACT layperson []
xref: UMLS:C4023786
is_a: HP:0010965 ! Abnormal circulating phytanic acid level
created_by: peter
creation_date: 2009-10-20T07:19:29Z

[Term]
id: HP:0010574
name: Abnormality of the epiphysis of the femoral head
alt_id: HP:0010589
def: "Any abnormality of the proximal epiphysis of the femur." [HPO:sdoelken]
comment: Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head.
synonym: "Abnormality of the end part of the innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the proximal femoral epiphysis" EXACT []
xref: UMLS:C4021252
is_a: HP:0003368 ! Abnormality of the femoral head
is_a: HP:0006499 ! Abnormality of femoral epiphysis
created_by: sandra1
creation_date: 2009-10-21T01:28:23Z

[Term]
id: HP:0010575
name: Dysplasia of the femoral head
def: "The presence of developmental dysplasia of the femoral head." [HPO:probinson]
synonym: "Abnormality of femoral head development" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Dysplastic femoral head" EXACT []
xref: UMLS:C4021251
xref: UMLS:C4280377
is_a: HP:0003368 ! Abnormality of the femoral head
created_by: sandra1
creation_date: 2009-10-21T01:30:40Z

[Term]
id: HP:0010576
name: Intracranial cystic lesion
def: "A cystic lesion originating within the brain." [HPO:probinson]
synonym: "Cerebral cystic malformation" EXACT []
xref: UMLS:C4021250
is_a: HP:0030724 ! Central nervous system cyst
created_by: sandra1
creation_date: 2009-10-22T01:38:49Z

[Term]
id: HP:0010577
name: Absent epiphyses
synonym: "Absent end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021862
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010578
name: Bracket epiphyses
synonym: "Bracket shaped end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023785
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010579
name: Cone-shaped epiphysis
alt_id: HP:0000937
alt_id: HP:0006078
def: "Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery." [HPO:probinson]
synonym: "Cone-shaped end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped epiphyses" EXACT []
xref: UMLS:C1865037
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010580
name: Enlarged epiphyses
alt_id: HP:0003018
alt_id: HP:0003055
alt_id: HP:0005082
def: "Increased size of epiphyses." [HPO:probinson]
synonym: "Large end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Large epiphyses" EXACT []
synonym: "Widened, distorted epiphyses" EXACT []
xref: UMLS:C1833328
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010582
name: Irregular epiphyses
alt_id: HP:0002765
alt_id: HP:0003039
alt_id: HP:0005007
alt_id: HP:0005023
alt_id: HP:0005749
alt_id: HP:0010581
def: "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance." [HPO:probinson]
synonym: "Irregular end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846449
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010583
name: Ivory epiphyses
def: "Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:sdoelken]
synonym: "Epiphyseal sclerosis" EXACT []
synonym: "Increased bone density in end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856911
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010584
name: Pseudoepiphyses
xref: UMLS:C1841685
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010585
name: Small epiphyses
alt_id: HP:0005730
def: "Reduction in the size or volume of epiphyses." [HPO:probinson]
synonym: "Small end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1846803
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010587
name: Triangular epiphyses
synonym: "Triangular end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023784
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010588
name: Premature epimetaphyseal fusion
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson, pmid:12624140]
comment: The epiphysis is the rounded end of a long bone, at its joint with adjacent bone.
synonym: "Premature closure of epiphyses" EXACT []
xref: SNOMEDCT_US:89493005
xref: UMLS:C0151628
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T02:53:19Z

[Term]
id: HP:0010590
name: Abnormality of the distal femoral epiphysis
def: "Any abnormality of the distal epiphysis of the femur." [HPO:probinson]
synonym: "Abnormality of the end part of the outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023783
is_a: HP:0006499 ! Abnormality of femoral epiphysis
created_by: sandra1
creation_date: 2009-10-22T03:00:23Z

[Term]
id: HP:0010591
name: Abnormality of the proximal tibial epiphysis
def: "Any abnormality of the proximal epiphysis of the tibia." [HPO:curators]
synonym: "Abnormality of the end part of innermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of innermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023782
is_a: HP:0006508 ! Abnormality of tibial epiphyses
created_by: sandra1
creation_date: 2009-10-22T03:03:04Z

[Term]
id: HP:0010592
name: Abnormality of the distal tibial epiphysis
synonym: "Abnormality of the end part of outermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of outermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023781
is_a: HP:0006508 ! Abnormality of tibial epiphyses
created_by: sandra1
creation_date: 2009-10-22T03:03:04Z

[Term]
id: HP:0010593
name: Abnormality of fibular epiphyses
synonym: "Abnormality of the end part of the calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023780
is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology
created_by: sandra1
creation_date: 2009-10-22T03:03:34Z

[Term]
id: HP:0010594
name: Abnormality of the proximal fibular epiphysis
def: "Any abnormality of the proximal epiphysis of the fibula." [HPO:curators]
synonym: "Abnormality of the innermost end part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023779
is_a: HP:0010593 ! Abnormality of fibular epiphyses
created_by: sandra1
creation_date: 2009-10-22T03:04:39Z

[Term]
id: HP:0010595
name: Abnormality of the distal fibular epiphysis
def: "Any abnormality of the distal epiphysis of the fibula." [HPO:curators]
synonym: "Abnormality of the outermost end part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023778
is_a: HP:0010593 ! Abnormality of fibular epiphyses
created_by: sandra1
creation_date: 2009-10-22T03:04:39Z

[Term]
id: HP:0010596
name: Abnormality of the proximal radial epiphysis
def: "Any abnormality of the proximal epiphysis of the radius." [HPO:curators]
xref: UMLS:C4023777
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow
is_a: HP:0003999 ! Abnormality of radial epiphyses
created_by: sandra1
creation_date: 2009-10-22T03:06:29Z

[Term]
id: HP:0010597
name: Abnormality of the distal radial epiphysis
def: "Any abnormality of the distal epiphysis of the radius." [HPO:curators]
xref: UMLS:C4023776
is_a: HP:0003999 ! Abnormality of radial epiphyses
created_by: sandra1
creation_date: 2009-10-22T03:06:29Z

[Term]
id: HP:0010598
name: Abnormality of the proximal humeral epiphysis
def: "Any abnormality of the proximal epiphysis of the humerus." [HPO:curators]
synonym: "Abnormality of the end part of the innermost long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023775
is_a: HP:0003891 ! Abnormality of the humeral epiphysis
created_by: sandra1
creation_date: 2009-10-22T06:40:29Z

[Term]
id: HP:0010599
name: Abnormality of the distal humeral epiphysis
def: "Any abnormality of the distal epiphysis of the humerus." [HPO:curators]
synonym: "Abnormality of the end part of the outermost long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023774
is_a: HP:0003891 ! Abnormality of the humeral epiphysis
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow
created_by: sandra1
creation_date: 2009-10-22T06:40:29Z

[Term]
id: HP:0010600
name: Abnormality of the distal ulnar epiphysis
def: "Any abnormality of the distal epiphysis of the ulna." [HPO:curators]
xref: UMLS:C4023773
is_a: HP:0004037 ! Abnormality of the ulnar epiphyses
created_by: sandra1
creation_date: 2009-10-22T06:41:21Z

[Term]
id: HP:0010601
name: Abnormality of the proximal ulnar epiphysis
def: "Any abnormality of the proximal epiphysis of the ulna." [HPO:curators]
xref: UMLS:C4023772
is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow
is_a: HP:0004037 ! Abnormality of the ulnar epiphyses
created_by: sandra1
creation_date: 2009-10-22T06:41:21Z

[Term]
id: HP:0010602
name: Type 2 muscle fiber predominance
def: "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:probinson]
synonym: "Type II muscle fiber predominance" EXACT []
xref: UMLS:C3277187
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: peter
creation_date: 2009-10-25T09:56:24Z

[Term]
id: HP:0010603
name: Odontogenic keratocysts of the jaw
def: "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour." [HPO:curators, pmid:18353202]
comment: Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla.
synonym: "Keratocystic odontogenic tumor" EXACT []
synonym: "Keratocysts of the jaw" EXACT [HPO:skoehler]
xref: UMLS:C1708604
is_a: HP:0100612 ! Odontogenic neoplasm
created_by: sandra1
creation_date: 2009-10-27T02:26:31Z

[Term]
id: HP:0010604
name: Cyst of the eyelid
synonym: "Cyst of the eyelid" EXACT layperson []
synonym: "Eyelid bump" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Eyelid mass" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Lesion of the eyelid" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:248514008
xref: SNOMEDCT_US:301913002
xref: SNOMEDCT_US:46210008
xref: UMLS:C0155218
xref: UMLS:C0424844
xref: UMLS:C0578590
is_a: HP:0010732 ! Nodular changes affecting the eyelids
is_a: HP:0200040 ! Epidermoid cyst
created_by: sandra1
creation_date: 2009-10-27T10:57:50Z

[Term]
id: HP:0010605
name: Chalazion
def: "A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes." [HPO:probinson]
synonym: "Meibomian gland lipogranuloma" EXACT [HPO:curators]
xref: MSH:D017043
xref: SNOMEDCT_US:1482004
xref: UMLS:C0007933
is_a: HP:0010604 ! Cyst of the eyelid
created_by: sandra1
creation_date: 2009-10-27T10:58:24Z

[Term]
id: HP:0010606
name: Hordeolum
def: "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling." [HPO:sdoelken]
synonym: "Red bump on eyelid" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Stye of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D006726
xref: SNOMEDCT_US:1489008
xref: SNOMEDCT_US:397513003
xref: UMLS:C0019917
xref: UMLS:C4280376
is_a: HP:0010732 ! Nodular changes affecting the eyelids
created_by: sandra1
creation_date: 2009-10-27T11:01:13Z

[Term]
id: HP:0010607
name: Hordeolum externum
def: "Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling." [HPO:curators]
xref: SNOMEDCT_US:1489008
xref: UMLS:C0019919
is_a: HP:0010606 ! Hordeolum
created_by: sandra1
creation_date: 2009-10-27T11:33:07Z

[Term]
id: HP:0010608
name: Hordeolum internum
def: "Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling." [HPO:curators]
synonym: "Red bump on inner eyelid" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Stye of inner eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:414521009
xref: UMLS:C0085690
xref: UMLS:C4280375
is_a: HP:0010606 ! Hordeolum
created_by: sandra1
creation_date: 2009-10-27T11:33:25Z

[Term]
id: HP:0010609
name: Skin tags
def: "Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region." [HPO:sdoelken]
synonym: "Acrochorda" EXACT []
xref: SNOMEDCT_US:201091002
xref: SNOMEDCT_US:31069005
xref: SNOMEDCT_US:80801001
xref: UMLS:C0037293
is_a: HP:0011355 ! Localized skin lesion
created_by: sandra1
creation_date: 2009-10-27T11:41:03Z

[Term]
id: HP:0010610
name: Palmar pits
xref: SNOMEDCT_US:247449001
xref: UMLS:C0423776
is_a: HP:0040211 ! Abnormality of the skin of the palm
is_a: HP:0100276 ! Skin pit
created_by: sandra1
creation_date: 2009-10-28T01:23:05Z

[Term]
id: HP:0010612
name: Plantar pits
def: "The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot." [HPO:probinson]
xref: UMLS:C1852301
is_a: HP:0100276 ! Skin pit
is_a: HP:0100872 ! Abnormality of the plantar skin of foot
created_by: sandra1
creation_date: 2009-10-28T01:25:57Z

[Term]
id: HP:0010614
name: Fibroma
def: "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors." [HPO:curators]
xref: MSH:D005350
xref: NCIT:C3041
xref: SNOMEDCT_US:112682009
xref: SNOMEDCT_US:424568000
xref: UMLS:C0016045
is_a: HP:0012316 ! Fibrous tissue neoplasm
is_a: HP:0030448 ! Soft tissue sarcoma
created_by: sandra1
creation_date: 2009-10-28T05:52:39Z

[Term]
id: HP:0010615
name: Angiofibromas
def: "Angiofibroma consist of many often dilated vessels." [HPO:curators]
xref: MSH:D018322
xref: NCIT:C3799
xref: SNOMEDCT_US:302857002
xref: SNOMEDCT_US:60392001
xref: UMLS:C0206731
is_a: HP:0010614 ! Fibroma
created_by: sandra1
creation_date: 2009-10-28T06:00:14Z

[Term]
id: HP:0010616
name: Lung fibroma
def: "The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule." [HPO:curators]
xref: NCIT:C3041
xref: SNOMEDCT_US:707387004
xref: UMLS:C1334444
is_a: HP:0010614 ! Fibroma
is_a: HP:0100526 ! Neoplasm of the lung
created_by: sandra1
creation_date: 2009-10-28T06:04:01Z

[Term]
id: HP:0010617
name: Cardiac fibroma
def: "A fibroma of the heart." [HPO:probinson]
xref: NCIT:C3041
xref: UMLS:C1096654
is_a: HP:0010614 ! Fibroma
is_a: HP:0100544 ! Neoplasm of the heart
created_by: sandra1
creation_date: 2009-10-28T06:13:11Z

[Term]
id: HP:0010618
name: Ovarian fibroma
def: "The presence of a fibroma of the ovary." [HPO:probinson]
comment: Ovarian fibromas belong to the sex cord-stromal tumour group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan.
xref: MSH:C562391
xref: NCIT:C3041
xref: SNOMEDCT_US:254865006
xref: UMLS:C0149951
is_a: HP:0010614 ! Fibroma
is_a: HP:0100615 ! Ovarian neoplasm
created_by: sandra1
creation_date: 2009-10-28T06:13:11Z

[Term]
id: HP:0010619
name: Fibroadenoma of the breast
def: "A benign biphasic tumor of the breast with epithelial and stromal components." [HPO:probinson, pmid:23396888]
comment: A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman.
synonym: "Breast fibroadenoma" EXACT []
synonym: "Breast fibroadenomas" EXACT [HPO:skoehler]
xref: NCIT:C3041
xref: SNOMEDCT_US:254845004
xref: UMLS:C0178421
is_a: HP:0010614 ! Fibroma
is_a: HP:0100013 ! Neoplasm of the breast
created_by: sandra1
creation_date: 2009-10-28T06:13:11Z

[Term]
id: HP:0010620
name: Malar prominence
alt_id: HP:0000310
def: "Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face." [DDD:jclayton-smith]
comment: Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle.
subset: hposlim_core
synonym: "Cheekbone prominence" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of malar bones" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malar excess" EXACT []
synonym: "Malar hyperplasia" EXACT []
synonym: "Prominent malar region" EXACT []
xref: UMLS:C1858732
xref: UMLS:C4280374
is_a: HP:0012369 ! Abnormality of malar bones
created_by: peter
creation_date: 2009-11-02T07:53:02Z

[Term]
id: HP:0010621
name: Cutaneous syndactyly of toes
alt_id: HP:0001990
alt_id: HP:0004707
alt_id: HP:0010555
def: "A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria." [HPO:probinson, pmid:19125433]
subset: hposlim_core
synonym: "Cutaneous syndactyly of feet" EXACT []
synonym: "soft tissue syndactyly of toes" EXACT []
synonym: "Webbed skin of toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834737
is_a: HP:0001770 ! Toe syndactyly
is_a: HP:0012725 ! Cutaneous syndactyly
created_by: doelkens
creation_date: 2009-11-18T10:32:21Z

[Term]
id: HP:0010622
name: Neoplasm of the skeletal system
def: "A tumor (abnormal growth of tissue) of the skeleton." [HPO:probinson]
synonym: "Bone neoplasm" RELATED []
synonym: "Neoplasia of the skeletal system" NARROW []
synonym: "Skeletal tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: NCIT:C3262
xref: SNOMEDCT_US:442868003
xref: UMLS:C2732838
xref: UMLS:C4020771
is_a: HP:0011793 ! Neoplasm by anatomical site
is_a: HP:0011842 ! Abnormality of skeletal morphology
created_by: peter
creation_date: 2010-06-25T08:54:46Z

[Term]
id: HP:0010624
name: Aplastic/hypoplastic toenail
alt_id: HP:0008381
alt_id: HP:0008389
def: "Absence or underdevelopment of the toenail." [HPO:probinson]
synonym: "Absent/small toenails" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped toenails" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplastic/hypoplastic toenails" EXACT []
synonym: "Hypoplastic-absent toenails" EXACT []
xref: UMLS:C1856749
is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails
is_a: HP:0008388 ! Abnormal toenail morphology
created_by: doelkens
creation_date: 2009-11-20T05:55:11Z

[Term]
id: HP:0010625
name: Anterior pituitary dysgenesis
def: "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis." [DDD:spark, HPO:probinson]
synonym: "Adenohypophysis" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D010903
xref: SNOMEDCT_US:62818001
xref: UMLS:C0032008
xref: UMLS:C4023771
is_a: HP:0011747 ! Abnormality of the anterior pituitary
created_by: peter
creation_date: 2009-12-05T03:03:17Z

[Term]
id: HP:0010626
name: Anterior pituitary agenesis
def: "Absence of the pituitary gland resulting from a developmental defect." [DDD:spark, HPO:probinson]
synonym: "Absent pituitary gland" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the pituitary gland" EXACT []
xref: UMLS:C4021249
is_a: HP:0010625 ! Anterior pituitary dysgenesis
created_by: peter
creation_date: 2009-12-05T03:04:20Z

[Term]
id: HP:0010627
name: Anterior pituitary hypoplasia
alt_id: HP:0008238
def: "Underdevelopment of the anterior pituitary gland." [DDD:spark, HPO:probinson]
synonym: "Hypoplasia of the pituitary gland" RELATED []
synonym: "Underdeveloped pituitary gland" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0948740
xref: UMLS:C1859775
is_a: HP:0010625 ! Anterior pituitary dysgenesis
created_by: peter
creation_date: 2009-12-05T03:04:48Z

[Term]
id: HP:0010628
name: Facial palsy
alt_id: HP:0000296
alt_id: HP:0000302
alt_id: HP:0000344
alt_id: HP:0000353
alt_id: HP:0002008
alt_id: HP:0002259
alt_id: HP:0002517
alt_id: HP:0004670
alt_id: HP:0007212
alt_id: HP:0200004
def: "Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form." [HPO:sdoelken]
comment: Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis.
subset: hposlim_core
synonym: "Bell's palsy" EXACT layperson []
synonym: "Cranial nerve VII palsy" EXACT []
synonym: "Facial muscle weakness of muscles innervated by CN VII" RELATED []
synonym: "Facial nerve palsy" EXACT []
synonym: "Facial nerve paralysis" EXACT []
synonym: "Facial palsy, unilateral or bilateral" EXACT []
synonym: "Seventh cranial nerve palsy" EXACT []
synonym: "VII th cranial nerve palsy" EXACT []
xref: MSH:D005158
xref: MSH:D020330
xref: SNOMEDCT_US:193093009
xref: SNOMEDCT_US:95666008
xref: UMLS:C0376175
xref: UMLS:C0427055
xref: UMLS:C1858719
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0006824 ! Cranial nerve paralysis
is_a: HP:0010827 ! Abnormality of the seventh cranial nerve
is_a: HP:0030319 ! Weakness of facial musculature
created_by: peter
creation_date: 2009-12-06T05:08:30Z

[Term]
id: HP:0010629
name: Abnormal morphology of the cortex of the humerus
def: "Any abnormality affecting the cortex of the humerus." [HPO:curators]
xref: UMLS:C4023770
is_a: HP:0003103 ! Abnormal cortical bone morphology
is_a: HP:0031095 ! Abnormal humerus morphology
created_by: peter
creation_date: 2009-12-06T05:45:26Z

[Term]
id: HP:0010630
name: Abnormality of metatarsal epiphysis
def: "Any abnormality of a metatarsal bone epiphysis." [HPO:curators]
synonym: "Abnormality of end part of long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the epiphyses of the metatarsals" EXACT []
xref: UMLS:C4021248
is_a: HP:0001832 ! Abnormal metatarsal morphology
is_a: HP:0010631 ! Abnormality of the epiphyses of the feet
created_by: peter
creation_date: 2009-12-06T05:58:36Z

[Term]
id: HP:0010631
name: Abnormality of the epiphyses of the feet
def: "Any abnormality of the epiphyses of the feet." [HPO:curators]
synonym: "Abnormality of the end part of the foot bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023769
is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology
created_by: peter
creation_date: 2009-12-06T06:00:04Z

[Term]
id: HP:0010632
name: Total anosmia
def: "Inability to detect any qualitative olfactory sensation." [HPO:curators]
xref: UMLS:C4023768
is_a: HP:0000458 ! Anosmia
created_by: peter
creation_date: 2009-12-06T07:51:50Z

[Term]
id: HP:0010633
name: Partial anosmia
def: "Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [HPO:curators]
xref: UMLS:C4023767
is_a: HP:0000458 ! Anosmia
created_by: peter
creation_date: 2009-12-06T07:52:37Z

[Term]
id: HP:0010634
name: Total hyposmia
def: "Reduced ability to detect any qualitative olfactory sensation." [HPO:curators]
xref: UMLS:C4023766
is_a: HP:0004409 ! Hyposmia
created_by: peter
creation_date: 2009-12-06T07:54:13Z

[Term]
id: HP:0010635
name: Partial hyposmia
def: "Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [HPO:probinson]
xref: UMLS:C4023765
is_a: HP:0004409 ! Hyposmia
created_by: peter
creation_date: 2009-12-06T07:54:13Z

[Term]
id: HP:0010636
name: Schizencephaly
def: "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [HPO:curators]
xref: MSH:D065707
xref: SNOMEDCT_US:253159001
xref: SNOMEDCT_US:38353004
xref: UMLS:C0266484
is_a: HP:0002060 ! Abnormality of the cerebrum
created_by: peter
creation_date: 2009-12-06T08:05:54Z

[Term]
id: HP:0010637
name: Conjunctival amyloidosis
def: "A form of amyloidosis that affects the conjunctiva." [HPO:probinson]
comment: The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue.
xref: SNOMEDCT_US:59017008
xref: UMLS:C0268402
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0011034 ! Amyloidosis
created_by: peter
creation_date: 2009-12-07T03:20:51Z

[Term]
id: HP:0010638
name: Elevated alkaline phosphatase of hepatic origin
def: "An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson]
synonym: "Elevated ALP of hepatic origin" EXACT HP:0045077 []
xref: UMLS:C4023764
is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase
created_by: doelkens
creation_date: 2009-12-11T03:47:19Z

[Term]
id: HP:0010639
name: Elevated alkaline phosphatase of bone origin
alt_id: HP:0008266
def: "An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson]
comment: Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme.
synonym: "Elevated alkaline phosphatase of bone origin" EXACT layperson []
synonym: "Elevated ALP of bone origin" EXACT HP:0045077 []
synonym: "Increased serum bone-specific alkaline phosphatase" EXACT layperson []
xref: UMLS:C1833667
is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase
created_by: doelkens
creation_date: 2009-12-11T03:47:19Z

[Term]
id: HP:0010640
name: Abnormality of the nasal cavity
def: "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures)." [HPO:curators]
xref: UMLS:C4023763
is_a: HP:0000366 ! Abnormality of the nose
created_by: doelkens
creation_date: 2009-12-17T04:56:17Z

[Term]
id: HP:0010641
name: Abnormality of the midnasal cavity
def: "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae." [HPO:curators]
xref: UMLS:C4021861
is_a: HP:0010640 ! Abnormality of the nasal cavity
created_by: doelkens
creation_date: 2009-12-17T04:58:21Z

[Term]
id: HP:0010643
name: Midnasal atresia
def: "Absence or abnormal closure of the midnasal cavity." [HPO:curators]
xref: UMLS:C4023762
is_a: HP:0010644 ! Midnasal stenosis
created_by: doelkens
creation_date: 2009-12-17T05:06:01Z

[Term]
id: HP:0010644
name: Midnasal stenosis
alt_id: HP:0010642
def: "Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress." [HPO:probinson]
synonym: "Midnasal atresia or stenosis" EXACT []
xref: UMLS:C1840238
is_a: HP:0010641 ! Abnormality of the midnasal cavity
created_by: doelkens
creation_date: 2009-12-17T05:06:01Z

[Term]
id: HP:0010645
name: Aplasia of the distal phalanges of the toes
def: "Absence of the distal phalanges of the toes." [HPO:curators]
synonym: "Absent outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023761
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
created_by: peter
creation_date: 2010-02-17T02:41:47Z

[Term]
id: HP:0010646
name: Cervical spine instability
def: "An abnormal lack of stability of the cervical spine." [HPO:curators]
comment: The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability.
xref: SNOMEDCT_US:202821008
xref: UMLS:C0410652
is_a: HP:0003319 ! Abnormality of the cervical spine
created_by: doelkens
creation_date: 2010-02-23T11:15:32Z

[Term]
id: HP:0010647
name: Abnormal elasticity of skin
def: "Any abnormal increase or reduction in skin elasticity." [DDD:cmoss]
xref: UMLS:C4023760
is_a: HP:0011121 ! Abnormality of skin morphology
created_by: doelkens
creation_date: 2010-02-23T11:42:34Z

[Term]
id: HP:0010648
name: Dermal translucency
def: "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility." [HPO:probinson]
subset: hposlim_core
synonym: "Translucent skin" EXACT []
xref: UMLS:C1836646
is_a: HP:0011121 ! Abnormality of skin morphology
created_by: doelkens
creation_date: 2010-02-23T11:50:37Z

[Term]
id: HP:0010649
name: Flat nasal alae
def: "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)." [HPO:probinson]
synonym: "Depressed nasal alae" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Flat nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023759
is_a: HP:0000429 ! Abnormality of the nasal alae
created_by: peter
creation_date: 2010-02-25T10:01:47Z

[Term]
id: HP:0010650
name: Hypoplasia of the premaxilla
def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436]
subset: hposlim_core
synonym: "Decreased size of premaxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Premaxillary bone deficiency" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Premaxillary bone retrusion" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Premaxillary retrusion" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Premaxillary underdevelopment" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Primary palate bone deficiency" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Primary palate bone retrusion" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Small premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of premaxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4020770
xref: UMLS:C4072878
is_a: HP:0002692 ! Hypoplastic facial bones
is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla
created_by: peter
creation_date: 2010-02-25T10:11:43Z

[Term]
id: HP:0010651
name: Abnormal meningeal morphology
def: "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater." [HPO:probinson]
synonym: "Abnormality of the meninges" EXACT []
xref: UMLS:C4023758
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
created_by: peter
creation_date: 2010-02-25T10:19:40Z

[Term]
id: HP:0010652
name: Abnormal dura mater morphology
def: "An abnormality of the Dura mater." [HPO:probinson]
synonym: "Abnormality of the dura mater" EXACT []
xref: UMLS:C4023757
is_a: HP:0010651 ! Abnormal meningeal morphology
created_by: peter
creation_date: 2010-02-25T10:29:40Z

[Term]
id: HP:0010653
name: Abnormality of the falx cerebri
def: "An abnormality of the Falx cerebri." [HPO:probinson]
comment: The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres.
synonym: "Abnormality of the cerebral falx" EXACT []
xref: UMLS:C4021247
is_a: HP:0010652 ! Abnormal dura mater morphology
created_by: peter
creation_date: 2010-02-25T10:32:52Z

[Term]
id: HP:0010654
name: Aplasia of the falx cerebri
def: "A developmental defect characterized by aplasia of the Falx cerebri." [HPO:probinson]
synonym: "Absent cerebral falx" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023756
is_a: HP:0010653 ! Abnormality of the falx cerebri
created_by: peter
creation_date: 2010-02-25T10:35:26Z

[Term]
id: HP:0010655
name: Epiphyseal stippling
alt_id: HP:0002658
alt_id: HP:0010586
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses." [HPO:probinson]
comment: Stippling resolves with maturation of the epiphysis but is often replaced by some permament epiphyseal abnormality.
synonym: "Epiphyseal punctate calcifications" EXACT []
synonym: "Speckled calcifications in end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stippled epiphyses" EXACT []
synonym: "Stippling of the epiphyses" EXACT []
xref: SNOMEDCT_US:360507004
xref: UMLS:C1859126
is_a: HP:0005930 ! Abnormality of epiphysis morphology
is_a: HP:0010656 ! Abnormal epiphyseal ossification
is_a: HP:0010766 ! Ectopic calcification
created_by: doelkens
creation_date: 2010-02-25T09:41:24Z

[Term]
id: HP:0010656
name: Abnormal epiphyseal ossification
def: "An abnormality of the formation and mineralization of an epiphysis." [HPO:probinson]
synonym: "Abnormal maturation of the end part of a bone" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the mineralisation or ossification of the epiphyses" EXACT []
xref: UMLS:C4021246
is_a: HP:0003336 ! Abnormal enchondral ossification
created_by: doelkens
creation_date: 2010-02-25T09:43:04Z

[Term]
id: HP:0010657
name: Patchy reduction of bone mineral density
def: "Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators]
xref: UMLS:C4023755
is_a: HP:0002797 ! Osteolysis
is_a: HP:0004349 ! Reduced bone mineral density
is_a: HP:0010658 ! Patchy changes of bone mineral density
created_by: doelkens
creation_date: 2010-02-25T10:32:54Z

[Term]
id: HP:0010658
name: Patchy changes of bone mineral density
def: "Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density)." [HPO:curators]
xref: UMLS:C4023754
is_a: HP:0004348 ! Abnormality of bone mineral density
created_by: doelkens
creation_date: 2010-02-25T10:42:39Z

[Term]
id: HP:0010659
name: Patchy variation in bone mineral density
def: "Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays." [HPO:probinson]
synonym: "Patchy increased and decreased bone mineral density" EXACT layperson []
xref: UMLS:C4021245
is_a: HP:0004349 ! Reduced bone mineral density
is_a: HP:0010658 ! Patchy changes of bone mineral density
created_by: doelkens
creation_date: 2010-02-25T10:49:23Z

[Term]
id: HP:0010660
name: Abnormal hand bone ossification
alt_id: HP:0005921
def: "An abnormality of the formation and mineralization of any bone of the skeleton of hand." [HPO:probinson]
synonym: "Abnormal maturation of the hand bones" RELATED layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal ossification of hand bones" EXACT []
synonym: "Abnormality of the mineralisation and ossification of bones of the hand" EXACT []
xref: UMLS:C4021244
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0003336 ! Abnormal enchondral ossification
created_by: doelkens
creation_date: 2010-02-25T05:18:19Z

[Term]
id: HP:0010661
name: Absence of the third cerebral ventricle
def: "A developmental defect characterized by the absence of the Third ventricle." [HPO:probinson]
xref: UMLS:C4023753
is_a: HP:0010951 ! Abnormality of the third ventricle
created_by: peter
creation_date: 2010-02-26T08:00:47Z

[Term]
id: HP:0010662
name: Abnormality of the diencephalon
def: "An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain." [HPO:probinson]
comment: The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum.
xref: UMLS:C4023752
is_a: HP:0100547 ! Abnormality of forebrain morphology
created_by: peter
creation_date: 2010-02-26T08:02:38Z

[Term]
id: HP:0010663
name: Abnormality of thalamus morphology
def: "An abnormality of the thalamus." [HPO:probinson]
synonym: "Abnormal shape of thalamus" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the thalamus" EXACT []
xref: UMLS:C4021243
is_a: HP:0010662 ! Abnormality of the diencephalon
created_by: peter
creation_date: 2010-02-26T08:03:50Z

[Term]
id: HP:0010664
name: Fusion of the left and right thalami
def: "A developmental defect characterized by fusion of the left and right halves of the thalamus." [HPO:probinson]
synonym: "Fused thalami" EXACT []
synonym: "Fusion of thamali" RELATED []
synonym: "Undivided thalami" EXACT []
xref: UMLS:C1834930
xref: UMLS:C4020769
is_a: HP:0010663 ! Abnormality of thalamus morphology
created_by: peter
creation_date: 2010-02-26T08:04:37Z

[Term]
id: HP:0010665
name: Bilateral coxa valga
def: "The presence of bilateral coxa_valga." [HPO:probinson]
xref: UMLS:C3810018
is_a: HP:0002673 ! Coxa valga
created_by: peter
creation_date: 2010-02-26T08:07:03Z

[Term]
id: HP:0010666
name: Hypoplasia of the anterior nasal spine
def: "Underdevelopment of the anterior nasal spine of maxilla." [HPO:probinson]
synonym: "Decreased length of anterior nasal spine" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Decreased projection of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deficiency of anterior nasal spine" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic anterior nasal spine" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023751
xref: UMLS:C4280372
xref: UMLS:C4280373
is_a: HP:0000327 ! Hypoplasia of the maxilla
created_by: peter
creation_date: 2010-02-26T08:10:11Z

[Term]
id: HP:0010667
name: Aplasia of the maxilla
def: "A congenital defect characterized by absence of the Maxilla." [HPO:probinson]
synonym: "Absence of the maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Absence of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of the maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of the upper jaw bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of upper jaw bones" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023750
xref: UMLS:C4280371
is_a: HP:0000326 ! Abnormality of the maxilla
is_a: HP:0040008 ! Aplasia of facial bones
created_by: peter
creation_date: 2010-02-26T08:11:45Z

[Term]
id: HP:0010668
name: Abnormality of the zygomatic bone
def: "An abnormality of the zygomatic bone." [HPO:curators]
synonym: "Abnormality of the cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the cheekbone" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023749
is_a: HP:0011821 ! Abnormality of facial skeleton
created_by: peter
creation_date: 2010-02-26T08:13:11Z

[Term]
id: HP:0010669
name: Hypoplasia of the zygomatic bone
def: "Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436]
synonym: "Cheekbone underdevelopment" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of zygomatic bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Depressed cheekbone" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Depressed zygomatic bone" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Flattening of the zygomatic bone" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypoplasia of cheekbone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic cheekbone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic zygomatic bone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophy of the cheekbone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophy of the zygomatic bone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Small cheekbone" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Small malar bone" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Small zygomatic bone" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of zygomatic bone" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021242
xref: UMLS:C4072879
xref: UMLS:C4280368
xref: UMLS:C4280369
xref: UMLS:C4280370
is_a: HP:0002692 ! Hypoplastic facial bones
is_a: HP:0010668 ! Abnormality of the zygomatic bone
created_by: peter
creation_date: 2010-02-26T08:14:04Z

[Term]
id: HP:0010672
name: Abnormality of the third metatarsal bone
def: "An abnormality of the third metatarsal bone." [HPO:probinson]
synonym: "Abnormality of the 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023748
is_a: HP:0001832 ! Abnormal metatarsal morphology
created_by: peter
creation_date: 2010-02-26T08:22:51Z

[Term]
id: HP:0010674
name: Abnormality of the curvature of the vertebral column
def: "The presence of an abnormal curvature of the vertebral column." [HPO:probinson]
synonym: "Abnormal curve of the backbone" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Abnormal curve of the spine" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023747
is_a: HP:0000925 ! Abnormality of the vertebral column
created_by: sandra1
creation_date: 2010-02-27T06:28:19Z

[Term]
id: HP:0010675
name: Abnormal foot bone ossification
alt_id: HP:0008370
alt_id: HP:0009133
def: "An abnormality of the formation and mineralization of any bone of the skeleton of foot." [HPO:probinson]
synonym: "Abnormal maturation of foot bones" RELATED [ORCID:0000-0001-5208-3432]
synonym: "Abnormal ossification involving bones of the feet" RELATED []
synonym: "Abnormality of the mineralisation and ossification of bones of the feet" EXACT []
xref: UMLS:C4020768
xref: UMLS:C4021241
xref: UMLS:C4280367
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0003336 ! Abnormal enchondral ossification
created_by: sandra1
creation_date: 2010-02-28T05:27:47Z

[Term]
id: HP:0010676
name: Mechanical ileus
xref: SNOMEDCT_US:46420000
xref: UMLS:C0400843
is_a: HP:0002595 ! Ileus
created_by: sandra1
creation_date: 2010-03-01T08:43:38Z

[Term]
id: HP:0010677
name: Enuresis nocturna
def: "Enuresis occurring during sleeping hours." [HPO:sdoelken]
synonym: "Nocturnal enuresis" EXACT []
xref: MSH:D053206
xref: SNOMEDCT_US:8009008
xref: UMLS:C0270327
is_a: HP:0000805 ! Enuresis
created_by: sandra1
creation_date: 2010-03-01T09:11:31Z

[Term]
id: HP:0010678
name: Enuresis diurna
def: "Enuresis occurring during waking hours of the day." [HPO:sdoelken]
xref: UMLS:C4023746
is_a: HP:0000805 ! Enuresis
created_by: sandra1
creation_date: 2010-03-01T09:11:51Z

[Term]
id: HP:0010679
name: Elevated tissue non-specific alkaline phosphatase
def: "An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson]
comment: Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL ).
synonym: "Elevated alkaline phosphatase, liver/bone/kidney" EXACT []
synonym: "Elevated tissue non-specific ALP" EXACT HP:0045077 []
xref: UMLS:C4021240
is_a: HP:0003155 ! Elevated alkaline phosphatase
created_by: doelkens
creation_date: 2010-03-05T11:08:35Z

[Term]
id: HP:0010680
name: Elevated alkaline phosphatase of renal origin
def: "An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson]
synonym: "Elevated ALP of renal origin" EXACT HP:0045077 []
xref: UMLS:C4023745
is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase
is_a: HP:0012211 ! Abnormal renal physiology
created_by: doelkens
creation_date: 2010-03-05T11:09:59Z

[Term]
id: HP:0010681
name: Elevated intestinal alkaline phosphatase
def: "An abnormally increased level of alkaline phosphatase, intestinal type in the blood." [HPO:probinson]
comment: Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN).
synonym: "Elevated intestinal ALP" EXACT HP:0045077 []
xref: UMLS:C4023744
is_a: HP:0003155 ! Elevated alkaline phosphatase
created_by: doelkens
creation_date: 2010-03-05T11:10:34Z

[Term]
id: HP:0010682
name: Elevated placental alkaline phosphatase
def: "An abnormally increased level of alkaline phosphatase, placental type in the blood." [HPO:probinson]
comment: Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN).
synonym: "Elevated placental ALP" EXACT HP:0045077 []
xref: UMLS:C4023743
is_a: HP:0003155 ! Elevated alkaline phosphatase
created_by: doelkens
creation_date: 2010-03-05T11:11:06Z

[Term]
id: HP:0010683
name: Low tissue non-specific alkaline phosphatase
def: "An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson]
synonym: "Low tissue non-specific ALP" EXACT HP:0045077 []
xref: UMLS:C4023742
is_a: HP:0003282 ! Low alkaline phosphatase
created_by: doelkens
creation_date: 2010-03-05T11:12:08Z

[Term]
id: HP:0010684
name: Low alkaline phosphatase of bone origin
def: "An abnormally reduced level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson]
synonym: "Low ALP of bone origin" EXACT HP:0045077 []
xref: UMLS:C4023741
is_a: HP:0003282 ! Low alkaline phosphatase
created_by: doelkens
creation_date: 2010-03-05T11:12:47Z

[Term]
id: HP:0010685
name: Low alkaline phosphatase of renal origin
def: "An abnormally reduced level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson]
synonym: "Low ALP of renal origin" EXACT HP:0045077 []
xref: UMLS:C4023740
is_a: HP:0003282 ! Low alkaline phosphatase
is_a: HP:0012211 ! Abnormal renal physiology
created_by: doelkens
creation_date: 2010-03-05T11:12:47Z

[Term]
id: HP:0010686
name: Low alkaline phosphatase of hepatic origin
def: "An abnormally reduced level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson]
synonym: "Low ALP of hepatic origin" EXACT HP:0045077 []
xref: UMLS:C4023739
is_a: HP:0003282 ! Low alkaline phosphatase
created_by: doelkens
creation_date: 2010-03-05T11:12:47Z

[Term]
id: HP:0010687
name: Low intestinal alkaline phosphatase
def: "An abnormally reduced level of alkaline phosphatase, intestinal type in the blood." [HPO:probinson]
synonym: "Low intestinal ALP" EXACT HP:0045077 []
xref: UMLS:C4023738
is_a: HP:0003282 ! Low alkaline phosphatase
created_by: doelkens
creation_date: 2010-03-05T11:13:10Z

[Term]
id: HP:0010688
name: Low placental alkaline phosphatase
def: "An abnormally reduced level of alkaline phosphatase, placental type in the blood." [HPO:probinson]
synonym: "Low placental ALP" EXACT HP:0045077 []
xref: UMLS:C4023737
is_a: HP:0003282 ! Low alkaline phosphatase
created_by: doelkens
creation_date: 2010-03-05T11:13:28Z

[Term]
id: HP:0010689
name: Mirror image polydactyly
def: "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes." [HPO:sdoelken, pmid:19125433]
comment: Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA.
synonym: "Mirror image duplication of digits" EXACT []
xref: MSH:C535689
xref: SNOMEDCT_US:715440003
xref: UMLS:C1851100
is_a: HP:0010442 ! Polydactyly
created_by: doelkens
creation_date: 2010-03-05T05:03:16Z

[Term]
id: HP:0010690
name: Mirror image hand polydactyly
def: "Mirror image duplication of digits affecting the hands only." [HPO:sdoelken]
subset: hposlim_core
synonym: "Mirror image dupliction of fingers" EXACT layperson []
xref: UMLS:C4021239
is_a: HP:0001161 ! Hand polydactyly
is_a: HP:0010689 ! Mirror image polydactyly
created_by: doelkens
creation_date: 2010-03-05T05:05:05Z

[Term]
id: HP:0010691
name: Mirror image foot polydactyly
def: "Mirror image duplication of digits affecting the feet." [HPO:sdoelken]
synonym: "Mirror image dupliction of toes" EXACT layperson []
xref: UMLS:C4021238
is_a: HP:0001829 ! Foot polydactyly
is_a: HP:0010689 ! Mirror image polydactyly
created_by: doelkens
creation_date: 2010-03-05T05:05:05Z

[Term]
id: HP:0010692
name: 2-5 finger syndactyly
def: "Syndactyly with fusion of fingers two to five." [HPO:sdoelken]
synonym: "Webbed 2nd-5th fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Webbed index, middle and little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Webbed index, middle and pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Webbed index, middle and pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023736
is_a: HP:0006101 ! Finger syndactyly
created_by: doelkens
creation_date: 2010-03-05T06:41:50Z

[Term]
id: HP:0010693
name: Pulverulent cataract
def: "A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally." [HPO:probinson, HPO:vkumar]
comment: The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color.
synonym: "Pulverulent cataract" EXACT layperson []
xref: MSH:C563426
xref: UMLS:C1833118
is_a: HP:0007648 ! Punctate cataract
created_by: peter
creation_date: 2010-03-11T02:49:53Z

[Term]
id: HP:0010694
name: Lamellar pulverulent cataract
def: "A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance." [HPO:probinson]
comment: Opacities located in the perinuclear (lamellar) zones of the lens.
xref: UMLS:C4023735
is_a: HP:0007971 ! Lamellar cataract
created_by: peter
creation_date: 2010-03-20T11:43:14Z

[Term]
id: HP:0010695
name: Sutural cataract
def: "A type of congenital cataract in which the opacity follows the anterior or posterior Y suture." [HPO:probinson]
comment: During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted.
xref: UMLS:C4023734
is_a: HP:0010920 ! Zonular cataract
created_by: peter
creation_date: 2010-03-20T12:07:04Z

[Term]
id: HP:0010696
name: Polar cataract
def: "A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens." [HPO:probinson]
xref: UMLS:C2025392
is_a: HP:0000518 ! Cataract
created_by: peter
creation_date: 2010-03-20T02:36:22Z

[Term]
id: HP:0010697
name: Anterior pyramidal cataract
def: "A type of anterior polar cataract which projects as a conical opacity into the anterior chamber." [HPO:probinson]
synonym: "Pyramidal cataract" RELATED []
xref: UMLS:C1392099
is_a: HP:0001134 ! Anterior polar cataract
created_by: peter
creation_date: 2010-03-20T02:38:57Z

[Term]
id: HP:0010698
name: Nuclear pulverulent cataract
def: "A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus." [HPO:probinson, pmid:10634616, PMID:14059288]
synonym: "cataracta pulverulenta centralis" EXACT []
synonym: "Central pulverulent cataract" EXACT []
synonym: "Coppock-like cataract" EXACT []
synonym: "Pulverulent nuclear cataract" EXACT []
xref: UMLS:C4021237
is_a: HP:0010693 ! Pulverulent cataract
is_a: HP:0010925 ! Nuclear punctate cataract
created_by: peter
creation_date: 2010-03-20T02:53:02Z

[Term]
id: HP:0010699
name: Triangular nuclear cataract
def: "A nuclear cataract with a triangular form." [HPO:probinson, pmid:18483562]
xref: UMLS:C4023733
is_a: HP:0100018 ! Nuclear cataract
created_by: peter
creation_date: 2010-03-20T02:58:26Z

[Term]
id: HP:0010700
name: obsolete Total cataract
is_obsolete: true
replaced_by: HP:0000518

[Term]
id: HP:0010701
name: Abnormal immunoglobulin level
alt_id: HP:0100032
def: "An abnormal deviation from normal levels of immunoglobulins in blood." [HPO:probinson]
comment: 'has part' some \n(amount and ('inheres in' some \n(IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal))
synonym: "Abnormal immunoglobulin concentration" EXACT []
synonym: "Abnormal serum immunoglobulin concentration" EXACT []
synonym: "Abnormal serum immunoglobulin levels" EXACT [HPO:skoehler]
synonym: "Abnormal serum level of immunoglobulin" EXACT []
synonym: "Immunoglobulin abnormality" EXACT []
xref: UMLS:C1855755
is_a: HP:0005368 ! Abnormality of humoral immunity
is_a: HP:0005372 ! Abnormality of B cell physiology
created_by: peter
creation_date: 2010-03-22T08:17:49Z

[Term]
id: HP:0010702
name: Increased antibody level in blood
alt_id: HP:0002852
alt_id: HP:0004314
alt_id: HP:0004435
def: "An increased level of gamma globulin (immunoglobulin) in the blood." [HPO:probinson]
comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM.
synonym: "Elevated immunoglobulin levels" EXACT []
synonym: "Hypergammaglobulinaemia" EXACT []
synonym: "Hypergammaglobulinemia" EXACT []
synonym: "Hyperglobulinemia" EXACT []
synonym: "Increased gamma globulin" EXACT []
synonym: "Increased immunoglobulin level" EXACT []
synonym: "Increased serum gamma globulin" EXACT []
synonym: "Raised immunoglobulin levels" EXACT []
xref: MSH:D006942
xref: SNOMEDCT_US:127388009
xref: SNOMEDCT_US:129646001
xref: UMLS:C0020455
xref: UMLS:C0151669
xref: UMLS:C0541985
xref: UMLS:C1306857
xref: UMLS:C2048011
is_a: HP:0010701 ! Abnormal immunoglobulin level
created_by: peter
creation_date: 2010-03-22T08:20:07Z

[Term]
id: HP:0010704
name: 1-2 finger syndactyly
def: "Syndactyly with fusion of fingers one and two." [HPO:sdoelken]
synonym: "Webbed 1st-2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Webbed thumb and index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023732
is_a: HP:0006101 ! Finger syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:07:14Z

[Term]
id: HP:0010705
name: 4-5 finger syndactyly
def: "Syndactyly with fusion of fingers four and five." [HPO:sdoelken]
synonym: "Webbed 4th-5th finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023731
is_a: HP:0006101 ! Finger syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010706
name: 1-3 finger syndactyly
def: "Syndactyly with fusion of fingers one to three." [HPO:sdoelken]
synonym: "Webbed 1st-3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023730
is_a: HP:0006101 ! Finger syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010707
name: 1-4 finger syndactyly
def: "Syndactyly with fusion of fingers one to four." [HPO:sdoelken]
synonym: "Webbed 1st-4th finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023729
is_a: HP:0006101 ! Finger syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010708
name: 1-5 finger syndactyly
def: "Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand)." [HPO:sdoelken]
synonym: "Webbed 1st-5th fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023728
is_a: HP:0006101 ! Finger syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010709
name: 2-4 finger syndactyly
alt_id: HP:0005797
alt_id: HP:0006018
def: "Syndactyly with fusion of the fingers two to four." [HPO:sdoelken]
synonym: "Syndactyly of second to fourth fingers" EXACT []
synonym: "Webbed index through ring fingers" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021236
is_a: HP:0006101 ! Finger syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010710
name: 3-5 finger syndactyly
def: "Syndactyly with fusion of fingers three to five." [HPO:sdoelken]
synonym: "Webbed third, fourth and fifth toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023727
is_a: HP:0006101 ! Finger syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:12:44Z

[Term]
id: HP:0010711
name: 1-2 toe syndactyly
def: "Syndactyly with fusion of toes one and two." [HPO:sdoelken]
synonym: "Webbed first and second toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023726
is_a: HP:0001770 ! Toe syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010712
name: 1-4 toe syndactyly
def: "Syndactyly with fusion of toes one to four." [HPO:sdoelken]
synonym: "Webbed first through fourth toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023725
is_a: HP:0001770 ! Toe syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010713
name: 1-5 toe syndactyly
alt_id: HP:0005812
def: "Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot)." [HPO:sdoelken]
synonym: "Syndactyly of all toes" EXACT []
synonym: "Webbed 1st-5th toes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021235
is_a: HP:0001770 ! Toe syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010714
name: 2-4 toe syndactyly
alt_id: HP:0005642
alt_id: HP:0005708
def: "Syndactyly with fusion of toes two to four." [HPO:sdoelken]
synonym: "Syndactyly of toes 2, 3 and 4" EXACT []
synonym: "Syndactyly toes 2-4" EXACT []
synonym: "Webbed 2nd-4th toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021234
is_a: HP:0001770 ! Toe syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010715
name: 2-5 toe syndactyly
def: "Syndactyly with fusion of toes two to five." [HPO:sdoelken]
synonym: "Webbed 2nd-5th toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023724
is_a: HP:0001770 ! Toe syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010716
name: 3-5 toe syndactyly
def: "Syndactyly with fusion of toes three to five." [HPO:sdoelken]
synonym: "Webbed 3rd-5th toes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023723
is_a: HP:0001770 ! Toe syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:22:26Z

[Term]
id: HP:0010717
name: Osseous syndactyly of toes
def: "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:sdoelken]
subset: hposlim_core
synonym: "Osseous syndactyly of the toes" EXACT []
xref: SNOMEDCT_US:32113001
xref: SNOMEDCT_US:38859008
xref: UMLS:C0158738
is_a: HP:0001770 ! Toe syndactyly
created_by: sdoelken
creation_date: 2010-03-26T05:31:50Z

[Term]
id: HP:0010719
name: Abnormality of hair texture
alt_id: HP:0002295
alt_id: HP:0003776
def: "An abnormality of the texture of the hair." [HPO:probinson]
synonym: "Abnormality of hair consistency" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of hair curl pattern" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of hair texture" EXACT layperson []
synonym: "Abnormality of hair volume" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023722
xref: UMLS:C4072880
xref: UMLS:C4072881
xref: UMLS:C4073290
is_a: HP:0001595 ! Abnormal hair morphology
created_by: sdoelken
creation_date: 2010-04-20T09:41:53Z

[Term]
id: HP:0010720
name: Abnormal hair pattern
def: "An abnormality of the distribution of hair growth." [HPO:probinson]
synonym: "Abnormal distribution of hair" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal hair pattern" EXACT layperson []
xref: UMLS:C4023721
is_a: HP:0001595 ! Abnormal hair morphology
created_by: sdoelken
creation_date: 2010-04-20T09:53:15Z

[Term]
id: HP:0010721
name: Abnormal hair whorl
def: "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [HPO:probinson]
synonym: "Abnormal hair whorl" EXACT layperson []
synonym: "Abnormal hair whorls" EXACT layperson [HPO:skoehler]
synonym: "Abnormal whorl of hair" EXACT layperson []
xref: UMLS:C3280303
is_a: HP:0011361 ! Congenital abnormal hair pattern
created_by: sdoelken
creation_date: 2010-04-20T10:05:04Z

[Term]
id: HP:0010722
name: Asymmetry of the ears
def: "An asymmetriy, i.e., difference in size, shape or position between the left and right ear." [HPO:probinson]
subset: hposlim_core
synonym: "Asymmetric ears" EXACT layperson []
xref: UMLS:C1168239
is_a: HP:0000357 ! Abnormal location of ears
is_a: HP:0000377 ! Abnormality of the pinna
created_by: sdoelken
creation_date: 2010-04-20T10:11:45Z

[Term]
id: HP:0010723
name: Cystic lesions of the pinnae
alt_id: HP:0008557
xref: UMLS:C4023720
is_a: HP:0000377 ! Abnormality of the pinna
created_by: sdoelken
creation_date: 2010-04-20T10:17:01Z

[Term]
id: HP:0010724
name: Advanced pneumatization of the mastoid process
def: "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4021828
is_a: HP:0000264 ! Abnormality of the mastoid
created_by: sdoelken
creation_date: 2010-04-20T10:38:57Z

[Term]
id: HP:0010726
name: Prominent corneal nerve fibers
def: "Abnormal prominence of the corneal nerve fibers." [DDD:ncarter, HPO:probinson]
synonym: "Visible corneal nerve fibers" EXACT []
xref: UMLS:C4021233
is_a: HP:0011492 ! Abnormality of corneal stroma
created_by: sdoelken
creation_date: 2010-04-20T10:52:24Z

[Term]
id: HP:0010727
name: Spontaneous rupture of the globe
def: "Rupture of the eyeball not due to trauma." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4023719
is_a: HP:0012372 ! Abnormal eye morphology
created_by: sdoelken
creation_date: 2010-04-20T11:05:28Z

[Term]
id: HP:0010728
name: Aplasia of the retina
def: "A developmental defect characterized by absence of the retina." [HPO:probinson]
synonym: "Absent retina" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023718
is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina
created_by: sdoelken
creation_date: 2010-04-20T11:09:59Z

[Term]
id: HP:0010729
name: Cherry red spot of the macula
def: "Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula." [HPO:probinson]
synonym: "Macular cherry red spot" EXACT []
xref: UMLS:C2216370
is_a: HP:0000630 ! Abnormal retinal artery morphology
created_by: sdoelken
creation_date: 2010-04-20T11:14:11Z

[Term]
id: HP:0010730
name: Double eyebrow
def: "This may present as a partial or complete duplication of the eyebrows." [HPO:sdoelken]
comment: Double eyebrow is commonly a feature of Mowat Wilson syndrome.
subset: hposlim_core
synonym: "Double eyebrow" EXACT layperson []
synonym: "Duplication of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:253209004
xref: UMLS:C0431449
is_a: HP:0000534 ! Abnormal eyebrow morphology
created_by: doelkens
creation_date: 2010-04-21T04:16:59Z

[Term]
id: HP:0010731
name: Extension of eyebrows towards upper eyelid
def: "The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid." [HPO:sdoelken]
comment: This is commonly a feature of Jacobson syndrome.
synonym: "Extension of eyebrows towards upper eyelid" EXACT layperson []
xref: UMLS:C4023717
is_a: HP:0011229 ! Broad eyebrow
created_by: doelkens
creation_date: 2010-04-21T04:46:32Z

[Term]
id: HP:0010732
name: Nodular changes affecting the eyelids
def: "Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more." [HPO:sdoelken]
synonym: "Eyelid nodules" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023716
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0200036 ! Skin nodule
created_by: doelkens
creation_date: 2010-04-21T05:11:04Z

[Term]
id: HP:0010733
name: Naevus flammeus of the eyelid
def: "Naevus flammeus localised in the skin of the eyelid." [HPO:sdoelken]
synonym: "Port-wine stain on eyelid" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1854409
is_a: HP:0001052 ! Nevus flammeus
created_by: doelkens
creation_date: 2010-04-21T05:18:41Z

[Term]
id: HP:0010734
name: Fibrous dysplasia of the bones
def: "Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia)." [HPO:sdoelken]
xref: MSH:D005357
xref: SNOMEDCT_US:10623005
xref: UMLS:C0016063
is_a: HP:0003330 ! Abnormal bone structure
created_by: doelkens
creation_date: 2010-04-21T06:27:42Z

[Term]
id: HP:0010735
name: Polyostotic fibrous dysplasia
def: "Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome." [HPO:sdoelken]
xref: MSH:D005359
xref: SNOMEDCT_US:36517007
xref: UMLS:C0016065
is_a: HP:0010734 ! Fibrous dysplasia of the bones
created_by: doelkens
creation_date: 2010-04-21T06:31:50Z

[Term]
id: HP:0010736
name: Monostotic fibrous dysplasia
def: "Fibrous dysplasia of the bones were lesions are localized in only one bone." [HPO:sdoelken]
xref: MSH:D005358
xref: SNOMEDCT_US:89859004
xref: UMLS:C0016064
is_a: HP:0010734 ! Fibrous dysplasia of the bones
created_by: doelkens
creation_date: 2010-04-21T06:31:50Z

[Term]
id: HP:0010739
name: Osteopoikilosis
def: "Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake." [HPO:sdoelken]
xref: MSH:D010023
xref: SNOMEDCT_US:9147009
xref: UMLS:C0029455
is_a: HP:0011001 ! Increased bone mineral density
created_by: doelkens
creation_date: 2010-04-21T07:19:11Z

[Term]
id: HP:0010740
name: Osteopathia striata
def: "A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance." [HPO:sdoelken]
xref: SNOMEDCT_US:82663009
xref: UMLS:C0265513
is_a: HP:0031367 ! Metaphyseal striations
created_by: doelkens
creation_date: 2010-04-21T07:30:24Z

[Term]
id: HP:0010741
name: Pedal edema
def: "An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg." [HPO:probinson]
synonym: "Bipedal edema" EXACT HP:0045078 []
synonym: "Edema of the lower limbs" EXACT []
synonym: "Fluid accumulation in lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Leg edema" EXACT []
synonym: "Lower leg swelling" EXACT layperson []
synonym: "Peripheral edema of lower extremity" EXACT []
xref: SNOMEDCT_US:102572006
xref: UMLS:C0235886
xref: UMLS:C0239340
is_a: HP:0000969 ! Edema
is_a: HP:0002814 ! Abnormality of the lower limb
created_by: doelkens
creation_date: 2010-04-22T02:16:54Z

[Term]
id: HP:0010742
name: Edema of the upper limbs
def: "An abnormal accumulation of fluid beneath the skin of the arms." [HPO:probinson]
synonym: "Fluid accumulation in upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:102558002
xref: UMLS:C0522035
is_a: HP:0000969 ! Edema
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: doelkens
creation_date: 2010-04-22T02:17:15Z

[Term]
id: HP:0010743
name: Short metatarsal
alt_id: HP:0001779
alt_id: HP:0001865
alt_id: HP:0003092
alt_id: HP:0004706
alt_id: HP:0005754
def: "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe." [HPO:probinson, pmid:19125433]
comment: This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified.
subset: hposlim_core
synonym: "Hypoplasia of the metatarsal bones" EXACT []
synonym: "Hypoplastic metatarsals" EXACT []
synonym: "Short long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short metatarsal bone" EXACT []
synonym: "Short metatarsal bones" RELATED [HPO:skoehler]
synonym: "Short metatarsals" EXACT []
synonym: "Shortened metatarsals" EXACT []
xref: UMLS:C1849020
is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones
is_a: HP:0003026 ! Short long bone
is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs
created_by: doelkens
creation_date: 2010-04-22T04:30:18Z

[Term]
id: HP:0010744
name: Absent metatarsal bone
def: "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone." [HPO:probinson]
synonym: "Absent long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the metatarsal bones" EXACT []
xref: UMLS:C4021232
is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones
created_by: doelkens
creation_date: 2010-04-22T04:30:18Z

[Term]
id: HP:0010745
name: Aplasia of the phalanges of the toes
def: "Absence of a digit or of one or more phalanges of a toe." [HPO:probinson]
synonym: "Absent bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aphalangia of the toes" EXACT []
xref: UMLS:C4021231
is_a: HP:0009817 ! Aplasia involving bones of the lower limbs
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2010-04-22T04:33:06Z

[Term]
id: HP:0010746
name: Hypoplasia of the phalanges of the toes
synonym: "Small toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023715
is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2010-04-22T04:33:06Z

[Term]
id: HP:0010747
name: Medial flaring of the eyebrow
def: "An abnormal distribution of eyebrow hair growth in the medial direction." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C1844562
is_a: HP:0000534 ! Abnormal eyebrow morphology
created_by: sdoelken
creation_date: 2010-04-23T09:29:58Z

[Term]
id: HP:0010748
name: Ectopic lacrimal punctum
def: "Positioning of a lacrimal punctum other than at the medial margins of the eyelid." [pmid:19125427]
comment: The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid.
subset: hposlim_core
synonym: "Abnormal position of the lacrimal punctum" EXACT []
xref: UMLS:C4021230
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology
created_by: sdoelken
creation_date: 2010-04-23T09:35:56Z

[Term]
id: HP:0010749
name: Blepharochalasis
def: "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads." [PMID:3207663]
comment: Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis.
subset: hposlim_core
synonym: "Saggy upper eyelid skin" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:47704002
xref: UMLS:C0005742
is_a: HP:0100540 ! Palpebral edema
created_by: sdoelken
creation_date: 2010-04-23T09:53:13Z

[Term]
id: HP:0010750
name: Dermatochalasis
def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." [HPO:probinson]
synonym: "Baggy eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Droopy eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Extra eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Eyelid dermatochalasia" EXACT []
synonym: "Hooding of eyelids" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Redundant eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:246815009
xref: UMLS:C0423124
xref: UMLS:C2674149
is_a: HP:0000492 ! Abnormal eyelid morphology
created_by: sdoelken
creation_date: 2010-04-23T10:07:56Z

[Term]
id: HP:0010751
name: Dimple chin
def: "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436]
subset: hposlim_core
synonym: "Chin butt" EXACT layperson []
synonym: "Chin dent" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Chin dimple" EXACT layperson []
synonym: "Chin dimples" RELATED layperson [HPO:skoehler]
synonym: "Chin skin dimple" EXACT layperson []
synonym: "Dimple chin" EXACT layperson []
synonym: "Gelasin of chin" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Indentation of chin" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1849227
is_a: HP:0000306 ! Abnormality of the chin
created_by: sdoelken
creation_date: 2010-04-23T10:29:03Z

[Term]
id: HP:0010752
name: Cleft mandible
def: "Midline deficiency of the mandible and some or all overlying tissues." [pmid:19125436]
subset: hposlim_core
synonym: "Cleft lower jaw" EXACT layperson []
synonym: "Mandibular cleft" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:92822004
xref: UMLS:C0685786
is_a: HP:0010753 ! Midline defect of mandible
created_by: sdoelken
creation_date: 2010-04-23T10:32:09Z

[Term]
id: HP:0010753
name: Midline defect of mandible
synonym: "Midline cleft of mandible" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023714
is_a: HP:0000277 ! Abnormality of the mandible
created_by: sdoelken
creation_date: 2010-04-23T10:32:46Z

[Term]
id: HP:0010754
name: Abnormality of the temporomandibular joint
def: "An anomaly of the temporomandibular joint." [HPO:probinson]
synonym: "Abnormality of the jaw joint" EXACT layperson []
synonym: "Anomaly of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the jaw joint" EXACT layperson []
synonym: "Deformity of the temporomandibular joint" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Derangement of the temporomandibular joint" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of jaw joint" EXACT layperson []
synonym: "Malformation of the temporomandibular joint" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:248401009
xref: SNOMEDCT_US:75630004
xref: UMLS:C0266941
xref: UMLS:C0424721
xref: UMLS:C1865318
xref: UMLS:C4280366
is_a: HP:0000277 ! Abnormality of the mandible
created_by: sdoelken
creation_date: 2010-04-23T10:36:28Z

[Term]
id: HP:0010755
name: Asymmetry of the maxilla
def: "Asymmetry between the left and right sides of the maxilla." [ORCID:0000-0001-5889-4463]
subset: hposlim_core
synonym: "Asymmetry of right and left side of the maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of the upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Canted maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Canted upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Crooked upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Deviation of the maxilla" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Deviation of the upper jaw" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Tilted maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tilted upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unequal sides of maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Uneven maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Uneven upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:235083001
xref: UMLS:C0399519
is_a: HP:0000326 ! Abnormality of the maxilla
created_by: sdoelken
creation_date: 2010-04-23T10:38:44Z

[Term]
id: HP:0010756
name: Aplasia/Hypoplasia of the premaxilla
def: "Absence or underdevelopment of the premaxilla." [HPO:probinson]
synonym: "Aplasia/hypoplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Aplasia/hypoplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023713
is_a: HP:0010758 ! Abnormality of the premaxilla
created_by: sdoelken
creation_date: 2010-04-23T10:40:40Z

[Term]
id: HP:0010757
name: Aplasia of the premaxilla
def: "Absence of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla." [HPO:probinson]
synonym: "Absence of the intermaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of premaxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023712
is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla
is_a: HP:0040008 ! Aplasia of facial bones
created_by: sdoelken
creation_date: 2010-04-23T10:42:17Z

[Term]
id: HP:0010758
name: Abnormality of the premaxilla
def: "An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate." [HPO:sdoelken, ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the intermaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the intermaxillary segment of the maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the premaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023711
is_a: HP:0000326 ! Abnormality of the maxilla
created_by: sdoelken
creation_date: 2010-04-23T10:59:07Z

[Term]
id: HP:0010759
name: Prominence of the premaxilla
def: "Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla." [HPO:sdoelken, ORCID:0000-0001-5889-4463, pmid:19125436]
comment: As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated.
subset: hposlim_core
synonym: "Anterior position of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anterior position of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Premaxillary bone excess" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominence of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominence of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C2749369
is_a: HP:0010758 ! Abnormality of the premaxilla
created_by: sdoelken
creation_date: 2010-04-23T11:01:23Z

[Term]
id: HP:0010760
name: Absent toe
alt_id: HP:0008084
alt_id: HP:0010108
alt_id: HP:0011306
def: "Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues." [HPO:probinson]
comment: This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux.
subset: hposlim_core
synonym: "Absent toe" EXACT layperson []
synonym: "Absent toes" RELATED layperson [HPO:skoehler]
synonym: "Aplasia of the toes" RELATED []
synonym: "Aplasia of toe" EXACT []
xref: UMLS:C3553754
is_a: HP:0001991 ! Aplasia/Hypoplasia of toe
created_by: doelkens
creation_date: 2010-04-23T03:58:25Z

[Term]
id: HP:0010761
name: Broad columella
def: "Increased width of the columella." [pmid:19152422]
subset: hposlim_core
synonym: "Columella, broad" EXACT []
synonym: "Columella, wide" EXACT []
synonym: "Fullness of columella" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of columella" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased width of columella" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1851059
xref: UMLS:C4280365
is_a: HP:0009929 ! Abnormality of the columella
created_by: peter
creation_date: 2010-04-24T11:52:54Z

[Term]
id: HP:0010762
name: Chordoma
def: "A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis." [HPO:probinson]
comment: The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks.
xref: MSH:D002817
xref: NCIT:C2947
xref: SNOMEDCT_US:50007008
xref: UMLS:C0008487
is_a: HP:0010622 ! Neoplasm of the skeletal system
created_by: peter
creation_date: 2010-06-25T09:00:39Z

[Term]
id: HP:0010763
name: Low insertion of columella
def: "Insertion of the posterior columella below the nasal base." [pmid:19152422]
comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side.
subset: hposlim_core
synonym: "Ala higher than columella" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Columella, low insertion" EXACT []
xref: UMLS:C4021229
xref: UMLS:C4280364
is_a: HP:0009929 ! Abnormality of the columella
created_by: peter
creation_date: 2010-04-24T12:12:25Z

[Term]
id: HP:0010764
name: Short eyelashes
def: "Decreased length of the eyelashes (subjective)." [HPO:probinson]
comment: Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls.
synonym: "Decreased length of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short eyelashes" EXACT layperson []
xref: UMLS:C2748682
is_a: HP:0000499 ! Abnormal eyelash morphology
created_by: peter
creation_date: 2010-04-24T03:31:00Z

[Term]
id: HP:0010765
name: Palmar hyperkeratosis
def: "Hyperkeratosis affecting the palm of the hand." [HPO:probinson]
xref: UMLS:C4023710
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0040211 ! Abnormality of the skin of the palm
created_by: peter
creation_date: 2010-04-24T03:53:19Z

[Term]
id: HP:0010766
name: Ectopic calcification
def: "Deposition of calcium salts in a tissue or location in which calcification does not normally occur." [HPO:probinson]
xref: UMLS:C3806226
is_a: HP:0000924 ! Abnormality of the skeletal system
created_by: doelkens
creation_date: 2010-04-27T09:52:59Z

[Term]
id: HP:0010767
name: Sacrococcygeal pilonidal abnormality
def: "The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds." [HPO:probinson]
xref: UMLS:C4023709
is_a: HP:0005107 ! Abnormal sacrum morphology
created_by: sdoelken
creation_date: 2010-04-29T09:45:21Z

[Term]
id: HP:0010769
name: Pilonidal sinus
alt_id: HP:0010768
def: "A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris." [HPO:probinson]
subset: hposlim_core
synonym: "Pilonidal cyst" EXACT []
xref: MSH:D010864
xref: SNOMEDCT_US:47639008
xref: UMLS:C0031925
is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality
created_by: sdoelken
creation_date: 2010-04-29T09:55:15Z

[Term]
id: HP:0010770
name: Pilonidal fistula
xref: MSH:D010864
xref: SNOMEDCT_US:47639008
xref: UMLS:C0031925
is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality
created_by: sdoelken
creation_date: 2010-04-29T09:55:15Z

[Term]
id: HP:0010771
name: Pilonidal abscess
def: "A hair-containing cyst or sinus usually in the coccygeal region." [HPO:probinson]
synonym: "Sacrococcygeal fistula" EXACT []
xref: SNOMEDCT_US:85224001
xref: UMLS:C3537055
is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality
is_a: HP:0031292 ! Cutaneous abscess
created_by: sdoelken
creation_date: 2010-04-29T09:55:15Z

[Term]
id: HP:0010772
name: Anomalous pulmonary venous return
def: "A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood." [HPO:probinson]
xref: MSH:D012587
xref: SNOMEDCT_US:111323005
xref: SNOMEDCT_US:39905002
xref: UMLS:C0036400
is_a: HP:0030968 ! Abnormal pulmonary vein morphology
created_by: sdoelken
creation_date: 2010-04-29T10:02:26Z

[Term]
id: HP:0010773
name: Partial anomalous pulmonary venous return
def: "A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung." [HPO:probinson]
synonym: "Partial anomalous pulmonary venous connection" EXACT []
xref: Fyler:2030
xref: SNOMEDCT_US:68237008
xref: UMLS:C0158634
is_a: HP:0010772 ! Anomalous pulmonary venous return
created_by: sdoelken
creation_date: 2010-04-29T10:03:02Z

[Term]
id: HP:0010774
name: Cor triatriatum
def: "The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)." [DDD:dbrown, HPO:probinson]
synonym: "Triatrial heart" EXACT []
xref: Fyler:3031
xref: ICD-10:Q24.2
xref: UMLS:C4023708
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
created_by: sdoelken
creation_date: 2010-04-29T10:07:24Z

[Term]
id: HP:0010775
name: Vascular ring
def: "A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails." [HPO:probinson]
synonym: "Vascular ring of aorta" EXACT []
xref: Fyler:2760
xref: SNOMEDCT_US:110409004
xref: SNOMEDCT_US:66403007
xref: UMLS:C0221214
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
created_by: sdoelken
creation_date: 2010-04-29T10:18:47Z

[Term]
id: HP:0010776
name: Tracheobronchmegaly
def: "Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection." [HPO:probinson]
comment: Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi.
xref: UMLS:C4023707
is_a: HP:0010777 ! Bronchomegaly
is_a: HP:0010778 ! Tracheomegaly
created_by: sdoelken
creation_date: 2010-04-29T10:22:55Z

[Term]
id: HP:0010777
name: Bronchomegaly
def: "Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection." [HPO:probinson]
xref: UMLS:C4023706
is_a: HP:0025426 ! Abnormal bronchus morphology
created_by: sdoelken
creation_date: 2010-04-29T10:25:22Z

[Term]
id: HP:0010778
name: Tracheomegaly
def: "Marked widening of the trachea." [HPO:probinson]
xref: UMLS:C4023705
is_a: HP:0002778 ! Abnormal trachea morphology
created_by: sdoelken
creation_date: 2010-04-29T10:28:51Z

[Term]
id: HP:0010779
name: Large pelvis bone
def: "The presence of an abnormally large pelvis." [HPO:probinson]
subset: hposlim_core
synonym: "Large pelvis" BROAD layperson [HPO:skoehler]
synonym: "Large pelvis bone" EXACT layperson []
xref: UMLS:C4019074
xref: UMLS:C4072882
is_a: HP:0040163 ! Abnormal pelvis bone morphology
created_by: sdoelken
creation_date: 2010-04-29T11:03:39Z

[Term]
id: HP:0010780
name: Hyperacusis
def: "Over-sensitivity to certain frequency ranges of sound." [HPO:probinson, PMID:14647932]
comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions.
subset: hposlim_core
xref: MSH:D012001
xref: SNOMEDCT_US:194399009
xref: SNOMEDCT_US:25289003
xref: UMLS:C0034880
is_a: HP:0025112 ! Sound sensitivity
created_by: doelkens
creation_date: 2010-04-29T04:42:44Z

[Term]
id: HP:0010781
name: Skin dimples
def: "Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation." [HPO:probinson]
synonym: "Skin dimples" EXACT layperson []
xref: SNOMEDCT_US:301854006
xref: UMLS:C0578531
is_a: HP:0011355 ! Localized skin lesion
created_by: peter
creation_date: 2010-04-30T11:34:41Z

[Term]
id: HP:0010782
name: Shoulder dimples
def: "A subtype of skin dimples occurring in the shoulder region." [HPO:probinson]
synonym: "Shoulder dimples" EXACT layperson []
xref: UMLS:C4023704
is_a: HP:0010781 ! Skin dimples
created_by: peter
creation_date: 2010-04-30T11:36:51Z

[Term]
id: HP:0010783
name: Erythema
def: "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson]
subset: hposlim_core
synonym: "Redness of skin or mucous membrane" EXACT []
xref: MSH:D004890
xref: MSH:D005483
xref: SNOMEDCT_US:20255002
xref: SNOMEDCT_US:238810007
xref: SNOMEDCT_US:247441003
xref: SNOMEDCT_US:271811009
xref: SNOMEDCT_US:444827008
xref: SNOMEDCT_US:70819003
xref: SNOMEDCT_US:86735004
xref: UMLS:C0016382
xref: UMLS:C0041834
is_a: HP:0011276 ! Vascular skin abnormality
created_by: peter
creation_date: 2010-04-30T11:40:43Z

[Term]
id: HP:0010784
name: Uterine neoplasm
def: "A tumor (abnormal growth of tissue) of the uterus." [HPO:probinson]
synonym: "Uterine cancer" BROAD layperson []
synonym: "Uterine neoplasia" RELATED []
synonym: "Uterine tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D014594
xref: NCIT:C3262
xref: SNOMEDCT_US:126908007
xref: UMLS:C0042138
is_a: HP:0010787 ! Genital neoplasm
is_a: HP:0031105 ! Abnormal uterus morphology
created_by: sdoelken
creation_date: 2010-05-04T09:35:15Z

[Term]
id: HP:0010785
name: Gonadal neoplasm
def: "A tumor (abnormal growth of tissue) of a gonad." [HPO:probinson]
synonym: "Gonadal neoplasia" EXACT []
xref: NCIT:C3262
xref: UMLS:C4021228
is_a: HP:0010787 ! Genital neoplasm
created_by: sdoelken
creation_date: 2010-05-04T09:44:41Z

[Term]
id: HP:0010786
name: Urinary tract neoplasm
def: "The presence of a neoplasm of the urinary system." [HPO:probinson]
synonym: "Urinary tract neoplasia" RELATED []
xref: MSH:D014571
xref: NCIT:C3262
xref: SNOMEDCT_US:126879004
xref: SNOMEDCT_US:254913005
xref: UMLS:C0042076
is_a: HP:0007379 ! Neoplasm of the genitourinary tract
created_by: sdoelken
creation_date: 2010-05-04T09:45:25Z

[Term]
id: HP:0010787
name: Genital neoplasm
def: "A tumor (abnormal growth of tissue) of the genital system." [HPO:probinson]
synonym: "Genital neoplasia" RELATED []
synonym: "Genital tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: NCIT:C3262
xref: UMLS:C0679347
xref: UMLS:C4020767
is_a: HP:0000078 ! Abnormality of the genital system
is_a: HP:0007379 ! Neoplasm of the genitourinary tract
created_by: sdoelken
creation_date: 2010-05-04T09:47:50Z

[Term]
id: HP:0010788
name: Testicular neoplasm
def: "The presence of a neoplasm of the testis." [HPO:probinson]
synonym: "Testicular cancer" BROAD layperson []
synonym: "Testicular neoplasia" RELATED []
synonym: "Testicular tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D013736
xref: NCIT:C3262
xref: SNOMEDCT_US:126900000
xref: UMLS:C0039590
is_a: HP:0000035 ! Abnormal testis morphology
is_a: HP:0010785 ! Gonadal neoplasm
is_a: HP:0100848 ! Neoplasm of the male external genitalia
created_by: sdoelken
creation_date: 2010-05-04T09:48:35Z

[Term]
id: HP:0010789
name: Abnormality of the Leydig cells
xref: UMLS:C4023703
is_a: HP:0000035 ! Abnormal testis morphology
created_by: sdoelken
creation_date: 2010-05-04T09:50:45Z

[Term]
id: HP:0010790
name: Hyoplasia of the Leydig cells
def: "Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson]
xref: UMLS:C4023702
is_a: HP:0010789 ! Abnormality of the Leydig cells
created_by: sdoelken
creation_date: 2010-05-04T09:51:03Z

[Term]
id: HP:0010791
name: Hyperplasia of the Leydig cells
def: "Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson]
xref: SNOMEDCT_US:76085008
xref: UMLS:C0023600
is_a: HP:0010789 ! Abnormality of the Leydig cells
created_by: sdoelken
creation_date: 2010-05-04T09:51:26Z

[Term]
id: HP:0010793
name: Bifid nail
def: "A digit with two nails, with at least some soft tissue between them." [pmid:19125433]
subset: hposlim_core
synonym: "duplicated nail" EXACT []
synonym: "Notched nail" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:110992006
xref: UMLS:C0544857
is_a: HP:0002164 ! Nail dysplasia
created_by: sdoelken
creation_date: 2010-05-04T10:34:02Z

[Term]
id: HP:0010794
name: Impaired visuospatial constructive cognition
def: "Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities)." [HPO:sdoelken, pmid:10521286]
comment: The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome.
xref: UMLS:C4023701
is_a: HP:0001328 ! Specific learning disability
created_by: sandra1
creation_date: 2010-05-10T01:43:01Z

[Term]
id: HP:0010795
name: Cerebellar glioma
def: "A glioma affecting the cerebellum." [HPO:probinson]
xref: UMLS:C4023700
is_a: HP:0009733 ! Glioma
created_by: peter
creation_date: 2010-06-25T09:08:32Z

[Term]
id: HP:0010796
name: Brainstem glioma
def: "A glioma affecting the brainstem." [HPO:probinson]
xref: SNOMEDCT_US:444545003
xref: UMLS:C0677865
is_a: HP:0009733 ! Glioma
created_by: peter
creation_date: 2010-06-25T09:10:45Z

[Term]
id: HP:0010797
name: Hemangioblastoma
def: "A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter." [HPO:probinson]
synonym: "Haemangioblastoma" EXACT []
xref: MSH:D018325
xref: NCIT:C3801
xref: SNOMEDCT_US:81201000
xref: UMLS:C0206734
is_a: HP:0100835 ! Benign neoplasm of the central nervous system
created_by: peter
creation_date: 2010-06-25T09:18:32Z

[Term]
id: HP:0010798
name: Lip freckle
def: "Increased focal pigmentation of the vermilion of the lips." [pmid:19125428]
comment: Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin.
subset: hposlim_core
synonym: "Ephelis of lip" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Labial lentigo" EXACT []
synonym: "Lip freckle" EXACT layperson []
synonym: "Lip lentigo" EXACT []
xref: SNOMEDCT_US:239136007
xref: UMLS:C0406814
is_a: HP:0000159 ! Abnormal lip morphology
created_by: peter
creation_date: 2010-06-26T01:59:19Z

[Term]
id: HP:0010799
name: Pinealoma
def: "A neoplasm of the pineal gland." [HPO:probinson]
xref: MSH:D010871
xref: NCIT:C3328
xref: SNOMEDCT_US:127026004
xref: SNOMEDCT_US:359619007
xref: SNOMEDCT_US:47598005
xref: UMLS:C0031941
is_a: HP:0030063 ! Neuroepithelial neoplasm
is_a: HP:0030693 ! Supratentorial neoplasm
created_by: peter
creation_date: 2010-06-25T09:27:58Z

[Term]
id: HP:0010800
name: Absent cupid's bow
def: "Lack of paramedian peaks and median notch of the upper lip vermilion." [pmid:19125428]
comment: This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately.
subset: hposlim_core
synonym: "Absent cupid's bow" EXACT layperson []
synonym: "Agenesis of cupid's bow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of cupid's bow" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of cupid's bow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lack of cupid's bow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing cupid's bow" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C2053435
is_a: HP:0011339 ! Abnormality of upper lip vermillion
created_by: peter
creation_date: 2010-06-26T02:01:31Z

[Term]
id: HP:0010801
name: Underdeveloped nasolabial fold
def: "Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)." [pmid:19125428]
subset: hposlim_core
synonym: "Flat nasolabial fold" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Nasolabial crease, hypoplastic" EXACT []
synonym: "Nasolabial crease, underdeveloped" EXACT []
synonym: "Nasolabial fold, hypoplastic" EXACT []
synonym: "Shallow nasolabial fold" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021227
is_a: HP:0005289 ! Abnormality of the nasolabial region
created_by: peter
creation_date: 2010-06-26T02:10:51Z

[Term]
id: HP:0010802
name: Perioral hyperpigmentation
def: "Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips." [pmid:19125428]
comment: Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately.
synonym: "Darkening of skin around the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased pigmentation around the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023699
is_a: HP:0001000 ! Abnormality of skin pigmentation
created_by: peter
creation_date: 2010-06-26T02:22:18Z

[Term]
id: HP:0010803
name: Everted upper lip vermilion
def: "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip." [HPO:probinson, pmid:19125428]
comment: In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately.
subset: hposlim_core
synonym: "Drooping upper lip" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Eclabium of upper lip" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Everted prominent upper lip" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Everted upper lip" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Outward turned upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Protruding upper lip" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C3275452
xref: UMLS:C4023698
xref: UMLS:C4280363
is_a: HP:0011339 ! Abnormality of upper lip vermillion
is_a: HP:0012472 ! Eclabion
created_by: peter
creation_date: 2010-06-26T02:30:13Z

[Term]
id: HP:0010804
name: Tented upper lip vermilion
alt_id: HP:0100895
def: "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [pmid:19125428]
comment: This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture.
subset: hposlim_core
synonym: "Inverted V-shaped upper lip" EXACT []
synonym: "Tented mouth" RELATED layperson []
synonym: "Tented upper lip" RELATED layperson [HPO:skoehler]
xref: UMLS:C1839767
xref: UMLS:C1850072
xref: UMLS:C1853383
is_a: HP:0011339 ! Abnormality of upper lip vermillion
created_by: peter
creation_date: 2010-06-26T02:32:35Z

[Term]
id: HP:0010805
name: Upturned corners of mouth
def: "Oral commissures positioned superior to the midline labial fissure." [pmid:19125428]
comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged.
subset: hposlim_core
synonym: "Upturned corners of mouth" EXACT layperson []
synonym: "Upturned mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Upturned oral commisures" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C3553471
is_a: HP:0011338 ! Abnormality of mouth shape
created_by: peter
creation_date: 2010-06-26T03:17:08Z

[Term]
id: HP:0010806
name: U-Shaped upper lip vermilion
alt_id: HP:0000186
def: "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [pmid:19125428]
comment: The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms).
synonym: "Carp-like mouth" EXACT layperson []
synonym: "Carp-shaped mouth" EXACT layperson []
synonym: "Fish mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large, carp-shaped mouth" EXACT layperson []
synonym: "Wide, carp-shaped mouth" EXACT layperson []
xref: UMLS:C1856202
is_a: HP:0011339 ! Abnormality of upper lip vermillion
created_by: peter
creation_date: 2010-06-26T03:25:01Z

[Term]
id: HP:0010807
name: Open bite
def: "Visible space between the dental arches in occlusion." [pmid:19125428]
comment: An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion.
subset: hposlim_core
synonym: "Absence of overlap of upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Open bite" EXACT layperson []
synonym: "Open bite between upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D024343
xref: SNOMEDCT_US:35580009
xref: UMLS:C0266061
is_a: HP:0000692 ! Misalignment of teeth
created_by: peter
creation_date: 2010-07-02T09:30:43Z

[Term]
id: HP:0010808
name: Protruding tongue
def: "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428]
comment: Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately.
subset: hposlim_core
synonym: "Lingual prolapse" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lingual prominence" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lingual protrusion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prolapse of tongue" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Protruding tongue" EXACT layperson []
synonym: "Tongue protrusion" EXACT []
synonym: "Tongue sticking out of mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249872000
xref: SNOMEDCT_US:285503005
xref: UMLS:C0241442
is_a: HP:0030809 ! Abnormal tongue morphology
created_by: peter
creation_date: 2010-07-02T09:38:37Z

[Term]
id: HP:0010809
name: Broad uvula
def: "Increased width of the uvula (subjective finding)." [pmid:19125428]
comment: This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula.
subset: hposlim_core
synonym: "Wide uvula" EXACT []
xref: UMLS:C3693299
is_a: HP:0000172 ! Abnormality of the uvula
created_by: peter
creation_date: 2010-07-05T10:22:01Z

[Term]
id: HP:0010810
name: Long uvula
def: "Increased length of the uvula." [pmid:19125428]
comment: In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer.
subset: hposlim_core
synonym: "Elongated uvula" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of uvula" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Long palatine uvula" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023697
xref: UMLS:C4280362
is_a: HP:0000172 ! Abnormality of the uvula
created_by: peter
creation_date: 2010-07-05T10:23:52Z

[Term]
id: HP:0010811
name: Narrow uvula
def: "Decreased width of the uvula." [pmid:19125428]
subset: hposlim_core
synonym: "Narrow palatine uvula" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thin uvula" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023696
is_a: HP:0000172 ! Abnormality of the uvula
created_by: peter
creation_date: 2010-07-05T10:25:14Z

[Term]
id: HP:0010812
name: Short uvula
def: "Decreased length of the uvula." [pmid:19125428]
comment: Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer.
synonym: "Blunt uvula" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypoplastic uvula" EXACT []
synonym: "Short palatine uvula" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1401781
is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula
created_by: peter
creation_date: 2010-07-05T10:26:47Z

[Term]
id: HP:0010813
name: Abnormal number of hair whorls
def: "More than two clockwise hair whorls." [pmid:19125436]
comment: Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise.
subset: hposlim_core
synonym: "Abnormal number of hair swirls" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal number of hair whorls" EXACT layperson []
synonym: "Double crown (hair whorls)" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Extra hair swirls" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Extra hair whorl" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Supernumary hair swirls" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Supernumary hair whorl" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023695
is_a: HP:0010721 ! Abnormal hair whorl
created_by: peter
creation_date: 2010-07-05T11:12:26Z

[Term]
id: HP:0010814
name: Abnormal position of hair whorl
def: "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull." [pmid:19125436]
comment: Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls.
subset: hposlim_core
synonym: "Abnormal location of hair swirl" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal position of hair whorl" EXACT layperson []
xref: UMLS:C4023694
is_a: HP:0010721 ! Abnormal hair whorl
created_by: peter
creation_date: 2010-07-05T11:13:42Z

[Term]
id: HP:0010815
name: Nevus sebaceous
def: "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly." [HPO:probinson]
synonym: "Naevus sebaceous" EXACT []
synonym: "Organoid nevus" EXACT []
synonym: "Sebaceous mole" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Sebaceous naevus" EXACT []
synonym: "Sebaceous nevus" EXACT []
xref: MSH:D054000
xref: SNOMEDCT_US:239112008
xref: SNOMEDCT_US:52298009
xref: SNOMEDCT_US:707136009
xref: UMLS:C3854181
is_a: HP:0010816 ! Epidermal nevus
created_by: peter
creation_date: 2010-07-10T12:07:03Z

[Term]
id: HP:0010816
name: Epidermal nevus
def: "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood." [HPO:probinson, PMID:20542174]
comment: Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematised epidermal naevus. Several other conditions are also characterised by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus.
synonym: "Epidermal nevi" RELATED []
xref: MSH:C580062
xref: SNOMEDCT_US:239107007
xref: SNOMEDCT_US:25201003
xref: UMLS:C0334082
is_a: HP:0003764 ! Nevus
created_by: peter
creation_date: 2010-07-10T12:12:32Z

[Term]
id: HP:0010817
name: Linear nevus sebaceous
def: "A type of nevus sebaceous with a linear form, raised borders and yellowish color." [HPO:probinson]
xref: MSH:D054000
xref: SNOMEDCT_US:239112008
xref: SNOMEDCT_US:52298009
xref: SNOMEDCT_US:707136009
xref: UMLS:C3854181
is_a: HP:0010815 ! Nevus sebaceous
created_by: peter
creation_date: 2010-07-10T12:17:17Z

[Term]
id: HP:0010818
name: Generalized tonic seizures
alt_id: HP:0002184
def: "Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes." [HPO:jalbers, HPO:probinson]
comment: Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started.
synonym: "Hypertonic seizures" RELATED []
xref: UMLS:C1836508
is_a: HP:0002197 ! Generalized-onset seizure
created_by: peter
creation_date: 2010-07-10T03:03:51Z

[Term]
id: HP:0010819
name: Atonic seizures
alt_id: HP:0002124
def: "Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground ." [HPO:jalbers, HPO:probinson]
synonym: "astatic seizures" EXACT []
synonym: "drop attacks" EXACT []
synonym: "drop seizures" EXACT []
synonym: "Hypotonic seizures" RELATED []
synonym: "Sudden loss of muscle tone" RELATED layperson []
xref: SNOMEDCT_US:189198006
xref: SNOMEDCT_US:42365007
xref: UMLS:C0270846
xref: UMLS:C1836509
is_a: HP:0002197 ! Generalized-onset seizure
created_by: peter
creation_date: 2010-07-10T03:13:06Z

[Term]
id: HP:0010820
name: Dacrystic seizures
def: "A type of seizure characterized by crying or an outburst of crying as a major feature." [HPO:probinson, pmid:993803]
comment: The word dacrystic is derived from the Greek word dakryon (tear).
xref: UMLS:C4023693
is_a: HP:0025613 ! Focal emotional seizure
created_by: peter
creation_date: 2010-07-10T03:23:32Z

[Term]
id: HP:0010821
name: Gelastic seizures
def: "A type of seizure characterized by laughing or an outburst of laughing as a major feature." [HPO:probinson]
comment: Laughter is usually lasts briefly, about 30s. Laughing can also be a component of several other kinds of seizures such as partial seizures with motor symptoms, myoclonic seizures, axial tonic seizures, flexor spasms, generalized convulsive seizures, and petit mal absences.
xref: MSH:D004828
xref: SNOMEDCT_US:89525009
xref: UMLS:C0270820
is_a: HP:0011153 ! Focal motor seizure
created_by: peter
creation_date: 2010-07-10T03:27:12Z

[Term]
id: HP:0010822
name: Scintillating scotoma
def: "A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights." [HPO:probinson]
xref: MSH:D012607
xref: SNOMEDCT_US:2228002
xref: UMLS:C0235068
is_a: HP:0000575 ! Scotoma
created_by: peter
creation_date: 2010-07-10T03:35:29Z

[Term]
id: HP:0010823
name: Ridged cranial sutures
def: "An overlap of the bony plates of the skull in an infant, with or without early closure." [HPO:probinson]
subset: hposlim_core
synonym: "Cranial suture ridges" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023692
is_a: HP:0011329 ! Abnormality of cranial sutures
created_by: peter
creation_date: 2010-07-10T03:46:25Z

[Term]
id: HP:0010824
name: Abnormal fifth cranial nerve morphology
def: "Any structural abormality of the fifth cranial nerve." [HPO:probinson]
synonym: "Abnormal trigeminal nerve morphology" EXACT []
synonym: "Abnormality of the fifth cranial nerve" EXACT []
synonym: "Abnormality of the nervus trigeminus" EXACT []
xref: UMLS:C4021226
is_a: HP:0001291 ! Abnormal cranial nerve morphology
created_by: peter
creation_date: 2010-07-10T03:51:21Z

[Term]
id: HP:0010825
name: Abnormality of the eleventh cranial nerve
def: "Abnormality of the eleventh cranial nerve." [HPO:probinson]
synonym: "Abnormality of cranial nerve XI" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the accessory nerve" EXACT []
xref: UMLS:C4021225
is_a: HP:0001291 ! Abnormal cranial nerve morphology
created_by: peter
creation_date: 2010-07-10T03:54:53Z

[Term]
id: HP:0010826
name: Abnormality of the twelfth cranial nerve
def: "Abnormality of the twelfth cranial nerve." [HPO:probinson]
synonym: "Abnormality of cranial nerve 12" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of cranial nerve xii" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the hypoglossal nerve" EXACT []
xref: UMLS:C4021224
is_a: HP:3000075 ! Abnormal lingual nerve morphology
created_by: peter
creation_date: 2010-07-10T03:58:00Z

[Term]
id: HP:0010827
name: Abnormality of the seventh cranial nerve
def: "Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve." [HPO:probinson]
synonym: "Abnormality of the facial nerve" EXACT []
xref: UMLS:C4021223
is_a: HP:0001291 ! Abnormal cranial nerve morphology
created_by: peter
creation_date: 2010-07-10T04:04:55Z

[Term]
id: HP:0010828
name: Hemifacial spasm
def: "Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions." [HPO:probinson, PMID:12145388]
comment: Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus.
synonym: "Hemifacial spasms" RELATED [HPO:skoehler]
synonym: "Spasms on one side of the face" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D019569
xref: SNOMEDCT_US:13753008
xref: UMLS:C0278152
is_a: HP:0003739 ! Myoclonic spasms
created_by: peter
creation_date: 2010-07-10T04:15:33Z

[Term]
id: HP:0010829
name: Impaired temperature sensation
alt_id: HP:0100772
def: "A reduced ability to discriminate between different temperatures." [HPO:probinson]
comment: Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C.
synonym: "Abnormality of temperature sensation" EXACT layperson []
synonym: "Impaired temperature sensation" EXACT layperson []
synonym: "Loss of temperature sensation" EXACT layperson []
xref: UMLS:C4021222
is_a: HP:0003474 ! Sensory impairment
created_by: peter
creation_date: 2010-07-10T07:08:10Z

[Term]
id: HP:0010830
name: Impaired tactile sensation
def: "A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [HPO:probinson]
synonym: "Impaired touch sensation" EXACT layperson []
synonym: "Loss of tactile sensation" EXACT []
xref: UMLS:C4021221
is_a: HP:0003474 ! Sensory impairment
created_by: peter
creation_date: 2010-07-10T07:09:54Z

[Term]
id: HP:0010831
name: Impaired proprioception
alt_id: HP:0010870
def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson]
synonym: "Abnormality of proprioception" EXACT []
xref: UMLS:C1856691
is_a: HP:0003474 ! Sensory impairment
created_by: peter
creation_date: 2010-07-10T07:12:53Z

[Term]
id: HP:0010832
name: Abnormality of pain sensation
def: "Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain." [HPO:probinson]
xref: UMLS:C4023691
is_a: HP:0003474 ! Sensory impairment
created_by: peter
creation_date: 2010-07-10T07:15:58Z

[Term]
id: HP:0010833
name: Spontaneous pain sensation
def: "Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger." [HPO:probinson]
xref: UMLS:C4023690
is_a: HP:0010832 ! Abnormality of pain sensation
created_by: peter
creation_date: 2010-07-10T07:19:19Z

[Term]
id: HP:0010834
name: Trophic changes related to pain
def: "Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails." [HPO:probinson]
synonym: "Trophic changes" EXACT []
xref: UMLS:C4021220
is_a: HP:0010832 ! Abnormality of pain sensation
created_by: peter
creation_date: 2010-07-10T07:23:26Z

[Term]
id: HP:0010835
name: Dissociated sensory loss
def: "A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa." [HPO:probinson]
comment: Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem.
xref: SNOMEDCT_US:87275002
xref: UMLS:C0278136
is_a: HP:0003474 ! Sensory impairment
created_by: peter
creation_date: 2010-07-10T07:28:04Z

[Term]
id: HP:0010836
name: Abnormal circulating copper concentration
def: "An abnormal concentration of copper." [HPO:probinson]
comment: An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins.
synonym: "Abnormal copper levels" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020766
xref: UMLS:C4023689
is_a: HP:0011030 ! Abnormal blood transition element cation concentration
created_by: peter
creation_date: 2010-07-10T07:39:09Z

[Term]
id: HP:0010837
name: Decreased serum ceruloplasmin
def: "Decreased concentration of ceruloplasmin in the blood." [HPO:probinson]
comment: Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism.
synonym: "Decreased serum ceruloplasmin" EXACT layperson []
synonym: "Hypoceruloplasminaemia" EXACT HP:0045076 []
synonym: "Hypoceruloplasminemia" EXACT []
xref: UMLS:C0240997
is_a: HP:0010876 ! Abnormal circulating protein level
created_by: peter
creation_date: 2010-07-10T07:39:36Z

[Term]
id: HP:0010838
name: High nonceruloplasmin-bound serum copper
def: "An increased concentration of non ceruloplasmin bound copper in the blood." [HPO:probinson]
xref: UMLS:C1848459
is_a: HP:0010836 ! Abnormal circulating copper concentration
created_by: peter
creation_date: 2010-07-10T07:43:39Z

[Term]
id: HP:0010839
name: Increased urinary copper concentration
def: "An increased concentration of copper in the urine." [HPO:probinson]
synonym: "Increased urinary copper concentration" EXACT layperson []
xref: UMLS:C4023688
is_a: HP:0045036 ! Abnormal urinary copper concentration
created_by: peter
creation_date: 2010-07-10T07:44:50Z

[Term]
id: HP:0010841
name: Multifocal epileptiform discharges
def: "An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [HPO:probinson]
synonym: "Multifocal EEG abnormality" EXACT []
xref: UMLS:C4021219
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: peter
creation_date: 2010-07-10T08:01:28Z

[Term]
id: HP:0010843
name: EEG with focal slow activity
def: "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)." [HPO:probinson]
synonym: "EEG: focal slow activity" EXACT []
synonym: "EEG: localised slow activity" EXACT []
synonym: "EEG: localized slow activity" EXACT []
xref: UMLS:C4021218
is_a: HP:0011203 ! EEG with abnormally slow frequencies
created_by: peter
creation_date: 2010-07-10T08:10:59Z

[Term]
id: HP:0010844
name: EEG with multifocal slow activity
def: "Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers]
xref: UMLS:C4023687
is_a: HP:0011203 ! EEG with abnormally slow frequencies
created_by: peter
creation_date: 2010-07-10T08:13:54Z

[Term]
id: HP:0010845
name: EEG with generalized slow activity
def: "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson]
comment: Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain.
synonym: "EEG: generalised slow activity" EXACT []
synonym: "EEG: generalized slow activity" EXACT []
xref: UMLS:C4021217
is_a: HP:0011203 ! EEG with abnormally slow frequencies
created_by: peter
creation_date: 2010-07-10T08:15:05Z

[Term]
id: HP:0010846
name: EEG with persistent abnormal rhythmic activity
synonym: "EEG: persistent abnormal rhythmic activity" EXACT []
xref: UMLS:C4021216
is_a: HP:0011176 ! EEG with constitutional variants
created_by: peter
creation_date: 2010-07-10T08:18:01Z

[Term]
id: HP:0010847
name: EEG with spike-wave complexes (<2.5 Hz)
def: "The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG)." [HPO:probinson]
comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave.
xref: UMLS:C4023686
is_a: HP:0010850 ! EEG with spike-wave complexes
created_by: peter
creation_date: 2010-07-10T08:18:25Z

[Term]
id: HP:0010848
name: EEG with spike-wave complexes (2.5-3.5 Hz)
def: "The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG)." [HPO:probinson]
xref: UMLS:C4023685
is_a: HP:0010850 ! EEG with spike-wave complexes
created_by: peter
creation_date: 2010-07-10T08:21:13Z

[Term]
id: HP:0010849
name: EEG with spike-wave complexes (>3.5 Hz)
alt_id: HP:0007261
def: "The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)." [HPO:probinson]
synonym: "EEG with 3-4-Hz spike waves" RELATED []
xref: UMLS:C4020765
xref: UMLS:C4023684
is_a: HP:0010850 ! EEG with spike-wave complexes
created_by: peter
creation_date: 2010-07-10T08:22:40Z

[Term]
id: HP:0010850
name: EEG with spike-wave complexes
def: "Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson]
xref: UMLS:C4023683
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
created_by: peter
creation_date: 2010-07-10T08:23:28Z

[Term]
id: HP:0010851
name: EEG with burst suppression
def: "The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes." [HPO:probinson, PMID:22323592]
comment: Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). Burst suppression is an electroencephalogram (EEG) pattern in which high voltage activity (burst) and flatline (suppression) periods alternate systematically but quasiperiodically (almost periodic but with variations in inter- and intra-burst duration) is a state of profound brain inactivation.
xref: UMLS:C1969156
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
created_by: peter
creation_date: 2010-07-11T08:02:41Z

[Term]
id: HP:0010852
name: EEG with photoparoxysmal response
alt_id: HP:0001330
def: "EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns." [HPO:probinson]
comment: In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses.
synonym: "Photoparoxysmal response on EEG" EXACT []
xref: UMLS:C3552821
is_a: HP:0002353 ! EEG abnormality
created_by: peter
creation_date: 2010-07-11T08:10:17Z

[Term]
id: HP:0010853
name: EEG with periodic lateralized epileptiform discharges
def: "Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds)." [HPO:probinson]
comment: The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance.
synonym: "EEG: periodic lateralized epileptiform discharges" EXACT []
xref: UMLS:C4021215
is_a: HP:0011186 ! Focal epileptiform discharges with limited propagation to contralateral hemisphere
created_by: peter
creation_date: 2010-07-11T08:25:02Z

[Term]
id: HP:0010854
name: EEG with generalized low amplitude activity
def: "An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson]
synonym: "EEG: generalised low amplitude activity" EXACT []
xref: UMLS:C4021214
is_a: HP:0011201 ! EEG with changes in voltage
created_by: peter
creation_date: 2010-07-11T08:34:13Z

[Term]
id: HP:0010855
name: EEG with localized low amplitude activity
def: "An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson]
synonym: "EEG: localised low amplitude activity" EXACT []
xref: UMLS:C4021213
is_a: HP:0011201 ! EEG with changes in voltage
created_by: peter
creation_date: 2010-07-11T08:36:03Z

[Term]
id: HP:0010856
name: EEG with periodic complexes
def: "Periodically occurring generalized periodic complexes." [HPO:jalbers]
synonym: "EEG: periodic complexes" EXACT []
synonym: "Radermecker complexes" EXACT []
xref: UMLS:C4021212
is_a: HP:0010857 ! EEG with periodic abnormalities
created_by: peter
creation_date: 2010-07-11T08:38:52Z

[Term]
id: HP:0010857
name: EEG with periodic abnormalities
def: "Periodically recurring abnormalities in the EEG." [HPO:probinson]
synonym: "EEG: periodic abnormalities" EXACT []
xref: UMLS:C4021211
is_a: HP:0011200 ! EEG with generalized polymorphic epileptiform discharges
created_by: peter
creation_date: 2010-07-11T08:39:39Z

[Term]
id: HP:0010858
name: EEG with hyperventilation-induced epileptiform discharges
def: "Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson]
comment: Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges.
xref: UMLS:C4023682
is_a: HP:0011182 ! Interictal epileptiform activity
created_by: peter
creation_date: 2010-07-11T08:44:38Z

[Term]
id: HP:0010859
name: Frank breech presentation
def: "A kind of breech presentation in which the hips are flexed and the knees are extended." [HPO:curators]
xref: MSH:D001946
xref: SNOMEDCT_US:18559007
xref: UMLS:C0233286
is_a: HP:0001623 ! Breech presentation
created_by: peter
creation_date: 2010-08-03T12:33:15Z

[Term]
id: HP:0010860
name: Complete breech presentation
def: "A kind of breech presentation in which the hips are flexed and the knees are flexed." [HPO:probinson]
xref: MSH:D001946
xref: SNOMEDCT_US:49168004
xref: UMLS:C0233283
is_a: HP:0001623 ! Breech presentation
created_by: peter
creation_date: 2010-08-03T12:34:30Z

[Term]
id: HP:0010861
name: Incomplete breech presentation
def: "A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal." [HPO:probinson]
xref: MSH:D001946
xref: SNOMEDCT_US:38049006
xref: UMLS:C0426146
is_a: HP:0001623 ! Breech presentation
created_by: peter
creation_date: 2010-08-03T12:34:57Z

[Term]
id: HP:0010862
name: Delayed fine motor development
def: "A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands." [HPO:probinson]
xref: UMLS:C4023681
is_a: HP:0001270 ! Motor delay
created_by: peter
creation_date: 2010-08-03T05:44:08Z

[Term]
id: HP:0010863
name: Receptive language delay
def: "A delay in the acquisition of the ability to understand the speech of others." [HPO:probinson]
xref: SNOMEDCT_US:229736005
xref: UMLS:C0454642
is_a: HP:0000750 ! Delayed speech and language development
created_by: peter
creation_date: 2010-08-03T06:02:52Z

[Term]
id: HP:0010864
name: Intellectual disability, severe
alt_id: HP:0007196
def: "Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
comment: Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision.
synonym: "Early and severe mental retardation" EXACT layperson []
synonym: "Intellectual disability, severe" EXACT layperson []
synonym: "Mental retardation, severe" EXACT layperson []
synonym: "Severe mental retardation" EXACT layperson []
xref: SNOMEDCT_US:40700009
xref: UMLS:C0036857
is_a: HP:0001249 ! Intellectual disability
created_by: peter
creation_date: 2010-08-03T06:29:35Z

[Term]
id: HP:0010865
name: Oppositional defiant disorder
def: "An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents." [DSM:313.81, HPO:probinson]
comment: Oppositional defiant disorder is basically a persistent pattern of tantrums, arguing, and angry or disruptive behavior that goes beyond what can be considered normal.
xref: MSH:D019958
xref: SNOMEDCT_US:18941000
xref: UMLS:C0029121
is_a: HP:0000708 ! Behavioral abnormality
created_by: peter
creation_date: 2010-08-03T07:09:09Z

[Term]
id: HP:0010866
name: Abdominal wall defect
def: "An incomplete closure of the abdominal wall." [HPO:probinson]
synonym: "Abdominal wall defect" EXACT layperson []
synonym: "Congenital anterior abdominal wall defect" EXACT []
xref: UMLS:C0238577
is_a: HP:0004298 ! Abnormality of the abdominal wall
created_by: peter
creation_date: 2010-08-03T09:55:15Z

[Term]
id: HP:0010867
name: Dyssynergia
def: "A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts." [HPO:probinson]
xref: MSH:D001259
xref: SNOMEDCT_US:20262006
xref: SNOMEDCT_US:39384006
xref: UMLS:C0004134
is_a: HP:0001251 ! Ataxia
created_by: peter
creation_date: 2010-08-18T01:17:10Z

[Term]
id: HP:0010868
name: Ocular dyssynergia
def: "A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field." [HPO:probinson]
xref: UMLS:C4023680
is_a: HP:0010867 ! Dyssynergia
created_by: peter
creation_date: 2010-08-18T01:20:05Z

[Term]
id: HP:0010869
name: Asynergia
def: "A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed." [HPO:probinson]
xref: SNOMEDCT_US:77743009
xref: UMLS:C0234355
is_a: HP:0010867 ! Dyssynergia
created_by: peter
creation_date: 2010-08-18T01:39:38Z

[Term]
id: HP:0010871
name: Sensory ataxia
def: "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." [HPO:probinson]
comment: Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits.
synonym: "Afferent ataxia" EXACT []
synonym: "Ataxia, sensory" EXACT [HPO:skoehler]
synonym: "Spinal ataxia" EXACT []
xref: MSH:D001259
xref: SNOMEDCT_US:445458007
xref: SNOMEDCT_US:69131009
xref: UMLS:C0037921
xref: UMLS:C0240991
is_a: HP:0010831 ! Impaired proprioception
created_by: peter
creation_date: 2010-08-18T01:57:54Z

[Term]
id: HP:0010872
name: T-wave inversion
def: "An inversion of the T-wave (which is normally positive)." [HPO:probinson]
synonym: "EKG: T-wave inversion" EXACT []
xref: SNOMEDCT_US:59931005
xref: UMLS:C0520888
is_a: HP:0005135 ! Abnormal T-wave
created_by: peter
creation_date: 2010-08-25T03:29:13Z

[Term]
id: HP:0010873
name: Cervical spinal cord atrophy
def: "Atrophy of the cervical segment of the spinal cord." [HPO:probinson]
xref: UMLS:C0742191
is_a: HP:0006827 ! Atrophy of the spinal cord
created_by: peter
creation_date: 2010-08-25T03:41:38Z

[Term]
id: HP:0010874
name: Tendon xanthomatosis
def: "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows)." [HPO:probinson]
synonym: "Tendon xanthomas" EXACT []
xref: SNOMEDCT_US:69880002
xref: UMLS:C0221253
is_a: HP:0000991 ! Xanthomatosis
is_a: HP:0100261 ! Abnormal tendon morphology
created_by: peter
creation_date: 2010-08-30T11:01:16Z

[Term]
id: HP:0010875
name: Chaddock reflex
def: "A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract." [HPO:probinson]
xref: SNOMEDCT_US:413813004
xref: UMLS:C1531651
is_a: HP:0007256 ! Abnormal pyramidal sign
created_by: peter
creation_date: 2010-09-07T12:11:07Z

[Term]
id: HP:0010876
name: Abnormal circulating protein level
def: "An abnormal level of a circulating protein in the blood." [HPO:probinson]
synonym: "Abnormality of circulating protein level" EXACT []
synonym: "Blood protein disease" RELATED layperson []
synonym: "Serum protein abnormality" RELATED []
xref: UMLS:C4020763
xref: UMLS:C4020764
xref: UMLS:C4023679
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
created_by: peter
creation_date: 2010-09-07T01:51:12Z

[Term]
id: HP:0010877
name: Monocular strabismus
def: "A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times." [HPO:probinson]
synonym: "Unilateral strabismus" EXACT []
xref: UMLS:C4023678
is_a: HP:0000486 ! Strabismus
created_by: peter
creation_date: 2010-09-08T10:47:57Z

[Term]
id: HP:0010878
name: Fetal cystic hygroma
def: "The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm." [emedicine:402757, HPO:probinson]
comment: Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm.
xref: MSH:C537852
xref: UMLS:C0948242
is_a: HP:0000476 ! Cystic hygroma
is_a: HP:0010880 ! Increased nuchal translucency
created_by: peter
creation_date: 2010-09-13T08:02:26Z

[Term]
id: HP:0010879
name: Postnatal cystic hygroma
xref: UMLS:C4023677
is_a: HP:0000476 ! Cystic hygroma
created_by: peter
creation_date: 2010-09-13T08:08:47Z

[Term]
id: HP:0010880
name: Increased nuchal translucency
def: "The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination)." [HPO:probinson, pmid:12751779]
comment: Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency.
xref: UMLS:C4023676
is_a: HP:0000969 ! Edema
is_a: HP:0001197 ! Abnormality of prenatal development or birth
created_by: peter
creation_date: 2010-09-13T08:15:19Z

[Term]
id: HP:0010881
name: Abnormality of the umbilical cord
def: "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta." [HPO:probinson]
synonym: "Umbilical cord issue" EXACT layperson []
xref: SNOMEDCT_US:90009001
xref: UMLS:C0266785
is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord
created_by: peter
creation_date: 2010-09-13T08:24:04Z

[Term]
id: HP:0010882
name: Pulmonary valve atresia
def: "A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop." [HPO:probinson]
xref: Fyler:1001
xref: MSH:D018633
xref: SNOMEDCT_US:204342004
xref: SNOMEDCT_US:448564004
xref: UMLS:C0242855
is_a: HP:0001641 ! Abnormal pulmonary valve morphology
created_by: peter
creation_date: 2010-09-20T11:08:09Z

[Term]
id: HP:0010883
name: Aortic valve atresia
def: "A congenital disorder of the aortic valve in which the orifice of the valve fails to develop." [HPO:probinson]
synonym: "Aortic atresia" EXACT []
xref: SNOMEDCT_US:51442005
xref: UMLS:C0265843
is_a: HP:0001646 ! Abnormal aortic valve morphology
created_by: peter
creation_date: 2010-09-20T11:09:46Z

[Term]
id: HP:0010884
name: Acromelia
def: "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C4023675
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities
created_by: peter
creation_date: 2010-09-20T11:17:40Z

[Term]
id: HP:0010885
name: Avascular necrosis
def: "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken]
comment: The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases.
synonym: "Aseptic bone necrosis" EXACT []
synonym: "Aseptic necrosis" EXACT []
synonym: "Bone infarction" EXACT []
synonym: "Death of bone due to decreased blood supply" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Ischemic bone necrosis" EXACT []
synonym: "Osteochondronecrosis" EXACT []
synonym: "Osteonecrosis" EXACT []
xref: MSH:D010020
xref: SNOMEDCT_US:240196003
xref: SNOMEDCT_US:398199007
xref: SNOMEDCT_US:72756009
xref: UMLS:C0029445
xref: UMLS:C0085660
xref: UMLS:C0520474
xref: UMLS:C0877326
is_a: HP:0011843 ! Abnormality of skeletal physiology
created_by: sdoelken
creation_date: 2010-09-24T10:11:05Z

[Term]
id: HP:0010886
name: Osteochondritis Dissecans
def: "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage." [HPO:sdoelken]
comment: Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints.
synonym: "Osteochondrosis dissecans" EXACT []
xref: MSH:D010008
xref: SNOMEDCT_US:82562007
xref: UMLS:C0029421
is_a: HP:0040188 ! Osteochondrosis
created_by: sdoelken
creation_date: 2010-09-24T10:15:07Z

[Term]
id: HP:0010888
name: Morbus Koehler
def: "Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis." [HPO:sdoelken]
xref: UMLS:C4023674
is_a: HP:0100323 ! Juvenile aseptic necrosis
is_a: HP:0100339 ! Abnormality of the os naviculare pedis
created_by: sdoelken
creation_date: 2010-09-25T11:04:19Z

[Term]
id: HP:0010889
name: Morbus Kienboeck
def: "Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum." [HPO:sdoelken]
comment: Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum.
synonym: "Kienboeck's disease" EXACT []
synonym: "Kienböck's disease" EXACT []
synonym: "Lunatomalacia" EXACT []
xref: MSH:D010020
xref: SNOMEDCT_US:360466009
xref: SNOMEDCT_US:367356000
xref: SNOMEDCT_US:84062004
xref: UMLS:C0022682
is_a: HP:0004248 ! Abnormality of the lunate bone
is_a: HP:0100323 ! Juvenile aseptic necrosis
created_by: sdoelken
creation_date: 2010-09-25T11:04:19Z

[Term]
id: HP:0010890
name: Morbus Osgood-Schlatter
def: "Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae." [HPO:sdoelken]
comment: Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where tha patellar tendon inserts.
synonym: "Osgood Schlatter disease" EXACT []
xref: MSH:D055034
xref: SNOMEDCT_US:72047008
xref: SNOMEDCT_US:79353000
xref: UMLS:C0029376
is_a: HP:0002992 ! Abnormality of tibia morphology
is_a: HP:0100323 ! Juvenile aseptic necrosis
created_by: sdoelken
creation_date: 2010-09-25T11:04:19Z

[Term]
id: HP:0010891
name: Morbus Scheuermann
def: "A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays)." [HPO:sdoelken]
comment: Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum.
synonym: "Calve disease" EXACT []
synonym: "Juvenile Osteochondrosis of the spine" EXACT []
synonym: "Scheuermann disease" EXACT []
synonym: "Scheuermann kyphosis" EXACT []
synonym: "Sherman's Disease" EXACT []
xref: MSH:D012544
xref: SNOMEDCT_US:53406005
xref: UMLS:C0036310
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0100323 ! Juvenile aseptic necrosis
created_by: sdoelken
creation_date: 2010-09-25T11:04:19Z

[Term]
id: HP:0010892
name: Abnormal circulating branched chain amino acid concentration
def: "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation." [HPO:probinson]
xref: UMLS:C4023673
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2010-11-11T02:53:04Z

[Term]
id: HP:0010893
name: Abnormal circulating phenylalanine concentration
def: "Any deviation from the normal concentration of phenylalanine in the blood circulation." [HPO:probinson]
synonym: "Abnormality of phenylalanine metabolism" EXACT []
xref: UMLS:C4023672
is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration
created_by: peter
creation_date: 2010-11-11T03:23:30Z

[Term]
id: HP:0010894
name: Abnormal circulating serine family amino acid concentration
def: "Any deviation from the normal concentration of a serine family amino acid in the blood circulation." [HPO:probinson]
synonym: "Abnormality of serine family amino acid metabolism" EXACT []
xref: UMLS:C4023671
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2010-11-30T05:21:41Z

[Term]
id: HP:0010895
name: Abnormal circulating glycine concentration
def: "Any deviation from the normal concentration of glycine in the blood circulation." [HPO:gcarletti]
xref: UMLS:C4023670
is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration
created_by: peter
creation_date: 2010-11-30T05:27:24Z

[Term]
id: HP:0010896
name: Hypersarcosinemia
def: "An elevated plasma concentration of sarcosine." [HPO:gcarletti]
comment: Sarcosine is the N-methyl derivative of glycine.
synonym: "High plasma sarcosine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C537236
xref: SNOMEDCT_US:64852002
xref: UMLS:C0268563
is_a: HP:0010898 ! Abnormal circulating sarcosine concentration
created_by: peter
creation_date: 2010-11-30T05:38:24Z

[Term]
id: HP:0010897
name: Hypersarcosinuria
def: "An elevated urinary concentration of sarcosine." [HPO:gcarletti]
synonym: "High urine sarcosine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023669
is_a: HP:0010898 ! Abnormal circulating sarcosine concentration
created_by: peter
creation_date: 2010-11-30T05:43:45Z

[Term]
id: HP:0010898
name: Abnormal circulating sarcosine concentration
def: "An deviation from the normal concentration of sarcosine in the blood circulation." [HPO:probinson]
comment: Sarcosine, which is also known as N-methylglycine, is an intermediate and byproduct in glycine synthesis and degradation.
xref: UMLS:C4023668
is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration
created_by: peter
creation_date: 2010-11-30T05:44:10Z

[Term]
id: HP:0010899
name: Abnormal circulating aspartate family amino acid concentration
def: "Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation." [HPO:probinson]
xref: UMLS:C4023667
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2010-12-02T04:40:57Z

[Term]
id: HP:0010900
name: Abnormal circulating threonine concentration
def: "Any deviation from the normal concentration of threonine in the blood circulation." [HPO:probinson]
synonym: "Abnormality of threonine metabolism" EXACT []
xref: UMLS:C4023666
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
created_by: peter
creation_date: 2010-12-02T04:42:19Z

[Term]
id: HP:0010901
name: Abnormal circulating methionine concentration
def: "Any deviation from the normal concentration of methionine in the blood circulation." [HPO:probinson]
synonym: "Abnormality of methionine metabolism" EXACT []
xref: UMLS:C4023665
is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
created_by: peter
creation_date: 2010-12-02T05:15:22Z

[Term]
id: HP:0010902
name: Abnormal circulating glutamine family amino acid concentration
def: "Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation." [HPO:probinson]
xref: UMLS:C4023664
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2010-12-03T04:30:22Z

[Term]
id: HP:0010903
name: Abnormal circulating glutamine concentration
def: "Any deviation from the normal concentration of glutamine in the blood circulation." [HPO:probinson]
comment: Glutamine is a charge-neutral, polar amino acid.
xref: UMLS:C4023663
is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration
created_by: peter
creation_date: 2010-12-03T04:31:22Z

[Term]
id: HP:0010904
name: Abnormal circulating histidine concentration
def: "An abnormality of a histidine metabolic process." [HPO:probinson]
synonym: "Abnormality of histidine metabolism" EXACT []
xref: UMLS:C4023662
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2010-12-08T07:13:56Z

[Term]
id: HP:0010905
name: obsolete Abnormality of histidine metabolism
is_obsolete: true
replaced_by: HP:0010904

[Term]
id: HP:0010906
name: Hyperhistidinemia
def: "An increased concentration of histidine in the blood." [HPO:gcarletti]
comment: Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter.
synonym: "High blood histidine level" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Histidinemia" EXACT []
xref: MSH:C538320
xref: SNOMEDCT_US:124628005
xref: SNOMEDCT_US:410058007
xref: UMLS:C0220992
is_a: HP:0010904 ! Abnormal circulating histidine concentration
created_by: peter
creation_date: 2010-12-08T07:27:47Z

[Term]
id: HP:0010907
name: Abnormal circulating proline concentration
def: "Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation." [HPO:gcarletti]
xref: UMLS:C4023661
is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration
created_by: peter
creation_date: 2010-12-08T07:50:08Z

[Term]
id: HP:0010908
name: Abnormal circulating lysine concentration
def: "Any deviation from the normal concentration of lysine in the blood circulation." [HPO:gcarletti]
synonym: "Abnormality of lysine metabolism" EXACT []
xref: UMLS:C4023660
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
created_by: peter
creation_date: 2010-12-08T08:05:55Z

[Term]
id: HP:0010909
name: Abnormal circulating arginine concentration
def: "Any deviation from the normal concentration of arginine in the blood circulation." [HPO:probinson]
comment: Arginine is a charged, aliphatic amino acid.
synonym: "Abnormality of arginine metabolism" EXACT []
xref: UMLS:C4023659
is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration
created_by: peter
creation_date: 2010-12-08T08:25:05Z

[Term]
id: HP:0010910
name: Hypervalinemia
def: "An increased concentration of valine in the blood." [HPO:gcarletti]
synonym: "High blood valine concentration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C536524
xref: SNOMEDCT_US:47719001
xref: UMLS:C0268573
is_a: HP:0010914 ! Abnormal circulating valine concentration
created_by: peter
creation_date: 2010-12-08T08:44:27Z

[Term]
id: HP:0010911
name: Hyperleucinemia
def: "An increased concentration of leucine in the blood." [HPO:gcarletti]
comment: Normal leucine blood levels are around 120-160 micromole per liter.
synonym: "High blood leucine concentration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:24013007
xref: UMLS:C0268576
is_a: HP:0004357 ! Abnormal circulating leucine concentration
created_by: peter
creation_date: 2010-12-08T08:45:56Z

[Term]
id: HP:0010912
name: Abnormal circulating isoleucine concentration
def: "Any deviation from the normal concentration of isoleucine in the blood circulation." [HPO:probinson]
xref: UMLS:C4023658
is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration
created_by: peter
creation_date: 2010-12-08T08:47:47Z

[Term]
id: HP:0010913
name: Hyperisoleucinemia
def: "An increased concentration of isoleucine in the blood." [HPO:gcarletti]
comment: Normal isoleucine blood levels are around 60-80 micromole per liter.
synonym: "High blood isoleucine concentration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023657
is_a: HP:0010912 ! Abnormal circulating isoleucine concentration
created_by: peter
creation_date: 2010-12-08T08:49:42Z

[Term]
id: HP:0010914
name: Abnormal circulating valine concentration
def: "Any deviation from the normal circulation of valine in the blood circulation." [HPO:probinson]
synonym: "Abnormality of valine metabolism" EXACT []
xref: UMLS:C4023656
is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration
created_by: peter
creation_date: 2010-12-08T08:51:14Z

[Term]
id: HP:0010915
name: Abnormal circulating pyruvate family amino acid concentration
def: "An abnormality of a pyruvate family amino acid metabolic process." [HPO:probinson]
synonym: "Abnormality of pyruvate family amino acid metabolism" EXACT []
xref: UMLS:C4023655
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2010-12-08T08:55:53Z

[Term]
id: HP:0010916
name: Abnormal circulating alanine concentration
def: "An abnormality of an alanine metabolic process." [HPO:gcarletti]
synonym: "Abnormality of alanine metabolism" EXACT []
xref: UMLS:C4023654
is_a: HP:0010915 ! Abnormal circulating pyruvate family amino acid concentration
created_by: peter
creation_date: 2010-12-08T08:57:53Z

[Term]
id: HP:0010917
name: Abnormal circulating tyrosine concentration
def: "Any deviation from the normal concentration of tyrosine in the blood circulation." [HPO:probinson]
xref: UMLS:C4023653
is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration
created_by: peter
creation_date: 2010-12-08T09:13:53Z

[Term]
id: HP:0010918
name: Abnormal circulating cysteine concentration
def: "An abnormality of a cysteine metabolic process." [HPO:probinson]
xref: UMLS:C4023652
is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration
created_by: peter
creation_date: 2010-12-11T11:45:39Z

[Term]
id: HP:0010919
name: Abnormal circulating homocysteine concentration
def: "An abnormality of a homocysteine metabolic process." [HPO:probinson]
xref: UMLS:C4023651
is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration
created_by: peter
creation_date: 2010-12-11T11:48:52Z

[Term]
id: HP:0010920
name: Zonular cataract
alt_id: HP:0007713
def: "Zonular cataracts are defined to be cataracts that affect specific regions of the lens." [HPO:probinson, HPO:vkumar, pmid:18035564]
comment: Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders.
xref: MSH:C535342
xref: UMLS:C1861821
is_a: HP:0000518 ! Cataract
created_by: peter
creation_date: 2010-12-12T12:00:37Z

[Term]
id: HP:0010921
name: Coralliform cataract
def: "A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form." [HPO:probinson, HPO:vkumar]
xref: UMLS:C1392104
is_a: HP:0010920 ! Zonular cataract
created_by: peter
creation_date: 2010-12-12T12:16:28Z

[Term]
id: HP:0010922
name: Membranous cataract
def: "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens." [HPO:probinson, pmid:17539799]
xref: MSH:D002386
xref: UMLS:C0524524
is_a: HP:0000518 ! Cataract
created_by: peter
creation_date: 2010-12-12T12:31:45Z

[Term]
id: HP:0010923
name: Anterior subcapsular cataract
def: "A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule." [HPO:probinson]
xref: SNOMEDCT_US:315352000
xref: UMLS:C1112768
is_a: HP:0000523 ! Subcapsular cataract
created_by: peter
creation_date: 2010-12-12T12:51:55Z

[Term]
id: HP:0010924
name: Posterior cortical cataract
def: "A cataract that affects the posterior part of the cortex of the lens." [HPO:probinson]
xref: UMLS:C4023650
is_a: HP:0100019 ! Cortical cataract
created_by: peter
creation_date: 2010-12-12T12:55:36Z

[Term]
id: HP:0010925
name: Nuclear punctate cataract
xref: UMLS:C4023649
is_a: HP:0007648 ! Punctate cataract
is_a: HP:0100018 ! Nuclear cataract
created_by: peter
creation_date: 2010-12-12T04:26:25Z

[Term]
id: HP:0010926
name: Aculeiform cataract
def: "A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens." [HPO:probinson, pmid:9718335]
comment: This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any.
synonym: "Fasciculiform cataract" EXACT []
synonym: "Frosted cataract" EXACT []
synonym: "Needle-shaped cataract" EXACT []
xref: MSH:C566162
xref: UMLS:C1861832
is_a: HP:0100018 ! Nuclear cataract
created_by: peter
creation_date: 2010-12-19T03:47:35Z

[Term]
id: HP:0010927
name: Abnormal blood inorganic cation concentration
def: "An abnormality of divalent inorganic cation homeostasis." [HPO:probinson]
synonym: "Abnormality of divalent inorganic cation homeostasis" EXACT []
xref: UMLS:C4023648
is_a: HP:0010929 ! Abnormal blood cation concentration
created_by: peter
creation_date: 2011-01-06T07:47:18Z

[Term]
id: HP:0010928
name: obsolete Increased urinary orotic acid concentration
is_obsolete: true
replaced_by: HP:0003218

[Term]
id: HP:0010929
name: Abnormal blood cation concentration
def: "An abnormality of cation homeostasis." [HPO:probinson]
synonym: "Abnormality of cation homeostasis" EXACT []
xref: UMLS:C4023646
is_a: HP:0003111 ! Abnormal blood ion concentration
created_by: peter
creation_date: 2011-01-06T10:36:04Z

[Term]
id: HP:0010930
name: Abnormal blood monovalent inorganic cation concentration
def: "An abnormality of monovalent inorganic cation homeostasis." [HPO:probinson]
synonym: "Abnormality of monovalent inorganic cation homeostasis" EXACT []
xref: UMLS:C4023645
is_a: HP:0010929 ! Abnormal blood cation concentration
created_by: peter
creation_date: 2011-01-06T10:38:38Z

[Term]
id: HP:0010931
name: Abnormal blood sodium concentration
def: "An abnormal concentration of sodium." [HPO:probinson]
synonym: "Abnormal blood Na+ levels" EXACT HP:0045077 []
synonym: "Abnormal circulating Na concentration" EXACT HP:0045077 []
synonym: "Abnormality of sodium homeostasis" EXACT []
xref: UMLS:C4023644
is_a: HP:0010930 ! Abnormal blood monovalent inorganic cation concentration
created_by: peter
creation_date: 2011-01-06T10:40:20Z

[Term]
id: HP:0010932
name: Abnormal circulating nucleobase concentration
def: "An abnormality of a nucleobase metabolic process." [HPO:probinson]
comment: This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine.
synonym: "Abnormal nucleoside levels" RELATED []
xref: UMLS:C4020762
xref: UMLS:C4023643
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
created_by: peter
creation_date: 2011-01-06T10:46:17Z

[Term]
id: HP:0010933
name: Hyperxanthinemia
def: "An increased level of xanthine in the blood circulation." [HPO:probinson, PMID:9153281]
comment: Xanthine is a purine base that is a product of purine degradation.
xref: UMLS:C4023642
is_a: HP:0004368 ! Increased purine level
created_by: peter
creation_date: 2011-01-10T07:53:26Z

[Term]
id: HP:0010934
name: Xanthinuria
def: "An increased concentration of xanthine in the urine." [HPO:gcarletti]
comment: Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality.
synonym: "Increased urinary xanthine" EXACT []
xref: SNOMEDCT_US:190919008
xref: SNOMEDCT_US:54627004
xref: UMLS:C0220988
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2011-01-10T07:55:12Z

[Term]
id: HP:0010935
name: Abnormality of the upper urinary tract
def: "An abnormality of the upper urinary tract." [HPO:probinson]
comment: The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters.
synonym: "Abnormality of the upper urinary tract" EXACT layperson []
xref: UMLS:C4023641
is_a: HP:0000079 ! Abnormality of the urinary system
created_by: peter
creation_date: 2011-01-16T11:37:29Z

[Term]
id: HP:0010936
name: Abnormality of the lower urinary tract
def: "An abnormality of the lower urinary tract." [HPO:probinson]
comment: The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra.
xref: UMLS:C4023640
is_a: HP:0000079 ! Abnormality of the urinary system
created_by: peter
creation_date: 2011-01-16T11:39:17Z

[Term]
id: HP:0010937
name: Abnormality of the nasal skeleton
def: "An abnormality of the nasal skeleton." [HPO:probinson]
synonym: "Abnormality of the nasal skeleton" EXACT layperson []
synonym: "Anomaly of the nasal skeleton" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Distortion of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Distortion of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023639
xref: UMLS:C4280361
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0000924 ! Abnormality of the skeletal system
created_by: peter
creation_date: 2011-01-16T02:19:38Z

[Term]
id: HP:0010938
name: Abnormality of the external nose
def: "An abnormality of the external nose." [HPO:probinson]
synonym: "Abnormality of the external nose" EXACT layperson []
synonym: "Anomaly of the external nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the external nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the external nose" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C2164724
xref: UMLS:C4023638
xref: UMLS:C4280360
is_a: HP:0000366 ! Abnormality of the nose
created_by: peter
creation_date: 2011-01-16T02:21:10Z

[Term]
id: HP:0010939
name: Abnormality of the nasal bone
def: "An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone." [HPO:probinson]
synonym: "Abnormality of the nasal bone" EXACT layperson []
synonym: "Anomaly of the nasal bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasal bones" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasal bones" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023637
is_a: HP:0010937 ! Abnormality of the nasal skeleton
created_by: peter
creation_date: 2011-01-16T02:28:45Z

[Term]
id: HP:0010940
name: Aplasia/Hypoplasia of the nasal bone
def: "Absence or underdevelopment of the nasal bone." [HPO:probinson]
xref: UMLS:C4023636
is_a: HP:0010939 ! Abnormality of the nasal bone
created_by: peter
creation_date: 2011-01-16T02:31:16Z

[Term]
id: HP:0010941
name: Aplasia of the nasal bone
def: "Absence of the nasal bone." [HPO:probinson]
synonym: "Absence of the nasal bone" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of the nasal bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of the nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Lack of development of the nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing nasal bone" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C562753
xref: SNOMEDCT_US:91900007
xref: UMLS:C0339850
xref: UMLS:C0339851
xref: UMLS:C4023635
is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone
created_by: peter
creation_date: 2011-01-16T02:32:39Z

[Term]
id: HP:0010942
name: Echogenic intracardiac focus
def: "A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart." [HPO:probinson, pmid:16100637, pmid:9527573]
comment: An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF.
xref: UMLS:C4023634
is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2011-01-16T02:52:26Z

[Term]
id: HP:0010943
name: Echogenic fetal bowel
def: "Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone." [HPO:probinson, pmid:16100637, pmid:20175047]
comment: Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater.
synonym: "Echogenic bowel" EXACT []
xref: MSH:D058535
xref: UMLS:C2936423
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2011-01-16T03:04:36Z

[Term]
id: HP:0010944
name: Abnormal renal pelvis morphology
def: "An abnormality of the renal pelvis." [HPO:probinson]
synonym: "Abnormality of the renal pelvis" EXACT []
xref: UMLS:C4023633
is_a: HP:0012210 ! Abnormal renal morphology
created_by: peter
creation_date: 2011-01-16T03:33:55Z

[Term]
id: HP:0010945
name: Fetal pyelectasis
def: "Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement." [HPO:probinson, pmid:16100637]
comment: The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (pmid:16100637).
synonym: "Fetal renal pelvic dilatation" EXACT []
synonym: "Mild fetal hydronephrosis" EXACT []
xref: MSH:D058536
xref: SNOMEDCT_US:430035004
xref: UMLS:C2317073
is_a: HP:0010946 ! Dilatation of the renal pelvis
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2011-01-16T03:36:31Z

[Term]
id: HP:0010946
name: Dilatation of the renal pelvis
def: "The presence of dilatation of the renal pelvis." [HPO:probinson]
xref: UMLS:C1868864
is_a: HP:0010944 ! Abnormal renal pelvis morphology
created_by: peter
creation_date: 2011-01-16T03:39:20Z

[Term]
id: HP:0010947
name: Abnormality of ductus venosus blood flow
def: "A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus." [HPO:probinson, pmid:16449256, pmid:21048453]
comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave.
xref: UMLS:C4023632
is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system
created_by: peter
creation_date: 2011-01-16T03:50:45Z

[Term]
id: HP:0010948
name: Abnormality of the fetal cardiovascular system
def: "An abnormality of the fetal circulation system or fetal echocardiogram." [DDD:dbrown, HPO:probinson]
synonym: "Abnormality of the fetal circulation system" EXACT []
xref: UMLS:C4021210
is_a: HP:0001626 ! Abnormality of the cardiovascular system
created_by: peter
creation_date: 2011-01-16T03:53:44Z

[Term]
id: HP:0010949
name: Abnormality of umbilical vein blood flow
def: "A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein." [HPO:probinson]
comment: Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus.
xref: UMLS:C4023631
is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system
is_a: HP:0011403 ! Abnormal umbilical cord blood vessels
created_by: peter
creation_date: 2011-01-16T04:15:43Z

[Term]
id: HP:0010950
name: Abnormality of the fourth ventricle
def: "An abnormality of the fourth ventricle." [HPO:probinson]
comment: The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata.
xref: UMLS:C4023630
is_a: HP:0002118 ! Abnormality of the cerebral ventricles
created_by: peter
creation_date: 2011-01-17T12:58:00Z

[Term]
id: HP:0010951
name: Abnormality of the third ventricle
def: "An abnormality of the third ventricle." [HPO:probinson]
comment: The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles.
xref: UMLS:C4023629
is_a: HP:0002118 ! Abnormality of the cerebral ventricles
created_by: peter
creation_date: 2011-01-17T01:00:31Z

[Term]
id: HP:0010952
name: Mild fetal ventriculomegaly
def: "A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (pmid:16100637)." [HPO:probinson, pmid:16100637]
comment: A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue.
xref: UMLS:C4023628
is_a: HP:0002119 ! Ventriculomegaly
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2011-01-17T01:36:57Z

[Term]
id: HP:0010953
name: Noncommunicating hydrocephalus
def: "A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed." [eMedicine:1135286, HPO:probinson]
comment: The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy.
xref: MSH:D006849
xref: SNOMEDCT_US:230746009
xref: SNOMEDCT_US:82346000
xref: UMLS:C0549423
is_a: HP:0000238 ! Hydrocephalus
created_by: peter
creation_date: 2011-01-17T02:22:26Z

[Term]
id: HP:0010954
name: Hypoplastic right heart
def: "Underdevelopment of the right-sided structures of the heart." [HPO:probinson]
comment: Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill.
synonym: "Hypoplastic right heart syndrome" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Underdeveloped right heart" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:268180007
xref: SNOMEDCT_US:39589002
xref: UMLS:C0265856
xref: UMLS:C0344963
is_a: HP:0001961 ! Hypoplastic heart
is_a: HP:0011723 ! Congenital malformation of the right heart
created_by: peter
creation_date: 2011-01-17T03:31:37Z

[Term]
id: HP:0010955
name: Dilatation of the bladder
def: "The presence of a dilated urinary bladder." [HPO:probinson]
xref: UMLS:C0549253
is_a: HP:0025487 ! Abnormality of bladder morphology
created_by: peter
creation_date: 2011-01-18T10:42:26Z

[Term]
id: HP:0010956
name: Fetal megacystis
def: "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age." [HPO:probinson, pmid:20837325]
comment: Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction.
xref: MSH:C536139
xref: UMLS:C2931117
is_a: HP:0010955 ! Dilatation of the bladder
created_by: peter
creation_date: 2011-01-18T10:43:58Z

[Term]
id: HP:0010957
name: Congenital posterior urethral valve
def: "A developmental defect resulting in an obstructing membrane in the posterior male urethra." [eMedicine:1016086, HPO:probinson]
comment: Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi).
synonym: "Posterior urethral valve" EXACT []
synonym: "Posterior urethral valves" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:253900005
xref: UMLS:C0238506
is_a: HP:0010481 ! Urethral valve
created_by: peter
creation_date: 2011-01-18T10:51:22Z

[Term]
id: HP:0010958
name: Bilateral renal agenesis
def: "A bilateral form of agenesis of the kidney." [HPO:probinson]
xref: MSH:C536482
xref: SNOMEDCT_US:41962002
xref: UMLS:C1609433
is_a: HP:0000104 ! Renal agenesis
created_by: peter
creation_date: 2011-01-18T11:42:58Z

[Term]
id: HP:0010959
name: Congenital cystic adenomatoid malformation of the lung
alt_id: HP:0006540
alt_id: HP:0006545
def: "Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis." [HPO:probinson]
comment: Congenital cystic adenomatoid malformation (CCAM) results in a multicystic mass that replaces the normal lung structure. CCAM is usually unilateral and confined to a single lobe of the lung.
synonym: "CCAM" EXACT HP:0045077 []
synonym: "Congenital cystic disease of the lung" EXACT []
synonym: "Cystic adenomatoid lung disease" EXACT []
xref: MSH:D015615
xref: SNOMEDCT_US:111318005
xref: UMLS:C0010668
is_a: HP:0005948 ! Multiple pulmonary cysts
created_by: peter
creation_date: 2011-01-18T11:56:02Z

[Term]
id: HP:0010960
name: Bronchopulmonary sequestration
def: "The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree." [HPO:probinson, pmid:20610189]
comment: Typically, the lung tissue in BPS receives all or most of its blood supply from an anomalous systemic artery, with the origin of this artery being variable.
xref: MSH:D001998
xref: SNOMEDCT_US:18620009
xref: UMLS:C0006288
is_a: HP:0002088 ! Abnormal lung morphology
created_by: peter
creation_date: 2011-01-18T12:28:51Z

[Term]
id: HP:0010961
name: Intralobar sequestration
def: "A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung." [HPO:probinson, pmid:20610189]
comment: Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung.
xref: UMLS:C4023627
is_a: HP:0010960 ! Bronchopulmonary sequestration
created_by: peter
creation_date: 2011-01-18T12:34:14Z

[Term]
id: HP:0010962
name: Extralobar sequestration
def: "A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura." [HPO:probinson, pmid:20610189]
comment: Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure.
xref: UMLS:C4023626
is_a: HP:0010960 ! Bronchopulmonary sequestration
created_by: peter
creation_date: 2011-01-18T12:36:55Z

[Term]
id: HP:0010963
name: Absence of stomach bubble on fetal sonography
def: "By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation." [HPO:probinson]
comment: The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios.
xref: UMLS:C4023625
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2011-01-18T12:45:41Z

[Term]
id: HP:0010964
name: Abnormal circulating long-chain fatty-acid concentration
def: "Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation." [HPO:probinson]
comment: A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18.
xref: UMLS:C4023624
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
created_by: peter
creation_date: 2011-01-27T08:05:00Z

[Term]
id: HP:0010965
name: Abnormal circulating phytanic acid level
def: "Any deviation from the normal concentration of phytanic acid in the blood circulation." [HPO:probinson]
comment: Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15.
xref: UMLS:C4023623
is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration
created_by: peter
creation_date: 2011-01-27T08:07:48Z

[Term]
id: HP:0010966
name: Abnormal circulating fatty-acid anion concentration
def: "Any deviation from the normal concentration of a fatty acid anion in the blood circulation." [HPO:probinson]
comment: A fatty acid anion is the conjugate base of a fatty acid.
synonym: "Abnormality of fatty acid anion" EXACT []
xref: UMLS:C4021209
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
created_by: peter
creation_date: 2011-01-27T09:17:48Z

[Term]
id: HP:0010967
name: Abnormal circulating carnitine concentration
def: "Any deviation from the normal concentration of carnitine in the blood circulation." [HPO:gcarletti]
comment: L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation.
synonym: "Carnitine levels abnormal" RELATED []
xref: UMLS:C4020761
xref: UMLS:C4021855
is_a: HP:0010966 ! Abnormal circulating fatty-acid anion concentration
created_by: peter
creation_date: 2011-01-27T09:19:42Z

[Term]
id: HP:0010968
name: Abnormality of liposaccharide metabolism
def: "An abnormality of liposaccharide metabolism." [HPO:probinson]
xref: UMLS:C4023622
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
created_by: peter
creation_date: 2011-01-27T09:22:56Z

[Term]
id: HP:0010969
name: Abnormality of glycolipid metabolism
def: "An abnormality of glycolipid metabolism." [HPO:probinson]
xref: UMLS:C4023621
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
created_by: peter
creation_date: 2011-01-27T09:25:31Z

[Term]
id: HP:0010970
name: Blood group antigen abnormality
def: "An abnormality of an erythrocyte cell surface molecule." [HPO:probinson]
comment: During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them.
xref: UMLS:C4023620
is_a: HP:0001877 ! Abnormal erythrocyte morphology
created_by: peter
creation_date: 2011-02-06T12:37:33Z

[Term]
id: HP:0010971
name: Absence of Lutheran antigen on erythrocytes
def: "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells." [HPO:probinson]
xref: UMLS:C4023619
is_a: HP:0010970 ! Blood group antigen abnormality
created_by: peter
creation_date: 2011-02-06T12:40:21Z

[Term]
id: HP:0010972
name: Anemia of inadequate production
alt_id: HP:0005501
alt_id: HP:0005504
alt_id: HP:0005553
def: "A kind of anemia characterized by inadequate production of erythrocytes." [HPO:probinson]
synonym: "Anemia, dyserythropoietic" EXACT []
synonym: "Defective erythropoiesis" EXACT []
synonym: "Dyserythropoietic anemia" EXACT []
synonym: "Ineffective erythropoiesis" EXACT []
xref: SNOMEDCT_US:70730006
xref: UMLS:C0392708
xref: UMLS:C0678199
is_a: HP:0001903 ! Anemia
created_by: peter
creation_date: 2011-02-06T02:24:54Z

[Term]
id: HP:0010974
name: Abnormal myeloid leukocyte morphology
def: "An abnormality of myeloid leukocytes." [HPO:probinson]
comment: A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage.
synonym: "Abnormality of myeloid leukocytes" EXACT []
xref: UMLS:C4023618
is_a: HP:0001881 ! Abnormal leukocyte morphology
created_by: peter
creation_date: 2011-02-06T09:24:46Z

[Term]
id: HP:0010975
name: Abnormal B cell count
def: "A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells." [HPO:probinson, MP:0002458]
synonym: "Abnormal number of B cells" EXACT [HPO:skoehler]
synonym: "Abnormal numbers of B cells" EXACT [HPO:skoehler]
synonym: "Abnormality of B cell count" EXACT []
synonym: "Abnormality of B cell numbers" EXACT []
xref: UMLS:C4021208
is_a: HP:0002846 ! Abnormal B cell morphology
is_a: HP:0040088 ! Abnormal lymphocyte count
created_by: peter
creation_date: 2011-02-06T09:38:18Z

[Term]
id: HP:0010976
name: B lymphocytopenia
alt_id: HP:0002956
def: "An abnormal decrease from the normal count of B cells." [HPO:probinson]
comment: Plasma B cells differentiate from B cells and secrete large amounts of antibodies.
synonym: "B cell lymphopenia" EXACT []
synonym: "Low B cell count" EXACT layperson []
synonym: "Reduction in B cell number" EXACT []
xref: UMLS:C1855067
is_a: HP:0001888 ! Lymphopenia
created_by: peter
creation_date: 2011-02-06T09:44:11Z

[Term]
id: HP:0010977
name: Abnormal phagocytosis
def: "An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation." [HPO:probinson, PMID:28691037]
xref: UMLS:C4023617
is_a: HP:0010978 ! Abnormality of immune system physiology
created_by: peter
creation_date: 2011-02-06T10:31:46Z

[Term]
id: HP:0010978
name: Abnormality of immune system physiology
def: "A functional abnormality of the immune system." [HPO:probinson, MP:0001790]
xref: UMLS:C4023616
is_a: HP:0002715 ! Abnormality of the immune system
created_by: peter
creation_date: 2011-02-07T04:28:55Z

[Term]
id: HP:0010979
name: Abnormality of lipoprotein cholesterol concentration
def: "An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood." [HPO:probinson]
comment: Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL.
synonym: "Abnormality of the level of lipoprotein cholesterol" EXACT []
xref: UMLS:C4023615
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration
created_by: peter
creation_date: 2011-02-07T09:47:29Z

[Term]
id: HP:0010980
name: Hyperlipoproteinemia
def: "An abnormal increase in the level of lipoprotein cholesterol in the blood." [HPO:probinson]
xref: MSH:D006951
xref: SNOMEDCT_US:3744001
xref: UMLS:C0020476
is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration
created_by: peter
creation_date: 2011-02-07T10:56:30Z

[Term]
id: HP:0010981
name: Hypolipoproteinemia
def: "An abnormal decrease in the level of lipoprotein cholesterol in the blood." [HPO:proteinemia]
synonym: "Lack of fat in blood" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D007009
xref: SNOMEDCT_US:267436001
xref: SNOMEDCT_US:363140000
xref: UMLS:C0020623
is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration
created_by: peter
creation_date: 2011-02-07T11:01:50Z

[Term]
id: HP:0010982
name: Polygenic inheritance
def: "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961]
xref: MSH:D020412
xref: UMLS:C1148552
is_a: HP:0001426 ! Multifactorial inheritance
created_by: peter
creation_date: 2011-02-08T10:12:39Z

[Term]
id: HP:0010983
name: Oligogenic inheritance
def: "A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform." [HPO:probinson, ISBN:978-0192628961]
xref: MSH:D020412
xref: UMLS:C1136026
is_a: HP:0001426 ! Multifactorial inheritance
created_by: peter
creation_date: 2011-02-08T10:13:16Z

[Term]
id: HP:0010984
name: Digenic inheritance
def: "A type of multifactorial inheritance governed by the simultaneous action of two gene loci." [HPO:probinson, ISBN:978-0192628961]
xref: UMLS:C4023614
is_a: HP:0001426 ! Multifactorial inheritance
created_by: peter
creation_date: 2011-02-08T10:13:54Z

[Term]
id: HP:0010985
name: Gonosomal inheritance
def: "A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes." [HPO:probinson]
xref: UMLS:C4023613
is_a: HP:0000005 ! Mode of inheritance
created_by: peter
creation_date: 2011-02-08T10:16:28Z

[Term]
id: HP:0010987
name: Abnormal cellular immune system morphology
def: "An abnormality of the morphology or counts of the cells that make up the immune system." [HPO:probinson]
xref: UMLS:C4023612
is_a: HP:0032251 ! Abnormal immune system morphology
created_by: peter
creation_date: 2011-02-08T12:49:47Z

[Term]
id: HP:0010988
name: Abnormality of the extrinsic pathway
def: "An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade." [HPO:probinson]
comment: The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X.
xref: UMLS:C4023611
is_a: HP:0003256 ! Abnormality of the coagulation cascade
created_by: peter
creation_date: 2011-02-08T01:59:22Z

[Term]
id: HP:0010989
name: Abnormality of the intrinsic pathway
def: "An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade." [HPO:probinson]
comment: The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets.
xref: UMLS:C4023610
is_a: HP:0003256 ! Abnormality of the coagulation cascade
created_by: peter
creation_date: 2011-02-08T04:26:55Z

[Term]
id: HP:0010990
name: Abnormality of the common coagulation pathway
def: "An abnormality of blood coagulation, common pathway." [HPO:probinson]
comment: The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex.
xref: UMLS:C4023609
is_a: HP:0003256 ! Abnormality of the coagulation cascade
created_by: peter
creation_date: 2011-02-08T04:31:53Z

[Term]
id: HP:0010991
name: Abnormality of the abdominal musculature
def: "An abnormality of the abdominal musculature." [HPO:probinson]
xref: UMLS:C4023608
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0004298 ! Abnormality of the abdominal wall
created_by: peter
creation_date: 2011-02-09T08:05:11Z

[Term]
id: HP:0010992
name: Stress urinary incontinence
def: "Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing." [HPO:probinson, pmid:12559262]
xref: MSH:D014550
xref: SNOMEDCT_US:22220005
xref: UMLS:C0042025
is_a: HP:0000020 ! Urinary incontinence
created_by: peter
creation_date: 2011-02-09T12:13:46Z

[Term]
id: HP:0010993
name: Abnormality of the cerebral subcortex
def: "An abnormality of the cerebral subcortex." [HPO:probinson]
comment: The cerebral subcortex contains the basal ganglia and the cerebral white matter.
synonym: "Abnormality of the cerebral medulla" EXACT []
xref: UMLS:C4021207
is_a: HP:0002060 ! Abnormality of the cerebrum
created_by: peter
creation_date: 2011-02-09T10:32:54Z

[Term]
id: HP:0010994
name: Abnormal corpus striatum morphology
def: "Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens." [HPO:probinson, PMID:21469956]
comment: The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei.
synonym: "Abnormality of the neostriatum" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Abnormality of the striate nucleus" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Abnormality of the striatum" EXACT []
xref: UMLS:C4023607
is_a: HP:0002134 ! Abnormality of the basal ganglia
created_by: peter
creation_date: 2011-02-10T08:31:42Z

[Term]
id: HP:0010995
name: Abnormal circulating dicarboxylic acid concentration
def: "Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation." [HPO:probinson]
comment: A dicarboxylic acid is an oxoacid containing two carboxy groups.
xref: UMLS:C4023606
is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration
created_by: peter
creation_date: 2011-02-10T02:01:02Z

[Term]
id: HP:0010996
name: Abnormal circulating monocarboxylic acid cocentration
def: "Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation." [HPO:gcarletti]
xref: UMLS:C4023605
is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration
created_by: peter
creation_date: 2011-02-10T02:20:42Z

[Term]
id: HP:0010997
name: Chromosomal breakage induced by ionizing radiation
def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation." [HPO:sdoelken, pmid:16814619]
comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome.
synonym: "Increased cellular radiosensitivity" EXACT []
synonym: "Radiation-induced chromosome instability" EXACT []
xref: UMLS:C4021206
is_a: HP:0040012 ! Chromosome breakage
created_by: peter
creation_date: 2011-02-10T06:10:33Z

[Term]
id: HP:0010998
name: Increased susceptibility to spontaneous sister chromatid exchange
def: "An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells." [HPO:sdoelken]
comment: Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome.
xref: UMLS:C4023604
is_a: HP:0003220 ! Abnormality of chromosome stability
created_by: peter
creation_date: 2011-02-10T06:14:16Z

[Term]
id: HP:0010999
is_anonymous: true
name: Aplasia of the optic tract
synonym: "Absent optic tract" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023603
is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract
created_by: sdoelken
creation_date: 2011-02-13T11:28:03Z

[Term]
id: HP:0011000
name: Aplasia/Hypoplasia of the optic tract
synonym: "Absent/small optic tract" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent/underdeveloped optic tract" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023602
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
created_by: sdoelken
creation_date: 2011-02-13T11:28:43Z

[Term]
id: HP:0011001
name: Increased bone mineral density
alt_id: HP:0002796
alt_id: HP:0004350
alt_id: HP:0005711
alt_id: HP:0005741
alt_id: HP:0010738
def: "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:probinson]
comment: This term may be merged with Increased bone density in the future or made obsolete.
synonym: "Increased bone density" EXACT layperson []
synonym: "Increased bone mineral density" EXACT layperson []
synonym: "Osteosclerosis" EXACT []
synonym: "Osteosclerosis of bones" EXACT []
xref: MSH:D010026
xref: SNOMEDCT_US:49347007
xref: UMLS:C0029464
is_a: HP:0004348 ! Abnormality of bone mineral density
created_by: sdoelken
creation_date: 2011-02-13T11:57:32Z

[Term]
id: HP:0011002
name: Osteopetrosis
def: "Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal." [HPO:probinson]
synonym: "Albers-Schoenberg disease" RELATED []
synonym: "Albers-Schonberg disease" RELATED []
synonym: "Albers-Schönberg disease" RELATED []
synonym: "Harder, denser, fracture-prone bones" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Marble bone disease" RELATED []
xref: MSH:D010022
xref: SNOMEDCT_US:1926006
xref: SNOMEDCT_US:367489004
xref: UMLS:C0029454
is_a: HP:0011001 ! Increased bone mineral density
created_by: sdoelken
creation_date: 2011-02-13T11:58:36Z

[Term]
id: HP:0011003
name: High myopia
alt_id: HP:0000569
def: "A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter]
subset: hposlim_core
synonym: "Severe myopia" EXACT []
synonym: "Severe myopia (> -6.00 diopters)" EXACT []
synonym: "Severe near sightedness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Severely close sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Severely near sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:34187009
xref: UMLS:C0271183
is_a: HP:0000545 ! Myopia
created_by: sdoelken
creation_date: 2011-02-13T12:56:48Z

[Term]
id: HP:0011004
name: Abnormal systemic arterial morphology
alt_id: HP:0002620
alt_id: HP:0005114
def: "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries." [HPO:probinson]
synonym: "Abnormal systemic artery morphology" EXACT []
synonym: "Abnormality of the systemic arterial tree" EXACT []
synonym: "Arterial abnormalities" RELATED []
synonym: "Systemic artery abnormality" EXACT []
xref: Fyler:2600
xref: SNOMEDCT_US:234119001
xref: UMLS:C0151489
xref: UMLS:C4021205
is_a: HP:0025015 ! Abnormal vascular morphology
created_by: peter
creation_date: 2011-02-16T08:46:49Z

[Term]
id: HP:0011005
name: Mixed cirrhosis
def: "A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes." [HPO:probinson]
comment: In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size.
xref: UMLS:C1392669
is_a: HP:0001394 ! Cirrhosis
created_by: peter
creation_date: 2011-02-17T09:01:14Z

[Term]
id: HP:0011006
name: Abnormality of the musculature of the neck
def: "An abnormality of the neck musculature." [HPO:probinson]
synonym: "Abnormality of cervical musculature" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the musculature of the neck" EXACT layperson []
synonym: "Neck muscle issue" EXACT layperson []
xref: UMLS:C4023601
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0003011 ! Abnormality of the musculature
created_by: peter
creation_date: 2011-02-19T11:15:01Z

[Term]
id: HP:0011008
name: Temporal pattern
def: "The speed at which disease manifestations appear and develop." [HPO:probinson]
synonym: "Speed of onset" EXACT []
xref: UMLS:C4021204
is_a: HP:0031797 ! Clinical course
created_by: peter
creation_date: 2011-02-20T10:22:32Z

[Term]
id: HP:0011009
name: Acute
def: "Sudden appearance of disease manifestations over a short period of time." [HPO:probinson]
comment: The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days.
synonym: "Acute onset" EXACT []
xref: SNOMEDCT_US:272118002
xref: UMLS:C0205178
is_a: HP:0011008 ! Temporal pattern
created_by: peter
creation_date: 2011-02-20T10:23:18Z

[Term]
id: HP:0011010
name: Chronic
def: "Slow, creeping onset, slow progress and long continuance of disease manifestations." [HPO:probinson]
comment: According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more.
synonym: "Chronic" EXACT layperson []
xref: SNOMEDCT_US:90734009
xref: UMLS:C0205191
is_a: HP:0011008 ! Temporal pattern
created_by: peter
creation_date: 2011-02-20T10:25:55Z

[Term]
id: HP:0011011
name: Subacute
def: "Somewhat rapid onset and change of disease manifestations." [HPO:probinson]
comment: Subacute is between acute and chronic.
xref: SNOMEDCT_US:19939008
xref: UMLS:C0205365
is_a: HP:0011008 ! Temporal pattern
created_by: peter
creation_date: 2011-02-20T10:27:54Z

[Term]
id: HP:0011012
name: Abnormal circulating polysaccharide concentration
def: "A deviation from the normal concentration of a polysaccharide in the blood circulation." [HPO:probinson]
xref: UMLS:C4023600
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
created_by: peter
creation_date: 2011-02-21T09:46:11Z

[Term]
id: HP:0011013
name: Abnormal circulating carbohydrate concentration
def: "A deviation from the normal concentration of a carbohydrate in the blood circulation." [HPO:probinson]
comment: An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them.
xref: UMLS:C4023599
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
created_by: peter
creation_date: 2011-02-21T09:47:27Z

[Term]
id: HP:0011014
name: Abnormal glucose homeostasis
def: "Abnormality of glucose homeostasis." [HPO:probinson]
comment: An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
xref: UMLS:C4023598
is_a: HP:0012337 ! Abnormal homeostasis
created_by: peter
creation_date: 2011-02-21T10:37:21Z

[Term]
id: HP:0011015
name: Abnormal blood glucose concentration
def: "An abnormality of the concentration of glucose in the blood." [HPO:probinson]
synonym: "Abnormality of blood glucose concentration" EXACT []
xref: UMLS:C4023597
is_a: HP:0011014 ! Abnormal glucose homeostasis
created_by: peter
creation_date: 2011-02-21T10:41:13Z

[Term]
id: HP:0011016
name: Abnormality of urine glucose concentration
def: "An abnormality of the concentration of glucose in the urine." [HPO:gcarletti]
xref: UMLS:C4023596
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2011-02-21T11:09:32Z

[Term]
id: HP:0011017
name: Abnormal cellular physiology
alt_id: HP:0025462
def: "An abnormality in a cellular process." [HPO:probinson]
synonym: "Abnormality of cell physiology" EXACT []
xref: UMLS:C4023595
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
is_a: HP:0025354 ! Abnormal cellular phenotype
created_by: peter
creation_date: 2011-02-22T07:05:50Z

[Term]
id: HP:0011018
name: Abnormality of the cell cycle
def: "An abnormality of the cell cycle." [HPO:probinson]
synonym: "Abnormality of the cell cycle" EXACT layperson []
xref: UMLS:C4023594
is_a: HP:0011017 ! Abnormal cellular physiology
created_by: peter
creation_date: 2011-02-22T07:09:31Z

[Term]
id: HP:0011019
name: Abnormality of chromosome condensation
def: "An abnormality of chromosome condensation." [HPO:probinson]
xref: UMLS:C4023593
is_a: HP:0011017 ! Abnormal cellular physiology
created_by: peter
creation_date: 2011-02-22T07:19:30Z

[Term]
id: HP:0011020
name: Abnormality of mucopolysaccharide metabolism
def: "An abnormality of the metabolism of mucopolysaccharide." [HPO:probinson]
xref: UMLS:C4023592
is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism
created_by: peter
creation_date: 2011-02-23T07:58:02Z

[Term]
id: HP:0011021
name: Abnormality of circulating enzyme level
xref: UMLS:C4023591
is_a: HP:0010876 ! Abnormal circulating protein level
created_by: peter
creation_date: 2011-02-28T08:46:34Z

[Term]
id: HP:0011022
name: Abnormal circulating unsaturated fatty acid concentration
def: "A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation." [HPO:probinson]
xref: UMLS:C4023590
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
created_by: peter
creation_date: 2011-02-28T09:04:58Z

[Term]
id: HP:0011023
name: Abnormal circulating prostaglandin circulation
def: "Any deviation from the normal concentration of a prostaglandin in the blood circulation." [HPO:probinson]
xref: UMLS:C4023589
is_a: HP:0030361 ! Abnormal circulating eicosanoid concentration
created_by: peter
creation_date: 2011-02-28T09:19:20Z

[Term]
id: HP:0011024
name: Abnormality of the gastrointestinal tract
def: "An abnormality of the gastrointestinal tract." [HPO:probinson]
synonym: "Abnormality of the gastrointestinal tract" EXACT layperson []
synonym: "Abnormality of the GI tract" EXACT HP:0045077 []
synonym: "Digestive system disease" RELATED layperson []
synonym: "Gastrointestinal disease" RELATED layperson []
xref: MSH:D004066
xref: MSH:D005767
xref: SNOMEDCT_US:119292006
xref: SNOMEDCT_US:25374005
xref: SNOMEDCT_US:53619000
xref: UMLS:C0012242
xref: UMLS:C0017178
xref: UMLS:C4023588
is_a: HP:0025031 ! Abnormality of the digestive system
created_by: peter
creation_date: 2011-03-01T07:52:06Z

[Term]
id: HP:0011025
name: Abnormal cardiovascular system physiology
def: "Abnormal functionality of the cardiovascular system." [HPO:probinson]
synonym: "Abnormality of cardiovascular system physiology" EXACT []
xref: UMLS:C4023587
is_a: HP:0001626 ! Abnormality of the cardiovascular system
created_by: peter
creation_date: 2011-03-03T10:23:19Z

[Term]
id: HP:0011026
name: Aplasia/Hypoplasia of the vagina
def: "Aplasia or developmental hypoplasia of the vagina." [HPO:probinson]
synonym: "Absent/small vagina" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped vagina" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023586
is_a: HP:0000142 ! Abnormal vagina morphology
created_by: peter
creation_date: 2011-03-02T06:17:46Z

[Term]
id: HP:0011027
name: Abnormality of the fallopian tube
def: "An abnormality of the fallopian tube." [HPO:probinson]
comment: The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus.
xref: UMLS:C0281842
is_a: HP:0000008 ! Abnormality of female internal genitalia
created_by: peter
creation_date: 2011-03-02T06:36:01Z

[Term]
id: HP:0011028
name: Abnormality of blood circulation
def: "An abnormality of blood circulation." [HPO:probinson]
synonym: "Blood circulation disorder" RELATED []
xref: UMLS:C4020760
xref: UMLS:C4023585
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
created_by: peter
creation_date: 2011-03-03T10:25:21Z

[Term]
id: HP:0011029
name: Internal hemorrhage
def: "The presence of hemorrhage within the body." [HPO:probinson]
synonym: "Internal bleeding" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1390214
is_a: HP:0001892 ! Abnormal bleeding
is_a: HP:0011028 ! Abnormality of blood circulation
created_by: peter
creation_date: 2011-03-03T10:26:26Z

[Term]
id: HP:0011030
name: Abnormal blood transition element cation concentration
def: "An abnormality of the homeostasis (concentration) of transition element cation." [HPO:probinson]
synonym: "Abnormality of transition element cation homeostasis" EXACT []
xref: UMLS:C4023584
is_a: HP:0010929 ! Abnormal blood cation concentration
created_by: peter
creation_date: 2011-03-04T07:59:31Z

[Term]
id: HP:0011031
name: Abnormality of iron homeostasis
def: "An abnormality of the homeostasis (concentration) of iron cation." [HPO:probinson]
xref: UMLS:C4023583
is_a: HP:0011030 ! Abnormal blood transition element cation concentration
created_by: peter
creation_date: 2011-03-04T08:01:07Z

[Term]
id: HP:0011032
name: Abnormality of fluid regulation
def: "An abnormality of the regulation of body fluids." [HPO:probinson]
synonym: "Abnormality of fluid regulation" EXACT layperson []
synonym: "Fluid imbalance" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:1860003
xref: SNOMEDCT_US:190902006
xref: UMLS:C2364164
is_a: HP:0012337 ! Abnormal homeostasis
created_by: peter
creation_date: 2011-03-05T09:09:27Z

[Term]
id: HP:0011033
name: Impairment of fructose metabolism
def: "An impairment of a fructose metabolic process." [HPO:probinson]
xref: UMLS:C4023581
is_a: HP:0032245 ! Abnormal metabolism
created_by: peter
creation_date: 2011-03-05T10:06:29Z

[Term]
id: HP:0011034
name: Amyloidosis
def: "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body." [HPO:probinson, pmid:21039326]
comment: The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy.
synonym: "Amyloid disease" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D000686
xref: SNOMEDCT_US:17602002
xref: UMLS:C0002726
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
created_by: peter
creation_date: 2011-03-06T10:56:39Z

[Term]
id: HP:0011035
name: Abnormal renal cortex morphology
def: "An abnormality of the cortex of the kidney." [HPO:probinson]
synonym: "Abnormality of renal cortex morphology" EXACT []
xref: UMLS:C4023580
is_a: HP:0012210 ! Abnormal renal morphology
created_by: peter
creation_date: 2011-03-06T11:31:39Z

[Term]
id: HP:0011036
name: Abnormality of renal excretion
def: "An altered ability of the kidneys to void urine and/or specific substances." [HPO:probinson]
xref: MP:0005555
xref: UMLS:C4023579
is_a: HP:0012211 ! Abnormal renal physiology
created_by: peter
creation_date: 2011-03-06T12:28:55Z

[Term]
id: HP:0011037
name: Decreased urine output
def: "A decreased rate of urine production." [HPO:probinson]
comment: A reduction in the overall amount of urine output.
xref: UMLS:C3887784
is_a: HP:0012590 ! Abnormal urine output
created_by: peter
creation_date: 2011-03-06T12:33:12Z

[Term]
id: HP:0011038
name: Abnormality of renal resorption
def: "An abnormality of renal absorption." [HPO:probinson]
xref: UMLS:C4023578
is_a: HP:0012211 ! Abnormal renal physiology
created_by: peter
creation_date: 2011-03-06T12:38:04Z

[Term]
id: HP:0011039
name: Abnormality of the helix
alt_id: HP:0000380
def: "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal helices" EXACT []
synonym: "Helix abnormal" EXACT []
xref: UMLS:C1856660
is_a: HP:0000377 ! Abnormality of the pinna
created_by: peter
creation_date: 2011-03-06T04:41:34Z

[Term]
id: HP:0011040
name: Abnormality of the intrahepatic bile duct
def: "An abnormality of the intrahepatic bile duct." [HPO:probinson]
xref: UMLS:C4023577
is_a: HP:0012440 ! Abnormal biliary tract morphology
created_by: peter
creation_date: 2011-03-07T07:54:11Z

[Term]
id: HP:0011041
name: Aplasia/Hypoplasia of the cervical spine
def: "Aplasia or developmental hypoplasia of the cervical vertebral column." [HPO:probinson]
synonym: "Absent/small cervical spine" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped cervical spine" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023576
is_a: HP:0003319 ! Abnormality of the cervical spine
is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column
created_by: peter
creation_date: 2011-03-09T08:29:34Z

[Term]
id: HP:0011042
name: Abnormal blood potassium concentration
def: "An abnormal concentration of potassium." [HPO:probinson]
synonym: "Abnormal blood K concentration" EXACT HP:0045077 []
synonym: "Abnormality of potassium homeostasis" EXACT []
xref: UMLS:C4023575
is_a: HP:0010930 ! Abnormal blood monovalent inorganic cation concentration
created_by: peter
creation_date: 2011-03-09T11:00:32Z

[Term]
id: HP:0011043
name: Abnormality of circulating adrenocorticotropin level
def: "An abnormal concentration of corticotropin in the blood." [HPO:probinson]
comment: Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex.
xref: UMLS:C4023574
is_a: HP:0003117 ! Abnormal circulating hormone level
created_by: peter
creation_date: 2011-03-10T07:46:59Z

[Term]
id: HP:0011044
name: Abnormal number of permanent teeth
def: "The presence of an altered number of of permanent teeth." [HPO:ibailleulforestier]
synonym: "Abnormal complement of permanent teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal number of adult teeth" EXACT layperson []
synonym: "Abnormal number of permanent teeth" EXACT layperson []
synonym: "Abnormal number of secondary dentition" EXACT []
synonym: "Abnormal permanent tooth count" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023573
is_a: HP:0006483 ! Abnormal number of teeth
created_by: peter
creation_date: 2011-03-10T10:43:37Z

[Term]
id: HP:0011045
name: Agenesis of permanent maxillary central incisor
def: "Agenesis of upper secondary incisor." [HPO:ibailleulforestier]
comment: This feature is to be distinguished from single central upper incisor, which is median.
synonym: "Absence of permanent maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of permanent upper central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of permanent upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of adult maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of permanent maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing adult upper central incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent upper central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023572
xref: UMLS:C4280358
xref: UMLS:C4280359
is_a: HP:0006293 ! Agenesis of maxillary central incisor
created_by: peter
creation_date: 2011-03-10T11:20:25Z

[Term]
id: HP:0011046
name: Agenesis of primary maxillary central incisor
def: "Agenesis of upper central primary incisor." [HPO:ibailleulforestier]
comment: This feature is to be distinguished from single central upper incisor, which is median.
synonym: "Absence of deciduous maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of primary maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of upper front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of deciduous maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of deciduous maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of primary maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing deciduous maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing primary maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing upper front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing upper front milk tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023571
xref: UMLS:C4280357
is_a: HP:0006293 ! Agenesis of maxillary central incisor
created_by: peter
creation_date: 2011-03-10T11:21:41Z

[Term]
id: HP:0011047
name: Agenesis of primary mandibular central incisor
def: "Agenesis of lower primary incisor." [HPO:ibailleulforestier]
synonym: "Absence of deciduous mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of primary mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of deciduous lower central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of primary lower central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of deciduous mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of primary mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing deciduous mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing lower central incisor milk tooth" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing lower front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing lower front milk tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing lower front primary tooth" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing primary mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023570
xref: UMLS:C4280355
xref: UMLS:C4280356
is_a: HP:0006355 ! Agenesis of mandibular central incisor
created_by: peter
creation_date: 2011-03-10T11:14:55Z

[Term]
id: HP:0011048
name: Agenesis of permanent mandibular central incisor
def: "Agenesis of lower secondary incisor." [HPO:ibailleulforestier]
synonym: "Absence of permanent lower central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of permanent lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of permanent mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of adult mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of permanent mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing adult lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent lower central incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023569
xref: UMLS:C4280354
is_a: HP:0006355 ! Agenesis of mandibular central incisor
created_by: peter
creation_date: 2011-03-10T11:16:08Z

[Term]
id: HP:0011049
name: Agenesis of primary maxillary lateral incisor
def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor." [HPO:ibailleulforestier]
synonym: "Absence of deciduous maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of primary maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of deciduous maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of deciduous maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of primary maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing deciduous maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing primary maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023568
xref: UMLS:C4280353
is_a: HP:0000690 ! Agenesis of maxillary lateral incisor
created_by: peter
creation_date: 2011-03-10T11:31:10Z

[Term]
id: HP:0011050
name: Agenesis of permanent maxillary lateral incisor
def: "Agenesis of one or more upper lateral secondary incisor." [HPO:ibailleulforestier]
synonym: "Absence of permanent maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of permanent upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of permanent maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of permanent upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent upper lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023567
xref: UMLS:C4280352
is_a: HP:0000690 ! Agenesis of maxillary lateral incisor
created_by: peter
creation_date: 2011-03-10T11:32:17Z

[Term]
id: HP:0011051
name: Agenesis of premolar
def: "Agenesis of premolar tooth." [HPO:ibailleulforestier]
comment: Note that premolar teeth occur only in the permanent dentition.
synonym: "Absence of bicuspid" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of premolar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of bicuspid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of bicuspid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of premolar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing bicuspid" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing premolar" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023566
xref: UMLS:C4280351
is_a: HP:0001592 ! Selective tooth agenesis
is_a: HP:0011076 ! Abnormality of premolar
created_by: peter
creation_date: 2011-03-10T11:36:44Z

[Term]
id: HP:0011052
name: Agenesis of maxillary premolar
def: "Agenesis of maxillary premolar." [HPO:ibailleulforestier]
comment: Note that premolar teeth occur only in the permanent dentition.
synonym: "Absence of maxillary bicuspid" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of maxillary premolar" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of upper premolar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of maxillary bicuspid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of maxillary bicuspid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of maxillary premolar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing maxillary premolar" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing upper bicuspid" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing upper premolar" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023565
xref: UMLS:C4280350
is_a: HP:0011051 ! Agenesis of premolar
created_by: peter
creation_date: 2011-03-10T11:39:06Z

[Term]
id: HP:0011053
name: Agenesis of mandibular premolar
def: "Agenesis of mandibular premolar." [HPO:ibailleulforestier]
synonym: "Absence of lower premolar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of mandibular premolar" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of mandibular premolar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing lower premolar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing mandibular premolar" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023564
xref: UMLS:C4280349
is_a: HP:0011051 ! Agenesis of premolar
created_by: peter
creation_date: 2011-03-10T11:40:37Z

[Term]
id: HP:0011054
name: Agenesis of molar
def: "Agenesis of molar tooth." [HPO:ibailleulforestier]
synonym: "Absence of molar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absent molars" EXACT layperson []
synonym: "Failure of development of molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing molar" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021203
xref: UMLS:C4280348
is_a: HP:0001592 ! Selective tooth agenesis
is_a: HP:0011077 ! Abnormality of molar
created_by: peter
creation_date: 2011-03-10T11:41:46Z

[Term]
id: HP:0011055
name: Agenesis of permanent molar
def: "Agenesis of secondary molar tooth." [HPO:ibailleulforestier]
synonym: "Absence of adult molar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of permanent molar" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of secondary molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of permanent molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of secondary molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing adult molar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent molar" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023563
xref: UMLS:C4280347
is_a: HP:0011054 ! Agenesis of molar
created_by: peter
creation_date: 2011-03-10T11:44:27Z

[Term]
id: HP:0011056
name: Agenesis of first permanent molar tooth
def: "Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both." [HPO:ibailleulforestier]
synonym: "Absence of first permanent molar" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of six year molar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of six year molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of first permanent molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of six year molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing first permanent molar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing six year molar" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023562
xref: UMLS:C4280346
is_a: HP:0011055 ! Agenesis of permanent molar
created_by: peter
creation_date: 2011-03-10T11:45:27Z

[Term]
id: HP:0011057
name: Agenesis of second permanent molar
def: "Agenesis of either mandibular second permanent molar or maxillary second permanent molar." [HPO:ibailleulforestier]
synonym: "Absence of second permanent molar" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of twelve year molar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of twelve year molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of second permanent molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of twelve year molar" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing second permanent molar" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing twelve year molar" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023561
xref: UMLS:C4280257
is_a: HP:0011055 ! Agenesis of permanent molar
created_by: peter
creation_date: 2011-03-10T11:47:58Z

[Term]
id: HP:0011058
name: Generalized periodontitis
def: "A generalized form of periodontitis." [HPO:ibailleulforestier]
synonym: "Generalized gum disease" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Generalized periodontal disease" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Widespread gum disease" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023560
xref: UMLS:C4280345
is_a: HP:0000704 ! Periodontitis
created_by: peter
creation_date: 2011-03-10T12:23:22Z

[Term]
id: HP:0011059
name: Localized periodontitis
def: "A localized form of periodontitis." [HPO:ibailleulforestier]
synonym: "Limited area of gum disease" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Localized gum disease" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Localized periodontal disease" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023559
xref: UMLS:C4280344
is_a: HP:0000704 ! Periodontitis
created_by: peter
creation_date: 2011-03-10T12:26:35Z

[Term]
id: HP:0011060
name: Dentinogenesis imperfecta limited to primary teeth
def: "Developmental dysplasia of dentin affecting only the primary dentition." [HPO:ibailleulforestier]
synonym: "Dentin dysplasia" RELATED []
synonym: "Dentinogenesis imperfecta of baby teeth" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D003805
xref: SNOMEDCT_US:109492001
xref: UMLS:C0011430
xref: UMLS:C4023558
is_a: HP:0000703 ! Dentinogenesis imperfecta
created_by: peter
creation_date: 2011-03-11T12:26:32Z

[Term]
id: HP:0011061
name: Abnormality of dental structure
def: "An abnormality of the structure or composition of the teeth." [HPO:ibailleulforestier]
synonym: "Abnormality of tooth part" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of tooth structure" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023557
is_a: HP:0000164 ! Abnormality of the dentition
created_by: peter
creation_date: 2011-03-10T01:44:04Z

[Term]
id: HP:0011062
name: Misalignment of incisors
def: "Misaligned incisor." [HPO:ibailleulforestier]
synonym: "Abnormality of alignment of incisors" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of position of incisors" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked incisors" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Malposition of incisors" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Misalignment of incisors" EXACT layperson []
xref: UMLS:C4023556
xref: UMLS:C4280343
is_a: HP:0000676 ! Abnormality of the incisor
is_a: HP:0000692 ! Misalignment of teeth
created_by: peter
creation_date: 2011-03-10T01:57:43Z

[Term]
id: HP:0011063
name: Abnormality of incisor morphology
def: "An abnormality of morphology of the incisor tooth." [HPO:ibailleulforestier]
synonym: "Abnormality of shape of incisor" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023555
is_a: HP:0000676 ! Abnormality of the incisor
is_a: HP:0006482 ! Abnormality of dental morphology
created_by: peter
creation_date: 2011-03-10T02:06:54Z

[Term]
id: HP:0011064
name: Abnormal number of incisors
def: "The presence of an altered number of the incisor teeth." [HPO:ibailleulforestier]
synonym: "Abnormal number of front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal number of incisors" EXACT layperson []
xref: UMLS:C4023554
is_a: HP:0000676 ! Abnormality of the incisor
is_a: HP:0006483 ! Abnormal number of teeth
created_by: peter
creation_date: 2011-03-10T02:09:16Z

[Term]
id: HP:0011065
name: Conical incisor
alt_id: HP:0000673
alt_id: HP:0006345
alt_id: HP:0011066
def: "An abnormal conical morphology of the incisor tooth." [HPO:ibailleulforestier]
comment: Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are.
synonym: "Cone shaped front tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Conoid incisor" EXACT []
synonym: "Peg shaped front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Peg shaped incisors" EXACT []
synonym: "Peg-shaped incisors" EXACT []
synonym: "Pointed front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Pointed incisor" RELATED []
synonym: "Shark tooth incisor" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856136
xref: UMLS:C4020759
xref: UMLS:C4280341
xref: UMLS:C4280342
is_a: HP:0000698 ! Conical tooth
is_a: HP:0011063 ! Abnormality of incisor morphology
created_by: peter
creation_date: 2011-03-10T02:14:34Z

[Term]
id: HP:0011067
name: Mesiodens
def: "The presence of a supernumerary tooth in the midline between the maxillary central incisors." [HPO:ibailleulforestier, pmid:18262485]
comment: A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors.
synonym: "Extra tooth" BROAD layperson []
synonym: "Extra tooth in the midline" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Median supernumary tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Mesiodentes" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Midline supernumary tooth" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D014096
xref: SNOMEDCT_US:17802000
xref: SNOMEDCT_US:266414008
xref: SNOMEDCT_US:367534004
xref: SNOMEDCT_US:8666004
xref: UMLS:C0040457
xref: UMLS:C0266030
xref: UMLS:C4280340
is_a: HP:0011069 ! Increased number of teeth
created_by: peter
creation_date: 2011-03-10T02:38:59Z

[Term]
id: HP:0011068
name: Odontoma
def: "The presence of an odontoma." [HPO:ibailleulforestier]
comment: MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma).
synonym: "Odontomas" RELATED [HPO:skoehler]
xref: MSH:D009810
xref: SNOMEDCT_US:79074005
xref: UMLS:C0028882
is_a: HP:0010566 ! Hamartoma
is_a: HP:0100612 ! Odontogenic neoplasm
created_by: peter
creation_date: 2011-03-10T02:40:52Z

[Term]
id: HP:0011069
name: Increased number of teeth
alt_id: HP:0000672
def: "The presence of a supernumerary, i.e., extra, tooth or teeth." [HPO:ibailleulforestier]
comment: The most frequent supernumerary tooth is a mesiodens, which occurs between the two maxillary central incisors. Often it fails to erupt, but creates a large anterior diastema, and would not be detected on physical examination (requires X-ray evaluation). This designation excludes coexistence of primary and permanent dentition due to delayed loss of the former. Note that this term does not refer to the situation in which two rows of teeth are seen at the time of eruption of permanent dentition before exfoliation of primary teeth, which can be a normal finding.
subset: hposlim_core
synonym: "Extra teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperdontia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased number of teeth" EXACT layperson []
synonym: "Increased tooth count" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "More teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Supernumary dentition" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Supernumary teeth" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Supernumerary teeth" EXACT []
synonym: "Supernumerary tooth" EXACT []
synonym: "Supplemental dentition" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Supplemental teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D014096
xref: SNOMEDCT_US:266414008
xref: SNOMEDCT_US:367534004
xref: SNOMEDCT_US:8666004
xref: UMLS:C0040457
is_a: HP:0006483 ! Abnormal number of teeth
created_by: peter
creation_date: 2011-03-10T02:52:19Z

[Term]
id: HP:0011070
name: Abnormality of molar morphology
def: "An abnormality of morphology of molar tooth." [HPO:ibailleulforestier]
synonym: "Abnormal shape of molar tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023553
is_a: HP:0006482 ! Abnormality of dental morphology
is_a: HP:0011077 ! Abnormality of molar
created_by: peter
creation_date: 2011-03-10T03:45:51Z

[Term]
id: HP:0011071
name: Abnormality of permanent molar morphology
def: "An abnormality of morphology of permanent molar." [HPO:ibailleulforestier]
synonym: "Abnormality of shape of adult molar" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of shape of permanent molar" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023552
is_a: HP:0011070 ! Abnormality of molar morphology
created_by: peter
creation_date: 2011-03-10T03:48:43Z

[Term]
id: HP:0011072
name: Rootless teeth
synonym: "Absence of tooth root" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of tooth root" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of tooth root" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing tooth root" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Rootless teeth" EXACT layperson []
synonym: "Teeth without roots" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Tooth with dentin dysplasia type i" RELATED [ORCID:0000-0001-5889-4463]
xref: MSH:C538215
xref: SNOMEDCT_US:109493006
xref: UMLS:C0399379
xref: UMLS:C4082200
is_a: HP:0006486 ! Abnormality of the dental root
created_by: peter
creation_date: 2011-03-10T03:56:41Z

[Term]
id: HP:0011073
name: Abnormality of dental color
def: "A developmental defect of tooth color." [HPO:ibailleulforestier]
synonym: "Abnormality of dental color" EXACT layperson []
synonym: "Abnormality of dental shade" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of tooth color" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of tooth shade" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023551
is_a: HP:0011061 ! Abnormality of dental structure
created_by: peter
creation_date: 2011-03-10T05:20:03Z

[Term]
id: HP:0011074
name: Localized hypoplasia of dental enamel
def: "A localized form of developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier]
synonym: "Localized dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Localized hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023550
xref: UMLS:C4280339
is_a: HP:0006297 ! Hypoplasia of dental enamel
created_by: peter
creation_date: 2011-03-10T05:13:09Z

[Term]
id: HP:0011075
name: Green teeth
def: "A green staining of teeth." [pmid:12686928]
comment: Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis.
synonym: "Green colored teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Green teeth" EXACT layperson []
synonym: "Green tooth shade" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023549
is_a: HP:0011073 ! Abnormality of dental color
created_by: peter
creation_date: 2011-03-10T05:23:18Z

[Term]
id: HP:0011076
name: Abnormality of premolar
def: "An abnormality of premolar tooth." [HPO:ibailleulforestier]
synonym: "Abnormality of bicuspid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of premolar" EXACT layperson []
xref: UMLS:C4023548
is_a: HP:0000164 ! Abnormality of the dentition
created_by: peter
creation_date: 2011-03-11T09:56:17Z

[Term]
id: HP:0011077
name: Abnormality of molar
def: "An abnormality of molar tooth." [HPO:ibailleulforestier]
synonym: "Abnormality of molar" EXACT layperson []
xref: UMLS:C4023547
is_a: HP:0000164 ! Abnormality of the dentition
created_by: peter
creation_date: 2011-03-11T09:57:49Z

[Term]
id: HP:0011078
name: Abnormality of canine
def: "An abnormality of canine tooth." [HPO:ibailleulforestier]
synonym: "Abnormality of canine" EXACT layperson []
synonym: "Abnormality of eye tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023546
is_a: HP:0000164 ! Abnormality of the dentition
created_by: peter
creation_date: 2011-03-11T09:58:41Z

[Term]
id: HP:0011079
name: Impacted tooth
def: "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth)." [HPO:ibailleulforestier]
subset: hposlim_core
synonym: "Buried tooth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Impacted tooth" EXACT layperson []
synonym: "Retained tooth" EXACT []
xref: MSH:D014095
xref: SNOMEDCT_US:129263008
xref: SNOMEDCT_US:235104008
xref: UMLS:C0040456
xref: UMLS:C4280338
is_a: HP:0000706 ! Unerupted tooth
created_by: peter
creation_date: 2011-03-11T10:18:55Z

[Term]
id: HP:0011080
name: Abnormality of premolar morphology
def: "An abnormality of morphology of premolar tooth." [HPO:ibailleulforestier]
synonym: "Abnormality of bicuspid morphology" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of shape of bicuspid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of shape of premolar" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023545
is_a: HP:0006482 ! Abnormality of dental morphology
is_a: HP:0011076 ! Abnormality of premolar
created_by: peter
creation_date: 2011-03-11T10:33:42Z

[Term]
id: HP:0011081
name: Incisor macrodontia
def: "Increased size of the incisor tooth." [HPO:ibailleulforestier]
synonym: "Hyperplasia of incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of incisor" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Increased size of incisor" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of incisor" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large incisor" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023544
xref: UMLS:C4280337
is_a: HP:0001572 ! Macrodontia
is_a: HP:0011063 ! Abnormality of incisor morphology
created_by: peter
creation_date: 2011-03-11T10:39:44Z

[Term]
id: HP:0011082
name: Conical primary incisor
def: "An abnormal conical morphology of the primary incisor." [HPO:ibailleulforestier]
synonym: "Cone shaped front baby tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Conical deciduous incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Conoid primary incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Peg shaped front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Peg shaped primary incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Pointed front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Pointed primary incisor" RELATED layperson []
synonym: "Primary front shark tooth" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023543
is_a: HP:0011065 ! Conical incisor
created_by: peter
creation_date: 2011-03-11T11:06:57Z

[Term]
id: HP:0011083
name: Conical maxillary incisor
def: "An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both." [HPO:ibailleulforestier]
synonym: "Cone shaped maxillary incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cone shaped upper front tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Conoid maxillary incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Peg shaped upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Pointed maxillary incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Pointed upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Upper front shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023542
is_a: HP:0011065 ! Conical incisor
created_by: peter
creation_date: 2011-03-11T11:36:11Z

[Term]
id: HP:0011084
name: Hypocalcification of dental enamel
def: "A form of hypomineralization of enamel characterized by reduced calcification." [pmid:18499550]
synonym: "Decreased enamel calcification" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Poorly calcified tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023541
is_a: HP:0006285 ! Hypomineralization of enamel
created_by: peter
creation_date: 2011-03-11T12:08:46Z

[Term]
id: HP:0011085
name: Hypomature dental enamel
def: "A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color." [HPO:ibailleulforestier]
comment: Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin.
synonym: "Immature tooth enamel" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Soft teeth" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Soft tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023540
xref: UMLS:C4280266
xref: UMLS:C4280336
is_a: HP:0006285 ! Hypomineralization of enamel
created_by: peter
creation_date: 2011-03-11T12:10:33Z

[Term]
id: HP:0011086
name: Dentinogenesis imperfecta of primary and permanent teeth
def: "Developmental dysplasia of dentin or both the primary dentition and the permanent dentition." [HPO:ibailleulforestier]
synonym: "Dentinogenesis imperfecta of adult and baby teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Dentinogenesis imperfecta of both sets of teeth" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023539
is_a: HP:0000703 ! Dentinogenesis imperfecta
created_by: peter
creation_date: 2011-03-11T12:28:37Z

[Term]
id: HP:0011087
name: Talon cusp
def: "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown)." [HPO:ibailleulforestier]
subset: hposlim_core
synonym: "Dens evaginatus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Extra cusp on inside of front tooth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Talon cusps" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:234955005
xref: SNOMEDCT_US:63691004
xref: UMLS:C0266034
xref: UMLS:C0399357
xref: UMLS:C4280335
is_a: HP:0011063 ! Abnormality of incisor morphology
created_by: peter
creation_date: 2011-03-11T02:00:28Z

[Term]
id: HP:0011088
name: Dens in dente
def: "An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth." [HPO:ibailleulforestier]
comment: Dens in dente is Latin for tooth inside of tooth.
synonym: "Dens invaginatus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tooth within a tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D003719
xref: SNOMEDCT_US:55197001
xref: UMLS:C0011320
is_a: HP:0011063 ! Abnormality of incisor morphology
created_by: peter
creation_date: 2011-03-11T02:07:28Z

[Term]
id: HP:0011089
name: Double tooth
def: "A dental anomaly characterized by the presence of a two fused teeth." [HPO:ibailleulforestier]
synonym: "Conjoined teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Double tooth" EXACT layperson []
xref: MSH:D005671
xref: SNOMEDCT_US:1744008
xref: UMLS:C0016873
is_a: HP:0006482 ! Abnormality of dental morphology
created_by: peter
creation_date: 2011-03-11T02:13:26Z

[Term]
id: HP:0011090
name: Fused teeth
def: "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch." [pmid:18167487]
subset: hposlim_core
synonym: "Fused teeth" EXACT layperson []
synonym: "Fusion of teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Joined teeth" EXACT layperson []
xref: MSH:D005671
xref: SNOMEDCT_US:1744008
xref: UMLS:C0016873
is_a: HP:0011089 ! Double tooth
created_by: peter
creation_date: 2011-03-11T02:17:04Z

[Term]
id: HP:0011091
name: Gemination
def: "The development of two teeth from a single tooth bud, leading to a larger fused tooth." [pmid:18167487]
comment: If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal.
synonym: "Gemination of tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Splitting of crown of tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:40273006
xref: UMLS:C0266033
is_a: HP:0011089 ! Double tooth
created_by: peter
creation_date: 2011-03-11T02:19:11Z

[Term]
id: HP:0011092
name: Mulberry molar
def: "Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry." [HPO:19179952]
synonym: "Syphilitic permanent first molar" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:109436001
xref: UMLS:C0266024
is_a: HP:0011070 ! Abnormality of molar morphology
created_by: peter
creation_date: 2011-03-11T02:25:56Z

[Term]
id: HP:0011093
name: Molarization of premolar
def: "Increased size and molar morphology of premolar tooth." [HPO:ibailleulforestier, pmid:15587104]
synonym: "Enlarged premolar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased size of premolar" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Molar shape of bicuspid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Molar shape of premolar" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Molarization of bicuspid" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1404304
xref: UMLS:C4280334
is_a: HP:0011080 ! Abnormality of premolar morphology
created_by: peter
creation_date: 2011-03-11T02:32:39Z

[Term]
id: HP:0011094
name: Overbite
def: "Maxillary teeth cover the mandibular teeth when biting to an increased degree." [HPO:ibailleulforestier]
synonym: "Deep bite" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deep overbite" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased overlap of upper and lower incisors" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Overbite" EXACT layperson []
synonym: "Scissors bite" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D057887
xref: SNOMEDCT_US:10816007
xref: SNOMEDCT_US:251293001
xref: SNOMEDCT_US:60476005
xref: SNOMEDCT_US:63783001
xref: UMLS:C0266063
xref: UMLS:C0266067
xref: UMLS:C1305740
is_a: HP:0000692 ! Misalignment of teeth
created_by: peter
creation_date: 2011-03-11T05:13:34Z

[Term]
id: HP:0011095
name: Overjet
def: "An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure." [HPO:ibailleulforestier]
synonym: "Abnormality of horizontal incisor relationship" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Buck teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Protrusion of the maxillary incisors" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Protrusion of upper teeth in front of lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Upper teeth sticking out forward" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D057887
xref: SNOMEDCT_US:251292006
xref: SNOMEDCT_US:70305005
xref: UMLS:C0596028
is_a: HP:0000692 ! Misalignment of teeth
created_by: peter
creation_date: 2011-03-11T05:15:43Z

[Term]
id: HP:0011096
name: Peripheral demyelination
alt_id: HP:0003381
alt_id: HP:0006939
alt_id: HP:0007282
def: "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson]
comment: This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block.
synonym: "Demyelination" EXACT []
xref: UMLS:C0878575
is_a: HP:0003130 ! Abnormal peripheral myelination
created_by: peter
creation_date: 2011-03-28T09:01:02Z

[Term]
id: HP:0011097
name: Epileptic spasms
def: "A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure." [HPO:jalbers]
comment: The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography).
synonym: "Salaam convulsions" EXACT []
synonym: "Salaam seizures" EXACT []
synonym: "West syndrome" RELATED []
xref: MSH:D013036
xref: SNOMEDCT_US:28055006
xref: UMLS:C0037769
xref: UMLS:C1527366
is_a: HP:0001250 ! Seizures
created_by: peter
creation_date: 2011-05-04T01:56:31Z

[Term]
id: HP:0011098
name: Speech apraxia
def: "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [HPO:probinson]
comment: Speech apraxia may co-occur with oral apraxia and limb apraxia.
synonym: "Apraxia of speech" EXACT []
synonym: "Verbal dyspraxia" EXACT []
xref: MSH:D001072
xref: SNOMEDCT_US:361276003
xref: SNOMEDCT_US:361277007
xref: SNOMEDCT_US:74227009
xref: UMLS:C0264611
xref: UMLS:C0349391
is_a: HP:0002186 ! Apraxia
created_by: peter
creation_date: 2011-05-15T08:57:11Z

[Term]
id: HP:0011099
name: Spastic hemiparesis
def: "Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes." [HPO:probinson]
synonym: "Spastic hemiplegia" EXACT []
xref: MSH:D006429
xref: SNOMEDCT_US:79633009
xref: UMLS:C0154694
is_a: HP:0001257 ! Spasticity
created_by: peter
creation_date: 2011-06-04T09:10:40Z

[Term]
id: HP:0011100
name: Intestinal atresia
def: "An abnormal closure, or atresia of the tubular structure of the intestine." [HPO:probinson]
comment: Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen.
xref: MSH:D007409
xref: UMLS:C0021828
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0002589 ! Gastrointestinal atresia
created_by: peter
creation_date: 2011-06-04T09:16:25Z

[Term]
id: HP:0011102
name: Ileal atresia
def: "An abnormal closure, or atresia of the tubular structure of the ileum." [HPO:probinson]
xref: SNOMEDCT_US:25896009
xref: UMLS:C0266176
is_a: HP:0001549 ! Abnormal ileum morphology
is_a: HP:0011100 ! Intestinal atresia
created_by: peter
creation_date: 2011-06-04T09:22:34Z

[Term]
id: HP:0011103
name: Abnormal left ventricular outflow tract morphology
def: "An abnormality of the outflow tract of the left ventricle." [HPO:probinson]
synonym: "Abnormality of the left ventricular outflow tract" EXACT []
xref: SNOMEDCT_US:253545000
xref: UMLS:C0344916
is_a: HP:0001711 ! Abnormal left ventricle morphology
created_by: peter
creation_date: 2011-06-05T04:15:50Z

[Term]
id: HP:0011104
name: Abnormality of blood volume homeostasis
def: "An abnormality in the amount of volume occupied by intravascular blood." [HPO:probinson]
xref: UMLS:C4023537
is_a: HP:0011028 ! Abnormality of blood circulation
created_by: peter
creation_date: 2011-06-07T11:16:33Z

[Term]
id: HP:0011105
name: Hypervolemia
def: "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson]
synonym: "Fluid overload in blood" EXACT layperson [https://en.wikipedia.org/wiki/hypervolemia, ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:21639008
xref: UMLS:C0546817
is_a: HP:0011104 ! Abnormality of blood volume homeostasis
created_by: peter
creation_date: 2011-06-07T11:17:32Z

[Term]
id: HP:0011106
name: Hypovolemia
def: "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson]
synonym: "Depleted blood volume" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D020896
xref: SNOMEDCT_US:28560003
xref: UMLS:C0546884
is_a: HP:0011104 ! Abnormality of blood volume homeostasis
created_by: peter
creation_date: 2011-06-07T11:18:54Z

[Term]
id: HP:0011107
name: Recurrent aphthous stomatitis
def: "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." [HPO:probinson]
comment: Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa.
synonym: "Aphthous stomatitis" RELATED []
synonym: "Buccal aphthous ulcers" RELATED []
synonym: "Recurrent aphthous ulcers" RELATED []
synonym: "Recurrent canker sores" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D013281
xref: SNOMEDCT_US:110426005
xref: SNOMEDCT_US:398870000
xref: SNOMEDCT_US:426965005
xref: SNOMEDCT_US:427617000
xref: UMLS:C0038363
xref: UMLS:C2937365
is_a: HP:0010280 ! Stomatitis
is_a: HP:0032154 ! Aphthous ulcer
created_by: peter
creation_date: 2011-06-08T07:11:09Z

[Term]
id: HP:0011108
name: Recurrent sinusitis
def: "A recurrent form of sinusitis." [HPO:probinson]
comment: Recurring inflammation of the paranasal sinuses.
synonym: "Recurrent sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Sinusitis, recurrent" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:195788001
xref: UMLS:C0581354
xref: UMLS:C4280333
is_a: HP:0000246 ! Sinusitis
is_a: HP:0002788 ! Recurrent upper respiratory tract infections
created_by: peter
creation_date: 2011-06-10T07:31:22Z

[Term]
id: HP:0011109
name: Chronic sinusitis
def: "A chronic form of sinusitis." [HPO:probinson]
synonym: "Chronic sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Sinusitis, chronic" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:40055000
xref: UMLS:C0149516
xref: UMLS:C0748720
is_a: HP:0000246 ! Sinusitis
created_by: peter
creation_date: 2011-06-10T07:33:14Z

[Term]
id: HP:0011110
name: Tonsillitis
def: "An inflammation of the tonsils." [HPO:probinson]
synonym: "Inflammation of tonsils" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D014069
xref: SNOMEDCT_US:90176007
xref: UMLS:C0040425
is_a: HP:0100765 ! Abnormality of the tonsils
created_by: peter
creation_date: 2011-06-10T07:46:38Z

[Term]
id: HP:0011111
name: Abnormality of immune serum protein physiology
def: "An abnormality of the concentration or function of circulating immune proteins." [HPO:probinson]
xref: UMLS:C4023536
is_a: HP:0010978 ! Abnormality of immune system physiology
created_by: peter
creation_date: 2011-06-12T08:58:47Z

[Term]
id: HP:0011112
name: Abnormality of serum cytokine level
def: "Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells." [HPO:probinson]
xref: MP:0010210
xref: UMLS:C4023535
is_a: HP:0011111 ! Abnormality of immune serum protein physiology
created_by: peter
creation_date: 2011-06-12T09:03:40Z

[Term]
id: HP:0011113
name: Abnormality of cytokine secretion
def: "An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells)." [HPO:probinson]
xref: MP:0003009
xref: UMLS:C4023534
is_a: HP:0011111 ! Abnormality of immune serum protein physiology
created_by: peter
creation_date: 2011-06-12T09:07:24Z

[Term]
id: HP:0011114
name: Defective production of NFKB1-dependent cytokines
def: "An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha." [HPO:probinson]
xref: UMLS:C4023533
is_a: HP:0011113 ! Abnormality of cytokine secretion
created_by: peter
creation_date: 2011-06-12T09:12:15Z

[Term]
id: HP:0011115
name: Abnormality of chemokine secretion
def: "An abnormality in the production or cellular release of a chemokine (a class of cytokines)." []
xref: UMLS:C4023532
is_a: HP:0011113 ! Abnormality of cytokine secretion
created_by: peter
creation_date: 2011-06-12T09:14:25Z

[Term]
id: HP:0011116
name: Abnormality of interferon secretion
def: "An abnormality in the production or cellular release of interferons (a class of cytokines)." []
xref: UMLS:C4023531
is_a: HP:0011113 ! Abnormality of cytokine secretion
created_by: peter
creation_date: 2011-06-12T09:14:43Z

[Term]
id: HP:0011117
name: Abnormality of interleukin secretion
def: "An abnormality in the production or cellular release of interleukins (a class of cytokines)." []
synonym: "Abnormality of IL secretion" EXACT HP:0045077 []
xref: UMLS:C4023530
is_a: HP:0011113 ! Abnormality of cytokine secretion
created_by: peter
creation_date: 2011-06-12T09:16:10Z

[Term]
id: HP:0011118
name: Abnormality of tumor necrosis factor secretion
def: "An abnormality in the production or cellular release of tumor necrosis factor." []
synonym: "Abnormality of cachectin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, ORCID:0000-0001-6908-9849]
synonym: "Abnormality of cachexin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, ORCID:0000-0001-6908-9849]
xref: MP:0008556
xref: UMLS:C4023529
is_a: HP:0011113 ! Abnormality of cytokine secretion
created_by: peter
creation_date: 2011-06-12T09:16:58Z

[Term]
id: HP:0011119
name: Abnormality of the nasal dorsum
def: "An abnormality of the nasal dorsum, also known as the nasal ridge." [HPO:probinson, pmid:19152422]
comment: The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip.
synonym: "Abnormal morphology of dorsum of nose" NARROW [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the nasal ridge" EXACT []
synonym: "Crooked dorsum of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked nasal dorsum" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the dorsum of the nose" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasal dorsum" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the dorsum of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasal dorsum" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021202
xref: UMLS:C4280332
is_a: HP:0010938 ! Abnormality of the external nose
created_by: peter
creation_date: 2011-06-12T09:37:47Z

[Term]
id: HP:0011120
name: Concave nasal ridge
def: "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip." [HPO:probinson, pmid:19152422]
comment: A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum.
subset: hposlim_core
synonym: "Boxer's nasal deformity" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Boxer's nose deformity" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Concave dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Concave nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Saddle nose" EXACT layperson []
synonym: "Saddle nose deformity" RELATED layperson [HPO:skoehler]
synonym: "Saddle shaped nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Ski jump nose" EXACT layperson []
xref: SNOMEDCT_US:710234009
xref: UMLS:C0264169
is_a: HP:0011119 ! Abnormality of the nasal dorsum
created_by: peter
creation_date: 2011-06-12T09:39:55Z

[Term]
id: HP:0011121
name: Abnormality of skin morphology
def: "Any morphological abnormality of the skin." [HPO:probinson]
synonym: "Abnormal skin morphology" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormal skin structure" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:4133
xref: UMLS:C4023528
is_a: HP:0000951 ! Abnormality of the skin
created_by: peter
creation_date: 2011-06-12T10:03:23Z

[Term]
id: HP:0011122
name: Abnormality of skin physiology
def: "Any abnormality of the physiological function of the skin." [HPO:probinson]
synonym: "Abnormality of skin physiology" EXACT layperson []
xref: UMLS:C4023527
is_a: HP:0000951 ! Abnormality of the skin
created_by: peter
creation_date: 2011-06-12T10:05:14Z

[Term]
id: HP:0011123
name: Inflammatory abnormality of the skin
alt_id: HP:0002727
alt_id: HP:0007423
def: "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." [HPO:probinson]
synonym: "Abnormal tendency to infections of the skin" EXACT []
synonym: "Dermatitis" RELATED []
synonym: "Inflammatory abnormality of the skin" EXACT layperson []
synonym: "Inflammatory skin disease" RELATED []
synonym: "Skin inflammation" EXACT layperson []
xref: MP:0004947
xref: MSH:D003872
xref: SNOMEDCT_US:703938007
xref: UMLS:C0011603
xref: UMLS:C3875321
is_a: HP:0011122 ! Abnormality of skin physiology
is_a: HP:0012649 ! Increased inflammatory response
created_by: peter
creation_date: 2011-06-12T10:06:04Z

[Term]
id: HP:0011124
name: Abnormality of epidermal morphology
def: "An abnormality of the morphology of the epidermis." [HPO:probinson]
xref: UMLS:C4023526
is_a: HP:0011121 ! Abnormality of skin morphology
created_by: peter
creation_date: 2011-06-12T10:11:28Z

[Term]
id: HP:0011125
name: Abnormality of dermal melanosomes
def: "An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis)." [HPO:probinson]
xref: UMLS:C4023525
is_a: HP:0001000 ! Abnormality of skin pigmentation
created_by: peter
creation_date: 2011-06-12T10:19:27Z

[Term]
id: HP:0011126
name: Nephroptosis
def: "A significant descent of the kidney as the patient moves from the supine to the erect position." [HPO:probinson, pmid:18990154]
comment: Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery.
synonym: "Floating kidney" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Renal ptosis" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1384594
is_a: HP:0100542 ! Abnormal localization of kidney
created_by: peter
creation_date: 2011-06-16T07:34:25Z

[Term]
id: HP:0011127
name: Perioral eczema
def: "A type of eczema that occurs in the lips and perioral area." [HPO:probinson]
comment: Perioral eczema mainly affects children.
synonym: "Eczema around the mouth" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1396126
is_a: HP:0000964 ! Eczema
created_by: peter
creation_date: 2011-06-16T07:41:19Z

[Term]
id: HP:0011128
name: Acute esophageal necrosis
def: "A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction." [HPO:probinson, pmid:17322991]
xref: UMLS:C4023524
is_a: HP:0002031 ! Abnormal esophagus morphology
created_by: peter
creation_date: 2011-06-18T08:48:53Z

[Term]
id: HP:0011129
name: Bilateral fetal pyelectasis
def: "A bilateral form of fetal pyelectasis." [HPO:probinson]
synonym: "Bilateral fetal pyelectasia" EXACT []
xref: UMLS:C4023523
is_a: HP:0010945 ! Fetal pyelectasis
created_by: peter
creation_date: 2011-06-19T10:00:34Z

[Term]
id: HP:0011130
name: Abnormal renal calyx morphology
def: "Any abnormality of the morphology of the major calices or minor calices of the kidney." [HPO:probinson]
synonym: "Abnormality of renal calyx morphology" EXACT []
xref: UMLS:C4023522
is_a: HP:0012210 ! Abnormal renal morphology
created_by: peter
creation_date: 2011-06-19T10:06:45Z

[Term]
id: HP:0011131
name: Perianal rash
def: "The presence of a rash (change of color and texture) of the perianal skin." [HPO:probinson]
xref: UMLS:C0240705
is_a: HP:0004378 ! Abnormality of the anus
created_by: peter
creation_date: 2011-06-19T12:16:41Z

[Term]
id: HP:0011132
name: Chronic furunculosis
def: "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection." [HPO:probinson]
comment: Note that a confluence of several furuncles results in a carbuncle.
xref: UMLS:C4023521
is_a: HP:0005406 ! Recurrent bacterial skin infections
created_by: peter
creation_date: 2011-06-19T10:25:47Z

[Term]
id: HP:0011133
name: Increased sensitivity to ionizing radiation
def: "An abnormally increased sensitivity to the effects of ionizing radiation." [HPO:probinson]
comment: Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions.
synonym: "Increased sensitivity to ionising radiation" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4021850
is_a: HP:0011017 ! Abnormal cellular physiology
created_by: peter
creation_date: 2011-06-19T11:04:20Z

[Term]
id: HP:0011134
name: Low-grade fever
def: "Mild fever that does not exceed 38.5 degree centrigrade." [HPO:probinson]
synonym: "Low-grade fever" EXACT layperson []
synonym: "Mild fever" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:304213008
xref: UMLS:C0239574
is_a: HP:0001945 ! Fever
created_by: peter
creation_date: 2011-06-19T12:19:44Z

[Term]
id: HP:0011135
name: Aplasia/Hypoplasia of the sweat glands
def: "Absence or developmental hypoplasia of the sweat glands." [HPO:probinson]
synonym: "Absent/small sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023520
is_a: HP:0000971 ! Abnormal sweat gland morphology
created_by: peter
creation_date: 2011-06-19T02:01:50Z

[Term]
id: HP:0011136
name: Aplasia of the sweat glands
def: "Absence of the sweat glands." [HPO:probinson]
synonym: "Absent sweat glands" EXACT layperson []
synonym: "Lack of sweat glands" EXACT layperson []
xref: UMLS:C2677485
is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands
created_by: peter
creation_date: 2011-06-19T02:06:44Z

[Term]
id: HP:0011137
name: Non-pruritic urticaria
def: "Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus." [HPO:probinson]
comment: Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus.
synonym: "Non-itchy hives" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023519
is_a: HP:0011276 ! Vascular skin abnormality
created_by: peter
creation_date: 2011-06-19T02:17:55Z

[Term]
id: HP:0011138
name: Abnormality of skin adnexa morphology
def: "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [HPO:probinson]
synonym: "Abnormal skin appendage" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023518
is_a: HP:0001574 ! Abnormality of the integument
created_by: peter
creation_date: 2011-06-19T06:25:34Z

[Term]
id: HP:0011139
name: Gastric duplication
def: "Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach." [HPO:probinson]
comment: Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood.
synonym: "Gastric duplication cyst" EXACT []
xref: UMLS:C4021201
is_a: HP:0002577 ! Abnormality of the stomach
is_a: HP:0011140 ! Gastrointestinal duplication
created_by: peter
creation_date: 2011-06-25T08:57:09Z

[Term]
id: HP:0011140
name: Gastrointestinal duplication
def: "A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus." [HPO:probinson, pmid:21218094]
synonym: "GI duplication" EXACT HP:0045077 []
xref: SNOMEDCT_US:33257003
xref: UMLS:C0266019
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract
created_by: peter
creation_date: 2011-06-25T09:02:50Z

[Term]
id: HP:0011141
name: Age-related cataract
def: "A type of cataract (opacification of the lens) that forms during the course of aging." [HPO:probinson, pmid:15708105]
comment: The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker.
synonym: "Clouding of the lens of the eye with age" EXACT layperson [orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:39450006
xref: UMLS:C0036646
is_a: HP:0000518 ! Cataract
created_by: peter
creation_date: 2011-06-27T09:41:38Z

[Term]
id: HP:0011142
name: Age-related nuclear cataract
def: "A type of age-related cataract that primarily affects the nucleus of the lens." [HPO:probinson, pmid:15708105]
comment: As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly.
xref: MSH:C563333
xref: UMLS:C1832423
is_a: HP:0011141 ! Age-related cataract
created_by: peter
creation_date: 2011-06-27T09:49:20Z

[Term]
id: HP:0011143
name: Age-related cortical cataract
def: "A type of age-related cataract that primarily affects the cortex of the lens." [HPO:probinson, pmid:15708105]
comment: The cortex of the lens is made of the newest lens fibres. With ageing, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature.
xref: UMLS:C2880562
is_a: HP:0011141 ! Age-related cataract
created_by: peter
creation_date: 2011-06-27T09:50:54Z

[Term]
id: HP:0011144
name: Age-related posterior subcapsular cataract
def: "A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule." [HPO:probinson, pmid:15708105]
xref: UMLS:C4023517
is_a: HP:0011141 ! Age-related cataract
created_by: peter
creation_date: 2011-06-27T09:52:45Z

[Term]
id: HP:0011145
name: Symptomatic seizures
def: "A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed." [pmid:18184148]
comment: While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more\nepileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute\nmanifestation of the insult and may not recur when the underlying cause has been removed or the acute phase\nhas elapsed.
xref: UMLS:C4023516
is_a: HP:0001250 ! Seizures
created_by: peter
creation_date: 2011-10-18T01:40:33Z

[Term]
id: HP:0011146
name: obsolete Dialeptic seizures
is_obsolete: true
replaced_by: HP:0002384
creation_date: 2011-10-18T01:47:30Z

[Term]
id: HP:0011147
name: Typical absence seizure
def: "A typical absence seizure is a generalized seizure with abrupt onset and offset of altered awareness which can vary in severity (see specific syndromes). Memory for events during the seizures is usually impaired although there may be some retained awareness particularly for adolescents. Clonic movements of eyelids, head, eyebrows, chin, perioral or other facial parts may occur, most typically at 3Hz. Myoclonus of limbs can rarely occur. Oral and manual automatisms are common and there may be perseveration of behaviors occurring prior to seizure onset." [HPO:jalbers, PMID:28276062]
comment: Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges.
synonym: "Typical absence seizures" EXACT HP:0045078 []
xref: MSH:D004832
xref: SNOMEDCT_US:230413002
xref: SNOMEDCT_US:432241000124101
xref: SNOMEDCT_US:50866000
xref: SNOMEDCT_US:79631006
xref: UMLS:C0014553
is_a: HP:0002121 ! Absence seizure
created_by: peter
creation_date: 2011-10-18T01:52:22Z

[Term]
id: HP:0011148
name: obsolete Absence seizures with special features
is_obsolete: true
replaced_by: HP:0002121
creation_date: 2011-10-18T01:56:54Z

[Term]
id: HP:0011149
name: Absence seizure with eyelid myoclonia
def: "Absence seizures accompanied by brief, repetitive, often rhythmic, fast (4-6 Hz) myoclonic jerks of the eyelids with simultaneous upward deviation of the eyeballs and extension of the head. Seizures are typically very brief (less than 6s in duration) and multiple seizures occur on a daily basis. Mostly awareness is retained." [HPO:jalbers, PMID:28276062]
synonym: "Absence seizures with eyelid myoclonia" EXACT HP:0045078 []
xref: UMLS:C4023513
is_a: HP:0002121 ! Absence seizure
created_by: peter
creation_date: 2011-10-18T02:03:21Z

[Term]
id: HP:0011150
name: Myoclonic absence
def: "Rhythmic myoclonic jerks of the shoulders and arms with tonic abduction that results in progressive lifting of the arms during the seizure. The myoclonic jerks are typically bilateral but may be unilateral or asymmetric. Perioral myoclonias and rhythmic jerks of the head and legs may occur. Seizures last 10-60 seconds and typically occur daily. Level of awareness varies from complete loss of awareness to retained awareness." [HPO:ihelbig, PMID:28276062]
synonym: "Myoclonic absences" EXACT HP:0045078 []
xref: UMLS:C4023512
is_a: HP:0002121 ! Absence seizure
created_by: peter
creation_date: 2011-10-18T02:04:35Z

[Term]
id: HP:0011151
name: Obtundation status
def: "Atypical absence lasting for more than 30 minutes." [HPO:jalbers]
comment: Obtundation status is often seen in patients with Lennox-Gastaut-Syndrome.
xref: UMLS:C4023511
is_a: HP:0007270 ! Atypical absence seizure
is_a: HP:0031475 ! Nonconvulsive status epilepticus
created_by: peter
creation_date: 2011-10-18T02:09:55Z

[Term]
id: HP:0011152
name: Early onset absence seizures
def: "Typical absence seizures starting before the age of 4 years." [HPO:ihelbig]
synonym: "Early onset petit mal seizures" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023510
is_a: HP:0011147 ! Typical absence seizure
created_by: peter
creation_date: 2011-10-18T02:12:41Z

[Term]
id: HP:0011153
name: Focal motor seizure
def: "Focal seizures involving musculature in any form." [HPO:jalbers]
comment: The motor event can consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
synonym: "Focal motor seizures" EXACT HP:0045078 []
synonym: "Localized motor seizures" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Partial motor seizures" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D020938
xref: SNOMEDCT_US:128612007
xref: SNOMEDCT_US:82401000
xref: UMLS:C0016399
is_a: HP:0007359 ! Focal-onset seizure
created_by: peter
creation_date: 2011-10-18T02:33:17Z

[Term]
id: HP:0011154
name: Focal autonomic seizure
def: "Focal seizures with an objectively documented and distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregularity functions." [HPO:jalbers]
synonym: "Focal autonomic seizures" EXACT HP:0045078 []
xref: UMLS:C4023509
is_a: HP:0007359 ! Focal-onset seizure
created_by: peter
creation_date: 2011-10-18T02:23:31Z

[Term]
id: HP:0011155
name: Focal autonomic seizures with altered responsiveness
def: "An autonomic seizure with altered responsiveness." [HPO:jalbers]
synonym: "Localized autonomic seizures with altered responsiveness" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Partial autonomic seizures with altered responsiveness" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023508
is_a: HP:0011154 ! Focal autonomic seizure
created_by: peter
creation_date: 2011-10-18T02:24:09Z

[Term]
id: HP:0011156
name: Focal autonomic seizures without altered responsiveness
def: "An autonomic seizure without altered responsiveness." [HPO:jalbers]
synonym: "Localized autonomic seizures without altered responsiveness" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Partial autonomic seizures without altered responsiveness" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023507
is_a: HP:0011154 ! Focal autonomic seizure
created_by: peter
creation_date: 2011-10-18T02:24:42Z

[Term]
id: HP:0011157
name: Focal sensory seizure
def: "A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer." [DDD:ssisodiya, HPO:jalbers, PMID:28276062, PMID:28276064]
synonym: "Epileptic aura" EXACT []
xref: MSH:D004827
xref: SNOMEDCT_US:18618006
xref: UMLS:C0236018
is_a: HP:0007359 ! Focal-onset seizure
created_by: peter
creation_date: 2011-10-18T02:26:40Z

[Term]
id: HP:0011158
name: Focal sensory auditory seizure
def: "A type of focal sensory seizure that is characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones." [HPO:jalbers, PMID:28276062, PMID:28276064]
comment: More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe.
synonym: "Auditory aura" EXACT []
xref: UMLS:C1838063
is_a: HP:0011157 ! Focal sensory seizure
created_by: peter
creation_date: 2011-10-18T02:26:59Z

[Term]
id: HP:0011159
name: Epigastric auras
def: "Auras with abdominal discomfort including nausea, emptiness, tightness, churning, butterflies, malaise, pain, and hunger; sensation may rise to chest or throat. Some phenomena may reflect ictal autonomic dysfunction." [HPO:jalbers]
synonym: "Abdominal aura" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Visceral aura" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023506
is_a: HP:0011157 ! Focal sensory seizure
created_by: peter
creation_date: 2011-10-18T02:27:58Z

[Term]
id: HP:0011160
name: Focal sensory gustatory seizure
def: "Auras with taste sensations including acidic, bitter, salty , sweet or metallic tastes." [HPO:jalbers]
synonym: "Gustatory aura" EXACT []
synonym: "Gustatory auras" EXACT HP:0045078 []
synonym: "Taste hallucinations" EXACT layperson [http://medical-dictionary.thefreedictionary.com/gustatory+aura, ORCID:0000-0001-5208-3432]
xref: MSH:D006212
xref: SNOMEDCT_US:29139005
xref: UMLS:C0233766
is_a: HP:0011157 ! Focal sensory seizure
created_by: peter
creation_date: 2011-10-18T02:28:36Z

[Term]
id: HP:0011161
name: Olfactory auras
def: "Auras with sensation of odor, usually disagreeable." [HPO:jalbers]
xref: UMLS:C4023504
is_a: HP:0011157 ! Focal sensory seizure
created_by: peter
creation_date: 2011-10-18T02:28:55Z

[Term]
id: HP:0011162
name: Psychic auras
def: "Auras with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events." [HPO:jalbers]
comment: Events may appear alone or in combination. Included are feelings of depersonalisation. These phenomena have subjective qualities similar to those experienced in life but are recognised by the subject as occurring outside of actual context.
xref: UMLS:C4023503
is_a: HP:0011157 ! Focal sensory seizure
created_by: peter
creation_date: 2011-10-18T02:29:23Z

[Term]
id: HP:0011163
name: Somatosensory auras
def: "Auras with sensation of tingling, numbness, electric shock sensations, pain, sense of movement, or desire to move." [HPO:jalbers]
xref: UMLS:C4023502
is_a: HP:0011157 ! Focal sensory seizure
created_by: peter
creation_date: 2011-10-18T02:29:52Z

[Term]
id: HP:0011164
name: Vegetative auras
def: "A sensation consistent with involvement of the autonomic nervous system, including cardiovascular, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions." [HPO:jalbers]
synonym: "Autonomic auras" EXACT []
xref: UMLS:C4021200
is_a: HP:0011157 ! Focal sensory seizure
created_by: peter
creation_date: 2011-10-18T02:30:10Z

[Term]
id: HP:0011165
name: Visual auras
alt_id: HP:0007175
def: "Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis." [HPO:jalbers]
comment: Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments.
xref: UMLS:C1850765
is_a: HP:0011157 ! Focal sensory seizure
created_by: peter
creation_date: 2011-10-18T02:31:15Z

[Term]
id: HP:0011166
name: Focal myoclonic seizures
synonym: "Local myoclonic seizures" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Partial myoclonic seizures" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023501
is_a: HP:0011153 ! Focal motor seizure
created_by: peter
creation_date: 2011-10-18T02:34:14Z

[Term]
id: HP:0011167
name: Focal tonic seizures
def: "Seizures with sustained increase in muscle contraction in parts of the body lasting a few seconds to minutes." [HPO:jalbers]
synonym: "Local tonic seizures" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Partial tonic seizures" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D020938
xref: UMLS:C0752324
is_a: HP:0011153 ! Focal motor seizure
created_by: peter
creation_date: 2011-10-18T02:35:03Z

[Term]
id: HP:0011168
name: Eyelid myoclonias
def: "Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures." [HPO:ihelbig]
xref: UMLS:C4023500
is_a: HP:0011166 ! Focal myoclonic seizures
created_by: peter
creation_date: 2011-10-18T02:39:07Z

[Term]
id: HP:0011169
name: Generalized clonic seizures
def: "Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec." [HPO:jalbers]
xref: UMLS:C4023499
is_a: HP:0002197 ! Generalized-onset seizure
created_by: hecht
creation_date: 2011-11-19T09:53:43Z

[Term]
id: HP:0011170
name: Myoclonic atonic seizures
def: "Seizures with sudden loss or diminution of muscle tone with a preceding myoclonic or tonic event lasting one to two seconds or more, involving head, trunk, jaw or limb musculature." [HPO:jalbers]
xref: MSH:D004831
xref: SNOMEDCT_US:230421008
xref: UMLS:C0393702
is_a: HP:0002123 ! Generalized myoclonic seizures
created_by: hecht
creation_date: 2011-11-19T10:00:46Z

[Term]
id: HP:0011171
name: Simple febrile seizures
def: "Febrile seizures with generalized tonic-clonic semiology, duration less than 15 minutes, and without recurrence within the next 24 hours." [HPO:jalbers]
synonym: "Simple febrile convulsion" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432]
synonym: "Simple fever fit" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432]
xref: MSH:D003294
xref: SNOMEDCT_US:432354000
xref: UMLS:C0149886
is_a: HP:0002373 ! Febrile seizures
created_by: hecht
creation_date: 2011-11-19T10:09:04Z

[Term]
id: HP:0011172
name: Complex febrile seizures
def: "Febrile seizures with focal semiology, duration of more than 15 minutes, or occurring in a cluster of 2 or more convulsions within 24 hours." [HPO:jalbers]
comment: Note that semiology refers to the clinical symptoms of an epileptic seizure.
xref: MSH:D003294
xref: SNOMEDCT_US:433083002
xref: UMLS:C0751057
is_a: HP:0002373 ! Febrile seizures
created_by: hecht
creation_date: 2011-11-19T10:10:00Z

[Term]
id: HP:0011173
name: Hypokinetic seizures
def: "Seizures with a decrease in amplitude and/or rate or arrest of ongoing motor activity." [HPO:jalbers]
xref: UMLS:C4023498
is_a: HP:0011153 ! Focal motor seizure
created_by: hecht
creation_date: 2011-11-19T10:12:04Z

[Term]
id: HP:0011174
name: Hyperkinetic seizures
def: "Seizures with increase in rate of ongoing movements or inappropriately rapid performance of a movement involving predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrashing, rocking movements." [HPO:jalbers]
xref: UMLS:C4023497
is_a: HP:0011153 ! Focal motor seizure
created_by: hecht
creation_date: 2011-11-19T10:13:17Z

[Term]
id: HP:0011175
name: Versive seizures
def: "Tonic seizures with a sustained, forced conjugate ocular, cephalic and/or truncal rotation or lateral deviation from the midline." [HPO:jalbers]
xref: MSH:D020938
xref: SNOMEDCT_US:246530009
xref: UMLS:C0422846
is_a: HP:0011167 ! Focal tonic seizures
created_by: hecht
creation_date: 2011-11-19T10:14:54Z

[Term]
id: HP:0011176
name: EEG with constitutional variants
def: "An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic." [HPO:jalbers]
xref: UMLS:C4023496
is_a: HP:0002353 ! EEG abnormality
created_by: hecht
creation_date: 2011-11-19T10:18:43Z

[Term]
id: HP:0011177
name: EEG with 4-5/second background activity
def: "EEG background activity at 4-5/second." [HPO:jalbers]
comment: EEG background activity at 4-5/second is rare and unusual but not generally pathologic.
xref: UMLS:C4023495
is_a: HP:0011176 ! EEG with constitutional variants
created_by: hecht
creation_date: 2011-11-19T10:20:59Z

[Term]
id: HP:0011178
name: Alpha-EEG
def: "EEG dominated by diffuse alpha-waves (8-13Hz)." [HPO:jalbers]
comment: Alpha-EEG is a rare finding but not generally pathologic.
xref: UMLS:C4023494
is_a: HP:0011176 ! EEG with constitutional variants
created_by: hecht
creation_date: 2011-11-19T10:23:53Z

[Term]
id: HP:0011179
name: Beta-EEG
def: "EEG dominated by diffuse beta-waves (>13 Hz)." [HPO:jalbers]
comment: Beta-EEG is a rare finding but not generally pathologic.
synonym: "Beta wave electroencephalography" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023493
is_a: HP:0011176 ! EEG with constitutional variants
is_a: HP:0011202 ! EEG with diffuse acceleration
created_by: hecht
creation_date: 2011-11-19T10:25:00Z

[Term]
id: HP:0011180
name: Partial beta-EEG
def: "EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz)." [HPO:jalbers]
comment: A partial beta-EEG is a rare finding but not generally pathologic.
xref: UMLS:C4023492
is_a: HP:0011179 ! Beta-EEG
created_by: hecht
creation_date: 2011-11-19T10:25:50Z

[Term]
id: HP:0011181
name: Low voltage EEG
def: "EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz)." [HPO:jalbers]
comment: A low voltage EEG is a rare finding but not generally pathologic.
xref: UMLS:C1851759
is_a: HP:0011176 ! EEG with constitutional variants
created_by: hecht
creation_date: 2011-11-19T10:27:20Z

[Term]
id: HP:0011182
name: Interictal epileptiform activity
def: "Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure." [HPO:probinson]
comment: Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm.
synonym: "Epileptiform EEG discharges" EXACT []
xref: UMLS:C4023491
is_a: HP:0025373 ! Interictal EEG abnormality
created_by: hecht
creation_date: 2011-11-19T10:32:25Z

[Term]
id: HP:0011183
name: EEG with hyperventilation-induced focal epileptiform discharges
def: "Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers]
xref: UMLS:C4023490
is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:36:34Z

[Term]
id: HP:0011184
name: EEG with hyperventilation-induced generalized epileptiform discharges
def: "Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers]
xref: UMLS:C4023489
is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:37:49Z

[Term]
id: HP:0011185
name: EEG with focal epileptiform discharges
alt_id: HP:0010840
def: "EEG discharges recorded in particular areas of the A localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers]
comment: Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing).
synonym: "Focal EEG Abnormality" EXACT []
xref: UMLS:C4021199
is_a: HP:0011182 ! Interictal epileptiform activity
created_by: hecht
creation_date: 2011-11-19T10:39:02Z

[Term]
id: HP:0011186
name: Focal epileptiform discharges with limited propagation to contralateral hemisphere
def: "Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization." [HPO:jalbers]
xref: UMLS:C4023488
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:40:22Z

[Term]
id: HP:0011187
name: Focal EEG discharges with propagation to ipsilateral hemisphere
def: "Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain." [HPO:jalbers]
xref: UMLS:C4023487
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:43:06Z

[Term]
id: HP:0011188
name: Focal EEG discharges with secondary generalization
def: "Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp." [HPO:jalbers]
xref: UMLS:C4023486
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:44:33Z

[Term]
id: HP:0011189
name: Bilateral multifocal epileptiform discharges
def: "Epileptiform discharges being identified at multiple locations in both hemispheres." [HPO:jalbers]
xref: UMLS:C4023485
is_a: HP:0010841 ! Multifocal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:47:23Z

[Term]
id: HP:0011190
name: Uni- and bilateral multifocal epileptiform discharges
def: "Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere." [HPO:jalbers]
xref: UMLS:C4023484
is_a: HP:0010841 ! Multifocal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:48:14Z

[Term]
id: HP:0011191
name: Unilateral multifocal epileptiform discharges
def: "Epileptiform discharges being identified at multiple locations in one hemisphere." [HPO:jalbers]
xref: UMLS:C4023483
is_a: HP:0010841 ! Multifocal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:48:51Z

[Term]
id: HP:0011192
name: Polymorphic focal epileptiform discharges
def: "Focal epileptiform discharges of different shapes and frequencies." [HPO:jalbers]
xref: UMLS:C4023482
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:49:45Z

[Term]
id: HP:0011193
name: EEG with focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec." [HPO:jalbers]
xref: UMLS:C4023481
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T10:50:36Z

[Term]
id: HP:0011194
name: EEG with series of focal spikes
def: "Focal spikes occurring for several seconds." [HPO:jalbers]
xref: UMLS:C4023480
is_a: HP:0011193 ! EEG with focal spikes
created_by: hecht
creation_date: 2011-11-19T10:51:41Z

[Term]
id: HP:0011195
name: EEG with focal sharp slow waves
def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023479
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T11:02:29Z

[Term]
id: HP:0011196
name: EEG with focal sharp waves
def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers]
xref: UMLS:C4023478
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T11:11:50Z

[Term]
id: HP:0011197
name: EEG with focal spike waves
def: "EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023477
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T11:12:45Z

[Term]
id: HP:0011198
name: EEG with generalized epileptiform discharges
alt_id: HP:0010842
def: "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy." [HPO:jalbers]
comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave.
xref: UMLS:C4023476
is_a: HP:0011182 ! Interictal epileptiform activity
created_by: hecht
creation_date: 2011-11-19T11:15:46Z

[Term]
id: HP:0011199
name: EEG with generalized sharp slow waves
def: "EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023475
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T11:17:38Z

[Term]
id: HP:0011200
name: EEG with generalized polymorphic epileptiform discharges
def: "Generalized epileptiform discharges of different shapes and frequencies." [HPO:jalbers]
xref: UMLS:C4023474
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
created_by: hecht
creation_date: 2011-11-19T11:19:04Z

[Term]
id: HP:0011201
name: EEG with changes in voltage
def: "EEG with abnormal amplitude." [HPO:jalbers]
xref: UMLS:C4023473
is_a: HP:0002353 ! EEG abnormality
created_by: hecht
creation_date: 2011-11-19T11:20:13Z

[Term]
id: HP:0011202
name: EEG with diffuse acceleration
def: "EEG frequency is abnormally increased." [HPO:probinson]
xref: UMLS:C4023472
is_a: HP:0002353 ! EEG abnormality
created_by: hecht
creation_date: 2011-11-19T11:23:55Z

[Term]
id: HP:0011203
name: EEG with abnormally slow frequencies
def: "EEG with abnormally slow frequencies." [HPO:jalbers]
xref: UMLS:C4023471
is_a: HP:0002353 ! EEG abnormality
created_by: hecht
creation_date: 2011-11-19T11:26:47Z

[Term]
id: HP:0011204
name: EEG with continuous slow activity
def: "EEG showing diffuse slowing without interruption." [HPO:jalbers]
xref: UMLS:C4023470
is_a: HP:0010845 ! EEG with generalized slow activity
created_by: hecht
creation_date: 2011-11-19T11:28:47Z

[Term]
id: HP:0011205
name: EEG with intermittent slow activity
def: "Non-continuous diffuse slowing of electroencephalographic patterns." [HPO:jalbers]
xref: UMLS:C4023469
is_a: HP:0010845 ! EEG with generalized slow activity
created_by: hecht
creation_date: 2011-11-19T11:30:20Z

[Term]
id: HP:0011206
name: EEG with generalized slow activity grade 1
def: "Slowing at frequencies between 7.5 and 8.5 Hz." [HPO:jalbers]
xref: UMLS:C4023468
is_a: HP:0010845 ! EEG with generalized slow activity
created_by: hecht
creation_date: 2011-11-19T11:31:28Z

[Term]
id: HP:0011207
name: EEG with generalized slow activity grade 2
def: "Generalized slowing of EEG activity at frequencies between 4-7 Hz." [HPO:jalbers]
xref: UMLS:C4023467
is_a: HP:0010845 ! EEG with generalized slow activity
created_by: peter
creation_date: 2011-11-19T12:42:03Z

[Term]
id: HP:0011208
name: EEG with generalized slow activity grade 3
def: "Generalized slowing of EEG activity at frequencies between 0.5-3 Hz." [HPO:jalbers]
xref: UMLS:C4023466
is_a: HP:0010845 ! EEG with generalized slow activity
created_by: peter
creation_date: 2011-11-19T12:44:11Z

[Term]
id: HP:0011209
name: EEG with generalized slow activity grade 4
def: "EEG without electrical activity." [HPO:jalbers]
synonym: "Flat line EEG" EXACT []
xref: UMLS:C4021198
is_a: HP:0010845 ! EEG with generalized slow activity
created_by: peter
creation_date: 2011-11-19T12:46:05Z

[Term]
id: HP:0011210
name: EEG with occipital slowing
def: "Slowing in occipital areas of the scalp EEG." [HPO:jalbers]
xref: UMLS:C4023465
is_a: HP:0010843 ! EEG with focal slow activity
created_by: peter
creation_date: 2011-11-19T12:55:32Z

[Term]
id: HP:0011211
name: EEG with photoparoxysmal response grade I
def: "Occurrence of epileptiform discharges in occipital regions during photic stimulation." [HPO:jalbers]
xref: UMLS:C4023464
is_a: HP:0010852 ! EEG with photoparoxysmal response
created_by: peter
creation_date: 2011-11-19T12:59:07Z

[Term]
id: HP:0011212
name: EEG with photoparoxysmal response grade II
def: "Occurence of epileptiform discharges in occipital and central regions during photic stimulation." [HPO:jalbers]
xref: UMLS:C4023463
is_a: HP:0010852 ! EEG with photoparoxysmal response
created_by: peter
creation_date: 2011-11-19T12:59:32Z

[Term]
id: HP:0011213
name: EEG with photoparoxysmal response grade III
def: "Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation." [HPO:jalbers]
xref: UMLS:C4023462
is_a: HP:0010852 ! EEG with photoparoxysmal response
created_by: peter
creation_date: 2011-11-19T12:59:57Z

[Term]
id: HP:0011214
name: EEG with photoparoxysmal response grade IV
def: "Occurrence of generalized epileptiform discharges during photic stimulation." [HPO:jalbers]
xref: UMLS:C4023461
is_a: HP:0010852 ! EEG with photoparoxysmal response
created_by: peter
creation_date: 2011-11-19T01:01:38Z

[Term]
id: HP:0011215
name: Hemihypsarrhythmia
def: "Hypsarrhythmia occurring in one hemisphere." [HPO:jalbers]
xref: UMLS:C4023460
is_a: HP:0011185 ! EEG with focal epileptiform discharges
created_by: peter
creation_date: 2011-11-29T07:42:18Z

[Term]
id: HP:0011217
name: Abnormal shape of the occiput
def: "An abnormal shape of occiput." [HPO:probinson]
synonym: "Abnormal shape of posterior cranium" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal shape of posterior head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal shape of posterior skull" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal shape of the back of the head" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal shape of the back of the skull" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023459
is_a: HP:0002648 ! Abnormality of calvarial morphology
created_by: peter
creation_date: 2011-12-03T10:14:06Z

[Term]
id: HP:0011218
name: Abnormal shape of the frontal region
def: "An abnormal shape of the frontal part of the head." [HPO:probinson]
synonym: "Abnormal morphology of the frontal region" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal shape of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Dysmorphic forehead" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Dysmorphic frontal region" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023458
is_a: HP:0002648 ! Abnormality of calvarial morphology
created_by: peter
creation_date: 2011-12-03T10:26:03Z

[Term]
id: HP:0011219
name: Short face
def: "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)." [pmid:19125436]
comment: Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face.
subset: hposlim_core
synonym: "Decreased height of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased length of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased vertical dimension of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Short face" EXACT layperson []
synonym: "Short facies" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical deficiency of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical Facial Deficiency" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical facial insufficiency" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical insufficiency of face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical shortening of face" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023457
is_a: HP:0000274 ! Small face
created_by: peter
creation_date: 2011-12-07T09:01:18Z

[Term]
id: HP:0011220
name: Prominent forehead
alt_id: HP:0200061
def: "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
comment: Not to be confused with frontal bossing.
subset: hposlim_core
synonym: "Bulging forehead" RELATED layperson []
synonym: "Prominence of frontal region" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent forehead" EXACT layperson []
synonym: "Pronounced forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Protruding forehead" EXACT layperson []
xref: UMLS:C1837260
xref: UMLS:C1867446
is_a: HP:0000290 ! Abnormality of the forehead
created_by: peter
creation_date: 2011-12-07T09:49:36Z

[Term]
id: HP:0011221
name: Vertical forehead creases
def: "Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest." [pmid:19125436]
subset: hposlim_core
synonym: "Frontal creases of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Vertical forehead creases" EXACT layperson []
synonym: "Vertical forehead rhytids" EXACT []
synonym: "Vertical forehead wrinkles" EXACT layperson []
xref: UMLS:C4023456
is_a: HP:0000290 ! Abnormality of the forehead
created_by: peter
creation_date: 2011-12-07T09:55:15Z

[Term]
id: HP:0011222
name: Depressed glabella
def: "Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges." [HPO:probinson, pmid:19125436]
comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.
synonym: "Concave glabella" EXACT []
synonym: "Deficiency of glabella" EXACT []
synonym: "Deficient area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flat area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flat glabella" EXACT []
synonym: "Hypoplasia of glabella" EXACT []
xref: UMLS:C4023455
is_a: HP:0002056 ! Abnormality of the glabella
created_by: peter
creation_date: 2011-12-07T10:03:30Z

[Term]
id: HP:0011223
name: Metopic depression
def: "Linear vertical groove in the midline of the forehead, extending from hairline to glabella." [pmid:19125436]
subset: hposlim_core
synonym: "Depression of frontal cranial suture" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Depression of metopic cranial suture" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Frontal suture depression" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023454
is_a: HP:0005556 ! Abnormality of the metopic suture
created_by: peter
creation_date: 2011-12-07T10:34:38Z

[Term]
id: HP:0011224
name: Ablepharon
alt_id: HP:0009925
def: "Absent eyelids." [pmid:19125427]
comment: In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful.
subset: hposlim_core
synonym: "Ablepharon of eyelid" EXACT []
synonym: "Absent eyelids" EXACT layperson []
synonym: "Agenesis of eyelids" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of the eyelids" RELATED []
synonym: "Missing eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:13401001
xref: SNOMEDCT_US:708541009
xref: UMLS:C0266574
xref: UMLS:C4020757
is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid
created_by: peter
creation_date: 2011-12-13T07:58:12Z

[Term]
id: HP:0011225
name: Epiblepharon
def: "Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva." [pmid:19125427]
comment: Epiblepharon should be distinguished from entropion.
subset: hposlim_core
xref: SNOMEDCT_US:253212001
xref: UMLS:C0344503
is_a: HP:0000492 ! Abnormal eyelid morphology
created_by: peter
creation_date: 2011-12-13T08:28:48Z

[Term]
id: HP:0011226
name: Aplasia/Hypoplasia of the eyelid
def: "Absence or underdevelopment of the eyelid." [HPO:probinson]
synonym: "Failure of development of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic eyelid" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023453
is_a: HP:0000492 ! Abnormal eyelid morphology
created_by: peter
creation_date: 2011-12-13T08:38:23Z

[Term]
id: HP:0011227
name: Elevated C-reactive protein level
def: "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson]
comment: C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation.
synonym: "Elevated CRP" RELATED []
xref: UMLS:C0742906
xref: UMLS:C4023452
is_a: HP:0032436 ! Abnormal C-reactive protein level
created_by: peter
creation_date: 2011-12-13T11:04:10Z

[Term]
id: HP:0011228
name: Horizontal eyebrow
def: "An eyebrow that extends straight across the brow, without curve." [pmid:19125427]
subset: hposlim_core
synonym: "Flat eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Horizontal eyebrow" EXACT layperson []
synonym: "Lack of eyebrow arch" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Lack of eyebrow curvature" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Straight eyebrow" EXACT layperson []
synonym: "Straight eyebrows" RELATED layperson [HPO:skoehler]
xref: UMLS:C3277019
is_a: HP:0000534 ! Abnormal eyebrow morphology
created_by: peter
creation_date: 2011-12-14T08:18:29Z

[Term]
id: HP:0011229
name: Broad eyebrow
def: "Regional increase in the width (height) of the eyebrow." [pmid:19125427]
comment: Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs.
subset: hposlim_core
synonym: "Broad eyebrow" EXACT layperson []
synonym: "Broad eyebrows" EXACT layperson [HPO:skoehler]
synonym: "Flared eyebrow" EXACT layperson []
synonym: "Flared eyebrows" RELATED layperson [HPO:skoehler]
synonym: "Increased vertical height of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased vertical thickness of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased vertical width of eyebrow" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856121
is_a: HP:0000534 ! Abnormal eyebrow morphology
created_by: peter
creation_date: 2011-12-14T08:21:26Z

[Term]
id: HP:0011230
name: Laterally extended eyebrow
def: "An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location." [pmid:19125427]
comment: The degree of extension beyond the obital rim that is considered abnormal has not been established.
synonym: "Increased lateral length of eyebrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Laterally elongated eyebrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Laterally extended eyebrows" EXACT layperson []
xref: UMLS:C4023451
is_a: HP:0000534 ! Abnormal eyebrow morphology
created_by: peter
creation_date: 2011-12-14T08:27:22Z

[Term]
id: HP:0011231
name: Prominent eyelashes
def: "Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly." [pmid:19125427]
synonym: "Prominent eyelashes" EXACT layperson []
synonym: "Thick eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1835802
xref: UMLS:C4023450
is_a: HP:0000499 ! Abnormal eyelash morphology
created_by: peter
creation_date: 2011-12-14T08:31:24Z

[Term]
id: HP:0011232
name: Infra-orbital fold
def: "Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge." [pmid:19125427]
comment: This term excludes epicanthus inversus.
subset: hposlim_core
synonym: "Dennie-Morgan fold" RELATED []
synonym: "Infraorbital fold" EXACT []
xref: UMLS:C4023449
is_a: HP:0000606 ! Abnormality of the periorbital region
created_by: peter
creation_date: 2011-12-14T07:00:48Z

[Term]
id: HP:0011233
name: Antihelical shelf
def: "Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha." [pmid:19152421]
comment: In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix.
synonym: "Conchal shelf" EXACT []
xref: UMLS:C4021197
is_a: HP:0009738 ! Abnormality of the antihelix
created_by: peter
creation_date: 2011-12-15T07:03:37Z

[Term]
id: HP:0011234
name: Absent antihelix
def: "No discernible ridge between concha and triangular fossa and helix." [HPO:19152421]
comment: This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix.
xref: UMLS:C4023448
is_a: HP:0009738 ! Abnormality of the antihelix
created_by: peter
creation_date: 2011-12-15T07:09:03Z

[Term]
id: HP:0011235
name: Additional crus of antihelix
def: "Supernumerary ridge or crus of the ear arising from the antihelix." [pmid:19152421]
comment: The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear.
xref: UMLS:C4023447
is_a: HP:0009738 ! Abnormality of the antihelix
created_by: peter
creation_date: 2011-12-15T07:16:54Z

[Term]
id: HP:0011236
name: Angulated antihelix
def: "Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc." [pmid:19152421]
xref: UMLS:C4023446
is_a: HP:0009738 ! Abnormality of the antihelix
created_by: peter
creation_date: 2011-12-18T10:42:17Z

[Term]
id: HP:0011237
name: Broad inferior crus of antihelix
def: "Increased width of the inferred cross-section of the inferior crus." [pmid:19152421]
comment: This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile.
synonym: "Antihelix, inferior crus, broad" EXACT []
xref: UMLS:C4021196
is_a: HP:0011243 ! Abnormality of inferior crus of antihelix
created_by: peter
creation_date: 2011-12-18T10:46:34Z

[Term]
id: HP:0011238
name: Prominent inferior crus of antihelix
def: "Increased protrusion of the inferior crus relative to the prominence of the antihelix stem." [HPO:19152421]
synonym: "Antihelix, inferior crus, prominent" EXACT []
synonym: "Hyperplastic inferior crus of antihelix" EXACT []
synonym: "Hypertrophic inferior crus of antihelix" EXACT []
xref: UMLS:C4021195
is_a: HP:0011243 ! Abnormality of inferior crus of antihelix
created_by: peter
creation_date: 2011-12-18T11:24:43Z

[Term]
id: HP:0011239
name: Underdeveloped inferior crus of antihelix
def: "Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem." [pmid:19152421]
comment: This finding is highly variable.
synonym: "Antihelix, inferior crus, underdeveloped" EXACT []
synonym: "Hypoplastic inferior crus of antihelix" EXACT []
synonym: "Hypotrophic inferior crus of antihelix" EXACT []
xref: UMLS:C4021194
is_a: HP:0011243 ! Abnormality of inferior crus of antihelix
created_by: peter
creation_date: 2011-12-18T11:27:15Z

[Term]
id: HP:0011240
name: Prominent stem of antihelix
def: "Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix." [pmid:19152421]
comment: This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear.
synonym: "Hyperplastic antihelix stem" EXACT []
synonym: "Hypertrophic antihelix stem" EXACT []
xref: UMLS:C4020910
is_a: HP:0011244 ! Abnormality of stem of antihelix
created_by: peter
creation_date: 2011-12-18T11:32:08Z

[Term]
id: HP:0011241
name: Serpiginous stem of antihelix
def: "Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha." [pmid:19152421]
synonym: "Antihelix, stem, serpiginous" EXACT []
xref: UMLS:C4021193
is_a: HP:0011244 ! Abnormality of stem of antihelix
created_by: peter
creation_date: 2011-12-18T11:35:53Z

[Term]
id: HP:0011242
name: Underdeveloped stem of antihelix
def: "Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix." [pmid:19152421]
comment: The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear.
synonym: "Antihelix, stem, underdeveloped" EXACT []
xref: UMLS:C4021192
is_a: HP:0011244 ! Abnormality of stem of antihelix
created_by: peter
creation_date: 2011-12-18T11:38:15Z

[Term]
id: HP:0011243
name: Abnormality of inferior crus of antihelix
def: "An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [HPO:probinson, pmid:19152421]
comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix.
synonym: "Abnormality of anterior crus of antihelix" EXACT []
xref: UMLS:C4021191
is_a: HP:0009738 ! Abnormality of the antihelix
created_by: peter
creation_date: 2011-12-18T11:41:44Z

[Term]
id: HP:0011244
name: Abnormality of stem of antihelix
def: "An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura." [HPO:probinson]
xref: UMLS:C4023445
is_a: HP:0009738 ! Abnormality of the antihelix
created_by: peter
creation_date: 2011-12-18T11:50:01Z

[Term]
id: HP:0011245
name: Abnormality of superior crus of antihelix
def: "An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [HPO:probinson, pmid:19152421]
comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix.
synonym: "Abnormality of posterior crus of antihelix" EXACT []
xref: UMLS:C4021190
is_a: HP:0009738 ! Abnormality of the antihelix
created_by: peter
creation_date: 2011-12-18T11:52:06Z

[Term]
id: HP:0011246
name: Underdeveloped superior crus of antihelix
def: "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [pmid:19152421]
comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately.
synonym: "Hypoplastic superior crus of antihelix" EXACT []
synonym: "Hypotrophic superior crus of antihelix" EXACT []
xref: UMLS:C4021189
is_a: HP:0011245 ! Abnormality of superior crus of antihelix
created_by: peter
creation_date: 2011-12-18T12:00:18Z

[Term]
id: HP:0011247
name: Prominent superior crus of antihelix
def: "Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [pmid:19152421]
comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately.
synonym: "Hyperplastic superior crus of antihelix" EXACT []
synonym: "Hypertrophic superior crus of antihelix" EXACT []
xref: UMLS:C4021188
is_a: HP:0011245 ! Abnormality of superior crus of antihelix
created_by: peter
creation_date: 2011-12-18T12:02:57Z

[Term]
id: HP:0011248
name: Everted antitragus
def: "Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear)." [pmid:19152421]
xref: UMLS:C4023444
is_a: HP:0009896 ! Abnormality of the antitragus
created_by: peter
creation_date: 2011-12-18T12:11:37Z

[Term]
id: HP:0011249
name: Absent antitragus
def: "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [pmid:19152421]
comment: The size of the antitragus is highly variable.
xref: UMLS:C4023443
is_a: HP:0009896 ! Abnormality of the antitragus
created_by: peter
creation_date: 2011-12-18T12:13:00Z

[Term]
id: HP:0011250
name: Bifid antitragus
def: "Double rather than single peak of the antitragus." [pmid:19152421]
synonym: "Double antitragus" EXACT []
xref: UMLS:C4021187
is_a: HP:0009896 ! Abnormality of the antitragus
created_by: peter
creation_date: 2011-12-18T12:14:26Z

[Term]
id: HP:0011251
name: Underdeveloped antitragus
def: "Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [HPO:probinson, pmid:19152421]
synonym: "Hypoplastic antitragus" EXACT []
synonym: "Hypotrophic antitragus" EXACT []
synonym: "Small antitragus" EXACT []
xref: UMLS:C4021186
is_a: HP:0009896 ! Abnormality of the antitragus
created_by: peter
creation_date: 2011-12-18T01:59:04Z

[Term]
id: HP:0011252
name: Cryptotia
def: "Invagination of the superior part of the auricle under a fold of temporal skin." [pmid:19152421]
comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected.
subset: hposlim_core
synonym: "Buried ear" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hidden ear" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:429967001
xref: UMLS:C2315717
is_a: HP:0000377 ! Abnormality of the pinna
created_by: peter
creation_date: 2011-12-18T02:12:10Z

[Term]
id: HP:0011253
name: Type I cryptotia
def: "A type of cryptotia associated with reduction in size of the antihelix and superior crus." [HPO:probinson]
synonym: "Type 1 cryptotia" EXACT []
xref: UMLS:C4023442
is_a: HP:0011252 ! Cryptotia
created_by: peter
creation_date: 2011-12-18T02:14:49Z

[Term]
id: HP:0011254
name: Type II cryptotia
def: "A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected." [HPO:probinson]
synonym: "Type 2 cryptotia" EXACT []
xref: UMLS:C4023441
is_a: HP:0011252 ! Cryptotia
created_by: peter
creation_date: 2011-12-18T02:15:48Z

[Term]
id: HP:0011255
name: Absent crus of helix
def: "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha." [pmid:19152421]
synonym: "Helix, crus, absent" EXACT []
xref: UMLS:C4021185
is_a: HP:0009895 ! Abnormality of the crus of the helix
created_by: peter
creation_date: 2011-12-18T05:50:59Z

[Term]
id: HP:0011256
name: Crus of helix connected to antihelix
def: "Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix." [pmid:19152421]
synonym: "Helix, crus, connected to antihelix" EXACT []
xref: UMLS:C4021184
is_a: HP:0009895 ! Abnormality of the crus of the helix
created_by: peter
creation_date: 2011-12-18T05:51:54Z

[Term]
id: HP:0011257
name: Serpiginous crus of helix
def: "Curving course of the crus of the helix, approaching or joining the antitragus." [pmid:19152421]
synonym: "Helix, crus, serpiginous" EXACT []
xref: UMLS:C4021183
is_a: HP:0009895 ! Abnormality of the crus of the helix
created_by: peter
creation_date: 2011-12-18T05:56:25Z

[Term]
id: HP:0011258
name: Tragal bridge of crus of helix
def: "The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix." [pmid:19152421]
synonym: "Helix, crus, tragal bridge" EXACT []
xref: UMLS:C4021182
is_a: HP:0009895 ! Abnormality of the crus of the helix
created_by: peter
creation_date: 2011-12-18T05:58:24Z

[Term]
id: HP:0011259
name: Expanded terminal portion of crus of helix
def: "Widening, rather than tapering, of the crus at its posterior border near the antihelix." [pmid:19152421]
synonym: "Helix, crus, expanded terminal portion" EXACT []
xref: UMLS:C4021181
is_a: HP:0009895 ! Abnormality of the crus of the helix
created_by: peter
creation_date: 2011-12-18T06:00:07Z

[Term]
id: HP:0011260
name: Darwin notch of helix
def: "Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix." [pmid:19152421]
synonym: "Helix, Darwin notch" EXACT []
xref: UMLS:C4021180
is_a: HP:0009902 ! Cleft helix
created_by: peter
creation_date: 2011-12-18T06:01:45Z

[Term]
id: HP:0011261
name: Darwin tubercle of helix
def: "Small expansion of the helical fold at the junction of the superior and descending portions of the helix." [pmid:19152421]
synonym: "Helix, Darwin tubercle" EXACT []
xref: UMLS:C4021179
is_a: HP:0011039 ! Abnormality of the helix
created_by: peter
creation_date: 2011-12-18T06:02:42Z

[Term]
id: HP:0011262
name: Crimped helix
def: "Linear, circumferential indentation in the convexity of the outer surface of the helix." [pmid:19152421]
comment: The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix.
synonym: "Helix, crimped" EXACT []
synonym: "Indented helix" EXACT []
xref: UMLS:C4021178
is_a: HP:0011039 ! Abnormality of the helix
created_by: peter
creation_date: 2011-12-18T06:19:33Z

[Term]
id: HP:0011263
name: Forward facing earlobe
def: "Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear." [HPO:probinson, pmid:19152421]
comment: The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe.
synonym: "Forward facing earlobe" EXACT layperson []
synonym: "Lobe, forward facing" EXACT layperson []
xref: UMLS:C4021177
is_a: HP:0000363 ! Abnormality of earlobe
created_by: peter
creation_date: 2011-12-18T06:50:34Z

[Term]
id: HP:0011264
name: Discontinuous ascending root of helix
def: "Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid." [pmid:19152421]
synonym: "Helix, discontinuous ascending root" EXACT []
xref: UMLS:C4021176
is_a: HP:0011039 ! Abnormality of the helix
created_by: peter
creation_date: 2011-12-18T07:31:00Z

[Term]
id: HP:0011265
name: Cleft earlobe
def: "Discontinuity in the convexity of the inferior margin of the lobe." [pmid:19152421]
comment: The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished.
subset: hposlim_core
synonym: "Cleft earlobe" EXACT layperson []
xref: UMLS:C4023440
is_a: HP:0000363 ! Abnormality of earlobe
created_by: peter
creation_date: 2011-12-18T07:39:52Z

[Term]
id: HP:0011266
name: Microtia, first degree
alt_id: HP:0000379
def: "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean." [pmid:19152421]
synonym: "First-degree microtia" EXACT []
xref: UMLS:C4021175
is_a: HP:0008551 ! Microtia
created_by: peter
creation_date: 2011-12-18T07:44:51Z

[Term]
id: HP:0011267
name: Microtia, third degree
def: "Presence of some auricular structures, but none of these structures conform to recognized ear components." [pmid:19152421]
comment: This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia.
synonym: "Abnormal shape/structure of ear" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Third-degree microtia" EXACT []
xref: UMLS:C4021174
xref: UMLS:C4280331
is_a: HP:0008551 ! Microtia
created_by: peter
creation_date: 2011-12-18T07:49:49Z

[Term]
id: HP:0011268
name: Absent tragus
def: "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix." [pmid:19152421]
comment: This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately.
subset: hposlim_core
xref: UMLS:C4023439
is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus
created_by: peter
creation_date: 2011-12-18T07:55:39Z

[Term]
id: HP:0011269
name: Bifid tragus
def: "Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak." [pmid:19152421]
synonym: "Notched tragus" EXACT layperson []
synonym: "Tragus, bifid" EXACT []
xref: UMLS:C4021173
is_a: HP:0009912 ! Abnormality of the tragus
created_by: peter
creation_date: 2011-12-18T07:56:56Z

[Term]
id: HP:0011270
name: Duplicated tragus
def: "A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus." [pmid:19152421]
comment: It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin.
synonym: "Accesory tragus" EXACT []
synonym: "Tragus, duplicated" EXACT []
xref: UMLS:C4021172
is_a: HP:0009912 ! Abnormality of the tragus
created_by: peter
creation_date: 2011-12-18T07:58:04Z

[Term]
id: HP:0011271
name: Prominent tragus
def: "Increase posterolateral protrusion of the tragus." [pmid:19152421]
subset: hposlim_core
synonym: "Enlarged tragus" EXACT [HPO:skoehler]
synonym: "Hyperplastic tragus" EXACT [HPO:skoehler]
synonym: "Hypertrophic tragus" EXACT [HPO:skoehler]
synonym: "Large tragus" EXACT [HPO:skoehler]
synonym: "Tragus, prominent" EXACT [HPO:skoehler]
xref: UMLS:C4021171
is_a: HP:0009912 ! Abnormality of the tragus
creation_date: 2011-12-18T07:59:22Z

[Term]
id: HP:0011272
name: Underdeveloped tragus
def: "Decreased posterolateral protrusion of the tragus." [pmid:19152421]
synonym: "Hypoplastic tragus" EXACT []
synonym: "Hypotrophic tragus" EXACT []
synonym: "Small tragus" EXACT []
xref: UMLS:C4013429
is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus
created_by: peter
creation_date: 2011-12-18T08:01:33Z

[Term]
id: HP:0011273
name: Anisocytosis
def: "Abnormally increased variability in the size of erythrocytes." [HPO:probinson]
synonym: "Unequal size of red blood cells" EXACT layperson [https://en.wikipedia.org/wiki/anisocytosis, ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:165475005
xref: SNOMEDCT_US:57241006
xref: UMLS:C0221278
is_a: HP:0001877 ! Abnormal erythrocyte morphology
created_by: peter
creation_date: 2011-12-28T11:58:24Z

[Term]
id: HP:0011274
name: Recurrent mycobacterial infections
def: "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson]
comment: Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics.
xref: UMLS:C4023438
is_a: HP:0002718 ! Recurrent bacterial infections
created_by: peter
creation_date: 2011-12-28T12:11:54Z

[Term]
id: HP:0011275
name: Recurrent mycobacterium avium complex infections
def: "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson]
comment: Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection.
xref: UMLS:C1737260
is_a: HP:0011274 ! Recurrent mycobacterial infections
created_by: peter
creation_date: 2011-12-28T12:16:46Z

[Term]
id: HP:0011276
name: Vascular skin abnormality
synonym: "Skin vascular malformation" EXACT []
synonym: "Vascular abnormalities restricted to skin" RELATED [HPO:skoehler]
xref: MSH:D017445
xref: SNOMEDCT_US:11263005
xref: UMLS:C0162819
xref: UMLS:C1842892
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0011354 ! Generalized abnormality of skin
created_by: peter
creation_date: 2011-12-29T08:52:53Z

[Term]
id: HP:0011277
name: Abnormality of the urinary system physiology
xref: UMLS:C4023437
is_a: HP:0000079 ! Abnormality of the urinary system
created_by: peter
creation_date: 2011-12-30T02:51:16Z

[Term]
id: HP:0011278
name: Intrapulmonary sequestration
def: "A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree." [HPO:probinson]
xref: UMLS:C4023436
is_a: HP:0100632 ! Pulmonary sequestration
created_by: peter
creation_date: 2011-12-31T07:43:28Z

[Term]
id: HP:0011279
name: Abnormality of urine bicarbonate concentration
def: "An abnormality of the concentration of hydrogencarbonate in the urine." [HPO:probinson]
synonym: "Abnormality of urine HCO3 concentration" EXACT HP:0045077 []
xref: UMLS:C4023435
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2011-12-30T02:57:55Z

[Term]
id: HP:0011280
name: Abnormality of urine calcium concentration
def: "An abnormality of calcium concentration in the urine." [HPO:probinson]
synonym: "Abnormality of urine Ca concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormality of urine Ca2+ concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4023434
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
created_by: peter
creation_date: 2011-12-30T03:27:02Z

[Term]
id: HP:0011281
name: Abnormality of urine catecholamine concentration
def: "An abnormal level of urinary catecholamine concentration." [HPO:probinson]
comment: Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine.
xref: MP:0011478
xref: UMLS:C4023433
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2011-12-30T03:35:18Z

[Term]
id: HP:0011282
name: Abnormality of hindbrain morphology
def: "An abnormality of the hindbrain, also known as the rhombencephalon." [HPO:probinson]
comment: The hindbrain consists of two main structures: The pons and the cerebellum.
synonym: "Abnormal shape of hindbrain" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the hindbrain" EXACT []
xref: UMLS:C4021170
is_a: HP:0012443 ! Abnormality of brain morphology
created_by: peter
creation_date: 2012-01-01T01:22:36Z

[Term]
id: HP:0011283
name: Abnormality of the metencephalon
def: "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum." [HPO:probinson]
xref: UMLS:C4023432
is_a: HP:0011282 ! Abnormality of hindbrain morphology
created_by: peter
creation_date: 2012-01-01T01:24:14Z

[Term]
id: HP:0011284
name: Short-segment aganglionic megacolon
def: "A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid." [HPO:probinson, pmid:17965226]
xref: UMLS:C4023431
is_a: HP:0002251 ! Aganglionic megacolon
created_by: peter
creation_date: 2012-01-01T02:59:57Z

[Term]
id: HP:0011285
name: Long-segment aganglionic megacolon
def: "A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid." [HPO:probinson]
xref: UMLS:C4023430
is_a: HP:0002251 ! Aganglionic megacolon
created_by: peter
creation_date: 2012-01-01T03:02:49Z

[Term]
id: HP:0011286
name: Total colonic aganglionosis
def: "A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon." [HPO:probinson]
xref: MSH:D006627
xref: SNOMEDCT_US:253780003
xref: SNOMEDCT_US:360441005
xref: UMLS:C0085758
is_a: HP:0002251 ! Aganglionic megacolon
created_by: peter
creation_date: 2012-01-01T03:03:46Z

[Term]
id: HP:0011287
name: EEG with occipital sharp slow waves
def: "EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023429
is_a: HP:0011195 ! EEG with focal sharp slow waves
created_by: peter
creation_date: 2012-02-11T12:28:45Z

[Term]
id: HP:0011288
name: EEG with parietal sharp slow waves
def: "EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023428
is_a: HP:0011195 ! EEG with focal sharp slow waves
created_by: peter
creation_date: 2012-02-11T12:29:59Z

[Term]
id: HP:0011289
name: EEG with temporal sharp slow waves
def: "EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023427
is_a: HP:0011195 ! EEG with focal sharp slow waves
created_by: peter
creation_date: 2012-02-11T12:30:25Z

[Term]
id: HP:0011290
name: EEG with frontal sharp slow waves
def: "EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023426
is_a: HP:0011195 ! EEG with focal sharp slow waves
created_by: peter
creation_date: 2012-02-11T12:30:41Z

[Term]
id: HP:0011291
name: EEG with central sharp slow waves
def: "EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023425
is_a: HP:0011195 ! EEG with focal sharp slow waves
created_by: peter
creation_date: 2012-02-11T12:31:02Z

[Term]
id: HP:0011292
name: EEG with occipital sharp waves
def: "EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers]
xref: UMLS:C2206521
is_a: HP:0011196 ! EEG with focal sharp waves
created_by: peter
creation_date: 2012-02-11T12:31:29Z

[Term]
id: HP:0011293
name: EEG with central sharp waves
def: "EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers]
xref: UMLS:C2207327
is_a: HP:0011196 ! EEG with focal sharp waves
created_by: peter
creation_date: 2012-02-11T12:32:48Z

[Term]
id: HP:0011294
name: EEG with frontal sharp waves
def: "EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers]
xref: UMLS:C2206518
is_a: HP:0011196 ! EEG with focal sharp waves
created_by: peter
creation_date: 2012-02-11T12:33:10Z

[Term]
id: HP:0011295
name: EEG with parietal sharp waves
def: "EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers]
xref: UMLS:C2206520
is_a: HP:0011196 ! EEG with focal sharp waves
created_by: peter
creation_date: 2012-02-11T12:33:29Z

[Term]
id: HP:0011296
name: EEG with temporal sharp waves
def: "EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers]
xref: UMLS:C2206519
is_a: HP:0011196 ! EEG with focal sharp waves
created_by: peter
creation_date: 2012-02-11T12:33:47Z

[Term]
id: HP:0011297
name: Abnormal digit morphology
def: "A morphological abnormality of a digit, i.e., of a finger or toe." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of digit" EXACT []
synonym: "Abnormality of fingers or toes" EXACT layperson []
synonym: "Digital anomalies" EXACT []
xref: UMLS:C3550704
is_a: HP:0002813 ! Abnormality of limb bone morphology
created_by: peter
creation_date: 2012-02-11T07:16:22Z

[Term]
id: HP:0011298
name: Prominent digit pad
def: "A soft tissue prominence of the ventral aspects of the fingertips or toe tips." [pmid:19125433]
comment: The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known.
synonym: "Prominent digit pad" EXACT layperson []
xref: UMLS:C4023424
is_a: HP:0011356 ! Regional abnormality of skin
created_by: peter
creation_date: 2012-02-11T07:18:29Z

[Term]
id: HP:0011299
name: Partial absence of finger
def: "The absence of a phalangeal segment of a finger." [pmid:19125433]
comment: The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers.
subset: hposlim_core
synonym: "Partial absence of finger" EXACT layperson []
xref: UMLS:C4023423
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: hecht
creation_date: 2012-02-11T10:57:07Z

[Term]
id: HP:0011300
name: Broad fingertip
def: "Increased width of the distal segment of a finger." [pmid:19125433]
comment: This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad.
subset: hposlim_core
synonym: "Broad fingertip" EXACT layperson []
synonym: "Broad fingertips" EXACT layperson [HPO:skoehler]
xref: UMLS:C1968816
is_a: HP:0001211 ! Abnormal fingertip morphology
created_by: hecht
creation_date: 2012-02-11T11:18:08Z

[Term]
id: HP:0011301
name: Absent foot
def: "The total absence of the foot, with no bony elements distal to the tibia or fibula." [pmid:19125433]
subset: hposlim_core
synonym: "Absent foot" EXACT layperson []
synonym: "Aplasia of the foot" EXACT []
synonym: "Apodia" EXACT []
xref: SNOMEDCT_US:371197005
xref: UMLS:C0265624
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet
created_by: hecht
creation_date: 2012-02-11T11:20:59Z

[Term]
id: HP:0011302
name: Long palm
alt_id: HP:0001502
def: "For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length." [pmid:19125433]
subset: hposlim_core
synonym: "Long palm" EXACT layperson []
xref: UMLS:C4023422
is_a: HP:0100871 ! Abnormality of the palm
created_by: hecht
creation_date: 2012-02-12T10:20:56Z

[Term]
id: HP:0011303
name: Convex contour of sole
def: "The contour of the foot in lateral profile has a convex shape." [pmid:19125433]
comment: This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot.
xref: UMLS:C4023421
is_a: HP:0100872 ! Abnormality of the plantar skin of foot
created_by: hecht
creation_date: 2012-02-12T11:06:12Z

[Term]
id: HP:0011304
name: Broad thumb
alt_id: HP:0001173
alt_id: HP:0001240
alt_id: HP:0004073
alt_id: HP:0009651
def: "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433]
comment: Note that this term should not be used for thumbs that meet the definition for Macrodactyly.
subset: hposlim_core
synonym: "Broad phalanges of the thumb" EXACT []
synonym: "Broad thumb" EXACT layperson []
synonym: "Broad thumbs" EXACT layperson []
synonym: "Wide/broad thumb" EXACT layperson []
synonym: "Wide/broad thumb phalanges" EXACT []
xref: SNOMEDCT_US:249773003
xref: UMLS:C0426891
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0009768 ! Broad phalanges of the hand
created_by: hecht
creation_date: 2012-02-12T11:15:31Z

[Term]
id: HP:0011305
name: Partial absence of toe
def: "The absence of a phalangeal segment of a toe or hallux." [pmid:19125433]
comment: The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe.
synonym: "Hypophalangy of toes" EXACT []
synonym: "Partial absence of toe" EXACT layperson []
xref: UMLS:C4021169
is_a: HP:0010760 ! Absent toe
created_by: hecht
creation_date: 2012-02-12T12:20:32Z

[Term]
id: HP:0011307
name: Splayed toes
def: "Divergence of digits along the anteroposterior axis (in the plane of the sole)." [pmid:19125433]
synonym: "Splayed toes" EXACT layperson []
xref: UMLS:C2117390
is_a: HP:0001780 ! Abnormality of toe
created_by: hecht
creation_date: 2012-02-12T12:38:36Z

[Term]
id: HP:0011308
name: Slender toe
alt_id: HP:0200091
def: "Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [pmid:19125433]
synonym: "Narrow toe" EXACT layperson []
synonym: "Slender toe" EXACT layperson []
xref: UMLS:C4021168
is_a: HP:0001780 ! Abnormality of toe
created_by: hecht
creation_date: 2012-02-12T12:39:51Z

[Term]
id: HP:0011309
name: Tapered toe
alt_id: HP:0008088
alt_id: HP:0200089
def: "The gradual reduction in girth of the toe from proximal to distal." [pmid:19125433]
synonym: "Tapered toe" EXACT layperson []
synonym: "Tapering toes" EXACT layperson []
xref: UMLS:C4021167
is_a: HP:0001780 ! Abnormality of toe
created_by: hecht
creation_date: 2012-02-12T12:41:30Z

[Term]
id: HP:0011310
name: Bridged palmar crease
def: "A crease that connects the proximal and distal transverse palmar creases." [pmid:19125433]
comment: The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation.
synonym: "Bridged palm line" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Transitional palmar crease" EXACT []
xref: UMLS:C4021166
is_a: HP:0010490 ! Abnormality of the palmar creases
created_by: hecht
creation_date: 2012-02-12T12:56:40Z

[Term]
id: HP:0011311
name: Sydney crease
def: "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm." [pmid:19125433]
comment: The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm.
xref: UMLS:C4023420
is_a: HP:0010490 ! Abnormality of the palmar creases
created_by: hecht
creation_date: 2012-02-12T12:58:13Z

[Term]
id: HP:0011312
name: Fused nails
def: "A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature." [pmid:19125433]
comment: The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately.
synonym: "Fused nails" EXACT layperson []
xref: UMLS:C4023419
is_a: HP:0002164 ! Nail dysplasia
created_by: hecht
creation_date: 2012-02-12T01:12:22Z

[Term]
id: HP:0011313
name: Narrow nail
alt_id: HP:0200076
def: "Decreased width of nail." [pmid:19125433]
synonym: "Narrow nail" EXACT layperson []
xref: UMLS:C4021829
is_a: HP:0002164 ! Nail dysplasia
created_by: hecht
creation_date: 2012-02-12T01:33:34Z

[Term]
id: HP:0011314
name: Abnormality of long bone morphology
alt_id: HP:0100713
alt_id: HP:0100714
alt_id: HP:0100715
def: "An abnormality of size or shape of the long bones." [HPO:probinson]
synonym: "Abnormal shape of long bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the tubular bones" EXACT []
xref: UMLS:C4021165
is_a: HP:0011844 ! Abnormal appendicular skeleton morphology
created_by: hecht
creation_date: 2012-02-12T02:31:03Z

[Term]
id: HP:0011315
name: Unicoronal synostosis
def: "Synostosis affecting only one of the coronal sutures." [DDD:awilkie]
synonym: "Unilateral coronal craniosynostosis" RELATED []
synonym: "Unilateral coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unilateral coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4020756
xref: UMLS:C4023418
is_a: HP:0004440 ! Coronal craniosynostosis
created_by: peter
creation_date: 2012-02-25T01:08:28Z

[Term]
id: HP:0011316
name: Left unicoronal synostosis
def: "Synostosis affecting only the left coronal suture." [DDD:awilkie]
xref: UMLS:C4023417
is_a: HP:0011315 ! Unicoronal synostosis
created_by: peter
creation_date: 2012-02-25T01:10:32Z

[Term]
id: HP:0011317
name: Right unicoronal synostosis
def: "Unicoronal synostosis affecting only the right coronal suture." [DDD:awilkie]
xref: UMLS:C4023416
is_a: HP:0011315 ! Unicoronal synostosis
created_by: peter
creation_date: 2012-02-25T01:11:21Z

[Term]
id: HP:0011318
name: Bicoronal synostosis
def: "Synostosis affecting the right and the left coronal suture." [DDD:awilkie]
subset: hposlim_core
synonym: "Bilateral coronal craniosynostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Bilateral coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Bilateral coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021164
is_a: HP:0004440 ! Coronal craniosynostosis
created_by: peter
creation_date: 2012-02-25T01:11:41Z

[Term]
id: HP:0011319
name: Bilambdoid synostosis
def: "Premature synostosis of both lambdoid sutures." [DDD:awilkie]
subset: hposlim_core
synonym: "Bilateral lambdoid craniosynostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Bilateral lambdoid suture synostosis" EXACT []
xref: UMLS:C4021163
is_a: HP:0004443 ! Lambdoidal craniosynostosis
created_by: peter
creation_date: 2012-02-25T01:12:22Z

[Term]
id: HP:0011320
name: Unilambdoid synostosis
def: "Premature synostosis of only one lambdoid suture." [DDD:awilkie]
subset: hposlim_core
synonym: "Unilateral lambdoid craniosynostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unilateral lambdoid suture synostosis" EXACT []
xref: UMLS:C4021162
is_a: HP:0004443 ! Lambdoidal craniosynostosis
created_by: peter
creation_date: 2012-02-25T01:13:20Z

[Term]
id: HP:0011321
name: Left unilambdoid synostosis
def: "Premature synostosis of only the left lambdoid suture." [DDD:awilkie]
xref: UMLS:C4023415
is_a: HP:0011320 ! Unilambdoid synostosis
created_by: peter
creation_date: 2012-02-25T01:13:46Z

[Term]
id: HP:0011322
name: Right unilambdoid synostosis
def: "Premature synostosis of only the right lambdoid suture." [DDD:awilkie]
xref: UMLS:C4023414
is_a: HP:0011320 ! Unilambdoid synostosis
created_by: peter
creation_date: 2012-02-25T01:14:34Z

[Term]
id: HP:0011323
name: Cleft of chin
def: "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin." [DDD:jclayton-smith]
synonym: "Cleft of chin" EXACT layperson []
synonym: "Midline defect of chin" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1849227
is_a: HP:0000306 ! Abnormality of the chin
created_by: peter
creation_date: 2012-02-25T05:17:03Z

[Term]
id: HP:0011324
name: Multiple suture craniosynostosis
def: "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified." [DDD:awilkie]
comment: If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available.
synonym: "Multisutural craniosynostosis" EXACT []
xref: UMLS:C4021161
is_a: HP:0001363 ! Craniosynostosis
created_by: peter
creation_date: 2012-02-25T01:16:13Z

[Term]
id: HP:0011325
name: Pansynostosis
def: "Craniosynostosis of all calvarial sutures." [DDD:awilkie]
synonym: "Sysnostosis of all cranial sutures" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021827
is_a: HP:0011324 ! Multiple suture craniosynostosis
created_by: peter
creation_date: 2012-02-25T01:27:38Z

[Term]
id: HP:0011326
name: Anterior plagiocephaly
def: "Asymmetry of the anterior part of the skull." [DDD:awilkie]
comment: Anterior plagiocephaly may have synostotic or non-synostotic causes.
synonym: "Anterior flat head syndrome" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Coronal synostosis" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Deformational anterior plagiocephaly" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformational frontal plagiocephaly" EXACT [HPO:skoehler]
synonym: "Frontal plagiocephaly" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Positional anterior plagiocephaly" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Positional frontal plagiocephaly" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Unicoronal craniosynostosis" RELATED [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:254020001
xref: UMLS:C0432124
xref: UMLS:C4023413
xref: UMLS:C4280328
xref: UMLS:C4280329
xref: UMLS:C4280330
is_a: HP:0001357 ! Plagiocephaly
created_by: peter
creation_date: 2012-02-25T02:10:41Z

[Term]
id: HP:0011327
name: Posterior plagiocephaly
def: "Asymmetry of the posterior part of the skull." [DDD:awilkie, pmid:10876272]
comment: Anterior plagiocephaly may have synostotic or non-synostotic causes.
synonym: "Deformational posterior plagiocephaly" EXACT [HPO:skoehler]
synonym: "Occipital plagiocephaly" EXACT []
xref: UMLS:C4021160
is_a: HP:0001357 ! Plagiocephaly
created_by: peter
creation_date: 2012-02-25T02:11:33Z

[Term]
id: HP:0011328
name: Abnormality of fontanelles
def: "An abnormality of the fontanelle." [HPO:probinson, pmid:12825844]
comment: The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life.
subset: hposlim_core
synonym: "Anomaly of the fontanelles" RELATED []
xref: UMLS:C4020755
is_a: HP:0000235 ! Abnormality of the fontanelles or cranial sutures
created_by: peter
creation_date: 2012-02-25T02:34:36Z

[Term]
id: HP:0011329
name: Abnormality of cranial sutures
def: "Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [HPO:probinson]
synonym: "Abnormality of cranial sutures" EXACT layperson []
synonym: "Abnormality of the bregma sutures" EXACT []
synonym: "Abnormality of the calvarium sutures" EXACT []
synonym: "Abnormality of the cranial sutures" EXACT []
synonym: "Abnormality of the skull suture" EXACT []
xref: UMLS:C4023412
is_a: HP:0000235 ! Abnormality of the fontanelles or cranial sutures
created_by: peter
creation_date: 2012-02-25T03:33:56Z

[Term]
id: HP:0011330
name: Metopic synostosis
def: "Premature fusion of the metopic suture." [DDD:awilkie]
subset: hposlim_core
synonym: "Metopic craniosynostosis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Metopic suture craniosynostosis" EXACT []
xref: MSH:C562951
xref: MSH:D003398
xref: SNOMEDCT_US:109409003
xref: UMLS:C0432122
xref: UMLS:C1860819
is_a: HP:0005556 ! Abnormality of the metopic suture
created_by: peter
creation_date: 2012-02-25T03:52:01Z

[Term]
id: HP:0011331
name: Hemifacial atrophy
def: "Unilateral atrophy of facial tissues, including muscles, bones and skin." [DDD:awilkie]
subset: hposlim_core
synonym: "Atrophy of half of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Atrophy of one side of the face" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decrease in size of half of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decrease in size of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial hemiatrophy" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Shrinking of half of face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Shrinking of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D005150
xref: SNOMEDCT_US:718224004
xref: SNOMEDCT_US:95834000
xref: UMLS:C0015458
is_a: HP:0000324 ! Facial asymmetry
created_by: peter
creation_date: 2012-02-25T05:04:56Z

[Term]
id: HP:0011332
name: Hemifacial hypoplasia
def: "Unilateral underdevelopment of the facial tissues, including muscles and bones." [DDD:awilkie]
synonym: "Decreased size of half of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hemifacial microsomia" RELATED []
xref: MSH:D006053
xref: SNOMEDCT_US:254025006
xref: UMLS:C3495417
xref: UMLS:C4023411
is_a: HP:0000324 ! Facial asymmetry
created_by: peter
creation_date: 2012-02-25T05:05:45Z

[Term]
id: HP:0011333
name: Asymmetric crying face
def: "Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side." [HPO:cwright]
comment: Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve.
synonym: "Asymmetric crying face" EXACT layperson []
synonym: "Hypoplasia of depressor angula oris muscle" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Partial unilateral facial paresis" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:C535349
xref: SNOMEDCT_US:51409009
xref: UMLS:C0431406
xref: UMLS:C4280327
is_a: HP:0000324 ! Facial asymmetry
created_by: peter
creation_date: 2012-02-25T05:07:01Z

[Term]
id: HP:0011334
name: Facial shape deformation
synonym: "Distortion of facial shape" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial shape compression" EXACT []
synonym: "Facial shape deformation" EXACT layperson []
xref: UMLS:C4021159
is_a: HP:0001999 ! Abnormal facial shape
created_by: peter
creation_date: 2012-02-25T05:10:19Z

[Term]
id: HP:0011335
name: Frontal hirsutism
def: "Excessive amount of hair growth on forehead." [DDD:jclayton-smith]
synonym: "Hairy forehead" EXACT layperson []
synonym: "Hirsute forehead" EXACT []
xref: UMLS:C1839830
is_a: HP:0000290 ! Abnormality of the forehead
is_a: HP:0009937 ! Facial hirsutism
created_by: peter
creation_date: 2012-02-25T05:21:59Z

[Term]
id: HP:0011336
name: Bitemporal forceps marks
def: "Bilateral temporal scarlike defects, which are said to resemble forceps marks." [DDD:jclayton-smith]
synonym: "Temporal skin defect" RELATED []
xref: UMLS:C4020754
xref: UMLS:C4023409
is_a: HP:0000606 ! Abnormality of the periorbital region
created_by: peter
creation_date: 2012-02-25T05:25:36Z

[Term]
id: HP:0011337
name: Abnormality of mouth size
synonym: "Abnormality of mouth size" EXACT layperson []
synonym: "Anomaly of mouth size" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023408
is_a: HP:0000163 ! Abnormal oral cavity morphology
created_by: peter
creation_date: 2012-02-26T11:00:17Z

[Term]
id: HP:0011338
name: Abnormality of mouth shape
def: "An abnormality of the outline, configuration, or contour of the mouth." [DDD:jhurst]
synonym: "Abnormality of mouth shape" EXACT layperson []
synonym: "Anomaly of mouth shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unusual mouth shape" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: Fyler:4874
xref: UMLS:C4023407
is_a: HP:0000163 ! Abnormal oral cavity morphology
created_by: peter
creation_date: 2012-02-26T01:05:23Z

[Term]
id: HP:0011339
name: Abnormality of upper lip vermillion
def: "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin." [HPO:probinson]
synonym: "Abnormality of the red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023406
is_a: HP:0000177 ! Abnormality of upper lip
created_by: peter
creation_date: 2012-02-26T01:32:28Z

[Term]
id: HP:0011340
name: Incomplete cleft of the upper lip
def: "A subtle unilateral cleft of the upper lip, which may appear as a small indentation." [DDD:jclayton-smith]
synonym: "Forme fruste unilateral cleft lip" EXACT []
synonym: "Incomplete cheiloschisis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Incomplete cleft of the upper lip" EXACT layperson []
synonym: "Notched cleft of the upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Partial cleft of the upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021158
is_a: HP:0000204 ! Cleft upper lip
created_by: peter
creation_date: 2012-02-26T01:55:36Z

[Term]
id: HP:0011341
name: Long upper lip
def: "Increased width of the upper lip." [DDD:jhurst]
synonym: "Elongation of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased height of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased vertical length of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long upper lip" EXACT layperson []
xref: UMLS:C3151495
is_a: HP:0000177 ! Abnormality of upper lip
created_by: peter
creation_date: 2012-02-26T01:58:08Z

[Term]
id: HP:0011342
name: Mild global developmental delay
def: "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth]
synonym: "Psychomotor retardation, mild" RELATED [ORCID:0000-0001-5208-3432]
xref: UMLS:C2229182
xref: UMLS:C4012968
is_a: HP:0001263 ! Global developmental delay
created_by: peter
creation_date: 2012-02-29T11:19:49Z

[Term]
id: HP:0011343
name: Moderate global developmental delay
def: "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth]
synonym: "Psychomotor retardation, moderate" RELATED [HPO:skoehler]
xref: UMLS:C2237142
is_a: HP:0001263 ! Global developmental delay
created_by: peter
creation_date: 2012-02-29T11:20:28Z

[Term]
id: HP:0011344
name: Severe global developmental delay
def: "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth]
synonym: "Severe psychomotor retardation" RELATED [HPO:skoehler]
xref: UMLS:C1837397
xref: UMLS:C1854919
is_a: HP:0001263 ! Global developmental delay
created_by: peter
creation_date: 2012-02-29T11:20:45Z

[Term]
id: HP:0011345
name: Moderate expressive language delay
def: "A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth]
xref: SNOMEDCT_US:62211000119103
xref: UMLS:C3532933
is_a: HP:0002474 ! Expressive language delay
created_by: peter
creation_date: 2012-03-01T08:45:49Z

[Term]
id: HP:0011346
name: Mild expressive language delay
def: "A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth]
xref: SNOMEDCT_US:62231000119108
xref: UMLS:C3532934
is_a: HP:0002474 ! Expressive language delay
created_by: peter
creation_date: 2012-03-01T08:46:23Z

[Term]
id: HP:0011347
name: Abnormality of ocular abduction
def: "An abnormality involving the movement of the eye outwards." [HPO:probinson]
xref: UMLS:C4023405
is_a: HP:0000496 ! Abnormality of eye movement
created_by: peter
creation_date: 2012-03-01T10:18:05Z

[Term]
id: HP:0011348
name: Abnormality of the sixth cranial nerve
def: "An abnormality of the abducens nerve." [HPO:probinson]
comment: The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head).
xref: UMLS:C4023404
is_a: HP:0001291 ! Abnormal cranial nerve morphology
created_by: peter
creation_date: 2012-03-01T10:20:44Z

[Term]
id: HP:0011349
name: Abducens palsy
def: "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward." [HPO:probinson]
comment: Affected individuals may experience diplopia as well as esotropia or convergent strabismus.
synonym: "Sixth nerve palsy" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:C564661
xref: MSH:D020434
xref: SNOMEDCT_US:398760006
xref: SNOMEDCT_US:398925009
xref: SNOMEDCT_US:398963001
xref: UMLS:C0271355
is_a: HP:0011348 ! Abnormality of the sixth cranial nerve
created_by: peter
creation_date: 2012-03-01T10:30:20Z

[Term]
id: HP:0011350
name: Mild receptive language delay
def: "A mild delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth]
xref: SNOMEDCT_US:89501000119108
xref: UMLS:C3532948
is_a: HP:0010863 ! Receptive language delay
created_by: peter
creation_date: 2012-03-01T10:52:40Z

[Term]
id: HP:0011351
name: Moderate receptive language delay
def: "A moderate delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth]
xref: SNOMEDCT_US:89381000119107
xref: UMLS:C3532946
is_a: HP:0010863 ! Receptive language delay
created_by: peter
creation_date: 2012-03-01T10:53:13Z

[Term]
id: HP:0011352
name: Severe receptive language delay
def: "A severe delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth]
xref: SNOMEDCT_US:89391000119105
xref: UMLS:C3532947
is_a: HP:0010863 ! Receptive language delay
created_by: peter
creation_date: 2012-03-01T10:53:30Z

[Term]
id: HP:0011353
name: Arterial intimal fibrosis
def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries." [HPO:probinson]
synonym: "Intimal fibrosis" RELATED []
xref: UMLS:C4020753
xref: UMLS:C4023403
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: peter
creation_date: 2012-03-01T01:05:59Z

[Term]
id: HP:0011354
name: Generalized abnormality of skin
def: "An abnormality of the skin that is not localized to any one particular region." [DDD:cmoss]
synonym: "Generalised abnormality of skin" EXACT layperson []
synonym: "Generalized abnormality of skin" EXACT layperson []
xref: UMLS:C4021157
is_a: HP:0011121 ! Abnormality of skin morphology
created_by: peter
creation_date: 2012-03-01T01:55:07Z

[Term]
id: HP:0011355
name: Localized skin lesion
def: "A lesion of the skin that is located in a specific region rather than being generalized." [DDD:cmoss]
synonym: "Localized skin lesion" EXACT layperson []
xref: UMLS:C0850826
is_a: HP:0011121 ! Abnormality of skin morphology
created_by: peter
creation_date: 2012-03-01T02:37:43Z

[Term]
id: HP:0011356
name: Regional abnormality of skin
def: "An abnormality of the skin that is restricted to a particular body region." [DDD:cmoss]
xref: UMLS:C4023402
is_a: HP:0011121 ! Abnormality of skin morphology
created_by: peter
creation_date: 2012-03-01T02:39:14Z

[Term]
id: HP:0011357
name: Abnormality of hair density
def: "An abnormality of the density of hair growth." [DDD:cmoss]
synonym: "Abnormality of hair density" EXACT layperson []
xref: UMLS:C4023401
is_a: HP:0001595 ! Abnormal hair morphology
created_by: peter
creation_date: 2012-03-01T02:51:40Z

[Term]
id: HP:0011358
name: Generalized hypopigmentation of hair
def: "Reduced pigmentation of hair diffusely." [DDD:cmoss]
xref: UMLS:C4023400
is_a: HP:0005599 ! Hypopigmentation of hair
created_by: peter
creation_date: 2012-03-01T03:32:59Z

[Term]
id: HP:0011359
name: Dry hair
alt_id: HP:0200077
alt_id: HP:0200079
alt_id: HP:0200080
def: "Hair that lacks the lustre (shine or gleam) of normal hair." [DDD:cmoss]
synonym: "Dry hair" EXACT layperson []
xref: SNOMEDCT_US:79395009
xref: UMLS:C0277960
is_a: HP:0010719 ! Abnormality of hair texture
created_by: peter
creation_date: 2012-03-01T04:24:09Z

[Term]
id: HP:0011360
name: Acquired abnormal hair pattern
def: "An abnormality of the distribution of hair growth that is acquired during the course of life." [DDD:cmoss]
synonym: "Acquired abnormal hair pattern" EXACT layperson []
xref: UMLS:C4023399
is_a: HP:0010720 ! Abnormal hair pattern
created_by: peter
creation_date: 2012-03-01T08:36:23Z

[Term]
id: HP:0011361
name: Congenital abnormal hair pattern
def: "A congenital abnormality of the distribution of hair growth." [DDD:cmoss]
synonym: "Abnormal hair pattern since birth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023398
is_a: HP:0010720 ! Abnormal hair pattern
created_by: peter
creation_date: 2012-03-01T08:39:51Z

[Term]
id: HP:0011362
name: Abnormal hair quantity
alt_id: HP:0002115
def: "An abnormal amount of hair." [DDD:cmoss]
synonym: "Abnormal hair quantity" EXACT layperson []
xref: UMLS:C4023397
is_a: HP:0001595 ! Abnormal hair morphology
created_by: peter
creation_date: 2012-03-01T08:46:57Z

[Term]
id: HP:0011363
name: Abnormality of hair growth rate
def: "Hair whose growth rate deviates from the norm." [DDD:cmoss]
comment: Hair growth rate is normally about 1.25 centimeters per month.
synonym: "Abnormality of hair growth rate" EXACT layperson []
synonym: "Abnormality of pace of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of speed of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023396
is_a: HP:0040170 ! Abnormality of hair growth
created_by: peter
creation_date: 2012-03-01T09:46:36Z

[Term]
id: HP:0011364
name: White hair
def: "Hypopigmented hair that appears white." [DDD:cmoss]
synonym: "White hair" EXACT layperson []
xref: SNOMEDCT_US:297993006
xref: UMLS:C0239804
is_a: HP:0011358 ! Generalized hypopigmentation of hair
created_by: peter
creation_date: 2012-03-01T09:50:48Z

[Term]
id: HP:0011365
name: Patchy hypopigmentation of hair
def: "Reduced pigmentation of hair in patches." [DDD:cmoss]
xref: UMLS:C4023395
is_a: HP:0005599 ! Hypopigmentation of hair
created_by: peter
creation_date: 2012-03-01T09:52:58Z

[Term]
id: HP:0011367
name: Yellow nails
def: "Yellowish discoloration of the nails." [DDD:cmoss]
synonym: "Yellow nails" EXACT layperson []
xref: SNOMEDCT_US:45342007
xref: UMLS:C1768507
is_a: HP:0100643 ! Abnormality of nail color
created_by: peter
creation_date: 2012-03-03T12:08:12Z

[Term]
id: HP:0011368
name: Epidermal thickening
alt_id: HP:0001035
def: "Thickening of the epidermal layer of the skin." [HPO:probinson]
synonym: "Abnormality of keratinization" RELATED []
xref: UMLS:C0494876
xref: UMLS:C4020752
is_a: HP:0001072 ! Thickened skin
created_by: peter
creation_date: 2012-03-03T12:25:18Z

[Term]
id: HP:0011369
name: Mongolian blue spot
def: "Congenital deep dermal melanosis in the sacral area." [DDD:cmoss]
xref: MSH:D049328
xref: SNOMEDCT_US:40467008
xref: UMLS:C0265985
is_a: HP:0001034 ! Hypermelanotic macule
created_by: peter
creation_date: 2012-03-03T03:34:48Z

[Term]
id: HP:0011370
name: Recurrent cutaneous fungal infections
def: "Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections." []
xref: UMLS:C4023394
is_a: HP:0001581 ! Recurrent skin infections
is_a: HP:0002841 ! Recurrent fungal infections
created_by: peter
creation_date: 2012-03-03T10:34:52Z

[Term]
id: HP:0011371
name: Recurrent viral skin infections
def: "Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections." []
synonym: "Recurrent viral skin infections" EXACT layperson []
xref: UMLS:C4023393
is_a: HP:0001581 ! Recurrent skin infections
is_a: HP:0004429 ! Recurrent viral infections
created_by: peter
creation_date: 2012-03-03T10:36:20Z

[Term]
id: HP:0011372
name: Aplasia of the inner ear
def: "Absence of the inner ear due to a developmental defect." [DDD:dfitzpatrick]
comment: Aplasia of the inner ear is usually diagnosed on MR or CT imaging.
synonym: "Absent inner ear" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the labyrinth" EXACT []
synonym: "Labyrinthine aplasia" EXACT []
synonym: "Michel deformity" EXACT []
xref: SNOMEDCT_US:71973003
xref: UMLS:C0266604
is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear
created_by: peter
creation_date: 2012-03-07T08:23:52Z

[Term]
id: HP:0011373
name: Incomplete partition of the cochlea
def: "Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema." [HPO:probinson]
xref: UMLS:C4023392
is_a: HP:0008554 ! Cochlear malformation
created_by: peter
creation_date: 2012-03-07T08:24:55Z

[Term]
id: HP:0011374
name: Incomplete partition of the cochlea type I
def: "Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation." [DDD:mbitner-glidicz, PMID:21849370]
xref: UMLS:C4023391
is_a: HP:0011373 ! Incomplete partition of the cochlea
created_by: peter
creation_date: 2012-03-07T08:26:25Z

[Term]
id: HP:0011375
name: Cochlear aplasia
def: "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO:dfitzpatrick]
synonym: "Absent cochlea" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023390
is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea
created_by: peter
creation_date: 2012-03-07T08:31:27Z

[Term]
id: HP:0011376
name: Morphological abnormality of the vestibule of the inner ear
def: "A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals." [DDD:mbitner-glidicz]
comment: The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration\nand two otolith organs that are sensitive to linear acceleration.
synonym: "Vestibular abnormality" EXACT []
xref: UMLS:C0542259
is_a: HP:0011390 ! Morphological abnormality of the inner ear
created_by: peter
creation_date: 2012-03-07T08:35:08Z

[Term]
id: HP:0011377
name: Aplasia of the vestibule
def: "Complete absence of the vestibule of the inner ear." [DDD:dfitzpatrick]
synonym: "Absent vestibule" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023389
is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear
created_by: peter
creation_date: 2012-03-07T08:37:27Z

[Term]
id: HP:0011378
name: Hypoplasia of the vestibule of the inner ear
def: "Underdevelopment of the vestibule of the inner ear." [DDD:mbitner-glidicz]
xref: UMLS:C4023388
is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear
created_by: peter
creation_date: 2012-03-09T07:06:20Z

[Term]
id: HP:0011379
name: Dilated vestibule of the inner ear
def: "Dilatation of the vestibule of the inner ear." [DDD:mbitner-glidicz]
xref: UMLS:C4023387
is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear
created_by: peter
creation_date: 2012-03-09T07:07:38Z

[Term]
id: HP:0011380
name: Morphological abnormality of the semicircular canal
def: "An abnormality of the morphology of the semicircular canal." [DDD:dfitzpatrick]
xref: UMLS:C4023386
is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear
created_by: peter
creation_date: 2012-03-09T07:12:21Z

[Term]
id: HP:0011381
name: Aplasia of the semicircular canal
def: "Absence of the semicircular canal." [DDD:dfitzpatrick]
synonym: "Absent semicircular canal" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023385
is_a: HP:0011380 ! Morphological abnormality of the semicircular canal
created_by: peter
creation_date: 2012-03-09T07:14:57Z

[Term]
id: HP:0011382
name: Hypoplasia of the semicircular canal
def: "Underdevelopment of the semicircular canal." [DDD:dfitzpatrick]
synonym: "Hypoplasia of the semicircular canals" RELATED [HPO:skoehler]
synonym: "Small semicircular canal" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C3552156
is_a: HP:0011380 ! Morphological abnormality of the semicircular canal
created_by: peter
creation_date: 2012-03-09T07:15:47Z

[Term]
id: HP:0011383
name: Enlarged semicircular canal
def: "Increased size of the semicircular canal." [DDD:dfitzpatrick]
synonym: "Dilated semicircular canal" EXACT []
xref: UMLS:C4021156
is_a: HP:0011380 ! Morphological abnormality of the semicircular canal
created_by: peter
creation_date: 2012-03-09T07:16:58Z

[Term]
id: HP:0011384
name: Abnormality of the internal auditory canal
def: "An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse." [DDD:mbitner-glidicz]
synonym: "Abnormality of the internal acoustic meatus" EXACT []
xref: UMLS:C4021155
is_a: HP:0011390 ! Morphological abnormality of the inner ear
created_by: peter
creation_date: 2012-03-09T07:26:47Z

[Term]
id: HP:0011385
name: Absent internal auditory canal
def: "Aplasia of the internal auditory canal." [DDD:dfitzpatrick]
xref: UMLS:C4023384
is_a: HP:0011384 ! Abnormality of the internal auditory canal
created_by: peter
creation_date: 2012-03-09T07:33:46Z

[Term]
id: HP:0011386
name: Narrow internal auditory canal
def: "Reduction in diameter of the internal auditory canal." [DDD:dfitzpatrick]
xref: UMLS:C4023383
is_a: HP:0011384 ! Abnormality of the internal auditory canal
created_by: peter
creation_date: 2012-03-09T07:35:00Z

[Term]
id: HP:0011387
name: Enlarged vestibular aqueduct
def: "Increased size of the vestibular aqueduct." [DDD:mbitner-glidicz]
comment: Enlarged vestibular aqueduct is commonly seen in Pendred syndrome.
synonym: "Dilated vestibular aqueduct" EXACT []
synonym: "Widened vestibular aqueduct" EXACT []
xref: MSH:C566366
xref: UMLS:C1863752
is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear
created_by: peter
creation_date: 2012-03-09T07:38:34Z

[Term]
id: HP:0011388
name: Enlarged cochlear aqueduct
def: "Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular." [DDD:dfitzpatrick]
comment: The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher.
synonym: "Dilated cochlear aqueduct" EXACT []
xref: UMLS:C4021154
is_a: HP:0000375 ! Abnormal cochlea morphology
created_by: peter
creation_date: 2012-03-09T07:41:47Z

[Term]
id: HP:0011389
name: Functional abnormality of the inner ear
def: "An abnormality of the function of the inner ear." [DDD:dfitzpatrick]
comment: The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium.
synonym: "Functional abnormality of the inner ear" EXACT layperson []
xref: UMLS:C4023382
is_a: HP:0000359 ! Abnormality of the inner ear
created_by: hecht
creation_date: 2012-03-09T04:58:30Z

[Term]
id: HP:0011390
name: Morphological abnormality of the inner ear
def: "A structural anomaly of the internal part of the ear." [HPO:probinson]
comment: The inner ear contains the cochlea and the semicircular canals.
xref: UMLS:C4023381
is_a: HP:0000359 ! Abnormality of the inner ear
created_by: hecht
creation_date: 2012-03-09T04:59:24Z

[Term]
id: HP:0011391
name: Morphological abnormality of the nerves of the inner ear
xref: UMLS:C4023380
is_a: HP:0011390 ! Morphological abnormality of the inner ear
created_by: hecht
creation_date: 2012-03-09T05:03:30Z

[Term]
id: HP:0011392
name: Abnormality of the vestibular nerve
xref: UMLS:C4023379
is_a: HP:0011391 ! Morphological abnormality of the nerves of the inner ear
created_by: hecht
creation_date: 2012-03-09T05:03:47Z

[Term]
id: HP:0011393
name: Aplasia of the vestibular nerve.
def: "Absence of the vestibular nerve" [DDD:mbitner-glidicz]
comment: May be seen in CHARGE syndrome.
synonym: "Absent cranial nerve viii" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Absent the eighth cranial nerve" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Absent vestribular nerve" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of cranial nerve VIII" RELATED []
synonym: "Aplasia of the eighth cranial nerve" EXACT []
xref: UMLS:C4020751
xref: UMLS:C4021153
is_a: HP:0011392 ! Abnormality of the vestibular nerve
created_by: hecht
creation_date: 2012-03-09T05:08:14Z

[Term]
id: HP:0011394
name: Hypoplasia of the vestibular nerve
def: "Underdevelopment of the vestibular nerve." [DDD:dfitzpatrick]
synonym: "Hypoplasia of cranial nerve VIII" RELATED []
synonym: "Hypoplasia of the eighth cranial nerve" EXACT []
synonym: "Thin vestibular nerve" EXACT []
xref: UMLS:C4020750
is_a: HP:0011392 ! Abnormality of the vestibular nerve
created_by: hecht
creation_date: 2012-03-09T05:14:35Z

[Term]
id: HP:0011395
name: Aplasia/Hypoplasia of the cochlea
def: "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO:probinson]
synonym: "Absent/small cochlea" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped cochlea" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023378
is_a: HP:0000375 ! Abnormal cochlea morphology
is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear
created_by: hecht
creation_date: 2012-03-09T05:37:50Z

[Term]
id: HP:0011396
name: Abnormality of the cochlear nerve
xref: UMLS:C4023377
is_a: HP:0011391 ! Morphological abnormality of the nerves of the inner ear
created_by: hecht
creation_date: 2012-03-09T05:39:04Z

[Term]
id: HP:0011397
name: Abnormality of the dorsal column of the spinal cord
def: "An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus." [HPO:probinson]
comment: The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception.
xref: UMLS:C4023376
is_a: HP:0002143 ! Abnormality of the spinal cord
created_by: peter
creation_date: 2012-03-12T07:39:12Z

[Term]
id: HP:0011398
name: Central hypotonia
def: "Reduced muscle tone secondary to an abnormality of the central nervous system." [DDD:fmuntoni]
xref: UMLS:C1842364
is_a: HP:0003808 ! Abnormal muscle tone
is_a: HP:0011442 ! Abnormality of central motor function
created_by: peter
creation_date: 2012-03-12T04:39:51Z

[Term]
id: HP:0011399
name: Tibialis atrophy
def: "Atrophy of the tibialis muscle." [HPO:probinson]
synonym: "Tibialis muscle degeneration" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023375
is_a: HP:0008944 ! Distal lower limb amyotrophy
created_by: peter
creation_date: 2012-03-12T06:15:40Z

[Term]
id: HP:0011400
name: Abnormal CNS myelination
alt_id: HP:0002520
alt_id: HP:0004335
def: "An abnormality of myelination of nerves in the central nervous system." [DDD:fmuntoni]
comment: In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality.
synonym: "Abnormal formation of myelin sheaths" EXACT []
xref: UMLS:C4021152
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
is_a: HP:0012447 ! Abnormal myelination
created_by: peter
creation_date: 2012-03-12T07:24:42Z

[Term]
id: HP:0011401
name: Delayed peripheral myelination
def: "Delayed myelination in the peripheral nervous system." [HPO:probinson]
xref: UMLS:C4023374
is_a: HP:0003130 ! Abnormal peripheral myelination
is_a: HP:0012448 ! Delayed myelination
created_by: peter
creation_date: 2012-03-12T08:08:41Z

[Term]
id: HP:0011402
name: Demyelinating sensory neuropathy
def: "Demyelination of peripheral sensory nerves." [HPO:probinson]
xref: UMLS:C4023373
is_a: HP:0007108 ! Demyelinating peripheral neuropathy
created_by: peter
creation_date: 2012-03-12T08:28:12Z

[Term]
id: HP:0011403
name: Abnormal umbilical cord blood vessels
xref: UMLS:C4023372
is_a: HP:0010881 ! Abnormality of the umbilical cord
created_by: peter
creation_date: 2012-03-15T11:05:13Z

[Term]
id: HP:0011404
name: Lethal short-trunk short stature
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth." [HPO:probinson]
synonym: "Lethal short-trunk dwarfism" EXACT []
xref: UMLS:C4021151
is_a: HP:0003521 ! Disproportionate short-trunk short stature
created_by: peter
creation_date: 2012-03-15T09:38:44Z

[Term]
id: HP:0011405
name: Childhood onset short-limb short stature
alt_id: HP:0003523
synonym: "Short-limb dwarfism identifiable during childhood" EXACT []
xref: UMLS:C1867487
is_a: HP:0008873 ! Disproportionate short-limb short stature
created_by: peter
creation_date: 2012-03-15T09:44:56Z

[Term]
id: HP:0011406
name: Infancy onset short-trunk short stature
alt_id: HP:0008851
def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy." [HPO:probinson]
synonym: "Short-trunk dwarfism, identifiable in infancy" EXACT []
xref: UMLS:C1846061
is_a: HP:0003521 ! Disproportionate short-trunk short stature
created_by: peter
creation_date: 2012-03-15T09:45:48Z

[Term]
id: HP:0011407
name: Proportionate tall stature
xref: UMLS:C4023371
is_a: HP:0000098 ! Tall stature
created_by: peter
creation_date: 2012-03-15T09:47:20Z

[Term]
id: HP:0011408
name: Moderate intrauterine growth retardation
def: "Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age." [DDD:hfirth]
xref: UMLS:C4023370
is_a: HP:0001511 ! Intrauterine growth retardation
created_by: peter
creation_date: 2012-03-15T09:52:50Z

[Term]
id: HP:0011409
name: Abnormality of placental membranes
xref: UMLS:C4023369
is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord
created_by: peter
creation_date: 2012-03-15T11:07:01Z

[Term]
id: HP:0011410
name: Caesarian section
def: "Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy)." []
synonym: "Caesarian section" EXACT layperson []
xref: SNOMEDCT_US:200144004
xref: UMLS:C1384674
is_a: HP:0001787 ! Abnormal delivery
created_by: peter
creation_date: 2012-03-15T09:58:01Z

[Term]
id: HP:0011411
name: Forceps delivery
synonym: "Forceps delivery" EXACT layperson []
xref: UMLS:C0341808
is_a: HP:0001787 ! Abnormal delivery
created_by: peter
creation_date: 2012-03-15T09:58:47Z

[Term]
id: HP:0011412
name: Ventouse delivery
def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately." [DDD:hfirth]
synonym: "Vacuum extraction" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Vacuum-assisted vaginal delivery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D014620
xref: SNOMEDCT_US:10761101000119105
xref: SNOMEDCT_US:61586001
xref: UMLS:C0042225
xref: UMLS:C1456852
xref: UMLS:C2825567
is_a: HP:0001787 ! Abnormal delivery
created_by: peter
creation_date: 2012-03-15T09:59:31Z

[Term]
id: HP:0011413
name: Shoulder dystocia
def: "Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex." [pmid:15086043]
comment: Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed.
xref: SNOMEDCT_US:89700002
xref: UMLS:C0269825
is_a: HP:0001787 ! Abnormal delivery
created_by: peter
creation_date: 2012-03-15T10:01:02Z

[Term]
id: HP:0011414
name: Hydropic placenta
def: "An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement." [HPO:hfirth]
synonym: "Hydrops of the placenta" EXACT []
xref: SNOMEDCT_US:75094005
xref: UMLS:C0270254
is_a: HP:0006267 ! Large placenta
created_by: peter
creation_date: 2012-03-15T10:07:47Z

[Term]
id: HP:0011415
name: Calcified placenta
xref: SNOMEDCT_US:249174002
xref: UMLS:C0426234
is_a: HP:0100767 ! Abnormality of the placenta
created_by: peter
creation_date: 2012-03-15T10:10:35Z

[Term]
id: HP:0011416
name: Placental infarction
synonym: "Placental thromboembolism" EXACT []
xref: SNOMEDCT_US:268585006
xref: UMLS:C0554393
is_a: HP:0100767 ! Abnormality of the placenta
created_by: peter
creation_date: 2012-03-15T10:11:39Z

[Term]
id: HP:0011417
name: Long umbilical cord
def: "Increased length of the umbilical cord." [DDD:hfirth]
synonym: "Long umbilical cord" EXACT layperson []
xref: SNOMEDCT_US:237261008
xref: UMLS:C0405028
is_a: HP:0010881 ! Abnormality of the umbilical cord
created_by: peter
creation_date: 2012-03-15T10:12:55Z

[Term]
id: HP:0011418
name: Abnormal insertion of umbilical cord
synonym: "Vasa previa" EXACT []
xref: MSH:D055949
xref: SNOMEDCT_US:79668009
xref: UMLS:C0269852
is_a: HP:0010881 ! Abnormality of the umbilical cord
created_by: peter
creation_date: 2012-03-15T10:15:01Z

[Term]
id: HP:0011419
name: Placental abruption
def: "Separation of the placenta from the uterus wall before delivery." [DDD:hfirth]
synonym: "Abruptio placentae" EXACT []
xref: MSH:D000037
xref: SNOMEDCT_US:405736009
xref: SNOMEDCT_US:415105001
xref: UMLS:C0000832
is_a: HP:0100767 ! Abnormality of the placenta
created_by: peter
creation_date: 2012-03-15T11:08:18Z

[Term]
id: HP:0011420
name: Age of death
def: "The age group when the cessation of life happens." [HPO:probinson]
xref: UMLS:C1546180
is_a: HP:0040006 ! Mortality/Aging

[Term]
id: HP:0011421
name: Death in adolescence
def: "Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years)." [HPO:probinson]
synonym: "Death in adolescence" EXACT layperson []
xref: UMLS:C4023368
is_a: HP:0011420 ! Age of death
created_by: peter
creation_date: 2012-03-16T06:38:44Z

[Term]
id: HP:0011422
name: Abnormal blood chloride concentration
def: "An abnormality of chloride homeostasis or concentration in the body." [HPO:probinson]
synonym: "Abnormal blood Cl concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal blood Cl- concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormality of chloride homeostasis" EXACT []
xref: UMLS:C4023367
is_a: HP:0003111 ! Abnormal blood ion concentration
created_by: peter
creation_date: 2012-03-16T06:09:15Z

[Term]
id: HP:0011423
name: Hyperchloremia
def: "An abnormally increased chloride concentration in the blood." [HPO:probinson]
xref: SNOMEDCT_US:74450001
xref: UMLS:C0085679
is_a: HP:0011422 ! Abnormal blood chloride concentration
created_by: peter
creation_date: 2012-03-16T06:09:40Z

[Term]
id: HP:0011424
name: Increased serum zinc
def: "An increased consentration of zinc in the blood." [HPO:probinson]
synonym: "Hyperzincemia" EXACT []
xref: UMLS:C0854520
xref: UMLS:C0856208
is_a: HP:0008277 ! Abnormal blood zinc concentration
created_by: peter
creation_date: 2012-03-17T08:54:44Z

[Term]
id: HP:0011425
name: Fetal ultrasound soft marker
def: "An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders." [pmid:16100637]
comment: The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (pmid:16100637).
xref: UMLS:C4023366
is_a: HP:0001197 ! Abnormality of prenatal development or birth
created_by: peter
creation_date: 2012-03-17T04:26:01Z

[Term]
id: HP:0011426
name: Fetal choroid plexus cysts
def: "Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (pmid:16100637)." [DDD:hfirth, pmid:16100637, PMID:16809660]
comment: There is agreement that ultrasound characteristics of CPC, such as bilaterality, size, number, complexity, and resolution, are not related to the risk of aneuploidy. However, cysts with diameters less than 5 mm may not be linked with trisomy and large cysts in excess of 10 mm may impart a higher risk.
xref: SNOMEDCT_US:462165005
xref: UMLS:C3532166
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2012-03-17T06:59:50Z

[Term]
id: HP:0011427
name: Enlarged fetal cisterna magna
def: "The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vemis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (pmid:16100637)." [DDD:hfirth, pmid:16100637]
xref: UMLS:C4023365
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2012-03-17T07:03:07Z

[Term]
id: HP:0011428
name: Short fetal femur length
def: "A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)." [HPO:probinson, pmid:16100637]
synonym: "Short fetal thigh bone length" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0743924
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2012-03-17T07:05:40Z

[Term]
id: HP:0011429
name: Short fetal humerus length
def: "A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)." [HPO:probinson, pmid:16100637]
synonym: "Short fetal long bone in upper arm length" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023364
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2012-03-17T07:07:05Z

[Term]
id: HP:0011430
name: Hypoplasia of fetal nasal bone
def: "On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (pmid:16100637)." [HPO:probinson, pmid:16100637]
synonym: "Underdeveloped fetal nose bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023363
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2012-03-17T07:08:30Z

[Term]
id: HP:0011431
name: Fetal fifth finger clinodactyly
def: "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (pmid:16100637)." [HPO:probinson, pmid:16100637]
synonym: "Fetal little finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Fetal pinkie finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Fetal pinky finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023362
xref: UMLS:C4280326
is_a: HP:0011425 ! Fetal ultrasound soft marker
created_by: peter
creation_date: 2012-03-17T07:11:26Z

[Term]
id: HP:0011432
name: High maternal serum alpha-fetoprotein
def: "An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age." [DDD:hfirth]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
xref: UMLS:C4023361
is_a: HP:0011436 ! Abnormal maternal serum screening
created_by: peter
creation_date: 2012-03-17T07:45:07Z

[Term]
id: HP:0011433
name: High maternal serum chorionic gonadotropin
def: "An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [DDD:hfirth, pmid:2447576]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
synonym: "High maternal serum hCG" EXACT []
xref: UMLS:C4021150
is_a: HP:0011436 ! Abnormal maternal serum screening
created_by: peter
creation_date: 2012-03-17T07:47:39Z

[Term]
id: HP:0011434
name: Low maternal serum chorionic gonadotropin
def: "An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [DDD:hfirth, pmid:2447576]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
synonym: "Low maternal serum hCG" EXACT []
xref: UMLS:C4021149
is_a: HP:0011436 ! Abnormal maternal serum screening
created_by: peter
creation_date: 2012-03-17T07:48:26Z

[Term]
id: HP:0011435
name: Low maternal serum PAPP-A
def: "An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age." [DDD:hfirth, pmid:19038077]
comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
xref: UMLS:C4023360
is_a: HP:0011436 ! Abnormal maternal serum screening
created_by: peter
creation_date: 2012-03-17T07:51:25Z

[Term]
id: HP:0011436
name: Abnormal maternal serum screening
def: "An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy." [DDD:hfirth, pmid:19038077]
xref: UMLS:C4023359
is_a: HP:0002686 ! Prenatal maternal abnormality
created_by: peter
creation_date: 2012-03-17T07:52:25Z

[Term]
id: HP:0011437
name: Maternal autoimmune disease
def: "A medical history of a fetus or child born to a mother with an autoimmune disease." [DDD:hfirth]
comment: Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia.
xref: UMLS:C4023358
is_a: HP:0002686 ! Prenatal maternal abnormality
created_by: peter
creation_date: 2012-03-17T07:54:31Z

[Term]
id: HP:0011438
name: Maternal teratogenic exposure
def: "A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy." [DDD:hfirth]
comment: Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants).
xref: UMLS:C4023357
is_a: HP:0031437 ! Pregnancy exposure
created_by: peter
creation_date: 2012-03-17T07:59:06Z

[Term]
id: HP:0011439
name: Anesthetic-induced rhabdomylosis
def: "Rhabdomyolysis induced by anesthesia." [HPO:probinson]
xref: UMLS:C4023356
is_a: HP:0003201 ! Rhabdomyolysis
created_by: peter
creation_date: 2012-03-18T12:19:01Z

[Term]
id: HP:0011440
name: Alcohol-induced rhabdomyolysis
def: "Rhabdomyolysis induced by intake of alcohol." [HPO:probinson]
xref: UMLS:C4023355
is_a: HP:0003201 ! Rhabdomyolysis
created_by: peter
creation_date: 2012-03-18T12:21:35Z

[Term]
id: HP:0011441
name: Abnormality of the medulla oblongata
def: "An abnormality of the medulla oblongata, the lower half of the brainstem." [HPO:probinson]
comment: The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures.
synonym: "Abnormality of the myencephalon" EXACT []
xref: UMLS:C4021148
is_a: HP:0002363 ! Abnormality of brainstem morphology
is_a: HP:0011282 ! Abnormality of hindbrain morphology
created_by: peter
creation_date: 2012-03-18T01:51:24Z

[Term]
id: HP:0011442
name: Abnormality of central motor function
def: "An anomaly of the control or production of movement in the central nervous system." [HPO:probinson]
xref: UMLS:C4023354
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: peter
creation_date: 2012-03-18T02:29:04Z

[Term]
id: HP:0011443
name: Abnormality of coordination
synonym: "Abnormality of coordination" EXACT layperson []
synonym: "Coordination issue" EXACT layperson []
xref: UMLS:C4023353
is_a: HP:0011442 ! Abnormality of central motor function
created_by: peter
creation_date: 2012-03-18T02:40:46Z

[Term]
id: HP:0011444
name: Decorticate rigidity
def: "A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus." [HPO:probinson]
comment: Decorticate posturing
xref: MSH:D003655
xref: SNOMEDCT_US:36423000
xref: UMLS:C0231521
is_a: HP:0002063 ! Rigidity
created_by: peter
creation_date: 2012-03-18T03:30:10Z

[Term]
id: HP:0011445
name: Athetoid cerebral palsy
def: "A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone." [DDD:ssissodiya]
comment: Athetoid cerebral palsy is caused by damage to the basal ganglia.
synonym: "Dyskinetic cerebral palsy" RELATED []
xref: MSH:D002547
xref: SNOMEDCT_US:230780007
xref: SNOMEDCT_US:75019001
xref: UMLS:C0270742
is_a: HP:0002071 ! Abnormality of extrapyramidal motor function
is_a: HP:0100021 ! Cerebral palsy
created_by: peter
creation_date: 2012-03-18T03:53:04Z

[Term]
id: HP:0011446
name: Abnormality of higher mental function
def: "Cognitive, psychiatric or memory anomaly." [DDD:ajackson]
xref: UMLS:C4023352
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: peter
creation_date: 2012-03-18T04:23:59Z

[Term]
id: HP:0011447
name: Hyposegmentation of neutrophil nuclei
def: "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei." [DDD:probinson]
comment: Hyposegmented cells are neutrophils with fewer than three nuclear lobes.
synonym: "Hyposegmentation of neutrophil nuclei in peripheral blood" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-8169-9049]
synonym: "Pelger-Huet anomaly" RELATED []
xref: MSH:D010381
xref: SNOMEDCT_US:85559002
xref: UMLS:C0030779
xref: UMLS:C4023351
is_a: HP:0011992 ! Abnormality of neutrophil morphology
created_by: peter
creation_date: 2012-03-18T04:44:22Z

[Term]
id: HP:0011448
name: Ankle clonus
alt_id: HP:0002541
def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [HPO:probinson]
comment: Ankle clonus is generally caused by corticospinal disease.
synonym: "Abnormal rhythmic movements of ankle" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:39055007
xref: UMLS:C0238651
is_a: HP:0002169 ! Clonus
is_a: HP:0002815 ! Abnormality of the knee
is_a: HP:0003028 ! Abnormality of the ankles
created_by: peter
creation_date: 2012-03-18T05:09:48Z

[Term]
id: HP:0011449
name: Knee clonus
alt_id: HP:0002325
def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes." [HPO:probinson]
synonym: "Patellar clonus" EXACT []
xref: SNOMEDCT_US:54360005
xref: UMLS:C0520823
is_a: HP:0002169 ! Clonus
created_by: peter
creation_date: 2012-03-18T05:11:32Z

[Term]
id: HP:0011450
name: Unusual CNS infection
def: "A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection." []
synonym: "Central nervous system infection" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D002494
xref: SNOMEDCT_US:128117002
xref: UMLS:C0007684
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
is_a: HP:0032158 ! Unusual infection by anatomical site
created_by: peter
creation_date: 2012-03-18T05:57:29Z

[Term]
id: HP:0011451
name: Congenital microcephaly
def: "Head circumference below 2 standard deviations below the mean for age and gender at birth." [HPO:probinson]
synonym: "Congenital decreased head circumference" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Congenital small head" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Congenital small head circumference" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Congenital small skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased head circumference present at birth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Head circumference small for gestational age" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Microcephaly present at birth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small cranium present at birth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small head circumference present at birth" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Small head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Small skull present at birth" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C2677180
xref: UMLS:C4020749
is_a: HP:0000252 ! Microcephaly
created_by: peter
creation_date: 2012-03-18T06:50:36Z

[Term]
id: HP:0011452
name: Functional abnormality of the middle ear
def: "An abnormality of the function of the middle ear." [HPO:probinson]
comment: The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube.
synonym: "Functional abnormality of the middle ear" EXACT layperson []
xref: UMLS:C4021846
is_a: HP:0000370 ! Abnormality of the middle ear
created_by: peter
creation_date: 2012-03-19T09:33:03Z

[Term]
id: HP:0011453
name: Abnormality of the incus
def: "An abnormality of the incus, an ossicle in the middle ear." [DDD:dfitzpatrick]
xref: UMLS:C4023350
is_a: HP:0004452 ! Abnormality of the middle ear ossicles
created_by: peter
creation_date: 2012-03-19T09:38:20Z

[Term]
id: HP:0011454
name: Abnormality of the malleus
def: "An abnormality of the malleus, an ossicle in the middle ear." [DDD:dfitzpatrick]
xref: UMLS:C4023349
is_a: HP:0004452 ! Abnormality of the middle ear ossicles
created_by: peter
creation_date: 2012-03-19T09:40:02Z

[Term]
id: HP:0011455
name: Absent malleus
def: "Aplasia of the malleus." [DDD:dfitzpatrick]
xref: SNOMEDCT_US:300169003
xref: UMLS:C0576900
is_a: HP:0011454 ! Abnormality of the malleus
created_by: peter
creation_date: 2012-03-19T09:40:08Z

[Term]
id: HP:0011456
name: Absent stapes
def: "Aplasia of the stapes." [DDD:dfitzpatrick]
xref: SNOMEDCT_US:300178009
xref: UMLS:C0576909
is_a: HP:0008628 ! Abnormality of the stapes
created_by: peter
creation_date: 2012-03-19T09:42:52Z

[Term]
id: HP:0011457
name: Loss of eyelashes
def: "This term refers to the loss of eyelashes that were previously present." [HPO:probinson]
comment: Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions.
synonym: "Ciliary Madarosis" EXACT []
synonym: "Eyelashes fell out" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Loss of eyelashes" EXACT layperson []
synonym: "Milphosis" EXACT []
synonym: "Missing eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:34887006
xref: UMLS:C0271321
is_a: HP:0000499 ! Abnormal eyelash morphology
created_by: peter
creation_date: 2012-03-25T09:15:21Z

[Term]
id: HP:0011458
name: Abdominal symptom
xref: UMLS:C0740651
is_a: HP:0025032 ! Abnormality of digestive system physiology
created_by: peter
creation_date: 2012-03-25T05:35:45Z

[Term]
id: HP:0011459
name: Esophageal carcinoma
def: "The presence of a carcinoma of the esophagus." [DDD:hfirth, NCIT:C3513]
xref: SNOMEDCT_US:372138000
xref: UMLS:C0152018
is_a: HP:0100751 ! Esophageal neoplasm
created_by: peter
creation_date: 2012-03-25T06:55:07Z

[Term]
id: HP:0011460
name: Embryonal onset
def: "Onset of disease at up to 8 weeks of gestation." [DDD:whouwehand]
xref: UMLS:C4023348
is_a: HP:0030674 ! Antenatal onset
created_by: peter
creation_date: 2012-03-25T06:57:48Z

[Term]
id: HP:0011461
name: Fetal onset
def: "Onset prior to birth but after 8 weeks of gestation." [DDD:whouwehand]
xref: UMLS:C4023347
is_a: HP:0030674 ! Antenatal onset
created_by: peter
creation_date: 2012-03-25T06:58:21Z

[Term]
id: HP:0011462
name: Young adult onset
def: "Onset of disease at the age of between 16 and 40 years." [DDD:hfirth]
xref: UMLS:C3554568
is_a: HP:0003581 ! Adult onset
created_by: peter
creation_date: 2012-03-25T07:01:15Z

[Term]
id: HP:0011463
name: Childhood onset
alt_id: HP:0003586
alt_id: HP:0003617
def: "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
comment: This term refers to ages up to but not including the fifth birthday (see Juvenile onset).
synonym: "Symptoms begin in childhood" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: UMLS:C1837352
is_a: HP:0410280 ! Pediatric onset
created_by: peter
creation_date: 2012-03-25T07:16:20Z

[Term]
id: HP:0011464
name: Aganglionosis of the small intestine
def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine." [DDD:hfirth]
xref: UMLS:C4023346
is_a: HP:0004362 ! Abnormality of enteric ganglion morphology
created_by: peter
creation_date: 2012-03-25T07:36:49Z

[Term]
id: HP:0011465
name: Duodenal aganglionosis
def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum." [DDD:hfirth]
xref: UMLS:C4023345
is_a: HP:0011464 ! Aganglionosis of the small intestine
created_by: peter
creation_date: 2012-03-25T07:38:12Z

[Term]
id: HP:0011466
name: Aplasia/Hypoplasia of the gallbladder
def: "Absence or underdevelopment of the gallbladder." [HPO:probinson]
synonym: "Absent/small gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023344
is_a: HP:0012437 ! Abnormal gallbladder morphology
created_by: peter
creation_date: 2012-03-25T07:40:20Z

[Term]
id: HP:0011467
name: Absent gallbladder
def: "A developmental defect in which the gallbladder fails to form." [DDD:hfirth]
synonym: "Absent gallbladder" EXACT layperson []
synonym: "Agenesis of the gallbladder" EXACT []
synonym: "Aplasia of the gallbladder" EXACT []
xref: MSH:C562564
xref: SNOMEDCT_US:86507001
xref: UMLS:C0266251
is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder
created_by: peter
creation_date: 2012-03-25T07:41:14Z

[Term]
id: HP:0011468
name: Facial tics
def: "Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face." [DDD:cwright]
synonym: "Cramping of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial spasms" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial tics" EXACT layperson []
synonym: "Involuntary facial muscle spasms" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Jerking of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Mimic spasms" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Muscle spasm of face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Myoclonus of facial muscles" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Spasms of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Twitching of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:230335009
xref: SNOMEDCT_US:32402008
xref: UMLS:C0278151
xref: UMLS:C0338467
xref: UMLS:C0858722
xref: UMLS:C4280324
xref: UMLS:C4280325
is_a: HP:0005324 ! Disturbance of facial expression
created_by: peter
creation_date: 2012-03-25T07:45:47Z

[Term]
id: HP:0011469
name: Nasal regurgitation
def: "Regurgitation of milk through the nose." [DDD:ncarter]
xref: SNOMEDCT_US:85023004
xref: UMLS:C0232608
is_a: HP:0008872 ! Feeding difficulties in infancy
created_by: peter
creation_date: 2012-03-25T07:52:19Z

[Term]
id: HP:0011470
name: Nasogastric tube feeding in infancy
def: "Feeding problem necessitating nasogastric tube feeding." [DDD:ncarter]
comment: This is a severe form of feeding problems in infancy.
xref: UMLS:C4023343
is_a: HP:0008872 ! Feeding difficulties in infancy
created_by: peter
creation_date: 2012-03-25T07:53:46Z

[Term]
id: HP:0011471
name: Gastrostomy tube feeding in infancy
def: "Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter]
comment: This is an extremely severe form of feeding problems in infancy.
synonym: "PEG-fed in infancy" RELATED []
xref: UMLS:C4020748
xref: UMLS:C4023342
is_a: HP:0008872 ! Feeding difficulties in infancy
created_by: peter
creation_date: 2012-03-25T10:00:00Z

[Term]
id: HP:0011472
name: Abnormality of small intestinal villus morphology
synonym: "Abnormal shape of small intestinal villus" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023341
is_a: HP:0002244 ! Abnormality of the small intestine
created_by: peter
creation_date: 2012-03-26T08:16:03Z

[Term]
id: HP:0011473
name: Villous atrophy
def: "The enteric villi are atrophic or absent." [HPO:probinson]
subset: hposlim_core
synonym: "Atrophy of small intestinal villi" EXACT []
synonym: "Biopsy shows villous atrophy" RELATED [HPO:skoehler]
synonym: "Duodenal villous atrophy" RELATED [HPO:skoehler]
synonym: "Small intestine biopsy shows villous atrophy" RELATED [HPO:skoehler]
synonym: "Variable degree of villous atrophy" RELATED [HPO:skoehler]
synonym: "Villous degeneration" EXACT [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:275403002
xref: SNOMEDCT_US:75581001
xref: UMLS:C0267456
xref: UMLS:C0554101
xref: UMLS:C1833058
xref: UMLS:C1859541
xref: UMLS:C2677378
xref: UMLS:C4020747
is_a: HP:0011472 ! Abnormality of small intestinal villus morphology
created_by: peter
creation_date: 2012-03-26T08:18:31Z

[Term]
id: HP:0011474
name: Childhood onset sensorineural hearing impairment
def: "Sensorineural hearing impairment with childhood onset." [DDD:dfitzpatrick]
xref: UMLS:C4023340
is_a: HP:0000407 ! Sensorineural hearing impairment
created_by: peter
creation_date: 2012-03-30T07:18:09Z

[Term]
id: HP:0011475
name: Persistent stapedial artery
def: "Persistence of the stapedial artery, which normally regresses during embryonic life." [DDD:mbitner-glidicz]
xref: UMLS:C4023339
is_a: HP:0008609 ! Morphological abnormality of the middle ear
created_by: peter
creation_date: 2012-03-31T08:38:23Z

[Term]
id: HP:0011476
name: Profound sensorineural hearing impairment
def: "Complete loss of hearing related to a sensorineural defect." [DDD:dfitzpatrick]
xref: UMLS:C4023338
is_a: HP:0000407 ! Sensorineural hearing impairment
is_a: HP:0012715 ! Profound hearing impairment
created_by: peter
creation_date: 2012-03-31T10:21:17Z

[Term]
id: HP:0011477
name: Upbeat nystagmus
def: "In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient." [HPO:probinson, pmid:21505601]
comment: In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy.
xref: SNOMEDCT_US:307677002
xref: UMLS:C0585545
is_a: HP:0010544 ! Vertical nystagmus
created_by: peter
creation_date: 2012-04-01T10:54:17Z

[Term]
id: HP:0011478
name: True anophthalmia
def: "Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination." [DDD:ncarter]
comment: True anophthalmia implies an early failure of eye development.
synonym: "Complete anophthalmia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Completely missing eyeball" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Total anophthalmia" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C2675590
is_a: HP:0000528 ! Anophthalmia
created_by: peter
creation_date: 2012-04-01T12:19:11Z

[Term]
id: HP:0011479
name: Abnormal lacrimal punctum morphology
def: "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid." [HPO:probinson]
synonym: "Abnormality of the lacrimal punctum" EXACT []
xref: UMLS:C4023337
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology
created_by: peter
creation_date: 2012-04-01T09:08:05Z

[Term]
id: HP:0011480
name: Unilateral microphthalmos
def: "A developmental anomaly characterized by abnormal smallness of one eye." [DDD:ncarter]
synonym: "Abnormally small eyeball on one side" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unilateral nanophthalmos" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C3640024
xref: UMLS:C4280323
is_a: HP:0000568 ! Microphthalmia
created_by: peter
creation_date: 2012-04-01T12:35:57Z

[Term]
id: HP:0011481
name: Abnormal lacrimal duct morphology
def: "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac." [HPO:probinson]
synonym: "Abnormality of the lacrimal canaliculus" EXACT []
synonym: "Abnormality of the lacrimal duct" EXACT []
xref: UMLS:C1858567
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology
created_by: peter
creation_date: 2012-04-01T09:11:55Z

[Term]
id: HP:0011482
name: Abnormal lacrimal gland morphology
def: "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye." [HPO:probinson]
synonym: "Abnormality of the lacrimal gland" EXACT []
xref: UMLS:C4023336
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology
created_by: peter
creation_date: 2012-04-01T09:35:54Z

[Term]
id: HP:0011483
name: Anterior synechiae of the anterior chamber
def: "Adhesions between the iris and the cornea." [DDD:ncarter]
synonym: "Anterior synechiae" EXACT []
synonym: "Cornea-iris adhesion" EXACT []
synonym: "Iridocorneal synechia" EXACT []
xref: SNOMEDCT_US:70992005
xref: UMLS:C0152252
is_a: HP:0007833 ! Anterior chamber synechiae
created_by: peter
creation_date: 2012-04-02T08:50:23Z

[Term]
id: HP:0011484
name: Posterior synechiae of the anterior chamber
def: "Adhesions between the iris and the lens." [DDD:ncarter]
synonym: "Iridolenticular adhesions" EXACT []
synonym: "Posterior synechiae" EXACT []
xref: SNOMEDCT_US:111512005
xref: UMLS:C0152253
is_a: HP:0007833 ! Anterior chamber synechiae
created_by: peter
creation_date: 2012-04-02T08:50:59Z

[Term]
id: HP:0011485
name: Corneolenticular adhesion
def: "Developmental abnormality in which the lens and cornea are not separated." [DDD:ncarter]
xref: UMLS:C4023334
is_a: HP:0000593 ! Abnormal anterior chamber morphology
created_by: peter
creation_date: 2012-04-02T08:52:43Z

[Term]
id: HP:0011486
name: Abnormality of corneal thickness
def: "An abnormal anteroposterior thickness of the cornea." [DDD:gblack]
xref: UMLS:C4023333
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: peter
creation_date: 2012-04-02T10:15:01Z

[Term]
id: HP:0011487
name: Increased corneal thickness
def: "A increased anteroposterior thickness of the cornea." [HPO:probinson]
xref: UMLS:C3810451
is_a: HP:0011486 ! Abnormality of corneal thickness
created_by: peter
creation_date: 2012-04-02T10:17:35Z

[Term]
id: HP:0011488
name: Abnormal corneal endothelium morphology
def: "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea." [DDD:gblack]
synonym: "Abnormality of corneal endothelium" EXACT []
xref: UMLS:C4023332
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: peter
creation_date: 2012-04-02T10:18:50Z

[Term]
id: HP:0011489
name: Abnormal migration of corneal endothelium
def: "Abnormal migration of corneal endothelium." [DDD:ncarter]
comment: Can be seen in posterior polymorphous corneal dystrophy.
xref: UMLS:C4023331
is_a: HP:0011488 ! Abnormal corneal endothelium morphology
created_by: peter
creation_date: 2012-04-02T10:20:17Z

[Term]
id: HP:0011490
name: Abnormal Descemet membrane morphology
def: "Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium." [DDD:gblack]
synonym: "Abnormality of Descemet's membrane" EXACT []
xref: UMLS:C4023330
is_a: HP:0011488 ! Abnormal corneal endothelium morphology
created_by: peter
creation_date: 2012-04-02T10:23:11Z

[Term]
id: HP:0011491
name: Reduced number of corneal endothelial cells
def: "A reduction in the number of corneal endothelial cells." [DDD:ncarter]
xref: UMLS:C4023329
is_a: HP:0011488 ! Abnormal corneal endothelium morphology
created_by: peter
creation_date: 2012-04-02T10:24:23Z

[Term]
id: HP:0011492
name: Abnormality of corneal stroma
def: "An abnormality of the stroma of cornea, also known as the substantia propria of cornea." [DDD:ncarter, HPO:probinson]
xref: UMLS:C4023328
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: peter
creation_date: 2012-04-02T10:28:49Z

[Term]
id: HP:0011493
name: Central opacification of the cornea
def: "Reduced transparency of the central portion of the corneal stroma." [DDD:ncarter]
xref: UMLS:C4023327
is_a: HP:0007759 ! Opacification of the corneal stroma
created_by: peter
creation_date: 2012-04-02T10:36:22Z

[Term]
id: HP:0011494
name: Generalized opacification of the cornea
def: "Generalized reduced transparency of the stroma of the cornea." [DDD:gblack]
synonym: "Generalised opacification of the cornea" EXACT HP:0045076 []
xref: UMLS:C4021147
is_a: HP:0007759 ! Opacification of the corneal stroma
created_by: peter
creation_date: 2012-04-02T10:39:50Z

[Term]
id: HP:0011495
name: Abnormal corneal epithelium morphology
def: "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea." [DDD:gblack]
synonym: "Abnormality of corneal epithelium" EXACT []
xref: UMLS:C4023326
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: peter
creation_date: 2012-04-03T07:10:49Z

[Term]
id: HP:0011496
name: Corneal neovascularization
def: "Ingrowth of new blood vessels into the cornea." [DDD:ncarter, pmid:22898649]
comment: New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders).
synonym: "Corneal neovascularisation" EXACT HP:0045076 []
synonym: "Corneal vascularization" EXACT []
synonym: "Limbal neovascularization" EXACT []
synonym: "New blood vessel formation in cornea" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D016510
xref: SNOMEDCT_US:19161004
xref: UMLS:C0085109
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: peter
creation_date: 2012-04-03T07:15:37Z

[Term]
id: HP:0011497
name: Iris neovascularization
def: "New growth of vessels on the surface of the iris." [DDD:ncarter]
synonym: "New blood vessel formation in iris" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:51995000
xref: UMLS:C0154916
is_a: HP:0007905 ! Abnormal iris vasculature
created_by: peter
creation_date: 2012-04-03T07:32:43Z

[Term]
id: HP:0011498
name: obsolete Partial aniridia
is_obsolete: true
replaced_by: HP:0000526
creation_date: 2012-04-03T07:38:24Z

[Term]
id: HP:0011499
name: Mydriasis
def: "Abnormal dilatation of the iris." [DDD:ncarter]
subset: hposlim_core
synonym: "Dilated pupil" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D015878
xref: SNOMEDCT_US:37125009
xref: UMLS:C0026961
is_a: HP:0007686 ! Abnormal pupillary function
created_by: peter
creation_date: 2012-04-03T07:49:21Z

[Term]
id: HP:0011500
name: Polycoria
def: "Multiple pupils." [DDD:ncarter]
synonym: "Multiple pupils" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:204159004
xref: UMLS:C0344544
is_a: HP:0000615 ! Abnormal pupil morphology
created_by: peter
creation_date: 2012-04-04T07:19:56Z

[Term]
id: HP:0011501
name: Anterior lenticonus
def: "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack]
xref: SNOMEDCT_US:95480008
xref: UMLS:C0344262
is_a: HP:0001142 ! Lenticonus
created_by: peter
creation_date: 2012-04-04T07:54:36Z

[Term]
id: HP:0011502
name: Posterior lenticonus
def: "A conical projection of the posterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack]
xref: SNOMEDCT_US:95482000
xref: UMLS:C0344263
is_a: HP:0001142 ! Lenticonus
created_by: peter
creation_date: 2012-04-04T07:55:12Z

[Term]
id: HP:0011503
name: Aplasia of the fovea
def: "Congenital absence of the fovea." [HPO:probinson]
comment: Aplasia of the fovea can occur in aniridia and albinism.
synonym: "Absent fovea" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023324
is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea
created_by: peter
creation_date: 2012-04-06T08:40:21Z

[Term]
id: HP:0011504
name: Bull's eye maculopathy
def: "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack]
synonym: "Chloroquine retinopathy" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:C537833
xref: SNOMEDCT_US:312958000
xref: SNOMEDCT_US:424169002
xref: UMLS:C0730330
xref: UMLS:C1828210
is_a: HP:0008002 ! Abnormality of macular pigmentation
created_by: peter
creation_date: 2012-04-06T08:57:53Z

[Term]
id: HP:0011505
name: Cystoid macular edema
def: "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [DDD:ncarter]
comment: CME can occur with Irvine-Gass syndrome and other disorders.
synonym: "Cystoid macular oedema" EXACT []
xref: MSH:D008269
xref: SNOMEDCT_US:193387007
xref: UMLS:C0024440
is_a: HP:0040049 ! Macular edema
created_by: peter
creation_date: 2012-04-06T09:12:59Z

[Term]
id: HP:0011506
name: Choroidal neovascularization
def: "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." [DDD:ncarter]
comment: This is a common symptom of the degenerative maculopathy wet age-related macular degeneration.
xref: UMLS:C4023323
is_a: HP:0001103 ! Abnormal macular morphology
is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature
created_by: peter
creation_date: 2012-04-06T09:28:46Z

[Term]
id: HP:0011507
name: Macular flecks
def: "Pale often indistinct lesions of the macula." [DDD:gblack]
xref: UMLS:C4023322
is_a: HP:0030500 ! Yellow/white lesions of the macula
created_by: peter
creation_date: 2012-04-06T09:38:42Z

[Term]
id: HP:0011508
name: Macular hole
def: "A macular hole is a small break in the macula, located in the center of the retina." [DDD:ncarter]
xref: MSH:D012167
xref: SNOMEDCT_US:232006002
xref: UMLS:C0024441
is_a: HP:0001103 ! Abnormal macular morphology
is_a: HP:0011958 ! Retinal perforation
created_by: peter
creation_date: 2012-04-06T09:39:58Z

[Term]
id: HP:0011509
name: Macular hyperpigmentation
def: "Increased amount of pigmentation in the macula lutea." [DDD:ncarter]
xref: UMLS:C0745109
is_a: HP:0008002 ! Abnormality of macular pigmentation
created_by: peter
creation_date: 2012-04-06T09:52:11Z

[Term]
id: HP:0011510
name: Drusen
def: "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye." [DDD:gblack]
xref: SNOMEDCT_US:18695008
xref: UMLS:C1260959
is_a: HP:0030506 ! Yellow/white lesions of the retina
created_by: peter
creation_date: 2012-04-06T09:54:42Z

[Term]
id: HP:0011511
name: Macular schisis
def: "Splitting of the retina in the macular region." [DDD:gblack]
comment: This abnormality can be seen in X-linked retinoschisis.
xref: UMLS:C4023321
is_a: HP:0030498 ! Macular thickening
created_by: peter
creation_date: 2012-04-06T09:55:43Z

[Term]
id: HP:0011512
name: Hyperpigmentation of the fundus
def: "Increased pigmentation of the fundus" [DDD:ncarter, ORCID:0000-0003-0986-4123]
synonym: "Hyperpigmented fundi" EXACT []
synonym: "Hyperpigmented fundus" EXACT []
xref: UMLS:C4021146
is_a: HP:0031605 ! Abnormality of fundus pigmentation
created_by: peter
creation_date: 2012-04-06T10:34:11Z

[Term]
id: HP:0011513
name: Retinal cavernous angioma
def: "A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance." [HPO:probinson, pmid:20844673]
comment: The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance.
xref: SNOMEDCT_US:312937006
xref: UMLS:C0730304
is_a: HP:0007797 ! Retinal vascular malformation
created_by: peter
creation_date: 2012-04-06T04:12:54Z

[Term]
id: HP:0011514
name: Abnormality of binocular vision
def: "An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth." [DDD:ncarter]
xref: UMLS:C4023320
is_a: HP:0000504 ! Abnormality of vision
created_by: peter
creation_date: 2012-04-06T06:00:34Z

[Term]
id: HP:0011515
name: Abnormal stereopsis
def: "Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head." [DDD:gblack]
xref: UMLS:C4023319
is_a: HP:0011514 ! Abnormality of binocular vision
created_by: peter
creation_date: 2012-04-06T06:03:49Z

[Term]
id: HP:0011516
name: Achromatopsia
def: "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult." [DDD:gblack, PMID:12015282]
comment: The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa.
synonym: "Rod monochromacy" EXACT []
synonym: "Rod monochromatism" EXACT []
xref: MSH:C536021
xref: SNOMEDCT_US:102450007
xref: UMLS:C0302129
is_a: HP:0007803 ! Monochromacy
created_by: peter
creation_date: 2012-04-06T06:40:03Z

[Term]
id: HP:0011517
name: Cone monochromacy
def: "The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors." [DDD:ncarter]
comment: There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy.
xref: UMLS:C4023318
is_a: HP:0007803 ! Monochromacy
created_by: peter
creation_date: 2012-04-06T06:40:33Z

[Term]
id: HP:0011518
name: Dichromacy
def: "Individuals affected by dichromacy possess only two types of cones, instead of three." [HPO:probinson]
comment: The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing.
xref: UMLS:C4023317
is_a: HP:0007641 ! Dyschromatopsia
created_by: peter
creation_date: 2012-04-06T06:46:27Z

[Term]
id: HP:0011519
name: Anomalous trichromacy
def: "Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones." [HPO:probinson]
comment: Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions.
xref: UMLS:C4023316
is_a: HP:0007641 ! Dyschromatopsia
created_by: peter
creation_date: 2012-04-06T06:57:10Z

[Term]
id: HP:0011520
name: Deuteranomaly
def: "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green." [HPO:probinson]
comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green.
synonym: "Deuteranomoly" EXACT []
synonym: "Green-weak" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D003117
xref: SNOMEDCT_US:246674000
xref: SNOMEDCT_US:77479002
xref: UMLS:C0155016
is_a: HP:0000642 ! Red-green dyschromatopsia
is_a: HP:0011519 ! Anomalous trichromacy
created_by: peter
creation_date: 2012-04-06T07:14:19Z

[Term]
id: HP:0011521
name: Deuteranopia
def: "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green." [DDD:gblack]
comment: Blue and red cones only; no functional green cones.
synonym: "Green-blind" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D003117
xref: SNOMEDCT_US:246674000
xref: SNOMEDCT_US:77479002
xref: UMLS:C0155016
is_a: HP:0000642 ! Red-green dyschromatopsia
is_a: HP:0011518 ! Dichromacy
created_by: peter
creation_date: 2012-04-06T07:34:40Z

[Term]
id: HP:0011522
name: Protanopia
def: "Blue and green cones only; no functional red cones." [DDD:gblack]
synonym: "Red-blind" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D003117
xref: SNOMEDCT_US:51445007
xref: UMLS:C0155015
is_a: HP:0000642 ! Red-green dyschromatopsia
is_a: HP:0011518 ! Dichromacy
created_by: peter
creation_date: 2012-04-06T07:45:06Z

[Term]
id: HP:0011523
name: Iris cyst
def: "An iris cyst is composed of a single cell layer of epithelium and is filled with fluid." [DDD:gblack]
xref: SNOMEDCT_US:37761009
xref: UMLS:C0271119
is_a: HP:0000525 ! Abnormality iris morphology
created_by: peter
creation_date: 2012-04-06T09:05:29Z

[Term]
id: HP:0011524
name: Iris melanoma
def: "Malignant tumor of melanocytes affecting the iris." [DDD:ncarter]
xref: NCIT:C3224
xref: SNOMEDCT_US:255012009
xref: UMLS:C0346373
is_a: HP:0000525 ! Abnormality iris morphology
is_a: HP:0007716 ! Uveal melanoma
created_by: peter
creation_date: 2012-04-06T09:06:41Z

[Term]
id: HP:0011525
name: Iris nevus
def: "A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated." [DDD:ncarter]
synonym: "Eye freckle" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:95711003
xref: UMLS:C0346376
is_a: HP:0000525 ! Abnormality iris morphology
created_by: peter
creation_date: 2012-04-06T09:11:42Z

[Term]
id: HP:0011526
name: Abnormality of lens shape
def: "An abnormal shape of the lens." [HPO:probinson]
synonym: "Abnormality of lens shape" EXACT layperson []
xref: UMLS:C4023314
is_a: HP:0000517 ! Abnormality of the lens
created_by: peter
creation_date: 2012-04-06T09:16:11Z

[Term]
id: HP:0011527
name: Lentiglobus
def: "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging." [DDD:gblack]
subset: hposlim_core
synonym: "Bulging of eye lens" BROAD layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:419281007
xref: UMLS:C1622439
xref: UMLS:C4280322
is_a: HP:0011526 ! Abnormality of lens shape
created_by: peter
creation_date: 2012-04-06T09:17:01Z

[Term]
id: HP:0011528
name: Solitary congenital hypertrophy of retinal pigment epithelium
def: "Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance." [DDD:gblack]
synonym: "Single isolated CHRPE" EXACT []
synonym: "Single isolated congenital hypertrophy of retinal pigment epithelium" EXACT []
xref: UMLS:C4021145
is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium
created_by: peter
creation_date: 2012-04-06T09:24:44Z

[Term]
id: HP:0011529
name: Multiple bilateral congenital hypertrophy of retinal pigment epithelium
def: "Sharply demarcated hyperpigmentation which is congenital." [DDD:gblack]
comment: Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli.
synonym: "Multiple bilateral CHRPE" EXACT HP:0045077 []
xref: UMLS:C4021144
is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium
created_by: peter
creation_date: 2012-04-06T09:25:33Z

[Term]
id: HP:0011530
name: Retinal hole
def: "A small break in the retina." [HPO:probinson]
comment: A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field.
synonym: "Retinal holes" EXACT [HPO:skoehler]
xref: MSH:D012167
xref: SNOMEDCT_US:232003005
xref: SNOMEDCT_US:302888003
xref: SNOMEDCT_US:40024006
xref: SNOMEDCT_US:95690009
xref: UMLS:C0035321
is_a: HP:0011958 ! Retinal perforation
created_by: peter
creation_date: 2012-04-06T09:39:01Z

[Term]
id: HP:0011531
name: Vitritis
def: "Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity." [HPO:probinson]
subset: hposlim_core
synonym: "Hyalitis" EXACT []
synonym: "Vitreitis" EXACT []
xref: SNOMEDCT_US:95802009
xref: UMLS:C0235812
is_a: HP:0004327 ! Abnormal vitreous humor morphology
created_by: peter
creation_date: 2012-04-07T08:21:01Z

[Term]
id: HP:0011532
name: Subretinal exudate
def: "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson]
xref: SNOMEDCT_US:247156002
xref: UMLS:C0423431
is_a: HP:0001147 ! Retinal exudate
created_by: peter
creation_date: 2012-04-07T09:21:46Z

[Term]
id: HP:0011533
name: Snowflake vitreoretinal degeneration
def: "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous." [DDD:ncarter, PMID:18179896]
synonym: "Snowflake retinal degeneration" EXACT []
xref: MSH:C536677
xref: UMLS:C1860405
is_a: HP:0007769 ! Peripheral retinal degeneration
is_a: HP:0007773 ! Vitreoretinopathy
created_by: peter
creation_date: 2012-04-07T09:52:37Z

[Term]
id: HP:0011534
name: Abnormal spatial orientation of the cardiac segments
def: "Abnormality of the spatial relationship of the cardiac segments to other components of the heart." []
xref: UMLS:C4023313
is_a: HP:0001627 ! Abnormal heart morphology
created_by: peter
creation_date: 2012-04-07T10:27:48Z

[Term]
id: HP:0011535
name: Abnormal atrial arrangement
def: "Abnormality of the spatial relationship of the atria to other components of the heart." [DDD:dbrown]
synonym: "Abnormal location of heart atrium" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:445898001
xref: UMLS:C2959688
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
created_by: peter
creation_date: 2012-04-07T10:31:16Z

[Term]
id: HP:0011536
name: Right atrial isomerism
def: "Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest." [DDD:dbrown, pmid:3408620]
xref: MSH:D059446
xref: UMLS:C3178806
is_a: HP:0011535 ! Abnormal atrial arrangement
is_a: HP:0031855 ! Right isomerism
created_by: peter
creation_date: 2012-04-07T10:36:52Z

[Term]
id: HP:0011537
name: Left atrial isomerism
def: "In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest." [DDD:dbrown, pmid:3408620]
comment: Left and right hand side atria have left atrial morphology.
xref: EPCC:03.01.05
xref: ICD-10:Q20.6
xref: MSH:D059446
xref: UMLS:C3178807
is_a: HP:0011535 ! Abnormal atrial arrangement
is_a: HP:0031854 ! Left Isomerism
created_by: peter
creation_date: 2012-04-07T10:37:51Z

[Term]
id: HP:0011538
name: Atrial situs inversus
def: "Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side." [DDD:dbrown]
xref: EPCC:03.01.03
xref: Fyler:0150
xref: Fyler:150
xref: ICD-10:Q89.3
xref: UMLS:C4023312
is_a: HP:0011535 ! Abnormal atrial arrangement
created_by: peter
creation_date: 2012-04-07T10:40:16Z

[Term]
id: HP:0011539
name: Atrial situs ambiguous
def: "Common atrium without defining morphologic features." [DDD:dbrown]
synonym: "Atrial heterotaxy" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Atrial situs ambiguus" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:448681000
xref: UMLS:C3164429
is_a: HP:0011535 ! Abnormal atrial arrangement
created_by: peter
creation_date: 2012-04-07T10:43:42Z

[Term]
id: HP:0011540
name: Congenitally corrected transposition of the great arteries
def: "The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta." [DDD:dbrown, pmid:21569592]
synonym: "L-transposition" RELATED []
synonym: "Ventricular inversion" RELATED []
xref: EPCC:01.01.03
xref: ICD-10:Q20.5
xref: MSH:C535426
xref: SNOMEDCT_US:56743000
xref: SNOMEDCT_US:83799000
xref: UMLS:C0232301
xref: UMLS:C0344616
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
is_a: HP:0011603 ! Congenital malformation of the great arteries
created_by: peter
creation_date: 2012-04-07T10:48:56Z

[Term]
id: HP:0011541
name: Criss-cross atrioventricular valves
def: "Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis." [DDD:dbrown, HPO:probinson]
xref: UMLS:C4023310
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
created_by: peter
creation_date: 2012-04-07T10:51:57Z

[Term]
id: HP:0011542
name: Criss-cross atrioventricular valves with superior-inferior ventricles
def: "Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side." [PMID:11789809]
xref: UMLS:C4023309
is_a: HP:0011541 ! Criss-cross atrioventricular valves
created_by: peter
creation_date: 2012-04-07T10:55:06Z

[Term]
id: HP:0011543
name: Superior-inferior ventricles without criss-cross atrioventricular valves
xref: Fyler:0184
xref: Fyler:184
xref: UMLS:C4023308
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
created_by: peter
creation_date: 2012-04-07T10:56:21Z

[Term]
id: HP:0011544
name: L-looping of the right ventricle
xref: UMLS:C4023307
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
created_by: peter
creation_date: 2012-04-07T11:20:04Z

[Term]
id: HP:0011545
name: Abnormal connection of the cardiac segments
def: "A deviance in the normal connections between two cardiac segements." [PMID:24876921]
synonym: "Discordant connection of the cardiac segments" EXACT []
xref: UMLS:C4023306
is_a: HP:0001627 ! Abnormal heart morphology
created_by: peter
creation_date: 2012-04-07T11:24:25Z

[Term]
id: HP:0011546
name: Abnormal atrioventricular connection
def: "An abnormality of the circulatory connection between atria and ventricles." [DDD:dbrown]
xref: SNOMEDCT_US:253274005
xref: UMLS:C0344612
is_a: HP:0011545 ! Abnormal connection of the cardiac segments
created_by: peter
creation_date: 2012-04-07T11:27:57Z

[Term]
id: HP:0011547
name: Absent left sided atrioventricular connection
def: "A defect where there is no connection between the left atrium and left ventricle." [PMID:7104116]
xref: SNOMEDCT_US:253290005
xref: UMLS:C0344629
is_a: HP:0011546 ! Abnormal atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:30:16Z

[Term]
id: HP:0011548
name: Absent right sided atrioventricular connection
def: "A defect where there is no connection between the right atrium and right ventricle." [PMID:7104116]
xref: SNOMEDCT_US:253285007
xref: UMLS:C0344624
is_a: HP:0011546 ! Abnormal atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:30:44Z

[Term]
id: HP:0011549
name: Univentricular heart with absent left sided atrioventricular connection
xref: UMLS:C4023305
is_a: HP:0011547 ! Absent left sided atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:31:18Z

[Term]
id: HP:0011550
name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
xref: UMLS:C4023304
is_a: HP:0011547 ! Absent left sided atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:32:09Z

[Term]
id: HP:0011551
name: Right sided atrium to left ventricle and absent left sided atrioventricular connection
xref: UMLS:C4023303
is_a: HP:0011547 ! Absent left sided atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:32:53Z

[Term]
id: HP:0011552
name: Ambiguous atrioventricular connection
def: "With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle)." [DDD:dbrown, HPO:probinson]
xref: SNOMEDCT_US:253278008
xref: UMLS:C0344617
is_a: HP:0011546 ! Abnormal atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:33:24Z

[Term]
id: HP:0011553
name: Discordant atrioventricular connection
def: "Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart." [DDD:dbrown, HPO:probinson, PMID:23804932]
xref: SNOMEDCT_US:253277003
xref: UMLS:C0344615
is_a: HP:0011546 ! Abnormal atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:47:06Z

[Term]
id: HP:0011554
name: Double inlet atrioventricular connection
def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve." [DDD:dbrown, HPO:probinson]
xref: EPCC:01.01.14
xref: ICD-10:Q20.4
xref: UMLS:C4023302
is_a: HP:0011546 ! Abnormal atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:49:32Z

[Term]
id: HP:0011555
name: Double inlet left ventricle
def: "The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual." [DDD:dbrown, HPO:probinson]
xref: EPCC:01.04.04
xref: ICD-10:Q20.4
xref: SNOMEDCT_US:253283000
xref: UMLS:C0344622
is_a: HP:0001750 ! Single ventricle
is_a: HP:0011554 ! Double inlet atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:53:33Z

[Term]
id: HP:0011556
name: Double inlet right ventricle
def: "The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic." [DDD:dbrown, HPO:probinson]
xref: EPCC:01.04.03
xref: ICD-10:Q20.4
xref: SNOMEDCT_US:253282005
xref: UMLS:C0344621
is_a: HP:0001750 ! Single ventricle
is_a: HP:0011554 ! Double inlet atrioventricular connection
created_by: peter
creation_date: 2012-04-07T11:57:14Z

[Term]
id: HP:0011557
name: Double inlet to single ventricle of indeterminate morphology
def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle." [DDD:dbrown, HPO:probinson]
xref: UMLS:C4023301
is_a: HP:0001750 ! Single ventricle
is_a: HP:0011554 ! Double inlet atrioventricular connection
created_by: peter
creation_date: 2012-04-07T12:00:21Z

[Term]
id: HP:0011558
name: Double inlet to single ventricle with common atrioventricular orifice
xref: UMLS:C4023300
is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology
created_by: peter
creation_date: 2012-04-07T12:02:03Z

[Term]
id: HP:0011559
name: Double inlet to single ventricle with two atrioventricular valves
xref: UMLS:C4023299
is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology
created_by: peter
creation_date: 2012-04-07T12:02:15Z

[Term]
id: HP:0011560
name: Mitral atresia
def: "A congenital defect with failure to open of the mitral valve orifice." [DDD:dbrown]
synonym: "Mitral valve atresia" EXACT []
xref: EPCC:06.02.01
xref: Fyler:0310
xref: Fyler:310
xref: ICD-10:Q23.2
xref: SNOMEDCT_US:23063005
xref: UMLS:C0344760
is_a: HP:0001633 ! Abnormal mitral valve morphology
is_a: HP:0011546 ! Abnormal atrioventricular connection
created_by: peter
creation_date: 2012-04-07T12:04:11Z

[Term]
id: HP:0011561
name: Overriding atrioventricular valve
def: "An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect." [DDD:dbrown, HPO:probinson, PMID:7295418]
comment: Straddling and overriding atrioventricular valves usually occur in combination.
xref: UMLS:C4023298
is_a: HP:0011546 ! Abnormal atrioventricular connection
created_by: peter
creation_date: 2012-04-07T12:09:28Z

[Term]
id: HP:0011562
name: Straddling atrioventricular valve
def: "Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect." [DDD:dbrown, HPO:probinson, PMID:7295418]
comment: Straddling and overriding atrioventricular valves usually occur in combination.
xref: UMLS:C4023297
is_a: HP:0011546 ! Abnormal atrioventricular connection
created_by: peter
creation_date: 2012-04-07T12:13:57Z

[Term]
id: HP:0011563
name: Abnormal ventriculoarterial connection
def: "An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta." [PMID:15227248, PMID:18805185, PMID:24750982]
comment: The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries.
synonym: "Abnormal ventriculo-arterial connection" EXACT []
xref: UMLS:C4023296
is_a: HP:0011545 ! Abnormal connection of the cardiac segments
created_by: peter
creation_date: 2012-04-08T07:32:38Z

[Term]
id: HP:0011564
name: Mitral valve arcade
def: "Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle." [DDD:dbrown, pmid:20404264]
synonym: "Hammock mitral valve" EXACT []
xref: UMLS:C4021143
is_a: HP:0001633 ! Abnormal mitral valve morphology
created_by: peter
creation_date: 2012-04-08T10:03:28Z

[Term]
id: HP:0011565
name: Common atrium
def: "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [DDD:dbrown, HPO:probinson]
synonym: "Single atrium" EXACT [ORCID:0000-0001-6908-9849]
xref: Fyler:1140
xref: ICD-10:Q21.2
xref: SNOMEDCT_US:253276007
xref: UMLS:C0392482
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
created_by: peter
creation_date: 2012-04-08T07:50:05Z

[Term]
id: HP:0011566
name: Cor triatriatum dexter
def: "A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue." [DDD:dbrown, HPO:probinson, pmid:17948095]
comment: Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side.
synonym: "Cor triatriatum dextrum" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:2854
xref: SNOMEDCT_US:274947007
xref: UMLS:C0344697
is_a: HP:0010774 ! Cor triatriatum
created_by: peter
creation_date: 2012-04-08T08:02:56Z

[Term]
id: HP:0011567
name: Sinus venosus atrial septal defect
def: "An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting." [DDD:dbrown, HPO:probinson, pmid:16172274]
xref: Fyler:2010
xref: ICD-10:Q21.1
xref: MSH:C548009
xref: SNOMEDCT_US:95268002
xref: UMLS:C0344730
is_a: HP:0001631 ! Atrial septal defect
created_by: peter
creation_date: 2012-04-08T08:15:24Z

[Term]
id: HP:0011568
name: Double orifice mitral valve
def: "The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue." [DDD:dbrown, HPO:probinson, pmid:20851840]
comment: In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal.
xref: SNOMEDCT_US:253402005
xref: UMLS:C0344770
is_a: HP:0001633 ! Abnormal mitral valve morphology
created_by: peter
creation_date: 2012-04-08T08:29:48Z

[Term]
id: HP:0011569
name: Cleft anterior mitral valve leaflet
def: "Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect." [DDD:dbrown, pmid:6829465]
xref: UMLS:C4023295
is_a: HP:0031480 ! Abnormal mitral valve leaflet morphology
created_by: peter
creation_date: 2012-04-08T08:40:46Z

[Term]
id: HP:0011570
name: Congenital mitral stenosis
def: "Mitral stenosis with congenital onset." [DDD:dbrown]
xref: SNOMEDCT_US:82458004
xref: UMLS:C0158618
is_a: HP:0001718 ! Mitral stenosis
created_by: peter
creation_date: 2012-04-08T08:46:46Z

[Term]
id: HP:0011571
name: Parachute mitral valve
def: "Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles." [DDD:dbrown]
xref: SNOMEDCT_US:204362007
xref: UMLS:C0546965
is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve
created_by: peter
creation_date: 2012-04-08T08:47:46Z

[Term]
id: HP:0011572
name: Supramitral ring
def: "A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve." [DDD:dbrown]
synonym: "Membranous supravalvular mitral stenosis" EXACT []
synonym: "Supravalvular mitral ring" EXACT []
xref: UMLS:C4021142
is_a: HP:0001633 ! Abnormal mitral valve morphology
created_by: peter
creation_date: 2012-04-08T08:49:07Z

[Term]
id: HP:0011573
name: Hypoplastic tricuspid valve
def: "Congenital defect characterized by underdevelopment of the tricuspid valve." [DDD:dbrown]
synonym: "Tricuspid valve hypoplasia" EXACT []
synonym: "Underdeveloped tricuspid valve" EXACT [ORCID:0000-0001-6908-9849]
xref: Fyler:1720
xref: UMLS:C4023294
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
created_by: peter
creation_date: 2012-04-08T10:22:38Z

[Term]
id: HP:0011574
name: Imperforate atrioventricular valve
def: "An atrioventricular valve that has failed to open (atretic)." [DDD:dbrown]
synonym: "Unopened atrioventricular valve" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023293
is_a: HP:0006705 ! Abnormal atrioventricular valve morphology
created_by: peter
creation_date: 2012-04-08T10:35:25Z

[Term]
id: HP:0011575
name: Imperforate tricuspid valve
def: "A tricuspid valve that has failed to open." [DDD:dbrown, PMID:7066117]
comment: Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography.
synonym: "Unopened tricuspid valve" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023292
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
is_a: HP:0011574 ! Imperforate atrioventricular valve
created_by: peter
creation_date: 2012-04-08T10:37:55Z

[Term]
id: HP:0011576
name: Intermediate atrioventricular canal defect
def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices." [DDD:dbrown]
synonym: "Intermediate atrioventricular septal defect" EXACT []
xref: Fyler:1121
xref: UMLS:C4023291
is_a: HP:0006695 ! Atrioventricular canal defect
created_by: peter
creation_date: 2012-04-08T10:56:04Z

[Term]
id: HP:0011577
name: Partial atrioventricular canal defect
def: "A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices." [DDD:dbrown]
xref: SNOMEDCT_US:718216009
xref: UMLS:C4023290
is_a: HP:0006695 ! Atrioventricular canal defect
created_by: peter
creation_date: 2012-04-08T10:57:14Z

[Term]
id: HP:0011578
name: Transitional atrioventricular canal defect
def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices." [DDD:dbrown]
xref: UMLS:C4023289
is_a: HP:0006695 ! Atrioventricular canal defect
created_by: peter
creation_date: 2012-04-08T10:58:47Z

[Term]
id: HP:0011579
name: Unbalanced atrioventricular canal defect
def: "Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)." [DDD:dbrown, pmid:20837915]
synonym: "Unbalanced atrioventricular septal defect" EXACT []
xref: UMLS:C3280940
is_a: HP:0006695 ! Atrioventricular canal defect
created_by: peter
creation_date: 2012-04-08T11:02:44Z

[Term]
id: HP:0011580
name: Short chordae tendineae of the mitral valve
def: "Abnormally short chordae tendineae of the mitral valve." [HPO:probinson]
comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart.
xref: UMLS:C4023288
is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve
created_by: peter
creation_date: 2012-04-08T12:01:44Z

[Term]
id: HP:0011581
name: Double outlet left ventricle
def: "A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle." [HPO:probinson]
xref: Fyler:0650
xref: Fyler:650
xref: ICD-10:Q20.2
xref: SNOMEDCT_US:7368005
xref: UMLS:C0265809
is_a: HP:0001711 ! Abnormal left ventricle morphology
created_by: peter
creation_date: 2012-04-08T12:37:48Z

[Term]
id: HP:0011582
name: Abdominal ectopia cordis
def: "Displacement of the heart outside the thoracic cavity and into the abdomen." [DDD:dbrown]
xref: UMLS:C4023287
is_a: HP:0001683 ! Ectopia cordis
created_by: peter
creation_date: 2012-04-08T01:10:32Z

[Term]
id: HP:0011583
name: Cervical ectopia cordis
def: "A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum." [DDD:dbrown, HPO:probinson]
comment: This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck.
xref: UMLS:C4023286
is_a: HP:0001683 ! Ectopia cordis
created_by: peter
creation_date: 2012-04-08T01:11:40Z

[Term]
id: HP:0011584
name: Thoracocervical ectopia cordis
def: "A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum." [DDD:dbrown, HPO:probinson]
xref: UMLS:C4023285
is_a: HP:0001683 ! Ectopia cordis
created_by: peter
creation_date: 2012-04-08T01:12:42Z

[Term]
id: HP:0011585
name: Thoracic ectopia cordis
def: "Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum." [DDD:dbrown, HPO:probinson]
xref: UMLS:C4023284
is_a: HP:0001683 ! Ectopia cordis
created_by: peter
creation_date: 2012-04-08T01:13:18Z

[Term]
id: HP:0011586
name: Thoracoabdominal ectopia cordis
def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity." [DDD:dbrown, HPO:probinson, pmid:19479716]
comment: In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell.
xref: UMLS:C4023283
is_a: HP:0001683 ! Ectopia cordis
created_by: peter
creation_date: 2012-04-08T01:13:52Z

[Term]
id: HP:0011587
name: Abnormal branching pattern of the aortic arch
def: "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries." [DDD:dbrown]
comment: The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring.
xref: UMLS:C4023282
is_a: HP:0012303 ! Abnormal aortic arch morphology
created_by: peter
creation_date: 2012-04-08T01:34:42Z

[Term]
id: HP:0011588
name: Cervical aortic arch
def: "The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta." [DDD:dbrown]
xref: SNOMEDCT_US:253657003
xref: UMLS:C0345065
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
created_by: peter
creation_date: 2012-04-08T01:37:51Z

[Term]
id: HP:0011589
name: Common origin of the right brachiocephalic artery and left common carotid artery
def: "The left common carotid artery has a common origin with the innominate artery." [DDD:dbrown, HPO:probinson, pmid:17138027]
comment: Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery.
synonym: "Bovine arch" RELATED []
synonym: "Common brachiocephalic trunk" EXACT []
synonym: "Ovine arch" RELATED []
xref: SNOMEDCT_US:460890003
xref: UMLS:C3532020
xref: UMLS:C4020746
xref: UMLS:C4021141
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
created_by: peter
creation_date: 2012-04-08T01:38:36Z

[Term]
id: HP:0011590
name: Double aortic arch
def: "A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor)." [DDD:dbrown, HPO:probinson, pmid:15148283, pmid:15564538]
xref: Fyler:2761
xref: SNOMEDCT_US:10451007
xref: UMLS:C0265883
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
created_by: peter
creation_date: 2012-04-08T01:46:10Z

[Term]
id: HP:0011591
name: Left aortic arch with cervical origin of the right subclavian artery
xref: UMLS:C4023281
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
created_by: peter
creation_date: 2012-04-08T01:57:40Z

[Term]
id: HP:0011592
name: Left aortic arch with isolated subclavian artery
def: "The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis." [DDD:dbrown]
xref: UMLS:C4023280
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
created_by: peter
creation_date: 2012-04-08T02:01:39Z

[Term]
id: HP:0011593
name: Left aortic arch with retroesophageal diverticulum of Kommerell
def: "A patent ductus arteriosus or ductal ligament completes the ring." [DDD:dbrown]
synonym: "Kommerell diverticulum" EXACT []
xref: SNOMEDCT_US:74561007
xref: UMLS:C0265885
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
created_by: peter
creation_date: 2012-04-08T02:02:42Z

[Term]
id: HP:0011594
name: Right aortic arch with retroesophageal diverticulum of Kommerell
def: "Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch." [DDD:dbrown, pmid:12075866]
xref: UMLS:C4023279
is_a: HP:0012020 ! Right aortic arch
created_by: peter
creation_date: 2012-04-08T02:07:10Z

[Term]
id: HP:0011595
name: Left aortic arch with retroesophageal right subclavian artery
def: "Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body." [DDD:dbrown]
xref: UMLS:C4023278
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
created_by: peter
creation_date: 2012-04-08T02:09:39Z

[Term]
id: HP:0011596
name: Left aortic arch with right descending aorta and right ductus arteriosus
def: "The ring may be completed by the ductal ligament." [DDD:dbrown]
xref: UMLS:C4023277
is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch
created_by: peter
creation_date: 2012-04-08T02:10:48Z

[Term]
id: HP:0011597
name: Right aortic arch with left descending aorta and left ductus arteriosus
xref: UMLS:C4023276
is_a: HP:0012020 ! Right aortic arch
created_by: peter
creation_date: 2012-04-08T02:23:47Z

[Term]
id: HP:0011598
name: Right aortic arch with retroesophageal left subclavian artery
synonym: "Right aortic arch with aberrant left subclavian artery" EXACT []
synonym: "Right aortic arch with anomalous left subclavian artery" EXACT []
xref: UMLS:C4021140
is_a: HP:0012020 ! Right aortic arch
created_by: peter
creation_date: 2012-04-08T02:27:16Z

[Term]
id: HP:0011599
name: Mesocardia
def: "Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane." [DDD:dbrown, HPO:probinson]
xref: Fyler:0140
xref: Fyler:140
xref: SNOMEDCT_US:16567006
xref: UMLS:C0265865
is_a: HP:0004307 ! Abnormal anatomic location of the heart
created_by: peter
creation_date: 2012-04-08T02:41:36Z

[Term]
id: HP:0011600
name: Abnormal direction of ventricular apex
def: "Abnormal plane of direction of the heart from the base to the apex. Left sided is normal." [DDD:dbrown]
xref: UMLS:C4023275
is_a: HP:0004307 ! Abnormal anatomic location of the heart
created_by: peter
creation_date: 2012-04-08T02:44:41Z

[Term]
id: HP:0011601
name: Rightward direction of ventricular apex
def: "Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal." [DDD:dbrown]
xref: UMLS:C4023274
is_a: HP:0011600 ! Abnormal direction of ventricular apex
created_by: peter
creation_date: 2012-04-08T02:46:32Z

[Term]
id: HP:0011602
name: Midline direction of ventricular apex
def: "Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal." [DDD:dbrown]
xref: UMLS:C4023273
is_a: HP:0011600 ! Abnormal direction of ventricular apex
created_by: peter
creation_date: 2012-04-08T02:47:52Z

[Term]
id: HP:0011603
name: Congenital malformation of the great arteries
def: "Defect or defects of the morphogenesis of the aorta and pulmonary arteries." []
xref: UMLS:C0478012
is_a: HP:0030962 ! Abnormal morphology of the great vessels
created_by: peter
creation_date: 2012-04-08T02:51:09Z

[Term]
id: HP:0011604
name: Aortopulmonary window
def: "A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt." [DDD:dbrown, HPO:probinson]
xref: Fyler:0560
xref: Fyler:560
xref: MSH:D001028
xref: SNOMEDCT_US:17024001
xref: UMLS:C0003516
is_a: HP:0011603 ! Congenital malformation of the great arteries
created_by: peter
creation_date: 2012-04-08T02:52:38Z

[Term]
id: HP:0011605
name: Congenitally corrected transposition of the great arteries with ventricular septal defect
def: "A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum." [PMID:21569592]
xref: UMLS:C4023272
is_a: HP:0011540 ! Congenitally corrected transposition of the great arteries
created_by: peter
creation_date: 2012-04-08T02:55:06Z

[Term]
id: HP:0011606
name: obsolete Transposition of the great arteries with intact ventricular septum
is_obsolete: true
consider: HP:0001669

[Term]
id: HP:0011607
name: obsolete Transposition of the great arteries with ventricular septal defect
is_obsolete: true
consider: HP:0001669

[Term]
id: HP:0011608
name: Type II truncus arteriosus
def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus." [DDD:dbrown, HPO:probinson]
comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
synonym: "Persistent truncus arteriosus type II" EXACT []
synonym: "Type 2 truncus arteriosus" EXACT []
xref: Fyler:0520
xref: Fyler:520
xref: UMLS:C4021137
is_a: HP:0001660 ! Truncus arteriosus
created_by: peter
creation_date: 2012-04-08T03:03:51Z

[Term]
id: HP:0011609
name: Type III truncus arteriosus
def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta." [DDD:dbrown, HPO:probinson]
comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
synonym: "Persistent truncus arteriosus type III" EXACT []
synonym: "Type 3 truncus arteriosus" EXACT []
xref: Fyler:0530
xref: Fyler:530
xref: UMLS:C4021136
is_a: HP:0001660 ! Truncus arteriosus
created_by: peter
creation_date: 2012-04-08T03:08:53Z

[Term]
id: HP:0011610
name: Type IV truncus arteriosus
def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present." [DDD:dbrown, HPO:probinson]
comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
synonym: "Persistent truncus arteriosus type IV" EXACT []
synonym: "Type 4 truncus arteriosus" EXACT []
xref: Fyler:0540
xref: Fyler:540
xref: UMLS:C4021135
is_a: HP:0001660 ! Truncus arteriosus
created_by: peter
creation_date: 2012-04-08T03:11:07Z

[Term]
id: HP:0011611
name: Interrupted aortic arch
alt_id: HP:0006680
def: "Non-continuity of the arch of aorta with an atretic point or absent segment." [DDD:dbrown]
synonym: "Aortic arch obstruction" RELATED []
synonym: "Atretic transverse aortic arch" EXACT []
xref: Fyler:1241
xref: Fyler:1250
xref: SNOMEDCT_US:218728005
xref: UMLS:C0152419
is_a: HP:0012303 ! Abnormal aortic arch morphology
created_by: peter
creation_date: 2012-04-08T03:17:10Z

[Term]
id: HP:0011612
name: Interrupted aortic arch type A
def: "Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus." [DDD:dbrown]
xref: SNOMEDCT_US:253681005
xref: UMLS:C0345092
is_a: HP:0011611 ! Interrupted aortic arch
created_by: peter
creation_date: 2012-04-08T03:18:18Z

[Term]
id: HP:0011613
name: Interrupted aortic arch type B
def: "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries." [DDD:dbrown]
synonym: "Interrupted aortic arch, type b" EXACT []
xref: Fyler:1252
xref: SNOMEDCT_US:253682003
xref: UMLS:C0345093
is_a: HP:0011611 ! Interrupted aortic arch
created_by: peter
creation_date: 2012-04-08T03:18:58Z

[Term]
id: HP:0011614
name: Interrupted aortic arch type C
def: "Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries." [DDD:dbrown]
xref: SNOMEDCT_US:253683008
xref: UMLS:C0345094
is_a: HP:0011611 ! Interrupted aortic arch
created_by: peter
creation_date: 2012-04-08T03:19:48Z

[Term]
id: HP:0011615
name: Abnormal pulmonary situs morphology
def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi." [DDD:dbrown]
synonym: "Abnormality of pulmonary situs" EXACT []
xref: UMLS:C4023271
is_a: HP:0012252 ! Abnormal respiratory system morphology
created_by: peter
creation_date: 2012-04-08T09:20:13Z

[Term]
id: HP:0011616
name: Pulmonary situs inversus
def: "Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus." [DDD:dbrown]
xref: UMLS:C4023270
is_a: HP:0011615 ! Abnormal pulmonary situs morphology
created_by: peter
creation_date: 2012-04-08T09:23:21Z

[Term]
id: HP:0011617
name: Pulmonary situs ambiguus
def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same." [DDD:dbrown]
xref: UMLS:C4023269
is_a: HP:0011615 ! Abnormal pulmonary situs morphology
created_by: peter
creation_date: 2012-04-08T09:24:21Z

[Term]
id: HP:0011618
name: Pulmonary situs ambiguus with bilateral morphologic right lungs
def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung." [DDD:dbrown, HPO:probinson]
xref: UMLS:C4023268
is_a: HP:0011617 ! Pulmonary situs ambiguus
created_by: peter
creation_date: 2012-04-08T09:25:35Z

[Term]
id: HP:0011619
name: Pulmonary situs ambiguus with bilateral morphologic left lungs
def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung." [DDD:dbrown]
xref: UMLS:C4023267
is_a: HP:0011617 ! Pulmonary situs ambiguus
created_by: peter
creation_date: 2012-04-08T09:26:18Z

[Term]
id: HP:0011620
name: Abnormality of abdominal situs
def: "An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs." [DDD:dbrown]
xref: UMLS:C4023266
is_a: HP:0002012 ! Abnormality of the abdominal organs
is_a: HP:0030853 ! Heterotaxy
created_by: peter
creation_date: 2012-04-08T09:30:05Z

[Term]
id: HP:0011621
name: Gerbode ventricular septal defect
def: "A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve." [DDD:dbrown, pmid:19561249]
comment: Echocardiography may visualize a jet across a small defect between left ventricle and right atrium.
synonym: "Left ventricular - right atrial communication" RELATED []
xref: SNOMEDCT_US:41893002
xref: UMLS:C0265812
xref: UMLS:C4023265
is_a: HP:0001629 ! Ventricular septal defect
created_by: peter
creation_date: 2012-04-08T09:34:01Z

[Term]
id: HP:0011622
name: Inlet ventricular septal defect
def: "A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus." [DDD:dbrown, pmid:17101870]
comment: The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically.
synonym: "Atrioventricular canal type ventricular septal defect" EXACT []
synonym: "Type 3 ventricular septal defect" EXACT []
xref: Fyler:1340
xref: MSH:C535974
xref: SNOMEDCT_US:360481003
xref: UMLS:C0221215
is_a: HP:0001629 ! Ventricular septal defect
created_by: peter
creation_date: 2012-04-08T09:38:29Z

[Term]
id: HP:0011623
name: Muscular ventricular septal defect
def: "The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle." [DDD:dbrown, pmid:17101870]
synonym: "Type 4 ventricular septal defect" EXACT []
synonym: "Ventricular septal defect, muscular" RELATED [HPO:skoehler]
xref: Fyler:1320
xref: SNOMEDCT_US:94706008
xref: UMLS:C0685707
is_a: HP:0001629 ! Ventricular septal defect
created_by: peter
creation_date: 2012-04-08T09:43:15Z

[Term]
id: HP:0011624
name: Apical muscular ventricular septal defect
def: "A muscular ventricular septal defect located at the apex of the heart." [DDD:dbrown]
xref: UMLS:C4023264
is_a: HP:0011623 ! Muscular ventricular septal defect
created_by: peter
creation_date: 2012-04-08T09:45:43Z

[Term]
id: HP:0011625
name: Multiple muscular ventricular septal defects
def: "A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum." [PMID:22718060]
synonym: "Swiss cheese ventricular septal defect" EXACT []
xref: UMLS:C4023263
is_a: HP:0011623 ! Muscular ventricular septal defect
created_by: peter
creation_date: 2012-04-08T09:49:03Z

[Term]
id: HP:0011626
name: Scimitar anomaly
def: "Right pulmonary venous return to the inferior vena cava." [DDD:dbrown, pmid:16638549]
synonym: "Pulmonary venolobar syndrome" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Scimitar syndrome" EXACT []
xref: ICD-10:Q26.8
xref: MSH:D012587
xref: SNOMEDCT_US:111323005
xref: SNOMEDCT_US:39905002
xref: UMLS:C0036400
is_a: HP:0010773 ! Partial anomalous pulmonary venous return
created_by: peter
creation_date: 2012-04-08T09:57:11Z

[Term]
id: HP:0011627
name: Aorto-ventricular tunnel
def: "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle." [pmid:17922908]
xref: UMLS:C4023262
is_a: HP:0001679 ! Abnormal aortic morphology
created_by: peter
creation_date: 2012-04-09T08:29:49Z

[Term]
id: HP:0011628
name: Congenital defect of the pericardium
def: "A developmental defect of the pericardium with congenital onset." [DDD:dbrown]
xref: UMLS:C4023261
is_a: HP:0001697 ! Abnormal pericardium morphology
created_by: peter
creation_date: 2012-04-08T10:05:20Z

[Term]
id: HP:0011629
name: Total absence of the pericardium
def: "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy." [DDD:dbrown]
synonym: "Absent pericardium" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Congenital absence of the pericardium" EXACT [ORCID:0000-0001-6908-9849]
xref: Fyler:1910
xref: SNOMEDCT_US:253732001
xref: UMLS:C0345140
is_a: HP:0011628 ! Congenital defect of the pericardium
created_by: peter
creation_date: 2012-04-08T10:06:22Z

[Term]
id: HP:0011630
name: Complete diaphragmatic absence of pericardium
def: "No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [DDD:dbrown]
xref: UMLS:C4023259
is_a: HP:0011628 ! Congenital defect of the pericardium
created_by: peter
creation_date: 2012-04-08T10:06:57Z

[Term]
id: HP:0011631
name: Complete right sided absence of pericardium
def: "No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy." [DDD:dbrown]
xref: UMLS:C4023258
is_a: HP:0011628 ! Congenital defect of the pericardium
created_by: peter
creation_date: 2012-04-08T10:08:42Z

[Term]
id: HP:0011632
name: Partial right sided absence of pericardium
def: "A congenital anomaly with lack of part of the pericardium on the righthand side of the heart." [DDD:dbrown]
comment: A congenital anomaly and not the result of a pericardectomy.
xref: UMLS:C4023257
is_a: HP:0011628 ! Congenital defect of the pericardium
created_by: peter
creation_date: 2012-04-08T10:09:24Z

[Term]
id: HP:0011633
name: Complete left sided absence of pericardium
def: "A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart." [DDD:dbrown]
comment: A congenital anomaly and not the result of a pericardectomy.
synonym: "Absent lining around of left side of heart" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023256
is_a: HP:0011628 ! Congenital defect of the pericardium
created_by: peter
creation_date: 2012-04-08T10:11:03Z

[Term]
id: HP:0011634
name: Partial left sided absence of pericardium
def: "A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart." [DDD:dbrown]
comment: A congenital anomaly and not the result of a pericardectomy.
xref: UMLS:C4023255
is_a: HP:0011628 ! Congenital defect of the pericardium
created_by: peter
creation_date: 2012-04-08T10:11:59Z

[Term]
id: HP:0011635
name: Partial diaphragmatic absence of pericardium
def: "Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [DDD:dbrown]
xref: UMLS:C4023254
is_a: HP:0011628 ! Congenital defect of the pericardium
created_by: peter
creation_date: 2012-04-08T10:13:04Z

[Term]
id: HP:0011636
name: Abnormal coronary artery origin
def: "Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries." [DDD:dbrown]
xref: UMLS:C4023253
is_a: HP:0006704 ! Abnormal coronary artery morphology
created_by: peter
creation_date: 2012-04-09T08:32:24Z

[Term]
id: HP:0011637
name: Anomalous origin of coronary artery from the pulmonary artery
def: "A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta." [DDD:dbrown, HPO:probinson]
xref: UMLS:C4023252
is_a: HP:0011636 ! Abnormal coronary artery origin
created_by: peter
creation_date: 2012-04-09T08:33:57Z

[Term]
id: HP:0011638
name: Anomalous origin of left coronary artery from the pulmonary artery
def: "Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve." [DDD:dbrown, HPO:probinson, PMID:27358682]
comment: In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins.
synonym: "ALCAPA" EXACT HP:0045077 []
synonym: "Anomalous left coronary artery from the pulmonary artery" EXACT []
synonym: "Bland-Garland-White syndrome" EXACT []
xref: Fyler:3101
xref: SNOMEDCT_US:450301003
xref: UMLS:C3472166
is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery
created_by: peter
creation_date: 2012-04-09T08:40:53Z

[Term]
id: HP:0011639
name: Anomalous origin of right coronary artery from the pulmonary artery
def: "Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve." [DDD:dbrown, HPO:probinson]
xref: SNOMEDCT_US:450300002
xref: UMLS:C3472165
is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery
created_by: peter
creation_date: 2012-04-09T08:41:05Z

[Term]
id: HP:0011640
name: Single coronary artery origin
def: "The presence of a single coronary artery ostium from which both coronary arteries arise." [DDD:dbrown, HPO:probinson, pmid:4547578]
xref: UMLS:C4023251
is_a: HP:0011636 ! Abnormal coronary artery origin
created_by: peter
creation_date: 2012-04-09T08:44:38Z

[Term]
id: HP:0011641
name: Coronary artery fistula
def: "A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel." [DDD:dbrown, HPO:probinson, pmid:20513726]
comment: Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas.
synonym: "Coronary fistula" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:2230
xref: SNOMEDCT_US:373093003
xref: UMLS:C0265898
is_a: HP:0011686 ! Abnormal coronary artery course
created_by: peter
creation_date: 2012-04-09T08:54:51Z

[Term]
id: HP:0011642
name: Abnormal coronary sinus morphology
def: "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium." [DDD:dbrown, HPO:probinson]
synonym: "Abnormality of the coronary sinus" EXACT []
xref: Fyler:2840
xref: SNOMEDCT_US:253323000
xref: UMLS:C0344680
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
created_by: peter
creation_date: 2012-04-09T09:02:09Z

[Term]
id: HP:0011643
name: Coronary sinus atrial septal defect
def: "An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus." [DDD:dbrown, HPO:probinson, pmid:18806021]
xref: ICD-10:Q21.1
xref: UMLS:C2063331
is_a: HP:0011642 ! Abnormal coronary sinus morphology
created_by: peter
creation_date: 2012-04-09T09:07:42Z

[Term]
id: HP:0011644
name: Coronary sinus diverticulum
def: "A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus." [DDD:dbrown, pmid:3138904]
synonym: "Diverticulum of the coronary sinus" EXACT []
xref: SNOMEDCT_US:447661004
xref: UMLS:C3163894
is_a: HP:0011642 ! Abnormal coronary sinus morphology
created_by: peter
creation_date: 2012-04-09T09:12:28Z

[Term]
id: HP:0011645
name: Dilatation of the sinus of Valsalva
def: "Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve." [UBERON_0003707]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Aneurysm of the aortic sinus" NARROW [ORCID:0000-0001-6908-9849]
synonym: "Aortic sinus aneurysm" EXACT []
synonym: "Sinus of Valsalva aneurysm" NARROW []
xref: Fyler:2316
xref: SNOMEDCT_US:54160000
xref: UMLS:C2239253
is_a: HP:0004970 ! Ascending tubular aorta aneurysm
created_by: peter
creation_date: 2012-04-09T09:31:57Z

[Term]
id: HP:0011646
name: Juxtaductal coarctation of the aorta
def: "Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch." [DDD:dbrown, HPO:probinson]
comment: Juxtaductal coarctation usually presents when the ductus arteriosus closes.
xref: UMLS:C4023250
is_a: HP:0012305 ! Coarctation of the descending aortic arch
created_by: peter
creation_date: 2012-04-09T09:41:05Z

[Term]
id: HP:0011647
name: Postductal coarctation of the aorta
def: "Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch." [DDD:dbrown]
comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues.
synonym: "Postductal aortic coarctation" EXACT []
xref: SNOMEDCT_US:72242008
xref: UMLS:C0265879
is_a: HP:0012305 ! Coarctation of the descending aortic arch
created_by: peter
creation_date: 2012-04-09T09:49:36Z

[Term]
id: HP:0011648
name: Patent ductus arteriosus after birth at term
def: "Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater." [DDD:dbrown]
xref: UMLS:C4023249
is_a: HP:0001643 ! Patent ductus arteriosus
created_by: peter
creation_date: 2012-04-09T09:58:35Z

[Term]
id: HP:0011649
name: Patent ductus arteriosus after premature birth
def: "Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation." [DDD:dbrown]
xref: UMLS:C4023248
is_a: HP:0001643 ! Patent ductus arteriosus
created_by: peter
creation_date: 2012-04-09T09:59:59Z

[Term]
id: HP:0011650
name: Bilateral ductus arteriosus
def: "The presence of both a left and a right ductus arteriosus." [DDD:dbrown]
synonym: "Bilateral ductus botalli" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:461093009
xref: UMLS:C0431501
is_a: HP:0001643 ! Patent ductus arteriosus
created_by: peter
creation_date: 2012-04-09T10:00:51Z

[Term]
id: HP:0011651
name: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
def: "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with doubly committed VSD and pulmonary stenosis" EXACT [PMID:6193702]
xref: SNOMEDCT_US:448516008
xref: UMLS:C3165091
is_a: HP:0001719 ! Double outlet right ventricle
created_by: peter
creation_date: 2012-04-09T10:02:22Z

[Term]
id: HP:0011652
name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
def: "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with doubly committed VSD" EXACT [PMID:10798433]
synonym: "Double outlet right ventricle, doubly committed ventricular septal defect" EXACT []
xref: Fyler:0604
xref: Fyler:604
xref: UMLS:C4023247
is_a: HP:0001719 ! Double outlet right ventricle
created_by: peter
creation_date: 2012-04-09T10:05:46Z

[Term]
id: HP:0011653
name: Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853]
synonym: "DORV with non-committed VSD and pulmonary stenosis" EXACT []
xref: UMLS:C4023246
is_a: HP:0001719 ! Double outlet right ventricle
created_by: peter
creation_date: 2012-04-09T10:06:15Z

[Term]
id: HP:0011654
name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853]
synonym: "DORV with non-committed VSD without pulmonary stenosis" EXACT []
synonym: "Double outlet right ventricle, noncommitted ventricular septal defect" EXACT []
xref: Fyler:0603
xref: Fyler:603
xref: UMLS:C4023245
is_a: HP:0001719 ! Double outlet right ventricle
created_by: peter
creation_date: 2012-04-09T10:06:32Z

[Term]
id: HP:0011655
name: Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with subaortic VSD and pulmonary stenosis" EXACT []
xref: UMLS:C4023244
is_a: HP:0001719 ! Double outlet right ventricle
created_by: peter
creation_date: 2012-04-09T10:06:46Z

[Term]
id: HP:0011656
name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with subaortic VSD without pulmonary stenosis" EXACT []
xref: UMLS:C4023243
is_a: HP:0001719 ! Double outlet right ventricle
created_by: peter
creation_date: 2012-04-09T10:07:00Z

[Term]
id: HP:0011657
name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702]
synonym: "DORV with subpulmonary VSD and pulmonary stenosis" EXACT []
xref: UMLS:C4023242
is_a: HP:0001719 ! Double outlet right ventricle
created_by: peter
creation_date: 2012-04-09T10:07:16Z

[Term]
id: HP:0011658
name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:20069085, PMID:6193702]
synonym: "DORV with subpulmonary VSD without pulmonary stenosis" EXACT HP:0045077 []
synonym: "Taussig-Bing anomaly" EXACT []
xref: UMLS:C4023241
is_a: HP:0001719 ! Double outlet right ventricle
created_by: peter
creation_date: 2012-04-09T10:07:31Z

[Term]
id: HP:0011659
name: Tetralogy of Fallot with absent pulmonary valve
def: "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue." [DDD:dbrown]
synonym: "Tetralogy of Fallot with absent pulmonary valve syndrome" EXACT []
xref: SNOMEDCT_US:399228007
xref: UMLS:C1302264
is_a: HP:0001636 ! Tetralogy of Fallot
is_a: HP:0005134 ! Absence of the pulmonary valve
created_by: peter
creation_date: 2012-04-09T10:15:04Z

[Term]
id: HP:0011660
name: Anomalous origin of one pulmonary artery from ascending aorta
def: "Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle." [DDD:dbrown, pmid:2590592]
comment: Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle.
synonym: "Hemitruncus" EXACT []
xref: Fyler:0550
xref: Fyler:550
xref: UMLS:C4021134
is_a: HP:0030966 ! Abnormal pulmonary artery morphology
created_by: peter
creation_date: 2012-04-09T10:34:29Z

[Term]
id: HP:0011661
name: Anomalous origin of left pulmonary artery from ascending aorta
def: "The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [DDD:dbrown]
xref: SNOMEDCT_US:253637002
xref: UMLS:C0345040
is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta
created_by: peter
creation_date: 2012-04-09T10:42:23Z

[Term]
id: HP:0011662
name: Tricuspid atresia
def: "Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle." [DDD:dbrown, HPO:probinson]
synonym: "Tricuspid valve atresia" EXACT [ORCID:0000-0001-5208-3432]
xref: EPCC:06.01.01
xref: Fyler:0400
xref: Fyler:400
xref: ICD-10:Q22.4
xref: MSH:D018785
xref: SNOMEDCT_US:253455004
xref: SNOMEDCT_US:63042009
xref: UMLS:C0243002
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
created_by: peter
creation_date: 2012-04-09T10:45:29Z

[Term]
id: HP:0011663
name: Right ventricular cardiomyopathy
def: "Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease." [HPO:probinson, pmid:17916581]
comment: This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria.
synonym: "Cardiomyopathy, esp. right ventricular" RELATED [HPO:skoehler]
synonym: "Cardiomyopathy, right ventricular" EXACT [HPO:skoehler]
xref: UMLS:C2063326
is_a: HP:0001638 ! Cardiomyopathy
created_by: peter
creation_date: 2012-04-09T11:14:59Z

[Term]
id: HP:0011664
name: Left ventricular noncompaction cardiomyopathy
def: "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [pmid:17916581]
comment: Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development.
synonym: "Left ventricular non-compaction cardiomyopathy" EXACT []
xref: UMLS:C4021133
is_a: HP:0012817 ! Noncompaction cardiomyopathy
created_by: peter
creation_date: 2012-04-09T11:31:40Z

[Term]
id: HP:0011665
name: Takotsubo cardiomyopathy
def: "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." [pmid:17916581]
synonym: "Broken-heart syndrome" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D054549
xref: SNOMEDCT_US:441541008
xref: UMLS:C1739395
is_a: HP:0001638 ! Cardiomyopathy
created_by: peter
creation_date: 2012-04-09T11:39:40Z

[Term]
id: HP:0011666
name: Absent right superior vena cava
def: "Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium." [DDD:dbrown, pmid:17578953, pmid:19808620, pmid:20532458]
comment: The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck.
xref: SNOMEDCT_US:253308005
xref: UMLS:C0344656
is_a: HP:0005301 ! Persistent left superior vena cava
created_by: peter
creation_date: 2012-04-09T11:43:46Z

[Term]
id: HP:0011667
name: Bilateral superior vena cava with bridging vein
xref: UMLS:C4023240
is_a: HP:0005301 ! Persistent left superior vena cava
created_by: peter
creation_date: 2012-04-09T12:00:46Z

[Term]
id: HP:0011668
name: Bilateral superior vena cava with no bridging vein
xref: UMLS:C4023239
is_a: HP:0005301 ! Persistent left superior vena cava
created_by: peter
creation_date: 2012-04-09T12:01:33Z

[Term]
id: HP:0011669
name: Left superior vena cava draining directly to the left atrium
def: "A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt." [PMID:18847480]
xref: UMLS:C4023238
is_a: HP:0005301 ! Persistent left superior vena cava
created_by: peter
creation_date: 2012-04-09T12:02:06Z

[Term]
id: HP:0011670
name: Left superior vena cava draining to coronary sinus
def: "A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence." [PMID:18847480]
xref: ICD-10:Q26.1
xref: UMLS:C2677768
is_a: HP:0005301 ! Persistent left superior vena cava
created_by: peter
creation_date: 2012-04-09T12:02:58Z

[Term]
id: HP:0011671
name: Interrupted inferior vena cava with azygous continuation
def: "Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava." [DDD:dbrown, pmid:10550884]
xref: ICD-10:26.8
xref: UMLS:C4023237
is_a: HP:0025576 ! Abnormal inferior vena cava morphology
created_by: peter
creation_date: 2012-04-09T12:04:06Z

[Term]
id: HP:0011672
name: Cardiac myxoma
def: "A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber." [HPO:probinson, pmid:7477198]
xref: NCIT:C6577
xref: SNOMEDCT_US:426191007
xref: UMLS:C1960546
is_a: HP:0100544 ! Neoplasm of the heart
created_by: peter
creation_date: 2012-04-09T12:10:35Z

[Term]
id: HP:0011673
name: Cardiac hemangioma
def: "Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium." [DDD:dbrown]
xref: NCIT:C3085
xref: UMLS:C1707298
is_a: HP:0410266 ! Visceral hemangioma
created_by: peter
creation_date: 2012-04-09T12:20:13Z

[Term]
id: HP:0011674
name: Cardiac teratoma
def: "A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone." [HPO:probinson, pmid:17331235]
xref: NCIT:C3403
xref: UMLS:C1112387
is_a: HP:0009792 ! Teratoma
is_a: HP:0100544 ! Neoplasm of the heart
created_by: peter
creation_date: 2012-04-09T12:33:29Z

[Term]
id: HP:0011675
name: Arrhythmia
alt_id: HP:0001656
alt_id: HP:0001661
alt_id: HP:0001665
alt_id: HP:0001666
alt_id: HP:0001675
alt_id: HP:0001687
alt_id: HP:0001721
alt_id: HP:0004351
alt_id: HP:0005158
def: "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
synonym: "Abnormal heart rate" EXACT layperson []
synonym: "Abnormality of cardiac conduction" EXACT []
synonym: "Arrhythmias" EXACT []
synonym: "Cardiac arrhythmia" EXACT []
synonym: "Cardiac arrhythmias" EXACT []
synonym: "Cardiac conduction abnormalities" EXACT []
synonym: "Cardiac conduction defects" EXACT []
synonym: "Cardiac rhythm disturbances" EXACT []
synonym: "Heart rhythm disorders" EXACT layperson []
synonym: "Irregular heart beat" EXACT layperson []
synonym: "Irregular heartbeat" EXACT layperson []
xref: MSH:C562490
xref: MSH:D001145
xref: SNOMEDCT_US:102594003
xref: SNOMEDCT_US:44808001
xref: SNOMEDCT_US:698247007
xref: UMLS:C0003811
xref: UMLS:C0264886
xref: UMLS:C0522055
xref: UMLS:C0855329
xref: UMLS:C1832603
xref: UMLS:C1842820
is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology
created_by: peter
creation_date: 2012-04-09T12:47:32Z

[Term]
id: HP:0011676
name: Tetralogy of Fallot with absent subarterial conus
xref: UMLS:C4023236
is_a: HP:0001636 ! Tetralogy of Fallot
created_by: peter
creation_date: 2012-04-10T07:40:33Z

[Term]
id: HP:0011677
name: Tetralogy of Fallot with atrioventricular canal defect
xref: UMLS:C4023235
is_a: HP:0001636 ! Tetralogy of Fallot
created_by: peter
creation_date: 2012-04-10T07:41:53Z

[Term]
id: HP:0011678
name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries
def: "A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA)." [HPO:probinson, pmid:22368654]
comment: Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery.
xref: UMLS:C4023234
is_a: HP:0012516 ! Tetralogy of Fallot with pulmonary atresia
created_by: peter
creation_date: 2012-04-10T07:43:01Z

[Term]
id: HP:0011679
name: Tetralogy of Fallot with pulmonary stenosis
def: "The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus." [HPO:probinson]
xref: SNOMEDCT_US:253512000
xref: UMLS:C0344881
is_a: HP:0001636 ! Tetralogy of Fallot
created_by: peter
creation_date: 2012-04-10T07:44:06Z

[Term]
id: HP:0011680
name: Single ventricle of indeterminate morphology
xref: UMLS:C4023233
is_a: HP:0001750 ! Single ventricle
created_by: peter
creation_date: 2012-04-10T08:02:28Z

[Term]
id: HP:0011681
name: Subarterial ventricular septal defect
def: "A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum." [DDD:dbrown, pmid:10798413]
synonym: "Conal ventricular septal defect" EXACT []
synonym: "Doubly committed ventricular septal defect" EXACT []
synonym: "Infundibular ventricular septal defect" EXACT []
synonym: "Supracristal ventricular septal defect" EXACT []
synonym: "Type 1 ventricular septal defect" EXACT []
xref: Fyler:1330
xref: SNOMEDCT_US:448876006
xref: UMLS:C3165130
is_a: HP:0001629 ! Ventricular septal defect
created_by: peter
creation_date: 2012-04-10T08:09:32Z

[Term]
id: HP:0011682
name: Perimembranous ventricular septal defect
def: "A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs." [DDD:dbrown, pmid:10798413]
synonym: "Conoventricular ventricular septal defect" EXACT []
synonym: "Membranous ventricular septal defect" EXACT []
synonym: "Paramembranous ventricular septal defect" EXACT []
synonym: "Perimembraneous ventricular septal defect" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Type 2 ventricular septal defect" EXACT []
synonym: "Ventricular septal defect, perimembranous" RELATED [HPO:skoehler]
xref: Fyler:1310
xref: SNOMEDCT_US:109428005
xref: UMLS:C0344925
is_a: HP:0001629 ! Ventricular septal defect
created_by: peter
creation_date: 2012-04-10T08:21:13Z

[Term]
id: HP:0011683
name: Restrictive ventricular septal defect
def: "Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD." [DDD:dbrown, pmid:10798413]
comment: This term can be used in addition to another term describing the morphology of a VSD.
xref: SNOMEDCT_US:253551005
xref: UMLS:C0344924
is_a: HP:0001629 ! Ventricular septal defect
created_by: peter
creation_date: 2012-04-10T08:26:59Z

[Term]
id: HP:0011684
name: Non-restrictive ventricular septal defect
def: "Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD." [DDD:dbrown]
comment: This term can be used in addition to another term describing the morphology of a VSD.
xref: SNOMEDCT_US:373131000
xref: UMLS:C1298817
is_a: HP:0001629 ! Ventricular septal defect
created_by: peter
creation_date: 2012-04-10T08:29:05Z

[Term]
id: HP:0011685
name: Infra-aortic superior vena cava
def: "The superior vena cava passes below the aortic arch." [DDD:dbrown]
comment: The superior vena cava normally crosses superior and anterior to the aorta.
xref: UMLS:C4023232
is_a: HP:0025575 ! Abnormal superior vena cava morphology
created_by: peter
creation_date: 2012-04-10T08:36:00Z

[Term]
id: HP:0011686
name: Abnormal coronary artery course
def: "An abnormal path of a coronary artery." [DDD:dbrown]
synonym: "Anomalous coronary artery course" RELATED []
xref: SNOMEDCT_US:253714001
xref: UMLS:C0345122
is_a: HP:0006704 ! Abnormal coronary artery morphology
created_by: peter
creation_date: 2012-04-10T08:37:35Z

[Term]
id: HP:0011687
name: AV nodal tachycardia
def: "A type of supraventricular tachycardia that originates in the atrioventricular node." [DDD:dbrown, PMID:20733110]
synonym: "Atrioventricular nodal tachycardia" EXACT []
synonym: "AV nodal tachycardia" EXACT HP:0045077 []
xref: UMLS:C0857265
is_a: HP:0004755 ! Supraventricular tachycardia
created_by: peter
creation_date: 2012-04-10T08:45:26Z

[Term]
id: HP:0011688
name: Supraventricular tachycardia with an accessory connection mediated pathway
def: "Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism." [PMID:22459483]
synonym: "Atrioventricular re-entry tachycardia" EXACT []
xref: UMLS:C4021132
is_a: HP:0004755 ! Supraventricular tachycardia
created_by: peter
creation_date: 2012-04-10T10:33:56Z

[Term]
id: HP:0011689
name: Supraventricular tachycardia with a concealed accessory connection
def: "Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm." [PMID:22459483]
xref: UMLS:C4023231
is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway
created_by: peter
creation_date: 2012-04-10T10:35:31Z

[Term]
id: HP:0011690
name: Permanent junctional reciprocating tachycardia
def: "An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction." [PMID:15831598]
xref: SNOMEDCT_US:233904005
xref: UMLS:C0340483
is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection
created_by: peter
creation_date: 2012-04-10T10:36:06Z

[Term]
id: HP:0011691
name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall
xref: UMLS:C4023230
is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection
created_by: peter
creation_date: 2012-04-10T10:36:49Z

[Term]
id: HP:0011692
name: Supraventricular tachycardia with a concealed accessory pathway on the right free wall
xref: UMLS:C4023229
is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection
created_by: peter
creation_date: 2012-04-10T10:37:37Z

[Term]
id: HP:0011693
name: Supraventricular tachycardia with a concealed accessory pathway on the septum
xref: UMLS:C4023228
is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection
created_by: peter
creation_date: 2012-04-10T10:38:07Z

[Term]
id: HP:0011694
name: Supraventricular tachycardia with a manifest accessory pathway
xref: UMLS:C4023227
is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway
created_by: peter
creation_date: 2012-04-10T10:38:53Z

[Term]
id: HP:0011695
name: Cerebellar hemorrhage
def: "Hemorrhage into the parenchyma of the cerebellum." [HPO:probinson]
xref: SNOMEDCT_US:75038005
xref: UMLS:C0149854
is_a: HP:0002170 ! Intracranial hemorrhage
created_by: peter
creation_date: 2012-04-10T10:46:25Z

[Term]
id: HP:0011696
name: Supraventricular tachycardia with a manifest accessory pathway on the left free wall
xref: UMLS:C4023226
is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway
created_by: peter
creation_date: 2012-04-10T10:57:34Z

[Term]
id: HP:0011697
name: Supraventricular tachycardia with a manifest accessory pathway on the right free wall
xref: UMLS:C4023225
is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway
created_by: peter
creation_date: 2012-04-10T10:59:00Z

[Term]
id: HP:0011698
name: Supraventricular tachycardia with a manifest accessory pathway on the septum
xref: UMLS:C4023224
is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway
created_by: peter
creation_date: 2012-04-10T10:59:45Z

[Term]
id: HP:0011699
name: Atrial reentry tachycardia
xref: UMLS:C4023223
is_a: HP:0001692 ! Atrial arrhythmia
created_by: peter
creation_date: 2012-04-10T11:15:27Z

[Term]
id: HP:0011700
name: Automatic atrial tachycardia
def: "Chronic supraventricular tachycardia predominantly seen in childhood." [PMID:4019927]
xref: MSH:D013612
xref: SNOMEDCT_US:233892002
xref: UMLS:C0039234
is_a: HP:0001692 ! Atrial arrhythmia
created_by: peter
creation_date: 2012-04-10T11:19:33Z

[Term]
id: HP:0011701
name: Multifocal atrial tachycardia
def: "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." [ORPHA:3282]
synonym: "Chaotic atrial tachycardia" EXACT [ORPHA:3282, PMID:5451226]
synonym: "Ectopic atrial tachycardia" EXACT []
xref: SNOMEDCT_US:49982000
xref: UMLS:C0221158
is_a: HP:0001692 ! Atrial arrhythmia
created_by: peter
creation_date: 2012-04-10T11:20:13Z

[Term]
id: HP:0011702
name: Abnormal electrophysiology of sinoatrial node origin
def: "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart." [HPO:probinson]
xref: Fyler:7010
xref: UMLS:C4023222
is_a: HP:0011675 ! Arrhythmia
created_by: peter
creation_date: 2012-04-10T11:22:43Z

[Term]
id: HP:0011703
name: Sinus tachycardia
def: "Heart rate of greater than 100 beats per minute." []
synonym: "Sinus tach" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Sinus tachy" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D013616
xref: SNOMEDCT_US:11092001
xref: UMLS:C0039239
is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin
created_by: peter
creation_date: 2012-04-10T11:30:45Z

[Term]
id: HP:0011704
name: Sick sinus syndrome
def: "An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress." [PMID:17420362]
synonym: "Sinoatrial node disease" EXACT []
xref: MSH:D012804
xref: SNOMEDCT_US:36083008
xref: UMLS:C0037052
is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin
is_a: HP:0012722 ! Heart block
created_by: peter
creation_date: 2012-04-10T11:31:17Z

[Term]
id: HP:0011705
name: First degree atrioventricular block
def: "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." [DDD:dbrown, HPO:probinson]
comment: The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children.
xref: SNOMEDCT_US:270492004
xref: UMLS:C0085614
is_a: HP:0001678 ! Atrioventricular block
created_by: peter
creation_date: 2012-04-11T07:17:18Z

[Term]
id: HP:0011706
name: Second degree atrioventricular block
def: "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [DDD:dbrown, HPO:probinson]
xref: SNOMEDCT_US:195042002
xref: UMLS:C0264906
is_a: HP:0001678 ! Atrioventricular block
created_by: peter
creation_date: 2012-04-11T07:22:35Z

[Term]
id: HP:0011707
name: Mobitz I atrioventricular block
def: "Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals)." [DDD:dbrown, HPO:probinson]
comment: Mobitz I atrioventricular block is associated with a normal QRS duration.
synonym: "Mobitz type 1 atrioventricular block" EXACT []
synonym: "Wenckebach block" EXACT []
xref: SNOMEDCT_US:54016002
xref: UMLS:C0264907
is_a: HP:0011706 ! Second degree atrioventricular block
created_by: peter
creation_date: 2012-04-11T07:25:17Z

[Term]
id: HP:0011708
name: Mobitz II atrioventricular block
def: "A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval." [DDD:dbrown, HPO:probinson]
comment: Mobitz I atrioventricular block is usually associated with a prolonged QRS duration.
synonym: "Mobitz type 2 atrioventricular block" EXACT []
xref: SNOMEDCT_US:28189009
xref: UMLS:C0155700
is_a: HP:0011706 ! Second degree atrioventricular block
created_by: peter
creation_date: 2012-04-11T07:34:09Z

[Term]
id: HP:0011709
name: Atrioventricular dissociation
def: "Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance." [HPO:probinson]
comment: Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it.
xref: MSH:D006327
xref: SNOMEDCT_US:50799005
xref: UMLS:C0004331
is_a: HP:0005150 ! Abnormal atrioventricular conduction
created_by: peter
creation_date: 2012-04-11T07:46:37Z

[Term]
id: HP:0011710
name: Bundle branch block
def: "Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches." [DDD:dbrown, HPO:probinson]
comment: The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. THe Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex.
synonym: "Bundle-branch block" EXACT []
xref: MSH:D002037
xref: SNOMEDCT_US:6374002
xref: UMLS:C0006384
is_a: HP:0012722 ! Heart block
created_by: peter
creation_date: 2012-04-11T07:55:50Z

[Term]
id: HP:0011711
name: Left anterior fascicular block
def: "Conduction block in the anterior division of the left bundle branch of the bundle of His." [DDD:dbrown]
synonym: "Left anterior hemiblock" EXACT []
xref: SNOMEDCT_US:37760005
xref: UMLS:C0264912
is_a: HP:0011713 ! Left bundle branch block
created_by: peter
creation_date: 2012-04-11T08:02:03Z

[Term]
id: HP:0011712
name: Right bundle branch block
def: "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [DDD:dbrown, HPO:probinson]
synonym: "Right bundle-branch block" EXACT []
xref: MSH:D002037
xref: SNOMEDCT_US:59118001
xref: UMLS:C0085615
is_a: HP:0011710 ! Bundle branch block
created_by: peter
creation_date: 2012-04-11T08:02:08Z

[Term]
id: HP:0011713
name: Left bundle branch block
def: "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [DDD:dbrown, HPO:probinson]
xref: MSH:D002037
xref: SNOMEDCT_US:63467002
xref: UMLS:C0023211
is_a: HP:0011710 ! Bundle branch block
created_by: peter
creation_date: 2012-04-11T08:04:34Z

[Term]
id: HP:0011714
name: Libman-Sacks lesions
def: "Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve." [pmid:18421506]
comment: Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus.
xref: UMLS:C4023221
is_a: HP:0100584 ! Endocarditis
created_by: peter
creation_date: 2012-04-11T10:11:39Z

[Term]
id: HP:0011715
name: Trifascicular block
def: "Abnormal conduction in all three divisions of the intraventricular conducting tissue." [DDD:dbrown]
xref: SNOMEDCT_US:86014007
xref: UMLS:C0155707
is_a: HP:0011710 ! Bundle branch block
created_by: peter
creation_date: 2012-04-11T08:10:14Z

[Term]
id: HP:0011716
name: Junctional ectopic tachycardia
def: "Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern." [PMID:22826742]
xref: MSH:D013613
xref: SNOMEDCT_US:233901002
xref: SNOMEDCT_US:419166005
xref: UMLS:C0039235
is_a: HP:0011687 ! AV nodal tachycardia
created_by: peter
creation_date: 2012-04-11T08:42:28Z

[Term]
id: HP:0011717
name: Atrioventricular reentrant tachycardia
def: "Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove." []
synonym: "AV nodal reentry tachycardia" EXACT []
xref: UMLS:C4023220
is_a: HP:0011687 ! AV nodal tachycardia
created_by: peter
creation_date: 2012-04-11T08:42:52Z

[Term]
id: HP:0011718
name: Abnormality of the pulmonary veins
def: "An abnormality of the pulmonary veins." [HPO:probinson]
comment: The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium.
synonym: "Abnormality of lung veins" EXACT layperson []
xref: SNOMEDCT_US:111322000
xref: SNOMEDCT_US:128585006
xref: SNOMEDCT_US:199113001
xref: UMLS:C0265914
is_a: HP:0004930 ! Abnormality of the pulmonary vasculature
created_by: peter
creation_date: 2012-04-11T08:45:48Z

[Term]
id: HP:0011719
name: Supracardiac total anomalous pulmonary venous connection
def: "Type 1 total anomalous pulmonary venous connection." [DDD:dbrown]
synonym: "Total anomalous pulmonary venous connection, supracardiac" EXACT []
synonym: "Type 1 total anomalous pulmonary venous connection" EXACT []
xref: Fyler:0910
xref: Fyler:910
xref: UMLS:C4021131
is_a: HP:0005160 ! Total anomalous pulmonary venous return
created_by: peter
creation_date: 2012-04-11T08:50:39Z

[Term]
id: HP:0011720
name: Cardiac total anomalous pulmonary venous connection
def: "Type 2 total anomalous pulmonary venous connection." [DDD:dbrown]
synonym: "Total anomalous pulmonary venous connection, intracardiac" EXACT []
synonym: "Type 2 total anomalous pulmonary venous connection" EXACT []
xref: Fyler:0920
xref: Fyler:0930
xref: Fyler:920
xref: Fyler:930
xref: UMLS:C4021130
is_a: HP:0005160 ! Total anomalous pulmonary venous return
created_by: peter
creation_date: 2012-04-11T08:51:32Z

[Term]
id: HP:0011721
name: Infracardiac total anomalous pulmonary venous connection
def: "Type 3 total anomalous pulmonary venous connection." [DDD:dbrown]
synonym: "Type 3 total anomalous pulmonary venous connection" EXACT []
xref: UMLS:C4021129
is_a: HP:0005160 ! Total anomalous pulmonary venous return
created_by: peter
creation_date: 2012-04-11T08:52:28Z

[Term]
id: HP:0011722
name: Mixed total anomalous pulmonary venous connection
def: "Type 4 total anomalous pulmonary venous connection." [DDD:dbrown]
synonym: "Total anomalous pulmonary venous connection, mixed" EXACT []
synonym: "Type 4 total anomalous pulmonary venous connection" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:0950
xref: Fyler:950
xref: UMLS:C4021128
is_a: HP:0005160 ! Total anomalous pulmonary venous return
created_by: peter
creation_date: 2012-04-11T08:53:37Z

[Term]
id: HP:0011723
name: Congenital malformation of the right heart
def: "Defect or defects of the morphogenesis of the right heart identifiable at birth." []
xref: UMLS:C4023219
is_a: HP:0001627 ! Abnormal heart morphology
created_by: peter
creation_date: 2012-04-11T08:56:19Z

[Term]
id: HP:0011724
name: Uhl's anomaly
def: "Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium." [PMID:10859296, PMID:16322929]
xref: MSH:C536932
xref: SNOMEDCT_US:2829000
xref: UMLS:C0265857
is_a: HP:0011723 ! Congenital malformation of the right heart
created_by: peter
creation_date: 2012-04-11T08:59:07Z

[Term]
id: HP:0011725
name: Chaotic multifocal atrial tachycardia
xref: UMLS:C4023218
is_a: HP:0001692 ! Atrial arrhythmia
created_by: peter
creation_date: 2012-04-11T09:01:14Z

[Term]
id: HP:0011726
name: Persistent fetal circulation
def: "Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course." [DDD:dbrown]
xref: MSH:D010547
xref: SNOMEDCT_US:206597007
xref: SNOMEDCT_US:233815004
xref: SNOMEDCT_US:35604006
xref: UMLS:C0031190
is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system
created_by: peter
creation_date: 2012-04-11T09:02:26Z

[Term]
id: HP:0011727
name: Peroneal muscle weakness
def: "Weakness of the peroneal muscles." [HPO:probinson]
comment: THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side.
synonym: "Fibularis muscle weakness" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C0240733
is_a: HP:0009053 ! Distal lower limb muscle weakness
created_by: peter
creation_date: 2012-04-11T10:26:15Z

[Term]
id: HP:0011728
name: Elbow clonus
def: "Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint." [HPO:probinson]
xref: UMLS:C4023217
is_a: HP:0002169 ! Clonus
created_by: peter
creation_date: 2012-04-17T08:56:48Z

[Term]
id: HP:0011729
name: Abnormality of joint mobility
def: "An abnormality in the range and ease of motion of joints across their normal range." [HPO:probinson]
xref: UMLS:C4023216
is_a: HP:0001367 ! Abnormal joint morphology
created_by: peter
creation_date: 2012-04-18T07:09:28Z

[Term]
id: HP:0011730
name: Abnormality of central sensory function
def: "An abnormality of cortical sensation. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function usually indicates a lesion of a parietal cortex or of the thalamocortical projections to the parietal cortex." [HPO:probinson]
xref: UMLS:C4023215
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: peter
creation_date: 2012-04-19T07:44:18Z

[Term]
id: HP:0011731
name: Abnormality of circulating cortisol level
def: "An abnormality of the concentration of cortisol in the blood." [HPO:probinson]
xref: UMLS:C4023214
is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level
created_by: peter
creation_date: 2012-04-21T07:59:26Z

[Term]
id: HP:0011732
name: Abnormality of adrenal morphology
def: "Any structural anomaly of the adrenal glands." [HPO:probinson]
xref: UMLS:C4023213
is_a: HP:0000834 ! Abnormality of the adrenal glands
created_by: peter
creation_date: 2012-04-21T08:04:29Z

[Term]
id: HP:0011733
name: Abnormality of adrenal physiology
alt_id: HP:0002855
def: "A functional abnormality of the adrenal glands." [HPO:probinson]
xref: UMLS:C4023212
is_a: HP:0000834 ! Abnormality of the adrenal glands
created_by: peter
creation_date: 2012-04-21T08:05:42Z

[Term]
id: HP:0011734
name: Central adrenal insufficiency
def: "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [DDD:spark]
synonym: "Secondary adrenal insufficiency" EXACT []
xref: UMLS:C0948387
is_a: HP:0000846 ! Adrenal insufficiency
created_by: peter
creation_date: 2012-04-21T08:26:19Z

[Term]
id: HP:0011735
name: Adrenocorticotropin deficient adrenal insufficiency
def: "Adrenal insufficiency secondary to a defect in ACTH production." [DDD:spark]
synonym: "ACTH deficient adrenal insufficiency" EXACT []
xref: UMLS:C4023211
is_a: HP:0011734 ! Central adrenal insufficiency
created_by: peter
creation_date: 2012-04-21T09:06:46Z

[Term]
id: HP:0011736
name: Primary hyperaldosteronism
def: "A form of hyperaldosteronism caused by a defect within the adrenal gland." [DDD:spark]
xref: MSH:D006929
xref: SNOMEDCT_US:190507007
xref: SNOMEDCT_US:258117004
xref: UMLS:C1384514
is_a: HP:0000859 ! Hyperaldosteronism
created_by: peter
creation_date: 2012-04-21T09:26:05Z

[Term]
id: HP:0011737
name: Corticotropin-releasing hormone deficient adrenal insufficiency
def: "Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production." [DDD:spark]
synonym: "CRH deficient adrenal insufficiency" EXACT []
synonym: "Tertiary adrenal insufficiency" EXACT []
xref: UMLS:C4021127
is_a: HP:0011734 ! Central adrenal insufficiency
created_by: peter
creation_date: 2012-04-21T09:09:56Z

[Term]
id: HP:0011738
name: Corticotropin-releasing hormone receptor defect
def: "Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor." [DDD:spark]
synonym: "Corticotropin-releasing hormone receptor (CRHR) resistance" RELATED []
synonym: "CRHR defect" EXACT []
xref: UMLS:C4020745
xref: UMLS:C4023210
is_a: HP:0011734 ! Central adrenal insufficiency
created_by: peter
creation_date: 2012-04-21T09:11:04Z

[Term]
id: HP:0011739
name: Dexamethasone-suppressible primary hyperaldosteronism
def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [DDD:spark, HPO:probinson]
synonym: "Familial primary hyperaldosteronism type 1" RELATED []
synonym: "Glucocorticoid-remediable familial primary aldosteronism" RELATED []
xref: UMLS:C4020743
xref: UMLS:C4020744
xref: UMLS:C4023209
is_a: HP:0011736 ! Primary hyperaldosteronism
created_by: peter
creation_date: 2012-04-21T09:27:36Z

[Term]
id: HP:0011740
name: Glucocortocoid-insensitive primary hyperaldosteronism
def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids." [DDD:spark, HPO:probinson]
synonym: "Familial primary hyperaldosteronism type 2" RELATED []
xref: UMLS:C4020742
xref: UMLS:C4023208
is_a: HP:0011736 ! Primary hyperaldosteronism
created_by: peter
creation_date: 2012-04-21T09:29:51Z

[Term]
id: HP:0011741
name: Secondary hyperaldosteronism
def: "A form of hyperaldosteronism caused by abnormally increased renin levels." [DDD:spark]
synonym: "Hyperreninemic hyperaldosteronism" EXACT []
xref: SNOMEDCT_US:67805000
xref: UMLS:C0271728
is_a: HP:0000859 ! Hyperaldosteronism
created_by: peter
creation_date: 2012-04-21T09:32:28Z

[Term]
id: HP:0011742
name: Ectopic adrenal gland
def: "Abnormal anatomical location of the adrenal gland." [DDD:spark]
synonym: "Abnormal adrenal gland position" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:49494003
xref: UMLS:C0266275
is_a: HP:0011732 ! Abnormality of adrenal morphology
created_by: peter
creation_date: 2012-04-21T09:45:15Z

[Term]
id: HP:0011743
name: Adrenal gland agenesis
def: "Absent development of the adrenal gland." [DDD:spark]
xref: MSH:C538429
xref: SNOMEDCT_US:702615004
xref: SNOMEDCT_US:83190008
xref: UMLS:C0266273
is_a: HP:0008216 ! Adrenal gland dysgenesis
created_by: peter
creation_date: 2012-04-21T09:46:49Z

[Term]
id: HP:0011744
name: Secondary hypercortisolism
def: "Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol." [HPO:probinson]
synonym: "ACTH-dependent hypercortisolemia" RELATED []
xref: UMLS:C4020741
xref: UMLS:C4023207
is_a: HP:0003118 ! Increased circulating cortisol level
created_by: peter
creation_date: 2012-04-21T11:46:27Z

[Term]
id: HP:0011745
name: Non-secretory adrenocortical adenoma
def: "An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones." [DDD:spark]
synonym: "Non-secretory adrenal adenoma" EXACT []
xref: UMLS:C4021126
is_a: HP:0008256 ! Adrenocortical adenoma
created_by: peter
creation_date: 2012-04-21T11:55:18Z

[Term]
id: HP:0011746
name: Secretory adrenocortical adenoma
def: "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones." [DDD:spark]
synonym: "Secretory adrenal adenoma" EXACT []
xref: UMLS:C4021125
is_a: HP:0008256 ! Adrenocortical adenoma
created_by: peter
creation_date: 2012-04-21T11:58:38Z

[Term]
id: HP:0011747
name: Abnormality of the anterior pituitary
def: "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [DDD:spark]
synonym: "Pituitary disease" RELATED []
xref: MSH:D010900
xref: SNOMEDCT_US:399244003
xref: UMLS:C0032002
xref: UMLS:C4023206
is_a: HP:0012503 ! Abnormality of the pituitary gland
created_by: peter
creation_date: 2012-04-22T11:17:00Z

[Term]
id: HP:0011748
name: Adrenocorticotropic hormone deficiency
def: "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark]
synonym: "ACTH deficiency" EXACT []
synonym: "Corticotropin deficiency" EXACT []
xref: MSH:C535668
xref: SNOMEDCT_US:237692001
xref: UMLS:C0342388
is_a: HP:0000830 ! Anterior hypopituitarism
created_by: peter
creation_date: 2012-04-22T11:27:04Z

[Term]
id: HP:0011749
name: Adrenocorticotropic hormone excess
def: "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [DDD:spark]
comment: This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744.
synonym: "ACTH excess" EXACT []
xref: UMLS:C4021124
is_a: HP:0010514 ! Hyperpituitarism
created_by: peter
creation_date: 2012-04-22T01:09:54Z

[Term]
id: HP:0011750
name: Neoplasm of the anterior pituitary
def: "A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [DDD:spark]
synonym: "Neoplasm of the adenohypophysis" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Neoplasm of the pars anterior" EXACT [ORCID:0000-0001-6908-9849]
xref: NCIT:C3262
xref: UMLS:C4023205
is_a: HP:0011747 ! Abnormality of the anterior pituitary
is_a: HP:0040277 ! Neoplasm of the pituitary gland
created_by: peter
creation_date: 2012-04-22T01:18:46Z

[Term]
id: HP:0011751
name: Abnormality of the posterior pituitary
def: "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [DDD:spark, HPO:probinson]
synonym: "Abnormality of the neurohypophysis" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023204
is_a: HP:0012503 ! Abnormality of the pituitary gland
created_by: peter
creation_date: 2012-04-22T01:20:33Z

[Term]
id: HP:0011752
name: Neoplasm of the posterior pituitary
def: "The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [DDD:spark]
synonym: "Neoplasm of the neurohypophysis" EXACT [ORCID:0000-0001-6908-9849]
xref: NCIT:C3262
xref: UMLS:C1334957
is_a: HP:0011751 ! Abnormality of the posterior pituitary
created_by: peter
creation_date: 2012-04-22T01:31:18Z

[Term]
id: HP:0011753
name: Posterior pituitary dysgenesis
def: "Abnormal development of the neurohypophysis during embryonic growth and development." [DDD:spark]
synonym: "Neurohypophysis dysplasia" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Posterior pituitary dysplasia" EXACT []
xref: UMLS:C4021123
is_a: HP:0011751 ! Abnormality of the posterior pituitary
created_by: peter
creation_date: 2012-04-22T01:42:04Z

[Term]
id: HP:0011754
name: Pituicytoma
def: "A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern." [DDD:spark, pmid:17618441, pmid:19109577]
xref: ICD-O:9432/1 "Pituicytoma"
xref: SNOMEDCT_US:450901008
xref: SNOMEDCT_US:608817003
xref: UMLS:C2986550
is_a: HP:0011752 ! Neoplasm of the posterior pituitary
created_by: peter
creation_date: 2012-04-22T01:34:00Z

[Term]
id: HP:0011755
name: Ectopic posterior pituitary
def: "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [DDD:spark, HPO:probinson]
synonym: "Ectopic neurohypophysis" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:715727009
xref: UMLS:C3279571
xref: UMLS:C4053775
is_a: HP:0011753 ! Posterior pituitary dysgenesis
created_by: peter
creation_date: 2012-04-22T01:43:25Z

[Term]
id: HP:0011756
name: Posterior pituitary agenesis
def: "Absence of the neurohypophysis owing to a developmental defect." [DDD:spark]
synonym: "Neurohypophysis agenesis" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023203
is_a: HP:0011753 ! Posterior pituitary dysgenesis
created_by: peter
creation_date: 2012-04-22T01:55:35Z

[Term]
id: HP:0011757
name: Posterior pituitary hypoplasia
def: "Underdevelopment of the neurohypophysis." [DDD:spark]
synonym: "Neurohypophysis hypoplasia" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4023202
is_a: HP:0011753 ! Posterior pituitary dysgenesis
created_by: peter
creation_date: 2012-04-22T01:56:23Z

[Term]
id: HP:0011758
name: Pituitary acidophilic stem cell adenoma
xref: UMLS:C4023201
is_a: HP:0002893 ! Pituitary adenoma
created_by: peter
creation_date: 2012-04-22T03:03:47Z

[Term]
id: HP:0011759
name: Pituitary gonadotropic cell adenoma
def: "A type of pituitary adenoma that produces gonadotropins." [DDD:spark]
synonym: "Pituitary gonadotropinoma" EXACT []
xref: UMLS:C4021122
is_a: HP:0002893 ! Pituitary adenoma
created_by: peter
creation_date: 2012-04-22T03:37:35Z

[Term]
id: HP:0011760
name: Pituitary growth hormone cell adenoma
def: "A type of pituitary adenoma that produces growth hormone." [DDD:spark]
synonym: "Pituitary somatotropinoma" EXACT []
xref: UMLS:C4018860
is_a: HP:0002893 ! Pituitary adenoma
created_by: peter
creation_date: 2012-04-22T03:38:10Z

[Term]
id: HP:0011761
name: Pituitary null cell adenoma
def: "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess." [DDD:spark]
synonym: "Clinically silent pituitary adenoma" EXACT []
synonym: "Hormonally silent pituitary adenoma" EXACT []
synonym: "Non-functional pituitary adenoma" EXACT []
synonym: "Silent pituitary adenoma" EXACT []
xref: SNOMEDCT_US:254962005
xref: UMLS:C0338078
is_a: HP:0002893 ! Pituitary adenoma
created_by: peter
creation_date: 2012-04-22T03:39:00Z

[Term]
id: HP:0011762
name: Pituitary thyrotropic cell adenoma
def: "A type of pituitary adenoma that produces thyroid stimulating hormone (TSH)." [DDD:spark]
synonym: "Pituitary thyrotropinoma" EXACT []
xref: UMLS:C4021121
is_a: HP:0002893 ! Pituitary adenoma
created_by: peter
creation_date: 2012-04-22T03:42:08Z

[Term]
id: HP:0011763
name: Pituitary carcinoma
def: "A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS." [DDD:spark, NCIT:C4536, PMID:15741248]
xref: MSH:D010911
xref: SNOMEDCT_US:128665000
xref: SNOMEDCT_US:254955001
xref: UMLS:C0346300
is_a: HP:0011750 ! Neoplasm of the anterior pituitary
created_by: peter
creation_date: 2012-04-22T03:52:30Z

[Term]
id: HP:0011764
name: Pituitary spindle cell oncocytoma
def: "A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular." [DDD:spark, pmid:21886889]
xref: UMLS:C4023200
is_a: HP:0011750 ! Neoplasm of the anterior pituitary
created_by: peter
creation_date: 2012-04-22T03:57:01Z

[Term]
id: HP:0011765
name: obsolete Ectopic anterior pituitary
is_obsolete: true
replaced_by: HP:0012731

[Term]
id: HP:0011766
name: Abnormality of the parathyroid morphology
def: "A structural abnormality of the parathyroid gland." [DDD:spark, HPO:probinson]
xref: UMLS:C4023199
is_a: HP:0000828 ! Abnormality of the parathyroid gland
created_by: peter
creation_date: 2012-04-22T04:08:26Z

[Term]
id: HP:0011767
name: Abnormality of the parathyroid physiology
def: "A functional abnormality of the parathyroid gland." [DDD:spark, HPO:probinson]
synonym: "Parathyroid dysfunction" EXACT layperson []
synonym: "Parathyroid issue" BROAD layperson []
xref: UMLS:C4023198
is_a: HP:0000828 ! Abnormality of the parathyroid gland
created_by: peter
creation_date: 2012-04-22T04:09:13Z

[Term]
id: HP:0011768
name: Parathyroid dysgenesis
def: "Abnormal embryonic development of the parathyroid gland." [DDD:spark]
xref: UMLS:C4023197
is_a: HP:0011766 ! Abnormality of the parathyroid morphology
created_by: peter
creation_date: 2012-04-22T04:20:41Z

[Term]
id: HP:0011769
name: Ectopic parathyroid
def: "An abnormal anatomical location of the parathyroid gland." [DDD:spark]
xref: UMLS:C4023196
is_a: HP:0011768 ! Parathyroid dysgenesis
created_by: peter
creation_date: 2012-04-22T04:22:26Z

[Term]
id: HP:0011770
name: Tertiary hyperparathyroidism
def: "A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism." [DDD:spark]
xref: SNOMEDCT_US:78200003
xref: UMLS:C0271858
is_a: HP:0000843 ! Hyperparathyroidism
created_by: peter
creation_date: 2012-04-22T04:38:20Z

[Term]
id: HP:0011771
name: Autoimmune hypoparathyroidism
def: "A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity." [DDD:spark, pmid:19328421]
xref: SNOMEDCT_US:75316000
xref: UMLS:C0271865
is_a: HP:0000829 ! Hypoparathyroidism
created_by: peter
creation_date: 2012-04-22T04:54:37Z

[Term]
id: HP:0011772
name: Abnormality of thyroid morphology
def: "A structural abnormality of the thyroid gland." [DDD:spark]
synonym: "Abnormal shape of thyroid gland" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023195
is_a: HP:0000820 ! Abnormality of the thyroid gland
created_by: peter
creation_date: 2012-04-22T05:54:57Z

[Term]
id: HP:0011773
name: Uninodular goiter
def: "Enlargement of the thyroid gland related to a singular nodule in the thyroid gland." [DDD:spark]
xref: SNOMEDCT_US:237569006
xref: UMLS:C0342205
is_a: HP:0005994 ! Nodular goiter
created_by: peter
creation_date: 2012-04-22T05:56:30Z

[Term]
id: HP:0011774
name: Thyroid follicular adenoma
xref: MSH:D013964
xref: SNOMEDCT_US:255033000
xref: SNOMEDCT_US:255034006
xref: UMLS:C0151468
is_a: HP:0000854 ! Thyroid adenoma
created_by: peter
creation_date: 2012-04-22T06:01:31Z

[Term]
id: HP:0011775
name: Thyroid macrofollicular adenoma
xref: UMLS:C4023194
is_a: HP:0011774 ! Thyroid follicular adenoma
created_by: peter
creation_date: 2012-04-22T06:01:42Z

[Term]
id: HP:0011776
name: Thyroid microfollicular adenoma
xref: UMLS:C4023193
is_a: HP:0011774 ! Thyroid follicular adenoma
created_by: peter
creation_date: 2012-04-22T06:01:48Z

[Term]
id: HP:0011777
name: Thyroid papillary adenoma
xref: UMLS:C4023192
is_a: HP:0000854 ! Thyroid adenoma
created_by: peter
creation_date: 2012-04-22T06:02:12Z

[Term]
id: HP:0011778
name: Thyroid atypical adenoma
xref: UMLS:C4023191
is_a: HP:0000854 ! Thyroid adenoma
created_by: peter
creation_date: 2012-04-22T06:02:26Z

[Term]
id: HP:0011779
name: Anaplastic thyroid carcinoma
xref: MSH:D065646
xref: SNOMEDCT_US:255031003
xref: UMLS:C0238461
is_a: HP:0002890 ! Thyroid carcinoma
created_by: peter
creation_date: 2012-04-22T06:02:52Z

[Term]
id: HP:0011780
name: Thyroid hemiagenesis
def: "Absence of a lobe of the thyroid gland related to a failure of its embryologic development." [DDD:spark]
xref: SNOMEDCT_US:715734006
xref: UMLS:C4023190
is_a: HP:0008188 ! Thyroid dysgenesis
created_by: peter
creation_date: 2012-04-22T06:04:32Z

[Term]
id: HP:0011781
name: Thyroid C cell hyperplasia
def: "An abnormal growth of parafollicular (C-cells) cells." [DDD:spark, HPO:probinson]
comment: Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition.
xref: SNOMEDCT_US:237552009
xref: UMLS:C0342190
is_a: HP:0008249 ! Thyroid hyperplasia
created_by: peter
creation_date: 2012-04-22T06:05:57Z

[Term]
id: HP:0011782
name: Thyroid crisis
xref: MSH:D013958
xref: SNOMEDCT_US:29028009
xref: UMLS:C0040127
is_a: HP:0000836 ! Hyperthyroidism
created_by: peter
creation_date: 2012-04-22T06:10:37Z

[Term]
id: HP:0011783
name: Thyrotoxicosis from ectopic thyroid tissue
xref: SNOMEDCT_US:87232008
xref: UMLS:C0154148
is_a: HP:0000836 ! Hyperthyroidism
created_by: peter
creation_date: 2012-04-22T06:10:51Z

[Term]
id: HP:0011784
name: Thyrotoxicosis with diffuse goiter
synonym: "Thyrotoxicosis with diffuse goitre" EXACT []
xref: SNOMEDCT_US:267374005
xref: UMLS:C0342122
is_a: HP:0000836 ! Hyperthyroidism
created_by: peter
creation_date: 2012-04-22T06:11:09Z

[Term]
id: HP:0011785
name: Thyrotoxicosis with toxic multinodular goitre
xref: SNOMEDCT_US:26389007
xref: UMLS:C0154143
is_a: HP:0000836 ! Hyperthyroidism
created_by: peter
creation_date: 2012-04-22T06:15:52Z

[Term]
id: HP:0011786
name: Thyrotoxicosis with toxic single thyroid nodule
xref: SNOMEDCT_US:69329005
xref: SNOMEDCT_US:73869005
xref: UMLS:C0154141
is_a: HP:0000836 ! Hyperthyroidism
created_by: peter
creation_date: 2012-04-22T06:16:09Z

[Term]
id: HP:0011787
name: Central hypothyroidism
def: "A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects." [DDD:spark, pmid:18415684]
xref: SNOMEDCT_US:26692000
xref: UMLS:C0271801
is_a: HP:0000821 ! Hypothyroidism
created_by: peter
creation_date: 2012-04-22T06:25:45Z

[Term]
id: HP:0011788
name: Increased circulating free T3
def: "An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation." [HPO:probinson]
synonym: "Increased serum free T3" EXACT []
synonym: "Increased serum free triiodothyronine" EXACT []
synonym: "Increased serum fT3" EXACT HP:0045077 []
xref: UMLS:C4021843
is_a: HP:0032209 ! Abnormal circulating free T3 concentration
created_by: peter
creation_date: 2012-04-22T06:31:08Z

[Term]
id: HP:0011789
name: Thyroid-stimulating hormone receptor defect
synonym: "TSHR defect" EXACT []
xref: UMLS:C4023189
is_a: HP:0002926 ! Abnormality of thyroid physiology
created_by: peter
creation_date: 2012-04-22T06:32:33Z

[Term]
id: HP:0011790
name: Activating thyroid-stimulating hormone receptor defect
def: "Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect." [DDD:spark]
synonym: "Activating TSHR defect" EXACT []
xref: UMLS:C4023188
is_a: HP:0011789 ! Thyroid-stimulating hormone receptor defect
created_by: peter
creation_date: 2012-04-22T06:34:35Z

[Term]
id: HP:0011791
name: Inactivating thyroid-stimulating hormone receptor defect
def: "Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect." [DDD:spark]
synonym: "Inactivating TSHR defect" EXACT []
xref: UMLS:C4023187
is_a: HP:0011789 ! Thyroid-stimulating hormone receptor defect
created_by: peter
creation_date: 2012-04-22T06:35:14Z

[Term]
id: HP:0011792
name: Neoplasm by histology
def: "Neoplasm categorized according to type of histological abnormality." [DDD:rscott]
xref: UMLS:C4023186
is_a: HP:0002664 ! Neoplasm
created_by: peter
creation_date: 2012-04-22T06:57:50Z

[Term]
id: HP:0011793
name: Neoplasm by anatomical site
def: "Neoplasm categorized according to the anatomical site of origin of the neoplasm." [DDD:rscott]
xref: UMLS:C4023185
is_a: HP:0002664 ! Neoplasm
created_by: peter
creation_date: 2012-04-22T07:00:13Z

[Term]
id: HP:0011794
name: Embryonal renal neoplasm
def: "The presence of an embryonal neoplasm of the kidney that primarily affects children." [DDD:rscott]
xref: UMLS:C4023184
is_a: HP:0002898 ! Embryonal neoplasm
is_a: HP:0009726 ! Renal neoplasm
created_by: peter
creation_date: 2012-04-22T07:44:34Z

[Term]
id: HP:0011795
name: Intralobar nephroblastomatosis
def: "Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it)." [DDD:rscott]
synonym: "Intralobar nephrogenic rests" EXACT []
xref: SNOMEDCT_US:405934001
xref: UMLS:C1319016
is_a: HP:0008643 ! Nephroblastomatosis
created_by: peter
creation_date: 2012-04-22T07:50:10Z

[Term]
id: HP:0011796
name: Perilobar nephroblastomatosis
def: "Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar)." [DDD:rscott]
synonym: "Perilobar nephrogenic rests" EXACT []
xref: SNOMEDCT_US:405935000
xref: UMLS:C1319017
is_a: HP:0008643 ! Nephroblastomatosis
created_by: peter
creation_date: 2012-04-22T07:50:25Z

[Term]
id: HP:0011797
name: Papillary renal cell carcinoma type 1
def: "A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli." [DDD:rscott, pmid:12429790]
xref: UMLS:C1336839
is_a: HP:0006766 ! Papillary renal cell carcinoma
created_by: peter
creation_date: 2012-04-22T08:03:34Z

[Term]
id: HP:0011798
name: Renal oncocytoma
def: "A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm." [DDD:rscott]
comment: Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150).
xref: MSH:C537750
xref: SNOMEDCT_US:254922006
xref: UMLS:C0346255
is_a: HP:0009726 ! Renal neoplasm
created_by: peter
creation_date: 2012-04-22T08:13:36Z

[Term]
id: HP:0011799
name: Abnormality of facial soft tissue
synonym: "Abnormality of facial soft tissue" EXACT layperson []
synonym: "Anomaly of facial soft tissue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of facial soft tissue" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of facial soft tissue" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023183
is_a: HP:0000271 ! Abnormality of the face
created_by: peter
creation_date: 2012-04-23T07:27:57Z

[Term]
id: HP:0011800
name: Midface retrusion
alt_id: HP:0040199
def: "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith, pmid:19125436]
subset: hposlim_core
synonym: "Decreased projection of midface" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased size of midface" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flat midface" EXACT []
synonym: "Hypoplasia of midface" EXACT []
synonym: "Hypotrophic midface" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Midface deficiency" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Midface hypoplasia" EXACT [HPO:skoehler]
synonym: "Midface retrusion" EXACT layperson []
synonym: "Midface, flat" EXACT []
synonym: "Retrusive midface" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
synonym: "Small midface" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of midface" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1853242
xref: UMLS:C2673410
xref: UMLS:C4280320
xref: UMLS:C4280321
is_a: HP:0000309 ! Abnormality of the midface
created_by: peter
creation_date: 2012-04-24T07:46:05Z

[Term]
id: HP:0011801
name: Enlargement of parotid gland
def: "Increased size of the parotid gland." [DDD:jclayton-smith]
synonym: "Hyperplasia of parotid gland" EXACT []
synonym: "Hypertrophy of parotid gland" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased size of parotid gland" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:29748005
xref: UMLS:C0341047
is_a: HP:0000197 ! Abnormal parotid gland morphology
created_by: peter
creation_date: 2012-04-24T07:59:05Z

[Term]
id: HP:0011802
name: Hamartoma of tongue
def: "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue." [HPO:probinson, pmid:17667541]
synonym: "Lingual hamartoma" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:253753005
xref: UMLS:C0431565
is_a: HP:0100648 ! Neoplasm of the tongue
created_by: peter
creation_date: 2012-04-24T08:02:16Z

[Term]
id: HP:0011803
name: Bifid nose
def: "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [pmid:19152422]
comment: This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip.
subset: hposlim_core
synonym: "Bifid nasal bridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Cleft nose" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Indentation or clefting of the nose" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Indented bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C535441
xref: SNOMEDCT_US:204521002
xref: UMLS:C0221363
xref: UMLS:C4280318
xref: UMLS:C4280319
is_a: HP:0004122 ! Midline defect of the nose
created_by: peter
creation_date: 2012-04-25T08:09:58Z

[Term]
id: HP:0011804
name: Abnormal muscle physiology
def: "A functional abnormality of a skeletal muscle." [HPO:probinson]
synonym: "Abnormality of muscle physiology" EXACT []
synonym: "Issue with muscle function" EXACT layperson []
xref: UMLS:C4023182
is_a: HP:0003011 ! Abnormality of the musculature
created_by: peter
creation_date: 2012-04-25T02:00:15Z

[Term]
id: HP:0011805
name: Abnormal muscle morphology
alt_id: HP:0003735
def: "A structural abnormality of a skeletal muscle." [HPO:probinson]
synonym: "Abnormality of muscle morphology" EXACT []
synonym: "Abnormally shaped muscle" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Issue with muscle structure" EXACT layperson []
xref: UMLS:C4023181
is_a: HP:0003011 ! Abnormality of the musculature
created_by: peter
creation_date: 2012-04-25T02:00:34Z

[Term]
id: HP:0011807
name: Type 1 muscle fiber atrophy
def: "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson]
xref: UMLS:C4023180
is_a: HP:0100295 ! Muscle fiber atrophy
created_by: peter
creation_date: 2012-04-26T12:05:14Z

[Term]
id: HP:0011808
name: Decreased patellar reflex
def: "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [HPO:probinson]
synonym: "Decreased knee jerk reflex" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Decreased patellar reflexes" EXACT [HPO:skoehler]
xref: UMLS:C3277184
is_a: HP:0002600 ! Hyporeflexia of lower limbs
created_by: peter
creation_date: 2012-04-27T08:38:22Z

[Term]
id: HP:0011809
name: Paradoxical myotonia
def: "A type of myotonia that worsens with repeated muscle contractions." [HPO:probinson, pmid:7678441]
comment: In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions.
xref: UMLS:C4023179
is_a: HP:0002486 ! Myotonia
created_by: peter
creation_date: 2012-04-27T01:20:08Z

[Term]
id: HP:0011810
name: Impaired two-point discrimination
def: "A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart." [HPO:probinson]
comment: A normal individual can sense about a 3 mm separation of points on the fingertips.
xref: UMLS:C4023178
is_a: HP:0011730 ! Abnormality of central sensory function
created_by: peter
creation_date: 2012-04-28T02:50:12Z

[Term]
id: HP:0011811
name: Impaired touch localization
def: "A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip." [HPO:probinson]
synonym: "Impaired topognosis" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Impaired touch localisation" EXACT HP:0045076 []
xref: UMLS:C4021120
is_a: HP:0011730 ! Abnormality of central sensory function
created_by: peter
creation_date: 2012-04-28T02:54:44Z

[Term]
id: HP:0011812
name: Agraphesthesia
def: "Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination)." [HPO:probinson]
xref: UMLS:C1328618
is_a: HP:0011730 ! Abnormality of central sensory function
created_by: peter
creation_date: 2012-04-28T02:56:29Z

[Term]
id: HP:0011813
name: Increased cerebral lipofuscin
def: "Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:9531959]
xref: UMLS:C4023177
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
created_by: peter
creation_date: 2012-04-28T03:17:57Z

[Term]
id: HP:0011814
name: Increased urinary hypoxanthine
def: "An increased level of hypoxanthine in the urine." [HPO:probinson]
xref: UMLS:C3810487
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2012-04-28T03:38:52Z

[Term]
id: HP:0011815
name: Cephalocele
def: "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect." [HPO:probinson, PMID:24931720]
comment: A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720).
xref: MSH:D004677
xref: SNOMEDCT_US:253101008
xref: SNOMEDCT_US:48777005
xref: SNOMEDCT_US:55999004
xref: UMLS:C0014065
is_a: HP:0000929 ! Abnormality of the skull
created_by: peter
creation_date: 2012-04-29T09:04:09Z

[Term]
id: HP:0011816
name: Parietal encephalocele
def: "An encephalocele located between bregma and lambda." [DDD:awilkie, pmid:2773494]
xref: SNOMEDCT_US:253109005
xref: UMLS:C0431294
is_a: HP:0002084 ! Encephalocele
created_by: peter
creation_date: 2012-04-29T09:07:38Z

[Term]
id: HP:0011817
name: Basal encephalocele
def: "Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares." [HPO:probinson, pmid:4966739]
comment: The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae.
xref: UMLS:C4023176
is_a: HP:0002084 ! Encephalocele
created_by: peter
creation_date: 2012-04-29T09:14:34Z

[Term]
id: HP:0011818
name: Nasofrontal encephalocele
synonym: "Naso-frontal encephalocele" EXACT []
xref: SNOMEDCT_US:253106003
xref: UMLS:C0431291
is_a: HP:0007330 ! Frontal encephalocele
created_by: peter
creation_date: 2012-04-29T09:20:25Z

[Term]
id: HP:0011819
name: Submucous cleft soft palate
def: "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [HPO:probinson]
comment: Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties.
subset: hposlim_core
synonym: "Partial thickness cleft soft palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Submucous cleft velum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023175
is_a: HP:0000185 ! Cleft soft palate
created_by: peter
creation_date: 2012-04-29T09:49:02Z

[Term]
id: HP:0011820
name: Membranous choanal atresia
def: "Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike." [DDD:jhurst]
xref: UMLS:C4023174
is_a: HP:0000453 ! Choanal atresia
created_by: peter
creation_date: 2012-04-29T01:12:43Z

[Term]
id: HP:0011821
name: Abnormality of facial skeleton
def: "An abnormality of one or more of the set of bones that make up the facial skeleton." [DDD:awilkie]
comment: The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer.
synonym: "Abnormality of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of facial skeleton" EXACT layperson []
synonym: "Anomaly of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of facial skeleton" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the facial bones" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of facial skeleton" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:433096001
xref: UMLS:C2315229
is_a: HP:0000929 ! Abnormality of the skull
created_by: peter
creation_date: 2012-04-29T04:37:30Z

[Term]
id: HP:0011822
name: Broad chin
def: "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [pmid:19125436]
subset: hposlim_core
synonym: "Broad chin" EXACT layperson []
synonym: "Increased width of chin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of menton region" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wide chin" EXACT layperson []
xref: UMLS:C4023172
is_a: HP:0000306 ! Abnormality of the chin
created_by: peter
creation_date: 2012-04-30T08:23:35Z

[Term]
id: HP:0011823
name: Chin with horizontal crease
def: "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." [pmid:19125436]
synonym: "Chin with horizontal crease" EXACT layperson []
synonym: "Chin with horizontal furrow" EXACT []
synonym: "Chin with horizontal groove" EXACT layperson []
synonym: "Chin with horizontal sulcus" EXACT []
synonym: "Horizontal chin skin cleft" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Horizontal menton crease" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023171
is_a: HP:0000306 ! Abnormality of the chin
created_by: peter
creation_date: 2012-04-30T08:33:02Z

[Term]
id: HP:0011824
name: Chin with H-shaped crease
def: "H-shaped crease in the fat pad of the chin." [pmid:19125436]
comment: The H-shape must be distinguished from Vertical crease of the chin.
synonym: "Chin with H-shaped crease" EXACT layperson []
synonym: "Chin, H-Shaped Crease" EXACT layperson []
synonym: "Chin, H-shaped groove" EXACT layperson []
synonym: "H-shaped dimple of the chin" EXACT layperson []
xref: UMLS:C1860309
is_a: HP:0000306 ! Abnormality of the chin
created_by: peter
creation_date: 2012-04-30T08:34:24Z

[Term]
id: HP:0011825
name: Tented philtrum
def: "Prominence of a triangular soft tissue area of the philtrum with the apex to the columella." [pmid:19152422]
comment: A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately.
subset: hposlim_core
synonym: "Philtrum, Tented" EXACT []
xref: UMLS:C4021119
is_a: HP:0000288 ! Abnormality of the philtrum
created_by: peter
creation_date: 2012-05-01T10:32:31Z

[Term]
id: HP:0011826
name: Philtrum with midline raphe
def: "Narrow ridge in the midline of the philtral groove." [pmid:19152422]
comment: The ridge may be very subtly elevated.
subset: hposlim_core
synonym: "Philtrum with central raphe" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Philtrum with midline ridge" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Philtrum, midline raphe" EXACT []
xref: UMLS:C4021118
is_a: HP:0000288 ! Abnormality of the philtrum
created_by: peter
creation_date: 2012-05-01T10:33:46Z

[Term]
id: HP:0011827
name: Malaligned philtral ridges
def: "Absence of the usual parallel position of philtral ridges." [pmid:19152422]
comment: Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term.
subset: hposlim_core
synonym: "Asymmetric philtral columns" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Asymmetric philtral ridges" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Malaligned philtral columns" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Philtral Ridges, Malaligned" EXACT []
xref: UMLS:C4021117
is_a: HP:0000288 ! Abnormality of the philtrum
created_by: peter
creation_date: 2012-05-01T10:35:32Z

[Term]
id: HP:0011828
name: Midline sinus of philtrum
def: "Pit in the midline of the philtral groove." [pmid:19152422]
comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella.
subset: hposlim_core
synonym: "Central sinus of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Philtrum, Midline Sinus" EXACT []
xref: UMLS:C4021116
is_a: HP:0000288 ! Abnormality of the philtrum
created_by: peter
creation_date: 2012-05-01T10:36:55Z

[Term]
id: HP:0011829
name: Narrow philtrum
def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum." [pmid:19152422]
comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella.
subset: hposlim_core
synonym: "Decreased breadth of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased horizontal dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased transverse dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of philtrum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Philtrum, Narrow" EXACT []
synonym: "Thin philtrum" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021115
is_a: HP:0000288 ! Abnormality of the philtrum
created_by: peter
creation_date: 2012-05-01T10:38:12Z

[Term]
id: HP:0011830
name: Abnormal oral mucosa morphology
def: "Abnormality of the oral mucosa." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormality of lining of mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of mucosa of mouth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of oral mucosa" EXACT []
synonym: "Abnormality of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4023170
is_a: HP:0000163 ! Abnormal oral cavity morphology
created_by: peter
creation_date: 2012-05-01T10:43:40Z

[Term]
id: HP:0011831
name: Deviated nasal tip
def: "Nasal tip positioned to one side of the midline." [pmid:19152422]
comment: There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip.
synonym: "Asymmetry of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Asymmetry of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Crooked tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deviated nasal tip" EXACT layperson []
synonym: "Deviated tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Distortion of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal tip, deviated" EXACT []
xref: UMLS:C4021114
xref: UMLS:C4280271
is_a: HP:0000436 ! Abnormality of the nasal tip
created_by: peter
creation_date: 2012-05-01T07:37:48Z

[Term]
id: HP:0011832
name: Narrow nasal tip
def: "Decrease in width of the nasal tip." [pmid:19152422]
comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available.
subset: hposlim_core
synonym: "Narrow nasal tip" EXACT layperson []
synonym: "Narrow tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal tip, narrow" EXACT layperson []
synonym: "Nasal tip, pinched" EXACT layperson []
synonym: "Pinched nasal tip" EXACT layperson []
synonym: "Pinched tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249331008
xref: UMLS:C0426433
is_a: HP:0000436 ! Abnormality of the nasal tip
created_by: peter
creation_date: 2012-05-01T07:39:09Z

[Term]
id: HP:0011833
name: Overhanging nasal tip
def: "Positioning of the nasal tip inferior to the nasal base." [pmid:19152422]
comment: This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately.
subset: hposlim_core
synonym: "Drooping nasal tip" EXACT layperson []
synonym: "Hooked tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Low hanging nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal tip, overhanging" EXACT layperson []
synonym: "Overhanging nasal tip" EXACT layperson []
xref: SNOMEDCT_US:249328007
xref: UMLS:C0426430
is_a: HP:0000436 ! Abnormality of the nasal tip
created_by: peter
creation_date: 2012-05-01T07:42:15Z

[Term]
id: HP:0011834
name: Moyamoya phenomenon
def: "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis." [HPO:probinson]
comment: Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain.
xref: UMLS:C4023169
is_a: HP:0009145 ! Abnormal cerebral artery morphology
created_by: peter
creation_date: 2012-05-05T03:24:26Z

[Term]
id: HP:0011835
name: Absent scaphoid
def: "Congenital absence of the scaphoid.." [DDD:jcampbell]
synonym: "Absent scaphoid bone" RELATED [HPO:skoehler]
synonym: "Missing scaphoid bone" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C1847189
is_a: HP:0004231 ! Carpal bone aplasia
created_by: peter
creation_date: 2012-05-05T07:37:35Z

[Term]
id: HP:0011836
name: Delayed talus ossification
def: "Delayed maturation and calcification of the talus." [HPO:probinson]
xref: UMLS:C4023168
is_a: HP:0008365 ! Abnormality of the talus
is_a: HP:0008369 ! Abnormal tarsal ossification
created_by: peter
creation_date: 2012-05-05T08:39:24Z

[Term]
id: HP:0011837
name: Partial IgA deficiency
def: "Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means." [HPO:probinson]
xref: UMLS:C4023167
is_a: HP:0002720 ! Decreased circulating IgA level
created_by: peter
creation_date: 2012-05-06T09:42:01Z

[Term]
id: HP:0011838
name: Sclerodactyly
def: "Localized thickening and tightness of the skin of the fingers or toes." [HPO:probinson]
xref: ICD-10:L94.3 "Sclerodactyly"
xref: SNOMEDCT_US:201051000
xref: SNOMEDCT_US:298285004
xref: UMLS:C0150988
is_a: HP:0001072 ! Thickened skin
created_by: peter
creation_date: 2012-05-06T10:04:27Z

[Term]
id: HP:0011839
name: Abnormal T cell count
def: "A deviation from the normal count of T cells." [HPO:probinson]
synonym: "Abnormal number of T cells" EXACT [HPO:skoehler]
synonym: "Abnormality of T cell number" EXACT [HPO:skoehler]
xref: UMLS:C4021113
is_a: HP:0002843 ! Abnormal T cell morphology
is_a: HP:0040088 ! Abnormal lymphocyte count
created_by: peter
creation_date: 2012-05-06T10:43:44Z

[Term]
id: HP:0011840
name: Abnormality of T cell physiology
alt_id: HP:0005402
def: "A functional anomaly of T cells." [HPO:probinson]
xref: UMLS:C4023166
is_a: HP:0031409 ! Abnormal lymphocyte physiology
created_by: peter
creation_date: 2012-05-06T10:44:50Z

[Term]
id: HP:0011841
name: Ventricular flutter
def: "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance." [HPO:probinson]
comment: If untreated, ventricular flutter typically progresses to ventricular fibrillation.
xref: MSH:D054141
xref: SNOMEDCT_US:111288001
xref: UMLS:C0152173
is_a: HP:0004756 ! Ventricular tachycardia
created_by: peter
creation_date: 2012-05-06T06:46:54Z

[Term]
id: HP:0011842
name: Abnormality of skeletal morphology
def: "An abnormality of the form, structure, or size of the skeletal system." [HPO:probinson]
synonym: "Abnormally shaped skeletal" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023165
is_a: HP:0000924 ! Abnormality of the skeletal system
created_by: peter
creation_date: 2012-05-07T08:08:37Z

[Term]
id: HP:0011843
name: Abnormality of skeletal physiology
def: "An abnormality of the function of the skeletal system." [HPO:probinson]
xref: UMLS:C4023164
is_a: HP:0000924 ! Abnormality of the skeletal system
created_by: peter
creation_date: 2012-05-07T08:09:43Z

[Term]
id: HP:0011844
name: Abnormal appendicular skeleton morphology
def: "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles." [HPO:probinson]
xref: UMLS:C4023163
is_a: HP:0011842 ! Abnormality of skeletal morphology
created_by: peter
creation_date: 2012-05-07T08:12:26Z

[Term]
id: HP:0011845
name: Short second metatarsal
def: "Short (hypoplastic) second metatarsal bone." [HPO:probinson]
synonym: "Short 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023162
is_a: HP:0010743 ! Short metatarsal
is_a: HP:0040034 ! Abnormality of the second metatarsal bone
created_by: peter
creation_date: 2012-05-08T07:36:00Z

[Term]
id: HP:0011846
name: Osteoblastoma
def: "A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue." [HPO:probinson]
xref: MSH:D018215
xref: SNOMEDCT_US:55333008
xref: UMLS:C0029417
is_a: HP:0010622 ! Neoplasm of the skeletal system
created_by: peter
creation_date: 2012-05-09T08:34:41Z

[Term]
id: HP:0011847
name: Giant cell tumor of bone
def: "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts." [HPO:probinson]
xref: MSH:D018212
xref: SNOMEDCT_US:57500000
xref: SNOMEDCT_US:697970009
xref: UMLS:C0206638
is_a: HP:0010622 ! Neoplasm of the skeletal system
created_by: peter
creation_date: 2012-05-09T08:35:52Z

[Term]
id: HP:0011848
name: Abdominal colic
def: "A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity." []
comment: Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system.
xref: MSH:D003085
xref: SNOMEDCT_US:9991008
xref: UMLS:C0232488
is_a: HP:0002027 ! Abdominal pain
created_by: hecht
creation_date: 2012-05-12T07:17:45Z

[Term]
id: HP:0011849
name: Abnormal bone ossification
def: "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." [HPO:probinson, PMID:18157903]
comment: All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification.
synonym: "Abnormal bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: MP:0008271 "Abnormal bone ossification"
xref: UMLS:C4023161
xref: UMLS:C4280317
is_a: HP:0003330 ! Abnormal bone structure
created_by: peter
creation_date: 2012-05-15T07:39:58Z

[Term]
id: HP:0011850
name: Parotitis
def: "Inflammation of the parotid gland." [HPO:probinson]
xref: MSH:D010309
xref: SNOMEDCT_US:14756005
xref: UMLS:C0030583
is_a: HP:0000197 ! Abnormal parotid gland morphology
created_by: hecht
creation_date: 2012-05-21T10:33:44Z

[Term]
id: HP:0011851
name: Hemopericardium
def: "Accumulation of blood within the pericardial sac." [HPO:probinson, pmid:10882282]
xref: MSH:D010490
xref: SNOMEDCT_US:23412002
xref: UMLS:C0019064
is_a: HP:0001698 ! Pericardial effusion
created_by: hecht
creation_date: 2012-05-21T10:43:03Z

[Term]
id: HP:0011852
name: Chylopericardium
def: "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct." [HPO:probinson]
xref: MSH:D010490
xref: SNOMEDCT_US:233890005
xref: UMLS:C0242426
is_a: HP:0001698 ! Pericardial effusion
created_by: hecht
creation_date: 2012-05-21T10:44:29Z

[Term]
id: HP:0011853
name: Serous pericardial effusion
def: "Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac." [HPO:probinson]
xref: UMLS:C4023160
is_a: HP:0001698 ! Pericardial effusion
created_by: hecht
creation_date: 2012-05-21T10:49:08Z

[Term]
id: HP:0011854
name: Hemoperitoneum
def: "Accumulation of blood in the peritoneal cavity owing to internal hemorrhage." [HPO:probinson]
synonym: "Hematoperitoneum" RELATED [ORCID:0000-0001-6908-9849]
xref: MSH:D006465
xref: SNOMEDCT_US:443826006
xref: SNOMEDCT_US:45626005
xref: UMLS:C0019065
xref: UMLS:C0744735
is_a: HP:0002585 ! Abnormality of the peritoneum
created_by: hecht
creation_date: 2012-05-21T10:55:34Z

[Term]
id: HP:0011855
name: Pharyngeal edema
def: "Abnormal accumulation of fluid leading to swelling of the pharynx." [HPO:probinson]
synonym: "Throat swelling" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:2129002
xref: UMLS:C0236024
is_a: HP:0000600 ! Abnormality of the pharynx
is_a: HP:0000969 ! Edema
created_by: hecht
creation_date: 2012-05-21T11:02:52Z

[Term]
id: HP:0011856
name: Pica
def: "An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month." [HPO:probinson]
xref: MSH:D010842
xref: SNOMEDCT_US:14077003
xref: UMLS:C0031873
is_a: HP:0100738 ! Abnormal eating behavior
created_by: hecht
creation_date: 2012-05-21T11:08:54Z

[Term]
id: HP:0011857
name: Plasmacytoma
def: "A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location." [HPO:probinson]
comment: Plasmacytoma often generalizes to multiple myeloma over the course of several years.
xref: MSH:D010954
xref: SNOMEDCT_US:10639003
xref: SNOMEDCT_US:415112005
xref: UMLS:C0032131
is_a: HP:0004377 ! Hematological neoplasm
created_by: hecht
creation_date: 2012-05-21T11:34:44Z

[Term]
id: HP:0011858
name: Reduced factor IX activity
def: "Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [HPO:probinson]
comment: Severe deficiency of factor IX underlies hemophilia B.
synonym: "Low factor IX activity" EXACT []
xref: UMLS:C4023159
is_a: HP:0010989 ! Abnormality of the intrinsic pathway
created_by: peter
creation_date: 2012-05-26T11:35:57Z

[Term]
id: HP:0011859
name: Punctate keratitis
def: "A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium." [HPO:probinson]
xref: SNOMEDCT_US:416300008
xref: UMLS:C1562761
is_a: HP:0000491 ! Keratitis
created_by: hecht
creation_date: 2012-05-21T12:18:03Z

[Term]
id: HP:0011860
name: Metaphyseal dappling
def: "The presence of spots or rounded patches of abnormally increased density of metaphyseal bone." [HPO:probinson]
comment: This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia.
synonym: "Dappled metaphyseal sclerosis" EXACT []
xref: UMLS:C4020907
is_a: HP:0004979 ! Metaphyseal sclerosis
created_by: peter
creation_date: 2012-05-26T04:09:07Z

[Term]
id: HP:0011861
name: Bilateral trilobed lungs
def: "Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes." [HPO:probinson]
xref: SNOMEDCT_US:448648001
xref: UMLS:C3164377
is_a: HP:0002101 ! Abnormal lung lobation
created_by: peter
creation_date: 2012-05-27T01:09:21Z

[Term]
id: HP:0011862
name: Abnormal bone collagen fibril morphology
def: "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity." [HPO:probinson, MP:0011642]
xref: UMLS:C4023158
is_a: HP:0003330 ! Abnormal bone structure
created_by: peter
creation_date: 2012-05-27T01:32:04Z

[Term]
id: HP:0011863
name: Abnormal sternal ossification
alt_id: HP:0006624
def: "Any anomaly in the formation of the bony substance of the sternum." [HPO:probinson]
comment: The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process.
synonym: "Abnormal maturation of breastbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sternal ossification center abnormalities" EXACT []
xref: UMLS:C1860243
is_a: HP:0000766 ! Abnormality of the sternum
is_a: HP:0003336 ! Abnormal enchondral ossification
created_by: peter
creation_date: 2012-05-27T04:08:55Z

[Term]
id: HP:0011864
name: Elevated plasma pyrophosphate
def: "An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson]
xref: UMLS:C4023157
is_a: HP:0100529 ! Abnormal blood phosphate concentration
created_by: peter
creation_date: 2012-05-28T06:05:24Z

[Term]
id: HP:0011867
name: Abnormality of the wing of the ilium
def: "An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally." [HPO:probinson]
xref: UMLS:C4023156
is_a: HP:0002867 ! Abnormality of the ilium
created_by: peter
creation_date: 2012-05-28T07:23:30Z

[Term]
id: HP:0011868
name: Sciatica
def: "Pain in the lower back and hip radiating in the distribution of the sciatic nerve." [HPO:probinson, pmid:17872935]
xref: MSH:D012585
xref: SNOMEDCT_US:23056005
xref: UMLS:C0036396
is_a: HP:0003418 ! Back pain
created_by: peter
creation_date: 2012-05-28T10:34:09Z

[Term]
id: HP:0011869
name: Abnormal platelet function
def: "Any anomaly in the function of thrombocytes." [HPO:probinson]
xref: UMLS:C0855740
is_a: HP:0001872 ! Abnormal thrombocyte morphology
created_by: peter
creation_date: 2012-05-30T05:32:11Z

[Term]
id: HP:0011870
name: Impaired arachidonic acid-induced platelet aggregation
def: "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." [DDD:wouwehand]
xref: UMLS:C4023155
is_a: HP:0003540 ! Impaired platelet aggregation
created_by: peter
creation_date: 2012-05-30T05:37:07Z

[Term]
id: HP:0011871
name: Impaired ristocetin-induced platelet aggregation
def: "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin." [DDD:wouwehand]
xref: UMLS:C4023154
is_a: HP:0003540 ! Impaired platelet aggregation
is_a: HP:0012146 ! Abnormality of von Willebrand factor
created_by: peter
creation_date: 2012-05-30T05:39:52Z

[Term]
id: HP:0011872
name: Impaired thrombin-induced platelet aggregation
def: "Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics)." [DDD:wouwehand]
xref: UMLS:C4023153
is_a: HP:0003540 ! Impaired platelet aggregation
created_by: peter
creation_date: 2012-05-30T05:41:52Z

[Term]
id: HP:0011873
name: Abnormal platelet count
def: "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood." [DDD:kfreson]
xref: SNOMEDCT_US:165558001
xref: UMLS:C0580317
is_a: HP:0001872 ! Abnormal thrombocyte morphology
created_by: peter
creation_date: 2012-05-30T08:11:13Z

[Term]
id: HP:0011874
name: Heparin-induced thrombocytopenia
def: "Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin." [HPO:probinson, pmid:16928996]
comment: A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4.
xref: SNOMEDCT_US:73397007
xref: UMLS:C0272285
is_a: HP:0001873 ! Thrombocytopenia
created_by: peter
creation_date: 2012-05-30T08:31:16Z

[Term]
id: HP:0011875
name: Abnormal platelet morphology
def: "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson]
synonym: "Abnormal shape of platelets" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0855742
is_a: HP:0001872 ! Abnormal thrombocyte morphology
created_by: peter
creation_date: 2012-05-31T03:43:59Z

[Term]
id: HP:0011876
name: Abnormal platelet volume
def: "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers." [HPO:probinson]
xref: UMLS:C4023152
is_a: HP:0001872 ! Abnormal thrombocyte morphology
created_by: peter
creation_date: 2012-05-31T03:46:13Z

[Term]
id: HP:0011877
name: Increased mean platelet volume
def: "Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand]
comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL).
synonym: "Large platelets" EXACT layperson []
xref: UMLS:C1096367
is_a: HP:0011876 ! Abnormal platelet volume
created_by: peter
creation_date: 2012-05-31T03:58:17Z

[Term]
id: HP:0011878
name: Abnormal platelet membrane protein expression
def: "Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry." [DDD:wouwehand]
xref: UMLS:C4023151
is_a: HP:0011869 ! Abnormal platelet function
created_by: peter
creation_date: 2012-05-31T04:00:21Z

[Term]
id: HP:0011879
name: Decreased platelet glycoprotein Ib-IX-V
def: "Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V." [DDD:wouwehand, pmid:10605725]
comment: The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma.
xref: UMLS:C4023150
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
created_by: peter
creation_date: 2012-05-31T04:01:34Z

[Term]
id: HP:0011880
name: Acute disseminated intravascular coagulation
def: "An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed." [HPO:probinson]
xref: UMLS:C4023149
is_a: HP:0005521 ! Disseminated intravascular coagulation
created_by: peter
creation_date: 2012-06-02T04:49:50Z

[Term]
id: HP:0011881
name: Decreased platelet glycoprotein VI
def: "Decreased cell membrane concentration of glycoprotein VI." [DDD:wouwehand]
comment: The glycoprotein VI is a glycoprotein receptor for collagen.
xref: UMLS:C4023148
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
created_by: peter
creation_date: 2012-06-02T09:17:33Z

[Term]
id: HP:0011882
name: Decreased platelet P2Y12 receptor
def: "Decreased cell membrane concentration of P2Y12 receptor." [DDD:wouwehand, pmid:14755328]
comment: The P2Y12 receptor is activated by ADP and plays a central role in platelet activation.
xref: UMLS:C4023147
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
created_by: peter
creation_date: 2012-06-02T09:18:58Z

[Term]
id: HP:0011883
name: Abnormal platelet granules
def: "An anomaly of alpha or dense granules or platelet lysosomes." [DDD:wouwehand, pmid:18041654]
comment: Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space.
xref: UMLS:C4023146
is_a: HP:0011875 ! Abnormal platelet morphology
created_by: peter
creation_date: 2012-06-02T09:47:57Z

[Term]
id: HP:0011884
name: Abnormal umbilical stump bleeding
def: "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth." [DDD:akelly]
xref: UMLS:C4023145
is_a: HP:0001892 ! Abnormal bleeding
created_by: peter
creation_date: 2012-06-02T10:25:45Z

[Term]
id: HP:0011885
name: Hemorrhage of the eye
def: "Bleeding from vessels of the various tissues of the eye." [DDD:akelly]
synonym: "Bleeding from the eye" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Haemorrhage of the eye" RELATED []
xref: MSH:D005130
xref: SNOMEDCT_US:417244000
xref: SNOMEDCT_US:93478000
xref: UMLS:C0015402
is_a: HP:0011029 ! Internal hemorrhage
is_a: HP:0012373 ! Abnormal eye physiology
created_by: peter
creation_date: 2012-06-02T10:44:39Z

[Term]
id: HP:0011886
name: Hyphema
def: "Bleeding in the anterior chamber of the eye." [HPO:probinson]
xref: MSH:D006988
xref: SNOMEDCT_US:75229002
xref: UMLS:C0020581
is_a: HP:0011885 ! Hemorrhage of the eye
created_by: peter
creation_date: 2012-06-02T10:49:36Z

[Term]
id: HP:0011887
name: Choroid hemorrhage
def: "Hemorrhage from the vessels of the choroid." [HPO:probinson]
synonym: "Choroidal hemorrhage" EXACT []
xref: MSH:D002832
xref: SNOMEDCT_US:122003
xref: UMLS:C0008522
is_a: HP:0011885 ! Hemorrhage of the eye
created_by: peter
creation_date: 2012-06-02T10:50:39Z

[Term]
id: HP:0011888
name: Bleeding requiring red cell transfusion
def: "Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4)." [DDD:akelly]
synonym: "Bleeding requiring red cell transfusion" EXACT layperson []
xref: UMLS:C4023144
is_a: HP:0001892 ! Abnormal bleeding
created_by: peter
creation_date: 2012-06-02T11:31:44Z

[Term]
id: HP:0011889
name: Bleeding with minor or no trauma
def: "Significant bleeding or hemorrhage without significant precipitating factor." [DDD:kfreson]
synonym: "Bleeding with minor or no trauma" EXACT layperson []
synonym: "Easy bleeding" EXACT layperson []
xref: UMLS:C4023143
is_a: HP:0001892 ! Abnormal bleeding
created_by: peter
creation_date: 2012-06-02T11:32:13Z

[Term]
id: HP:0011890
name: Prolonged bleeding following procedure
def: "Prolonged or protracted bleeding following an invasive procedure or intervention." [DDD:akelly]
synonym: "Prolonged bleeding following procedure" EXACT layperson []
xref: UMLS:C4023142
is_a: HP:0001892 ! Abnormal bleeding
created_by: peter
creation_date: 2012-06-02T11:33:38Z

[Term]
id: HP:0011891
name: Post-partum hemorrhage
def: "Significant maternal haemorrhage/blood loss following deilvery of a child." [DDD:akelly]
synonym: "Bleeding poost-delivery" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Post-partum haemorrhage" EXACT []
xref: MSH:D006473
xref: SNOMEDCT_US:47821001
xref: UMLS:C0032797
is_a: HP:0011890 ! Prolonged bleeding following procedure
created_by: peter
creation_date: 2012-06-02T11:35:46Z

[Term]
id: HP:0011892
name: Vitamin K deficiency
xref: MSH:D014813
xref: SNOMEDCT_US:52675005
xref: UMLS:C0042880
is_a: HP:0100831 ! Abnormality of vitamin K metabolism
created_by: peter
creation_date: 2012-06-02T05:21:14Z

[Term]
id: HP:0011893
name: Abnormal leukocyte count
def: "Number of leukocytes per volume of blood beyond normal limits." [HPO:probinson]
synonym: "Abnormal white blood cell count" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:165509000
xref: UMLS:C0580531
is_a: HP:0001881 ! Abnormal leukocyte morphology
created_by: peter
creation_date: 2012-06-02T05:32:39Z

[Term]
id: HP:0011894
name: Impaired thromboxane A2 agonist-induced platelet aggregation
def: "Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists." [DDD:wouwehand]
xref: UMLS:C4023141
is_a: HP:0003540 ! Impaired platelet aggregation
created_by: peter
creation_date: 2012-06-03T08:51:33Z

[Term]
id: HP:0011895
name: Anemia due to reduced life span of red cells
def: "A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days." [DDD:akelly]
synonym: "Anaemia due to reduced life span of red cells" EXACT []
xref: UMLS:C4021112
is_a: HP:0001903 ! Anemia
created_by: peter
creation_date: 2012-06-03T09:26:17Z

[Term]
id: HP:0011896
name: Subconjunctival hemorrhage
def: "Bleeding beneath the mucous membrane that lines the inner surface of the eyelid." [DDD:akelly]
synonym: "Subconjunctival haemorrhage" RELATED []
xref: SNOMEDCT_US:78768009
xref: UMLS:C0038534
is_a: HP:0011885 ! Hemorrhage of the eye
created_by: peter
creation_date: 2012-06-03T03:11:41Z

[Term]
id: HP:0011897
name: Neutrophilia
def: "Increased number of neutrophils circulating in blood." [DDD:akelly]
synonym: "Increased blood neutrophil counts" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023140
is_a: HP:0011991 ! Abnormal neutrophil count
created_by: peter
creation_date: 2012-06-03T03:16:43Z

[Term]
id: HP:0011898
name: Abnormality of circulating fibrinogen
def: "An abnormality of the level of activity of circulating fibrinogen." [DDD:akelly]
comment: Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin.
xref: UMLS:C4023139
is_a: HP:0010990 ! Abnormality of the common coagulation pathway
created_by: peter
creation_date: 2012-06-03T03:35:43Z

[Term]
id: HP:0011899
name: Hyperfibrinogenemia
def: "Increased concentration of fibrinogen in the blood." [DDD:akelly]
xref: SNOMEDCT_US:439000005
xref: UMLS:C0919890
is_a: HP:0011898 ! Abnormality of circulating fibrinogen
created_by: peter
creation_date: 2012-06-03T03:38:36Z

[Term]
id: HP:0011900
name: Hypofibrinogenemia
def: "Decreased concentration of fibrinogen in the blood." [HPO:probinson]
synonym: "Low fibrinogen activity" EXACT []
synonym: "Low fibrinogen level" EXACT []
xref: SNOMEDCT_US:234457009
xref: UMLS:C0553681
is_a: HP:0011898 ! Abnormality of circulating fibrinogen
created_by: peter
creation_date: 2012-06-03T03:39:47Z

[Term]
id: HP:0011901
name: Dysfibrinogenemia
def: "Qualitatively abnormal fibrinogen." [DDD:akelly]
synonym: "Dysfibrinogenaemia" EXACT []
xref: SNOMEDCT_US:111589005
xref: UMLS:C1260903
is_a: HP:0011898 ! Abnormality of circulating fibrinogen
created_by: peter
creation_date: 2012-06-03T03:40:21Z

[Term]
id: HP:0011902
name: Abnormal hemoglobin
def: "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson]
synonym: "Abnormal Hb" EXACT HP:0045077 []
xref: UMLS:C0349705
is_a: HP:0001877 ! Abnormal erythrocyte morphology
created_by: peter
creation_date: 2012-06-03T03:53:23Z

[Term]
id: HP:0011903
name: HbH hemoglobin
def: "Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia." [HPO:probinson, pmid:21345100]
synonym: "Hemoglobin H" EXACT []
xref: SNOMEDCT_US:48553001
xref: UMLS:C3161174
is_a: HP:0011902 ! Abnormal hemoglobin
created_by: peter
creation_date: 2012-06-03T04:59:15Z

[Term]
id: HP:0011904
name: Persistence of hemoglobin F
def: "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [HPO:probinson]
synonym: "Increased hemoglobin F" EXACT []
synonym: "Persistence of HbF" EXACT HP:0045077 []
xref: UMLS:C0239941
is_a: HP:0011902 ! Abnormal hemoglobin
created_by: peter
creation_date: 2012-06-03T05:03:00Z

[Term]
id: HP:0011905
name: Reduced hemoglobin A
def: "Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia." [HPO:probinson]
synonym: "Reduced HbA" EXACT HP:0045077 []
xref: UMLS:C4023138
is_a: HP:0011902 ! Abnormal hemoglobin
created_by: peter
creation_date: 2012-06-03T05:07:19Z

[Term]
id: HP:0011906
name: Reduced beta/alpha synthesis ratio
def: "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [HPO:probinson, pmid:1060068]
xref: UMLS:C4023137
is_a: HP:0005560 ! Imbalanced hemoglobin synthesis
created_by: peter
creation_date: 2012-06-03T05:41:20Z

[Term]
id: HP:0011907
name: Reduced alpha/beta synthesis ratio
def: "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia." [HPO:probinson]
xref: UMLS:C4023136
is_a: HP:0005560 ! Imbalanced hemoglobin synthesis
created_by: peter
creation_date: 2012-06-03T05:43:45Z

[Term]
id: HP:0011908
name: Unilateral radial aplasia
def: "Missing radius bone on one side only associated with congenital failure of development." [HPO:probinson]
xref: UMLS:C4023135
is_a: HP:0003974 ! Absent radius
created_by: peter
creation_date: 2012-06-03T06:46:52Z

[Term]
id: HP:0011909
name: Flattened metacarpal heads
def: "Abnormally flat shape of the heads of the metacarpal bones." [HPO:probinson]
comment: The metacarpal heads articulate with the proximal phalanges of the fingers.
synonym: "Flattened head of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023134
is_a: HP:0005916 ! Abnormal metacarpal morphology
created_by: peter
creation_date: 2012-06-03T10:23:40Z

[Term]
id: HP:0011910
name: Shortening of all phalanges of fingers
def: "Abnormal reduction in length affecting all phalanges." [HPO:probinson]
synonym: "Shortening of all finger bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023133
is_a: HP:0009803 ! Short phalanx of finger
created_by: peter
creation_date: 2012-06-03T10:50:44Z

[Term]
id: HP:0011911
name: Abnormality of metacarpophalangeal joint
def: "An anomaly of a metacarpophalangeal joint." [HPO:probinson]
synonym: "Abnormality of the knuckle" EXACT layperson []
xref: UMLS:C4023132
is_a: HP:0001163 ! Abnormality of the metacarpal bones
created_by: peter
creation_date: 2012-06-03T11:03:36Z

[Term]
id: HP:0011912
name: Abnormality of the glenoid fossa
def: "An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson]
xref: UMLS:C4023131
is_a: HP:0000782 ! Abnormality of the scapula
is_a: HP:0003043 ! Abnormality of the shoulder
created_by: peter
creation_date: 2012-06-05T08:51:23Z

[Term]
id: HP:0011913
name: Lumbar hypertrichosis
def: "Excessive, increased hair growth located in the lumbar region." [HPO:probinson]
xref: UMLS:C4023130
is_a: HP:0000998 ! Hypertrichosis
created_by: peter
creation_date: 2012-06-05T10:13:10Z

[Term]
id: HP:0011914
name: Thoracic hypertrichosis
def: "Excessive, increased hair growth located in the thoracic region." [HPO:probinson]
xref: UMLS:C4023129
is_a: HP:0000998 ! Hypertrichosis
created_by: peter
creation_date: 2012-06-05T10:13:14Z

[Term]
id: HP:0011915
name: Cardiovascular calcification
def: "Abnormal calcification in the cardiovascular system." [HPO:probinson]
xref: UMLS:C4023128
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0030680 ! Abnormality of cardiovascular system morphology
created_by: peter
creation_date: 2012-06-05T10:35:58Z

[Term]
id: HP:0011916
name: Toe extensor amyotrophy
def: "Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes." [HPO:probinson]
xref: UMLS:C4023127
is_a: HP:0001436 ! Abnormality of the foot musculature
created_by: peter
creation_date: 2012-06-08T06:59:44Z

[Term]
id: HP:0011917
name: Short 5th toe
def: "Underdevelopment (hypoplasia) of the fifth toe." [HPO:probinson]
synonym: "Short fifth toe" EXACT []
synonym: "Short little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021111
is_a: HP:0001831 ! Short toe
created_by: peter
creation_date: 2012-06-08T08:25:00Z

[Term]
id: HP:0011918
name: Clinodactyly of the 4th toe
def: "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson]
synonym: "4th toe clinodactyly" RELATED []
synonym: "Curvature of 4th toe" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020740
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010338 ! Deviation of the 4th toe
created_by: peter
creation_date: 2012-06-08T08:44:27Z

[Term]
id: HP:0011919
name: Pleural empyema
def: "Accumulation of pus in the pleural cavity." [HPO:probinson]
synonym: "Pyothorax" EXACT []
xref: MSH:D016724
xref: SNOMEDCT_US:405950009
xref: SNOMEDCT_US:405951008
xref: SNOMEDCT_US:58554001
xref: UMLS:C0014013
is_a: HP:0002202 ! Pleural effusion
created_by: peter
creation_date: 2012-06-08T07:13:41Z

[Term]
id: HP:0011920
name: Transudative pleural effusion
def: "A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [DDD:tkuijpers, HPO:probinson, pmid:16623208]
comment: Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax.
xref: MSH:D006876
xref: SNOMEDCT_US:79231000
xref: UMLS:C0020312
is_a: HP:0002202 ! Pleural effusion
created_by: peter
creation_date: 2012-06-08T07:31:00Z

[Term]
id: HP:0011921
name: Exudative pleural effusion
def: "A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [DDD:tkuijpers, HPO:probinson, pmid:16623208]
comment: Transudates result from pneumonia, malignancy, thromboembolism, and other causes.
xref: SNOMEDCT_US:13841000119107
xref: UMLS:C3887491
is_a: HP:0002202 ! Pleural effusion
created_by: peter
creation_date: 2012-06-08T07:35:47Z

[Term]
id: HP:0011922
name: Abnormal activity of mitochondrial respiratory chain
def: "An increased or decreased activity of the mitochondrial respiratory chain." [HPO:probinson]
xref: UMLS:C4023126
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
created_by: peter
creation_date: 2012-06-08T08:57:44Z

[Term]
id: HP:0011923
name: Decreased activity of mitochondrial complex I
def: "A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria." [HPO:probinson]
synonym: "Respiratory complex I deficiency" RELATED []
xref: UMLS:C2677650
xref: UMLS:C4020739
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain
created_by: peter
creation_date: 2012-06-08T09:02:29Z

[Term]
id: HP:0011924
name: Decreased activity of mitochondrial complex III
def: "A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria." [HPO:probinson]
synonym: "Respiratory complex III deficiency" RELATED []
xref: UMLS:C3149083
xref: UMLS:C4020738
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain
created_by: peter
creation_date: 2012-06-08T09:04:26Z

[Term]
id: HP:0011925
name: Decreased activity of mitochondrial ATP synthase complex
def: "A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain." [HPO:probinson]
synonym: "Respiratory complex deficiency, ATPase deficiency" RELATED []
xref: UMLS:C4020737
xref: UMLS:C4023125
is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain
created_by: peter
creation_date: 2012-06-08T09:08:42Z

[Term]
id: HP:0011926
name: Proximal placement of hallux
def: "Proximal mislocalization of the big toe from its normal position." [HPO:probinson]
comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly.
synonym: "Proximal placement of big toe" EXACT []
synonym: "Proximally placed halluces" EXACT HP:0045078 []
xref: UMLS:C4021110
is_a: HP:0010051 ! Deviation of the hallux
created_by: peter
creation_date: 2012-06-09T03:29:59Z

[Term]
id: HP:0011927
name: Short digit
def: "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [HPO:probinson]
comment: Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156.
synonym: "Short digit" EXACT layperson []
synonym: "Very short digits" RELATED layperson [HPO:skoehler]
xref: UMLS:C1860176
xref: UMLS:C4023124
is_a: HP:0011297 ! Abnormal digit morphology
created_by: peter
creation_date: 2012-06-10T09:18:42Z

[Term]
id: HP:0011928
name: Short proximal phalanx of toe
def: "Developmental hypoplasia (shortening) of proximal phalanx of toe." [HPO:probinson]
synonym: "Short innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023123
is_a: HP:0001831 ! Short toe
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
created_by: peter
creation_date: 2012-06-10T10:06:30Z

[Term]
id: HP:0011929
name: Hypersegmentation of proximal phalanx of third finger
def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger." [HPO:probinson]
comment: This anomaly is characteristic for brachydactyly type C.
xref: UMLS:C4023122
is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger
created_by: peter
creation_date: 2012-06-10T10:49:28Z

[Term]
id: HP:0011930
name: Hyperextensible skin of chest
synonym: "Hyperelastic chest skin" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stretchable chest skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021836
is_a: HP:0007458 ! Focal hyperextensible skin
created_by: peter
creation_date: 2012-06-10T11:37:14Z

[Term]
id: HP:0011931
name: Abnormality of the cerebellar peduncle
def: "An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum." [HPO:probinson]
xref: UMLS:C4023121
is_a: HP:0002438 ! Cerebellar malformation
is_a: HP:0012501 ! Abnormality of the brainstem white matter
created_by: peter
creation_date: 2012-06-10T01:02:57Z

[Term]
id: HP:0011932
name: Abnormality of the superior cerebellar peduncle
def: "An anomaly of the superior cerebellar peduncle." [HPO:probinson]
xref: UMLS:C4023120
is_a: HP:0007361 ! Abnormality of the pons
is_a: HP:0011931 ! Abnormality of the cerebellar peduncle
created_by: peter
creation_date: 2012-06-10T01:26:47Z

[Term]
id: HP:0011933
name: Elongated superior cerebellar peduncle
def: "Increased length of the superior cerebellar peduncle." [HPO:probinson]
synonym: "Elongated superior cerebellar peduncles" RELATED [HPO:skoehler]
synonym: "Long cerebellar peduncle" EXACT [HPO:skoehler]
synonym: "Long cerebellar peduncles" EXACT []
xref: UMLS:C3810214
xref: UMLS:C4021109
is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle
created_by: peter
creation_date: 2012-06-10T01:31:13Z

[Term]
id: HP:0011934
name: Dilatation of mesenteric artery
def: "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery ." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Mesenteric artery aneurysm" NARROW []
xref: UMLS:C4023119
is_a: HP:0002636 ! Dilatation of an abdominal artery
created_by: peter
creation_date: 2012-06-10T01:48:30Z

[Term]
id: HP:0011935
name: Decreased urinary urate
def: "Decreased concentration of urate in the urine." [HPO:probinson]
comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism.
xref: UMLS:C4023118
is_a: HP:0012610 ! Abnormality of urinary uric acid concentration
created_by: peter
creation_date: 2012-06-10T02:19:49Z

[Term]
id: HP:0011936
name: Decreased plasma total carnitine
def: "A decreased concentration of total carnitine in the blood." [HPO:probinson]
synonym: "Decreased plasma total carnitine" EXACT layperson []
xref: UMLS:C4023117
is_a: HP:0003234 ! Decreased plasma carnitine
created_by: peter
creation_date: 2012-06-10T04:20:17Z

[Term]
id: HP:0011937
name: Hypoplastic fifth toenail
def: "Underdeveloped nails of the fifth toes." [HPO:probinson]
synonym: "Small fifth toenail" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped fifth toenail" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023116
is_a: HP:0001800 ! Hypoplastic toenails
created_by: peter
creation_date: 2012-06-10T04:27:42Z

[Term]
id: HP:0011939
name: 3-4 finger cutaneous syndactyly
def: "A soft tissue continuity in the A/P axis between fingers 3 and 4." [HPO:probinson]
synonym: "Webbed 3rd-4th finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023115
is_a: HP:0010554 ! Cutaneous finger syndactyly
created_by: peter
creation_date: 2012-06-10T05:13:51Z

[Term]
id: HP:0011940
name: Anterior wedging of T12
def: "An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson]
synonym: "Anterior wedging of the 12th thoracic vertebra" EXACT []
synonym: "Wedge-shaped 12th thoracic vertebra" EXACT []
xref: UMLS:C4021108
is_a: HP:0008422 ! Vertebral wedging
created_by: peter
creation_date: 2012-06-10T06:07:54Z

[Term]
id: HP:0011941
name: Anterior wedging of L2
def: "An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson]
xref: UMLS:C4023114
is_a: HP:0008422 ! Vertebral wedging
created_by: peter
creation_date: 2012-06-10T06:10:08Z

[Term]
id: HP:0011942
name: Increased urinary sulfite
def: "Increased concentration of SO3(2-), i.e., sulfite, in the urine." [HPO:probinson]
xref: UMLS:C1848957
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2012-06-11T07:36:01Z

[Term]
id: HP:0011943
name: Increased urinary thiosulfate
def: "Increased concentration of thiosulfate(2-) in the urine." [HPO:probinson]
xref: UMLS:C3148695
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2012-06-11T07:37:29Z

[Term]
id: HP:0011944
name: Small vessel vasculitis
def: "A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries." [HPO:probinson, pmid:9366584]
xref: UMLS:C4023113
is_a: HP:0002633 ! Vasculitis
created_by: peter
creation_date: 2012-06-11T07:58:21Z

[Term]
id: HP:0011945
name: Bronchiolitis obliterans organizing pneumonia
def: "Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss." [DDD:tkuijpers, HPO:probinson, pmid:20858818]
synonym: "BOOP" EXACT HP:0045077 []
synonym: "Cryptogenic organizing pneumonia" EXACT []
xref: MSH:D018549
xref: SNOMEDCT_US:129458007
xref: UMLS:C0242770
is_a: HP:0006530 ! Interstitial pulmonary abnormality
created_by: peter
creation_date: 2012-06-18T07:55:41Z

[Term]
id: HP:0011946
name: Bronchiolitis obliterans
def: "Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways." [HPO:probinson]
comment: Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia.
synonym: "Constrictive bronchiolitis" EXACT []
synonym: "Obliterative bronchiolitis" EXACT []
xref: MSH:D001989
xref: SNOMEDCT_US:40100001
xref: UMLS:C0006272
xref: UMLS:C2350875
is_a: HP:0006530 ! Interstitial pulmonary abnormality
created_by: peter
creation_date: 2012-06-21T08:20:58Z

[Term]
id: HP:0011947
name: Respiratory tract infection
def: "An infection of the upper or lower respiratory tract." [HPO:probinson]
synonym: "Respiratory infection" EXACT layperson []
synonym: "Respiratory infections" RELATED layperson [HPO:skoehler]
synonym: "Respiratory tract infection" EXACT layperson []
xref: MSH:D012141
xref: SNOMEDCT_US:275498002
xref: UMLS:C0035243
is_a: HP:0002088 ! Abnormal lung morphology
created_by: peter
creation_date: 2012-06-21T08:26:36Z

[Term]
id: HP:0011948
name: Recurrent acute respiratory tract infection
def: "A history of repeated acute infections of the upper or lower respiratory tract." [DDD:tkuijpers]
synonym: "Acute respiratory tract infection" EXACT layperson []
xref: UMLS:C1442786
is_a: HP:0002205 ! Recurrent respiratory infections
created_by: peter
creation_date: 2012-06-21T08:30:15Z

[Term]
id: HP:0011949
name: Acute infectious pneumonia
def: "Acute inflammation of the lung due to an infection." [DDD:tkuijpers]
xref: UMLS:C4023112
is_a: HP:0011948 ! Recurrent acute respiratory tract infection
created_by: peter
creation_date: 2012-06-21T08:33:30Z

[Term]
id: HP:0011950
name: Bronchiolitis
def: "Inflammation of the bronchioles." [DDD:tkuijpers]
xref: MSH:D001988
xref: SNOMEDCT_US:4120002
xref: UMLS:C0006271
is_a: HP:0011948 ! Recurrent acute respiratory tract infection
created_by: peter
creation_date: 2012-06-21T08:36:11Z

[Term]
id: HP:0011951
name: Aspiration pneumonia
def: "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson]
xref: MSH:D011015
xref: SNOMEDCT_US:422588002
xref: UMLS:C0032290
is_a: HP:0002090 ! Pneumonia
created_by: peter
creation_date: 2012-06-21T08:40:03Z

[Term]
id: HP:0011952
name: Acute aspiration pneumonia
def: "An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson]
xref: SNOMEDCT_US:35031000119100
xref: UMLS:C4023111
is_a: HP:0011951 ! Aspiration pneumonia
created_by: peter
creation_date: 2012-06-21T08:42:03Z

[Term]
id: HP:0011953
name: Pulmonary lymphoma
def: "Lung parenchymal involvement with lymphoma." [DDD:tkuijpers]
xref: UMLS:C0519063
is_a: HP:0002665 ! Lymphoma
is_a: HP:0100526 ! Neoplasm of the lung
created_by: peter
creation_date: 2012-06-21T08:45:48Z

[Term]
id: HP:0011954
name: Nodular regenerative hyperplasia of liver
def: "Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis." [pmid:21472097]
synonym: "Nodular transformation of liver" EXACT []
synonym: "Noncirrhotic nodulation" EXACT []
synonym: "Partial nodular transformation of liver" EXACT []
xref: SNOMEDCT_US:65860006
xref: SNOMEDCT_US:715140008
xref: UMLS:C1318485
is_a: HP:0410042 ! Abnormal liver morphology
created_by: peter
creation_date: 2012-06-21T09:06:10Z

[Term]
id: HP:0011955
name: Hepatic granulomatosis
def: "The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes." [HPO:probinson]
xref: UMLS:C4023110
is_a: HP:0002955 ! Granulomatosis
is_a: HP:0410042 ! Abnormal liver morphology
created_by: peter
creation_date: 2012-06-21T09:11:32Z

[Term]
id: HP:0011956
name: Intestinal lymphoid nodular hyperplasia
def: "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [HPO:probinson, pmid:21481240]
xref: UMLS:C4023109
is_a: HP:0002242 ! Abnormal intestine morphology
created_by: peter
creation_date: 2012-06-21T09:27:07Z

[Term]
id: HP:0011957
name: Abnormal pectoral muscle morphology
def: "An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major." [HPO:probinson]
synonym: "Abnormal pec muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023108
is_a: HP:0009131 ! Abnormality of the musculature of the thorax
created_by: peter
creation_date: 2012-06-22T08:06:04Z

[Term]
id: HP:0011958
name: Retinal perforation
def: "A small hole through the whole thickness of the retina." [HPO:probinson]
comment: Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes.
synonym: "Retinal tear" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Torn retina" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012167
xref: SNOMEDCT_US:232003005
xref: SNOMEDCT_US:302888003
xref: SNOMEDCT_US:40024006
xref: SNOMEDCT_US:95690009
xref: UMLS:C0035321
is_a: HP:0000479 ! Abnormal retinal morphology
created_by: hecht
creation_date: 2012-07-07T11:24:39Z

[Term]
id: HP:0011959
name: Unilateral hypoplasia of pectoralis major muscle
def: "Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest." [HPO:probinson]
synonym: "Small pec muscle on one side" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped pec muscle on one side" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023107
is_a: HP:0011957 ! Abnormal pectoral muscle morphology
created_by: peter
creation_date: 2012-06-22T08:13:12Z

[Term]
id: HP:0011960
name: Substantia nigra gliosis
def: "Focal proliferation of glial cells in the substantia nigra." [HPO:probinson]
xref: UMLS:C1846865
is_a: HP:0002171 ! Gliosis
is_a: HP:0045007 ! Abnormality of the substantia nigra
created_by: peter
creation_date: 2012-07-16T11:50:42Z

[Term]
id: HP:0011961
name: Non-obstructive azoospermia
def: "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
synonym: "Testicular azoospermia" EXACT []
xref: UMLS:C4021107
is_a: HP:0000027 ! Azoospermia
created_by: peter
creation_date: 2012-07-16T12:22:54Z

[Term]
id: HP:0011962
name: Obstructive azoospermia
def: "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278]
xref: UMLS:C4023106
is_a: HP:0000027 ! Azoospermia
created_by: peter
creation_date: 2012-07-16T12:25:35Z

[Term]
id: HP:0011963
name: Pretesticular azoospermia
def: "Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels." [HPO:probinson, pmid:20514278]
xref: UMLS:C4023105
is_a: HP:0000027 ! Azoospermia
created_by: peter
creation_date: 2012-07-16T12:28:55Z

[Term]
id: HP:0011964
name: Intermittent painful muscle spasms
def: "History of repeated intermittent involuntary muscle contractions that were painful." [HPO:probinson]
xref: UMLS:C4023104
is_a: HP:0003394 ! Muscle spasm
created_by: peter
creation_date: 2012-07-16T01:17:16Z

[Term]
id: HP:0011965
name: Abnormal circulating citrulline concentration
def: "Any deviation from the normal concentration of citrulline in the blood circulation." [HPO:probinson]
comment: Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle.
xref: UMLS:C4023103
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2012-07-18T08:21:59Z

[Term]
id: HP:0011966
name: Elevated plasma citrulline
def: "An increased concentration of citrulline in the blood." [HPO:probinson]
xref: UMLS:C4023102
is_a: HP:0011965 ! Abnormal circulating citrulline concentration
created_by: peter
creation_date: 2012-07-18T08:23:22Z

[Term]
id: HP:0011967
name: Decreased circulating copper concentration
def: "A reduced concentration of copper in the blood." [HPO:probinson]
synonym: "Copper deficiency" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypocupremia" EXACT []
synonym: "Reduced serum copper" EXACT []
xref: SNOMEDCT_US:19577007
xref: UMLS:C0268070
is_a: HP:0010836 ! Abnormal circulating copper concentration
created_by: peter
creation_date: 2012-07-18T08:29:13Z

[Term]
id: HP:0011968
name: Feeding difficulties
def: "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
subset: hposlim_core
synonym: "Feeding difficulties" EXACT layperson []
synonym: "Feeding problems" EXACT layperson []
synonym: "Poor feeding" EXACT layperson []
xref: SNOMEDCT_US:78164000
xref: UMLS:C0232466
is_a: HP:0011458 ! Abdominal symptom
created_by: peter
creation_date: 2012-07-18T10:25:05Z

[Term]
id: HP:0011969
name: Elevated circulating luteinizing hormone level
alt_id: HP:0030343
def: "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson]
synonym: "Elevated LH level" EXACT HP:0045077 []
synonym: "Elevated luteinizing hormone" EXACT []
synonym: "Increased circulating luteinizing hormone level" EXACT []
xref: UMLS:C4023101
is_a: HP:0000837 ! Increased circulating gonadotropin level
is_a: HP:0030345 ! Abnormal circulating luteinizing hormone level
created_by: peter
creation_date: 2012-07-18T08:36:09Z

[Term]
id: HP:0011970
name: Cerebral amyloid angiopathy
def: "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, pmid:21519520]
comment: Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression.
xref: MSH:D016657
xref: SNOMEDCT_US:230724001
xref: UMLS:C0085220
is_a: HP:0011034 ! Amyloidosis
created_by: peter
creation_date: 2012-07-18T08:39:48Z

[Term]
id: HP:0011971
name: Dermatographic urticaria
def: "An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson]
synonym: "Dermatographism" EXACT []
synonym: "Dermographism" EXACT []
xref: SNOMEDCT_US:402410006
xref: SNOMEDCT_US:402601007
xref: SNOMEDCT_US:7632005
xref: UMLS:C0343065
is_a: HP:0410134 ! Physical urticaria
created_by: peter
creation_date: 2012-07-18T08:42:25Z

[Term]
id: HP:0011972
name: Hypoglycorrhachia
def: "Abnormally low glucose concentration in the cerebrospinal fluid." [HPO:probinson]
synonym: "Decreased CSF glucose" EXACT []
synonym: "Increased CSF glucose" EXACT []
synonym: "Low glucose levels in cerebral spinal fluid" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0598121
is_a: HP:0031884 ! Abnormal CSF glucose level
created_by: peter
creation_date: 2012-07-18T08:45:55Z

[Term]
id: HP:0011973
name: Paroxysmal lethargy
def: "Repeated episodes of sudden-onset and transient lethargy." [HPO:probinson]
xref: UMLS:C1847507
is_a: HP:0001254 ! Lethargy
created_by: peter
creation_date: 2012-07-18T08:48:06Z

[Term]
id: HP:0011974
name: Myelofibrosis
def: "Replacement of bone marrow by fibrous tissue." [HPO:probinson]
xref: SNOMEDCT_US:52967002
xref: UMLS:C0026987
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow
created_by: peter
creation_date: 2012-07-18T08:51:57Z

[Term]
id: HP:0011975
name: Aminoglycoside-induced hearing loss
def: "Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics." [HPO:probinson, pmid:2669624]
comment: The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth.
xref: UMLS:C4023100
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2012-07-18T08:55:03Z

[Term]
id: HP:0011976
name: Elevated urinary catecholamines
def: "An increased concentration of catecholamine in the urine." [HPO:probinson]
synonym: "Elevated urinary catecholamines" EXACT layperson []
xref: UMLS:C0241577
is_a: HP:0011281 ! Abnormality of urine catecholamine concentration
created_by: peter
creation_date: 2012-07-18T09:07:22Z

[Term]
id: HP:0011977
name: Elevated urinary homovanillic acid
def: "An increased concentration of homovanillic acid in the urine." [HPO:probinson]
synonym: "Increased urinary homovanillic acid" RELATED []
xref: UMLS:C4020736
is_a: HP:0040156 ! Elevated urinary carboxylic acid
created_by: peter
creation_date: 2012-07-18T09:10:06Z

[Term]
id: HP:0011978
name: Elevated urinary vanillylmandelic acid
def: "An increased concentration of vanillylmandelic acid in the urine." [HPO:probinson]
synonym: "Increased urinary vanillylmandelic acid" RELATED []
xref: UMLS:C4020735
is_a: HP:0040156 ! Elevated urinary carboxylic acid
created_by: peter
creation_date: 2012-07-18T09:11:52Z

[Term]
id: HP:0011979
name: Elevated urinary dopamine
def: "An increased concentration of dopamine in the urine." [HPO:probinson]
synonym: "Elevated urinary dopamine" EXACT layperson []
xref: UMLS:C4023099
is_a: HP:0011976 ! Elevated urinary catecholamines
created_by: peter
creation_date: 2012-07-18T09:13:16Z

[Term]
id: HP:0011980
name: Cholesterol gallstones
def: "Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color." [HPO:probinson, pmid:12950109, pmid:16844493]
xref: UMLS:C0856727
is_a: HP:0001081 ! Cholelithiasis
created_by: peter
creation_date: 2012-07-18T09:16:15Z

[Term]
id: HP:0011981
name: Pigment gallstones
def: "Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration." [HPO:probinson, pmid:12950109]
xref: UMLS:C3278865
is_a: HP:0001081 ! Cholelithiasis
created_by: peter
creation_date: 2012-07-18T09:18:44Z

[Term]
id: HP:0011982
name: Black pigment gallstones
def: "A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates." [HPO:probinson, pmid:12950109]
xref: UMLS:C4023098
is_a: HP:0011981 ! Pigment gallstones
created_by: peter
creation_date: 2012-07-18T09:25:05Z

[Term]
id: HP:0011983
name: Brown pigment gallstones
def: "A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones." [HPO:probinson, pmid:12950109]
xref: UMLS:C4023097
is_a: HP:0011981 ! Pigment gallstones
created_by: peter
creation_date: 2012-07-18T09:26:55Z

[Term]
id: HP:0011984
name: Atretic gallbladder
def: "Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia." [HPO:probinson]
synonym: "Gallbladder atresia" EXACT []
xref: UMLS:C3277945
is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder
created_by: peter
creation_date: 2012-07-19T10:26:35Z

[Term]
id: HP:0011985
name: Acholic stools
alt_id: HP:0200112
def: "Clay colored stools lacking bile pigment." [HPO:probinson]
synonym: "Acholia" EXACT []
synonym: "Clay colored stools" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Discolored, acholic stools" EXACT []
xref: SNOMEDCT_US:70396004
xref: UMLS:C2675627
is_a: HP:0001396 ! Cholestasis
created_by: peter
creation_date: 2012-07-19T10:31:22Z

[Term]
id: HP:0011986
name: Ectopic ossification
def: "Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist." [HPO:probinson]
synonym: "Ectopic bone formation" EXACT []
synonym: "Heterotopic ossification" EXACT []
xref: MEDDRA:10065453 "Ectopic ossification"
xref: MSH:D009999
xref: SNOMEDCT_US:128491006
xref: UMLS:C0029396
is_a: HP:0011849 ! Abnormal bone ossification
created_by: peter
creation_date: 2012-07-19T10:38:25Z

[Term]
id: HP:0011987
name: Ectopic ossification in muscle tissue
def: "Formation of abnormal bony tissue within muscle tissue." [HPO:probinson]
synonym: "Calcification of muscle tissue" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023096
is_a: HP:0011986 ! Ectopic ossification
created_by: peter
creation_date: 2012-07-19T10:46:03Z

[Term]
id: HP:0011988
name: Ectopic ossification in tendon tissue
def: "Formation of abnormal bony tissue within tendon tissue." [HPO:probinson]
xref: UMLS:C4023095
is_a: HP:0011986 ! Ectopic ossification
created_by: peter
creation_date: 2012-07-19T10:47:01Z

[Term]
id: HP:0011989
name: Ectopic ossification in ligament tissue
def: "Formation of abnormal bony tissue within ligament tissue." [HPO:probinson]
xref: UMLS:C4023094
is_a: HP:0011986 ! Ectopic ossification
created_by: peter
creation_date: 2012-07-19T10:48:31Z

[Term]
id: HP:0011990
name: Abnormality of neutrophil physiology
def: "A functional abnormality of neutrophils." [HPO:probinson]
xref: UMLS:C4023093
is_a: HP:0001874 ! Abnormality of neutrophils
created_by: peter
creation_date: 2012-07-19T10:56:37Z

[Term]
id: HP:0011991
name: Abnormal neutrophil count
def: "A deviation from the normal range of neutrophil cell counts in the circulation." [HPO:probinson]
synonym: "Abnormal neutrophil cell number" EXACT []
xref: UMLS:C4023092
is_a: HP:0001874 ! Abnormality of neutrophils
is_a: HP:0032309 ! Abnormal granulocyte count
created_by: peter
creation_date: 2012-07-19T10:59:14Z

[Term]
id: HP:0011992
name: Abnormality of neutrophil morphology
def: "An abnormal form or size of neutrophils." [HPO:probinson]
xref: UMLS:C4023091
is_a: HP:0001874 ! Abnormality of neutrophils
created_by: peter
creation_date: 2012-07-19T11:00:27Z

[Term]
id: HP:0011993
name: Impaired neutrophil bactericidal activity
def: "A reduction in the ability of neutrophils to kill bacteria." [HPO:probinson]
xref: UMLS:C4023090
is_a: HP:0011990 ! Abnormality of neutrophil physiology
created_by: peter
creation_date: 2012-07-19T11:01:32Z

[Term]
id: HP:0011994
name: Abnormal atrial septum morphology
def: "An abnormality of the interatrial septum." [HPO:probinson]
synonym: "Abnormal interatrial septum morphology" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the atrial septum" EXACT []
xref: Fyler:2002
xref: SNOMEDCT_US:253363004
xref: UMLS:C0344722
is_a: HP:0001671 ! Abnormal cardiac septum morphology
created_by: peter
creation_date: 2012-07-19T11:34:27Z

[Term]
id: HP:0011995
name: Atrial septal dilatation
def: "A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography." [HPO:probinson, pmid:7758185]
comment: Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation.
synonym: "Atrial septal aneurysm" NARROW []
xref: SNOMEDCT_US:95440004
xref: UMLS:C0521533
is_a: HP:0011994 ! Abnormal atrial septum morphology
created_by: peter
creation_date: 2012-07-19T11:35:07Z

[Term]
id: HP:0011996
name: Elevated coagulation factor V activity
def: "Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." [HPO:probinson]
synonym: "Elevated factor V activity" EXACT []
synonym: "Plasma factor V elevated" EXACT []
xref: UMLS:C4021106
is_a: HP:0031899 ! Abnormal coagulation factor V activity
created_by: peter
creation_date: 2012-07-19T11:40:31Z

[Term]
id: HP:0011997
name: Postprandial hyperlactemia
def: "Abnormally increased level of blood lactate following a meal." [HPO:probinson]
xref: UMLS:C4023089
is_a: HP:0002151 ! Increased serum lactate
created_by: peter
creation_date: 2012-07-19T12:06:39Z

[Term]
id: HP:0011998
name: Postprandial hyperglycemia
def: "An increased concentration of glucose in the blood following a meal." [HPO:probinson]
xref: MSH:D006943
xref: UMLS:C1855520
is_a: HP:0003074 ! Hyperglycemia
created_by: peter
creation_date: 2012-07-19T12:07:59Z

[Term]
id: HP:0011999
name: Paranoia
def: "A persecutory delusion of supposed hostility of others." [HPO:probinson]
synonym: "Paranoia" EXACT layperson []
xref: MSH:D010259
xref: SNOMEDCT_US:191667009
xref: UMLS:C1456784
is_a: HP:0000746 ! Delusions
created_by: peter
creation_date: 2012-07-19T01:00:23Z

[Term]
id: HP:0012000
name: EEG with generalized spikes
def: "EEG with generalized sharp transient waves of a duration less than 80 msec." [HPO:jalbers]
xref: UMLS:C2206531
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
created_by: hecht
creation_date: 2012-07-20T11:39:52Z

[Term]
id: HP:0012001
name: EEG with generalized polyspikes
def: "EEG with repetitive generalized sharp transient waves of a duration less than 80 msec." [HPO:jalbers]
xref: UMLS:C4023088
is_a: HP:0011198 ! EEG with generalized epileptiform discharges
created_by: hecht
creation_date: 2012-07-20T11:41:07Z

[Term]
id: HP:0012002
name: Experiential auras
def: "Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [HPO:probinson]
comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
xref: UMLS:C4023087
is_a: HP:0011157 ! Focal sensory seizure
created_by: hecht
creation_date: 2012-07-20T11:50:13Z

[Term]
id: HP:0012003
name: Affective auras
def: "Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [HPO:probinson]
comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
xref: UMLS:C4023086
is_a: HP:0012002 ! Experiential auras
created_by: hecht
creation_date: 2012-07-20T11:52:11Z

[Term]
id: HP:0012004
name: Mnemonic auras
def: "Auras which reflect ictal dysmnesia such as: feelings as familiarity (deja-vu) and unfamiliarity (jamais-vu)." [HPO:probinson]
comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
xref: UMLS:C4023085
is_a: HP:0012002 ! Experiential auras
created_by: hecht
creation_date: 2012-07-20T11:53:39Z

[Term]
id: HP:0012005
name: Deja vu
def: "A subjective feeling that an experience which is occurring for the first time has been experienced before." [HPO:probinson]
synonym: "Deja vu" EXACT layperson []
xref: MSH:D003690
xref: SNOMEDCT_US:313005
xref: UMLS:C0011194
is_a: HP:0012004 ! Mnemonic auras
created_by: hecht
creation_date: 2012-07-20T11:54:16Z

[Term]
id: HP:0012006
name: Jamais vu
def: "A subjective feeling that an experience which has occurred before is being experienced for the first time." [HPO:probinson]
xref: SNOMEDCT_US:28249008
xref: UMLS:C0233803
is_a: HP:0012004 ! Mnemonic auras
created_by: hecht
creation_date: 2012-07-20T11:55:38Z

[Term]
id: HP:0012007
name: Hallucinatory auras
def: "Auras with creation of composite perceptions without corresponding external stimuli involving visual, auditory, somatosensory, olfactory and/or gustatory phenomena." [HPO:probinson]
comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
xref: UMLS:C4023084
is_a: HP:0012002 ! Experiential auras
created_by: hecht
creation_date: 2012-07-20T11:56:47Z

[Term]
id: HP:0012008
name: Illusory auras
def: "Auras with an alteration of actual percepts involving the visual, auditory, somatosensory, olfactory or gustatory systems." [HPO:probinson]
comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
xref: UMLS:C4023083
is_a: HP:0012002 ! Experiential auras
created_by: hecht
creation_date: 2012-07-20T11:57:32Z

[Term]
id: HP:0012009
name: EEG with central focal spike waves
def: "EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023082
is_a: HP:0011197 ! EEG with focal spike waves
created_by: hecht
creation_date: 2012-07-20T11:58:18Z

[Term]
id: HP:0012010
name: EEG with frontal focal spike waves
def: "EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023081
is_a: HP:0011197 ! EEG with focal spike waves
created_by: hecht
creation_date: 2012-07-20T11:59:21Z

[Term]
id: HP:0012011
name: EEG with occipital focal spike waves
def: "EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023080
is_a: HP:0011197 ! EEG with focal spike waves
created_by: hecht
creation_date: 2012-07-20T11:59:43Z

[Term]
id: HP:0012012
name: EEG with parietal focal spike waves
def: "EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023079
is_a: HP:0011197 ! EEG with focal spike waves
created_by: hecht
creation_date: 2012-07-20T12:00:43Z

[Term]
id: HP:0012013
name: EEG with temporal focal spike waves
def: "EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers]
xref: UMLS:C4023078
is_a: HP:0011197 ! EEG with focal spike waves
created_by: hecht
creation_date: 2012-07-20T12:01:01Z

[Term]
id: HP:0012014
name: EEG with central focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the central region." [HPO:jalbers]
xref: UMLS:C4023077
is_a: HP:0011193 ! EEG with focal spikes
created_by: hecht
creation_date: 2012-07-20T12:01:29Z

[Term]
id: HP:0012015
name: EEG with frontal focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region." [HPO:jalbers]
xref: UMLS:C4023076
is_a: HP:0011193 ! EEG with focal spikes
created_by: hecht
creation_date: 2012-07-20T12:02:12Z

[Term]
id: HP:0012016
name: EEG with occipital focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region." [HPO:jalbers]
xref: UMLS:C4023075
is_a: HP:0011193 ! EEG with focal spikes
created_by: hecht
creation_date: 2012-07-20T12:02:28Z

[Term]
id: HP:0012017
name: EEG with parietal focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region." [HPO:jalbers]
xref: UMLS:C4023074
is_a: HP:0011193 ! EEG with focal spikes
created_by: hecht
creation_date: 2012-07-20T12:02:43Z

[Term]
id: HP:0012018
name: EEG with temporal focal spikes
def: "EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region." [HPO:jalbers]
xref: UMLS:C4023073
is_a: HP:0011193 ! EEG with focal spikes
created_by: hecht
creation_date: 2012-07-20T12:02:59Z

[Term]
id: HP:0012019
name: Lens luxation
def: "Complete dislocation of the lens of the eye." [HPO:probinson]
synonym: "Dislocated lens" EXACT layperson [ORCID:0000-0002-6548-5200]
synonym: "Dislocated lenses" EXACT layperson []
xref: MSH:D007906
xref: UMLS:C0023309
is_a: HP:0001083 ! Ectopia lentis
created_by: peter
creation_date: 2012-07-26T10:40:02Z

[Term]
id: HP:0012020
name: Right aortic arch
def: "Aorta descends on right instead of on the left." [HPO:probinson]
comment: The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm.
synonym: "Right-sided aortic arch" EXACT []
xref: Fyler:2720
xref: SNOMEDCT_US:111321007
xref: SNOMEDCT_US:244229003
xref: UMLS:C0035615
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
created_by: peter
creation_date: 2012-07-26T09:25:32Z

[Term]
id: HP:0012021
name: Persistent patent ductus venosus
def: "Persistence of blood flow through the ductus venosus for longer than the normal time after birth." [HPO:probinson, pmid:16449256]
comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth.
xref: UMLS:C4023072
is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system
created_by: peter
creation_date: 2012-07-26T10:10:58Z

[Term]
id: HP:0012022
name: Congenital portosystemic venous shunt
def: "A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver)." [HPO:probinson]
xref: MSH:C562830
xref: SNOMEDCT_US:253330006
xref: UMLS:C0344688
is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system
created_by: peter
creation_date: 2012-07-26T10:16:40Z

[Term]
id: HP:0012023
name: Galactosuria
def: "Elevated concentration of galactose in the urine." [HPO:probinson]
synonym: "Increased urinary galactose level" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:71690006
xref: UMLS:C0268157
is_a: HP:0031979 ! Abnormal urine carbohydrate level
created_by: peter
creation_date: 2012-07-26T10:31:35Z

[Term]
id: HP:0012024
name: Hypergalactosemia
def: "Elevated concentration of galactose in the blood." [HPO:probinson]
comment: Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400).
synonym: "Galactosemia" RELATED []
xref: MSH:D005693
xref: SNOMEDCT_US:190745006
xref: SNOMEDCT_US:190749000
xref: UMLS:C0016952
xref: UMLS:C4023071
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
created_by: peter
creation_date: 2012-07-26T10:35:58Z

[Term]
id: HP:0012025
name: Abnormal circulating ornithine concentration
def: "Deviation from the normal concentration of ornithine in the blood circulation." [HPO:probinson]
comment: Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs.
xref: UMLS:C4023070
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2012-07-26T10:48:59Z

[Term]
id: HP:0012026
name: Hyperornithinemia
def: "Increased concentration of ornithine in the blood." [HPO:probinson]
synonym: "High blood ornithine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D015799
xref: SNOMEDCT_US:276426004
xref: SNOMEDCT_US:33985005
xref: UMLS:C0599035
is_a: HP:0012025 ! Abnormal circulating ornithine concentration
created_by: peter
creation_date: 2012-07-26T10:49:54Z

[Term]
id: HP:0012027
name: Laryngeal edema
def: "An abnormal accumulation of fluid and swelling in the tissues of the larynx." [HPO:probinson]
xref: MSH:D007819
xref: SNOMEDCT_US:51599000
xref: UMLS:C0023052
is_a: HP:0000969 ! Edema
is_a: HP:0025423 ! Abnormal larynx morphology
created_by: peter
creation_date: 2012-07-26T10:51:45Z

[Term]
id: HP:0012028
name: Hepatocellular adenoma
def: "A benign tumor of the liver of presumably epithelial origin." [HPO:probinson]
synonym: "Hepatic adenoma" EXACT []
synonym: "Liver cell adenoma" EXACT []
xref: MPATH:353 "hepatocellular adenoma"
xref: MSH:D018248
xref: SNOMEDCT_US:424263008
xref: SNOMEDCT_US:78058005
xref: UMLS:C0206669
is_a: HP:0002896 ! Neoplasm of the liver
created_by: peter
creation_date: 2012-07-27T01:24:44Z

[Term]
id: HP:0012029
name: Abnormal urine hormone level
def: "An abnormal concentration of a hormone in the urine." [HPO:probinson]
synonym: "Abnormality of urine hormone level" EXACT []
xref: UMLS:C4023069
is_a: HP:0000818 ! Abnormality of the endocrine system
created_by: peter
creation_date: 2012-07-27T01:29:51Z

[Term]
id: HP:0012030
name: Increased urinary cortisol level
def: "Abnormally increased concentration of cortisol in the urine." [HPO:probinson]
synonym: "High urine cortisol level" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023068
is_a: HP:0012029 ! Abnormal urine hormone level
created_by: peter
creation_date: 2012-07-27T01:30:44Z

[Term]
id: HP:0012031
name: Lipomatous tumor
xref: MPATH:415 "lipomatous tumor"
xref: MSH:D018205
xref: SNOMEDCT_US:115227001
xref: SNOMEDCT_US:254827004
xref: SNOMEDCT_US:254831005
xref: UMLS:C0206631
is_a: HP:0200013 ! Neoplasm of fatty tissue
created_by: peter
creation_date: 2012-07-27T01:32:28Z

[Term]
id: HP:0012032
name: Lipoma
def: "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417]
subset: hposlim_core
synonym: "Fatty lump" EXACT layperson []
synonym: "Noncancerous fatty lump" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10024612 "Lipoma"
xref: MPATH:417 "lipoma"
xref: MSH:D008067
xref: SNOMEDCT_US:46720004
xref: SNOMEDCT_US:93163002
xref: UMLS:C0023798
is_a: HP:0012031 ! Lipomatous tumor
created_by: peter
creation_date: 2012-07-27T01:33:13Z

[Term]
id: HP:0012033
name: Sacral lipoma
def: "Presence of a lipoma in the region of the sacrum." [HPO:probinson]
xref: UMLS:C4021835
is_a: HP:0012032 ! Lipoma
created_by: peter
creation_date: 2012-07-27T01:37:57Z

[Term]
id: HP:0012034
name: Liposarcoma
def: "Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway." [MPATH:418]
xref: MPATH:418 "Liposarcoma"
xref: MSH:D008080
xref: SNOMEDCT_US:254829001
xref: SNOMEDCT_US:49430005
xref: UMLS:C0023827
is_a: HP:0012031 ! Lipomatous tumor
created_by: peter
creation_date: 2012-07-27T01:40:25Z

[Term]
id: HP:0012035
name: Steatocystoma multiplex
def: "Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities)." [HPO:probinson, pmid:20631281]
comment: Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement.
xref: MSH:D062685
xref: SNOMEDCT_US:109433009
xref: UMLS:C0259771
is_a: HP:0008069 ! Neoplasm of the skin
created_by: peter
creation_date: 2012-07-27T01:45:14Z

[Term]
id: HP:0012036
name: Sternocleidomastoid amyotrophy
def: "Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head." [HPO:probinson]
xref: UMLS:C4023067
is_a: HP:0003202 ! Skeletal muscle atrophy
created_by: peter
creation_date: 2012-07-27T01:51:24Z

[Term]
id: HP:0012037
name: Pectoralis amyotrophy
def: "Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor." [HPO:probinson]
synonym: "Wasting of pec muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023066
is_a: HP:0003202 ! Skeletal muscle atrophy
is_a: HP:0011957 ! Abnormal pectoral muscle morphology
created_by: peter
creation_date: 2012-07-27T01:55:38Z

[Term]
id: HP:0012038
name: Corneal guttata
def: "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible." [HPO:probinson, pmid:10611102, pmid:11222329]
comment: Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy.
synonym: "Corneal endothelial guttata" EXACT []
xref: SNOMEDCT_US:373424008
xref: UMLS:C0271288
is_a: HP:0011490 ! Abnormal Descemet membrane morphology
created_by: peter
creation_date: 2012-07-27T02:06:24Z

[Term]
id: HP:0012039
name: Descemet Membrane Folds
def: "Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea." [HPO:probinson]
xref: SNOMEDCT_US:193821003
xref: UMLS:C0155116
is_a: HP:0011490 ! Abnormal Descemet membrane morphology
created_by: peter
creation_date: 2012-07-27T02:14:55Z

[Term]
id: HP:0012040
name: Corneal stromal edema
def: "Abnormal accumulation of fluid and swelling of the stroma of cornea." [HPO:probinson]
xref: SNOMEDCT_US:373430008
xref: UMLS:C0474444
is_a: HP:0000969 ! Edema
is_a: HP:0011492 ! Abnormality of corneal stroma
created_by: peter
creation_date: 2012-07-27T02:19:25Z

[Term]
id: HP:0012041
name: Decreased fertility in males
synonym: "Decreased fertility in males" EXACT layperson []
xref: UMLS:C0151640
is_a: HP:0000144 ! Decreased fertility
created_by: peter
creation_date: 2012-07-30T06:50:19Z

[Term]
id: HP:0012042
name: Aspirin-induced asthma
def: "A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction." [pmid:12743549]
synonym: "Aspirin-induced asthma" EXACT layperson []
xref: MSH:D055963
xref: SNOMEDCT_US:407674008
xref: UMLS:C1319853
is_a: HP:0002099 ! Asthma
created_by: peter
creation_date: 2012-08-01T11:22:04Z

[Term]
id: HP:0012043
name: Pendular nystagmus
def: "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson]
synonym: "Nystagmus, continuous pendular" RELATED [HPO:skoehler]
synonym: "Nystagmus, pendular" RELATED [HPO:skoehler]
xref: MSH:D009759
xref: SNOMEDCT_US:35743001
xref: UMLS:C0271388
xref: UMLS:C4020734
is_a: HP:0000639 ! Nystagmus
created_by: peter
creation_date: 2012-08-01T12:04:00Z

[Term]
id: HP:0012044
name: Seesaw nystagmus
def: "Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements." [HPO:probinson]
comment: Seesaw nystagmus can be a manifestation of lesions of the optic chiasma.
xref: MSH:D009759
xref: SNOMEDCT_US:95782001
xref: UMLS:C0344243
is_a: HP:0012043 ! Pendular nystagmus
created_by: peter
creation_date: 2012-08-01T12:06:36Z

[Term]
id: HP:0012045
name: Retinal flecks
def: "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions." [pmid:7952338]
xref: SNOMEDCT_US:247138002
xref: UMLS:C0423414
is_a: HP:0030506 ! Yellow/white lesions of the retina
created_by: peter
creation_date: 2012-08-01T12:17:00Z

[Term]
id: HP:0012046
name: Areflexia of upper limbs
def: "Inability to elicit tendon reflexes in the upper limbs." [HPO:probinson]
xref: UMLS:C2674177
is_a: HP:0001284 ! Areflexia
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: peter
creation_date: 2012-08-01T12:24:31Z

[Term]
id: HP:0012047
name: Hemeralopia
def: "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [HPO:probinson]
synonym: "Day blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: MSH:D014786
xref: SNOMEDCT_US:399323001
xref: UMLS:C0018975
is_a: HP:0000504 ! Abnormality of vision
created_by: peter
creation_date: 2012-08-01T12:26:28Z

[Term]
id: HP:0012048
name: Oromandibular dystonia
alt_id: HP:0001494
def: "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson]
synonym: "Cranial dystonia" EXACT []
xref: UMLS:C2242577
is_a: HP:0012179 ! Craniofacial dystonia
created_by: peter
creation_date: 2012-08-01T12:29:50Z

[Term]
id: HP:0012049
name: Laryngeal dystonia
def: "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson]
synonym: "Spasmodic dysphonia" EXACT []
xref: SNOMEDCT_US:3331000119108
xref: UMLS:C1963946
is_a: HP:0001618 ! Dysphonia
is_a: HP:0004373 ! Focal dystonia
created_by: peter
creation_date: 2012-08-01T12:34:41Z

[Term]
id: HP:0012050
name: Anasarca
def: "An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space." [HPO:probinson]
synonym: "Extreme generalized edema" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D004487
xref: SNOMEDCT_US:16740003
xref: SNOMEDCT_US:442433009
xref: UMLS:C0151603
is_a: HP:0007430 ! Generalized edema
created_by: peter
creation_date: 2012-08-01T12:53:48Z

[Term]
id: HP:0012051
name: Reactive hypoglycemia
def: "Hypoglycermia following a meal (or more generally, after intake of glucose)." [HPO:probinson]
comment: Reactive hypoglycemia may be the result of an exaggerated insulin response.
synonym: "Low blood sugar after a meal" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Postprandial hypoglycemia" EXACT []
xref: MSH:D007003
xref: SNOMEDCT_US:237638000
xref: SNOMEDCT_US:317006
xref: UMLS:C0271710
is_a: HP:0001943 ! Hypoglycemia
created_by: peter
creation_date: 2012-08-01T12:57:57Z

[Term]
id: HP:0012052
name: Low serum calcitriol
def: "A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [HPO:probinson]
synonym: "Low serum 1,25-dihydroxycholecalciferol" EXACT []
synonym: "Low serum 1,25-dihydroxyvitamin D3" EXACT []
xref: UMLS:C4023065
is_a: HP:0100511 ! Abnormality of vitamin D metabolism
created_by: peter
creation_date: 2012-08-01T01:02:39Z

[Term]
id: HP:0012053
name: Low serum calcifediol
def: "A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3." [HPO:probinson]
synonym: "Low serum 25-hydroxycholecalciferol" EXACT []
synonym: "Low serum calcidiol" EXACT []
xref: UMLS:C4023064
is_a: HP:0100511 ! Abnormality of vitamin D metabolism
created_by: peter
creation_date: 2012-08-01T01:04:42Z

[Term]
id: HP:0012054
name: Choroidal melanoma
def: "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [HPO:probinson, pmid:22557869]
xref: NCIT:C3224
xref: SNOMEDCT_US:255021005
xref: UMLS:C0346388
is_a: HP:0007716 ! Uveal melanoma
created_by: peter
creation_date: 2012-08-01T01:59:00Z

[Term]
id: HP:0012055
name: Ciliary body melanoma
def: "Malignant tumor of melanocytes of the ciliary body." [HPO:probinson]
xref: NCIT:C3224
xref: SNOMEDCT_US:255015006
xref: UMLS:C0346379
is_a: HP:0007716 ! Uveal melanoma
is_a: HP:0012776 ! Abnormal ciliary body morphology
created_by: peter
creation_date: 2012-08-01T02:01:02Z

[Term]
id: HP:0012056
name: Cutaneous melanoma
def: "The presence of a melanoma of the skin." [HPO:probinson]
comment: The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma.
xref: MSH:D008545
xref: NCIT:C3224
xref: SNOMEDCT_US:2092003
xref: SNOMEDCT_US:372244006
xref: UMLS:C0025202
is_a: HP:0002861 ! Melanoma
is_a: HP:0008069 ! Neoplasm of the skin
created_by: peter
creation_date: 2012-08-01T02:04:21Z

[Term]
id: HP:0012057
name: Superficial spreading melanoma
def: "A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown." [HPO:probinson]
xref: SNOMEDCT_US:254730000
xref: SNOMEDCT_US:55320002
xref: UMLS:C0334438
is_a: HP:0012056 ! Cutaneous melanoma
created_by: peter
creation_date: 2012-08-01T02:07:52Z

[Term]
id: HP:0012058
name: Nodular melanoma
def: "A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color." [HPO:probinson]
xref: SNOMEDCT_US:2142002
xref: SNOMEDCT_US:254731001
xref: UMLS:C0334424
is_a: HP:0012056 ! Cutaneous melanoma
created_by: peter
creation_date: 2012-08-01T02:08:50Z

[Term]
id: HP:0012059
name: Lentigo maligna melanoma
def: "A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging." [HPO:7734995, HPO:probinson]
xref: SNOMEDCT_US:302837001
xref: SNOMEDCT_US:44474009
xref: UMLS:C2739810
is_a: HP:0012056 ! Cutaneous melanoma
created_by: peter
creation_date: 2012-08-01T02:16:45Z

[Term]
id: HP:0012060
name: Acral lentiginous melanoma
def: "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [HPO:probinson]
xref: SNOMEDCT_US:16974005
xref: SNOMEDCT_US:254732008
xref: UMLS:C0346037
is_a: HP:0012056 ! Cutaneous melanoma
created_by: peter
creation_date: 2012-08-01T02:17:02Z

[Term]
id: HP:0012061
name: Urinary excretion of sialylated oligosaccharides
def: "Excretion of oligosaccharides conjugated to sialic acid in the urine." [HPO:probinson]
synonym: "Increased urinary sialyloligosaccharides" EXACT []
xref: UMLS:C2673302
is_a: HP:0010471 ! Oligosacchariduria
created_by: hecht
creation_date: 2012-08-04T02:14:44Z

[Term]
id: HP:0012062
name: Bone cyst
alt_id: HP:0100696
def: "A fluid filled cavity that develops with a bone." [HPO:probinson]
comment: Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture.
synonym: "Bone cyst" EXACT layperson []
synonym: "Bone cysts" EXACT layperson []
xref: MSH:D001845
xref: SNOMEDCT_US:112643007
xref: SNOMEDCT_US:203465002
xref: SNOMEDCT_US:203467005
xref: SNOMEDCT_US:66954000
xref: UMLS:C0005937
is_a: HP:0003330 ! Abnormal bone structure
created_by: hecht
creation_date: 2012-08-03T02:35:39Z

[Term]
id: HP:0012063
name: Aneurysmal bone cyst
def: "Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging." [HPO:probinson, pmid:22474093, pmid:7863874]
xref: MSH:D017824
xref: SNOMEDCT_US:203468000
xref: SNOMEDCT_US:76000001
xref: UMLS:C0152244
is_a: HP:0012062 ! Bone cyst
created_by: hecht
creation_date: 2012-08-03T02:35:52Z

[Term]
id: HP:0012064
name: Unicameral bone cyst
def: "A benign fluid filled simple cyst of bone filled with serous fluid." [HPO:probinson]
xref: SNOMEDCT_US:112643007
xref: SNOMEDCT_US:203467005
xref: UMLS:C4082185
is_a: HP:0012062 ! Bone cyst
created_by: hecht
creation_date: 2012-08-03T02:42:14Z

[Term]
id: HP:0012065
name: Multiple bony cystic lesions
def: "Presence of multiple cystic changes in multiple areas or multiple bones." [HPO:probinson]
synonym: "Multiple bony cystic lesions" EXACT layperson []
xref: UMLS:C4023063
is_a: HP:0012062 ! Bone cyst
created_by: hecht
creation_date: 2012-08-03T02:45:09Z

[Term]
id: HP:0012066
name: Increased urinary disaccharide excretion
def: "Increased concentration of disaccharide in the urine." [HPO:probinson]
comment: Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine.
xref: UMLS:C4023062
is_a: HP:0010471 ! Oligosacchariduria
created_by: hecht
creation_date: 2012-08-04T02:54:28Z

[Term]
id: HP:0012067
name: Glycopeptiduria
def: "Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues." [HPO:probinson]
comment: This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties.
synonym: "High urine glycopeptide levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023061
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: hecht
creation_date: 2012-08-04T03:03:03Z

[Term]
id: HP:0012068
name: Aspartylglucosaminuria
def: "Excretion of excess amounts of aspartylglucosamine in the urine." [HPO:probinson]
synonym: "High urine aspartylglucosamine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D054880
xref: SNOMEDCT_US:54954004
xref: UMLS:C0268225
is_a: HP:0012067 ! Glycopeptiduria
created_by: hecht
creation_date: 2012-08-04T03:15:37Z

[Term]
id: HP:0012069
name: Keratan sulfate excretion in urine
def: "An increased concentration of keratan sulfate in the urine." [HPO:probinson]
comment: Keratan sulfate is a a glycosaminoglycan.
xref: UMLS:C4023060
is_a: HP:0008155 ! Mucopolysacchariduria
created_by: hecht
creation_date: 2012-08-04T03:20:15Z

[Term]
id: HP:0012070
name: Chondroitin sulfate excretion in urine
def: "An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine." [HPO:probinson]
comment: Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage.
xref: UMLS:C4023059
is_a: HP:0008155 ! Mucopolysacchariduria
created_by: hecht
creation_date: 2012-08-04T03:22:36Z

[Term]
id: HP:0012071
name: Abnormal circulating acetylcarnitine concentration
def: "Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine." [HPO:probinson]
comment: Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases.
synonym: "Abnormal acetylcarnitine profile" RELATED []
xref: UMLS:C4020733
xref: UMLS:C4023058
is_a: HP:0010967 ! Abnormal circulating carnitine concentration
created_by: hecht
creation_date: 2012-08-11T09:03:41Z

[Term]
id: HP:0012072
name: Aciduria
def: "Excretion of urine with an acid pH." [HPO:probinson]
xref: SNOMEDCT_US:21806007
xref: UMLS:C0278026
is_a: HP:0003110 ! Abnormality of urine homeostasis

[Term]
id: HP:0012073
name: Abnormal urinary acylglycine profile
def: "An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution." [HPO:probinson, pmid:10870848]
comment: N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders.
xref: UMLS:C4023057
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: hecht
creation_date: 2012-08-11T09:46:03Z

[Term]
id: HP:0012074
name: Tonic pupil
def: "An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation." [HPO:probinson]
subset: hposlim_core
synonym: "Adie pupil" EXACT []
synonym: "Adie's tonic pupil" EXACT []
xref: MSH:D015845
xref: SNOMEDCT_US:24225004
xref: UMLS:C0040416
is_a: HP:0007686 ! Abnormal pupillary function
created_by: hecht
creation_date: 2012-08-11T09:58:20Z

[Term]
id: HP:0012075
name: Personality disorder
def: "An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder." [HPO:probinson]
comment: A Personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood.
xref: ICD-10:F60 "Specific personality disorders"
xref: MSH:D010554
xref: SNOMEDCT_US:33449004
xref: UMLS:C0031212
is_a: HP:0031466 ! Impairment in personality functioning
created_by: hecht
creation_date: 2012-08-11T02:20:27Z

[Term]
id: HP:0012076
name: Borderline personality disorder
def: "A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions." [HPO:probinson]
synonym: "BPD" EXACT HP:0045077 []
xref: ICD-10:F60.3 "Emotionally unstable personality disorder, borderline type"
xref: MSH:D001883
xref: SNOMEDCT_US:20010003
xref: UMLS:C0006012
is_a: HP:0012075 ! Personality disorder
created_by: hecht
creation_date: 2012-08-11T02:26:02Z

[Term]
id: HP:0012077
name: Histrionic personality disorder
def: "A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention." [ICD-10:F60.4]
xref: ICD-10:F60.4 "Histrionic personality disorder"
xref: MSH:D006677
xref: SNOMEDCT_US:55341008
xref: UMLS:C0019681
is_a: HP:0012075 ! Personality disorder
created_by: hecht
creation_date: 2012-08-11T02:38:39Z

[Term]
id: HP:0012078
name: Motor conduction block
def: "Blockade of impulses at a focal site along the course of a motor axon." [HPO:probinson]
xref: UMLS:C4023056
is_a: HP:0000762 ! Decreased nerve conduction velocity
is_a: HP:0040131 ! Abnormal motor nerve conduction velocity
created_by: peter
creation_date: 2012-08-18T04:34:49Z

[Term]
id: HP:0012079
name: Abnormality of central motor conduction
def: "Any anomaly of the conduction of motor nerve impulses in the central nervous system." [HPO:probinson, pmid:3572430]
comment: Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts.
xref: UMLS:C4023055
is_a: HP:0011442 ! Abnormality of central motor function
created_by: peter
creation_date: 2012-08-18T04:41:05Z

[Term]
id: HP:0012080
name: Cerebellar granular layer atrophy
def: "Atrophy of the cerebellum affecting primarily the granular cell layer." [HPO:probinson]
xref: UMLS:C4023054
is_a: HP:0001272 ! Cerebellar atrophy
created_by: peter
creation_date: 2012-08-18T05:23:55Z

[Term]
id: HP:0012081
name: Enlarged cerebellum
def: "An abnormally increased size of the cerebellum compared to other brain structures." [HPO:probinson]
xref: UMLS:C3278024
is_a: HP:0001317 ! Abnormal cerebellum morphology
created_by: peter
creation_date: 2012-08-18T05:29:26Z

[Term]
id: HP:0012082
name: Cerebellar Purkinje layer atrophy
def: "Atrophy of the cerebellum affecting primarily the Purkinje cell layer." [HPO:probinson]
xref: UMLS:C4023053
is_a: HP:0001272 ! Cerebellar atrophy
created_by: peter
creation_date: 2012-08-18T05:31:43Z

[Term]
id: HP:0012083
name: Ubiquitin-positive cerebral inclusion bodies
def: "Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain." [HPO:probinson]
xref: UMLS:C4023052
is_a: HP:0100314 ! Cerebral inclusion bodies
created_by: peter
creation_date: 2012-08-18T05:34:56Z

[Term]
id: HP:0012084
name: Abnormality of skeletal muscle fiber size
def: "Any abnormality of the size of the skeletal muscle cell." [HPO:probinson]
xref: UMLS:C4023051
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: peter
creation_date: 2012-08-20T03:19:54Z

[Term]
id: HP:0012085
name: Pyuria
def: "Presence of an increased number of neutrophils in the urine." [HPO:probinson]
synonym: "High urine neutrophil count" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Leukocyturia" RELATED []
xref: MSH:D011776
xref: SNOMEDCT_US:275765006
xref: SNOMEDCT_US:4800001
xref: UMLS:C0034359
is_a: HP:0012614 ! Abnormal urine cytology
created_by: peter
creation_date: 2012-08-20T09:10:26Z

[Term]
id: HP:0012086
name: Abnormal urinary color
def: "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson]
synonym: "Abnormal urinary color" EXACT layperson []
synonym: "Abnormal urinary colour" EXACT layperson []
synonym: "Abnormal urine color" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:102867009
xref: SNOMEDCT_US:167239007
xref: UMLS:C0522153
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2012-08-20T09:12:30Z

[Term]
id: HP:0012087
name: Abnormal mitochondrial shape
def: "An anomaly in the surface contour of mitochondria." [HPO:probinson, MP:0011633]
xref: UMLS:C4023050
is_a: HP:0008322 ! Abnormal mitochondrial morphology
created_by: peter
creation_date: 2012-09-08T11:02:39Z

[Term]
id: HP:0012088
name: Abnormal urinary odor
def: "A deviation from the normal odor of the urine." [HPO:probinson]
comment: Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine.
synonym: "Abnormal urinary odor" EXACT layperson []
synonym: "Abnormal urinary odour" EXACT layperson []
synonym: "Abnormal urine smell" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:8769003
xref: UMLS:C0278045
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2012-08-20T09:13:26Z

[Term]
id: HP:0012089
name: Arteritis
def: "Arterial inflammation." [HPO:probinson]
synonym: "Inflammation of artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D001167
xref: SNOMEDCT_US:52089001
xref: UMLS:C0003860
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: peter
creation_date: 2012-08-20T09:15:19Z

[Term]
id: HP:0012090
name: Abnormal pancreas morphology
synonym: "Abnormality of pancreas morphology" EXACT []
synonym: "Abnormally shaped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4023049
is_a: HP:0001732 ! Abnormality of the pancreas
created_by: peter
creation_date: 2012-08-20T09:16:38Z

[Term]
id: HP:0012091
name: Abnormality of pancreas physiology
def: "An anomaly of the function of the pancreas." [HPO:probinson]
xref: UMLS:C4023048
is_a: HP:0001732 ! Abnormality of the pancreas
created_by: peter
creation_date: 2012-08-20T09:17:10Z

[Term]
id: HP:0012092
name: Abnormality of exocrine pancreas physiology
def: "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes." [HPO:probinson]
synonym: "Abnormal exocrine pancreatic function" EXACT [HPO:skoehler]
xref: UMLS:C4021103
is_a: HP:0012091 ! Abnormality of pancreas physiology
created_by: peter
creation_date: 2012-08-20T09:17:46Z

[Term]
id: HP:0012093
name: Abnormality of endocrine pancreas physiology
def: "A function abnormality of the endocrine pancreas." [HPO:probinson]
xref: UMLS:C4023047
is_a: HP:0000818 ! Abnormality of the endocrine system
is_a: HP:0012091 ! Abnormality of pancreas physiology
created_by: peter
creation_date: 2012-08-20T09:18:18Z

[Term]
id: HP:0012094
name: Abnormal pancreas size
def: "A deviation from the normal size of the pancreas." [HPO:probinson]
synonym: "Abnormal pancreas size" EXACT layperson []
xref: UMLS:C4023046
is_a: HP:0012090 ! Abnormal pancreas morphology
created_by: peter
creation_date: 2012-08-20T09:19:08Z

[Term]
id: HP:0012095
name: Multiple joint dislocation
def: "Dislocation of many joints." [HPO:probinson]
synonym: "Multiple joint dislocations" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:287096003
xref: SNOMEDCT_US:34277002
xref: UMLS:C0332792
is_a: HP:0001373 ! Joint dislocation
created_by: peter
creation_date: 2012-08-20T09:19:52Z

[Term]
id: HP:0012096
name: Intracranial epidermoid cyst
def: "A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development." [HPO:probinson, pmid:16714456]
comment: See Figure 8 in pmid:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages.
xref: UMLS:C4023045
is_a: HP:0010576 ! Intracranial cystic lesion
created_by: peter
creation_date: 2012-08-20T09:21:24Z

[Term]
id: HP:0012097
name: Intracranial dermoid cyst
def: "A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands." [HPO:probinson, pmid:16714456]
comment: See Figure 9 in pmid:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death.
xref: UMLS:C4023044
is_a: HP:0010576 ! Intracranial cystic lesion
created_by: peter
creation_date: 2012-08-20T09:22:25Z

[Term]
id: HP:0012098
name: Edema of the dorsum of feet
def: "An abnormal accumulation of fluid beneath the skin on the back of the feet." [HPO:probinson]
synonym: "Edema of dorsum of feet" EXACT []
xref: SNOMEDCT_US:445124008
xref: UMLS:C2919341
is_a: HP:0010741 ! Pedal edema
created_by: peter
creation_date: 2012-08-20T09:33:33Z

[Term]
id: HP:0012099
name: Abnormality of circulating catecholamine level
def: "An abnormal catecholamine concentration in the blood." [HPO:probinson]
synonym: "Catecholamine levels abnormal" EXACT []
xref: UMLS:C4021102
is_a: HP:0003117 ! Abnormal circulating hormone level
created_by: hecht
creation_date: 2012-08-22T08:20:01Z

[Term]
id: HP:0012100
name: Abnormal circulating creatinine level
def: "An abnormal concentration of creatinine in the blood." [HPO:probinson]
synonym: "Abnormal blood creatinine level" EXACT layperson []
synonym: "Creatinine levels abnormal" EXACT layperson []
xref: UMLS:C4021101
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
created_by: hecht
creation_date: 2012-08-22T08:40:14Z

[Term]
id: HP:0012101
name: Decreased serum creatinine
def: "An abnormally reduced amount of creatinine in the blood." [HPO:probinson]
synonym: "Decreased serum creatinine" EXACT layperson []
synonym: "Low blood creatinine level" EXACT layperson []
synonym: "Reduced creatinine levels" EXACT layperson []
xref: SNOMEDCT_US:166715006
xref: UMLS:C0428282
is_a: HP:0012100 ! Abnormal circulating creatinine level
created_by: hecht
creation_date: 2012-08-22T08:42:16Z

[Term]
id: HP:0012102
name: Abnormal mitochondrial number
def: "A deviation from the normal number of mitochondria per cell." [HPO:probinson]
xref: UMLS:C4023043
is_a: HP:0008322 ! Abnormal mitochondrial morphology
created_by: peter
creation_date: 2012-09-08T11:03:33Z

[Term]
id: HP:0012103
name: Abnormality of the mitochondrion
def: "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration." [HPO:probinson]
synonym: "Mitochondrial abnormalities" RELATED [HPO:skoehler]
xref: UMLS:C4020732
xref: UMLS:C4023042
is_a: HP:0011017 ! Abnormal cellular physiology
created_by: peter
creation_date: 2012-09-08T11:05:06Z

[Term]
id: HP:0012104
name: Parietal cortical atrophy
def: "Atrophy of the parietal cortex." [HPO:probinson]
xref: UMLS:C4023041
is_a: HP:0002120 ! Cerebral cortical atrophy
created_by: peter
creation_date: 2012-09-08T02:50:05Z

[Term]
id: HP:0012105
name: Occipital cortical atrophy
def: "Atrophy of the occipital cortex." [HPO:probinson]
xref: UMLS:C4023040
is_a: HP:0002120 ! Cerebral cortical atrophy
created_by: peter
creation_date: 2012-09-08T02:50:53Z

[Term]
id: HP:0012106
name: Rhizomelic leg shortening
def: "Disproportionate shortening of the proximal segment of the leg (i.e. the femur)." [HPO:probinson]
xref: UMLS:C4023039
is_a: HP:0008905 ! Rhizomelia
created_by: peter
creation_date: 2012-09-08T03:53:33Z

[Term]
id: HP:0012107
name: Increased fibular diameter
alt_id: HP:0200082
def: "Increased width of the cross sectional diameter of the fibula." [HPO:probinson, MP:0008159]
synonym: "Thick fibula" EXACT []
synonym: "Thick fibulae" EXACT []
synonym: "Wide calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide fibula" EXACT []
xref: UMLS:C4021100
is_a: HP:0002991 ! Abnormality of fibula morphology
is_a: HP:0005622 ! Broad long bones
created_by: peter
creation_date: 2012-09-08T04:03:50Z

[Term]
id: HP:0012108
name: Open angle glaucoma
def: "A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure," [HPO:probinson, pmid:11815354]
comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis.
synonym: "Primary open angle glaucoma" RELATED []
xref: MSH:C562750
xref: SNOMEDCT_US:77075001
xref: UMLS:C0339573
is_a: HP:0000501 ! Glaucoma
created_by: peter
creation_date: 2012-09-10T05:17:24Z

[Term]
id: HP:0012109
name: Angle closure glaucoma
def: "A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact)." [HPO:probinson, pmid:11815354, UManchester:psergouniotis]
comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis.
synonym: "Primary angle closure glaucoma" RELATED []
xref: SNOMEDCT_US:392288006
xref: UMLS:C0017606
is_a: HP:0000501 ! Glaucoma
created_by: peter
creation_date: 2012-09-10T05:22:48Z

[Term]
id: HP:0012110
name: Hypoplasia of the pons
def: "Underdevelopment of the pons." [HPO:probinson]
synonym: "Pontine hypoplasia" EXACT []
xref: UMLS:C1848529
is_a: HP:0007361 ! Abnormality of the pons
created_by: peter
creation_date: 2012-09-10T05:35:36Z

[Term]
id: HP:0012111
name: Abnormality of circulating glucocorticoid level
def: "An abnormality of the concentration of a glucocorticoid in the blood." [HPO:probinson]
xref: UMLS:C4023038
is_a: HP:0003117 ! Abnormal circulating hormone level
created_by: hecht
creation_date: 2012-09-16T04:22:26Z

[Term]
id: HP:0012112
name: Abnormal circulating corticosterone level
def: "An abnormality of the concentration of corticosterone in the blood." [HPO:probinson]
synonym: "Abnormality of circulating corticosterone level" EXACT []
xref: UMLS:C4023037
is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level
created_by: hecht
creation_date: 2012-09-16T04:23:55Z

[Term]
id: HP:0012113
name: Abnormal circulating creatine concentration
def: "A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson]
synonym: "Abnormality of creatine metabolism" EXACT layperson []
synonym: "Creatine metabolism abnormal" RELATED layperson []
xref: UMLS:C4020731
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
created_by: hecht
creation_date: 2012-09-16T04:29:41Z

[Term]
id: HP:0012114
name: Endometrial carcinoma
def: "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson, NCIT:C7558]
xref: MSH:D016889
xref: SNOMEDCT_US:254878006
xref: UMLS:C0476089
is_a: HP:0010784 ! Uterine neoplasm
is_a: HP:0030126 ! Abnormality of the endometrium
created_by: hecht
creation_date: 2012-09-16T04:37:32Z

[Term]
id: HP:0012115
name: Hepatitis
def: "Inflammation of the liver." [HPO:probinson]
synonym: "Liver inflammation" EXACT layperson []
xref: MSH:D006505
xref: SNOMEDCT_US:128241005
xref: UMLS:C0019158
is_a: HP:0012649 ! Increased inflammatory response
is_a: HP:0410042 ! Abnormal liver morphology
created_by: hecht
creation_date: 2012-09-16T05:03:29Z

[Term]
id: HP:0012116
name: Abnormal albumin level
def: "Deviation from normal concentration of albumin in the blood." [HPO:probinson]
synonym: "Abnormal albumin level" EXACT layperson []
xref: UMLS:C4023036
is_a: HP:0010876 ! Abnormal circulating protein level
created_by: hecht
creation_date: 2012-09-16T05:14:53Z

[Term]
id: HP:0012117
name: Hyperalbuminemia
def: "Elevation in the concentration of albumin in the blood." [HPO:probinson]
synonym: "High albumin" BROAD layperson []
synonym: "High blood albumin levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hyperalbuminaemia" EXACT []
xref: SNOMEDCT_US:119248009
xref: UMLS:C1142113
is_a: HP:0012116 ! Abnormal albumin level
created_by: hecht
creation_date: 2012-09-16T05:15:41Z

[Term]
id: HP:0012118
name: Laryngeal carcinoma
def: "A carcinoma of the larynx." [HPO:probinson, NCIT:C4855]
comment: Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms.
synonym: "Cancer of the larynx" EXACT []
synonym: "Laryngeal cancer" EXACT []
xref: SNOMEDCT_US:276975007
xref: UMLS:C0595989
is_a: HP:0100605 ! Neoplasm of the larynx
created_by: hecht
creation_date: 2012-09-16T05:28:05Z

[Term]
id: HP:0012119
name: Methemoglobinemia
def: "Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues." [HPO:probinson]
xref: MSH:D008708
xref: SNOMEDCT_US:131171006
xref: SNOMEDCT_US:38959009
xref: UMLS:C0025637
is_a: HP:0011902 ! Abnormal hemoglobin
created_by: hecht
creation_date: 2012-09-16T05:42:35Z

[Term]
id: HP:0012120
name: Methylmalonic aciduria
def: "Increased concentration of methylmalonic acid in the urine." [HPO:probinson]
comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
synonym: "High blood methylmalonic acid levels" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Methymalonicaciduria" EXACT []
xref: MSH:C537358
xref: UMLS:C1855119
is_a: HP:0003215 ! Dicarboxylic aciduria
created_by: hecht
creation_date: 2012-09-16T06:02:23Z

[Term]
id: HP:0012121
name: Panuveitis
def: "Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid." [HPO:probinson]
xref: MSH:D015864
xref: SNOMEDCT_US:75614007
xref: UMLS:C0030343
is_a: HP:0000554 ! Uveitis
created_by: hecht
creation_date: 2012-09-16T06:23:34Z

[Term]
id: HP:0012122
name: Anterior uveitis
def: "Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber." [HPO:probinson]
xref: SNOMEDCT_US:4927003
xref: UMLS:C0701807
is_a: HP:0000554 ! Uveitis
created_by: hecht
creation_date: 2012-09-16T06:24:32Z

[Term]
id: HP:0012123
name: Posterior uveitis
def: "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [HPO:probinson]
synonym: "Choroiditis" EXACT [ORCID:0000-0001-5208-3432]
xref: MSH:D002833
xref: MSH:D015866
xref: SNOMEDCT_US:16553002
xref: SNOMEDCT_US:43363007
xref: UMLS:C0008526
xref: UMLS:C0042167
is_a: HP:0000554 ! Uveitis
created_by: hecht
creation_date: 2012-09-16T06:25:06Z

[Term]
id: HP:0012124
name: Intermediate uveitis
def: "Inflammation of the uveal tract in which the primary site of inflammation is the vitreous." [HPO:probinson]
xref: MSH:D015867
xref: SNOMEDCT_US:314429009
xref: UMLS:C0042166
is_a: HP:0000554 ! Uveitis
created_by: hecht
creation_date: 2012-09-16T06:25:53Z

[Term]
id: HP:0012125
name: Prostate cancer
def: "A cancer of the prostate." [HPO:probinson]
synonym: "Prostatic cancer" EXACT []
xref: MSH:D011471
xref: SNOMEDCT_US:399068003
xref: UMLS:C0376358
is_a: HP:0100787 ! Prostate neoplasm
created_by: hecht
creation_date: 2012-09-16T06:33:32Z

[Term]
id: HP:0012126
name: Stomach cancer
def: "A cancer arising in any part of the stomach." [HPO:probinson]
synonym: "Gastric cancer" EXACT []
xref: SNOMEDCT_US:372143007
xref: UMLS:C0699791
is_a: HP:0006753 ! Neoplasm of the stomach
created_by: hecht
creation_date: 2012-09-16T06:45:29Z

[Term]
id: HP:0012127
name: Uraciluria
def: "Increased concentration of uracil in the urine." [HPO:probinson]
synonym: "High urine uracil levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021833
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: hecht
creation_date: 2012-09-16T06:53:53Z

[Term]
id: HP:0012128
name: Basal ganglia necrosis
def: "Death of cells in the basal ganglia." [HPO:probinson]
xref: UMLS:C4023035
is_a: HP:0002134 ! Abnormality of the basal ganglia
created_by: hecht
creation_date: 2012-09-16T07:00:22Z

[Term]
id: HP:0012129
name: Abnormality of bone marrow stromal cells
xref: UMLS:C4023034
is_a: HP:0005561 ! Abnormality of bone marrow cell morphology
created_by: peter
creation_date: 2012-09-16T07:13:26Z

[Term]
id: HP:0012130
name: Abnormal erythroid lineage cell morphology
def: "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes." [DDD:akelly]
synonym: "Abnormality of cells of the erythroid lineage" EXACT []
xref: UMLS:C4020862
is_a: HP:0020047 ! Abnormal myeloid cell morphology
created_by: peter
creation_date: 2012-09-16T07:14:03Z

[Term]
id: HP:0012131
name: Abnormal number of erythroid precursors
def: "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly]
xref: UMLS:C4023033
is_a: HP:0001877 ! Abnormal erythrocyte morphology
created_by: peter
creation_date: 2012-09-16T07:17:18Z

[Term]
id: HP:0012132
name: Erythroid hyperplasia
def: "Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly]
synonym: "Bone marrow biopsy shows erythroid hyperplasia" RELATED [HPO:skoehler]
synonym: "Bone marrow smear shows erythroid hyperplasia" RELATED [HPO:skoehler]
xref: UMLS:C0014800
xref: UMLS:C1838111
xref: UMLS:C3552917
is_a: HP:0012131 ! Abnormal number of erythroid precursors
created_by: peter
creation_date: 2012-09-16T07:19:21Z

[Term]
id: HP:0012133
name: Erythroid hypoplasia
def: "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly]
synonym: "Erythroblastopenia" EXACT []
synonym: "Erythroid hypoplasia in the bone marrow" RELATED [HPO:skoehler]
xref: MSH:D000741
xref: SNOMEDCT_US:167923006
xref: SNOMEDCT_US:41614006
xref: UMLS:C0178416
xref: UMLS:C0542035
is_a: HP:0012131 ! Abnormal number of erythroid precursors
created_by: peter
creation_date: 2012-09-16T07:21:19Z

[Term]
id: HP:0012134
name: Dysplastic erythropoesis
xref: UMLS:C4023032
is_a: HP:0001877 ! Abnormal erythrocyte morphology
created_by: peter
creation_date: 2012-09-16T08:01:11Z

[Term]
id: HP:0012135
name: Abnormal granulocytopoietic cell morphology
def: "An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell." [DDD:akelly]
synonym: "Abnormality of cells of the granulocytic lineage" EXACT []
xref: UMLS:C4023031
is_a: HP:0005561 ! Abnormality of bone marrow cell morphology
created_by: peter
creation_date: 2012-09-16T08:02:11Z

[Term]
id: HP:0012136
name: Dysplastic granulopoesis
xref: UMLS:C4023030
is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology
created_by: peter
creation_date: 2012-09-16T08:05:13Z

[Term]
id: HP:0012137
name: Abnormal number of granulocyte precursors
xref: UMLS:C4023029
is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology
created_by: peter
creation_date: 2012-09-16T08:09:13Z

[Term]
id: HP:0012138
name: Granulocytic hyperplasia
xref: UMLS:C4023028
is_a: HP:0012137 ! Abnormal number of granulocyte precursors
created_by: peter
creation_date: 2012-09-16T08:09:36Z

[Term]
id: HP:0012139
name: Granulocytic hypoplasia
def: "Decreased number of granulocyte precursors in the bone marrow." [HPO:akelly]
xref: SNOMEDCT_US:416627004
xref: UMLS:C1534864
is_a: HP:0012137 ! Abnormal number of granulocyte precursors
created_by: peter
creation_date: 2012-09-16T08:09:56Z

[Term]
id: HP:0012140
name: obsolete Abnormality of cells of the lymphoid lineage
is_obsolete: true
replaced_by: HP:0004332

[Term]
id: HP:0012142
name: Pancreatic squamous cell carcinoma
def: "A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium." [HPO:probinson, pmid:19079631]
synonym: "Squamous cell carcinoma of the pancreas" EXACT []
xref: UMLS:C2675993
is_a: HP:0002894 ! Neoplasm of the pancreas
created_by: peter
creation_date: 2012-09-16T08:55:24Z

[Term]
id: HP:0012143
name: Abnormal megakaryocyte morphology
def: "Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells." []
synonym: "Abnormality of cells of the megakaryocyte lineage" EXACT []
xref: UMLS:C4023026
is_a: HP:0005561 ! Abnormality of bone marrow cell morphology
created_by: peter
creation_date: 2012-09-16T08:20:38Z

[Term]
id: HP:0012144
name: Abnormality monocyte morphology
def: "Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." []
xref: UMLS:C4023025
is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology
created_by: peter
creation_date: 2012-09-16T08:21:37Z

[Term]
id: HP:0012145
name: Abnormality of multiple cell lineages in the bone marrow
xref: UMLS:C4023024
is_a: HP:0005561 ! Abnormality of bone marrow cell morphology
created_by: peter
creation_date: 2012-09-16T08:21:57Z

[Term]
id: HP:0012146
name: Abnormality of von Willebrand factor
def: "Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [DDD:akelly]
xref: UMLS:C4023023
is_a: HP:0003256 ! Abnormality of the coagulation cascade
created_by: peter
creation_date: 2012-09-16T08:25:58Z

[Term]
id: HP:0012147
name: Reduced quantity of Von Willebrand factor
def: "Decreased quantity of von Willebrand factor." [DDD:akelly]
synonym: "Decreased von Willebrand factor" RELATED []
xref: UMLS:C1841816
xref: UMLS:C4023022
is_a: HP:0012146 ! Abnormality of von Willebrand factor
created_by: peter
creation_date: 2012-09-16T08:27:00Z

[Term]
id: HP:0012148
name: Multiple lineage myelodysplasia
def: "Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [DDD:akelly]
xref: UMLS:C4023021
is_a: HP:0002863 ! Myelodysplasia
created_by: peter
creation_date: 2012-09-16T08:33:33Z

[Term]
id: HP:0012149
name: Bilineage myelodysplasia
def: "Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [DDD:akelly]
xref: UMLS:C4023020
is_a: HP:0002863 ! Myelodysplasia
created_by: peter
creation_date: 2012-09-16T08:39:10Z

[Term]
id: HP:0012150
name: Single lineage myelodysplasia
def: "Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic)." [DDD:akelly]
xref: UMLS:C4023019
is_a: HP:0002863 ! Myelodysplasia
created_by: peter
creation_date: 2012-09-16T08:39:39Z

[Term]
id: HP:0012151
name: Hemothorax
def: "The presence of blood in the pleural space." [HPO:probinson]
comment: Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels.
xref: MSH:D006491
xref: SNOMEDCT_US:31892009
xref: UMLS:C0019123
is_a: HP:0002103 ! Abnormality of the pleura
created_by: peter
creation_date: 2012-09-16T08:58:32Z

[Term]
id: HP:0012152
name: Foveoschisis
def: "Splitting of the retinal layers in the macula." [HPO:probinson]
synonym: "Retinoschisis involving the fovea" EXACT []
xref: UMLS:C2674407
is_a: HP:0000493 ! Abnormal foveal morphology
is_a: HP:0030502 ! Retinoschisis
created_by: peter
creation_date: 2012-09-16T09:06:26Z

[Term]
id: HP:0012153
name: Hypotriglyceridemia
def: "An decrease in the level of triglycerides in the blood." [HPO:probinson]
synonym: "Decreased circulating Tg levels" EXACT HP:0045077 []
synonym: "Decreased plasma Tg levels" EXACT HP:0045077 []
synonym: "Low blood triglyceride levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0542037
is_a: HP:0045014 ! Hypolipidemia
created_by: peter
creation_date: 2012-09-20T06:39:11Z

[Term]
id: HP:0012154
name: Anhedonia
def: "Inability to experience pleasure activities usually found enjoyable." [HPO:probinson]
xref: MSH:D059445
xref: SNOMEDCT_US:247796005
xref: SNOMEDCT_US:28669007
xref: UMLS:C0178417
is_a: HP:0031466 ! Impairment in personality functioning
created_by: peter
creation_date: 2012-09-20T06:51:36Z

[Term]
id: HP:0012155
name: Decreased corneal sensation
def: "Reduced ability of the cornea to respond to stimulation." [HPO:probinson]
comment: Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma.
synonym: "Corneal hypaesthesia" EXACT []
synonym: "Corneal hypesthesia" EXACT []
synonym: "Decreased corneal sensitivity" RELATED []
synonym: "Reduced corneal sensation" EXACT []
xref: SNOMEDCT_US:373433005
xref: UMLS:C0271292
xref: UMLS:C0859996
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: hecht
creation_date: 2013-01-04T08:36:10Z

[Term]
id: HP:0012156
name: Hemophagocytosis
def: "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson]
comment: Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process).
xref: SNOMEDCT_US:61070002
xref: UMLS:C0876991
is_a: HP:0004311 ! Abnormal macrophage morphology
created_by: peter
creation_date: 2013-01-07T10:11:21Z

[Term]
id: HP:0012157
name: Subcortical cerebral atrophy
def: "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998]
xref: UMLS:C4023018
is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum
created_by: peter
creation_date: 2013-01-20T11:22:50Z

[Term]
id: HP:0012158
name: Carotid artery dissection
def: "A separation (dissection) of the layers of the carotid artery wall." [HPO:probinson]
xref: UMLS:C0338585
is_a: HP:0005344 ! Abnormal carotid artery morphology
created_by: peter
creation_date: 2013-02-16T07:19:57Z

[Term]
id: HP:0012159
name: Internal carotid artery dissection
def: "A separation (dissection) of the layers of the internal carotid artery wall." [HPO:probinson]
comment: The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation.
xref: MSH:D020215
xref: SNOMEDCT_US:705066004
xref: UMLS:C0751815
is_a: HP:0012158 ! Carotid artery dissection
created_by: peter
creation_date: 2013-02-16T07:22:28Z

[Term]
id: HP:0012160
name: Intracranial internal carotid artery dissection
def: "A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall." [HPO:probinson]
xref: UMLS:C4023017
is_a: HP:0012159 ! Internal carotid artery dissection
created_by: peter
creation_date: 2013-02-16T07:31:51Z

[Term]
id: HP:0012161
name: External carotid artery dissection
def: "A separation (dissection) of the layers of the external carotid artery wall." [HPO:probinson]
xref: UMLS:C4023016
is_a: HP:0012158 ! Carotid artery dissection
created_by: peter
creation_date: 2013-02-16T07:33:34Z

[Term]
id: HP:0012162
name: Common carotid artery dissection
def: "A separation (dissection) of the layers of the common carotid artery wall." [HPO:probinson]
xref: UMLS:C4023015
is_a: HP:0012158 ! Carotid artery dissection
created_by: peter
creation_date: 2013-02-16T07:34:14Z

[Term]
id: HP:0012163
name: Carotid artery dilatation
def: "A dilatation (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson]
synonym: "Carotid artery aneurysm" NARROW []
xref: SNOMEDCT_US:233988005
xref: UMLS:C0340639
is_a: HP:0005344 ! Abnormal carotid artery morphology
created_by: peter
creation_date: 2013-02-16T10:18:06Z

[Term]
id: HP:0012164
name: Asterixis
def: "A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints." [HPO:probinson]
comment: The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture.
xref: MSH:D020820
xref: SNOMEDCT_US:32838008
xref: UMLS:C0232766
is_a: HP:0100022 ! Abnormality of movement
created_by: peter
creation_date: 2013-02-16T10:20:08Z

[Term]
id: HP:0012165
name: Oligodactyly
def: "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson]
xref: UMLS:C3887496
is_a: HP:0011297 ! Abnormal digit morphology
created_by: peter
creation_date: 2013-02-16T10:44:40Z

[Term]
id: HP:0012166
name: Skin-picking
def: "Repetitive and compulsive picking of skin which results in tissue damage." [HPO:probinson, pmid:20575652]
synonym: "Compulsive skin picking" EXACT []
synonym: "Dermatillomania" EXACT []
xref: ICD-10:F63.3 "Trichotillomania"
xref: UMLS:C1696701
is_a: HP:0100716 ! Self-injurious behavior
created_by: peter
creation_date: 2013-02-20T07:12:33Z

[Term]
id: HP:0012167
name: Hair-pulling
def: "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss." [HPO:probinson]
synonym: "Trichotillomania" EXACT []
xref: MSH:D014256
xref: SNOMEDCT_US:17155009
xref: UMLS:C0040953
is_a: HP:0100716 ! Self-injurious behavior
created_by: peter
creation_date: 2013-02-20T07:16:10Z

[Term]
id: HP:0012168
name: Head-banging
def: "Habitual striking of one's own head against a surface such as a mattress or wall of a crib." [HPO:probinson]
synonym: "Head-banging" EXACT layperson []
xref: MSH:D019956
xref: SNOMEDCT_US:43954004
xref: UMLS:C0018672
is_a: HP:0100716 ! Self-injurious behavior
created_by: peter
creation_date: 2013-02-20T09:33:57Z

[Term]
id: HP:0012169
name: Self-biting
def: "Habitual biting of one's own body." [HPO:probinson]
comment: Biting of one's own arms, lip, check, finger etc.
xref: SNOMEDCT_US:248072009
xref: UMLS:C0424375
is_a: HP:0100716 ! Self-injurious behavior
created_by: peter
creation_date: 2013-02-20T09:36:42Z

[Term]
id: HP:0012170
name: Nail-biting
def: "Habitual biting of one's own fingernails." [HPO:probinson]
synonym: "Nail-biting" EXACT layperson []
synonym: "Onychophagia" EXACT []
synonym: "Onychophagy" EXACT []
xref: ICD-10:F98.8
xref: MSH:D009259
xref: SNOMEDCT_US:37298006
xref: UMLS:C0027338
is_a: HP:0012169 ! Self-biting
created_by: peter
creation_date: 2013-02-20T09:40:31Z

[Term]
id: HP:0012171
name: Stereotypical hand wringing
def: "Habitual clasping and squeezing of the hands." [HPO:probinson]
xref: UMLS:C4023014
is_a: HP:0000733 ! Stereotypy
created_by: peter
creation_date: 2013-02-20T09:44:45Z

[Term]
id: HP:0012172
name: Stereotypical body rocking
def: "Habitual repetitive movement of the body." [HPO:probinson]
xref: UMLS:C4023013
is_a: HP:0000733 ! Stereotypy
created_by: peter
creation_date: 2013-02-20T10:17:35Z

[Term]
id: HP:0012173
name: Orthostatic tachycardia
def: "An increase in heart rate with standing of 30 beats per minute or more." [HPO:probinson, pmid:9244228]
synonym: "Postural tachycardia" EXACT []
xref: UMLS:C4021099
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology
created_by: peter
creation_date: 2013-02-23T09:42:20Z

[Term]
id: HP:0012174
name: Glioblastoma multiforme
alt_id: HP:0100843
def: "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [HPO:probinson, NCIT:C3058, pmid:10841526]
synonym: "Glioblastoma" EXACT []
xref: MSH:D005909
xref: SNOMEDCT_US:393563007
xref: SNOMEDCT_US:63634009
xref: UMLS:C1621958
is_a: HP:0009733 ! Glioma
created_by: peter
creation_date: 2013-02-23T09:47:02Z

[Term]
id: HP:0012175
name: Resistance to activated protein C
def: "Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay." [HPO:probinson, pmid:14976057]
comment: The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay.
synonym: "Activated protein C resistance" EXACT []
xref: MSH:D020016
xref: SNOMEDCT_US:421527008
xref: UMLS:C0600433
is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway
created_by: peter
creation_date: 2013-02-23T09:54:07Z

[Term]
id: HP:0012176
name: Abnormal natural killer cell morphology
def: "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells." [HPO:probinson, pmid:21212348]
synonym: "Abnormal NK cells" EXACT [HPO:skoehler]
synonym: "Abnormality of natural killer cells" EXACT []
xref: UMLS:C4021098
is_a: HP:0004332 ! Abnormal lymphocyte morphology
created_by: peter
creation_date: 2013-02-23T10:02:16Z

[Term]
id: HP:0012177
name: Abnormal natural killer cell physiology
def: "A functional anomaly of the natural killer cell." [HPO:probinson]
xref: UMLS:C4023012
is_a: HP:0031409 ! Abnormal lymphocyte physiology
created_by: peter
creation_date: 2013-02-23T10:03:37Z

[Term]
id: HP:0012178
name: Reduced natural killer cell activity
def: "Reduced ability of the natural killer cell to function in the adaptive immune response." [HPO:probinson]
xref: UMLS:C1839969
is_a: HP:0012177 ! Abnormal natural killer cell physiology
created_by: peter
creation_date: 2013-02-23T10:05:33Z

[Term]
id: HP:0012179
name: Craniofacial dystonia
def: "A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia." [HPO:probinson]
synonym: "Abnormal craniofacial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal craniofacial posture" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal facial muscle tone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Distorted craniofacial posture" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Facial Dystonia" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C1851915
xref: UMLS:C4023011
xref: UMLS:C4072883
is_a: HP:0004373 ! Focal dystonia
created_by: peter
creation_date: 2013-02-23T10:10:32Z

[Term]
id: HP:0012180
name: Cystic medial necrosis
alt_id: HP:0200145
def: "A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells." [HPO:probinson]
comment: The lesions of cystic medial necrosis are not true cysts.
synonym: "Arterial cystic medial necrosis" EXACT []
xref: MSH:C536230
xref: SNOMEDCT_US:234021009
xref: SNOMEDCT_US:42182000
xref: SNOMEDCT_US:45894003
xref: UMLS:C0392775
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: peter
creation_date: 2013-02-23T10:17:16Z

[Term]
id: HP:0012181
name: Entrapment neuropathy
def: "Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss." [HPO:probinson]
comment: An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical contriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band.
xref: MSH:D009408
xref: SNOMEDCT_US:45781009
xref: UMLS:C1510429
is_a: HP:0009830 ! Peripheral neuropathy
created_by: peter
creation_date: 2013-02-23T10:20:59Z

[Term]
id: HP:0012182
name: Oropharyngeal squamous cell carcinoma
def: "A squamous cell carcinoma that originates in the oropharnyx." [HPO:probinson]
xref: SNOMEDCT_US:423464009
xref: SNOMEDCT_US:707585008
xref: UMLS:C0280313
is_a: HP:0002860 ! Squamous cell carcinoma
created_by: peter
creation_date: 2013-02-23T10:28:31Z

[Term]
id: HP:0012183
name: Hyperplastic colonic polyposis
def: "Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation." [HPO:probinson]
xref: UMLS:C4023010
is_a: HP:0030255 ! Large intestinal polyposis
created_by: peter
creation_date: 2013-02-24T09:08:55Z

[Term]
id: HP:0012184
name: Increased HDL cholesterol concentration
def: "An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood." [HPO:probinson]
comment: The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II.
synonym: "High blood HDL level" EXACT layperson []
synonym: "Hyperalphalipoproteinemia" EXACT []
synonym: "Increased circulating high-density lipoprotein levels" EXACT []
xref: MSH:C564591
xref: SNOMEDCT_US:238080004
xref: UMLS:C0342883
is_a: HP:0010980 ! Hyperlipoproteinemia
is_a: HP:0031888 ! Abnormal HDL cholesterol concentration
created_by: peter
creation_date: 2013-02-24T09:14:45Z

[Term]
id: HP:0012185
name: Constrictive median neuropathy
def: "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [HPO:probinson]
comment: Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome.
synonym: "Carpal tunnel syndrome" RELATED []
xref: UMLS:C4023009
is_a: HP:0012181 ! Entrapment neuropathy
created_by: peter
creation_date: 2013-02-24T09:24:32Z

[Term]
id: HP:0012186
name: Entrapment neuropathy of the ulnar nerve at elbow
def: "An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand." [HPO:probinson]
xref: UMLS:C4023008
is_a: HP:0012181 ! Entrapment neuropathy
created_by: peter
creation_date: 2013-02-24T09:27:57Z

[Term]
id: HP:0012187
name: Increased erythrocyte protoporphyrin concentration
def: "An increased concentration of protoporphyrins in erythrocytes." [HPO:probinson, pmid:18760763]
xref: UMLS:C4023007
is_a: HP:0010472 ! Abnormal circulating porphyrin concentration
created_by: peter
creation_date: 2013-02-24T09:49:59Z

[Term]
id: HP:0012188
name: Hyperemesis gravidarum
def: "Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight." [HPO:probinson, OMIM:603373]
xref: MSH:D006939
xref: SNOMEDCT_US:14094001
xref: UMLS:C0020450
is_a: HP:0002686 ! Prenatal maternal abnormality
created_by: peter
creation_date: 2013-02-24T09:58:18Z

[Term]
id: HP:0012189
name: Hodgkin lymphoma
def: "A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells." [HPO:probinson]
synonym: "Hodgkin disease" EXACT []
synonym: "Hodgkin's lymphoma" EXACT []
xref: MSH:D006689
xref: SNOMEDCT_US:118599009
xref: SNOMEDCT_US:118602004
xref: SNOMEDCT_US:118605002
xref: SNOMEDCT_US:118606001
xref: SNOMEDCT_US:14537002
xref: SNOMEDCT_US:46923007
xref: SNOMEDCT_US:70600005
xref: SNOMEDCT_US:74189002
xref: UMLS:C0019829
is_a: HP:0002665 ! Lymphoma
created_by: peter
creation_date: 2013-02-27T06:53:11Z

[Term]
id: HP:0012190
name: T-cell lymphoma
def: "A type of lymphoma that originates in T-cells." [HPO:probinson]
synonym: "T cell lymphoma" EXACT []
xref: MSH:D016399
xref: SNOMEDCT_US:109978004
xref: SNOMEDCT_US:3172003
xref: UMLS:C0079772
is_a: HP:0012539 ! Non-Hodgkin lymphoma
created_by: peter
creation_date: 2013-02-27T06:56:11Z

[Term]
id: HP:0012191
name: B-cell lymphoma
def: "A type of lymphoma that originates in B-cells." [HPO:probinson]
synonym: "B cell lymphoma" EXACT []
xref: MSH:D016393
xref: SNOMEDCT_US:109979007
xref: SNOMEDCT_US:1929004
xref: SNOMEDCT_US:413616009
xref: UMLS:C0079731
is_a: HP:0012539 ! Non-Hodgkin lymphoma
created_by: peter
creation_date: 2013-02-27T06:59:05Z

[Term]
id: HP:0012192
name: Cutaneous T-cell lymphoma
def: "A type of T-cell lymphoma that exhibits malignant infiltration of the skin." [HPO:probinson]
xref: MSH:D016410
xref: SNOMEDCT_US:28054005
xref: SNOMEDCT_US:400122007
xref: UMLS:C0079773
is_a: HP:0012190 ! T-cell lymphoma
created_by: peter
creation_date: 2013-02-27T07:03:19Z

[Term]
id: HP:0012193
name: Anaplastic large-cell lymphoma
def: "A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei." [HPO:probinson]
xref: MSH:D017728
xref: SNOMEDCT_US:277637000
xref: SNOMEDCT_US:53237008
xref: UMLS:C0206180
is_a: HP:0012190 ! T-cell lymphoma
created_by: peter
creation_date: 2013-02-27T07:15:32Z

[Term]
id: HP:0012194
name: Episodic hemiplegia
def: "Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body." [HPO:probinson]
xref: UMLS:C1863061
is_a: HP:0002301 ! Hemiplegia
created_by: peter
creation_date: 2013-02-27T07:26:26Z

[Term]
id: HP:0012195
name: Irregular respiration
def: "Uneven rhythm of breathing." [HPO:probinson]
synonym: "Irregular respiratory rhythm" EXACT []
xref: SNOMEDCT_US:248585001
xref: UMLS:C0425492
is_a: HP:0002793 ! Abnormal pattern of respiration
created_by: peter
creation_date: 2013-03-11T05:10:57Z

[Term]
id: HP:0012196
name: Cheyne-Stokes respiration
def: "An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes." [HPO:probinson]
synonym: "Periodic respiration" EXACT []
xref: MSH:D002639
xref: SNOMEDCT_US:271824009
xref: SNOMEDCT_US:309155007
xref: UMLS:C0008039
xref: UMLS:C1313952
is_a: HP:0002793 ! Abnormal pattern of respiration
created_by: peter
creation_date: 2013-03-11T07:00:56Z

[Term]
id: HP:0012197
name: Insulinoma
def: "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [HPO:probinson, NCIT:C95598]
synonym: "Pancreatic insulinoma" EXACT []
xref: MSH:D007340
xref: SNOMEDCT_US:25324008
xref: SNOMEDCT_US:302822000
xref: UMLS:C0021670
is_a: HP:0008261 ! Pancreatic islet cell adenoma
created_by: peter
creation_date: 2013-03-11T07:06:29Z

[Term]
id: HP:0012198
name: Juvenile colonic polyposis
def: "The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands." [HPO:probinson, pmid:17768394, pmid:25022750]
comment: A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells.
xref: UMLS:C4023006
is_a: HP:0004390 ! Hamartomatous polyposis
is_a: HP:0030255 ! Large intestinal polyposis
created_by: peter
creation_date: 2013-03-11T07:09:42Z

[Term]
id: HP:0012199
name: Cluster headache
def: "A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs." [HPO:probinson, pmid:21912573]
comment: According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D:\nB) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated.\nC) Headache is accompanied by at least 1 of the following:\n(i) Ipsilateral conjunctival injection and/or lacrimation.\n(ii) Ipsilateral nasal congestion and/or rhinorrhea.\n(iii) Ipsilateral eyelid edema.\n(iv) Ipsilateral forehead and facial sweating.\n(v) Ipsilateral miosis and/or ptosis.\n(vi) A sense of restlessness or agitation.\nD) Attacks have a frequency from 1 every other day to 8/day.\nAdditionally, the headaches cannot attributed to another disorder.
xref: ICD-10:G44.0 "Cluster headache syndrome"
xref: MSH:D003027
xref: SNOMEDCT_US:193031009
xref: SNOMEDCT_US:193947008
xref: SNOMEDCT_US:230473009
xref: UMLS:C0009088
is_a: HP:0002315 ! Headache
created_by: peter
creation_date: 2013-03-12T11:37:40Z

[Term]
id: HP:0012200
name: Abnormality of prothrombin
def: "An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade." [HPO:probinson]
xref: UMLS:C4023005
is_a: HP:0003256 ! Abnormality of the coagulation cascade
created_by: peter
creation_date: 2013-03-12T11:48:06Z

[Term]
id: HP:0012201
name: obsolete Reduced prothrombin activity
is_obsolete: true
replaced_by: HP:0008151

[Term]
id: HP:0012202
name: Increased serum bile acid concentration
def: "An increase in the concentration of bile acid in the blood." [HPO:probinson]
xref: UMLS:C4023004
is_a: HP:0030984 ! Abnormal serum bile acid concentration
created_by: peter
creation_date: 2013-03-12T11:56:40Z

[Term]
id: HP:0012203
name: Onychomycosis
def: "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson]
xref: MSH:D014009
xref: SNOMEDCT_US:414941008
xref: UMLS:C0040261
is_a: HP:0002841 ! Recurrent fungal infections
created_by: peter
creation_date: 2013-03-12T12:08:30Z

[Term]
id: HP:0012204
name: Recurrent vulvovaginal candidiasis
def: "Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida." [HPO:probinson]
xref: UMLS:C4023003
is_a: HP:0002728 ! Chronic mucocutaneous candidiasis
created_by: peter
creation_date: 2013-03-12T12:09:45Z

[Term]
id: HP:0012205
name: Globozoospermia
def: "Any structural anomaly of the acrosome resulting in a round sperm head." [HPO:probinson, MP:0002686]
xref: MSH:D000072660
xref: SNOMEDCT_US:236818008
xref: UMLS:C0403825
is_a: HP:0012865 ! Sperm head anomaly
created_by: peter
creation_date: 2013-03-12T12:21:08Z

[Term]
id: HP:0012206
name: Abnormal sperm motility
def: "An anomaly of the mobility of ejaculated sperm." [HPO:probinson]
synonym: "Abnormal sperm motility" EXACT layperson []
xref: UMLS:C0855512
is_a: HP:0000025 ! Functional abnormality of male internal genitalia
created_by: peter
creation_date: 2013-03-12T12:23:21Z

[Term]
id: HP:0012207
name: Reduced sperm motility
def: "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson]
synonym: "Asthenospermia" EXACT []
synonym: "Reduced sperm motility" EXACT layperson []
xref: UMLS:C4023002
is_a: HP:0012206 ! Abnormal sperm motility
created_by: peter
creation_date: 2013-03-12T12:23:59Z

[Term]
id: HP:0012208
name: Nonmotile sperm
def: "A lack of mobility of ejaculated sperm." [HPO:probinson]
xref: UMLS:C4023001
is_a: HP:0012206 ! Abnormal sperm motility
created_by: peter
creation_date: 2013-03-12T12:24:28Z

[Term]
id: HP:0012209
name: Juvenile myelomonocytic leukemia
def: "Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor." [HPO:probinson, pmid:18954903]
xref: MSH:D054429
xref: SNOMEDCT_US:128832006
xref: SNOMEDCT_US:277587001
xref: SNOMEDCT_US:445227008
xref: UMLS:C0349639
is_a: HP:0012324 ! Myeloid leukemia
created_by: peter
creation_date: 2013-03-12T12:27:41Z

[Term]
id: HP:0012210
name: Abnormal renal morphology
alt_id: HP:0000792
alt_id: HP:0004726
alt_id: HP:0004735
alt_id: HP:0008712
def: "Any structural anomaly of the kidney." [HPO:probinson]
synonym: "Abnormal kidney morphology" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormally shaped kidney" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Kidney malformation" EXACT layperson []
synonym: "Kidney structure issue" EXACT layperson []
synonym: "Renal malformation" EXACT []
synonym: "Structural anomalies of the renal tract" EXACT []
synonym: "Structural kidney abnormalities" EXACT layperson []
synonym: "Structural renal anomalies" EXACT []
xref: Fyler:4512
xref: SNOMEDCT_US:44513007
xref: UMLS:C0266292
is_a: HP:0000077 ! Abnormality of the kidney
created_by: peter
creation_date: 2013-03-14T07:41:11Z

[Term]
id: HP:0012211
name: Abnormal renal physiology
alt_id: HP:0000082
alt_id: HP:0000087
alt_id: HP:0005566
alt_id: HP:0008646
def: "An abnormal functionality of the kidney." [HPO:probinson]
synonym: "Abnormal kidney function" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal renal function" EXACT [HPO:skoehler]
synonym: "Abnormality of renal physiology" EXACT []
synonym: "Kidney function issue" EXACT layperson []
synonym: "Renal functional abnormality" EXACT []
xref: SNOMEDCT_US:39539005
xref: UMLS:C0151746
is_a: HP:0000077 ! Abnormality of the kidney
is_a: HP:0011277 ! Abnormality of the urinary system physiology
created_by: peter
creation_date: 2013-03-14T07:43:34Z

[Term]
id: HP:0012212
name: Abnormal glomerular filtration rate
def: "An anomaly in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson, MP:0002847]
synonym: "Abnormal GFR" EXACT HP:0045077 []
xref: UMLS:C0854050
is_a: HP:0012211 ! Abnormal renal physiology
created_by: peter
creation_date: 2013-03-14T07:49:53Z

[Term]
id: HP:0012213
name: Decreased glomerular filtration rate
alt_id: HP:0000120
def: "An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson]
comment: Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream.
synonym: "Decreased GFR" EXACT HP:0045077 []
synonym: "Impaired renal creatinine clearance" EXACT []
synonym: "Reduced creatinine clearance" EXACT []
xref: UMLS:C0853068
is_a: HP:0012212 ! Abnormal glomerular filtration rate
created_by: peter
creation_date: 2013-03-14T07:54:30Z

[Term]
id: HP:0012214
name: Increased glomerular filtration rate
def: "An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson]
synonym: "Increased GFR" EXACT HP:0045077 []
xref: UMLS:C0856948
is_a: HP:0012212 ! Abnormal glomerular filtration rate
created_by: peter
creation_date: 2013-03-14T07:55:03Z

[Term]
id: HP:0012215
name: Testicular microlithiasis
def: "The deposition of calcium phosphate microliths within the seminiferous tubules." [HPO:probinson]
xref: MSH:C566478
xref: SNOMEDCT_US:117261000119108
xref: UMLS:C1864873
is_a: HP:0000035 ! Abnormal testis morphology
created_by: peter
creation_date: 2013-03-14T08:07:36Z

[Term]
id: HP:0012216
name: Entrapment neuropathy of suprascapular nerve
def: "An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region." [HPO:probinson]
synonym: "Suprascapular nerve entrapment" EXACT []
xref: SNOMEDCT_US:230635000
xref: UMLS:C0393890
is_a: HP:0012181 ! Entrapment neuropathy
created_by: peter
creation_date: 2013-03-14T08:09:05Z

[Term]
id: HP:0012217
name: Increased urinary porphobilinogen
def: "Increased concentration of porphobilinogen in the urine." [HPO:probinson, pmid:11861450]
comment: Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis.
xref: UMLS:C4023000
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2013-03-30T06:45:01Z

[Term]
id: HP:0012218
name: Alveolar soft part sarcoma
def: "A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue." [HPO:probinson, pmid:11244503]
xref: MSH:D018234
xref: SNOMEDCT_US:404056007
xref: SNOMEDCT_US:88195001
xref: UMLS:C0206657
is_a: HP:0030448 ! Soft tissue sarcoma
created_by: peter
creation_date: 2013-03-30T06:48:50Z

[Term]
id: HP:0012219
name: Erythema nodosum
def: "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [HPO:probinson]
comment: The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy.
xref: MSH:D004893
xref: SNOMEDCT_US:32861005
xref: UMLS:C0014743
is_a: HP:0011123 ! Inflammatory abnormality of the skin
created_by: peter
creation_date: 2013-03-30T06:57:07Z

[Term]
id: HP:0012220
name: Non-caseating epithelioid cell granulomatosis
def: "The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese)." [HPO:probinson]
comment: This feature is a hallmark of sarcoidosis.
xref: UMLS:C4022999
is_a: HP:0002955 ! Granulomatosis
created_by: peter
creation_date: 2013-03-30T07:04:43Z

[Term]
id: HP:0012221
name: Pretibial blistering
def: "A type of blistering that affects the skin of the tibial region." [HPO:probinson, pmid:15265795]
synonym: "Pretibial epidermolysis bullosa" EXACT []
xref: MSH:C535494
xref: SNOMEDCT_US:67653003
xref: UMLS:C0432321
is_a: HP:0011356 ! Regional abnormality of skin
created_by: peter
creation_date: 2013-03-30T07:10:17Z

[Term]
id: HP:0012222
name: Arachnoid hemangiomatosis
def: "The presence of multiple hemangiomas in the arachnoid." [HPO:probinson]
xref: UMLS:C4022998
is_a: HP:0001028 ! Hemangioma
created_by: peter
creation_date: 2013-03-30T07:17:01Z

[Term]
id: HP:0012223
name: Splenic rupture
def: "A breach of the capsule of the spleen." [HPO:probinson]
synonym: "Ruptured spleen" EXACT layperson []
synonym: "Splenic rupture" EXACT layperson []
xref: MSH:D013161
xref: SNOMEDCT_US:234506007
xref: UMLS:C0038000
is_a: HP:0025408 ! Abnormal spleen morphology
created_by: peter
creation_date: 2013-03-30T07:23:49Z

[Term]
id: HP:0012224
name: Circulating immune complexes
def: "Persistence of immune complexes in the blood circulation." [HPO:probinson]
comment: Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions.
xref: UMLS:C3887628
is_a: HP:0005368 ! Abnormality of humoral immunity
created_by: peter
creation_date: 2013-03-30T07:27:21Z

[Term]
id: HP:0012225
name: Oligodontia of primary teeth
def: "Reduced number of primary teeth." [HPO:probinson]
comment: Primary teeth are also called temporary teeth or deciduous teeth.
synonym: "Decreased number of baby teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased number of deciduous teeth" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Decreased number of milk teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased number of primary teeth" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of some deciduous teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of some primary teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Fewer baby teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Fewer deciduous teeth than normal" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Fewer primary teeth than normal" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing some baby teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing some milk teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing some primary teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Partial anodontia of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Partial anodontia of primary teeth" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022997
xref: UMLS:C4280316
is_a: HP:0000677 ! Oligodontia
created_by: peter
creation_date: 2013-03-30T07:31:16Z

[Term]
id: HP:0012226
name: Ovarian teratoma
def: "The presence of a teratoma in the ovary." [HPO:probinson]
xref: NCIT:C3403
xref: SNOMEDCT_US:716077006
xref: UMLS:C0280131
is_a: HP:0009792 ! Teratoma
is_a: HP:0100615 ! Ovarian neoplasm
created_by: peter
creation_date: 2013-03-30T07:34:29Z

[Term]
id: HP:0012227
name: Urethral stricture
def: "Narrowing of the urethra associated with inflammation or scar tissue." [HPO:probinson]
comment: A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661).
xref: MSH:D014525
xref: SNOMEDCT_US:236647003
xref: SNOMEDCT_US:76618002
xref: UMLS:C0041974
is_a: HP:0008661 ! Urethral stenosis
created_by: peter
creation_date: 2013-03-30T07:37:46Z

[Term]
id: HP:0012228
name: Tension-type headache
def: "A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs." [HPO:probinson]
synonym: "Tension-type headache" EXACT layperson []
xref: ICD-10:G44.2 "Tension-type headache"
xref: MSH:D018781
xref: SNOMEDCT_US:398057008
xref: SNOMEDCT_US:66551002
xref: UMLS:C0033893
is_a: HP:0002315 ! Headache
created_by: peter
creation_date: 2013-03-30T07:50:13Z

[Term]
id: HP:0012229
name: CSF pleocytosis
def: "An increased white blood cell count in the cerebrospinal fluid." [HPO:probinson]
synonym: "Cerebrospinal fluid pleocytosis" EXACT []
synonym: "Increased leukocyte count in CSF" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: MSH:D007964
xref: SNOMEDCT_US:91454002
xref: UMLS:C0151857
is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid
created_by: peter
creation_date: 2013-03-31T09:01:55Z

[Term]
id: HP:0012230
name: Rhegmatogenous retinal detachment
def: "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson]
xref: SNOMEDCT_US:19620000
xref: UMLS:C0271055
is_a: HP:0000541 ! Retinal detachment
created_by: peter
creation_date: 2013-03-31T09:20:35Z

[Term]
id: HP:0012231
name: Exudative retinal detachment
def: "A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium." [HPO:probinson, ORCID:0000-0003-0986-4123]
synonym: "Serous retinal detachment" EXACT []
xref: SNOMEDCT_US:38599001
xref: UMLS:C0154822
is_a: HP:0000541 ! Retinal detachment
created_by: peter
creation_date: 2013-03-31T09:24:20Z

[Term]
id: HP:0012232
name: Shortened QT interval
def: "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson]
xref: SNOMEDCT_US:77867006
xref: UMLS:C0151879
is_a: HP:0031547 ! Abnormal QT interval
created_by: peter
creation_date: 2013-03-31T09:34:21Z

[Term]
id: HP:0012233
name: Intramuscular hematoma
def: "Blood clot formed within muscle tissue following leakage of blood into the tissue." [HPO:probinson]
synonym: "IM hematoma" EXACT HP:0045077 []
synonym: "Intramuscular haematoma" EXACT []
synonym: "Intramuscular hematomas" RELATED [HPO:skoehler]
synonym: "Intramuscular hemorrhage" EXACT []
xref: SNOMEDCT_US:262969000
xref: UMLS:C0240412
is_a: HP:0011805 ! Abnormal muscle morphology
created_by: peter
creation_date: 2013-03-31T09:38:57Z

[Term]
id: HP:0012234
name: Agranulocytosis
def: "Marked decrease in the number of granulocytes." [HPO:probinson]
comment: Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter.
xref: UMLS:C0702094
is_a: HP:0001913 ! Granulocytopenia
created_by: peter
creation_date: 2013-03-31T09:42:50Z

[Term]
id: HP:0012235
name: Drug-induced agranulocytosis
def: "A type of agranulocytosis related to ingestion of a specific medication." [HPO:probinson]
xref: SNOMEDCT_US:47318007
xref: UMLS:C0272178
is_a: HP:0012234 ! Agranulocytosis
created_by: peter
creation_date: 2013-03-31T09:44:55Z

[Term]
id: HP:0012236
name: Elevated sweat chloride
def: "An increased concentration of chloride in the sweat." [HPO:probinson]
comment: Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases.
synonym: "Elevated sweat chloride" EXACT layperson []
synonym: "Elevated sweat Cl" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Elevated sweat Cl-" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C1856646
is_a: HP:0040127 ! Abnormal sweat homeostasis
created_by: peter
creation_date: 2013-03-31T09:50:28Z

[Term]
id: HP:0012237
name: Urocanic aciduria
def: "An increased concentration of urocanic acid in the urine." [HPO:probinson]
synonym: "High urine urocanic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C536479
xref: SNOMEDCT_US:60952007
xref: UMLS:C0268514
is_a: HP:0040156 ! Elevated urinary carboxylic acid
created_by: peter
creation_date: 2013-03-31T09:54:48Z

[Term]
id: HP:0012238
name: Increased circulating chylomicron concentration
def: "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [HPO:probinson, MP:0009699]
synonym: "Hyperchylomicronemia" EXACT []
synonym: "Increased chylomicrons" EXACT []
synonym: "Increased circulating chylomicron levels" EXACT []
xref: UMLS:C1535978
is_a: HP:0010980 ! Hyperlipoproteinemia
is_a: HP:0031887 ! Abnormal chylomicron concentration
created_by: peter
creation_date: 2013-03-31T04:17:11Z

[Term]
id: HP:0012239
name: Atransferrinemia
def: "Absence of transferrin, a protein that transports iron, in the blood." [HPO:probinson]
xref: MSH:C538259
xref: SNOMEDCT_US:111571009
xref: UMLS:C0521802
is_a: HP:0032385 ! Abnormal circulating transferrin level
created_by: peter
creation_date: 2013-03-31T04:20:43Z

[Term]
id: HP:0012240
name: Increased intramyocellular lipid droplets
def: "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590]
comment: In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres.
synonym: "Increased muscle lipid droplets" RELATED []
xref: UMLS:C4020730
is_a: HP:0009058 ! Increased muscle lipid content
created_by: peter
creation_date: 2013-04-01T05:17:37Z

[Term]
id: HP:0012241
name: Levator palpebrae superioris atrophy
def: "Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid." [HPO:probinson]
xref: UMLS:C1851107
is_a: HP:0011805 ! Abnormal muscle morphology
is_a: HP:3000072 ! Abnormal levator palpebrae superioris morphology
created_by: peter
creation_date: 2013-04-02T06:53:20Z

[Term]
id: HP:0012242
name: Superior rectus atrophy
def: "Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe." [HPO:probinson]
synonym: "Rectus superior atrophy" EXACT []
xref: UMLS:C1851108
is_a: HP:0008049 ! Abnormality of the extraocular muscles
created_by: peter
creation_date: 2013-04-02T06:55:22Z

[Term]
id: HP:0012243
name: Abnormal reproductive system morphology
def: "A structural or developmental anomaly of any of the tissues involved in the genital system." [HPO:probinson, MP:0002160]
synonym: "Abnormal genital system morphology" EXACT []
xref: UMLS:C4021096
is_a: HP:0000078 ! Abnormality of the genital system
created_by: peter
creation_date: 2013-04-02T07:02:20Z

[Term]
id: HP:0012244
name: Abnormal sex determination
def: "Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210]
xref: UMLS:C4022996
is_a: HP:0012243 ! Abnormal reproductive system morphology
created_by: peter
creation_date: 2013-04-02T07:03:45Z

[Term]
id: HP:0012245
name: Sex reversal
def: "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652]
comment: Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female.
xref: UMLS:C4022995
is_a: HP:0012244 ! Abnormal sex determination
created_by: peter
creation_date: 2013-04-02T07:04:44Z

[Term]
id: HP:0012246
name: Oculomotor nerve palsy
def: "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [HPO:probinson]
synonym: "Oculomotor neuropathy" RELATED []
xref: MSH:D015840
xref: SNOMEDCT_US:388980004
xref: UMLS:C0028866
is_a: HP:0000597 ! Ophthalmoparesis
is_a: HP:0001291 ! Abnormal cranial nerve morphology
created_by: peter
creation_date: 2013-04-02T07:15:18Z

[Term]
id: HP:0012247
name: Specific anosmia
def: "Anosmia for one particular odor." [HPO:probinson]
xref: UMLS:C4022994
is_a: HP:0000458 ! Anosmia
created_by: peter
creation_date: 2013-04-02T07:20:11Z

[Term]
id: HP:0012248
name: Prolonged PR interval
def: "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [HPO:probinson]
comment: In adults, normal values are 120 to 200 ms long.
synonym: "Electrocardiographic long PR interval" EXACT []
synonym: "Lengthened PR interval on EKG" EXACT []
xref: SNOMEDCT_US:164947007
xref: UMLS:C0600125
is_a: HP:0031593 ! Abnormal PR interval
created_by: peter
creation_date: 2013-04-07T08:52:29Z

[Term]
id: HP:0012249
name: Abnormal ST segment
def: "An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment." [HPO:probinson]
xref: UMLS:C4022993
is_a: HP:0003115 ! Abnormal EKG
created_by: peter
creation_date: 2013-04-07T08:56:46Z

[Term]
id: HP:0012250
name: ST segment depression
def: "An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line." [HPO:probinson]
xref: SNOMEDCT_US:26141007
xref: SNOMEDCT_US:429622005
xref: UMLS:C0520887
is_a: HP:0012249 ! Abnormal ST segment
created_by: peter
creation_date: 2013-04-07T08:59:59Z

[Term]
id: HP:0012251
name: ST segment elevation
def: "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson]
comment: ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia.
xref: SNOMEDCT_US:164931005
xref: SNOMEDCT_US:76388001
xref: UMLS:C0520886
is_a: HP:0012249 ! Abnormal ST segment
created_by: peter
creation_date: 2013-04-07T09:03:06Z

[Term]
id: HP:0012252
name: Abnormal respiratory system morphology
def: "A structural anomaly of the respiratory system." [HPO:probinson]
xref: Fyler:4235
xref: UMLS:C4022992
is_a: HP:0002086 ! Abnormality of the respiratory system
created_by: peter
creation_date: 2013-04-07T09:11:09Z

[Term]
id: HP:0012253
name: Abnormal respiratory epithelium morphology
def: "Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi." [HPO:probinson, MP:0010942]
xref: UMLS:C4022991
is_a: HP:0012252 ! Abnormal respiratory system morphology
created_by: peter
creation_date: 2013-04-07T09:12:48Z

[Term]
id: HP:0012254
name: Ewing sarcoma
def: "A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones." [HPO:probinson, pmid:17272319]
comment: Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low.
synonym: "Ewing sarcoma" EXACT []
synonym: "Ewing's sarcoma" EXACT []
xref: MSH:D012512
xref: SNOMEDCT_US:76909002
xref: UMLS:C0553580
is_a: HP:0100242 ! Sarcoma
created_by: peter
creation_date: 2013-04-07T01:54:14Z

[Term]
id: HP:0012255
name: Dynein arm defect of respiratory motile cilia
def: "An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
comment: The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another.
xref: UMLS:C4022990
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
created_by: peter
creation_date: 2013-04-07T09:20:03Z

[Term]
id: HP:0012256
name: Absent outer dynein arms
def: "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
xref: UMLS:C4022989
is_a: HP:0200106 ! Absent/shortened dynein arms
created_by: peter
creation_date: 2013-04-07T09:35:55Z

[Term]
id: HP:0012257
name: Absent inner dynein arms
def: "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
xref: UMLS:C4022988
is_a: HP:0200106 ! Absent/shortened dynein arms
created_by: peter
creation_date: 2013-04-07T09:38:46Z

[Term]
id: HP:0012258
name: Abnormal axonemal organization of respiratory motile cilia
def: "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms." [HPO:probinson, pmid:19606528]
comment: Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet.
xref: UMLS:C4022987
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
created_by: peter
creation_date: 2013-04-07T09:49:56Z

[Term]
id: HP:0012259
name: Absent inner and outer dynein arms
def: "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528]
xref: UMLS:C4022986
is_a: HP:0012256 ! Absent outer dynein arms
is_a: HP:0012257 ! Absent inner dynein arms
created_by: peter
creation_date: 2013-04-07T09:40:14Z

[Term]
id: HP:0012260
name: Abnormal central microtubular pair morphology of respiratory motile cilia
def: "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson, pmid:19200523]
comment: The central microtubular pair is referred to as the central part of axoneme of cilium.
xref: UMLS:C4022985
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
created_by: peter
creation_date: 2013-04-07T09:58:27Z

[Term]
id: HP:0012261
name: Abnormal respiratory motile cilium physiology
def: "Any functional anomaly of the respiratory motile cilia." [HPO:probinson, MP:0011055]
comment: Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency.
xref: UMLS:C4022984
is_a: HP:0002795 ! Functional respiratory abnormality
created_by: peter
creation_date: 2013-04-07T10:05:43Z

[Term]
id: HP:0012262
name: Abnormal ciliary motility
def: "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [HPO:probinson, pmid:19606528, pmid:20301301]
comment: Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke.
xref: UMLS:C4022983
is_a: HP:0012261 ! Abnormal respiratory motile cilium physiology
created_by: peter
creation_date: 2013-04-07T10:10:35Z

[Term]
id: HP:0012263
name: Immotile cilia
xref: UMLS:C1855672
is_a: HP:0012262 ! Abnormal ciliary motility
created_by: peter
creation_date: 2013-04-07T10:11:17Z

[Term]
id: HP:0012264
name: Absent central microtubular pair morphology of respiratory motile cilia
def: "Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson]
xref: UMLS:C4022982
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
created_by: peter
creation_date: 2013-04-07T10:12:06Z

[Term]
id: HP:0012265
name: Ciliary dyskinesia
def: "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528]
comment: Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency.
xref: MSH:D002925
xref: SNOMEDCT_US:86204009
xref: UMLS:C0008780
is_a: HP:0012262 ! Abnormal ciliary motility
created_by: peter
creation_date: 2013-04-07T10:14:07Z

[Term]
id: HP:0012266
name: T-wave alternans
def: "A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG." [HPO:probinson, pmid:17592081]
xref: SNOMEDCT_US:428550008
xref: UMLS:C1998313
is_a: HP:0005135 ! Abnormal T-wave
created_by: peter
creation_date: 2013-04-07T10:23:08Z

[Term]
id: HP:0012267
name: Absent respiratory ciliary axoneme radial spokes
def: "Absence of the radial spokes of the axoneme of the respiratory cilium." [HPO:probinson, pmid:19606528]
xref: UMLS:C4022981
is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology
created_by: peter
creation_date: 2013-04-07T01:56:53Z

[Term]
id: HP:0012268
name: Myxoid liposarcoma
def: "A liposarcoma that contains myxomatous tissue." [HPO:probinson]
xref: MSH:D018208
xref: SNOMEDCT_US:27849002
xref: SNOMEDCT_US:404069006
xref: UMLS:C0206634
is_a: HP:0012034 ! Liposarcoma
created_by: peter
creation_date: 2013-04-07T01:59:19Z

[Term]
id: HP:0012269
name: Abnormal muscle glycogen content
def: "Any anomaly in the amount of glycogen in muscle tissue." [HPO:probinson]
comment: Glycogen functions as a secondary short term energy storage in muscle.
xref: UMLS:C4022980
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: peter
creation_date: 2013-04-07T02:04:03Z

[Term]
id: HP:0012270
name: Decreased muscle glycogen content
def: "A decreased amount of glycogen in muscle tissue." [HPO:probinson]
xref: UMLS:C4022979
is_a: HP:0012269 ! Abnormal muscle glycogen content
created_by: peter
creation_date: 2013-04-07T02:05:15Z

[Term]
id: HP:0012271
name: Episodic upper airway obstruction
def: "Intermittent episodes of increased resistance to the passage of air in the upper airway." [HPO:probinson]
xref: UMLS:C4022978
is_a: HP:0002781 ! Upper airway obstruction
created_by: peter
creation_date: 2013-04-07T02:08:33Z

[Term]
id: HP:0012272
name: J wave
def: "The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point." [HPO:probinson, pmid:19561994]
comment: J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome.
synonym: "EKG J waves" EXACT []
synonym: "Osborne waves" EXACT []
xref: UMLS:C4018858
is_a: HP:0003115 ! Abnormal EKG
created_by: peter
creation_date: 2013-04-07T02:11:05Z

[Term]
id: HP:0012273
name: Increased carotid artery intimal medial thickness
def: "An increase in the combined thickness of the intima and media of the carotid artery." [HPO:probinson, pmid:9878640]
comment: This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke.
xref: UMLS:C4022977
is_a: HP:0005344 ! Abnormal carotid artery morphology
created_by: peter
creation_date: 2013-04-07T02:16:23Z

[Term]
id: HP:0012274
name: Autosomal dominant inheritance with paternal imprinting
def: "A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing." [HPO:probinson, pmid:18678320]
comment: Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance.
xref: UMLS:C4022976
is_a: HP:0000006 ! Autosomal dominant inheritance
created_by: peter
creation_date: 2013-04-07T02:19:07Z

[Term]
id: HP:0012275
name: Autosomal dominant inheritance with maternal imprinting
def: "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing." [HPO:probinson]
comment: Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance.
xref: UMLS:C4022975
is_a: HP:0000006 ! Autosomal dominant inheritance
created_by: peter
creation_date: 2013-04-07T02:54:09Z

[Term]
id: HP:0012276
name: Digital flexor tenosynovitis
def: "Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit." [HPO:probinson, PMID:16443118]
comment: Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly.
synonym: "Trigger finger" EXACT layperson []
xref: UMLS:C4022974
is_a: HP:0100261 ! Abnormal tendon morphology
created_by: peter
creation_date: 2013-04-07T03:02:33Z

[Term]
id: HP:0012277
name: Hypoglycinemia
def: "An abnormally reduced concentration of glycine in the blood." [HPO:probinson]
synonym: "Low blood glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022973
is_a: HP:0010895 ! Abnormal circulating glycine concentration
created_by: peter
creation_date: 2013-04-07T03:54:41Z

[Term]
id: HP:0012278
name: Abnormal circulating serine concentration
def: "Any deviation from the normal concentration of serine in the blood circulation." [HPO:probinson]
xref: UMLS:C4022972
is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration
created_by: peter
creation_date: 2013-04-07T03:57:10Z

[Term]
id: HP:0012279
name: Hyposerinemia
def: "Reduced concentration of serine in the blood." [HPO:probinson]
synonym: "Low blood serine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022971
is_a: HP:0012278 ! Abnormal circulating serine concentration
created_by: peter
creation_date: 2013-04-07T03:57:25Z

[Term]
id: HP:0012280
name: Hepatic amyloidosis
def: "A form of amyloidosis that affects the liver." [HPO:probinson]
xref: SNOMEDCT_US:9551004
xref: UMLS:C0267839
is_a: HP:0011034 ! Amyloidosis
is_a: HP:0410042 ! Abnormal liver morphology
created_by: peter
creation_date: 2013-04-07T03:59:46Z

[Term]
id: HP:0012281
name: Chylous ascites
def: "Extravasation of chyle into the peritoneal cavity." [HPO:probinson]
synonym: "Chyloperitoneum" EXACT []
xref: MSH:D002915
xref: SNOMEDCT_US:52985009
xref: UMLS:C0008732
is_a: HP:0001541 ! Ascites
created_by: peter
creation_date: 2013-04-07T04:08:42Z

[Term]
id: HP:0012282
name: Morbilliform rash
def: "An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days." [HPO:probinson]
comment: A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas.
xref: SNOMEDCT_US:247470007
xref: SNOMEDCT_US:50495000
xref: UMLS:C0234918
is_a: HP:0000988 ! Skin rash
created_by: peter
creation_date: 2013-04-07T10:11:58Z

[Term]
id: HP:0012283
name: Small distal femoral epiphysis
def: "Reduced size of the Distal epiphysis of femur." [HPO:probinson]
synonym: "Small end part of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022970
is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis
created_by: peter
creation_date: 2013-04-09T07:33:19Z

[Term]
id: HP:0012284
name: Small proximal tibial epiphyses
def: "Reduced size of the proximal epiphysis of the tibia." [HPO:probinson]
synonym: "Small end part of innermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of innermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022969
is_a: HP:0010585 ! Small epiphyses
is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis
created_by: peter
creation_date: 2013-04-09T07:36:38Z

[Term]
id: HP:0012285
name: Abnormal hypothalamus physiology
def: "An abnormal functionality of the hypothalamus." [HPO:probinson]
comment: The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones.
xref: UMLS:C4022968
is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis
is_a: HP:0010662 ! Abnormality of the diencephalon
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: peter
creation_date: 2013-04-09T07:51:07Z

[Term]
id: HP:0012286
name: Abnormal hypothalamus morphology
alt_id: HP:0002443
def: "Any structural anomaly of the hypothalamus." [HPO:probinson]
comment: The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones.
synonym: "Abnormal shape of hypothalamus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of hypothalamus morphology" EXACT []
synonym: "Abnormality of the hypothalamus" EXACT []
xref: UMLS:C4021095
is_a: HP:0010662 ! Abnormality of the diencephalon
created_by: peter
creation_date: 2013-04-09T07:53:16Z

[Term]
id: HP:0012287
name: Hypothalamic luteinizing hormone-releasing hormone deficiency
def: "Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus." [HPO:probinson]
xref: UMLS:C4022967
is_a: HP:0012285 ! Abnormal hypothalamus physiology
created_by: peter
creation_date: 2013-04-09T07:54:46Z

[Term]
id: HP:0012288
name: Neoplasm of head and neck
def: "A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx." [HPO:probinson]
synonym: "Head and neck cancer" RELATED []
synonym: "Head and neck tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006258
xref: SNOMEDCT_US:255055008
xref: SNOMEDCT_US:255056009
xref: UMLS:C0018671
xref: UMLS:C0278996
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: peter
creation_date: 2013-04-11T05:44:24Z

[Term]
id: HP:0012289
name: Facial neoplasm
def: "A tumor (abnormal growth of tissue) of the face." [HPO:probinson]
synonym: "Face tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D005153
xref: NCIT:C3262
xref: SNOMEDCT_US:126632002
xref: UMLS:C0015461
is_a: HP:0012288 ! Neoplasm of head and neck
created_by: peter
creation_date: 2013-04-11T05:46:35Z

[Term]
id: HP:0012290
name: Mouth neoplasm
def: "A tumor (abnormal growth of tissue) of the mouth." [HPO:probinson]
synonym: "Mouth tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009062
xref: NCIT:C3262
xref: SNOMEDCT_US:126797001
xref: SNOMEDCT_US:235075007
xref: UMLS:C0026640
is_a: HP:0012288 ! Neoplasm of head and neck
created_by: peter
creation_date: 2013-04-11T05:48:12Z

[Term]
id: HP:0012291
name: obsolete Tracheal neoplasm
is_obsolete: true
replaced_by: HP:0100551
created_by: peter
creation_date: 2013-04-11T05:49:21Z

[Term]
id: HP:0012292
name: Fusion of gums
def: "A congenital defect with an abnormal joining of the gums of the upper and lower jaw." [HPO:probinson, pmid:19858676]
synonym: "Fusion of gums" EXACT layperson []
synonym: "Fusion of the gingiva" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Gingival synechia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Partial fusion of the gums" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Synechia of the gums" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Upper and lower gums fused together" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022966
is_a: HP:0000168 ! Abnormality of the gingiva
created_by: peter
creation_date: 2013-04-11T05:52:35Z

[Term]
id: HP:0012293
name: Abnormal genital pigmentation
def: "An abnormal pigmentation pattern of the external genitalia." [HPO:probinson]
xref: UMLS:C4022965
is_a: HP:0000811 ! Abnormal external genitalia
created_by: peter
creation_date: 2013-04-11T06:02:08Z

[Term]
id: HP:0012294
name: Abnormality of the occipital bone
def: "Abnormality of the occipital bone of the skull." [HPO:probinson]
xref: UMLS:C4022964
is_a: HP:0000929 ! Abnormality of the skull
created_by: peter
creation_date: 2013-04-11T06:21:12Z

[Term]
id: HP:0012295
name: Slender middle phalanx of finger
def: "Reduced diameter of the middle phalanx of finger." [HPO:probinson]
synonym: "Slender middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022963
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: peter
creation_date: 2013-04-12T05:40:22Z

[Term]
id: HP:0012296
name: Slender distal phalanx of finger
def: "Reduced diameter of the distal phalanx of finger." [HPO:probinson]
synonym: "Slender outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022962
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: peter
creation_date: 2013-04-12T05:42:46Z

[Term]
id: HP:0012297
name: Slender proximal phalanx of finger
def: "Reduced diameter of the proximal phalanx of finger." [HPO:probinson]
synonym: "Slender innermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022961
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
created_by: peter
creation_date: 2013-04-12T05:45:35Z

[Term]
id: HP:0012298
name: Long middle phalanx of finger
def: "Increased length of the middle phalanx of finger." [HPO:probinson]
synonym: "Long middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022960
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
created_by: peter
creation_date: 2013-04-12T05:46:43Z

[Term]
id: HP:0012299
name: Long distal phalanx of finger
def: "Increased length of the distal phalanx of finger." [HPO:probinson]
synonym: "Long outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021865
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
created_by: peter
creation_date: 2013-04-12T05:48:52Z

[Term]
id: HP:0012300
name: Ureteral agenesis
def: "Failure of the ureter to undergo development." [HPO:probinson]
xref: UMLS:C4022959
is_a: HP:0000069 ! Abnormality of the ureter
created_by: peter
creation_date: 2013-04-13T06:00:10Z

[Term]
id: HP:0012301
name: Type II transferrin isoform profile
def: "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation." [HPO:probinson, pmid:15105360, pmid:22516080]
comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal.
synonym: "Abnormal isoelectric focusing of serum transferrin, type 2 pattern" RELATED []
synonym: "Abnormal isoelectric focusing of serum transferrin, type II pattern" EXACT []
synonym: "Isoelectric focusing of serum transferrin consistent with CDG type II" EXACT []
synonym: "Type 2 transferrin isoform profile" EXACT []
xref: UMLS:C4021094
is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin
created_by: peter
creation_date: 2013-04-14T08:55:20Z

[Term]
id: HP:0012302
name: Herpes simplex encephalitis
def: "A severe virus infection of the central nervous system by the herpes simplex virus (HSV)." [HPO:probinson]
comment: Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV.
xref: MSH:D020803
xref: SNOMEDCT_US:428638009
xref: UMLS:C0276226
is_a: HP:0032101 ! Unusual infection
created_by: peter
creation_date: 2013-04-14T02:43:10Z

[Term]
id: HP:0012303
name: Abnormal aortic arch morphology
def: "An anomaly of the arch of aorta." [HPO:probinson]
synonym: "Abnormality of the aortic arch" EXACT []
xref: Fyler:2700
xref: SNOMEDCT_US:448742006
xref: UMLS:C3163801
is_a: HP:0001679 ! Abnormal aortic morphology
created_by: peter
creation_date: 2013-08-06T10:06:07Z

[Term]
id: HP:0012304
name: Hypoplastic aortic arch
def: "Underdevelopment of the arch of aorta." [HPO:probinson]
synonym: "Aortic arch hypoplasia" EXACT []
synonym: "Underdeveloped aortic arch" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:2704
xref: SNOMEDCT_US:60787001
xref: UMLS:C0265881
is_a: HP:0012303 ! Abnormal aortic arch morphology
created_by: peter
creation_date: 2013-08-06T10:10:36Z

[Term]
id: HP:0012305
name: Coarctation of the descending aortic arch
def: "Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta." [HPO:probinson]
xref: UMLS:C4022958
is_a: HP:0001680 ! Coarctation of aorta
is_a: HP:0012303 ! Abnormal aortic arch morphology
created_by: peter
creation_date: 2013-08-06T10:34:15Z

[Term]
id: HP:0012306
name: Abnormal rib ossification
def: "An anomaly of the process of rib bone formation." [HPO:probinson]
synonym: "Abnormal maturation of rib bones" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022957
is_a: HP:0000772 ! Abnormality of the ribs
is_a: HP:0003336 ! Abnormal enchondral ossification
created_by: peter
creation_date: 2013-08-10T09:31:03Z

[Term]
id: HP:0012307
name: Spatulate ribs
def: "Ribs that are increased in width and taper to the posterior ends." [HPO:probinson, pmid:20504305]
comment: This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name.
xref: UMLS:C1856637
is_a: HP:0000885 ! Broad ribs
created_by: peter
creation_date: 2013-08-10T10:15:15Z

[Term]
id: HP:0012308
name: Decreased serum complement C9
def: "A reduced level of the complement component C9 in circulation." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum C9" EXACT []
xref: UMLS:C4021093
is_a: HP:0004431 ! Complement deficiency
created_by: peter
creation_date: 2013-08-10T11:07:25Z

[Term]
id: HP:0012309
name: Cutaneous amyloidosis
def: "The presence of amyloid deposition in the superficial dermis." [HPO:probinson, pmid:19690585]
xref: MSH:C562642
xref: SNOMEDCT_US:201337008
xref: SNOMEDCT_US:281882003
xref: SNOMEDCT_US:282834007
xref: SNOMEDCT_US:718105008
xref: UMLS:C0268397
is_a: HP:0011034 ! Amyloidosis
created_by: peter
creation_date: 2013-08-10T11:59:57Z

[Term]
id: HP:0012310
name: Abnormal monocyte count
def: "An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." [HPO:probinson]
synonym: "Abnormal monocyte number" EXACT []
xref: SNOMEDCT_US:165540007
xref: SNOMEDCT_US:165541006
xref: UMLS:C0580319
is_a: HP:0011893 ! Abnormal leukocyte count
is_a: HP:0012144 ! Abnormality monocyte morphology
created_by: peter
creation_date: 2013-08-10T12:07:14Z

[Term]
id: HP:0012311
name: Monocytosis
def: "An increased number of circulating monocytes." [HPO:probinson]
synonym: "High blood monocyte number" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:19636003
xref: UMLS:C0085702
is_a: HP:0012310 ! Abnormal monocyte count
created_by: peter
creation_date: 2013-08-10T12:09:16Z

[Term]
id: HP:0012312
name: Monocytopenia
def: "An decreased number of circulating monocytes." [HPO:probinson]
synonym: "Low blood monocyte number" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:165539005
xref: UMLS:C0427544
is_a: HP:0012310 ! Abnormal monocyte count
created_by: peter
creation_date: 2013-08-10T12:10:07Z

[Term]
id: HP:0012313
name: Heberden's node
def: "Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [HPO:probinson, pmid:10531070, PMID:17488856, pmid:9709182]
comment: Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate.
xref: SNOMEDCT_US:371598009
xref: UMLS:C0018862
is_a: HP:0006247 ! Enlarged interphalangeal joints
created_by: peter
creation_date: 2013-08-10T12:19:59Z

[Term]
id: HP:0012314
name: Bouchard's node
def: "Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [HPO:probinson, pmid:10531070, pmid:9709182]
comment: Heberden's nodes are generally a sign of osteoarthritis.
xref: SNOMEDCT_US:20243008
xref: UMLS:C0263780
is_a: HP:0006247 ! Enlarged interphalangeal joints
created_by: peter
creation_date: 2013-08-10T12:27:25Z

[Term]
id: HP:0012315
name: Histiocytoma
def: "A neoplasm containing histiocytes." [HPO:probinson]
xref: MSH:D051642
xref: SNOMEDCT_US:128741006
xref: SNOMEDCT_US:302843004
xref: UMLS:C1509147
is_a: HP:0012316 ! Fibrous tissue neoplasm
created_by: peter
creation_date: 2013-08-10T12:30:05Z

[Term]
id: HP:0012316
name: Fibrous tissue neoplasm
def: "Any neoplasm composed of fibrous tissue." [HPO:probinson]
xref: MSH:D018218
xref: UMLS:C0206643
is_a: HP:0011792 ! Neoplasm by histology
created_by: peter
creation_date: 2013-08-10T12:31:38Z

[Term]
id: HP:0012317
name: Sacroiliac arthritis
def: "Inflammation of the sacroiliac joint, generally accompanied by lower back pain." [HPO:probinson]
synonym: "Sacroiliitis" EXACT []
xref: MSH:C563037
xref: UMLS:C0748473
is_a: HP:0002758 ! Osteoarthritis
is_a: HP:0100781 ! Abnormality of the sacroiliac joint
created_by: peter
creation_date: 2013-08-10T12:58:43Z

[Term]
id: HP:0012318
name: Occipital neuralgia
def: "A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side." [HPO:probinson, pmid:21569290]
comment: Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms.
xref: SNOMEDCT_US:71760005
xref: UMLS:C0007863
is_a: HP:0002315 ! Headache
created_by: peter
creation_date: 2013-08-10T01:07:45Z

[Term]
id: HP:0012319
name: Absent pigmentation of the abdomen
def: "Lack of skin pigmentation (coloring) of the abdomen." [HPO:probinson]
xref: UMLS:C4022956
is_a: HP:0200098 ! Absent skin pigmentation
created_by: peter
creation_date: 2013-08-10T08:21:54Z

[Term]
id: HP:0012320
name: Absent pigmentation of the limbs
def: "Lack of skin pigmentation (coloring) of the arms and legs." [HPO:probinson]
xref: UMLS:C4022955
is_a: HP:0200098 ! Absent skin pigmentation
created_by: peter
creation_date: 2013-08-10T08:22:30Z

[Term]
id: HP:0012321
name: D-2-hydroxyglutaric aciduria
def: "An increased concentration of 2-hydroxyglutaric acid in the urine." [HPO:probinson, pmid:20847235]
xref: SNOMEDCT_US:237960000
xref: UMLS:C1833429
is_a: HP:0032278 ! 2-hydroxyglutarate aciduria
created_by: peter
creation_date: 2013-08-11T08:46:46Z

[Term]
id: HP:0012322
name: Perifolliculitis
def: "Inflammation surrounding hair follicles." [HPO:probinson]
synonym: "Perifollicular inflammation" EXACT []
xref: SNOMEDCT_US:83341004
xref: UMLS:C0263006
is_a: HP:0011123 ! Inflammatory abnormality of the skin
created_by: peter
creation_date: 2013-08-11T09:25:58Z

[Term]
id: HP:0012323
name: Sleep myoclonus
def: "Myoclonus that occurs during the initial phases of sleep." [HPO:probinson]
xref: MSH:D009207
xref: SNOMEDCT_US:34101000119105
xref: UMLS:C0751352
is_a: HP:0001336 ! Myoclonus
created_by: peter
creation_date: 2013-08-11T10:21:47Z

[Term]
id: HP:0012324
name: Myeloid leukemia
def: "A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow." [HPO:probinson]
xref: MSH:D007951
xref: SNOMEDCT_US:128934006
xref: SNOMEDCT_US:188732008
xref: SNOMEDCT_US:37810007
xref: UMLS:C0023470
is_a: HP:0001909 ! Leukemia
created_by: peter
creation_date: 2013-08-12T06:38:18Z

[Term]
id: HP:0012325
name: Chronic myelomonocytic leukemia
def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178]
xref: MSH:D015477
xref: SNOMEDCT_US:127225006
xref: SNOMEDCT_US:128831004
xref: UMLS:C0023480
is_a: HP:0012324 ! Myeloid leukemia
created_by: peter
creation_date: 2013-08-12T06:45:11Z

[Term]
id: HP:0012326
name: Abnormal celiac artery morphology
def: "An anomaly of the celiac artery." [HPO:probinson]
comment: The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta.
synonym: "Abnormality of the celiac artery" EXACT []
xref: UMLS:C4022954
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: peter
creation_date: 2013-08-12T08:47:21Z

[Term]
id: HP:0012327
name: Celiac artery compression
def: "Compression of the celiac artery." [HPO:probinson]
comment: This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament.
synonym: "Celiac axis syndrome" RELATED []
synonym: "Dunbar syndrome" RELATED []
synonym: "Median arcuate ligament syndrome" RELATED []
xref: SNOMEDCT_US:9250002
xref: UMLS:C0152098
xref: UMLS:C4020693
is_a: HP:0012326 ! Abnormal celiac artery morphology
created_by: peter
creation_date: 2013-08-12T08:49:18Z

[Term]
id: HP:0012328
name: Cementoma
def: "An odontogenic tumor of the cementum of tooth." [HPO:probinson]
xref: MSH:D002485
xref: SNOMEDCT_US:23255001
xref: SNOMEDCT_US:37258009
xref: UMLS:C0007659
is_a: HP:0100612 ! Odontogenic neoplasm
created_by: peter
creation_date: 2013-08-12T08:55:10Z

[Term]
id: HP:0012329
name: Tufted angioma
def: "A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation." [HPO:probinson, pmid:2644316]
synonym: "Angioblastoma" EXACT []
synonym: "Angioblastoma of Nakagawa" EXACT []
synonym: "Hypertrophic hemangioma" EXACT []
synonym: "Progressive capillary hemangioma" EXACT []
synonym: "Tufted hemangioma" EXACT []
xref: MSH:C536924
xref: SNOMEDCT_US:254786000
xref: SNOMEDCT_US:705155008
xref: UMLS:C0346073
is_a: HP:0001028 ! Hemangioma
created_by: peter
creation_date: 2013-08-12T08:57:58Z

[Term]
id: HP:0012330
name: Pyelonephritis
def: "An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices." [HPO:probinson]
comment: Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting.
xref: MSH:D011704
xref: SNOMEDCT_US:45816000
xref: UMLS:C0034186
is_a: HP:0000123 ! Nephritis
created_by: peter
creation_date: 2013-09-13T07:37:08Z

[Term]
id: HP:0012331
name: Abnormal autonomic nervous system morphology
def: "A structural abnormality of the autonomic nervous system." [HPO:probinson]
xref: UMLS:C4022953
is_a: HP:0002270 ! Abnormality of the autonomic nervous system
created_by: peter
creation_date: 2013-09-13T07:52:31Z

[Term]
id: HP:0012332
name: Abnormal autonomic nervous system physiology
alt_id: HP:0002271
alt_id: HP:0002387
alt_id: HP:0002459
alt_id: HP:0007310
def: "A functional abnormality of the autonomic nervous system." [HPO:probinson]
synonym: "Autonomic dysfunction" EXACT []
synonym: "Autonomic dysregulation" EXACT []
synonym: "Dysautonomia" EXACT []
xref: UMLS:C4022952
is_a: HP:0002270 ! Abnormality of the autonomic nervous system
created_by: peter
creation_date: 2013-09-13T07:53:55Z

[Term]
id: HP:0012333
name: Abnormal sudomotor regulation
def: "An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration." [HPO:probinson]
comment: Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system.
synonym: "Sudomotor sympathetic dysfunction" EXACT []
xref: UMLS:C4021092
is_a: HP:0012332 ! Abnormal autonomic nervous system physiology
created_by: peter
creation_date: 2013-09-13T08:04:38Z

[Term]
id: HP:0012334
name: Extrahepatic cholestasis
def: "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson]
xref: MSH:D001651
xref: SNOMEDCT_US:20719006
xref: SNOMEDCT_US:8262006
xref: UMLS:C0005398
is_a: HP:0001396 ! Cholestasis
created_by: peter
creation_date: 2013-09-13T08:13:48Z

[Term]
id: HP:0012335
name: Abnormality of folate metabolism
def: "An abnormality of the metabolism of folic acid, which is also known as vitamin B9." [HPO:probinson]
xref: UMLS:C4022951
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
created_by: peter
creation_date: 2013-09-13T08:38:06Z

[Term]
id: HP:0012336
name: Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration
def: "A decreased concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid." [HPO:probinson]
synonym: "Reduced CSF 5-methyltetrahydrofolate concentration" EXACT HP:0045077 []
xref: UMLS:C4021091
is_a: HP:0012335 ! Abnormality of folate metabolism
created_by: peter
creation_date: 2013-09-13T08:39:17Z

[Term]
id: HP:0012337
name: Abnormal homeostasis
def: "An anomaly in the processes involved in the maintenance of an internal equilibrium." [HPO:probinson]
xref: MP:0001764 "Abnormal homeostasis"
xref: UMLS:C4022950
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
created_by: peter
creation_date: 2013-09-13T09:23:23Z

[Term]
id: HP:0012338
name: Abnormal energy expenditure
def: "Any anomaly in the utilization of energy (calories)." [HPO:probinson]
synonym: "Abnormal energy expenditure" EXACT layperson []
xref: UMLS:C4022949
is_a: HP:0012337 ! Abnormal homeostasis
created_by: peter
creation_date: 2013-09-13T09:24:54Z

[Term]
id: HP:0012339
name: Increased resting energy expenditure
def: "An increase in the number of calories used per unit time." [HPO:probinson]
xref: UMLS:C4022948
is_a: HP:0012338 ! Abnormal energy expenditure
created_by: peter
creation_date: 2013-09-13T09:25:29Z

[Term]
id: HP:0012340
name: Decreased resting energy expenditure
def: "A reduction in the number of calories used per unit time." [HPO:probinson]
xref: UMLS:C4022947
is_a: HP:0012338 ! Abnormal energy expenditure
created_by: peter
creation_date: 2013-09-13T09:27:05Z

[Term]
id: HP:0012341
name: Microprolactinoma
def: "A pituitary prolactin cell adenoma of less than 10 mm diameter." [HPO:probinson]
xref: MSH:D015175
xref: SNOMEDCT_US:253010003
xref: UMLS:C0344452
is_a: HP:0006767 ! Pituitary prolactin cell adenoma
created_by: peter
creation_date: 2013-09-13T09:49:32Z

[Term]
id: HP:0012342
name: Macroprolactinoma
def: "A pituitary prolactin cell adenoma of more than 10 mm diameter." [HPO:probinson]
xref: MSH:D015175
xref: SNOMEDCT_US:253011004
xref: UMLS:C0344453
is_a: HP:0006767 ! Pituitary prolactin cell adenoma
created_by: peter
creation_date: 2013-09-13T09:50:29Z

[Term]
id: HP:0012343
name: Decreased serum ferritin
def: "Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson]
comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.
synonym: "Decreased plasma ferritin" EXACT []
synonym: "Decreased serum ferritin" EXACT layperson []
synonym: "Low ferritin level" EXACT layperson []
synonym: "Reduced serum ferritin" EXACT layperson []
xref: UMLS:C0241012
is_a: HP:0040133 ! Abnormal serum ferritin
created_by: peter
creation_date: 2013-09-13T09:51:46Z

[Term]
id: HP:0012344
name: Morphea
def: "Isolated patches of hardened skin (scleroderma)." [HPO:probinson]
xref: MSH:D012594
xref: SNOMEDCT_US:201049004
xref: UMLS:C1527383
is_a: HP:0001072 ! Thickened skin
created_by: peter
creation_date: 2013-09-13T09:55:47Z

[Term]
id: HP:0012345
name: Abnormal glycosylation
def: "An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." [HPO:probinson]
xref: UMLS:C4022946
is_a: HP:0032245 ! Abnormal metabolism
created_by: peter
creation_date: 2013-09-15T09:06:16Z

[Term]
id: HP:0012346
name: Abnormal protein glycosylation
def: "An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." [HPO:probinson]
xref: UMLS:C4022945
is_a: HP:0012345 ! Abnormal glycosylation
created_by: peter
creation_date: 2013-09-15T09:09:40Z

[Term]
id: HP:0012347
name: Abnormal protein N-linked glycosylation
def: "An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." [HPO:probinson, pmid:22516080]
comment: Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling.
xref: UMLS:C4022944
is_a: HP:0012346 ! Abnormal protein glycosylation
created_by: peter
creation_date: 2013-09-15T09:29:59Z

[Term]
id: HP:0012348
name: Decreased galactosylation of N-linked protein glycosylation
def: "A reduction in the amount of galactose residues of N-glycans." [HPO:probinson]
comment: The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence.
xref: UMLS:C4022943
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
created_by: peter
creation_date: 2013-09-15T10:02:47Z

[Term]
id: HP:0012349
name: Abnormal sialylation of N-linked protein glycosylation
def: "An anomaly of the addition of sialic acids to N-linked glycans." [HPO:probinson]
comment: The most common sialic acids is N-acetylneuraminic acid (Neu5Ac).
xref: UMLS:C4022942
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
created_by: peter
creation_date: 2013-09-15T10:08:34Z

[Term]
id: HP:0012350
name: Decreased sialylation of N-linked protein glycosylation
def: "Decreased addition of sialic acids to N-linked glycans." [HPO:probinson]
xref: UMLS:C4022941
is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation
created_by: peter
creation_date: 2013-09-15T10:14:42Z

[Term]
id: HP:0012351
name: Increased sialylation of N-linked protein glycosylation
def: "Increased addition of sialic acids to N-linked glycans." [HPO:probinson]
xref: UMLS:C4022940
is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation
created_by: peter
creation_date: 2013-09-15T10:15:28Z

[Term]
id: HP:0012352
name: Abnormal fucosylation of protein N-linked glycosylation
def: "An anomaly of the addition of fucose sugar units to N-linked glycans." [HPO:probinson]
xref: UMLS:C4022939
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
created_by: peter
creation_date: 2013-09-15T10:17:55Z

[Term]
id: HP:0012353
name: Decreased fucosylation of N-linked protein glycosylation
def: "Decreased addition of fucose sugar units to N-linked glycans." [HPO:probinson]
xref: UMLS:C4022938
is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation
created_by: peter
creation_date: 2013-09-15T10:20:00Z

[Term]
id: HP:0012354
name: Increased fucosylation of N-linked protein glycosylation
def: "Increased addition of fucose sugar units to N-linked glycans." [HPO:probinson]
xref: UMLS:C4022937
is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation
created_by: peter
creation_date: 2013-09-15T10:21:15Z

[Term]
id: HP:0012355
name: Abnormal mannosylation of N-linked protein glycosylation
def: "An anomaly of the addition of mannose to N-linked glycans." [HPO:probinson]
xref: UMLS:C4022936
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
created_by: peter
creation_date: 2013-09-15T10:23:53Z

[Term]
id: HP:0012356
name: Decreased mannosylation of N-linked protein glycosylation
def: "Reduced addition of mannose to N-linked glycans." [HPO:probinson]
xref: UMLS:C4022935
is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation
created_by: peter
creation_date: 2013-09-15T10:24:56Z

[Term]
id: HP:0012357
name: Increased mannosylation of N-linked protein glycosylation
def: "Increased addition of mannose to N-linked glycans." [HPO:probinson]
xref: UMLS:C4022934
is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation
created_by: peter
creation_date: 2013-09-15T10:25:28Z

[Term]
id: HP:0012358
name: Abnormal protein O-linked glycosylation
def: "An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." [HPO:probinson]
xref: UMLS:C4022933
is_a: HP:0012346 ! Abnormal protein glycosylation
created_by: peter
creation_date: 2013-09-15T10:26:49Z

[Term]
id: HP:0012359
name: Abnormal fucosylation of O-linked protein glycosylation
def: "An anomaly of the addition of fucose sugar units to O-linked glycans." [HPO:probinson]
xref: UMLS:C4022932
is_a: HP:0012358 ! Abnormal protein O-linked glycosylation
created_by: peter
creation_date: 2013-09-15T10:31:07Z

[Term]
id: HP:0012360
name: Decreased fucosylation of O-linked protein glycosylation
def: "A reduction of the addition of fucose sugar units to O-linked glycans." [HPO:probinson]
xref: UMLS:C4022931
is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation
created_by: peter
creation_date: 2013-09-15T10:33:00Z

[Term]
id: HP:0012361
name: Increased fucosylation of O-linked protein glycosylation
def: "Increased addition of fucose sugar units to O-linked glycans." [HPO:probinson]
xref: UMLS:C4022930
is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation
created_by: peter
creation_date: 2013-09-15T10:34:38Z

[Term]
id: HP:0012362
name: Abnormal sialylation of O-linked protein glycosylation
def: "An anomaly of the addition of sialic acids to O-linked glycans." [HPO:probinson]
xref: UMLS:C4022929
is_a: HP:0012358 ! Abnormal protein O-linked glycosylation
created_by: peter
creation_date: 2013-09-15T10:36:12Z

[Term]
id: HP:0012363
name: Decreased sialylation of O-linked protein glycosylation
def: "An reduced addition of sialic acids to O-linked glycans." [HPO:probinson]
xref: UMLS:C4022928
is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation
created_by: peter
creation_date: 2013-09-15T10:36:43Z

[Term]
id: HP:0012364
name: Decreased urinary potassium
def: "A decreased concentration of potassium(1+) in the urine." [HPO:probinson]
synonym: "Decreased urinary K" EXACT HP:0045077 []
synonym: "Hypokaluria" EXACT []
synonym: "Low urine potassium levels" EXACT [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:54781007
xref: UMLS:C0268024
is_a: HP:0012598 ! Abnormal urine potassium concentration
created_by: peter
creation_date: 2013-10-03T10:21:51Z

[Term]
id: HP:0012365
name: Hypophosphaturia
def: "An abnormally decreased phosphate concentration in the urine." [HPO:probinson]
synonym: "Low urine phosphate levels" EXACT [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:91632005
xref: UMLS:C0268077
is_a: HP:0012599 ! Abnormal urine phosphate concentration
created_by: peter
creation_date: 2013-10-03T10:25:06Z

[Term]
id: HP:0012366
name: Basilar invagination
def: "Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama)." [HPO:probinson, pmid:10084535]
xref: UMLS:C3887851
is_a: HP:0000932 ! Abnormality of the posterior cranial fossa
created_by: peter
creation_date: 2013-10-13T12:18:53Z

[Term]
id: HP:0012367
name: Extra fontanelles
def: "Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull." [HPO:probinson]
comment: Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles.
subset: hposlim_core
xref: UMLS:C4022927
is_a: HP:0011328 ! Abnormality of fontanelles
created_by: peter
creation_date: 2013-10-13T12:27:03Z

[Term]
id: HP:0012368
name: Flat face
def: "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436]
comment: A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave.
subset: hposlim_core
synonym: "Flat face" EXACT layperson []
synonym: "Flat facial profile" EXACT [HPO:skoehler]
synonym: "Flat facial shape" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Flat facies" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1853241
is_a: HP:0001999 ! Abnormal facial shape
created_by: peter
creation_date: 2013-10-13T01:49:13Z

[Term]
id: HP:0012369
name: Abnormality of malar bones
def: "An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436]
comment: The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge.
synonym: "Anomaly of the malar bones" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the malar bones" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malar anomaly" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the malar bones" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022926
is_a: HP:0000309 ! Abnormality of the midface
is_a: HP:0010668 ! Abnormality of the zygomatic bone
created_by: peter
creation_date: 2013-10-13T02:37:51Z

[Term]
id: HP:0012370
name: Prominence of the zygomatic bone
def: "Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'." [ORCID:0000-0001-5889-4463, pmid:19125436]
subset: hposlim_core
synonym: "Cheekbone excess" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of cheekbone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of zygomatic bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malar hypertrophy" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominence of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Pronounced cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Zygomatic bone excess" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Zygomatic hypertrophy" NARROW [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:427888001
xref: UMLS:C0375511
xref: UMLS:C1997760
xref: UMLS:C4082245
is_a: HP:0010668 ! Abnormality of the zygomatic bone
created_by: peter
creation_date: 2013-10-13T02:50:15Z

[Term]
id: HP:0012371
name: Hyperplasia of midface
alt_id: HP:0010279
def: "Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face" [HPO:probinson, pmid:19125436]
comment: This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia.
subset: hposlim_core
synonym: "Big midface" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of midface" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Large midface" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Midface hyperplasia" EXACT [HPO:skoehler]
synonym: "Midfacial excess" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Midfacial prominence" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of the midface" RELATED layperson [HPO:skoehler]
xref: UMLS:C0240309
is_a: HP:0000309 ! Abnormality of the midface
created_by: peter
creation_date: 2013-10-13T02:55:54Z

[Term]
id: HP:0012372
name: Abnormal eye morphology
alt_id: HP:0000489
alt_id: HP:0012374
def: "A structural anomaly of the globe of the eye, or bulbus oculi." [HPO:probinson]
synonym: "Abnormal eye morphology" EXACT layperson []
synonym: "Abnormality of the globe" EXACT []
synonym: "Abnormally shaped eye" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:4863
xref: UMLS:C4022925
is_a: HP:0000478 ! Abnormality of the eye
created_by: peter
creation_date: 2013-10-13T03:44:43Z

[Term]
id: HP:0012373
name: Abnormal eye physiology
def: "A functional anomaly of the eye." [HPO:probinson]
synonym: "Abnormal eye physiology" EXACT layperson []
xref: UMLS:C4022924
is_a: HP:0000478 ! Abnormality of the eye
created_by: peter
creation_date: 2013-10-13T03:45:37Z

[Term]
id: HP:0012374
name: obsolete Abnormal globe morphology
is_obsolete: true
replaced_by: HP:0012372

[Term]
id: HP:0012375
name: Chemosis
def: "Edema (swelling) of the bulbar conjunctiva." [HPO:probinson]
xref: SNOMEDCT_US:8148005
xref: UMLS:C0271298
is_a: HP:0000502 ! Abnormal conjunctiva morphology
created_by: peter
creation_date: 2013-10-13T05:45:45Z

[Term]
id: HP:0012376
name: Microphakia
def: "Abnormal smallness of the lens." [HPO:probinson]
subset: hposlim_core
synonym: "Small lens" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:35272001
xref: UMLS:C0266541
is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens
created_by: peter
creation_date: 2013-10-13T06:11:11Z

[Term]
id: HP:0012377
name: Hemianopia
def: "Partial or complete loss of vision in one half of the visual field of one or both eyes." [HPO:probinson]
synonym: "Hemianopsia" EXACT []
xref: MSH:D006423
xref: SNOMEDCT_US:77674003
xref: UMLS:C0018979
is_a: HP:0001123 ! Visual field defect
created_by: peter
creation_date: 2013-10-13T07:55:21Z

[Term]
id: HP:0012378
name: Fatigue
def: "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
comment: Fatigue is distinct from muscle weakness.
synonym: "Fatigue" EXACT layperson []
synonym: "Malaise" RELATED []
synonym: "Tired" EXACT layperson []
synonym: "Tiredness" EXACT layperson []
xref: MSH:D005221
xref: SNOMEDCT_US:248274002
xref: SNOMEDCT_US:84229001
xref: UMLS:C0015672
is_a: HP:0025142 ! Constitutional symptom
created_by: peter
creation_date: 2013-10-15T08:52:04Z

[Term]
id: HP:0012379
name: Abnormal enzyme/coenzyme activity
def: "An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme." [HPO:probinson, MP:0005584]
xref: UMLS:C4022922
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
created_by: peter
creation_date: 2013-10-15T08:58:55Z

[Term]
id: HP:0012380
name: Reduced carnitine O-palmitoyltransferase activity
def: "Reduced carnitine O-palmitoyltransferase activity, i.e., reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine." [HPO:probinson]
xref: UMLS:C4022921
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: peter
creation_date: 2013-10-15T09:00:17Z

[Term]
id: HP:0012381
name: Delayed self-feeding during toddler years
def: "A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age)." [HPO:probinson]
xref: UMLS:C4022920
is_a: HP:0011968 ! Feeding difficulties
created_by: peter
creation_date: 2013-10-16T11:46:54Z

[Term]
id: HP:0012382
name: Left-to-right shunt
def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right." [HPO:mhaendel]
xref: SNOMEDCT_US:66130006
xref: UMLS:C0428870
is_a: HP:0001693 ! Cardiac shunt
created_by: peter
creation_date: 2013-10-16T11:54:21Z

[Term]
id: HP:0012383
name: Bidirectional shunt
def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa." [HPO:mhaendel]
xref: SNOMEDCT_US:13352000
xref: UMLS:C0428872
is_a: HP:0001693 ! Cardiac shunt
created_by: peter
creation_date: 2013-10-16T11:54:45Z

[Term]
id: HP:0012384
name: Rhinitis
def: "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson]
subset: hposlim_core
synonym: "Nasal inflammation" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D012220
xref: SNOMEDCT_US:70076002
xref: UMLS:C0035455
xref: UMLS:C2718128
is_a: HP:0000366 ! Abnormality of the nose
created_by: hecht
creation_date: 2013-10-19T05:37:08Z

[Term]
id: HP:0012385
name: Camptodactyly
def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson]
subset: hposlim_core
synonym: "Permanent flexion of the finger or toe" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:29271008
xref: UMLS:C0685409
is_a: HP:0030044 ! Flexion contracture of digit
created_by: hecht
creation_date: 2013-10-20T08:08:19Z

[Term]
id: HP:0012386
name: Absent hallux
def: "Aplasia of the hallux, that is, a development defect such that the big toe does not develop." [HPO:probinson]
synonym: "Absent big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Agenesis of the halluces" EXACT []
synonym: "Aplasia of the hallux" EXACT []
synonym: "Missing big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1841686
is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux
created_by: hecht
creation_date: 2013-10-20T12:03:14Z

[Term]
id: HP:0012387
name: Bronchitis
def: "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi." [HPO:probinson]
xref: MSH:D001991
xref: SNOMEDCT_US:32398004
xref: UMLS:C0006277
is_a: HP:0011947 ! Respiratory tract infection
created_by: peter
creation_date: 2013-11-07T07:24:16Z

[Term]
id: HP:0012388
name: Acute bronchitis
def: "Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness." [HPO:probinson]
xref: SNOMEDCT_US:10509002
xref: SNOMEDCT_US:35301006
xref: UMLS:C0149514
is_a: HP:0012387 ! Bronchitis
created_by: peter
creation_date: 2013-11-07T07:27:42Z

[Term]
id: HP:0012389
name: Appendicular hypotonia
def: "Muscular hypotonia of one or more limbs." [HPO:probinson]
xref: UMLS:C4022919
is_a: HP:0001252 ! Muscular hypotonia
created_by: peter
creation_date: 2013-11-07T07:31:51Z

[Term]
id: HP:0012390
name: Anal fissure
def: "A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus." [HPO:probinson]
synonym: "Anal erosion" RELATED []
xref: MSH:D005401
xref: SNOMEDCT_US:20928004
xref: SNOMEDCT_US:30037006
xref: UMLS:C0016167
is_a: HP:0004378 ! Abnormality of the anus
created_by: peter
creation_date: 2013-11-07T07:36:49Z

[Term]
id: HP:0012391
name: Hyporeflexia of upper limbs
def: "Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson]
xref: UMLS:C1836835
is_a: HP:0001265 ! Hyporeflexia
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: peter
creation_date: 2013-11-07T07:42:49Z

[Term]
id: HP:0012392
name: Jaw hyporeflexia
def: "Reduced intensity of muscle tendon reflexes in jaw." [HPO:probinson]
comment: The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed.
synonym: "Mandibular hyporeflexia" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022918
is_a: HP:0001265 ! Hyporeflexia
is_a: HP:0045037 ! Abnormality of jaw muscles
created_by: peter
creation_date: 2013-11-07T07:43:29Z

[Term]
id: HP:0012393
name: Allergy
def: "An allergy is an immune response or reaction to substances that are usually not harmful." [HPO:probinson]
synonym: "Allergy" EXACT layperson []
xref: MSH:D006967
xref: SNOMEDCT_US:419076005
xref: UMLS:C1527304
is_a: HP:0100326 ! Immunologic hypersensitivity
created_by: peter
creation_date: 2013-11-07T07:47:22Z

[Term]
id: HP:0012394
name: Iodine contrast allergy
def: "Allergy to iodine contrast media used in radiological studies." [HPO:probinson]
xref: UMLS:C4022917
is_a: HP:0012393 ! Allergy
created_by: peter
creation_date: 2013-11-07T07:49:32Z

[Term]
id: HP:0012395
name: Seasonal allergy
def: "An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction." [HPO:probinson]
synonym: "Seasonal allergy" EXACT layperson []
xref: MSH:D006255
xref: SNOMEDCT_US:21719001
xref: SNOMEDCT_US:300910009
xref: SNOMEDCT_US:367498001
xref: SNOMEDCT_US:444316004
xref: UMLS:C0018621
is_a: HP:0012393 ! Allergy
created_by: peter
creation_date: 2013-11-07T07:51:48Z

[Term]
id: HP:0012396
name: Biliary dyskinesia
def: "A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction." [HPO:probinson, pmid:12095476]
xref: MSH:D001657
xref: SNOMEDCT_US:197432008
xref: UMLS:C0005416
is_a: HP:0012439 ! Abnormal biliary tract physiology
created_by: peter
creation_date: 2013-11-07T07:56:55Z

[Term]
id: HP:0012397
name: Aortic atherosclerotic lesion
def: "The presence of atheromas or atherosclerotic plaques in the aorta." [HPO:probinson, pmid:16818829]
synonym: "Aortic atherosclerosis" BROAD []
synonym: "Atherosclerosis of the aorta" EXACT []
synonym: "Atherosclerotic changes of aorta" EXACT []
synonym: "Plaque build-up in aorta artery" BROAD [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:81817003
xref: UMLS:C0155733
is_a: HP:0001679 ! Abnormal aortic morphology
is_a: HP:0002621 ! Atherosclerosis
created_by: peter
creation_date: 2013-11-07T08:04:30Z

[Term]
id: HP:0012398
name: Peripheral edema
def: "An abnormal accumulation of interstitial fluid in the soft tissues of the limbs." [HPO:probinson]
xref: SNOMEDCT_US:271809000
xref: SNOMEDCT_US:82014009
xref: UMLS:C0085649
is_a: HP:0000969 ! Edema
created_by: peter
creation_date: 2013-11-08T08:09:45Z

[Term]
id: HP:0012399
name: Pressure ulcer
def: "A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips." [HPO:probinson]
comment: Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound.
synonym: "Bedsore" EXACT layperson []
synonym: "Decubitus Ulcer" EXACT []
synonym: "Pressure Sore" EXACT layperson []
synonym: "Pressure ulcer" EXACT layperson []
xref: MSH:D003668
xref: SNOMEDCT_US:399912005
xref: SNOMEDCT_US:420226006
xref: UMLS:C0011127
is_a: HP:0200042 ! Skin ulcer
created_by: peter
creation_date: 2013-11-08T08:49:52Z

[Term]
id: HP:0012400
name: Abnormal aldolase level
def: "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate." [HPO:probinson]
comment: The reaction catalyzed by aldolase is a component of the glycolysis pathway.
xref: UMLS:C4022916
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: peter
creation_date: 2013-11-09T03:35:35Z

[Term]
id: HP:0012401
name: Abnormal urine alpha-ketoglutarate concentration
def: "A deviation from normal of the concentration of 2-oxoglutaric acid in the urine." [HPO:probinson]
comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid.
synonym: "Abnormal urinary 2-oxoglutarate level" EXACT []
synonym: "Abnormality of urine alpha ketoglutarate concentration" EXACT []
xref: UMLS:C4020902
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2013-11-09T03:45:40Z

[Term]
id: HP:0012402
name: Increased urine alpha-ketoglutarate concentration
def: "A greater than normal concentration of 2-oxoglutaric acid in the urine." [HPO:probinson]
comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid.
synonym: "Elevated urinary 2-oxoglutarate" EXACT []
synonym: "Increased urine alpha-ketoglutarate concentration" EXACT layperson []
xref: UMLS:C4022915
is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration
created_by: peter
creation_date: 2013-11-09T03:48:37Z

[Term]
id: HP:0012403
name: Decreased urine alpha-ketoglutarate concentration
def: "A lower than normal concentration of 2-oxoglutaric acid in the urine." [HPO:probinson]
comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid.
synonym: "Decreased urinary 2-oxoglutarate" EXACT []
xref: UMLS:C4022914
is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration
created_by: peter
creation_date: 2013-11-09T03:49:45Z

[Term]
id: HP:0012404
name: Abnormal urine citrate concentration
def: "A deviation from normal of the concentration of citrate(3-) in the urine." [HPO:probinson]
synonym: "Abnormal urine citrate concentration" EXACT layperson []
synonym: "Abnormal urine citric acid concentration" EXACT []
xref: UMLS:C4022913
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2013-11-09T03:51:30Z

[Term]
id: HP:0012405
name: Hypocitraturia
def: "A lower than normal concentration of citrate(3-) in the urine." [HPO:probinson]
synonym: "Decreased urine citrate concentration" EXACT []
xref: UMLS:C2673444
is_a: HP:0012404 ! Abnormal urine citrate concentration
created_by: peter
creation_date: 2013-11-09T03:54:41Z

[Term]
id: HP:0012406
name: Hypercitraturia
def: "A greater than normal concentration of citrate(3-) in the urine." [HPO:probinson]
synonym: "Increased urine citrate concentration" EXACT []
xref: UMLS:C4021090
is_a: HP:0012404 ! Abnormal urine citrate concentration
created_by: peter
creation_date: 2013-11-09T03:56:26Z

[Term]
id: HP:0012407
name: Scissor gait
def: "A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use." [HPO:probinson]
comment: Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy.
synonym: "Scissor gait" EXACT layperson []
synonym: "Scissor walk" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Scissors gait" EXACT layperson [HPO:skoehler]
xref: MSH:D020233
xref: SNOMEDCT_US:22090007
xref: UMLS:C0231698
is_a: HP:0031958 ! Spastic paraparetic gait
created_by: peter
creation_date: 2013-11-09T04:15:36Z

[Term]
id: HP:0012408
name: Medullary nephrocalcinosis
def: "The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)." [ORDCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:236447005
xref: UMLS:C0403477
is_a: HP:0000121 ! Nephrocalcinosis
created_by: peter
creation_date: 2013-11-10T10:45:27Z

[Term]
id: HP:0012409
name: Cortical nephrocalcinosis
def: "The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla)." [HPO:probinson]
xref: SNOMEDCT_US:236446001
xref: UMLS:C0403476
is_a: HP:0000121 ! Nephrocalcinosis
created_by: peter
creation_date: 2013-11-10T11:03:33Z

[Term]
id: HP:0012410
name: Pure red cell aplasia
def: "A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction." [HPO:probinson]
comment: Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes.
synonym: "Red cell aplasia" EXACT []
xref: MSH:D012010
xref: SNOMEDCT_US:50715003
xref: UMLS:C0034902
is_a: HP:0012131 ! Abnormal number of erythroid precursors
created_by: peter
creation_date: 2013-11-10T11:36:59Z

[Term]
id: HP:0012411
name: Premature pubarche
def: "The onset of growth of pubic hair at an earlier age than normal." [HPO:probinson]
synonym: "Premature pubic hair growth" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:237815000
xref: UMLS:C0342541
is_a: HP:0000826 ! Precocious puberty
created_by: peter
creation_date: 2013-11-10T11:50:16Z

[Term]
id: HP:0012412
name: Premature adrenarche
def: "Onset of adrenarche at an earlier age than usual." [HPO:probinson]
comment: Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). {xref="PMID:10414639"}
xref: SNOMEDCT_US:103021001
xref: UMLS:C0342546
is_a: HP:0100000 ! Early onset of sexual maturation
created_by: peter
creation_date: 2013-11-10T11:58:02Z

[Term]
id: HP:0012413
name: Notched primary central incisor
def: "The presence of a V-shaped indentation (notch) in the primary central incisor." [HPO:probinson]
synonym: "Hutchinson's incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hutchinson's sign" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hutchinson's teeth" RELATED []
synonym: "Hutchinson-boeck teeth" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Notched front baby tooth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Notched front deciduous tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Notched front primary tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Syphilitic primary incisor" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D013590
xref: SNOMEDCT_US:410500004
xref: SNOMEDCT_US:86443005
xref: UMLS:C0020186
xref: UMLS:C1444627
xref: UMLS:C4022912
is_a: HP:0011063 ! Abnormality of incisor morphology
created_by: peter
creation_date: 2013-11-10T12:07:34Z

[Term]
id: HP:0012414
name: Duodenal atrophy
def: "Wasting or decrease in size of all or part of the duodenum." [HPO:probinson]
xref: UMLS:C4022911
is_a: HP:0002246 ! Abnormality of the duodenum
created_by: peter
creation_date: 2013-11-10T12:20:19Z

[Term]
id: HP:0012415
name: Abnormal blood gas level
def: "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood." [HPO:probinson]
synonym: "Abnormal blood gas level" EXACT layperson []
xref: SNOMEDCT_US:312391003
xref: UMLS:C0476337
is_a: HP:0002795 ! Functional respiratory abnormality
created_by: peter
creation_date: 2013-11-10T04:59:20Z

[Term]
id: HP:0012416
name: Hypercapnia
def: "Abnormally elevated blood carbon dioxide (CO2) level." [HPO:probinson]
synonym: "High blood carbon dioxide level" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hypercarbia" EXACT []
xref: MSH:D006935
xref: SNOMEDCT_US:29596007
xref: UMLS:C0020440
is_a: HP:0500164 ! Abnormal blood carbon dioxide level
created_by: peter
creation_date: 2013-11-10T05:04:49Z

[Term]
id: HP:0012417
name: Hypocapnia
def: "Abnormally reduced blood carbon dioxide (CO2) level." [HPO:probinson]
synonym: "Hypocarbia" EXACT [https://en.wikipedia.org/wiki/hypocapnia, ORCID:0000-0001-5208-3432]
synonym: "Reduced carbon dioxide in the blood" EXACT layperson [https://en.wikipedia.org/wiki/hypocapnia, ORCID:0000-0001-5208-3432]
xref: MSH:D016857
xref: SNOMEDCT_US:61031008
xref: UMLS:C0085383
is_a: HP:0500164 ! Abnormal blood carbon dioxide level
created_by: peter
creation_date: 2013-11-10T05:06:10Z

[Term]
id: HP:0012418
name: Hypoxemia
def: "An abnormally low level of blood oxygen." [HPO:probinson]
comment: Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value.
synonym: "Low blood oxygen level" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D000860
xref: SNOMEDCT_US:389087006
xref: UMLS:C0700292
is_a: HP:0500165 ! Abnormal blood oxygen level
created_by: peter
creation_date: 2013-11-10T05:07:07Z

[Term]
id: HP:0012419
name: Hyperoxemia
def: "An abnormally high level of blood oxygen." [HPO:probinson]
comment: Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value.
xref: UMLS:C4022910
is_a: HP:0500165 ! Abnormal blood oxygen level
created_by: peter
creation_date: 2013-11-10T05:09:04Z

[Term]
id: HP:0012420
name: Meconium stained amniotic fluid
def: "Amniotic fluid containing the earliest stools of a mammalian infant." [HPO:probinson]
comment: Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome.
synonym: "Meconium staining of amniotic fluid" EXACT []
synonym: "Meconium-stained amniotic fluid" EXACT []
xref: SNOMEDCT_US:168092006
xref: SNOMEDCT_US:249135009
xref: UMLS:C0426209
is_a: HP:0001560 ! Abnormality of the amniotic fluid
created_by: peter
creation_date: 2013-11-10T06:01:40Z

[Term]
id: HP:0012421
name: Congenital absence of foreskin
def: "Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis." [HPO:probinson]
comment: Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately.
synonym: "Absent foreskin" EXACT []
synonym: "Aposthia" EXACT []
xref: SNOMEDCT_US:300519001
xref: UMLS:C0577242
is_a: HP:0100587 ! Abnormality of the preputium
created_by: peter
creation_date: 2013-11-10T06:17:21Z

[Term]
id: HP:0012422
name: Villous hypertrophy of choroid plexus
def: "Overgrowth of the choroid plexus." [HPO:probinson, pmid:16523225]
comment: The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF.
synonym: "Choroid plexus hypertrophy" EXACT []
synonym: "Diffuse villous hypertrophy of choroid plexus" RELATED []
xref: UMLS:C4020728
xref: UMLS:C4021089
is_a: HP:0007376 ! Abnormality of the choroid plexus
created_by: peter
creation_date: 2013-11-11T07:50:37Z

[Term]
id: HP:0012423
name: Colonic inertia
def: "The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days." [HPO:probinson, pmid:23449085]
xref: MSH:D003248
xref: UMLS:C1257861
is_a: HP:0012700 ! Abnormal large intestine physiology
created_by: peter
creation_date: 2013-11-11T08:04:46Z

[Term]
id: HP:0012424
name: Chorioretinitis
def: "An inflammation of the choroid and retina." [ORCID:0000-0001-5208-3432, PMID:16196117]
comment: Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina.
xref: MSH:D002825
xref: SNOMEDCT_US:46627006
xref: UMLS:C0008513
is_a: HP:0000532 ! Abnormal chorioretinal morphology
created_by: peter
creation_date: 2013-11-11T08:10:29Z

[Term]
id: HP:0012425
name: Stercoral ulcer
def: "An ulcer of the colon due to pressure and irritation from retained fecal masses." [ORCID:0000-0001-5208-3432, pmid:7065551]
comment: Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area.
synonym: "Colon ulcer" BROAD layperson [ORCID:0000-0001-6908-9849]
synonym: "Recto-sigmoid colon stercoral ulcer" RELATED []
xref: SNOMEDCT_US:235766003
xref: SNOMEDCT_US:38084005
xref: SNOMEDCT_US:46040000
xref: UMLS:C0267491
xref: UMLS:C0333302
is_a: HP:0002250 ! Abnormal large intestine morphology
created_by: peter
creation_date: 2013-11-12T10:28:18Z

[Term]
id: HP:0012426
name: Optic disc drusen
def: "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [HPO:probinson, pmid:22787500, pmid:23658477]
comment: Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema).
xref: MSH:D015594
xref: SNOMEDCT_US:33629003
xref: UMLS:C0029128
is_a: HP:0011510 ! Drusen
is_a: HP:0012795 ! Abnormality of the optic disc
created_by: peter
creation_date: 2013-11-12T10:36:06Z

[Term]
id: HP:0012427
name: Excessive femoral anteversion
def: "An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward." [HPO:probinson, ORCID:0000-0001-5208-3432]
comment: Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood.
xref: UMLS:C4022909
is_a: HP:0002823 ! Abnormality of femur morphology
created_by: peter
creation_date: 2013-11-12T10:51:07Z

[Term]
id: HP:0012428
name: Prominent calcaneus
def: "Protruding heel bone, or calcaneus." [ORCID:0000-0001-5208-3432]
synonym: "Prominent heel bone" EXACT layperson []
xref: UMLS:C4021088
is_a: HP:0008364 ! Abnormality of the calcaneus
created_by: peter
creation_date: 2013-11-12T11:04:49Z

[Term]
id: HP:0012429
name: Aplasia/Hypoplasia of the cerebral white matter
def: "Absence or underdevelopment of the cerebral white matter." [HPO:probinson]
synonym: "Absent/small cerebral white matter" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped cerebral white matter" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021844
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: peter
creation_date: 2013-11-13T07:39:37Z

[Term]
id: HP:0012430
name: Cerebral white matter hypoplasia
def: "Underdevelopment of the cerebral white matter." [HPO:probinson]
synonym: "Paucity of cerebral white matter" RELATED []
xref: UMLS:C4020727
xref: UMLS:C4022908
is_a: HP:0012429 ! Aplasia/Hypoplasia of the cerebral white matter
created_by: peter
creation_date: 2013-11-13T07:42:02Z

[Term]
id: HP:0012431
name: Episodic fatigue
def: "Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
xref: UMLS:C4022907
is_a: HP:0012378 ! Fatigue
created_by: peter
creation_date: 2013-11-13T07:45:40Z

[Term]
id: HP:0012432
name: Chronic fatigue
def: "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432]
comment: Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities.
synonym: "Chronic extreme exhaustion" EXACT layperson []
synonym: "Chronic fatigue" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C0518656
is_a: HP:0012378 ! Fatigue
created_by: peter
creation_date: 2013-11-13T07:49:08Z

[Term]
id: HP:0012433
name: Abnormal social behavior
def: "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson]
synonym: "Abnormal social behavior" EXACT layperson []
synonym: "Abnormal social behaviour" EXACT layperson []
synonym: "Abnormal social interactions" RELATED layperson []
xref: UMLS:C4020726
xref: UMLS:C4021087
is_a: HP:0000708 ! Behavioral abnormality
created_by: peter
creation_date: 2013-11-23T08:37:01Z

[Term]
id: HP:0012434
name: Delayed social development
def: "A failure to meet one or more age-related milestones of social behavior." [HPO:probinson]
comment: This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of 3 months, a child smiles in response to social interaction, at the age of 7 months, a child responds to the facial expressions of others, and at the age of 12 months a child is shy around strangers.
synonym: "Delayed social development" EXACT layperson []
xref: UMLS:C4022906
is_a: HP:0012433 ! Abnormal social behavior
is_a: HP:0012758 ! Neurodevelopmental delay
created_by: peter
creation_date: 2013-11-23T08:40:29Z

[Term]
id: HP:0012435
name: Ventral shortening of foreskin
def: "Reduction in length of the ventral (lower) skin of prepuce of penis." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022905
is_a: HP:0100587 ! Abnormality of the preputium
created_by: peter
creation_date: 2013-11-23T08:45:20Z

[Term]
id: HP:0012436
name: Nonocclusive coronary artery atherosclerosis
def: "Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." [ORCID:0000-0001-5208-3432]
synonym: "Non-occlusive coronary artery disease" EXACT []
synonym: "Non-occlusive coronary artery stenosis" RELATED []
synonym: "Nonocclusive coronary artery disease" RELATED []
synonym: "Nonocclusive coronary artery stenosis" RELATED []
xref: UMLS:C4020724
xref: UMLS:C4020725
is_a: HP:0001677 ! Coronary artery atherosclerosis
created_by: peter
creation_date: 2013-11-23T08:50:05Z

[Term]
id: HP:0012437
name: Abnormal gallbladder morphology
def: "A structural anomaly of the gallbladder." [HPO:probinson]
synonym: "Abnormal gallbladder morphology" EXACT layperson []
synonym: "Abnormal shape of gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022904
is_a: HP:0005264 ! Abnormality of the gallbladder
created_by: peter
creation_date: 2013-11-23T01:13:40Z

[Term]
id: HP:0012438
name: Abnormal gallbladder physiology
def: "A functional anomaly of the gallbladder." [HPO:probinson]
xref: UMLS:C4022903
is_a: HP:0005264 ! Abnormality of the gallbladder
created_by: peter
creation_date: 2013-11-23T01:17:00Z

[Term]
id: HP:0012439
name: Abnormal biliary tract physiology
def: "A functional abnormality of the biliary tree." [HPO:probinson]
xref: UMLS:C4022902
is_a: HP:0001080 ! Biliary tract abnormality
created_by: peter
creation_date: 2013-11-23T02:14:51Z

[Term]
id: HP:0012440
name: Abnormal biliary tract morphology
def: "A structural abnormality of the biliary tree." [HPO:probinson]
synonym: "Anomaly of the biliary tract" EXACT []
xref: UMLS:C4021086
is_a: HP:0001080 ! Biliary tract abnormality
created_by: peter
creation_date: 2013-11-23T02:15:33Z

[Term]
id: HP:0012441
name: Sphincter of Oddi dyskinesia
def: "Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum." [HPO:probinson]
comment: The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis.
synonym: "Sphincter of Oddi dysfunction" RELATED []
xref: MSH:D046628
xref: SNOMEDCT_US:430887001
xref: UMLS:C0878588
xref: UMLS:C4048750
is_a: HP:0012396 ! Biliary dyskinesia
created_by: peter
creation_date: 2013-11-23T02:21:59Z

[Term]
id: HP:0012442
name: Gallbladder dyskinesia
def: "Reduced motility of the gallbladder with reduced emptying fraction." [HPO:probinson, pmid:12095476, pmid:17761125]
comment: Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent.
xref: MSH:D001657
xref: UMLS:C1449631
is_a: HP:0012396 ! Biliary dyskinesia
created_by: peter
creation_date: 2013-11-23T02:28:07Z

[Term]
id: HP:0012443
name: Abnormality of brain morphology
def: "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." [HPO:probinson]
synonym: "Abnormal shape of brain" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the brain" EXACT layperson []
xref: UMLS:C4021085
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
created_by: peter
creation_date: 2013-11-23T02:38:00Z

[Term]
id: HP:0012444
name: Brain atrophy
def: "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson]
synonym: "Brain degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Brain wasting" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:278849000
xref: SNOMEDCT_US:418143002
xref: SNOMEDCT_US:52522001
xref: UMLS:C0154671
xref: UMLS:C0235946
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
is_a: HP:0012443 ! Abnormality of brain morphology
created_by: peter
creation_date: 2013-11-23T02:46:15Z

[Term]
id: HP:0012446
name: Low CSF 5-methyltetrahydrofolate
def: "A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite." [HPO:probinson]
synonym: "Cerebral folate deficiency" RELATED []
xref: MSH:C567791
xref: SNOMEDCT_US:711403001
xref: UMLS:C2751584
xref: UMLS:C4022901
is_a: HP:0025454 ! Abnormal CSF metabolite level
created_by: peter
creation_date: 2013-11-23T03:40:41Z

[Term]
id: HP:0012447
name: Abnormal myelination
def: "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [HPO:probinson, MP:0000920]
xref: UMLS:C1857704
is_a: HP:0012639 ! Abnormality of nervous system morphology
created_by: peter
creation_date: 2013-11-23T03:45:58Z

[Term]
id: HP:0012448
name: Delayed myelination
def: "Delayed myelination." [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:135810007
xref: UMLS:C1277241
is_a: HP:0012447 ! Abnormal myelination
created_by: peter
creation_date: 2013-11-23T03:47:56Z

[Term]
id: HP:0012449
name: Sacroiliac joint synovitis
def: "Inflammation of the synovial membrane of the sacroiliac joint." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022900
is_a: HP:0100781 ! Abnormality of the sacroiliac joint
created_by: peter
creation_date: 2013-11-23T03:54:32Z

[Term]
id: HP:0012450
name: Chronic constipation
def: "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432]
synonym: "Chronic constipation" EXACT layperson []
synonym: "Infrequent bowel movements" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:236069009
xref: UMLS:C0401149
is_a: HP:0002019 ! Constipation
created_by: peter
creation_date: 2013-11-23T04:03:43Z

[Term]
id: HP:0012451
name: Acute constipation
def: "Constipation of sudden onset and lasting for less than three months." [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:197119006
xref: UMLS:C0401148
is_a: HP:0002019 ! Constipation
created_by: peter
creation_date: 2013-11-23T04:06:37Z

[Term]
id: HP:0012452
name: Restless legs
def: "A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia)." [HPO:probinson]
comment: Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected persons. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence.
synonym: "Restless legs syndrome" RELATED []
synonym: "Willis-Ekbom disease" RELATED layperson []
synonym: "Wittmaack-Ekbom syndrome" RELATED []
xref: MSH:D012148
xref: SNOMEDCT_US:32914008
xref: UMLS:C0035258
is_a: HP:0002360 ! Sleep disturbance
created_by: peter
creation_date: 2013-11-23T07:42:59Z

[Term]
id: HP:0012453
name: Bilateral wrist flexion contracture
def: "A chronic loss of wrist joint motion on the right and left sides." [HPO:probinson]
synonym: "Bilateral wrist contracture" RELATED []
xref: UMLS:C4020723
xref: UMLS:C4022899
is_a: HP:0001239 ! Wrist flexion contracture
created_by: peter
creation_date: 2013-11-23T07:58:50Z

[Term]
id: HP:0012454
name: Unilateral wrist flexion contracture
def: "A chronic loss of wrist joint motion on one side only." [HPO:probinson]
synonym: "Unilateral wrist contracture" RELATED []
xref: UMLS:C4020722
xref: UMLS:C4022898
is_a: HP:0001239 ! Wrist flexion contracture
created_by: peter
creation_date: 2013-11-23T07:59:39Z

[Term]
id: HP:0012455
name: obsolete Large artery calcification
is_obsolete: true
replaced_by: HP:0003207

[Term]
id: HP:0012456
name: Medial arterial calcification
def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries." [HPO:probinson]
comment: Medial arterial calcification causes stiffening and decreased compliance of the affected arteries.
xref: UMLS:C4022896
is_a: HP:0003207 ! Arterial calcification
created_by: peter
creation_date: 2013-11-24T10:50:45Z

[Term]
id: HP:0012457
name: Medial calcification of medium-sized arteries
def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries." [HPO:probinson]
xref: UMLS:C4022895
is_a: HP:0012456 ! Medial arterial calcification
created_by: peter
creation_date: 2013-11-24T11:11:13Z

[Term]
id: HP:0012458
name: Medial calcification of small arteries
def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries." [HPO:probinson]
comment: The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells.
xref: UMLS:C4022894
is_a: HP:0012456 ! Medial arterial calcification
created_by: peter
creation_date: 2013-11-24T11:13:13Z

[Term]
id: HP:0012459
name: Hypnic headache
def: "A headache disorder that occurs exclusively at night, waking the affected individual from sleep." [HPO:probinson, pmid:20585827, pmid:23832130]
comment: Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes.
synonym: "Alarm clock headache" EXACT layperson []
xref: MSH:D051270
xref: SNOMEDCT_US:122711000119109
xref: UMLS:C0752150
is_a: HP:0002315 ! Headache
created_by: peter
creation_date: 2013-11-24T11:20:18Z

[Term]
id: HP:0012460
name: Dysmorphic inferior cerebellar vermis
def: "A structural anomaly of the inferior portion of the vermis of cerebellum." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022893
is_a: HP:0002334 ! Abnormality of the cerebellar vermis
created_by: peter
creation_date: 2013-11-24T11:59:06Z

[Term]
id: HP:0012461
name: Bacteriuria
def: "The presence of bacteria in the urine." [ORCID:0000-0001-5208-3432]
comment: The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection.
synonym: "Bacteria in urine" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "High urine bacteria" EXACT layperson []
xref: MSH:D001437
xref: SNOMEDCT_US:61373006
xref: UMLS:C0004659
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2013-11-24T12:15:47Z

[Term]
id: HP:0012462
name: Chin myoclonus
def: "Involuntary and irregular twitches of the chin." [HPO:probinson, pmid:16816905]
synonym: "Chin spasms" RELATED []
synonym: "Geniospasm" EXACT []
xref: MSH:C537682
xref: UMLS:C1860972
is_a: HP:0001336 ! Myoclonus
created_by: peter
creation_date: 2013-11-24T12:26:38Z

[Term]
id: HP:0012463
name: Elevated transferrin saturation
def: "An above normal level of saturation of serum transferrin with iron." [HPO:probinson]
comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation.
xref: UMLS:C4022892
is_a: HP:0040135 ! Abnormal transferrin saturation
created_by: peter
creation_date: 2013-11-24T12:46:56Z

[Term]
id: HP:0012464
name: Decreased transferrin saturation
def: "A below normal level of saturation of serum transferrin with iron." [HPO:probinson]
comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation.
xref: UMLS:C0919785
is_a: HP:0040135 ! Abnormal transferrin saturation
created_by: peter
creation_date: 2013-11-24T12:51:51Z

[Term]
id: HP:0012465
name: Elevated hepatic iron concentration
def: "An increased level of iron in liver tissues." [HPO:probinson, pmid:10922422, pmid:14668426]
comment: This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging.
synonym: "Increased iron concentration in liver" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased liver iron level" EXACT [HPO:skoehler]
xref: UMLS:C4022891
is_a: HP:0040134 ! Abnormal hepatic iron concentration
created_by: peter
creation_date: 2013-11-24T12:54:57Z

[Term]
id: HP:0012466
name: Chronic respiratory acidosis
def: "Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L)." [HPO:probinson]
xref: SNOMEDCT_US:8764008
xref: UMLS:C0268048
is_a: HP:0005972 ! Respiratory acidosis
is_a: HP:0012468 ! Chronic acidosis
created_by: peter
creation_date: 2013-11-24T01:11:15Z

[Term]
id: HP:0012467
name: Acute respiratory acidosis
def: "Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35)." [HPO:probinson]
xref: SNOMEDCT_US:70644008
xref: UMLS:C0268047
is_a: HP:0005972 ! Respiratory acidosis
created_by: peter
creation_date: 2013-11-24T01:11:51Z

[Term]
id: HP:0012468
name: Chronic acidosis
def: "Longstanding abnormal acid accumulation or depletion of base." [ORCID:0000-0001-5208-3432]
xref: UMLS:C1735903
is_a: HP:0001941 ! Acidosis
created_by: peter
creation_date: 2013-11-24T01:16:31Z

[Term]
id: HP:0012469
name: Infantile spasms
def: "Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig]
xref: UMLS:C3887898
is_a: HP:0011097 ! Epileptic spasms
created_by: peter
creation_date: 2013-11-26T05:36:45Z

[Term]
id: HP:0012470
name: Setting-sun eye phenomenon
def: "An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid." [HPO:probinson, pmid:17030938]
comment: Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure.
synonym: "Eyes fixed downward" RELATED layperson []
synonym: "Setting-sun eye phenomenon" EXACT layperson []
synonym: "Sun setting eyes" EXACT layperson []
synonym: "Sunsetting eye" EXACT layperson []
xref: SNOMEDCT_US:63342001
xref: UMLS:C0423128
xref: UMLS:C4020721
is_a: HP:0000597 ! Ophthalmoparesis
created_by: peter
creation_date: 2013-11-26T05:40:01Z

[Term]
id: HP:0012471
name: Thick vermilion border
def: "Increased width of the skin of vermilion border region of upper lip." [HPO:probinson]
synonym: "Full lips" EXACT layperson []
synonym: "Increased volume of lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased volume of lip vermillion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Plump lips" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Prominent lips" EXACT layperson [HPO:skoehler]
synonym: "Thick lips" EXACT layperson []
xref: UMLS:C1836543
is_a: HP:0000159 ! Abnormal lip morphology
created_by: peter
creation_date: 2013-11-26T09:07:51Z

[Term]
id: HP:0012472
name: Eclabion
def: "A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson]
synonym: "Eclabium" EXACT []
synonym: "Everted lips" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Outward turned lips" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C3550430
is_a: HP:0000159 ! Abnormal lip morphology
created_by: peter
creation_date: 2013-11-26T10:20:23Z

[Term]
id: HP:0012473
name: Tongue atrophy
def: "Wasting of the tongue." [ORCID:0000-0001-5208-3432]
synonym: "Atrophy of the tongue" EXACT []
synonym: "Lingual atrophy" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lingual wasting" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wasting of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:249382006
xref: SNOMEDCT_US:50805004
xref: UMLS:C0241423
xref: UMLS:C0426494
is_a: HP:0030809 ! Abnormal tongue morphology
created_by: peter
creation_date: 2013-11-26T10:32:31Z

[Term]
id: HP:0012474
name: Carotid artery occlusion
def: "Complete obstruction of a carotid artery." [ORCID:0000-0001-5208-3432]
comment: Carotid artery occlusion is usually caused by caused by atherosclerosis.
synonym: "Obstructed carotid artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:266254007
xref: SNOMEDCT_US:69798007
xref: UMLS:C0265101
is_a: HP:0005344 ! Abnormal carotid artery morphology
created_by: peter
creation_date: 2013-11-27T10:11:40Z

[Term]
id: HP:0012475
name: Decreased circulating level of specific antibody
def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism." [HPO:probinson, pmid:17100769]
synonym: "Decreased specific antibody in blood" EXACT []
synonym: "Specific antibody deficiency" EXACT []
xref: SNOMEDCT_US:234556002
xref: UMLS:C0398711
is_a: HP:0004313 ! Decreased antibody level in blood
is_a: HP:0031404 ! Impaired antigen-specific response
created_by: peter
creation_date: 2013-11-27T10:21:15Z

[Term]
id: HP:0012476
name: Specific pneumococcal antibody deficiency
def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci." [HPO:probinson]
xref: UMLS:C4022890
is_a: HP:0012475 ! Decreased circulating level of specific antibody
created_by: peter
creation_date: 2013-11-27T10:28:04Z

[Term]
id: HP:0012477
name: Vocal tremor
def: "A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability." [HPO:probinson, pmid:22505778]
synonym: "Shakey voice" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Vocal tremor" EXACT layperson []
xref: UMLS:C4022889
is_a: HP:0002345 ! Action tremor
created_by: peter
creation_date: 2013-11-28T07:11:37Z

[Term]
id: HP:0012478
name: Temporomandibular joint ankylosis
def: "Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening." [ORCID:0000-0001-5208-3432]
synonym: "Adhesion of the temporomandibular joint" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Ankylosis of temporomandibular joint" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Freezing of jaw joint" EXACT layperson []
synonym: "Freezing of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Rigidity of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Temporomandibular joint fusion" EXACT []
xref: MSH:C536957
xref: SNOMEDCT_US:298231004
xref: SNOMEDCT_US:50603008
xref: SNOMEDCT_US:91866004
xref: UMLS:C0575010
xref: UMLS:C0685924
xref: UMLS:C2931375
is_a: HP:0010754 ! Abnormality of the temporomandibular joint
created_by: peter
creation_date: 2013-11-28T07:24:24Z

[Term]
id: HP:0012479
name: Temporomandibular joint crepitus
def: "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound." [HPO:probinson]
synonym: "Jaw joint clicking sound" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Jaw joint crepitus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Jaw joint grating sound" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Jaw joint noise" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Jaw joint popping sound" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Jaw joint sounds" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Temporomandibular joint clicking sound" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Temporomandibular joint grating sound" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Temporomandibular joint noise" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Temporomandibular joint popping sound" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Temporomandibular joint sounds" BROAD [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:298377005
xref: UMLS:C0575154
xref: UMLS:C4280313
xref: UMLS:C4280314
xref: UMLS:C4280315
is_a: HP:0010754 ! Abnormality of the temporomandibular joint
created_by: peter
creation_date: 2013-11-28T07:28:13Z

[Term]
id: HP:0012480
name: Abnormality of cerebral veins
def: "An anomaly of cerebral veins." [HPO:probinson]
xref: UMLS:C4022888
is_a: HP:0100659 ! Abnormality of the cerebral vasculature
created_by: peter
creation_date: 2013-11-28T08:01:32Z

[Term]
id: HP:0012481
name: Cerebral venous angioma
def: "A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system." [HPO:probinson, pmid:8770251]
comment: DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.
synonym: "Developmental Venous Anomaly" EXACT []
xref: MSH:D020787
xref: UMLS:C1956261
is_a: HP:0012480 ! Abnormality of cerebral veins
created_by: peter
creation_date: 2013-11-28T08:03:08Z

[Term]
id: HP:0012482
name: Frontal venous angioma
def: "A venous angioma of the frontal lobe of the brain." [HPO:probinson]
xref: UMLS:C4022887
is_a: HP:0012481 ! Cerebral venous angioma
created_by: peter
creation_date: 2013-11-28T08:12:07Z

[Term]
id: HP:0012483
name: Abnormal alpha granules
def: "Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury." [DDD:wouwehand, pmid:8467233]
comment: This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen.
xref: UMLS:C4022886
is_a: HP:0011883 ! Abnormal platelet granules
created_by: peter
creation_date: 2013-11-29T07:44:49Z

[Term]
id: HP:0012484
name: Abnormal dense granules
def: "Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium , histamine and serotonin." [DDD:wouwehand]
comment: This feature can be observed by electron microscopy.
xref: UMLS:C4022885
is_a: HP:0011883 ! Abnormal platelet granules
created_by: peter
creation_date: 2013-11-29T07:48:08Z

[Term]
id: HP:0012485
name: Abnormal surface-connected open canalicular system
def: "An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction." [HPO:probinson, pmid:1760557]
xref: UMLS:C4021840
is_a: HP:0011875 ! Abnormal platelet morphology
created_by: peter
creation_date: 2013-11-29T07:55:15Z

[Term]
id: HP:0012486
name: Myelitis
def: "Inflammation of the spinal cord." [HPO:probinson]
synonym: "Inflammation of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009187
xref: SNOMEDCT_US:41370002
xref: UMLS:C0026975
is_a: HP:0002143 ! Abnormality of the spinal cord
is_a: HP:0012649 ! Increased inflammatory response
created_by: peter
creation_date: 2013-11-29T08:10:12Z

[Term]
id: HP:0012487
name: Cerebellopontine angle arachnoid cyst
def: "An arachnoid cyst located at the margin of the cerebellum and pons." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022884
is_a: HP:0100702 ! Arachnoid cyst
created_by: peter
creation_date: 2013-11-29T09:03:39Z

[Term]
id: HP:0012488
name: Intraventricular arachnoid cyst
def: "An arachnoid cyst located within the ventricular system." [HPO:probinson, pmid:8951893]
comment: Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists.
xref: UMLS:C4022883
is_a: HP:0100702 ! Arachnoid cyst
created_by: peter
creation_date: 2013-11-29T09:08:46Z

[Term]
id: HP:0012489
name: Suprasellar arachnoid cyst
def: "An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards." [HPO:probinson, pmid:21586175]
comment: As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus.
xref: UMLS:C4022882
is_a: HP:0100702 ! Arachnoid cyst
created_by: peter
creation_date: 2013-11-29T09:11:20Z

[Term]
id: HP:0012490
name: Panniculitis
def: "Inflammation of adipose tissue." [HPO:probinson]
comment: Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules.
synonym: "Inflammation of adipose tissue" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Inflammation of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D015434
xref: SNOMEDCT_US:22125009
xref: UMLS:C0030326
is_a: HP:0009124 ! Abnormal adipose tissue morphology
is_a: HP:0012649 ! Increased inflammatory response
created_by: peter
creation_date: 2013-11-29T09:28:11Z

[Term]
id: HP:0012491
name: Abnormal dense tubular system
def: "An anomaly of the intracellular membrane complexes known as the dense tubular system." [DDD:wouwehand, pmid:1322202]
comment: The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form.
xref: UMLS:C4022881
is_a: HP:0011875 ! Abnormal platelet morphology
created_by: peter
creation_date: 2013-11-29T09:35:44Z

[Term]
id: HP:0012492
name: Cerebral artery stenosis
def: "Narrowing or constriction of the inner surface (lumen) of a cerebral artery." [ORCID:0000-0001-5208-3432]
synonym: "Narrowing of a cerebral artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1504438
is_a: HP:0009145 ! Abnormal cerebral artery morphology
created_by: peter
creation_date: 2013-11-30T08:00:55Z

[Term]
id: HP:0012493
name: Middle cerebral artery stenosis
def: "Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery." [HPO:probinson]
xref: SNOMEDCT_US:21290001000004104
xref: UMLS:C1504568
is_a: HP:0012492 ! Cerebral artery stenosis
created_by: peter
creation_date: 2013-11-30T08:04:27Z

[Term]
id: HP:0012494
name: Anterior cerebral artery stenosis
def: "Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery." [HPO:probinson]
xref: UMLS:C1504567
is_a: HP:0012492 ! Cerebral artery stenosis
created_by: peter
creation_date: 2013-11-30T08:06:15Z

[Term]
id: HP:0012495
name: Posterior cerebral artery stenosis
def: "Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery." [HPO:probinson]
xref: UMLS:C1504569
is_a: HP:0012492 ! Cerebral artery stenosis
created_by: peter
creation_date: 2013-11-30T08:07:04Z

[Term]
id: HP:0012496
name: Reduced maximal inspiratory pressure
def: "A decrease in the maximum amount of negative pressure a person can generate during an inhalation." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022880
is_a: HP:0004347 ! Weakness of muscles of respiration
created_by: peter
creation_date: 2013-11-30T08:24:33Z

[Term]
id: HP:0012497
name: Reduced maximal expiratory pressure
def: "A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022879
is_a: HP:0004347 ! Weakness of muscles of respiration
created_by: peter
creation_date: 2013-11-30T08:28:49Z

[Term]
id: HP:0012498
name: Nuchal cord
def: "A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times." [HPO:probinson]
xref: MSH:D053589
xref: SNOMEDCT_US:302929008
xref: UMLS:C0405124
is_a: HP:0001787 ! Abnormal delivery
created_by: peter
creation_date: 2013-11-30T08:32:27Z

[Term]
id: HP:0012499
name: Descending aortic dissection
def: "A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson]
comment: According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery).
synonym: "Type B aortic dissection" EXACT []
xref: UMLS:C4022878
is_a: HP:0002647 ! Aortic dissection
created_by: peter
creation_date: 2013-11-30T08:44:18Z

[Term]
id: HP:0012500
name: Verrucous papule
def: "A wartlike (with multiple small elevated projections) papule." [HPO:probinson]
synonym: "Papillomatous papule" EXACT []
xref: UMLS:C4022877
is_a: HP:0200034 ! Papule
created_by: peter
creation_date: 2013-11-30T09:03:16Z

[Term]
id: HP:0012501
name: Abnormality of the brainstem white matter
def: "An anomaly of the white matter of brainstem." [HPO:probinson]
xref: UMLS:C4022876
is_a: HP:0002363 ! Abnormality of brainstem morphology
created_by: peter
creation_date: 2013-11-30T09:19:46Z

[Term]
id: HP:0012502
name: Abnormality of the internal capsule
def: "An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus." [HPO:probinson]
xref: UMLS:C4022875
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: peter
creation_date: 2013-11-30T09:29:18Z

[Term]
id: HP:0012503
name: Abnormality of the pituitary gland
def: "An anomaly of the pituitary gland." [HPO:probinson]
synonym: "disorder of pituitary gland" EXACT []
xref: MSH:D010900
xref: SNOMEDCT_US:399244003
xref: UMLS:C0032002
is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis
is_a: HP:0012443 ! Abnormality of brain morphology
created_by: peter
creation_date: 2013-11-30T09:34:21Z

[Term]
id: HP:0012504
name: Abnormal size of pituitary gland
def: "A deviation from the normal size of the pituitary gland." [HPO:probinson]
xref: UMLS:C4022874
is_a: HP:0012503 ! Abnormality of the pituitary gland
created_by: peter
creation_date: 2013-11-30T09:36:04Z

[Term]
id: HP:0012505
name: Enlarged pituitary gland
def: "An abnormally increased size of the pituitary gland." [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:237718009
xref: UMLS:C0342422
is_a: HP:0012504 ! Abnormal size of pituitary gland
created_by: peter
creation_date: 2013-11-30T09:36:45Z

[Term]
id: HP:0012506
name: Small pituitary gland
def: "An abnormally decreased size of the pituitary gland." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022873
is_a: HP:0012504 ! Abnormal size of pituitary gland
created_by: peter
creation_date: 2013-11-30T09:37:34Z

[Term]
id: HP:0012507
name: Weakness of orbicularis oculi muscle
def: "Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid." [HPO:probinson]
synonym: "Weakness of orbicularis oculi muscles" EXACT [HPO:skoehler]
xref: UMLS:C1839030
is_a: HP:0001324 ! Muscle weakness
is_a: HP:0030319 ! Weakness of facial musculature
created_by: peter
creation_date: 2013-12-08T08:12:54Z

[Term]
id: HP:0012508
name: Metamorphopsia
def: "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [HPO:probinson]
xref: MSH:D014786
xref: SNOMEDCT_US:42134006
xref: UMLS:C0271185
is_a: HP:0000504 ! Abnormality of vision
created_by: peter
creation_date: 2013-12-08T08:21:46Z

[Term]
id: HP:0012509
name: Reduced thyroxin-binding globulin
def: "An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream." [HPO:probinson]
comment: Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid.
xref: UMLS:C4022872
is_a: HP:0010876 ! Abnormal circulating protein level
created_by: peter
creation_date: 2013-12-08T08:25:46Z

[Term]
id: HP:0012510
name: Extra-axial cerebrospinal fluid accumulation
def: "An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [HPO:probinson, pmid:22327705, pmid:23838695]
synonym: "Extra-axial CSF accumulation" EXACT HP:0045077 []
xref: UMLS:C4022871
is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid
created_by: peter
creation_date: 2013-12-08T08:37:34Z

[Term]
id: HP:0012511
name: Temporal optic disc pallor
def: "A pale yellow discoloration of the temporal (lateral) portion of the optic disc." [HPO:probinson, pmid:19668477]
comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head.
xref: SNOMEDCT_US:247220006
xref: UMLS:C0344299
is_a: HP:0000543 ! Optic disc pallor
created_by: peter
creation_date: 2013-12-08T08:55:48Z

[Term]
id: HP:0012512
name: Diffuse optic disc pallor
def: "A pale yellow discoloration of the entire optic disc." [HPO:probinson, pmid:19668477]
comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head.
xref: UMLS:C4022870
is_a: HP:0000543 ! Optic disc pallor
created_by: peter
creation_date: 2013-12-08T09:02:25Z

[Term]
id: HP:0012513
name: Upper limb pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm." [ORCID:0000-0001-5208-3432]
synonym: "Upper limb pain" EXACT layperson []
xref: SNOMEDCT_US:102556003
xref: UMLS:C0239377
is_a: HP:0009763 ! Limb pain
created_by: peter
creation_date: 2013-12-08T09:07:11Z

[Term]
id: HP:0012514
name: Lower limb pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg." [ORCID:0000-0001-5208-3432]
synonym: "Leg pain" EXACT layperson []
synonym: "Lower limb pain" EXACT layperson []
xref: SNOMEDCT_US:10601006
xref: UMLS:C0023222
is_a: HP:0009763 ! Limb pain
created_by: peter
creation_date: 2013-12-08T09:10:29Z

[Term]
id: HP:0012515
name: Hip flexor weakness
def: "Reduced ability to flex the femur, that is, to pull the knee upward." [ORCID:0000-0001-5208-3432]
comment: Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh.
xref: UMLS:C3279725
is_a: HP:0003749 ! Pelvic girdle muscle weakness
created_by: peter
creation_date: 2013-12-08T09:14:34Z

[Term]
id: HP:0012516
name: Tetralogy of Fallot with pulmonary atresia
def: "An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries." [ORCID:0000-0001-5208-3432, pmid:22368654]
comment: Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA.
xref: SNOMEDCT_US:253513005
xref: UMLS:C0344882
is_a: HP:0001636 ! Tetralogy of Fallot
created_by: peter
creation_date: 2013-12-08T09:44:24Z

[Term]
id: HP:0012517
name: Reduced catalase activity
def: "An abnormally decreased amount of catalase activity." [HPO:probinson]
comment: Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen.
xref: UMLS:C4022869
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: peter
creation_date: 2013-12-09T06:49:18Z

[Term]
id: HP:0012518
name: Abnormal circle of Willis morphology
def: "An anomaly of the circle of Willis, also known as the cerebral arterial circle." [HPO:probinson]
comment: The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries.
synonym: "Abnormality of the cerebral arterial circle" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022868
is_a: HP:0009145 ! Abnormal cerebral artery morphology
created_by: peter
creation_date: 2013-12-09T07:03:02Z

[Term]
id: HP:0012519
name: Hypoplastic posterior communicating artery
def: "Underdeveloped posterior communicating artery." [ORCID:0000-0001-5208-3432]
comment: The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis.
synonym: "Hypoplastic posterior communicating arteries" RELATED []
xref: UMLS:C4020720
is_a: HP:0031772 ! Abnormal posterior circulating artery morphology
created_by: peter
creation_date: 2013-12-09T07:06:12Z

[Term]
id: HP:0012520
name: Perivascular spaces
def: "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery." [ORCID:0000-0001-5208-3432, pmid:17620468, pmid:23867200]
comment: Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences.
synonym: "Dilatation of Virchow-Robin spaces" EXACT []
synonym: "Dilated cerebral perivascular spaces" RELATED []
synonym: "Dilated Virchow-Robin spaces" EXACT []
xref: UMLS:C1853618
xref: UMLS:C4020719
is_a: HP:0100659 ! Abnormality of the cerebral vasculature
created_by: peter
creation_date: 2013-12-09T07:17:47Z

[Term]
id: HP:0012521
name: Optic nerve aplasia
def: "Congenital absence of the optic nerve." [HPO:probinson]
synonym: "Absent optic nerve" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Aplastic optic nerve" EXACT []
xref: UMLS:C4021084
is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve
created_by: peter
creation_date: 2013-12-12T02:15:31Z

[Term]
id: HP:0012522
name: Spider hemangioma
def: "A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released." [HPO:probinson, pmid:22356347]
comment: Spider hemangiomas are up to a few centimeters in diameter.
xref: UMLS:C4022867
is_a: HP:0100585 ! Telangiectasia of the skin
created_by: peter
creation_date: 2013-12-14T08:31:15Z

[Term]
id: HP:0012523
name: Oral aversion
def: "Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing)." [ORCID:0000-0001-5208-3432]
xref: UMLS:C3665983
is_a: HP:0100738 ! Abnormal eating behavior
created_by: peter
creation_date: 2013-12-14T09:18:51Z

[Term]
id: HP:0012524
name: Abnormal platelet shape
def: "A deviation from the normal discoid platelet shape." [DD:WHO]
xref: UMLS:C4022866
is_a: HP:0011875 ! Abnormal platelet morphology
created_by: peter
creation_date: 2013-12-15T08:55:03Z

[Term]
id: HP:0012525
name: Abnormal alpha granule distribution
def: "An anomalous location and arrangement of platelet alpha granules." [DDD:wouwehand]
xref: UMLS:C4022865
is_a: HP:0012483 ! Abnormal alpha granules
created_by: peter
creation_date: 2013-12-15T08:56:17Z

[Term]
id: HP:0012526
name: Absence of alpha granules
def: "A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears." [HPO:probinson, pmid:3877532]
synonym: "Gray platelets" EXACT []
synonym: "Grey platelets" EXACT HP:0045076 []
xref: UMLS:C4022864
is_a: HP:0012528 ! Abnormal number of alpha granules
created_by: peter
creation_date: 2013-12-15T08:57:46Z

[Term]
id: HP:0012527
name: Abnormal alpha granule content
def: "A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor." [HPO:probinson]
comment: The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.
xref: UMLS:C4022863
is_a: HP:0012483 ! Abnormal alpha granules
created_by: peter
creation_date: 2013-12-15T09:02:48Z

[Term]
id: HP:0012528
name: Abnormal number of alpha granules
def: "A deviation from the normal count of alpha granules per thrombocyte." [DDD:wouwehand]
xref: UMLS:C4022862
is_a: HP:0012483 ! Abnormal alpha granules
created_by: peter
creation_date: 2013-12-15T09:07:34Z

[Term]
id: HP:0012529
name: Abnormal dense granule content
def: "A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated." [DDD:wouwehand]
xref: UMLS:C4021839
is_a: HP:0012484 ! Abnormal dense granules
created_by: peter
creation_date: 2013-12-15T09:12:44Z

[Term]
id: HP:0012530
name: Abnormal number of dense granules
def: "A deviation from the normal count of dense granules per thrombocyte." [DDD:wouwehand]
xref: UMLS:C4022861
is_a: HP:0012484 ! Abnormal dense granules
created_by: peter
creation_date: 2013-12-15T09:12:55Z

[Term]
id: HP:0012531
name: Pain
def: "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
synonym: "Pain" EXACT layperson []
xref: MSH:D010146
xref: SNOMEDCT_US:22253000
xref: UMLS:C0030193
is_a: HP:0025142 ! Constitutional symptom
created_by: peter
creation_date: 2013-12-15T09:38:08Z

[Term]
id: HP:0012532
name: Chronic pain
def: "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months." [HPO:probinson, pmid:1875958]
comment: Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing.
synonym: "Chronic pain" EXACT layperson []
synonym: "Long-lasting pain" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D059350
xref: SNOMEDCT_US:82423001
xref: UMLS:C0150055
is_a: HP:0012531 ! Pain
created_by: peter
creation_date: 2013-12-15T09:46:55Z

[Term]
id: HP:0012533
name: Allodynia
def: "Pain due to a stimulus that does not normally provoke pain." [HPO:probinson]
xref: MSH:D006930
xref: SNOMEDCT_US:247404004
xref: UMLS:C0458247
is_a: HP:0012531 ! Pain
created_by: peter
creation_date: 2013-12-15T09:47:40Z

[Term]
id: HP:0012534
name: Dysesthesia
def: "Abnormal sensations with no apparent physical cause that are painful or unpleasant." [ORCID:0000-0001-5208-3432]
comment: Dysesthesia is a subclass of paresthesia in which the sensations are unpleasant or disagreeable.
synonym: "Dysaesthesia" EXACT []
synonym: "Dysesthesias" RELATED [HPO:skoehler]
xref: MSH:D010292
xref: SNOMEDCT_US:279079003
xref: UMLS:C0392699
is_a: HP:0003401 ! Paresthesia
created_by: peter
creation_date: 2013-12-15T09:59:55Z

[Term]
id: HP:0012535
name: Abnormal synaptic transmission
def: "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process." [HPO:probinson, MP:0003635]
synonym: "Abnormality of neurotransmitter metabolism" EXACT []
xref: UMLS:C4021083
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: peter
creation_date: 2013-12-15T10:12:31Z

[Term]
id: HP:0012536
name: Maternal anticardiolipin antibody positive
def: "The presence of circulating autoantibodies to anticardiolipin in the mother." [ORCID:0000-0001-5208-3432, pmid:1495720, pmid:9722063]
comment: There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies.
xref: UMLS:C4022860
is_a: HP:0011437 ! Maternal autoimmune disease
created_by: peter
creation_date: 2013-12-15T10:20:51Z

[Term]
id: HP:0012537
name: Food intolerance
def: "A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction." [HPO:probinson]
synonym: "Food intolerance" EXACT layperson []
synonym: "Non-allergic food hypersensitivity" EXACT []
xref: SNOMEDCT_US:235719002
xref: UMLS:C0149696
is_a: HP:0012337 ! Abnormal homeostasis
created_by: peter
creation_date: 2013-12-15T10:25:19Z

[Term]
id: HP:0012538
name: Gluten intolerance
def: "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease." [HPO:probinson]
synonym: "Gluten intolerance" EXACT layperson []
synonym: "Gluten sensitivity" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D002446
xref: SNOMEDCT_US:396331005
xref: SNOMEDCT_US:441831003
xref: UMLS:C0007570
xref: UMLS:C0850024
is_a: HP:0001984 ! Intolerance to protein
created_by: peter
creation_date: 2013-12-15T10:31:34Z

[Term]
id: HP:0012539
name: Non-Hodgkin lymphoma
def: "A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells." [HPO:probinson]
xref: MSH:D008228
xref: SNOMEDCT_US:118601006
xref: SNOMEDCT_US:128929007
xref: SNOMEDCT_US:188675007
xref: SNOMEDCT_US:1929004
xref: UMLS:C0024305
is_a: HP:0002665 ! Lymphoma
created_by: peter
creation_date: 2013-12-15T10:45:49Z

[Term]
id: HP:0012540
name: Axillary epidermoid cyst
def: "An epidermoid cyst in the armpit." [ORCID:0000-0001-5208-3432]
synonym: "Armpit cyst" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022859
is_a: HP:0200040 ! Epidermoid cyst
created_by: peter
creation_date: 2013-12-15T10:35:39Z

[Term]
id: HP:0012541
name: Cephalohematoma
def: "Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum." [ORCID:0000-0001-5208-3432]
comment: Cephalohematoma is generally caused by trauma during labor.
synonym: "Cephalohaematoma" EXACT []
xref: SNOMEDCT_US:206200000
xref: SNOMEDCT_US:83095000
xref: UMLS:C0007722
is_a: HP:0001787 ! Abnormal delivery
is_a: HP:0001892 ! Abnormal bleeding
created_by: peter
creation_date: 2013-12-15T10:37:57Z

[Term]
id: HP:0012542
name: Onychauxis
def: "Thickened nails without deformity." [HPO:probinson]
xref: SNOMEDCT_US:30654002
xref: UMLS:C0263536
is_a: HP:0001805 ! Onychogryposis
created_by: peter
creation_date: 2013-12-15T10:49:45Z

[Term]
id: HP:0012543
name: Hemosiderinuria
def: "The presence of hemosiderin in the urine." [HPO:probinson]
comment: Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin.
xref: UMLS:C2721579
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2013-12-21T09:09:38Z

[Term]
id: HP:0012544
name: Elevated aldolase level
def: "An increased concentration of fructose 1,6-bisphosphate aldolase in the serum." [ORCID:0000-0001-5208-3432]
comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.
xref: UMLS:C4022858
is_a: HP:0012400 ! Abnormal aldolase level
created_by: peter
creation_date: 2013-12-21T09:18:43Z

[Term]
id: HP:0012545
name: Reduced aldolase level
def: "An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum." [ORCID:0000-0001-5208-3432]
comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.
xref: UMLS:C4022857
is_a: HP:0012400 ! Abnormal aldolase level
created_by: peter
creation_date: 2013-12-21T09:20:49Z

[Term]
id: HP:0012546
name: Skewed maternal X inactivation
def: "A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells." [HPO:probinson, pmid:18097476]
comment: X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status.
xref: UMLS:C4022856
is_a: HP:0002686 ! Prenatal maternal abnormality
created_by: peter
creation_date: 2013-12-21T09:22:57Z

[Term]
id: HP:0012547
name: Abnormal involuntary eye movements
def: "Anomalous movements of the eyes that occur without the subject wanting them to happen." [HPO:probinson]
xref: UMLS:C4022855
is_a: HP:0000496 ! Abnormality of eye movement
created_by: peter
creation_date: 2013-12-21T10:37:42Z

[Term]
id: HP:0012548
name: Fatty replacement of skeletal muscle
def: "Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers" [HPO:probinson, Neuromics:vstraub]
comment: Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography.
synonym: "Skeletal muscle fatty infiltration" EXACT []
xref: UMLS:C4021082
is_a: HP:0011805 ! Abnormal muscle morphology
created_by: peter
creation_date: 2014-01-01T03:03:05Z

[Term]
id: HP:0012549
name: Conjunctival lipoma
def: "A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva." [HPO:probinson]
comment: Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells.
xref: NCIT:C3192
xref: UMLS:C4022854
is_a: HP:0000502 ! Abnormal conjunctiva morphology
created_by: peter
creation_date: 2014-01-01T03:13:56Z

[Term]
id: HP:0012550
name: Colonic varices
def: "The presence of varices (enlarged and convoluted blood vessels) in the colon." [HPO:probinson, pmid:16688816]
comment: Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension nd more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum.
xref: UMLS:C4022853
is_a: HP:0002250 ! Abnormal large intestine morphology
created_by: peter
creation_date: 2014-01-01T03:54:41Z

[Term]
id: HP:0012551
name: Absent neutrophil specific granules
def: "Lack of specific granules in neutrophils." [HPO:probinson, pmid:6155073]
comment: Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums.
xref: UMLS:C4022852
is_a: HP:0011992 ! Abnormality of neutrophil morphology
created_by: peter
creation_date: 2014-01-01T03:32:09Z

[Term]
id: HP:0012552
name: Increased neutrophil nuclear projections
def: "Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs." [HPO:probinson]
xref: UMLS:C4022851
is_a: HP:0011992 ! Abnormality of neutrophil morphology
created_by: peter
creation_date: 2014-01-01T03:41:24Z

[Term]
id: HP:0012553
name: Hypoplastic thumbnail
def: "A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail." [HPO:probinson]
synonym: "Small thumbnail" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped thumbnail" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022850
is_a: HP:0001804 ! Hypoplastic fingernail
created_by: peter
creation_date: 2014-01-04T12:57:28Z

[Term]
id: HP:0012554
name: Absent thumbnail
def: "Absence of thumb nail." [HPO:probinson]
xref: UMLS:C4022849
is_a: HP:0001817 ! Absent fingernail
created_by: peter
creation_date: 2014-01-04T01:05:52Z

[Term]
id: HP:0012555
name: Absent nail of hallux
def: "Absent nail of big toe." [HPO:probinson]
synonym: "Absent big toe nail" EXACT layperson []
synonym: "Absent nail of big toe" EXACT layperson []
xref: UMLS:C4021081
is_a: HP:0001802 ! Absent toenail
created_by: peter
creation_date: 2014-01-04T01:06:39Z

[Term]
id: HP:0012556
name: Hyperbetaalaninemia
def: "Increased concentration of beta-alanine in the blood." [HPO:probinson]
synonym: "High blood beta-alanine levels" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hyperbeta-alaninemia" EXACT []
xref: UMLS:C4021080
is_a: HP:0003112 ! Abnormality of serum amino acid level
created_by: peter
creation_date: 2014-01-04T01:37:23Z

[Term]
id: HP:0012557
name: EEG with centrotemporal focal spike waves
def: "EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:probinson]
xref: UMLS:C4022848
is_a: HP:0011197 ! EEG with focal spike waves
created_by: peter
creation_date: 2014-01-04T01:43:32Z

[Term]
id: HP:0012558
name: Abnormal T3/T4 ratio
def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal." [HPO:probinson, pmid:16982586]
xref: UMLS:C4022847
is_a: HP:0031508 ! Abnormal thyroid hormone level
created_by: peter
creation_date: 2014-01-04T01:50:30Z

[Term]
id: HP:0012559
name: Increased T3/T4 ratio
def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal." [HPO:probinson]
xref: UMLS:C4022846
is_a: HP:0012558 ! Abnormal T3/T4 ratio
created_by: peter
creation_date: 2014-01-04T01:52:59Z

[Term]
id: HP:0012560
name: Decreased T3/T4 ratio
def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal." [HPO:probinson]
xref: UMLS:C4022845
is_a: HP:0012558 ! Abnormal T3/T4 ratio
created_by: peter
creation_date: 2014-01-04T01:54:13Z

[Term]
id: HP:0012561
name: Unicuspid aortic valve
def: "The presence of an aortic valve with one instead of the normal three cusps (flaps)." [HPO:probinson, pmid:18480095, pmid:20329493]
comment: The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV.
xref: SNOMEDCT_US:253610004
xref: UMLS:C0345001
is_a: HP:0031567 ! Abnormal aortic valve cusp morphology
created_by: peter
creation_date: 2014-01-08T08:14:15Z

[Term]
id: HP:0012562
name: Premature epimetaphyseal fusion in hand
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson]
xref: UMLS:C4022844
is_a: HP:0010588 ! Premature epimetaphyseal fusion
created_by: peter
creation_date: 2014-01-04T02:02:35Z

[Term]
id: HP:0012563
name: Premature epimetaphyseal fusion in foot
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson]
xref: UMLS:C4022843
is_a: HP:0010588 ! Premature epimetaphyseal fusion
created_by: peter
creation_date: 2014-01-04T02:05:25Z

[Term]
id: HP:0012564
name: Premature epimetaphyseal fusion in tibia
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson]
xref: UMLS:C4022842
is_a: HP:0010588 ! Premature epimetaphyseal fusion
created_by: peter
creation_date: 2014-01-04T02:07:34Z

[Term]
id: HP:0012565
name: Premature epimetaphyseal fusion in fibula
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson]
xref: UMLS:C4021838
is_a: HP:0010588 ! Premature epimetaphyseal fusion
created_by: peter
creation_date: 2014-01-04T02:08:23Z

[Term]
id: HP:0012566
name: Premature epimetaphyseal fusion in radius
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson]
xref: UMLS:C4022841
is_a: HP:0010588 ! Premature epimetaphyseal fusion
created_by: peter
creation_date: 2014-01-04T02:09:50Z

[Term]
id: HP:0012567
name: Premature epimetaphyseal fusion in ulna
def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson]
xref: UMLS:C4022840
is_a: HP:0010588 ! Premature epimetaphyseal fusion
created_by: peter
creation_date: 2014-01-04T02:10:05Z

[Term]
id: HP:0012568
name: Lower eyelid edema
def: "Edema in the region of the Lower eyelid." [ORCID:0000-0001-5208-3432]
synonym: "Cellulitis of lower eyelid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Fullness of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Puffiness of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Swelling of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:700327003
xref: UMLS:C2025810
xref: UMLS:C3839997
is_a: HP:0100540 ! Palpebral edema
created_by: peter
creation_date: 2014-01-04T02:25:56Z

[Term]
id: HP:0012569
name: Delayed menarche
def: "First period after the age of 15 years." [HPO:probinson]
synonym: "Delayed start of first period" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0949173
is_a: HP:0000140 ! Abnormality of the menstrual cycle
is_a: HP:0000823 ! Delayed puberty
created_by: peter
creation_date: 2014-01-08T08:20:18Z

[Term]
id: HP:0012570
name: Synovial sarcoma
def: "A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities." [HPO:probinson]
comment: Synovial sarcoma is a high-grade tumor that is associated with poor prognosis.
synonym: "Malignant synovioma" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D013584
xref: SNOMEDCT_US:302851001
xref: SNOMEDCT_US:63211008
xref: UMLS:C0039101
is_a: HP:0030448 ! Soft tissue sarcoma
created_by: peter
creation_date: 2014-01-08T08:47:50Z

[Term]
id: HP:0012571
name: Ureter fissus
def: "A partial duplication of the ureter such that the duplicated ureters fuse to a single ureter before their insertion into the bladder." [Eurenomics:ewuehl]
comment: This anomaly is only seen in the presence of renal duplication.
synonym: "Partially duplicated ureter" EXACT []
xref: ICD-10:Q62.5 "Duplication of ureter"
xref: UMLS:C4021079
is_a: HP:0000073 ! Ureteral duplication
created_by: peter
creation_date: 2014-01-16T11:38:41Z

[Term]
id: HP:0012572
name: Ureter duplex
def: "A complete duplication of the ureter such that the duplicated ureters with separate insertions into the bladder." [Eurenomics:fschaefer]
xref: ICD-10:Q62.5 "Duplication of ureter"
xref: SNOMEDCT_US:49496001
xref: UMLS:C0221365
is_a: HP:0000073 ! Ureteral duplication
created_by: peter
creation_date: 2014-01-16T11:42:00Z

[Term]
id: HP:0012573
name: Global proximal tubulopathy
def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis." [HPO:probinson]
xref: UMLS:C4022839
is_a: HP:0000114 ! Proximal tubulopathy
created_by: peter
creation_date: 2014-01-16T12:27:40Z

[Term]
id: HP:0012574
name: Mesangial hypercellularity
def: "Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment." [Eurenomics:fschaefer]
synonym: "Mesangial proliferation" EXACT []
xref: SNOMEDCT_US:125510009
xref: UMLS:C0545017
is_a: HP:0001966 ! Mesangial abnormality
created_by: peter
creation_date: 2014-01-16T12:43:25Z

[Term]
id: HP:0012575
name: Abnormal nephron morphology
def: "A structural anomaly of the nephron." [Eurenomics:fschaefer]
synonym: "Abnormality of the nephron" EXACT []
xref: UMLS:C4022838
is_a: HP:0012210 ! Abnormal renal morphology
created_by: peter
creation_date: 2014-01-16T12:49:04Z

[Term]
id: HP:0012576
name: Glomerular C3 deposition
def: "The presence of complement 3 deposits in the glomerulus." [Eurenomics:ewuehl]
synonym: "C3 nephropathy" RELATED []
synonym: "Renal C3 deposition" EXACT []
xref: UMLS:C4022837
is_a: HP:0030949 ! Glomerular deposits
created_by: peter
creation_date: 2014-01-16T01:08:21Z

[Term]
id: HP:0012577
name: Thin glomerular basement membrane
def: "Reduction in thickness of the basal lamina of the glomerulus of the kidney." [HPO:probinson]
comment: This finding is demonstrated on renal biopsy.
xref: UMLS:C3276821
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
created_by: peter
creation_date: 2014-01-16T01:21:17Z

[Term]
id: HP:0012578
name: Membranous nephropathy
def: "A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space." [Eurenomics:fschaefer]
synonym: "Membranous glomerulonephritis" EXACT []
xref: MSH:D015433
xref: SNOMEDCT_US:77182004
xref: UMLS:C0017665
is_a: HP:0000099 ! Glomerulonephritis
created_by: peter
creation_date: 2014-01-16T01:22:41Z

[Term]
id: HP:0012579
name: Minimal change glomerulonephritis
def: "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [Eurenomics:fschaefer]
synonym: "Minimal change disease" EXACT []
synonym: "Minimal change nephropathy" EXACT []
xref: MSH:D009402
xref: SNOMEDCT_US:44785005
xref: UMLS:C0027721
is_a: HP:0000099 ! Glomerulonephritis
created_by: peter
creation_date: 2014-01-16T01:26:20Z

[Term]
id: HP:0012580
name: Calcium phosphate nephrolithiasis
def: "The presence of calcium- and phosphate-containing calculi (stones) in the kidneys." [HPO:probinson]
synonym: "Ca phosphate nephrolithiasis" EXACT HP:0045077 []
synonym: "Ca phosphate urolithiasis" EXACT HP:0045077 []
synonym: "Ca2+ phosphate nephrolitiasis" EXACT HP:0045077 []
synonym: "Ca2+ phosphate urolithiasis" EXACT HP:0045077 []
synonym: "Calcium phosphate urolithiasis" RELATED []
xref: UMLS:C3671880
is_a: HP:0004724 ! Calcium nephrolithiasis
created_by: peter
creation_date: 2014-01-16T01:34:27Z

[Term]
id: HP:0012581
name: Solitary renal cyst
def: "An isolated cyst of the kidney." [Eurenomics:ewuehl]
synonym: "Simple kidney cyst" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:77945009
xref: UMLS:C0268800
xref: UMLS:C4022836
is_a: HP:0000107 ! Renal cyst
created_by: peter
creation_date: 2014-01-16T03:06:37Z

[Term]
id: HP:0012582
name: Bilateral renal dysplasia
def: "A bilateral form of developmental dysplasia of the kidney." [HPO:probinson]
xref: SNOMEDCT_US:204950001
xref: UMLS:C0431698
is_a: HP:0000110 ! Renal dysplasia
created_by: peter
creation_date: 2014-01-16T03:14:35Z

[Term]
id: HP:0012583
name: Unilateral renal hypoplasia
def: "One sided hypoplasia of the kidney." [Eurenomics:fschaefer]
synonym: "Small kidney on one side" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped kidney on one side" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:204948009
xref: UMLS:C0431691
is_a: HP:0000089 ! Renal hypoplasia
created_by: peter
creation_date: 2014-01-16T03:15:30Z

[Term]
id: HP:0012584
name: Bilateral renal hypoplasia
def: "Two sided hypoplasia of the kidney." [Eurenomics:fschaefer]
xref: SNOMEDCT_US:268232000
xref: UMLS:C0431692
is_a: HP:0000089 ! Renal hypoplasia
created_by: peter
creation_date: 2014-01-16T03:16:03Z

[Term]
id: HP:0012585
name: Renal atrophy
def: "Atrophy of the kidney." [HPO:probinson]
synonym: "Kidney degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:197659005
xref: UMLS:C0341698
is_a: HP:0012210 ! Abnormal renal morphology
created_by: peter
creation_date: 2014-01-16T03:21:19Z

[Term]
id: HP:0012586
name: Bilateral renal atrophy
def: "A two-sided form of atrophy of the kidney." [HPO:probinson]
synonym: "Bilateral kidney degeneration" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022835
is_a: HP:0012585 ! Renal atrophy
created_by: peter
creation_date: 2014-01-16T03:21:55Z

[Term]
id: HP:0012587
name: Macroscopic hematuria
def: "Hematuria that is visible upon inspection of the urine." [HPO:sdoelken]
synonym: "Bloody urine" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Gross hematuria" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:197941005
xref: UMLS:C0473237
is_a: HP:0000790 ! Hematuria
created_by: peter
creation_date: 2014-01-16T03:31:44Z

[Term]
id: HP:0012588
name: Steroid-resistant nephrotic syndrome
def: "A form of nephrotic syndrome that does not respond to treatment with steroid medication." [Eurenomics:ewuehl]
xref: SNOMEDCT_US:236381000
xref: UMLS:C0403397
is_a: HP:0000100 ! Nephrotic syndrome
created_by: peter
creation_date: 2014-01-16T03:47:57Z

[Term]
id: HP:0012589
name: Multidrug-resistant nephrotic syndrome
def: "A form of nephrotic syndrome that does not respond to any immunosuppresive treatment." [Eurenomics:ewuehl]
xref: UMLS:C4022834
is_a: HP:0000100 ! Nephrotic syndrome
created_by: peter
creation_date: 2014-01-16T03:48:49Z

[Term]
id: HP:0012590
name: Abnormal urine output
def: "An abnormal amount of urine production." [Eurenomics:ewuehl]
xref: UMLS:C3693260
is_a: HP:0011036 ! Abnormality of renal excretion
created_by: peter
creation_date: 2014-01-16T03:59:33Z

[Term]
id: HP:0012591
name: Abnormal urinary electrolyte concentration
xref: UMLS:C4022833
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2014-01-16T05:44:11Z

[Term]
id: HP:0012592
name: Albuminuria
def: "Increased concentration of albumin in the urine." [Eurenomics:fschaefer]
xref: MSH:D000419
xref: SNOMEDCT_US:274769005
xref: UMLS:C0001925
is_a: HP:0000093 ! Proteinuria
created_by: peter
creation_date: 2014-01-16T05:49:16Z

[Term]
id: HP:0012593
name: Nephrotic range proteinuria
def: "Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children." [Eurenomics:ewuehl]
xref: SNOMEDCT_US:264867001
xref: UMLS:C0445118
is_a: HP:0000093 ! Proteinuria
created_by: peter
creation_date: 2014-01-16T05:50:21Z

[Term]
id: HP:0012594
name: Microalbuminuria
def: "The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day)." [Eurenomics:fschaefer]
synonym: "High urine albumin levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:312975006
xref: UMLS:C0730345
xref: UMLS:C1654921
is_a: HP:0012592 ! Albuminuria
created_by: peter
creation_date: 2014-01-16T05:54:41Z

[Term]
id: HP:0012595
name: Mild proteinuria
def: "Mildly increased levels of protein in the urine (150-500 mg per day in adults)." [Eurenomics:eweuehl]
xref: UMLS:C4022832
is_a: HP:0000093 ! Proteinuria
created_by: peter
creation_date: 2014-01-16T05:55:47Z

[Term]
id: HP:0012596
name: Moderate proteinuria
def: "Moderately increased levels of protein in the urine (500-1000 mg per day in adults)." [Eurenomics:fschaefer]
xref: UMLS:C4022831
is_a: HP:0000093 ! Proteinuria
created_by: peter
creation_date: 2014-01-16T05:56:26Z

[Term]
id: HP:0012597
name: Heavy proteinuria
def: "Severely increased levels of protein in the urine (1000-3000 mg per day in adults)." [Eurenomics:ewuehl]
synonym: "Severly high blood protein levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022830
is_a: HP:0000093 ! Proteinuria
created_by: peter
creation_date: 2014-01-16T05:56:38Z

[Term]
id: HP:0012598
name: Abnormal urine potassium concentration
def: "An abnormal concentration of potassium(1+) in the urine." [Eurenomics:fschaefer]
synonym: "Abnormal urine K concentration" EXACT HP:0045077 []
xref: UMLS:C4022829
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
created_by: peter
creation_date: 2014-01-16T06:11:59Z

[Term]
id: HP:0012599
name: Abnormal urine phosphate concentration
def: "An abnormal phosphate concentration in the urine." [Eurenomics:ewuehl]
xref: UMLS:C4022828
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
created_by: peter
creation_date: 2014-01-16T06:14:49Z

[Term]
id: HP:0012600
name: Abnormal urine chloride concentration
def: "An abnormal concentration of chloride in the urine." [Eurenomics:fschaefer]
synonym: "Abnormal urine Cl concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal urine Cl- concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4022827
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
created_by: peter
creation_date: 2014-01-16T06:16:24Z

[Term]
id: HP:0012601
name: Hypochloriduria
def: "An decreased concentration of chloride in the urine." [HPO:probinson]
synonym: "Decreased urinary chloride" EXACT []
synonym: "Low urine chloride levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021078
is_a: HP:0012600 ! Abnormal urine chloride concentration
created_by: peter
creation_date: 2014-01-16T06:17:06Z

[Term]
id: HP:0012602
name: Renal chloride wasting
def: "High urine chloride in the presence of hypochloridemia." [Eurenomics:ewuehl]
synonym: "Kidney chloride wasting" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Renal Cl wasting" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Renal Cl- wasting" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4022826
is_a: HP:0012600 ! Abnormal urine chloride concentration
created_by: peter
creation_date: 2014-01-16T06:18:11Z

[Term]
id: HP:0012603
name: Abnormal urine sodium concentration
def: "An abnormal concentration of sodium in the urine." [Eurenomics:fschaefer]
synonym: "Abnormal urine Na concentration" EXACT []
synonym: "Abnormal urine Na+ levels" EXACT []
xref: UMLS:C4022825
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
created_by: peter
creation_date: 2014-01-16T06:19:27Z

[Term]
id: HP:0012604
name: Hyponatriuria
def: "An abnormally decreased sodium concentration in the urine." [Eurenomics:ewuehl]
synonym: "Low urine sodium levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022824
is_a: HP:0012603 ! Abnormal urine sodium concentration
created_by: peter
creation_date: 2014-01-16T06:22:09Z

[Term]
id: HP:0012605
name: Hypernatriuria
alt_id: HP:0003608
def: "An increased concentration of sodium(1+) in the urine." [Eurenomics:ewuehl]
synonym: "Increased urinary sodium" EXACT []
xref: UMLS:C3671887
is_a: HP:0012603 ! Abnormal urine sodium concentration
created_by: peter
creation_date: 2014-01-16T06:22:44Z

[Term]
id: HP:0012606
name: Renal sodium wasting
def: "An abnormally increased sodium concentration in the urine in the presence of hyponatremia." [Eurenomics:ewuehl]
synonym: "Kidney sodium wasting" EXACT []
synonym: "Renal Na wasting" EXACT HP:0045077 []
synonym: "Renal Na+ wasting" EXACT HP:0045077 []
xref: UMLS:C2748576
is_a: HP:0012603 ! Abnormal urine sodium concentration
created_by: peter
creation_date: 2014-01-16T06:23:16Z

[Term]
id: HP:0012607
name: Abnormal urine magnesium concentration
def: "An abnormal concentration of magnesium the urine." [Eurenomics:ewuehl]
synonym: "Abnormal urine magnesium concentration" EXACT layperson []
xref: UMLS:C4022823
is_a: HP:0012591 ! Abnormal urinary electrolyte concentration
created_by: peter
creation_date: 2014-01-17T11:37:50Z

[Term]
id: HP:0012608
name: Hypermagnesiuria
def: "An increased concentration of magnesium the urine." [Eurenomics:fschaefer]
xref: UMLS:C2673443
is_a: HP:0012607 ! Abnormal urine magnesium concentration
created_by: peter
creation_date: 2014-01-17T11:38:51Z

[Term]
id: HP:0012609
name: Hypomagnesiuria
def: "An decreased concentration of magnesium the urine." [Eurenomics:fschaefer]
synonym: "Decreased urine magnesium" EXACT layperson []
synonym: "Low urine magnesium levels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3203528
is_a: HP:0012607 ! Abnormal urine magnesium concentration
created_by: peter
creation_date: 2014-01-17T11:39:31Z

[Term]
id: HP:0012610
name: Abnormality of urinary uric acid concentration
def: "Abnormal concentration of urate in the urine." [HPO:probinson]
comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism.
xref: UMLS:C4022822
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2014-01-17T11:56:43Z

[Term]
id: HP:0012611
name: Increased urinary urate
def: "Elevated concentration of urate in the urine." [HPO:probinson]
comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism.
xref: UMLS:C0878672
is_a: HP:0012610 ! Abnormality of urinary uric acid concentration
created_by: peter
creation_date: 2014-01-17T11:57:29Z

[Term]
id: HP:0012612
name: Abnormal urinary sulfate concentration
def: "Abnormal concentration of sulfate in the urine." [HPO:probinson]
xref: UMLS:C4022821
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2014-01-17T11:58:23Z

[Term]
id: HP:0012613
name: Increased urinary sulfate
def: "Elevated concentration of SO4(2-), i.e., sulfate, in the urine." [HPO:probinson]
xref: UMLS:C4022820
is_a: HP:0012612 ! Abnormal urinary sulfate concentration
created_by: peter
creation_date: 2014-01-17T11:58:51Z

[Term]
id: HP:0012614
name: Abnormal urine cytology
def: "An anomalous finding in the examination of the urine for cells." [Eurenomics:ewuehl]
xref: SNOMEDCT_US:310439007
xref: UMLS:C0587955
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: peter
creation_date: 2014-01-17T12:01:16Z

[Term]
id: HP:0012615
name: Cylindruria
def: "The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine." [Eurenomics:ewuehl]
comment: Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle.
synonym: "Urinary casts" EXACT []
xref: PMID:26079824
xref: SNOMEDCT_US:5277004
xref: UMLS:C0151990
is_a: HP:0012614 ! Abnormal urine cytology
created_by: peter
creation_date: 2014-01-17T12:03:19Z

[Term]
id: HP:0012616
name: Leukocyte cylindruria
def: "Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [Eurenomics:fschaefer]
synonym: "White blood cell casts" EXACT []
xref: UMLS:C4022819
is_a: HP:0031197 ! Cellular urinary casts
created_by: peter
creation_date: 2014-01-17T12:05:08Z

[Term]
id: HP:0012617
name: Erythrocyte cylindruria
def: "Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [Eurenomics:fschaefer]
synonym: "Red blood cell casts" EXACT []
xref: UMLS:C4022818
is_a: HP:0031197 ! Cellular urinary casts
created_by: peter
creation_date: 2014-01-17T12:06:50Z

[Term]
id: HP:0012618
name: Urachal cyst
def: "A cyst located along the allantois canal." [Eurenomics:fschaefer]
xref: MSH:D014496
xref: SNOMEDCT_US:17234001
xref: UMLS:C0041915
is_a: HP:0010478 ! Abnormality of the urachus
created_by: peter
creation_date: 2014-01-17T12:15:15Z

[Term]
id: HP:0012619
name: Multiple bladder diverticula
def: "Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder." [Eurenomics:fschaefer]
synonym: "Multiple pouches in bladder wall" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022817
is_a: HP:0000015 ! Bladder diverticulum
created_by: peter
creation_date: 2014-01-17T12:21:05Z

[Term]
id: HP:0012620
name: Cloacal abnormality
def: "A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate." [HPO:probinson]
xref: UMLS:C4022816
is_a: HP:0000119 ! Abnormality of the genitourinary system
is_a: HP:0010866 ! Abdominal wall defect
created_by: peter
creation_date: 2014-01-17T12:27:06Z

[Term]
id: HP:0012621
name: Persistent cloaca
def: "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel." [HPO:probinson]
synonym: "Cloacogenic bladder" EXACT []
xref: SNOMEDCT_US:74829002
xref: UMLS:C0266225
is_a: HP:0012620 ! Cloacal abnormality
created_by: peter
creation_date: 2014-01-17T12:28:30Z

[Term]
id: HP:0012622
name: Chronic kidney disease
alt_id: HP:0000106
alt_id: HP:0001918
alt_id: HP:0008671
def: "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl]
synonym: "Chronic kidney disease" EXACT layperson []
synonym: "Loss of renal function" RELATED []
synonym: "Progressive renal failure" RELATED []
synonym: "Progressive renal insufficiency" RELATED []
synonym: "Renal failure, progressive" RELATED [HPO:skoehler]
synonym: "Renal insufficiency, progressive" RELATED []
xref: MSH:D051436
xref: SNOMEDCT_US:709044004
xref: UMLS:C0748318
xref: UMLS:C1561643
is_a: HP:0000083 ! Renal insufficiency
created_by: peter
creation_date: 2014-01-17T01:14:52Z

[Term]
id: HP:0012623
name: Stage 1 chronic kidney disease
def: "A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2)." [Eurenomics:fschaefer]
comment: Proteinuria is commonly seen in stage 1 chronic kidney disease.
xref: SNOMEDCT_US:431855005
xref: UMLS:C2316401
is_a: HP:0012622 ! Chronic kidney disease
created_by: peter
creation_date: 2014-01-17T01:20:48Z

[Term]
id: HP:0012624
name: Stage 2 chronic kidney disease
def: "A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2)." [Eurenomics:fschaefer]
xref: SNOMEDCT_US:431856006
xref: UMLS:C2316786
is_a: HP:0012622 ! Chronic kidney disease
created_by: peter
creation_date: 2014-01-17T01:22:13Z

[Term]
id: HP:0012625
name: Stage 3 chronic kidney disease
def: "A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2)." [Eurenomics:fschaefer]
xref: SNOMEDCT_US:433144002
xref: UMLS:C2316787
is_a: HP:0012622 ! Chronic kidney disease
created_by: peter
creation_date: 2014-01-17T01:22:43Z

[Term]
id: HP:0012626
name: Stage 4 chronic kidney disease
def: "A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2)." [Eurenomics:fschaefer]
synonym: "Stage 4 chronic kidney disease" EXACT layperson []
xref: SNOMEDCT_US:431857002
xref: UMLS:C2317473
is_a: HP:0012622 ! Chronic kidney disease
created_by: peter
creation_date: 2014-01-17T01:23:43Z

[Term]
id: HP:0012627
name: Pseudoexfoliation
def: "Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor." [HPO:probinson, pmid:23157966]
comment: In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork.
xref: UMLS:C4022815
is_a: HP:0004328 ! Abnormal anterior eye segment morphology
created_by: peter
creation_date: 2014-01-17T10:50:32Z

[Term]
id: HP:0012628
name: Abnormal suspensory ligament of lens morphology
def: "An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place." [HPO:probinson]
synonym: "Abnormality of the suspensory ligament of lens" EXACT []
synonym: "Abnormality of zinn's membrane" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, ORCID:0000-0001-6908-9849]
synonym: "Ciliary zonule abnormality" EXACT []
synonym: "Zonule of zinn abnormality" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, ORCID:0000-0001-6908-9849]
xref: UMLS:C4021077
is_a: HP:0004328 ! Abnormal anterior eye segment morphology
created_by: peter
creation_date: 2014-01-17T10:59:37Z

[Term]
id: HP:0012629
name: Phakodonesis
def: "Tremulousness (trembling) of the lens of the eye." [HPO:probinson, PMID:5472193]
comment: Phacodonesis results from lesions of some or most of the zonular fibres are broken.
synonym: "Phacodonesis" EXACT []
synonym: "Trembling eye lens" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:116669003
xref: UMLS:C2939415
is_a: HP:0000517 ! Abnormality of the lens
created_by: peter
creation_date: 2014-01-17T11:03:09Z

[Term]
id: HP:0012630
name: Abnormal trabecular meshwork morphology
def: "An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm." [HPO:probinson]
synonym: "Abnormality of the trabecular meshwork" EXACT []
xref: UMLS:C4022814
is_a: HP:0000593 ! Abnormal anterior chamber morphology
created_by: peter
creation_date: 2014-01-17T11:12:27Z

[Term]
id: HP:0012631
name: Pigment deposition in the trabecular meshwork
def: "Accumulation of abnormal amounts of pigment within the trabecular meshwork." [HPO:probinson]
comment: Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork.
xref: UMLS:C3805899
is_a: HP:0012630 ! Abnormal trabecular meshwork morphology
created_by: peter
creation_date: 2014-01-17T11:15:03Z

[Term]
id: HP:0012632
name: Abnormal intraocular pressure
def: "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye." [HPO:probinson]
synonym: "Abnormal eye pressure" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Abnormal intraocular pressure" EXACT layperson []
xref: MP:0005257 "Abnormal intraocular pressure"
xref: SNOMEDCT_US:24075007
xref: UMLS:C0520999
is_a: HP:0012373 ! Abnormal eye physiology
created_by: peter
creation_date: 2014-01-17T11:20:17Z

[Term]
id: HP:0012633
name: Asymmetry of intraocular pressure
def: "A difference in the amount of intraocular pressure in the right and left eye." [HPO:probinson]
xref: UMLS:C3805901
is_a: HP:0012632 ! Abnormal intraocular pressure
created_by: peter
creation_date: 2014-01-17T11:21:18Z

[Term]
id: HP:0012634
name: Iris pigment dispersion
def: "Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor." [HPO:probinson]
comment: These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263.
xref: UMLS:C4022813
is_a: HP:0008034 ! Abnormal iris pigmentation
created_by: peter
creation_date: 2014-01-17T11:30:02Z

[Term]
id: HP:0012635
name: Iris hypoperfusion
def: "Reduction in the amount of blood flow to the iris." [HPO:probinson]
comment: This feature can be diagnosed by iris angiography.
xref: UMLS:C4022812
is_a: HP:0007905 ! Abnormal iris vasculature
created_by: peter
creation_date: 2014-01-17T11:41:07Z

[Term]
id: HP:0012636
name: Retinal vein occlusion
def: "Blockage of the retinal vein." [HPO:probinson]
comment: Retinal vein occlusion can lead to edema and ischemia of the retina.
xref: MSH:D012170
xref: SNOMEDCT_US:46085004
xref: UMLS:C0035328
is_a: HP:0008046 ! Abnormal retinal vascular morphology
created_by: peter
creation_date: 2014-01-17T11:43:32Z

[Term]
id: HP:0012637
name: Renal calcium wasting
def: "High urine calcium in the presence of hypocalcemia." [HPO:probinson]
synonym: "Kidney Ca wasting" EXACT layperson []
synonym: "Kidney Ca2+ wasting" EXACT layperson []
synonym: "Kidney calcium wasting" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Renal Ca wasting" EXACT HP:0045077 []
synonym: "Renal Ca2+ wasting" EXACT HP:0045077 []
xref: UMLS:C2673441
is_a: HP:0011280 ! Abnormality of urine calcium concentration
created_by: peter
creation_date: 2014-01-18T04:46:41Z

[Term]
id: HP:0012638
name: Abnormality of nervous system physiology
def: "A functional anomaly of the nervous system." [HPO:probinson]
xref: UMLS:C4022811
is_a: HP:0000707 ! Abnormality of the nervous system
created_by: peter
creation_date: 2014-01-19T08:02:46Z

[Term]
id: HP:0012639
name: Abnormality of nervous system morphology
def: "A structural anomaly of the nervous system." [HPO:probinson]
synonym: "Abnormal nervous system morphology" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormal shape of nervous system" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: Fyler:4135
xref: Fyler:4300
xref: UMLS:C4022810
is_a: HP:0000707 ! Abnormality of the nervous system
created_by: peter
creation_date: 2014-01-19T08:03:08Z

[Term]
id: HP:0012640
name: Abnormality of intracranial pressure
def: "A deviation from the norm of the intracranial pressure." [HPO:probinson]
comment: Intracranial pressure (i.e., the pressure inside the skull) represents the pressue in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF.
xref: UMLS:C4022809
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: peter
creation_date: 2014-01-19T08:06:51Z

[Term]
id: HP:0012641
name: Decreased intracranial pressure
def: "A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson]
synonym: "Intracranial hypotension" EXACT []
xref: SNOMEDCT_US:167714004
xref: SNOMEDCT_US:277657001
xref: UMLS:C0456892
is_a: HP:0012640 ! Abnormality of intracranial pressure
created_by: peter
creation_date: 2014-01-19T08:15:01Z

[Term]
id: HP:0012642
name: Cerebellar agenesis
def: "Lack of development of the cerebellum." [HPO:probinson, pmid:20305277]
comment: Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature.
xref: UMLS:C4022808
is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum
created_by: peter
creation_date: 2014-01-22T08:14:57Z

[Term]
id: HP:0012643
name: Foveal hypopigmentation
def: "Decreased amount of pigmentation in the fovea centralis." [HPO:probinson]
xref: UMLS:C4022807
is_a: HP:0030493 ! Abnormality of foveal pigmentation
created_by: peter
creation_date: 2014-01-22T09:25:34Z

[Term]
id: HP:0012644
name: Increased caudate lactate level
def: "An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging." [HPO:probinson, pmid:23810640]
xref: UMLS:C4022806
is_a: HP:0002339 ! Abnormal caudate nucleus morphology
created_by: peter
creation_date: 2014-01-28T08:19:22Z

[Term]
id: HP:0012645
name: Enlarged peripheral nerve
def: "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve." [HPO:probinson]
comment: This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id).
synonym: "Enlarged peripheral nerves" RELATED [HPO:skoehler]
xref: UMLS:C2675074
is_a: HP:0045010 ! Abnormality of peripheral nerves
created_by: peter
creation_date: 2014-02-01T12:44:16Z

[Term]
id: HP:0012646
name: Retractile testis
def: "A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex." [HPO:probinson, pmid:23061004, pmid:4380054]
synonym: "Retractile testicle" EXACT []
xref: SNOMEDCT_US:21779006
xref: UMLS:C0520578
is_a: HP:0000035 ! Abnormal testis morphology
created_by: peter
creation_date: 2014-02-01T12:57:41Z

[Term]
id: HP:0012647
name: Abnormal inflammatory response
def: "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [MONARCH:mhaendel]
synonym: "Abnormal inflammatory response" EXACT layperson []
xref: UMLS:C4022805
is_a: HP:0010978 ! Abnormality of immune system physiology
created_by: peter
creation_date: 2014-02-01T01:25:42Z

[Term]
id: HP:0012648
name: Decreased inflammatory response
def: "An abnormal reduction in the inflammatory response to injury or infection." [MONARCH:mhaendel]
synonym: "Decreased inflammatory response" EXACT layperson []
xref: UMLS:C4022804
is_a: HP:0012647 ! Abnormal inflammatory response
created_by: peter
creation_date: 2014-02-01T01:29:24Z

[Term]
id: HP:0012649
name: Increased inflammatory response
def: "A abnormal increase in the inflammatory response to injury or infection." [MONARCH:mhaendel]
xref: UMLS:C4022803
is_a: HP:0012647 ! Abnormal inflammatory response
created_by: peter
creation_date: 2014-02-01T01:29:58Z

[Term]
id: HP:0012650
name: Perisylvian polymicrogyria
def: "Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly." [COST:neuromig, HPO:probinson, pmid:15159468, PMID:20301504]
comment: The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly.
xref: UMLS:C3279675
is_a: HP:0002126 ! Polymicrogyria
created_by: peter
creation_date: 2014-02-06T07:47:51Z

[Term]
id: HP:0012651
name: Abasia
def: "A severe form of gait ataxia such that an affected person cannot walk at all." [HPO:probinson]
xref: UMLS:C0877217
is_a: HP:0002066 ! Gait ataxia
created_by: peter
creation_date: 2014-02-06T07:52:50Z

[Term]
id: HP:0012652
name: Exercise-induced asthma
def: "Asthma attacks following exercise." [HPO:probinson]
synonym: "Exercise-induced asthma" EXACT layperson []
xref: MSH:D001250
xref: SNOMEDCT_US:31387002
xref: UMLS:C0004099
is_a: HP:0002099 ! Asthma
created_by: peter
creation_date: 2014-02-12T10:42:14Z

[Term]
id: HP:0012653
name: Status asthmaticus
def: "Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine." [HPO:probinson, pmid:22794687]
synonym: "Acute severe asthma" EXACT layperson []
xref: MSH:D013224
xref: SNOMEDCT_US:708090002
xref: UMLS:C0038218
is_a: HP:0002099 ! Asthma
created_by: peter
creation_date: 2014-02-12T10:43:34Z

[Term]
id: HP:0012654
name: Abnormal CSF dopamine level
def: "Abnormal concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel]
xref: UMLS:C4022802
is_a: HP:0025454 ! Abnormal CSF metabolite level
created_by: peter
creation_date: 2014-02-15T10:35:24Z

[Term]
id: HP:0012655
name: Elevated CSF dopamine level
def: "Increased concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel]
xref: UMLS:C4022801
is_a: HP:0012654 ! Abnormal CSF dopamine level
created_by: peter
creation_date: 2014-02-15T10:36:53Z

[Term]
id: HP:0012656
name: Reduced CSF dopamine level
def: "Decreased concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel]
xref: UMLS:C4022800
is_a: HP:0012654 ! Abnormal CSF dopamine level
created_by: peter
creation_date: 2014-02-15T10:37:27Z

[Term]
id: HP:0012657
name: Abnormal brain positron emission tomography
def: "A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain." [HPO:probinson]
comment: Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639).
synonym: "Abnormal brain PET scan" EXACT HP:0045077 []
xref: UMLS:C4022799
is_a: HP:0410263 ! Brain imaging abnormality
created_by: peter
creation_date: 2014-02-15T11:22:18Z

[Term]
id: HP:0012658
name: Abnormal brain FDG positron emission tomography
def: "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity." [HPO:probinson]
synonym: "Abnormal brain FDG PET scan" EXACT HP:0045077 []
xref: UMLS:C4022798
is_a: HP:0012657 ! Abnormal brain positron emission tomography
created_by: peter
creation_date: 2014-02-15T11:29:38Z

[Term]
id: HP:0012659
name: Prefrontal hypometabolism in FDG PET
def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, pmid:23585882]
comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex.
xref: UMLS:C4022797
is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography
created_by: peter
creation_date: 2014-02-15T11:33:12Z

[Term]
id: HP:0012660
name: Thalamic hypometabolism in FDG PET
def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan." [HPO:probinson]
comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus.
xref: UMLS:C4022796
is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography
created_by: peter
creation_date: 2014-02-15T11:35:25Z

[Term]
id: HP:0012661
name: Hypothalamic hypometabolism in FDG PET
def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan." [HPO:probinson]
comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus.
xref: UMLS:C4022795
is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography
created_by: peter
creation_date: 2014-02-15T11:37:59Z

[Term]
id: HP:0012662
name: Parietal hypometabolism in FDG PET
def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, pmid:15073255]
comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex.
xref: UMLS:C4022794
is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography
created_by: peter
creation_date: 2014-02-15T11:45:41Z

[Term]
id: HP:0012663
name: Mildly reduced ejection fraction
def: "A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a mild reduction is defined as 45-54 percent." [HPO:probinson, pmid:16376782]
xref: UMLS:C4022793
is_a: HP:0012664 ! Reduced ejection fraction
created_by: peter
creation_date: 2014-02-15T01:06:28Z

[Term]
id: HP:0012664
name: Reduced ejection fraction
def: "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle." [HPO:probinson]
comment: The normal range is at least 55 percent.
xref: UMLS:C4022792
is_a: HP:0003116 ! Abnormal echocardiogram
is_a: HP:0025169 ! Left ventricular systolic dysfunction
created_by: peter
creation_date: 2014-02-15T01:03:37Z

[Term]
id: HP:0012665
name: Moderately reduced ejection fraction
def: "A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a moderate reduction is defined as 30-44 percent." [HPO:probinson, pmid:16376782]
xref: UMLS:C4022791
is_a: HP:0012664 ! Reduced ejection fraction
created_by: peter
creation_date: 2014-02-15T01:08:33Z

[Term]
id: HP:0012666
name: Severely reduced ejection fraction
def: "A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a moderate reduction is defined as less than 30 percent." [HPO:probinson, pmid:16376782]
xref: UMLS:C4022790
is_a: HP:0012664 ! Reduced ejection fraction
created_by: peter
creation_date: 2014-02-15T01:09:02Z

[Term]
id: HP:0012667
name: Regional left ventricular wall motion abnormality
def: "An abnormal motion of a segment of the left ventricle during the cardiac cycle." [HPO:probinson]
comment: This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion.
xref: UMLS:C4022789
is_a: HP:0003116 ! Abnormal echocardiogram
created_by: peter
creation_date: 2014-02-15T01:12:48Z

[Term]
id: HP:0012668
name: Vasovagal syncope
synonym: "Neurocardiogenic syncope" EXACT []
synonym: "Reflex syncope" EXACT []
synonym: "Situational syncope" EXACT []
xref: MSH:D013575
xref: MSH:D019462
xref: SNOMEDCT_US:234167006
xref: SNOMEDCT_US:398652001
xref: SNOMEDCT_US:398665005
xref: UMLS:C0042420
xref: UMLS:C0340854
is_a: HP:0001279 ! Syncope
created_by: peter
creation_date: 2014-02-15T01:33:13Z

[Term]
id: HP:0012669
name: Carotid sinus syncope
def: "An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion." [HPO:probinson]
comment: Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving).
xref: MSH:D013575
xref: SNOMEDCT_US:51723007
xref: UMLS:C0221046
is_a: HP:0001279 ! Syncope
created_by: peter
creation_date: 2014-02-15T01:39:14Z

[Term]
id: HP:0012670
name: Orthostatic syncope
def: "Syncope following a quick change in position from lying down to standing." [HPO:probinson]
xref: UMLS:C0749201
is_a: HP:0001279 ! Syncope
created_by: peter
creation_date: 2014-02-15T01:41:57Z

[Term]
id: HP:0012671
name: Abulia
def: "Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency." [HPO:probinson, pmid:16030444, UToronto:HTrang]
comment: Abulia is less severe thana kinetic mutism, and more so than apathy.
synonym: "Aboulia" EXACT []
xref: UMLS:C0919974
is_a: HP:0000745 ! Diminished motivation
created_by: peter
creation_date: 2014-02-27T10:48:32Z

[Term]
id: HP:0012672
name: Akinetic mutism
def: "Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking." [HPO:probinson]
xref: MSH:D000405
xref: SNOMEDCT_US:53333005
xref: UMLS:C0001889
is_a: HP:0000745 ! Diminished motivation
created_by: peter
creation_date: 2014-02-27T10:50:59Z

[Term]
id: HP:0012673
name: Aplasia of the upper vagina
def: "A failure to develop of the upper vagina." [HPO:probinson]
comment: The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia.
synonym: "Absent upper vagina" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022788
is_a: HP:0003250 ! Aplasia of the vagina
created_by: peter
creation_date: 2014-02-27T11:00:26Z

[Term]
id: HP:0012674
name: Aplasia of the lower vagina
def: "A failure to develop of the lower part of the vagina." [HPO:probinson]
synonym: "Absent lower vagina" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Agenesis of the lower vagina" EXACT []
xref: SNOMEDCT_US:253834007
xref: UMLS:C0431646
is_a: HP:0003250 ! Aplasia of the vagina
created_by: peter
creation_date: 2014-02-27T11:09:14Z

[Term]
id: HP:0012675
name: Iron accumulation in brain
def: "An abnormal build up of iron (Fe) in brain tissue." [HPO:probinson]
synonym: "Brain iron deposition" EXACT []
synonym: "Iron accumulation in brain" EXACT layperson []
xref: UMLS:C4021076
is_a: HP:0012443 ! Abnormality of brain morphology
created_by: hecht
creation_date: 2014-03-13T07:22:40Z

[Term]
id: HP:0012676
name: Copper accumulation in brain
def: "An anomalous build up of copper (Cu) in the brain." [HPO:probinson]
synonym: "Brain copper accumulation" EXACT []
synonym: "Copper accumulation in brain" EXACT layperson []
xref: UMLS:C4022787
is_a: HP:0012443 ! Abnormality of brain morphology
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
creation_date: 2014-03-13T07:28:03Z

[Term]
id: HP:0012677
name: Iron accumulation in globus pallidus
def: "An abnormal build up of iron (Fe) in the globus pallidus." [HPO:probinson]
xref: UMLS:C4022786
is_a: HP:0002453 ! Abnormal globus pallidus morphology
is_a: HP:0012675 ! Iron accumulation in brain
created_by: hecht
creation_date: 2014-03-13T07:29:37Z

[Term]
id: HP:0012678
name: Iron accumulation in substantia nigra
def: "An anomalous build up of iron (Fe) in the substantia nigra." [HPO:probinson]
xref: UMLS:C4022785
is_a: HP:0012675 ! Iron accumulation in brain
is_a: HP:0045007 ! Abnormality of the substantia nigra
created_by: hecht
creation_date: 2014-03-13T07:29:54Z

[Term]
id: HP:0012679
name: Widened interpedicular distance
def: "An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [UToronto:htrang]
xref: UMLS:C4022784
is_a: HP:0008438 ! Vertebral arch anomaly
created_by: peter
creation_date: 2014-03-22T12:41:17Z

[Term]
id: HP:0012680
name: Abnormality of the pineal gland
def: "An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin." [HPO:probinson]
xref: UMLS:C4022783
is_a: HP:0000818 ! Abnormality of the endocrine system
created_by: peter
creation_date: 2014-03-22T12:46:36Z

[Term]
id: HP:0012681
name: Abnormality of pineal morphology
def: "A structural abnormality of the pineal gland." [UToronto:htrang]
comment: The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies.
xref: UMLS:C4022782
is_a: HP:0012443 ! Abnormality of brain morphology
is_a: HP:0012680 ! Abnormality of the pineal gland
created_by: peter
creation_date: 2014-03-22T12:50:21Z

[Term]
id: HP:0012682
name: Pineal gland calcification
def: "Accumulation of calcium salts in the pineal gland." [HPO:probinson]
comment: This feature can be appreciated on skull radiography.
xref: UMLS:C1398718
is_a: HP:0012681 ! Abnormality of pineal morphology
created_by: peter
creation_date: 2014-03-22T12:51:57Z

[Term]
id: HP:0012683
name: Pineal cyst
def: "A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland." [HPO:probinson, pmid:21801982]
comment: Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging.
xref: SNOMEDCT_US:413099000
xref: UMLS:C1335411
is_a: HP:0012681 ! Abnormality of pineal morphology
created_by: peter
creation_date: 2014-03-22T01:01:45Z

[Term]
id: HP:0012684
name: Abnormal pineal volume
def: "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland." [UToronto:htrang]
comment: This feature is typically assessed by magnetic resonance tomography of the brain.
xref: UMLS:C4022781
is_a: HP:0012681 ! Abnormality of pineal morphology
created_by: peter
creation_date: 2014-03-22T01:08:48Z

[Term]
id: HP:0012685
name: Decreased pineal volume
def: "An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland." [pmid:24456088, UToronto:htrang]
xref: UMLS:C4022780
is_a: HP:0012684 ! Abnormal pineal volume
created_by: peter
creation_date: 2014-03-22T01:10:12Z

[Term]
id: HP:0012686
name: Increased pineal volume
def: "An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland." [UToronto:htrang]
xref: UMLS:C4022779
is_a: HP:0012684 ! Abnormal pineal volume
created_by: peter
creation_date: 2014-03-22T01:11:33Z

[Term]
id: HP:0012687
name: Agenesis of pineal gland
def: "Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present." [UToronto:htrang]
xref: UMLS:C3553078
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0012681 ! Abnormality of pineal morphology
created_by: peter
creation_date: 2014-03-22T01:13:13Z

[Term]
id: HP:0012688
name: Abnormality of pineal physiology
def: "A functional abnormality of the pineal gland." [UToronto:htrang]
xref: UMLS:C4022778
is_a: HP:0012638 ! Abnormality of nervous system physiology
is_a: HP:0012680 ! Abnormality of the pineal gland
created_by: peter
creation_date: 2014-03-22T01:15:36Z

[Term]
id: HP:0012689
name: Abnormal pineal melatonin secretion
def: "An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland." [pmid:22724080, UToronto:htrang]
comment: The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2.
xref: UMLS:C4022777
is_a: HP:0012688 ! Abnormality of pineal physiology
created_by: peter
creation_date: 2014-03-22T01:16:40Z

[Term]
id: HP:0012690
name: T2 hypointense thalamus
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus." [HPO:probinson]
xref: UMLS:C4022776
is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity
created_by: peter
creation_date: 2014-03-22T04:32:50Z

[Term]
id: HP:0012691
name: Focal T2 hypointense thalamic lesion
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus." [HPO:probinson]
xref: UMLS:C4022775
is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity
created_by: peter
creation_date: 2014-03-22T04:52:32Z

[Term]
id: HP:0012692
name: Focal T2 hyperintense thalamic lesion
def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus." [HPO:probinson]
comment: The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis.
xref: UMLS:C4022774
is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity
created_by: peter
creation_date: 2014-03-22T04:54:03Z

[Term]
id: HP:0012693
name: Abnormal thalamic size
def: "Deviation from the normal range of size of the thalamus." [UToronto:htrang]
xref: UMLS:C4022773
is_a: HP:0010663 ! Abnormality of thalamus morphology
created_by: peter
creation_date: 2014-03-22T05:45:51Z

[Term]
id: HP:0012694
name: Enlarged thalamic volume
def: "An increase in the quantity of space occupied by the thalamus." [UToronto:htrang]
xref: UMLS:C4022772
is_a: HP:0012693 ! Abnormal thalamic size
created_by: peter
creation_date: 2014-03-22T05:47:14Z

[Term]
id: HP:0012695
name: Decreased thalamic volume
def: "A reduction in the quantity of space occupied by the thalamus." [UToronto:htrang]
xref: UMLS:C4022771
is_a: HP:0012693 ! Abnormal thalamic size
created_by: peter
creation_date: 2014-03-22T05:48:28Z

[Term]
id: HP:0012696
name: Abnormal thalamic MRI signal intensity
def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus." [HPO:probinson]
xref: UMLS:C4022770
is_a: HP:0010663 ! Abnormality of thalamus morphology
created_by: peter
creation_date: 2014-03-22T05:49:08Z

[Term]
id: HP:0012697
name: Small basal ganglia
def: "Decreased size of the basal ganglia." [HPO:probinson]
xref: UMLS:C4022769
is_a: HP:0002134 ! Abnormality of the basal ganglia
created_by: peter
creation_date: 2014-03-22T06:01:22Z

[Term]
id: HP:0012698
name: Cerebellar gliosis
def: "Focal proliferation of glial cells in the cerebellum." [UToronto:htrang]
xref: UMLS:C4022768
is_a: HP:0001317 ! Abnormal cerebellum morphology
is_a: HP:0002171 ! Gliosis
created_by: peter
creation_date: 2014-03-22T06:03:03Z

[Term]
id: HP:0012699
name: Anomaly of lower limb diaphyses
def: "A structural abnormality of a diaphysis of the leg." [UToronto:htrang]
synonym: "Anomaly of shaft of long bone of lower limb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022767
is_a: HP:0006504 ! Anomaly of the limb diaphyses
created_by: peter
creation_date: 2014-03-22T06:14:15Z

[Term]
id: HP:0012700
name: Abnormal large intestine physiology
def: "A functional anomaly of the large intestine." [HPO:probinson]
xref: UMLS:C4022766
is_a: HP:0025032 ! Abnormality of digestive system physiology
created_by: peter
creation_date: 2014-03-22T06:20:38Z

[Term]
id: HP:0012701
name: Bowel urgency
def: "A sudden, irresistible need to have a bowel movement." [UToronto:htrang]
synonym: "Fecal urgency" EXACT []
xref: SNOMEDCT_US:71820002
xref: UMLS:C0426636
is_a: HP:0012700 ! Abnormal large intestine physiology
created_by: peter
creation_date: 2014-03-22T06:22:14Z

[Term]
id: HP:0012702
name: Tenesmus
def: "A repeated, painful urge to defecate without excreting stool." [HPO:probinson]
xref: SNOMEDCT_US:267053000
xref: SNOMEDCT_US:6548007
xref: UMLS:C0232726
is_a: HP:0012700 ! Abnormal large intestine physiology
created_by: peter
creation_date: 2014-03-22T06:23:05Z

[Term]
id: HP:0012703
name: Abnormal subarachnoid space morphology
def: "Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid." [UToronto:htrang]
synonym: "Abnormality of the subarachnoid space" EXACT []
xref: UMLS:C4022765
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
created_by: peter
creation_date: 2014-03-22T07:45:24Z

[Term]
id: HP:0012704
name: Widened subarachnoid space
def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater." [HPO:probinson]
synonym: "Enlarged subarachnoid space" EXACT []
synonym: "Widened subarachnoid spaces" RELATED [HPO:skoehler]
xref: UMLS:C1846151
is_a: HP:0012703 ! Abnormal subarachnoid space morphology
created_by: peter
creation_date: 2014-03-22T07:59:21Z

[Term]
id: HP:0012705
name: Abnormal metabolic brain imaging by MRS
def: "An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO:probinson]
comment: MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine.
xref: UMLS:C4022764
is_a: HP:0410263 ! Brain imaging abnormality
created_by: peter
creation_date: 2014-03-22T08:04:18Z

[Term]
id: HP:0012706
name: Elevated brain choline level by MRS
def: "An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang]
comment: The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue.
xref: UMLS:C4022763
is_a: HP:0025047 ! Abnormal brain choline level by MRS
created_by: peter
creation_date: 2014-03-22T08:06:29Z

[Term]
id: HP:0012707
name: Elevated brain lactate level by MRS
def: "An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang]
comment: Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumours. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid.
xref: UMLS:C4022762
is_a: HP:0025045 ! Abnormal brain lactate level by MRS
created_by: peter
creation_date: 2014-03-22T08:08:20Z

[Term]
id: HP:0012708
name: Reduced brain N-acetyl aspartate level by MRS
def: "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang]
comment: N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra.
synonym: "Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT []
xref: UMLS:C4022761
is_a: HP:0025052 ! Abnormal brain N-acetyl aspartate level by MRS
created_by: peter
creation_date: 2014-03-22T08:09:12Z

[Term]
id: HP:0012709
name: Abnormal brain choline/creatine ratio by MRS
def: "A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang]
comment: Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization.
xref: UMLS:C4022760
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
created_by: peter
creation_date: 2014-03-22T08:12:15Z

[Term]
id: HP:0012710
name: Ingrown nail
def: "Excessive growth of a nail laterally into the nail fold." [HPO:probinson]
synonym: "Ingrown nail" EXACT layperson []
xref: MSH:D009263
xref: SNOMEDCT_US:400097005
xref: SNOMEDCT_US:400200009
xref: UMLS:C0027343
is_a: HP:0001597 ! Abnormality of the nail
created_by: peter
creation_date: 2014-03-23T12:09:47Z

[Term]
id: HP:0012711
name: Delayed ossification of vertebral epiphysis
def: "A delay in the process of formation and maturation of the epiphysis of one or more vertebrae." [HPO:probinson]
synonym: "Delayed maturation of the end part of the vertebral bone" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022759
xref: UMLS:C4280312
is_a: HP:0100569 ! Abnormally ossified vertebrae
created_by: peter
creation_date: 2014-03-23T12:27:51Z

[Term]
id: HP:0012712
name: Mild hearing impairment
def: "The presence of a mild form of hearing impairment." [HPO:probinson]
synonym: "Mild hearing impairment" EXACT layperson []
xref: UMLS:C4022758
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2014-03-23T12:33:46Z

[Term]
id: HP:0012713
name: Moderate hearing impairment
def: "The presence of a moderate form of hearing impairment." [HPO:probinson]
synonym: "Moderate hearing impairment" EXACT layperson []
xref: UMLS:C4022757
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2014-03-23T12:35:59Z

[Term]
id: HP:0012714
name: Severe hearing impairment
def: "A severe form of hearing impairment." [HPO:probinson]
synonym: "Severe deafness" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Severe hearing impairment" EXACT layperson []
synonym: "Severe hearing loss" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:3561000119106
xref: UMLS:C3874334
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2014-03-23T12:37:33Z

[Term]
id: HP:0012715
name: Profound hearing impairment
def: "A profound (essentially complete) form of hearing impairment." [HPO:probinson]
synonym: "Profound hearing impairment" EXACT layperson []
xref: UMLS:C4022756
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2014-03-23T12:38:39Z

[Term]
id: HP:0012716
name: Moderate conductive hearing impairment
def: "The presence of a moderate form of conductive hearing impairment." [HPO:probinson]
comment: Conductive hearing impairment with 21-40 dB deficit.
synonym: "Conductive hearing loss, moderate" EXACT []
xref: UMLS:C4021075
is_a: HP:0000405 ! Conductive hearing impairment
is_a: HP:0012712 ! Mild hearing impairment
is_a: HP:0012713 ! Moderate hearing impairment
created_by: peter
creation_date: 2014-03-23T12:40:05Z

[Term]
id: HP:0012717
name: Severe conductive hearing impairment
def: "A severe form of conductive hearing impairment." [HPO:probinson]
comment: Conductive hearing impairment with 21-40 dB deficit.
synonym: "Conductive hearing loss, severe" EXACT []
xref: UMLS:C4021074
is_a: HP:0000405 ! Conductive hearing impairment
is_a: HP:0012712 ! Mild hearing impairment
is_a: HP:0012714 ! Severe hearing impairment
created_by: peter
creation_date: 2014-03-23T12:40:51Z

[Term]
id: HP:0012718
name: Morphological abnormality of the gastrointestinal tract
def: "Abnormal structure of the gastrointestinal tract." [HPO:probinson]
synonym: "Abnormal shape of the digestive system" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Morphological abnormality of the GI tract" EXACT HP:0045077 []
synonym: "Morphological anomaly of the digestive system" EXACT []
xref: UMLS:C4021073
is_a: HP:0011024 ! Abnormality of the gastrointestinal tract
is_a: HP:0025033 ! Abnormality of digestive system morphology
created_by: peter
creation_date: 2014-03-23T01:09:02Z

[Term]
id: HP:0012719
name: Functional abnormality of the gastrointestinal tract
def: "Abnormal functionality of the gastrointestinal tract." [HPO:probinson]
synonym: "Functional abnormality of the GI tract" EXACT HP:0045077 []
synonym: "GI dysfunction" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: UMLS:C4022755
is_a: HP:0011024 ! Abnormality of the gastrointestinal tract
is_a: HP:0025032 ! Abnormality of digestive system physiology
created_by: peter
creation_date: 2014-03-23T01:10:47Z

[Term]
id: HP:0012720
name: Neoplasm of the nose
alt_id: HP:0100637
def: "Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity." [HPO:probinson]
synonym: "Nasal neoplasm" EXACT []
synonym: "Nasal tumor" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Neoplasia of the nose" EXACT []
synonym: "Nose cancer" EXACT layperson []
synonym: "Tumor of the nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D009669
xref: NCIT:C3262
xref: SNOMEDCT_US:126669004
xref: UMLS:C0028433
xref: UMLS:C0751394
is_a: HP:0012289 ! Facial neoplasm
is_a: HP:0100630 ! Neoplasia of the nasopharynx
created_by: peter
creation_date: 2014-03-23T01:16:06Z

[Term]
id: HP:0012721
name: Venous malformation
def: "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [HPO:probinson]
comment: Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk.
synonym: "Venous malformations" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:297222002
xref: UMLS:C2937220
is_a: HP:0002624 ! Abnormal venous morphology
created_by: peter
creation_date: 2014-03-23T01:20:33Z

[Term]
id: HP:0012722
name: Heart block
def: "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway." [HPO:probinson]
xref: MSH:D006327
xref: SNOMEDCT_US:233916004
xref: UMLS:C0018794
is_a: HP:0031546 ! Cardiac conduction abnormality
created_by: peter
creation_date: 2014-03-23T01:32:14Z

[Term]
id: HP:0012723
name: Sinoatrial block
def: "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria." [HPO:probinson]
comment: Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography.
xref: Fyler:7014
xref: MSH:D012848
xref: SNOMEDCT_US:65778007
xref: UMLS:C0037188
is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin
is_a: HP:0012722 ! Heart block
created_by: peter
creation_date: 2014-03-23T01:34:01Z

[Term]
id: HP:0012724
name: Upper eyelid edema
def: "Edema in the region of the upper eyelid." [HPO:probinson]
synonym: "Cellulitis of upper eyelid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Fullness of upper eyelid" EXACT layperson []
synonym: "Puffiness of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Swelling of upper eyelid" EXACT layperson []
xref: SNOMEDCT_US:700339006
xref: UMLS:C2025988
xref: UMLS:C3839407
is_a: HP:0100540 ! Palpebral edema
created_by: peter
creation_date: 2014-03-23T01:38:57Z

[Term]
id: HP:0012725
name: Cutaneous syndactyly
def: "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits." [HPO:probinson]
synonym: "Cutaneous syndactyly of digits" EXACT []
synonym: "Syndactyly, cutaneous" EXACT []
xref: UMLS:C1861921
is_a: HP:0001159 ! Syndactyly
created_by: peter
creation_date: 2014-03-23T01:40:45Z

[Term]
id: HP:0012726
name: Episodic hypokalemia
def: "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson]
synonym: "Recurrent low potassium" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022754
is_a: HP:0002900 ! Hypokalemia
created_by: peter
creation_date: 2014-03-23T02:08:24Z

[Term]
id: HP:0012727
name: Thoracic aortic aneurysm
def: "An abnormal localized widening (dilatation) of the thoracic aorta." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Dilatation of the thoracic aorta" BROAD []
xref: MSH:D017545
xref: SNOMEDCT_US:433068007
xref: UMLS:C0162872
is_a: HP:0004942 ! Aortic aneurysm
created_by: peter
creation_date: 2014-03-23T02:22:20Z

[Term]
id: HP:0012728
name: Fusiform descending thoracic aortic aneurysm
def: "A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall" [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Dilatation of the fusiform descending thoracic aorta" BROAD []
xref: UMLS:C4022753
is_a: HP:0004959 ! Descending thoracic aorta aneurysm
created_by: peter
creation_date: 2014-03-23T02:26:12Z

[Term]
id: HP:0012729
name: Saccular descending thoracic aortic aneurysm
def: "An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall" [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Dilatation of the saccular descending thoracic aorta" BROAD []
xref: UMLS:C4022752
is_a: HP:0004959 ! Descending thoracic aorta aneurysm
created_by: peter
creation_date: 2014-03-23T02:27:11Z

[Term]
id: HP:0012730
name: Aglossia
def: "Absence of the tongue owing to a developmental abnormality." [HPO:probinson]
synonym: "Absence of tongue" EXACT []
synonym: "Failure of development of tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing tongue" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:74788000
xref: UMLS:C0158663
is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue
created_by: peter
creation_date: 2014-03-23T02:30:53Z

[Term]
id: HP:0012731
name: Ectopic anterior pituitary gland
alt_id: HP:0011765
def: "Abnormal anatomic location of the anterior pituitary gland." [HPO:probinson]
xref: UMLS:C4022751
is_a: HP:0011747 ! Abnormality of the anterior pituitary
created_by: peter
creation_date: 2014-03-23T02:41:41Z

[Term]
id: HP:0012732
name: Anorectal anomaly
def: "An abnormality of the anus or rectum." [HPO:probinson]
xref: MSH:D000071056
xref: SNOMEDCT_US:33225004
xref: UMLS:C3495676
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract
created_by: peter
creation_date: 2014-03-23T02:48:00Z

[Term]
id: HP:0012733
name: Macule
def: "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson]
synonym: "Flat, discolored area of skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:112629002
xref: UMLS:C0332573
is_a: HP:0011355 ! Localized skin lesion
created_by: peter
creation_date: 2014-03-23T02:54:25Z

[Term]
id: HP:0012734
name: Ketotic hypoglycemia
def: "Low blood glucose is accompanied by elevated levels of ketone bodies in the body." [HPO:probinson]
synonym: "Ketotic low blood sugar" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:20825002
xref: UMLS:C0271713
is_a: HP:0001943 ! Hypoglycemia
created_by: peter
creation_date: 2014-03-23T03:00:50Z

[Term]
id: HP:0012735
name: Cough
def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson, PMID:17540788]
comment: The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). There is agreement that an actue cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks.
synonym: "Cough" EXACT layperson []
synonym: "Coughing" EXACT layperson []
xref: MSH:D003371
xref: SNOMEDCT_US:263731006
xref: SNOMEDCT_US:272039006
xref: SNOMEDCT_US:49727002
xref: UMLS:C0010200
is_a: HP:0002795 ! Functional respiratory abnormality
created_by: peter
creation_date: 2014-03-23T03:19:50Z

[Term]
id: HP:0012736
name: Profound global developmental delay
def: "A profound delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth]
synonym: "Psychomotor retardation, profound" RELATED [HPO:skoehler]
xref: UMLS:C1855773
xref: UMLS:C3553450
is_a: HP:0001263 ! Global developmental delay
created_by: peter
creation_date: 2014-03-23T03:21:25Z

[Term]
id: HP:0012737
name: Small intestinal polyp
def: "A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [HPO:probinson]
xref: SNOMEDCT_US:399723004
xref: UMLS:C1302645
is_a: HP:0005266 ! Intestinal polyp
is_a: HP:0100833 ! Neoplasm of the small intestine
created_by: peter
creation_date: 2014-03-23T03:50:25Z

[Term]
id: HP:0012738
name: Agenesis of canine
def: "Agenesis of canine tooth." [HPO:probinson]
synonym: "Absence of canine" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of eye tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absent canines" EXACT layperson []
synonym: "Failure of development of canine" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of eye tooth" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing canine" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing eye tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021072
xref: UMLS:C4280311
is_a: HP:0001592 ! Selective tooth agenesis
is_a: HP:0011078 ! Abnormality of canine
created_by: peter
creation_date: 2014-03-23T04:26:04Z

[Term]
id: HP:0012739
name: Agenesis of the small intestine
def: "Failure to develop of the small intestine." [HPO:probinson]
synonym: "Small bowel agenesis" EXACT []
synonym: "Undeveloped small intestine" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4021071
is_a: HP:0002244 ! Abnormality of the small intestine
created_by: peter
creation_date: 2014-03-23T04:28:53Z

[Term]
id: HP:0012740
name: Papilloma
def: "A tumor of the skin or mucous membrane with finger-like projections." [HPO:probinson]
comment: The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts.
xref: MSH:D010212
xref: SNOMEDCT_US:23730008
xref: SNOMEDCT_US:711329002
xref: UMLS:C0030354
is_a: HP:0008069 ! Neoplasm of the skin
created_by: peter
creation_date: 2014-03-23T04:36:41Z

[Term]
id: HP:0012741
name: Unilateral cryptorchidism
def: "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [HPO:probinson]
synonym: "Cryptorchidism, unilateral" EXACT []
xref: MSH:D003456
xref: SNOMEDCT_US:268227001
xref: UMLS:C0431664
is_a: HP:0000028 ! Cryptorchidism
created_by: peter
creation_date: 2014-03-23T04:41:57Z

[Term]
id: HP:0012742
name: Thin fingernail
alt_id: HP:0040037
def: "Fingernail that appears thin when viewed on end." [HPO:probinson, pmid:19125433]
comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified.
synonym: "Thin fingernail" EXACT layperson []
xref: UMLS:C4022750
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0001816 ! Thin nail
created_by: peter
creation_date: 2014-03-23T04:47:40Z

[Term]
id: HP:0012743
name: Abdominal obesity
def: "Excessive fat around the stomach and abdomen." [HPO:probinson]
synonym: "Abdominal obesity" EXACT layperson []
synonym: "Central obesity" EXACT layperson [HPO:skoehler]
xref: MSH:D056128
xref: SNOMEDCT_US:248311001
xref: UMLS:C0311277
is_a: HP:0001513 ! Obesity
created_by: peter
creation_date: 2014-03-23T05:00:05Z

[Term]
id: HP:0012744
name: Femoral aplasia
def: "Failure of the femur to develop." [HPO:probinson]
synonym: "Absent femur" EXACT []
synonym: "Absent thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the femur" EXACT []
xref: SNOMEDCT_US:47276000
xref: UMLS:C0265629
is_a: HP:0005613 ! Aplasia/hypoplasia of the femur
created_by: peter
creation_date: 2014-03-23T05:14:34Z

[Term]
id: HP:0012745
name: Short palpebral fissure
def: "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427]
subset: hposlim_core
synonym: "Decreased height of palpebral fissure" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Short opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short palpebral fissures" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:246802000
xref: UMLS:C0423112
is_a: HP:0200007 ! Abnormal size of the palpebral fissures
created_by: peter
creation_date: 2014-03-23T05:27:40Z

[Term]
id: HP:0012746
name: Thin toenail
alt_id: HP:0040038
def: "Toenail that appears thin when viewed on end." [HPO:probinson, pmid:19125433]
comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified.
synonym: "Thin toenail" EXACT layperson []
synonym: "Thin toenails" RELATED layperson [HPO:skoehler]
xref: UMLS:C3554113
is_a: HP:0001816 ! Thin nail
is_a: HP:0008388 ! Abnormal toenail morphology
created_by: peter
creation_date: 2014-03-23T05:34:43Z

[Term]
id: HP:0012747
name: Abnormal brainstem MRI signal intensity
def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem." [UToronto:htrang]
xref: UMLS:C4022749
is_a: HP:0002363 ! Abnormality of brainstem morphology
created_by: peter
creation_date: 2014-03-30T06:41:13Z

[Term]
id: HP:0012748
name: Focal T2 hyperintense brainstem lesion
def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem." [UToronto:htrang]
xref: UMLS:C4022748
is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity
created_by: peter
creation_date: 2014-03-30T06:43:06Z

[Term]
id: HP:0012749
name: Focal T2 hypointense brainstem lesion
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." [UToronto:htrang]
xref: UMLS:C4022747
is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity
created_by: peter
creation_date: 2014-03-30T06:43:56Z

[Term]
id: HP:0012750
name: T2 hypointense brainstem
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem." [UToronto:htrang]
xref: UMLS:C4022746
is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity
created_by: peter
creation_date: 2014-03-30T06:44:29Z

[Term]
id: HP:0012751
name: Abnormal basal ganglia MRI signal intensity
def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia." [UToronto:htrang]
xref: UMLS:C4022745
is_a: HP:0002134 ! Abnormality of the basal ganglia
created_by: peter
creation_date: 2014-03-30T06:47:28Z

[Term]
id: HP:0012752
name: Focal T2 hypointense basal ganglia lesion
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia." [HPO:probinson]
xref: UMLS:C4022744
is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity
created_by: peter
creation_date: 2014-03-30T06:52:14Z

[Term]
id: HP:0012753
name: T2 hypointense basal ganglia
def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia." [HPO:probinson]
xref: UMLS:C4022743
is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity
created_by: peter
creation_date: 2014-03-30T06:52:42Z

[Term]
id: HP:0012754
name: CNS hypermyelination
def: "Increased amount of myelin in the central nervous system." [UToronto:htrang]
xref: UMLS:C4022742
is_a: HP:0011400 ! Abnormal CNS myelination
created_by: peter
creation_date: 2014-03-30T07:15:56Z

[Term]
id: HP:0012755
name: Enlarged brainstem
def: "Abnormal increase in size of the brainstem." [UToronto:htrang]
comment: An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process.
xref: UMLS:C4022741
is_a: HP:0002363 ! Abnormality of brainstem morphology
created_by: peter
creation_date: 2014-03-30T07:23:06Z

[Term]
id: HP:0012756
name: CSF polymorphonuclear pleocytosis
def: "An increased polymorphonuclear cell count in the cerebrospinal fluid." [KI:phemming]
xref: UMLS:C4022740
is_a: HP:0012229 ! CSF pleocytosis
created_by: peter
creation_date: 2014-04-02T01:07:51Z

[Term]
id: HP:0012757
name: Abnormal neuron morphology
def: "A structural anomaly of a neuron." [KI:phemming]
synonym: "Abnormal neuron shape" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal neuronal morphology" EXACT []
xref: UMLS:C4022739
is_a: HP:0012639 ! Abnormality of nervous system morphology
created_by: peter
creation_date: 2014-04-02T05:12:30Z

[Term]
id: HP:0012758
name: Neurodevelopmental delay
xref: UMLS:C4022738
is_a: HP:0012759 ! Neurodevelopmental abnormality
created_by: peter
creation_date: 2014-04-03T12:16:19Z

[Term]
id: HP:0012759
name: Neurodevelopmental abnormality
def: "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." [KI:phemming]
comment: This term should be used to describe abnormalities with onset in the developmental period.
xref: UMLS:C4022737
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: peter
creation_date: 2014-04-03T12:20:28Z

[Term]
id: HP:0012760
name: Impaired social reciprocity
def: "A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first." [KI:phemming]
xref: UMLS:C4022736
is_a: HP:0012433 ! Abnormal social behavior
created_by: peter
creation_date: 2014-04-03T12:52:44Z

[Term]
id: HP:0012761
name: Absent mastoid
alt_id: HP:0200110
def: "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent." [HPO:probinson]
synonym: "Absent mastoids" EXACT []
synonym: "Failure of development of mastoid" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Mastoid agenesis" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021070
is_a: HP:0000264 ! Abnormality of the mastoid
created_by: peter
creation_date: 2014-04-03T01:06:18Z

[Term]
id: HP:0012762
name: Cerebral white matter atrophy
def: "The presence of atrophy (wasting) of the cerebral white matter." [UToronto:htrang]
xref: UMLS:C4022735
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: hecht
creation_date: 2014-04-06T10:55:36Z

[Term]
id: HP:0012763
name: Paroxysmal dyspnea
def: "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson]
comment: Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position.
xref: MSH:D004418
xref: SNOMEDCT_US:59265000
xref: UMLS:C0013405
is_a: HP:0002094 ! Dyspnea
created_by: hecht
creation_date: 2014-04-06T10:58:39Z

[Term]
id: HP:0012764
name: Orthopnea
def: "A sensation of breathlessness in the recumbent position, relieved by sitting or standing." [UToronto:htrang]
xref: SNOMEDCT_US:62744007
xref: UMLS:C0085619
is_a: HP:0002094 ! Dyspnea
created_by: hecht
creation_date: 2014-04-06T11:03:04Z

[Term]
id: HP:0012765
name: Widened cerebellar subarachnoid space
def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum." [UToronto:htrang]
xref: UMLS:C4022734
is_a: HP:0012704 ! Widened subarachnoid space
created_by: hecht
creation_date: 2014-04-06T11:06:46Z

[Term]
id: HP:0012766
name: Widened cerebral subarachnoid space
def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum." [UToronto:htrang]
xref: UMLS:C4022733
is_a: HP:0012704 ! Widened subarachnoid space
created_by: hecht
creation_date: 2014-04-06T11:08:12Z

[Term]
id: HP:0012767
name: Abnormal placental size
def: "A deviation from normal size of the placenta." [HPO:probinson]
xref: UMLS:C4022732
is_a: HP:0100767 ! Abnormality of the placenta
created_by: peter
creation_date: 2014-04-07T12:11:29Z

[Term]
id: HP:0012768
name: Neonatal asphyxia
def: "Respiratory failure in the newborn." [HPO:probinson]
synonym: "Asphyxia neonatorum" EXACT []
xref: MSH:D001238
xref: SNOMEDCT_US:28314004
xref: SNOMEDCT_US:413654009
xref: UMLS:C0004045
is_a: HP:0002643 ! Neonatal respiratory distress
created_by: peter
creation_date: 2014-04-07T12:39:08Z

[Term]
id: HP:0012769
name: Abnormal arm span
def: "A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)" [HPO:probinson]
synonym: "Abnormal arm span" EXACT layperson []
xref: UMLS:C4022731
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: peter
creation_date: 2014-04-07T03:09:08Z

[Term]
id: HP:0012770
name: Reduced arm span
def: "Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [HPO:probinson]
synonym: "Reduced arm span" EXACT layperson []
xref: UMLS:C4022730
is_a: HP:0012769 ! Abnormal arm span
created_by: peter
creation_date: 2014-04-07T03:09:58Z

[Term]
id: HP:0012771
name: Increased arm span
def: "Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [HPO:probinson]
synonym: "Increased arm span" EXACT layperson []
xref: UMLS:C4022729
is_a: HP:0012769 ! Abnormal arm span
created_by: peter
creation_date: 2014-04-07T03:10:35Z

[Term]
id: HP:0012772
name: Abnormal upper to lower segment ratio
def: "A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson]
xref: UMLS:C4022728
is_a: HP:0000002 ! Abnormality of body height
created_by: peter
creation_date: 2014-04-07T03:12:56Z

[Term]
id: HP:0012773
name: Reduced upper to lower segment ratio
def: "Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson]
comment: A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced.
xref: UMLS:C1836996
is_a: HP:0012772 ! Abnormal upper to lower segment ratio
created_by: peter
creation_date: 2014-04-07T03:14:28Z

[Term]
id: HP:0012774
name: Increased upper to lower segment ratio
def: "Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson]
xref: UMLS:C1844571
is_a: HP:0012772 ! Abnormal upper to lower segment ratio
created_by: peter
creation_date: 2014-04-07T03:16:21Z

[Term]
id: HP:0012775
name: Stellate iris
def: "A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel." [CINEAS:asollie]
xref: UMLS:C4022727
is_a: HP:0008034 ! Abnormal iris pigmentation
created_by: peter
creation_date: 2014-04-07T03:54:41Z

[Term]
id: HP:0012776
name: Abnormal ciliary body morphology
def: "A structural anomaly of the ciliary body." [CINEAS:asollie]
synonym: "Abnormality of the ciliary body" EXACT []
xref: UMLS:C4022726
is_a: HP:0000553 ! Abnormal uvea morphology
created_by: peter
creation_date: 2014-04-07T04:00:10Z

[Term]
id: HP:0012777
name: Retinal neoplasm
def: "A tumor (abnormal growth of tissue) of the retina." [CINEAS:asollie]
xref: MSH:D019572
xref: NCIT:C3262
xref: SNOMEDCT_US:127002001
xref: UMLS:C0524801
is_a: HP:0000479 ! Abnormal retinal morphology
is_a: HP:0100012 ! Neoplasm of the eye
created_by: peter
creation_date: 2014-04-07T05:38:24Z

[Term]
id: HP:0012778
name: Retinal astrocytic hamartoma
def: "A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte." [pmid:20435268, pmid:23436975]
comment: Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation.
xref: UMLS:C4022725
is_a: HP:0009594 ! Retinal hamartoma
created_by: peter
creation_date: 2014-04-07T05:38:54Z

[Term]
id: HP:0012779
name: Transient hearing impairment
def: "Hearing loss that occurs acutely and resolves completely." [pmid:21776317]
comment: Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear.
xref: UMLS:C4022724
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2014-04-07T06:09:19Z

[Term]
id: HP:0012780
name: Neoplasm of the ear
def: "A tumor (abnormal growth of tissue) of the ear." [HPO:probinson]
synonym: "Ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D004428
xref: NCIT:C3262
xref: SNOMEDCT_US:363228008
xref: UMLS:C0013449
is_a: HP:0011793 ! Neoplasm by anatomical site
is_a: HP:0031703 ! Abnormal ear morphology
created_by: peter
creation_date: 2014-04-07T06:11:56Z

[Term]
id: HP:0012781
name: Mid-frequency hearing loss
def: "A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)." [HPO:probinson]
xref: UMLS:C4022723
is_a: HP:0000365 ! Hearing impairment
created_by: peter
creation_date: 2014-04-08T11:04:07Z

[Term]
id: HP:0012782
name: Perilobar nephrogenic rest
def: "A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe." [HPO:probinson, pmid:20301471]
comment: Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia.
xref: SNOMEDCT_US:405935000
xref: UMLS:C1319017
is_a: HP:0100880 ! Nephrogenic rest
created_by: peter
creation_date: 2014-04-20T03:23:16Z

[Term]
id: HP:0012783
name: Intralobar nephrogenic rest
def: "A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls." [HPO:probinson, pmid:20301471]
comment: Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS).
xref: SNOMEDCT_US:405934001
xref: UMLS:C1319016
is_a: HP:0100880 ! Nephrogenic rest
created_by: peter
creation_date: 2014-04-20T03:24:35Z

[Term]
id: HP:0012784
name: Perinephritis
def: "Inflammation of the connective and adipose tissues surrounding the kidney." [HPO:probinson]
xref: MSH:D010501
xref: SNOMEDCT_US:111404004
xref: UMLS:C0031065
is_a: HP:0000123 ! Nephritis
created_by: peter
creation_date: 2014-04-20T03:32:07Z

[Term]
id: HP:0012785
name: Flexion contracture of finger
def: "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [HPO:probinson]
comment: Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general.
synonym: "Flexion deformity of finger" EXACT []
xref: UMLS:C1857304
is_a: HP:0009473 ! Joint contracture of the hand
is_a: HP:0030044 ! Flexion contracture of digit
created_by: peter
creation_date: 2014-04-20T04:09:34Z

[Term]
id: HP:0012786
name: Recurrent cystitis
def: "Repeated infections of the urinary bladder." [HPO:probinson, pmid:20639019]
comment: One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months.
synonym: "Recurrent bladder infections" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:197853008
xref: UMLS:C0581366
is_a: HP:0000010 ! Recurrent urinary tract infections
created_by: peter
creation_date: 2014-04-22T09:18:06Z

[Term]
id: HP:0012787
name: Recurrent pyelonephritis
def: "Repeated episodes of pyelonephritis." [HPO:probinson]
xref: UMLS:C0748199
is_a: HP:0000010 ! Recurrent urinary tract infections
is_a: HP:0012330 ! Pyelonephritis
created_by: peter
creation_date: 2014-04-22T09:24:10Z

[Term]
id: HP:0012788
name: Reticulate pigmentation of oral mucosa
def: "A net-like pattern of increased pigmentation of the oral cavity." [HPO:probinson]
synonym: "Mottled pigmentation of oral mucosa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Reticulate pigmentation of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1852148
is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa
created_by: peter
creation_date: 2014-04-22T09:31:07Z

[Term]
id: HP:0012789
name: Hypoplasia of the calcaneus
def: "Underdevelopment of the heel bone." [HPO:probinson]
synonym: "Hypoplastic calcaneus" EXACT []
synonym: "Small heel bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped heel bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3550873
is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones
is_a: HP:0008364 ! Abnormality of the calcaneus
created_by: peter
creation_date: 2014-04-22T09:58:48Z

[Term]
id: HP:0012790
name: Abnormal intramembranous ossification
def: "An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed." [HPO:probinson]
synonym: "Abnormal intramembranous bone ossification" EXACT []
xref: UMLS:C4021069
is_a: HP:0011849 ! Abnormal bone ossification
created_by: peter
creation_date: 2014-04-24T10:18:31Z

[Term]
id: HP:0012791
name: Abnormal humeral ossification
def: "An anomaly of the process of formation of bone in the humerus." [HPO:probinson]
synonym: "Abnormal maturation of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022722
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0003336 ! Abnormal enchondral ossification
created_by: peter
creation_date: 2014-04-24T10:23:43Z

[Term]
id: HP:0012792
name: Absent ossification of thoracic vertebral bodies
def: "A lack of bone mineralization of one or more body of thoracic vertebra." [HPO:probinson]
xref: UMLS:C4022721
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies
created_by: peter
creation_date: 2014-04-24T11:05:14Z

[Term]
id: HP:0012793
name: Kinked brainstem
def: "A kinked appearance of the brainstem, i.e., an exaggerated flexure." [HPO:probinson, pmid:16301726]
comment: Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging.
synonym: "Kinked brain stem" EXACT []
xref: UMLS:C4021068
is_a: HP:0002363 ! Abnormality of brainstem morphology
created_by: peter
creation_date: 2014-04-25T02:51:49Z

[Term]
id: HP:0012794
name: Periventricular white matter hypodensities
def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [HPO:probinson, pmid:16239634]
comment: See also defintion for "Deep white matter hypodensities". These two entities are in contra-distinction to each other.
synonym: "Periventricular cerebral white matter hypodensities" EXACT []
xref: UMLS:C4022720
is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI
created_by: peter
creation_date: 2014-04-25T03:00:01Z

[Term]
id: HP:0012795
name: Abnormality of the optic disc
def: "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson]
comment: The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
xref: UMLS:C3808249
is_a: HP:0000587 ! Abnormality of the optic nerve
created_by: peter
creation_date: 2014-05-24T04:37:10Z

[Term]
id: HP:0012796
name: Increased cup-to-disc ratio
def: "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefoy may indicate a decrease in the quantity of healthy neuroretinal cells." [HPO:probinson, pmid:23557744]
comment: A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified.
synonym: "Elevated cup to disc ratio" EXACT []
synonym: "Increased cup disc ratio" EXACT []
xref: UMLS:C3805911
is_a: HP:0012795 ! Abnormality of the optic disc
created_by: peter
creation_date: 2014-05-24T04:43:52Z

[Term]
id: HP:0012797
name: Lymphatic vessel neoplasm
def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723]
synonym: "Lymphatic vessel tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D018190
xref: NCIT:C3262
xref: SNOMEDCT_US:115236002
xref: UMLS:C0206619
is_a: HP:0100742 ! Vascular neoplasm
is_a: HP:0100766 ! Abnormal lymphatic vessel morphology
created_by: peter
creation_date: 2014-05-24T05:00:34Z

[Term]
id: HP:0012798
name: Pulmonary lymphangiomyomatosis
def: "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls." [HPO:probinson]
comment: Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis.
synonym: "Lymphangioleiomyomatosis" RELATED []
synonym: "Pulmonary myomatosis" EXACT []
xref: MSH:D018192
xref: SNOMEDCT_US:73017001
xref: UMLS:C0238399
xref: UMLS:C0751674
is_a: HP:0012797 ! Lymphatic vessel neoplasm
is_a: HP:0100526 ! Neoplasm of the lung
created_by: peter
creation_date: 2014-05-24T05:00:46Z

[Term]
id: HP:0012799
name: Unilateral facial palsy
def: "One-sided weakness of the muscles of facial expression and eye closure." [HPO:probinson]
synonym: "Paralysis of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unilateral facial muscle paralysis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unilateral facial muscle weakness" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unilateral facial paralysis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unilateral facial weakness" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Weakness of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0239516
xref: UMLS:C4022719
is_a: HP:0010628 ! Facial palsy
created_by: hecht
creation_date: 2014-05-25T10:35:53Z

[Term]
id: HP:0012800
name: Accessory cranial suture
def: "A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [HPO:probinson, pmid:20496093]
comment: The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures.
synonym: "Accessory fontanelle" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Extra cranial suture" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Extra fontanelle" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Supernumary cranial suture" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Supernumary fontanelle" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021067
xref: UMLS:C4022927
is_a: HP:0011329 ! Abnormality of cranial sutures
created_by: hecht
creation_date: 2014-05-25T10:54:52Z

[Term]
id: HP:0012801
name: Narrow jaw
def: "Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436]
comment: The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards.
synonym: "Narrow jaw" EXACT layperson []
synonym: "Narrow lower face" EXACT layperson []
synonym: "Narrow lower jaw" EXACT layperson []
synonym: "Narrow mandible" EXACT []
synonym: "Thin lower face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin lower jaw" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021066
xref: UMLS:C4280310
is_a: HP:0000277 ! Abnormality of the mandible
created_by: hecht
creation_date: 2014-05-25T02:37:13Z

[Term]
id: HP:0012802
name: Broad jaw
def: "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436]
comment: The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used.
synonym: "Broad jaw" EXACT layperson []
synonym: "Broad lower face" EXACT layperson []
synonym: "Broad mandible" EXACT []
synonym: "Wide jaw" EXACT layperson []
synonym: "Wide mandible" EXACT []
xref: UMLS:C3281059
is_a: HP:0000277 ! Abnormality of the mandible
created_by: hecht
creation_date: 2014-05-25T02:41:43Z

[Term]
id: HP:0012803
name: Anisometropia
def: "Inequality of refractive power of the two eyes." [HPO:probinson]
xref: MSH:D015858
xref: SNOMEDCT_US:3289004
xref: UMLS:C0003081
is_a: HP:0000539 ! Abnormality of refraction
created_by: hecht
creation_date: 2014-05-25T03:05:21Z

[Term]
id: HP:0012804
name: Corneal ulceration
def: "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma." [HPO:probinson]
synonym: "Corneal ulcer" EXACT []
xref: MSH:D003320
xref: SNOMEDCT_US:91514001
xref: UMLS:C0010043
is_a: HP:0011495 ! Abnormal corneal epithelium morphology
created_by: hecht
creation_date: 2014-05-25T03:25:51Z

[Term]
id: HP:0012805
name: Iris transillumination defect
def: "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris." [HPO:probinson, pmid:19920562]
comment: Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped.
xref: UMLS:C1096099
is_a: HP:0008034 ! Abnormal iris pigmentation
created_by: hecht
creation_date: 2014-05-25T03:43:06Z

[Term]
id: HP:0012806
name: Proboscis
def: "A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline." [HPO:probinson, pmid:19152422]
comment: A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares.
xref: UMLS:C0687082
is_a: HP:0005105 ! Abnormal nasal morphology
created_by: hecht
creation_date: 2014-05-25T05:46:42Z

[Term]
id: HP:0012807
name: High insertion of columella
def: "Insertion of the posterior columella superior to the nasal base." [pmid:19152422]
comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side.
subset: hposlim_core
synonym: "Ala lower than columella" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Columella, high insertion" EXACT []
xref: UMLS:C4020909
is_a: HP:0009929 ! Abnormality of the columella
created_by: hecht
creation_date: 2014-05-25T05:51:17Z

[Term]
id: HP:0012808
name: Abnormal nasal base
def: "An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422]
synonym: "Abnormal nasal base" EXACT layperson []
synonym: "Abnormality of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of base of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of nasal base" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of base of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of nasal base" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of base of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of nasal base" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022718
is_a: HP:0000366 ! Abnormality of the nose
created_by: hecht
creation_date: 2014-05-25T05:56:47Z

[Term]
id: HP:0012809
name: Narrow nasal base
def: "Decreased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422]
comment: There is a marked difference in width of the nasal base depending on ethnic background.
synonym: "Decreased width of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased width of nasal base" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Narrow base of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Narrow nasal base" EXACT layperson []
synonym: "Thin base of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thin nasal base" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022717
is_a: HP:0012808 ! Abnormal nasal base
created_by: hecht
creation_date: 2014-05-25T05:58:16Z

[Term]
id: HP:0012810
name: Wide nasal base
def: "Increased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422]
comment: There is a marked difference in width of the nasal base depending on ethnic background.
synonym: "Broad base of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Broad nasal base" EXACT layperson []
synonym: "Increased width of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased width of nasal base" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide base of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Wide nasal base" EXACT layperson []
xref: UMLS:C1849667
is_a: HP:0012808 ! Abnormal nasal base
created_by: hecht
creation_date: 2014-05-25T05:59:12Z

[Term]
id: HP:0012811
name: Wide nasal ridge
def: "Increased width of the nasal ridge." [HPO:probinson, pmid:19152422]
comment: This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose.
synonym: "Broad dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Broad nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Broad nasal ridge" RELATED layperson []
synonym: "Increased width of dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased width of nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased width of nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Nasal ridge, wide" EXACT []
synonym: "Wide dorsum of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wide nasal dorsum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Wide nasal ridge" EXACT layperson []
xref: UMLS:C4020718
is_a: HP:0011119 ! Abnormality of the nasal dorsum
created_by: hecht
creation_date: 2014-05-25T10:38:03Z

[Term]
id: HP:0012812
name: Fullness of paranasal tissue
def: "Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues." [HPO:probinson, pmid:19152422]
comment: This feature is distinct from Wide nasal ridge and Wide nasal bridge.
synonym: "Fullness of tissue around the nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of paranasal tissue" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of paranasal tissue" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Laterally built up nose" EXACT []
synonym: "Paranasal fullness" EXACT []
synonym: "Thick paranasal tissue" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Thick tissue around the nose" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021065
xref: UMLS:C4280308
xref: UMLS:C4280309
is_a: HP:0005105 ! Abnormal nasal morphology
created_by: hecht
creation_date: 2014-05-25T10:40:06Z

[Term]
id: HP:0012813
name: Unilateral breast hypoplasia
def: "Underdevelopment of the breast on one side only." [HPO:probinson]
synonym: "One underdeveloped breast" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1844722
is_a: HP:0003187 ! Breast hypoplasia
created_by: hecht
creation_date: 2014-05-26T08:11:58Z

[Term]
id: HP:0012814
name: Bilateral breast hypoplasia
def: "Underdevelopment of the breast on both sides." [HPO:probinson]
synonym: "Two underdeveloped breasts" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022716
is_a: HP:0003187 ! Breast hypoplasia
created_by: hecht
creation_date: 2014-05-26T08:12:34Z

[Term]
id: HP:0012815
name: Hypoplastic female external genitalia
def: "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)." [HPO:probinson]
synonym: "Underdeveloped female external genitalia" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022715
is_a: HP:0000055 ! Abnormality of female external genitalia
is_a: HP:0003241 ! External genital hypoplasia
created_by: peter
creation_date: 2014-05-27T08:14:55Z

[Term]
id: HP:0012816
name: Right ventricular noncompaction cardiomyopathy
def: "A predominantly right ventricular variant of isolated noncompaction cardiomyopathy." [HPO:probinson, pmid:23921774]
xref: UMLS:C4022714
is_a: HP:0012817 ! Noncompaction cardiomyopathy
created_by: hecht
creation_date: 2014-05-28T08:35:01Z

[Term]
id: HP:0012817
name: Noncompaction cardiomyopathy
def: "A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber." [HPO:probinson, pmid:15210614, pmid:24282766]
comment: Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [pmid:15210614].
synonym: "Noncompaction of the ventricular myocardium" EXACT []
synonym: "Spongiform cardiomyopathy" EXACT []
xref: UMLS:C1839832
is_a: HP:0001638 ! Cardiomyopathy
created_by: hecht
creation_date: 2014-05-28T08:37:34Z

[Term]
id: HP:0012818
name: Biventricular noncompaction cardiomyopathy
def: "Noncompaction cardiomyopathy that affects both ventricles." [HPO:probinson]
xref: UMLS:C4022713
is_a: HP:0012817 ! Noncompaction cardiomyopathy
created_by: hecht
creation_date: 2014-05-28T08:49:23Z

[Term]
id: HP:0012819
name: Myocarditis
def: "Inflammation of the myocardium." [HPO:probinson, pmid:21304213, pmid:22185868, pmid:22361396]
comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, are often associated with acute myocarditis. \nHowever, with the advent of genetic analysis, adenovirus and parvovirus B19 have also been found to be frequent causes of myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment.
synonym: "Inflammation of heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D009205
xref: SNOMEDCT_US:50920009
xref: UMLS:C0027059
is_a: HP:0001637 ! Abnormal myocardium morphology
created_by: hecht
creation_date: 2014-05-28T09:01:32Z

[Term]
id: HP:0012820
name: Bilateral vocal cord paralysis
def: "A loss of the ability to move the vocal fold on both sides." [HPO:probinson]
xref: UMLS:C2146481
is_a: HP:0001605 ! Vocal cord paralysis
created_by: hecht
creation_date: 2014-05-28T09:22:32Z

[Term]
id: HP:0012821
name: Unilateral vocal cord paresis
def: "Decreased strength of the vocal fold on one side." [HPO:probinson]
xref: MSH:D014826
xref: UMLS:C0751577
is_a: HP:0001604 ! Vocal cord paresis
created_by: hecht
creation_date: 2014-05-28T09:25:11Z

[Term]
id: HP:0012822
name: Bilateral vocal cord paresis
def: "Decreased strength of the vocal fold on both sides." [HPO:probinson]
xref: MSH:D014826
xref: UMLS:C0751574
is_a: HP:0001604 ! Vocal cord paresis
created_by: hecht
creation_date: 2014-05-28T09:25:43Z

[Term]
id: HP:0012823
name: Clinical modifier
alt_id: HP:0000004
def: "This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." [HPO:probinson]
comment: Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term.
synonym: "Phenotypic modifier" EXACT []
xref: UMLS:C4021064
is_a: HP:0000001 ! All
created_by: peter
creation_date: 2014-06-06T06:34:24Z

[Term]
id: HP:0012824
name: Severity
def: "The intensity or degree of a manifestation." [HPO:probinson]
comment: Synonymous with PATO:0000049, intensity.
synonym: "Intensity" EXACT []
xref: SNOMEDCT_US:103370009
xref: UMLS:C0522510
is_a: HP:0012823 ! Clinical modifier
created_by: peter
creation_date: 2014-06-06T06:39:22Z

[Term]
id: HP:0012825
name: Mild
def: "Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean." [HPO:probinson]
comment: PATO:0000394, mild.
synonym: "Mild" EXACT layperson []
xref: SNOMEDCT_US:446411000124101
xref: UMLS:C1513302
is_a: HP:0012824 ! Severity
created_by: peter
creation_date: 2014-06-06T06:41:33Z

[Term]
id: HP:0012826
name: Moderate
def: "Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean." [HPO:probinson]
comment: PATO:0000395, moderate.
xref: SNOMEDCT_US:446421000124109
xref: SNOMEDCT_US:6736007
xref: UMLS:C0205081
is_a: HP:0012824 ! Severity
created_by: peter
creation_date: 2014-06-06T06:48:12Z

[Term]
id: HP:0012827
name: Borderline
def: "Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean." [HPO:probinson]
comment: PATO:0000394, mild.
synonym: "Borderline" EXACT layperson []
xref: UMLS:C0205189
is_a: HP:0012824 ! Severity
created_by: peter
creation_date: 2014-06-06T06:52:16Z

[Term]
id: HP:0012828
name: Severe
def: "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean." [HPO:probinson]
comment: PATO:0000396, severe.
synonym: "Severe" EXACT layperson []
xref: SNOMEDCT_US:24484000
xref: UMLS:C0205082
is_a: HP:0012824 ! Severity
created_by: peter
creation_date: 2014-06-06T07:03:17Z

[Term]
id: HP:0012829
name: Profound
def: "Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean." [HPO:probinson]
synonym: "Profound" EXACT layperson []
xref: SNOMEDCT_US:795002
xref: UMLS:C0439808
is_a: HP:0012824 ! Severity
created_by: peter
creation_date: 2014-06-06T07:05:46Z

[Term]
id: HP:0012830
name: Position
def: "The anatomical localization of the specified phenotypic abnormality." [HPO:probinson]
xref: UMLS:C4019252
is_a: HP:0012823 ! Clinical modifier
created_by: peter
creation_date: 2014-06-06T07:18:35Z

[Term]
id: HP:0012831
name: Laterality
def: "The localization with respect to the side of the body of the specified phenotypic abnormality." [HPO:probinson]
xref: SNOMEDCT_US:272741003
xref: UMLS:C0332304
is_a: HP:0012830 ! Position
created_by: peter
creation_date: 2014-06-06T07:19:19Z

[Term]
id: HP:0012832
name: Bilateral
def: "Being present on both sides of the body." [HPO:probinson]
xref: SNOMEDCT_US:51440002
xref: UMLS:C0238767
is_a: HP:0012831 ! Laterality
created_by: peter
creation_date: 2014-06-06T07:20:42Z

[Term]
id: HP:0012833
name: Unilateral
def: "Being present on only the left or only the right side of the body." [HPO:probinson]
xref: SNOMEDCT_US:66459002
xref: UMLS:C0205092
is_a: HP:0012831 ! Laterality
created_by: peter
creation_date: 2014-06-06T07:21:12Z

[Term]
id: HP:0012834
name: Right
def: "Being located on the right side of the body." [HPO:probinson]
synonym: "Right-sided" EXACT []
xref: SNOMEDCT_US:264180000
xref: UMLS:C0444532
is_a: HP:0012831 ! Laterality
created_by: peter
creation_date: 2014-06-06T07:21:46Z

[Term]
id: HP:0012835
name: Left
def: "Being located on the left side of the body." [HPO:probinson]
synonym: "Left-sided" EXACT []
xref: SNOMEDCT_US:263795004
xref: UMLS:C0443246
is_a: HP:0012831 ! Laterality
created_by: peter
creation_date: 2014-06-06T07:23:17Z

[Term]
id: HP:0012836
name: Spatial pattern
def: "The pattern by which a phenotype affects one or more regions of the body." [HPO:probinson]
xref: UMLS:C4022711
is_a: HP:0012830 ! Position
created_by: peter
creation_date: 2014-06-06T07:25:02Z

[Term]
id: HP:0012837
name: Generalized
def: "Affecting all regions without specificity of distribution." [HPO:probinson]
comment: PATO:0002403.
synonym: "Generalised" EXACT HP:0045076 []
xref: SNOMEDCT_US:60132005
xref: UMLS:C0205246
is_a: HP:0012836 ! Spatial pattern
created_by: peter
creation_date: 2014-06-06T07:25:58Z

[Term]
id: HP:0012838
name: Localized
def: "Being confined or restricted to a particular location." [HPO:probinson]
comment: PATO:0000627.
synonym: "Localised" EXACT HP:0045076 []
synonym: "Localized" EXACT layperson []
xref: SNOMEDCT_US:255471002
xref: UMLS:C0392752
is_a: HP:0012836 ! Spatial pattern
created_by: peter
creation_date: 2014-06-06T07:27:48Z

[Term]
id: HP:0012839
name: Distal
def: "Localized away from the central point of the body." [HPO:probinson]
synonym: "Outermost" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:46053002
xref: UMLS:C0205108
is_a: HP:0012836 ! Spatial pattern
created_by: peter
creation_date: 2014-06-06T07:29:38Z

[Term]
id: HP:0012840
name: Proximal
def: "Localized close to the central point of the body." [HPO:probinson]
xref: SNOMEDCT_US:40415009
xref: UMLS:C0205107
is_a: HP:0012836 ! Spatial pattern
created_by: peter
creation_date: 2014-06-06T07:30:42Z

[Term]
id: HP:0012841
name: Retinal vascular tortuosity
def: "The presence of an increased number of twists and turns of the retinal blood vessels." [HPO:probinson]
synonym: "Tortuous retinal vessels" EXACT []
xref: UMLS:C1860475
is_a: HP:0008046 ! Abnormal retinal vascular morphology
created_by: peter
creation_date: 2014-06-06T07:53:56Z

[Term]
id: HP:0012842
name: Skin appendage neoplasm
def: "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." [NCIT:C4463]
synonym: "Skin adnexal neoplasm" EXACT []
synonym: "Skin adnexal tumor" EXACT []
xref: NCIT:C3262
xref: SNOMEDCT_US:126489007
xref: SNOMEDCT_US:55681005
xref: UMLS:C0345988
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0011138 ! Abnormality of skin adnexa morphology
created_by: peter
creation_date: 2014-06-06T08:02:51Z

[Term]
id: HP:0012843
name: Hair follicle neoplasm
def: "An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth." [HPO:probinson, NCIT:C7367]
xref: NCIT:C3262
xref: SNOMEDCT_US:44155009
xref: UMLS:C0859920
is_a: HP:0012842 ! Skin appendage neoplasm
created_by: peter
creation_date: 2014-06-06T08:03:49Z

[Term]
id: HP:0012844
name: Trichilemmoma
def: "A benign tumour originating from the outer root sheath of the hair follicle." [UToronto:htrang]
synonym: "Tricholemmoma" EXACT []
xref: SNOMEDCT_US:274900003
xref: SNOMEDCT_US:46199002
xref: UMLS:C0334263
is_a: HP:0012843 ! Hair follicle neoplasm
created_by: peter
creation_date: 2014-06-06T08:05:05Z

[Term]
id: HP:0012845
name: Single trichilemmoma
def: "Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle." [HPO:probinson]
xref: UMLS:C4022710
is_a: HP:0012844 ! Trichilemmoma
created_by: peter
creation_date: 2014-06-06T08:06:37Z

[Term]
id: HP:0012846
name: Multiple trichilemmomata
def: "Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle." [HPO:probinson]
synonym: "Multiple trichilemmomas" EXACT []
xref: UMLS:C4021063
is_a: HP:0012844 ! Trichilemmoma
created_by: peter
creation_date: 2014-06-06T08:07:30Z

[Term]
id: HP:0012847
name: Epilepsia partialis continua
def: "A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals." [UToronto:htrang]
xref: MSH:D017036
xref: SNOMEDCT_US:241006
xref: UMLS:C0085543
is_a: HP:0002133 ! Status epilepticus
created_by: peter
creation_date: 2014-06-06T08:09:22Z

[Term]
id: HP:0012848
name: Small intestinal stenosis
def: "The narrowing or partial blockage of a portion of the small intestine." [HPO:probinson]
synonym: "Narrowing of small intestine" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C0151924
is_a: HP:0002244 ! Abnormality of the small intestine
created_by: hecht
creation_date: 2014-06-07T09:00:19Z

[Term]
id: HP:0012849
name: Small intestinal bleeding
def: "Bleeding from the small intestine." [HPO:probinson]
synonym: "Small intestinal bleeding" EXACT layperson []
synonym: "Small intestinal hemorrhage" EXACT []
xref: SNOMEDCT_US:70375006
xref: UMLS:C0520561
is_a: HP:0002244 ! Abnormality of the small intestine
is_a: HP:0002584 ! Intestinal bleeding
created_by: hecht
creation_date: 2014-06-07T09:12:22Z

[Term]
id: HP:0012850
name: Small intestinal dysmotility
def: "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [HPO:probinson]
xref: SNOMEDCT_US:253768006
xref: UMLS:C0345200
is_a: HP:0002244 ! Abnormality of the small intestine
is_a: HP:0002579 ! Gastrointestinal dysmotility
created_by: robinson
creation_date: 2014-06-07T09:15:02Z

[Term]
id: HP:0012851
name: Colonic stenosis
def: "A narrowing of a segment of colon whereby bowel continuity is maintained." [HPO:probinson]
synonym: "Narrowing of the colon" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stenosis of the colon" EXACT []
xref: SNOMEDCT_US:19132000
xref: SNOMEDCT_US:8543007
xref: UMLS:C0267466
is_a: HP:0002250 ! Abnormal large intestine morphology
created_by: hecht
creation_date: 2014-06-07T09:22:41Z

[Term]
id: HP:0012852
name: Hepatic bridging fibrosis
def: "Hepatic fibrosis that reaches from a portal area to another portal area." [HPO:probinson, pmid:14568255]
xref: UMLS:C4022709
is_a: HP:0001395 ! Hepatic fibrosis
created_by: hecht
creation_date: 2014-06-07T09:27:43Z

[Term]
id: HP:0012853
name: Scrotal hypospadias
def: "Hypospadias with location of the urethral meatus in the scrotum." [HPO:probinson]
xref: SNOMEDCT_US:702462000
xref: UMLS:C2197691
is_a: HP:0000047 ! Hypospadias
created_by: hecht
creation_date: 2014-06-08T10:56:11Z

[Term]
id: HP:0012854
name: Midshaft hypospadias
def: "Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis." [HPO:probinson, PMID:12371222]
xref: UMLS:C4022708
is_a: HP:0000047 ! Hypospadias
created_by: hecht
creation_date: 2014-06-08T10:57:24Z

[Term]
id: HP:0012855
name: Scrotal hyperpigmentation
def: "Increased pigmentation (skin color) of the scrotum." [HPO:probinson]
comment: This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation.
synonym: "Hyperpigmentation of the scrotum" EXACT []
synonym: "Hyperpigmented scrotum" EXACT []
synonym: "Increased pigmentation in scrotum" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021062
is_a: HP:0000045 ! Abnormality of the scrotum
created_by: hecht
creation_date: 2014-06-08T11:03:38Z

[Term]
id: HP:0012856
name: Abnormal scrotal rugation
def: "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson]
xref: UMLS:C4022707
is_a: HP:0000045 ! Abnormality of the scrotum
created_by: hecht
creation_date: 2014-06-08T11:10:00Z

[Term]
id: HP:0012857
name: Increased scrotal rugation
def: "Increased number or density of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson]
xref: UMLS:C4022706
is_a: HP:0012856 ! Abnormal scrotal rugation
created_by: hecht
creation_date: 2014-06-08T11:12:46Z

[Term]
id: HP:0012858
name: Decreased scrotal rugation
def: "Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson]
xref: UMLS:C4022705
is_a: HP:0012856 ! Abnormal scrotal rugation
created_by: hecht
creation_date: 2014-06-08T11:14:00Z

[Term]
id: HP:0012859
name: Esophageal leukoplakia
def: "A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease." [pmid:23765246, UToronto:htrang]
synonym: "Esophageal epidermoid metaplasia" RELATED []
xref: SNOMEDCT_US:89057003
xref: UMLS:C0267095
is_a: HP:0002031 ! Abnormal esophagus morphology
created_by: hecht
creation_date: 2014-06-08T11:16:53Z

[Term]
id: HP:0012860
name: Testicular fibrosis
def: "Formation of excess connective tissue in the testicle." [HPO:probinson]
synonym: "Fibrotic testes" EXACT []
synonym: "Fibrotic testicle" EXACT []
xref: UMLS:C4021061
is_a: HP:0000035 ! Abnormal testis morphology
created_by: hecht
creation_date: 2014-06-09T09:29:22Z

[Term]
id: HP:0012861
name: Ovotestis
def: "A gonad that contains both ovarian follicles and testicular tubular elements." [HPO:probinson]
comment: An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed.
xref: MSH:D050090
xref: SNOMEDCT_US:18978002
xref: UMLS:C0266361
is_a: HP:0000062 ! Ambiguous genitalia
created_by: hecht
creation_date: 2014-06-09T09:48:37Z

[Term]
id: HP:0012862
name: Abnormal germ cell morphology
def: "Any structural anomaly of a reproductive cell." [HPO:probinson]
synonym: "Abnormally shaped of reproductive cell" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022704
is_a: HP:0012243 ! Abnormal reproductive system morphology
created_by: hecht
creation_date: 2014-06-09T10:01:49Z

[Term]
id: HP:0012863
name: Abnormal male germ cell morphology
def: "A structural anomaly of a male reproductive cell." [HPO:probinson]
xref: UMLS:C4022703
is_a: HP:0012862 ! Abnormal germ cell morphology
created_by: hecht
creation_date: 2014-06-09T10:05:33Z

[Term]
id: HP:0012864
name: Abnormal sperm morphology
def: "A structural anomaly of sperm." [HPO:probinson]
synonym: "Abnormal shape of sperm" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Teratospermia" EXACT []
synonym: "Teratozoospermia" EXACT []
xref: MSH:D000072660
xref: SNOMEDCT_US:236817003
xref: UMLS:C0403824
is_a: HP:0012863 ! Abnormal male germ cell morphology
created_by: hecht
creation_date: 2014-06-09T10:07:03Z

[Term]
id: HP:0012865
name: Sperm head anomaly
def: "A structural abnormality of the sperm head." [HPO:probinson, pmid:22198630]
xref: UMLS:C4022702
is_a: HP:0012864 ! Abnormal sperm morphology
created_by: hecht
creation_date: 2014-06-09T10:48:21Z

[Term]
id: HP:0012866
name: Sperm neck anomaly
def: "A structural abnormality of the sperm neck." [HPO:probinson, pmid:22198630]
comment: The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece.
xref: UMLS:C4022701
is_a: HP:0012864 ! Abnormal sperm morphology
created_by: hecht
creation_date: 2014-06-09T10:50:20Z

[Term]
id: HP:0012867
name: Sperm mid-piece anomaly
def: "A structural abnormality of the sperm mid-piece." [HPO:22198630, HPO:probinson]
xref: UMLS:C4022700
is_a: HP:0012864 ! Abnormal sperm morphology
created_by: hecht
creation_date: 2014-06-09T10:50:37Z

[Term]
id: HP:0012868
name: Sperm tail anomaly
def: "A structural abnormality of the sperm tail." [HPO:probinson, pmid:22198630]
comment: Defective sperm flagella are the principal cause of sperm motility disorders.
xref: UMLS:C4022699
is_a: HP:0012864 ! Abnormal sperm morphology
created_by: hecht
creation_date: 2014-06-09T10:50:50Z

[Term]
id: HP:0012869
name: Acephalic spermatozoa
def: "Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head." [HPO:probinson, pmid:10402395]
xref: UMLS:C4022698
is_a: HP:0012865 ! Sperm head anomaly
created_by: hecht
creation_date: 2014-06-09T10:57:11Z

[Term]
id: HP:0012870
name: Vanishing testis
def: "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [HPO:probinson, pmid:22985611]
synonym: "Testicular regression syndrome" RELATED []
synonym: "Vanishing testis" EXACT layperson []
xref: MSH:C537770
xref: SNOMEDCT_US:53599007
xref: UMLS:C0266427
is_a: HP:0000035 ! Abnormal testis morphology
created_by: hecht
creation_date: 2014-06-09T11:00:13Z

[Term]
id: HP:0012871
name: Varicocele
def: "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum." [HPO:probinson]
comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina.
synonym: "Vaginal varicocele" EXACT []
xref: MSH:D014646
xref: SNOMEDCT_US:46871008
xref: SNOMEDCT_US:51070004
xref: UMLS:C0042341
is_a: HP:0000045 ! Abnormality of the scrotum
created_by: hecht
creation_date: 2014-06-09T11:07:41Z

[Term]
id: HP:0012872
name: Abnormal vas deferens morphology
def: "A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct." [HPO:probinson, MP:0002769]
xref: UMLS:C4022697
is_a: HP:0000022 ! Abnormality of male internal genitalia
created_by: hecht
creation_date: 2014-06-09T11:13:37Z

[Term]
id: HP:0012873
name: Absent vas deferens
def: "Aplasia (congenital absence) of the vas deferens." [HPO:probinson]
synonym: "Absent deferent duct" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Absent ductus deferens" EXACT [ORCID:0000-0001-6908-9849]
synonym: "Congenital absence of the vas deferens" EXACT []
xref: SNOMEDCT_US:300506000
xref: SNOMEDCT_US:5286009
xref: SNOMEDCT_US:702610009
xref: UMLS:C0266444
is_a: HP:0012872 ! Abnormal vas deferens morphology
created_by: hecht
creation_date: 2014-06-09T11:14:47Z

[Term]
id: HP:0012874
name: Abnormal male reproductive system physiology
def: "An abnormal functionality of the male genital system." [HPO:probinson]
synonym: "Abnormal male genital system physiology" RELATED []
xref: UMLS:C4020716
is_a: HP:0000080 ! Abnormality of reproductive system physiology
created_by: hecht
creation_date: 2014-06-09T11:20:46Z

[Term]
id: HP:0012875
name: Abnormal ejaculation
def: "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract." [HPO:probinson]
xref: SNOMEDCT_US:386674000
xref: UMLS:C2937350
is_a: HP:0012874 ! Abnormal male reproductive system physiology
created_by: hecht
creation_date: 2014-06-09T11:21:29Z

[Term]
id: HP:0012876
name: Premature ejaculation
def: "The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [HPO:probinson]
synonym: "Premature ejaculation" EXACT layperson []
xref: MSH:D061686
xref: SNOMEDCT_US:44001008
xref: UMLS:C0033038
is_a: HP:0012875 ! Abnormal ejaculation
created_by: hecht
creation_date: 2014-06-09T11:24:37Z

[Term]
id: HP:0012877
name: Retrograde ejaculation
def: "The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm." [HPO:probinson]
xref: SNOMEDCT_US:50112006
xref: UMLS:C0403673
is_a: HP:0012875 ! Abnormal ejaculation
created_by: hecht
creation_date: 2014-06-09T11:25:24Z

[Term]
id: HP:0012878
name: Retarded ejaculation
def: "Difficulty of a male in achieving orgasm." [HPO:probinson, pmid:24528812]
synonym: "Delayed ejaculation" EXACT layperson []
xref: SNOMEDCT_US:15405008
xref: UMLS:C0234047
is_a: HP:0012875 ! Abnormal ejaculation
created_by: hecht
creation_date: 2014-06-09T11:29:28Z

[Term]
id: HP:0012879
name: Anejaculation
def: "Inability to ejaculate." [HPO:probinson, pmid:24528812]
synonym: "Ejaculatory incompetence" EXACT []
xref: SNOMEDCT_US:248782001
xref: SNOMEDCT_US:42288005
xref: UMLS:C0278106
is_a: HP:0012875 ! Abnormal ejaculation
created_by: hecht
creation_date: 2014-06-09T11:33:16Z

[Term]
id: HP:0012880
name: Abnormality of the labia minora
def: "An anomaly of the labia minora, the folds of skin between the outer labia." [HPO:probinson]
synonym: "Abnormality of the inner vaginal lips" EXACT layperson []
xref: UMLS:C4022696
is_a: HP:0000058 ! Abnormality of the labia
creation_date: 2014-06-11T07:44:31Z

[Term]
id: HP:0012881
name: Abnormality of the labia majora
def: "An anomaly of the outer labia." [HPO:probinson]
synonym: "Abnormality of vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022695
is_a: HP:0000058 ! Abnormality of the labia
created_by: hecht
creation_date: 2014-06-11T07:46:41Z

[Term]
id: HP:0012882
name: Hyperplastic labia majora
def: "Overgrowth of the outer labia." [HPO:probinson]
synonym: "Enlarged labia majora" EXACT []
synonym: "Enlarged vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hyperplasia of labia majora" EXACT []
xref: UMLS:C4021060
is_a: HP:0012881 ! Abnormality of the labia majora
created_by: hecht
creation_date: 2014-06-11T07:54:42Z

[Term]
id: HP:0012883
name: Fallopian tube cyst
def: "A fluid filled sac located in the Fallopian tube." [HPO:probinson]
xref: SNOMEDCT_US:59401005
xref: UMLS:C0269173
is_a: HP:0011027 ! Abnormality of the fallopian tube
created_by: hecht
creation_date: 2014-06-11T08:00:04Z

[Term]
id: HP:0012884
name: Fallopian tube torsion
def: "A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation." [HPO:probinson, pmid:24251052]
comment: Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube.
synonym: "Twisted fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:46946009
xref: UMLS:C0269169
is_a: HP:0011027 ! Abnormality of the fallopian tube
created_by: hecht
creation_date: 2014-06-11T08:01:57Z

[Term]
id: HP:0012885
name: Fallopian tube duplication
def: "The presence of a supernumerary Fallopian tube." [HPO:probinson, pmid:23532389]
comment: Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion.
synonym: "Accessory fallopian tube" EXACT []
xref: SNOMEDCT_US:48672005
xref: UMLS:C0266375
is_a: HP:0011027 ! Abnormality of the fallopian tube
created_by: hecht
creation_date: 2014-06-11T08:05:41Z

[Term]
id: HP:0012886
name: Hemorrhagic ovarian cyst
def: "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst." [HPO:probinson, pmid:12928726]
comment: The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy.
xref: SNOMEDCT_US:119420007
xref: UMLS:C0473311
is_a: HP:0000138 ! Ovarian cyst
created_by: hecht
creation_date: 2014-06-11T09:26:15Z

[Term]
id: HP:0012887
name: Ovarian serous cystadenoma
def: "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue." [HPO:probinson, PMID:23766763]
comment: Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size.
synonym: "Serous ovarian cyst" RELATED []
xref: SNOMEDCT_US:119421006
xref: UMLS:C0346170
xref: UMLS:C4020715
is_a: HP:0000138 ! Ovarian cyst
created_by: hecht
creation_date: 2014-06-11T09:32:06Z

[Term]
id: HP:0012888
name: Abnormality of the uterine cervix
def: "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix." [HPO:probinson]
xref: UMLS:C4022694
is_a: HP:0000130 ! Abnormality of the uterus
created_by: hecht
creation_date: 2014-06-11T09:40:02Z

[Term]
id: HP:0012889
name: Cervical endometriosis
def: "Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix." [HPO:probinson]
xref: SNOMEDCT_US:61640006
xref: UMLS:C0269107
is_a: HP:0012888 ! Abnormality of the uterine cervix
is_a: HP:0030127 ! Endometriosis
created_by: hecht
creation_date: 2014-06-11T09:42:02Z

[Term]
id: HP:0012890
name: Posteriorly placed anus
def: "Posterior malposition of the anus." [UToronto:htrang]
xref: UMLS:C4022693
is_a: HP:0004397 ! Ectopic anus
created_by: peter
creation_date: 2014-06-23T10:55:41Z

[Term]
id: HP:0012891
name: High posterior hairline
def: "Hair on the neck extends less inferiorly than usual." [UToronto:htrang]
synonym: "High hairline at back of head" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022692
is_a: HP:0030141 ! Abnormality of the posterior hairline
created_by: peter
creation_date: 2014-06-23T10:57:10Z

[Term]
id: HP:0012892
name: Facial muscle hypertrophy
def: "Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [UToronto:htrang]
synonym: "Hyperplasia of facial muscles" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased size of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022691
xref: UMLS:C4280307
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0003712 ! Skeletal muscle hypertrophy
created_by: peter
creation_date: 2014-06-23T10:58:42Z

[Term]
id: HP:0012893
name: Neck muscle hypertrophy
def: "Muscle hypertrophy affecting the muscles of the neck." [UToronto:htrang]
synonym: "Hyperplasia of neck muscles" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of cervical muscles" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased size of neck muscles" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Large neck muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Overgrowth of neck muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022690
xref: UMLS:C4280306
is_a: HP:0003712 ! Skeletal muscle hypertrophy
is_a: HP:0011006 ! Abnormality of the musculature of the neck
created_by: peter
creation_date: 2014-06-23T10:59:17Z

[Term]
id: HP:0012894
name: Paraspinal muscle hypertrophy
def: "Muscle hypertrophy affecting the paraspinal muscles." [UToronto:htrang]
xref: UMLS:C4022689
is_a: HP:0003712 ! Skeletal muscle hypertrophy
created_by: peter
creation_date: 2014-06-23T10:59:48Z

[Term]
id: HP:0012895
name: Scapular muscle hypertrophy
def: "Muscle hypertrophy affecting the scapular muscles." [UToronto:htrang]
xref: UMLS:C4022688
is_a: HP:0003712 ! Skeletal muscle hypertrophy
created_by: peter
creation_date: 2014-06-23T11:00:11Z

[Term]
id: HP:0012896
name: Abnormal motor evoked potentials
def: "An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways." [HPO:probinson, pmid:10402095]
xref: UMLS:C4022687
is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology
created_by: peter
creation_date: 2014-06-23T11:04:24Z

[Term]
id: HP:0012897
name: Abnormal upper-limb motor evoked potentials
def: "An anomaly identified by motor evoked potentials (MEPs) in the arm." [UToronto:htrang]
synonym: "Abnormal motor evoked potentials in the upper limb" EXACT []
xref: UMLS:C4021059
is_a: HP:0012896 ! Abnormal motor evoked potentials
created_by: peter
creation_date: 2014-06-23T11:08:22Z

[Term]
id: HP:0012898
name: Abnormal lower-limb motor evoked potentials
def: "An anomaly identified by motor evoked potentials (MEPs) in the leg." [UToronto:htrang]
synonym: "Abnormal motor evoked potentials in the lower limb" EXACT []
xref: UMLS:C4021058
is_a: HP:0012896 ! Abnormal motor evoked potentials
created_by: peter
creation_date: 2014-06-23T11:09:22Z

[Term]
id: HP:0012899
name: Handgrip myotonia
def: "Difficulty releasing one's grip associated with prolonged first handgrip relaxation times." [pmid:22987687, UToronto:htrang]
synonym: "Grip myotonia" EXACT []
xref: UMLS:C1868623
is_a: HP:0002486 ! Myotonia
created_by: peter
creation_date: 2014-06-23T11:10:53Z

[Term]
id: HP:0012900
name: Myotonia of the face
def: "Slowed relaxation of muscles in the face." [UToronto:htrang]
xref: UMLS:C4022686
is_a: HP:0002486 ! Myotonia
created_by: peter
creation_date: 2014-06-23T11:14:55Z

[Term]
id: HP:0012901
name: Myotonia of the jaw
def: "Slowed relaxation of muscles in the jaw." [UToronto:htrang]
xref: UMLS:C4022685
is_a: HP:0002486 ! Myotonia
created_by: peter
creation_date: 2014-06-23T11:18:29Z

[Term]
id: HP:0012902
name: Myotonia of the lower limb
def: "Slowed relaxation of muscles in the leg." [UToronto:htrang]
xref: UMLS:C4022684
is_a: HP:0002486 ! Myotonia
created_by: peter
creation_date: 2014-06-23T11:18:59Z

[Term]
id: HP:0012903
name: Myotonia of the upper limb
def: "Slowed relaxation of muscles in the arm." [UToronto:htrang]
xref: UMLS:C4022683
is_a: HP:0002486 ! Myotonia
created_by: peter
creation_date: 2014-06-23T11:19:18Z

[Term]
id: HP:0012904
name: Cold-sensitive myotonia
def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold." [pmid:14617673, UToronto:htrang]
xref: UMLS:C4022682
is_a: HP:0002486 ! Myotonia
created_by: peter
creation_date: 2014-06-23T11:20:32Z

[Term]
id: HP:0012905
name: Euryblepharon
def: "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening." [HPO:probinson, pmid:15249382, pmid:15530943, pmid:24719364]
comment: The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome.
synonym: "Kabuki syndrome eyelids" RELATED [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:400954002
xref: UMLS:C1303001
xref: UMLS:C4280305
is_a: HP:0000492 ! Abnormal eyelid morphology
created_by: peter
creation_date: 2014-06-23T11:43:42Z

[Term]
id: HP:0020006
name: Ciliary body coloboma
def: "A `coloboma` (HP:0000589) of the ciliary body." []
xref: UMLS:C4072884
is_a: HP:0000589 ! Coloboma

[Term]
id: HP:0020034
name: Diffuse
def: "A spatial pattern that is spread out, i.e., not localized." [HPO:probinson]
xref: SNOMEDCT_US:19648000
xref: UMLS:C0205219
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0020035
name: Lower limb dysmetria
def: "A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg." [HPO:mtaboada, PMID:25573808]
is_a: HP:0002406 ! Limb dysmetria
property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:24:09Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020036
name: Upper limb dysmetria
def: "A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm." [HPO:mtaboada, PMID:20301629]
is_a: HP:0002406 ! Limb dysmetria
property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:28:26Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020037
name: Astasia
def: "A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength." [HPO:mtaboada, PMID:27821973]
is_a: HP:0100022 ! Abnormality of movement
property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:38:30Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020038
name: Vertebrobasilar dolichoectasia
def: "Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm." [PMID:24765483]
comment: The basilar artery arises from the confluence of the two vertebral arteries.
is_a: HP:0030321 ! Abnormal vertebral artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:54:00Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020041
name: Double elevator palsy
def: "A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia." [ORCID:0000-0003-0986-4123, PMID:23479532]
is_a: HP:0025068 ! Incomitant strabismus
property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:09:14Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020042
name: Double depressor palsy
def: "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye." [ORCID:0000-0003-0986-4123]
is_a: HP:0025068 ! Incomitant strabismus
property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:12:54Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020043
name: Vertical incomitant strabismus
def: "A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards." [ORCID:0000-0003-0986-4123]
is_a: HP:0025068 ! Incomitant strabismus
property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:14:25Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020044
name: Horizontal incomitant strabismus
comment: A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts horizontally.
is_a: HP:0025068 ! Incomitant strabismus
property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:14:39Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020045
name: Esodeviation
def: "A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally." [ORCID:0000-0003-0986-4123]
synonym: "Convergent strabismus" EXACT []
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:20:06Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020046
name: Accommodative esotropia
def: "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex." [ORCID:0000-0003-0986-4123]
comment: Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes.
is_a: HP:0000565 ! Esotropia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:25:43Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020047
name: Abnormal myeloid cell morphology
def: "Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage." []
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T14:32:10Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020048
name: Reduced bone-marrow pro-B cell count
def: "A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19." []
is_a: HP:0005561 ! Abnormality of bone marrow cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T14:57:04Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020049
name: Exodeviation
def: "A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally." [ORCID:0000-0003-0986-4123]
synonym: "Divergent strabismus" EXACT []
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T15:01:01Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020050
name: Anti-granulocyte-macrophage colony stimulating factor antibody positivity
def: "The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor." [PMID:23509356]
comment: Anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies have been shown to cause acquired pulmonary alveolar proteinosis (PAP)(1, 2), a chronic lung disease characterized by abnormalities of surfactant metabolism.
synonym: "Anti-GM-CSF antibody positivity" EXACT HP:0045077 []
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T15:05:06Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020054
name: Abnormal erythrocyte physiology
def: "Any functional abnormality of erythrocytes (red-blood cells)." []
is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues
property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:39:07Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020058
name: Abnormal red blood cell count
def: "Any deviation from the normal number of red blood cells per volume in the circulation." []
synonym: "Abnormal RBC count" EXACT HP:0045077 []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:44:47Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020059
name: Increased red blood cell count
def: "An abnormal elevation above the normal number of red blood cells per volume in the circulation." []
synonym: "Increased RBC count" EXACT HP:0045077 []
is_a: HP:0020058 ! Abnormal red blood cell count
property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:45:36Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020060
name: Decreased red blood cell count
def: "An abnormal reduction below the normal number of red blood cells per volume in the circulation." []
synonym: "Decreased RBC count" EXACT HP:0045077 []
is_a: HP:0020058 ! Abnormal red blood cell count
property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:46:01Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020061
name: Abnormal hemoglobin concentration
def: "Any deviation from the normal concentration of hemoglobin in the blood." []
synonym: "Abnormal Hb concentration" EXACT HP:0045077 []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:52:35Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020062
name: Decreased hemoglobin concentration
def: "An abnormal reduction below normal hemoglobin concentration in the circulation." []
synonym: "Decreased Hb concentration" EXACT HP:0045077 []
is_a: HP:0020061 ! Abnormal hemoglobin concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:53:11Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020063
name: Increased hemoglobin concentration
def: "An abnormal elevation above normal hemoglobin concentration in the circulation." []
synonym: "Increased Hb concentration" EXACT HP:0045077 []
is_a: HP:0020061 ! Abnormal hemoglobin concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:53:24Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020064
name: Abnormal eosinophil count
def: "Any deviation from the normal number of eosinophils per volume in the blood circulation." []
is_a: HP:0001879 ! Abnormal eosinophil morphology
is_a: HP:0032309 ! Abnormal granulocyte count
property_value: http://purl.org/dc/elements/1.1/date 2018-10-17T13:48:52Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020071
name: Viremia
def: "The presence of virus in the blood." []
is_a: HP:0031863 ! Bloodstream infectious agent
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T22:33:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0020072
name: Persistent EBV viremia
def: "Persistent presence of Epstein-Barr virus in the blood." []
comment: Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission.
is_a: HP:0032248 ! Persistent viremia
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T22:36:17Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020073
name: Hypopigmented macule
def: "A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation." [PMID:24023426]
comment: A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin.
is_a: HP:0012733 ! Macule
property_value: http://purl.org/dc/elements/1.1/date 2019-01-25T13:41:52Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020074
name: Crystalluria
def: "The presence of crystals in the urine." [PMID:26509782]
comment: Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir).
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:07:52Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020075
name: Leucine crystalluria
def: "The presence of leuucine crystals in the urine." []
is_a: HP:0020074 ! Crystalluria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:13:14Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020076
name: Wrist ganglion
def: "A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule." [PMID:17488856, PMID:19468907]
comment: Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency.
synonym: "Ganglion cyst of the wrist" EXACT []
is_a: HP:0003019 ! Abnormality of the wrist
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:18:34Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020077
name: Carnitinuria
def: "An elevated level of carnitine in the urine." [PMID:11196742, UCDenver:tjcallahan]
is_a: HP:0031980 ! Abnormal urine carboxylic acid level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:29:26Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020078
name: Alaninuria
def: "An increased level of alanine in the urine." [UCDenver:tjcallahan]
synonym: "Increased urinary alanine" EXACT []
is_a: HP:0008353 ! Neutral hyperaminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:31:43Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020079
name: Beta-alaninuria
def: "An increased level of beta-alanine in the urine." []
comment: Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position.
is_a: HP:0008353 ! Neutral hyperaminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:34:18Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020080
name: Erythrocyte inclusion bodies
def: "Nuclear or cytoplasmic aggregates of substances in red blood cells." []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:41:04Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020081
name: Pappenheimer bodies
def: "A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain)." [PMID:15054821, PMID:21250106]
is_a: HP:0020080 ! Erythrocyte inclusion bodies
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:56:37Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020082
name: Heinz bodies
def: "A type of erythrocyte inclusion composed of denatured hemoglobin." [PMID:21250106, PMID:24713708]
is_a: HP:0020080 ! Erythrocyte inclusion bodies
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T14:00:35Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020083
name: Furuncle
def: "An infection of a hair follicle that extends subcutaneously, forming an abscess." []
synonym: "Boil" EXACT layperson []
is_a: HP:0025084 ! Folliculitis
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T16:59:51Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020084
name: Carbuncle
def: "A group of infected hair follicles, larger and deeper than a furuncle." []
is_a: HP:0025084 ! Folliculitis
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:02:42Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020085
name: Infection following live vaccination
def: "An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens." []
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:21:47Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020086
name: BCGitis
def: "Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination." [PMID:24722620]
comment: The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis.
is_a: HP:0020085 ! Infection following live vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:25:28Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020087
name: BCGosis
def: "Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination." [PMID:24722620]
comment: The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis.
is_a: HP:0020085 ! Infection following live vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:27:13Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020088
name: Post-vaccination measles
def: "Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases." [PMID:29152266]
synonym: "Vaccine associated measles" EXACT []
is_a: HP:0020085 ! Infection following live vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:31:45Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020089
name: Post-vaccination rubella
def: "Infection with the rubella virus of the live-attenuated vaccine." []
is_a: HP:0020085 ! Infection following live vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:36:47Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020090
name: Post-vaccination polio
def: "Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise." [PMID:25285130]
is_a: HP:0020085 ! Infection following live vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:38:52Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020091
name: Post-vaccination rotavirus infection
def: "Infection with live attenuated rotavirus vaccine following vaccination." [PMID:21477676]
is_a: HP:0020085 ! Infection following live vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:42:33Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020093
name: Recurrent deep organ abscess formation
def: "Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ." []
is_a: HP:0032169 ! Severe infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:44:58Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020095
name: Prolonged need of intravenous antibiotic therapy
def: "Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time." []
is_a: HP:0032169 ! Severe infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:48:52Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020096
name: Recurrent streptococcal infections
def: "Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections." []
is_a: HP:0002718 ! Recurrent bacterial infections
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:59:21Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020097
name: Infection due to encapsulated bacteria
def: "An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines." [PMID:30515161]
def: "Encapsulated bacteria have been responsible for the majority of bacteremia and meningitis in children for many decades. In children aged over 3 months, Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus), and Haemophilus influenzae have been the predominant pathogens, with H. influenzae being a less significant problem since the introduction of vaccines against type b organisms. Disease is most common in young children less than 5 years of age and older adults aged over 65 years. In neonates and young infants, Group B Streptococcus (GBS) is the major cause of bacteremia and meningitis. These organisms have the shared characteristic of being surrounded by a polysaccharide capsule, which is a key virulence factor because it helps the bacteria evade complement deposition and subsequent phagocytosis and killing. These polysaccharides have also been the basis for successful vaccines against all except GBS, because immune responses against the polysaccharide capsule are the primary mechanism of protection for the human host. Each species can be encapsulated by polysaccharides of different biochemical compositions, which has been used for categorization into capsular groups or serotypes." []
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T18:54:35Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020098
name: Herpes encephalitis
def: "Infection of the brain parenchyma with herpes simplex virus, resukting in inflammation of the brain parenchyma with neurologic dysfunction." [PMID:27106239]
comment: Herpes encephalitis may occur in mmunocompromised patients, but HSV-1 is consistently the single most common cause of sporadic encephalitis worldwide.
is_a: HP:0011450 ! Unusual CNS infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T18:58:22Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020099
name: Severe norovirus infection
def: "An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals." [PMID:25567225]
is_a: HP:0032169 ! Severe infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:02:54Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020100
name: Unusual fungal infection
def: "An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent." []
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:05:28Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020101
name: Invasive fungal infection
def: "Fungal infection characterized by invasion of host tissues." [PMID:24718393]
comment: Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, haematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents.
is_a: HP:0020100 ! Unusual fungal infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:11:15Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020102
name: Pneumocystis jirovecii pneumonia
def: "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing." [PMID:26281787]
comment: Pneumocystis, initially considered to be a protozoan, later has been assigned to the kingdom of fungi.
is_a: HP:0032255 ! Opportunistic fungal infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:15:19Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020103
name: Invasive pulmonary aspergillosis
def: "Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis." [PMID:25656673]
comment: Invasive pulmonary aspergillosis usually occurs in severely immunocompromised patients. Classic at-risk patients are those with prolonged neutropenia, either due to chemotherapy or immunosuppressive therapy, post hematopoietic stem cell transplant (SCT), or solid organ transplant.
is_a: HP:0020101 ! Invasive fungal infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:17:44Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020104
name: Unusual protozoan infection
def: "An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent." []
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:21:25Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020105
name: Severe toxoplasmosis
def: "Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs)." [PMID:25762774]
is_a: HP:0020104 ! Unusual protozoan infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:22:59Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020106
name: Severe giardiasis
def: "An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide." [PMID:11148005, PMID:17042927]
comment: Several reports of giardiasis in immunocompromised patients exist.
is_a: HP:0020104 ! Unusual protozoan infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:25:29Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020107
name: Unusual helminthic infection
def: "An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth)." [PMID:18382743]
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:28:54Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020108
name: Unusual parasitic infection
def: "An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite." [PMID:16148530]
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:30:24Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020110
name: Bone fracture
def: "A partial or complete breakage of the continuity of a bone." []
is_a: HP:0011842 ! Abnormality of skeletal morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:45:29Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020111
name: Abnormal CD4+CD25+ regulatory T cell proportion
def: "A deviation from the normal proportion of natural T regulatory cells (Treg) in the blood circulation. Natural Treg are characterised as expressing both the CD4 T cell co-receptor and CD25, which is a component of the IL-2 receptor. Treg are thus CD4+ CD25+. Expression of the nuclear transcription factor Forkhead box P3 (FoxP3) is the defining property which determines natural Treg development and function." [PMID:19751267]
comment: Identification of Treg cells remains problematic, because accumulating evidence suggests that all the presently-used Treg markers (CD25, CTLA-4, GITR, LAG-3, CD127 and Foxp3) represent general T-cell activation markers, rather than being truly Treg-specific.
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:48:36Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020112
name: Elevated proportion of CD4+CD25+ regulatory T cells
def: "An abnormally increased proportion of natural T regulatory cells (Treg) in the blood circulation." []
is_a: HP:0020111 ! Abnormal CD4+CD25+ regulatory T cell proportion
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:50:53Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020113
name: Reduced proportion of CD4+CD25+ regulatory T cells
def: "An abnormally decreased proportion of natural T regulatory cells (Treg) in the blood circulation." []
is_a: HP:0020111 ! Abnormal CD4+CD25+ regulatory T cell proportion
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:51:32Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0020114
name: Persistent human papillomavirus infection
def: "Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease." [PMID:24643184, PMID:26239127]
is_a: HP:0032169 ! Severe infection
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:54:37Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0025004
name: Hallux rigidus
def: "Osteoarthritis of the metatarsophalangeal joint of the first toe." [HPO:probinson, PMID:24649409]
comment: Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409].
synonym: "Arthritis of the big toe" EXACT layperson []
xref: MSH:D020859
xref: SNOMEDCT_US:6654000
xref: UMLS:C0264134
is_a: HP:0001844 ! Abnormality of the hallux
property_value: http://purl.org/dc/elements/1.1/date 2016-06-25T09:23:22Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025005
name: Thickening of glomerular capillary wall
def: "Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself." [HPO:probinson, PMID:6879730]
is_a: HP:0025006 ! Abnormal glomerular capillary morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T22:31:55Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025006
name: Abnormal glomerular capillary morphology
def: "A structural anomaly of the capillary blood vessels in the renal glomerulus." []
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T22:53:26Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025007
name: Ectopic fovea
def: "An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina." []
synonym: "Ectopic macula" BROAD []
is_a: HP:0000493 ! Abnormal foveal morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T23:07:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025008
name: Tracheal tug on inspiration
def: "Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree." [UToronto:chum]
is_a: HP:0002795 ! Functional respiratory abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T23:22:12Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025009
name: Forward slanting upper incisors
def: "The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards." []
synonym: "Forward directed upper incisors" EXACT []
synonym: "Proclination of the upper incisors" EXACT []
synonym: "Protruding upper incisors" EXACT []
is_a: HP:0011062 ! Misalignment of incisors
property_value: http://purl.org/dc/elements/1.1/date 2016-08-07T12:52:55Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025010
name: Foveal atrophy
def: "Partial or complete loss of foveal tissue that was once present." [HPO:probinson]
comment: Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT).
is_a: HP:0000493 ! Abnormal foveal morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-07T13:52:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025011
name: Pyriform aperture stenosis
def: "Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose." [HPO:probinson]
comment: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901].
is_a: HP:0005105 ! Abnormal nasal morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-07T22:32:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025012
name: Status cribrosum
def: "Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations." [HPO:probinson]
is_a: HP:0002134 ! Abnormality of the basal ganglia
property_value: http://purl.org/dc/elements/1.1/date 2016-08-07T23:40:40Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025013
name: Decerebrate rigidity
def: "A type of rigidity that is manifested by an exaggerated extensor posture of all extremities." [UToronto:chum]
comment: Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration).
synonym: "Decerebrate posturing" EXACT []
is_a: HP:0002063 ! Rigidity
property_value: http://purl.org/dc/elements/1.1/date 2016-08-09T11:43:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025014
name: Subcutaneous spheroids
def: "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [PMID:20847697]
comment: This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome.
is_a: HP:0001482 ! Subcutaneous nodule
property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:18:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025015
name: Abnormal vascular morphology
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0030680 ! Abnormality of cardiovascular system morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:24:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025016
name: Abnormal capillary morphology
def: "A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." []
is_a: HP:0025015 ! Abnormal vascular morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:42:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025017
name: Capillary fragility
def: "Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises)." []
comment: The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085].
is_a: HP:0025018 ! Abnormal capillary physiology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:50:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025018
name: Abnormal capillary physiology
def: "A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." []
is_a: HP:0030163 ! Abnormal vascular physiology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:56:48Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025019
name: Arterial rupture
def: "Sudden breakage of an artery leading to leakage of blood from the circulation." [HPO:probinson]
is_a: HP:0025323 ! Abnormal arterial physiology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T12:03:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025020
name: Elevated prostate-specific antigen level
def: "An increased concentration of prostate specific antigen (PSA) in the circulation." [PMID:26366236]
comment: Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question.
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T12:13:13Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025021
name: Abnormal erythrocyte sedimentation rate
def: "A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488]
synonym: "Abnormal ESR" EXACT layperson []
synonym: "Abnormal Westergren sedimentation rate" EXACT []
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2016-08-22T10:26:22Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025022
name: Decreased erythrocyte sedimentation rate
def: "A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488]
synonym: "Decreased ESR" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Low ESR" EXACT layperson []
is_a: HP:0025021 ! Abnormal erythrocyte sedimentation rate
property_value: http://purl.org/dc/elements/1.1/date 2016-08-22T10:39:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025023
name: Rectal atresia
def: "A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum." [HPO:probinson, PMID:20006038]
synonym: "Atresia of the rectum" EXACT []
is_a: HP:0002034 ! Abnormality of the rectum
is_a: HP:0011100 ! Intestinal atresia
property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:13:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025024
name: Megarectum
def: "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum." [HPO:probinson, PMID:10869000]
comment: Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507].
is_a: HP:0002034 ! Abnormality of the rectum
property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:18:38Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025025
name: Rectovestibular fistula
def: "A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening." [HPO:probinson]
comment: The condition can cause feces and gas to exit the vaginal vestibule.
synonym: "Vestibular fistula" EXACT []
is_a: HP:0100590 ! Rectal fistula
property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:49:07Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025026
name: H-type rectovestibular fistula
def: "Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract." [PMID:20223314]
is_a: HP:0025025 ! Rectovestibular fistula
property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:58:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025027
name: Osteoma cutis
def: "The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin." [HPO:probinson, PMID:21152797, PMID:26273166]
synonym: "Cutaneous osteosis" EXACT []
synonym: "Miliary osteoma" EXACT []
synonym: "Osteomatosis" EXACT []
is_a: HP:0200036 ! Skin nodule
property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T12:11:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025028
name: Abnormality of enteric nervous system morphology
def: "A structural anomaly of nerves of the enteric nervous system." []
comment: The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter.
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0012331 ! Abnormal autonomic nervous system morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T11:10:48Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025029
name: Abnormality of enteric neuron morphology
is_a: HP:0025028 ! Abnormality of enteric nervous system morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T11:22:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025030
name: Enteric neuronal degeneration
def: "Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons." []
synonym: "Degenerative enteric neuropathy" RELATED []
is_a: HP:0025029 ! Abnormality of enteric neuron morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T11:43:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025031
name: Abnormality of the digestive system
comment: Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus.
is_a: HP:0000118 ! Phenotypic abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T13:44:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025032
name: Abnormality of digestive system physiology
def: "A functional anomaly of the digestive system." []
is_a: HP:0025031 ! Abnormality of the digestive system
property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T13:58:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025033
name: Abnormality of digestive system morphology
def: "A structural anomaly of the digestive system." []
is_a: HP:0025031 ! Abnormality of the digestive system
property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T13:58:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025034
name: Abnormal morphology of erythroid progenitor cell
def: "Abnormal form of the progenitor cells committed to the erythroid lineage." []
is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-02T11:14:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025035
name: Abnormal proerythroblast morphology
def: "Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." []
is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-02T11:16:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025037
name: Hypothalamic gliosis
def: "Focal proliferation of glial cells in the hypothalamus." [HPO:probinson, PMID:26530930]
is_a: HP:0002171 ! Gliosis
property_value: http://purl.org/dc/elements/1.1/date 2016-09-20T10:59:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025038
name: Intratesticular abscess
def: "A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins." [PMID:11598263]
synonym: "Testicular abscess" EXACT []
is_a: HP:0000035 ! Abnormal testis morphology
is_a: HP:0025615 ! Abscess
property_value: http://purl.org/dc/elements/1.1/date 2016-09-21T11:02:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025039
name: Basal ganglia edema
def: "Swelling within the basal ganglia due to the accumulation of fluid." []
synonym: "Basal ganglia oedema" EXACT []
synonym: "Edema of the basal ganglia" EXACT []
synonym: "Oedema of the basal ganglia" EXACT []
is_a: HP:0002134 ! Abnormality of the basal ganglia
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:00:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025040
name: Thalamic edema
def: "Swelling within the thalamus due to the accumulation of fluid." []
synonym: "Edema of the thalamus" EXACT []
synonym: "Oedema of the thalamus" EXACT []
synonym: "Thalamic oedema" EXACT []
is_a: HP:0010663 ! Abnormality of thalamus morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:11:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025041
name: Thalamic calcification
def: "Calcium deposition in the thalamus." []
is_a: HP:0010663 ! Abnormality of thalamus morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:15:01Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025042
name: Abnormality of mesenteric lymph nodes
def: "A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery." []
is_a: HP:0002733 ! Abnormality of the lymph nodes
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:21:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025043
name: Enlarged mesenteric lymph node
def: "Increase in size of one or more mesenteric lymph nodes." []
comment: Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged.
is_a: HP:0025042 ! Abnormality of mesenteric lymph nodes
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:26:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025044
name: Lung abscess
def: "A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity." [PMID:26366400]
is_a: HP:0002088 ! Abnormal lung morphology
is_a: HP:0025615 ! Abscess
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:30:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025045
name: Abnormal brain lactate level by MRS
def: "A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Abnormal lactate level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T16:43:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025046
name: Reduced brain lactate level by MRS
def: "A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Reduced brain lactate level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025045 ! Abnormal brain lactate level by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T16:45:22Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025047
name: Abnormal brain choline level by MRS
def: "A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Abnormal brain choline level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T16:48:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025048
name: Reduced brain choline level by MRS
def: "An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Reduced brain choline level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025047 ! Abnormal brain choline level by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T16:49:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025049
name: Abnormal brain creatine level by MRS
comment: A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
synonym: "Abnormal brain creatine level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:45:22Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025050
name: Elevated brain creatine level by MRS
def: "An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Elevated brain creatine level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025049 ! Abnormal brain creatine level by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:46:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025051
name: Reduced brain creatine level by MRS
def: "A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Reduced brain creatine level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025049 ! Abnormal brain creatine level by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:48:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025052
name: Abnormal brain N-acetyl aspartate level by MRS
def: "A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:50:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025053
name: Elevated brain N-acetyl aspartate level by MRS
def: "An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." []
synonym: "Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT []
is_a: HP:0025052 ! Abnormal brain N-acetyl aspartate level by MRS
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:52:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025057
name: Abnormality of olfactory lobe morphology
def: "A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell." []
is_a: HP:0100547 ! Abnormality of forebrain morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:03:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025058
name: Hypothalamic atrophy
synonym: "Atrophy of the hypothalamus" EXACT []
synonym: "Partial or complete wasting (loss) of hypothalamus tissue that was once present." EXACT []
is_a: HP:0012286 ! Abnormal hypothalamus morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:07:40Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025059
name: Splenic abscess
def: "A circumscribed area of pus or necrotic debris in the parenchyma of the spleen." [PMID:21319348]
comment: Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes.
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:11:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025060
name: Multifocal splenic abscess
def: "Multiple abscess lesions in the spleen." []
synonym: "Multilocular splenic abscess" EXACT []
is_a: HP:0025059 ! Splenic abscess
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:19:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025061
name: Unifocal splenic abscess
def: "Single (solitary) abscess in the spleen." []
synonym: "Solitary splenic abscess" EXACT []
synonym: "Unilocular splenic abscess" EXACT []
is_a: HP:0025059 ! Splenic abscess
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:21:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025062
name: Geophagia
def: "The practice of eating earth or soil-like substrates such as clay or chalk." [PMID:23816735]
synonym: "Geophagy" EXACT []
is_a: HP:0011856 ! Pica
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:47:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025063
name: Scaphoid abdomen
def: "The anterior abdominal wall is sunken and presents a concave rather than a convex contour." []
comment: Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax).
is_a: HP:0011458 ! Abdominal symptom
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:54:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025064
name: Thalamic hemorrhage
def: "Bleeding in the thalamus." []
comment: Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on  sequences, is typically seen upon magnetic resonance imaging.
synonym: "Thalamic haemorrhage" EXACT []
is_a: HP:0010663 ! Abnormality of thalamus morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:03:34Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025065
name: Abnormal mean corpuscular volume
def: "A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters." []
synonym: "Abnormal erythrocyte volume" EXACT []
synonym: "Abnormal MCV" EXACT HP:0045077 []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:08:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025066
name: Decreased mean corpuscular volume
def: "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." []
synonym: "Decreased MCV" EXACT HP:0045077 []
synonym: "Microcytosis" EXACT []
synonym: "Reduced erythrocyte volume" EXACT []
is_a: HP:0025065 ! Abnormal mean corpuscular volume
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:10:48Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025068
name: Incomitant strabismus
def: "Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort." [ORCID:0000-0003-0986-4123]
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:25:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025069
name: Concomitant strabismus
def: "Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing." []
synonym: "Comitant strabismus" EXACT []
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:29:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025070
name: Abnormal U wave
def: "An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3." [PMID:22665396]
comment: U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease.
is_a: HP:0003115 ! Abnormal EKG
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:36:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025071
name: U wave inversion
def: "Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves." []
comment: Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia.
is_a: HP:0025070 ! Abnormal U wave
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:39:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025072
name: Prominent U wave
def: "Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave." []
synonym: "Increased U wave amplitude" EXACT []
is_a: HP:0025070 ! Abnormal U wave
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:42:48Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025073
name: Exercise-induced U wave inversion
def: "U wave inversion that is induced by exercise stress testing." [PMID:22665396]
is_a: HP:0025071 ! U wave inversion
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:44:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025074
name: Abnormal QRS complex
def: "An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram." []
is_a: HP:0003115 ! Abnormal EKG
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:46:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025075
name: Increased QRS voltage
def: "Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm)." []
is_a: HP:0025076 ! Abnormal QRS voltage
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:48:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025076
name: Abnormal QRS voltage
def: "Abnormal amplitude of the QRS complex of the electrocardiogram (EKG)." []
is_a: HP:0025074 ! Abnormal QRS complex
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:50:26Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025077
name: Decreased QRS voltage
def: "Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm." []
is_a: HP:0025076 ! Abnormal QRS voltage
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:50:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025078
name: Electrical alternans
def: "The QRS complexes of the electrocardiogram alternate in height." [PMID:8222799]
is_a: HP:0025076 ! Abnormal QRS voltage
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:52:41Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025079
name: Pancreatic abscess
def: "A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas." []
synonym: "Pancreas abscess" EXACT []
is_a: HP:0012090 ! Abnormal pancreas morphology
is_a: HP:0025615 ! Abscess
property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T11:01:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025080
name: Orthokeratotic hyperkeratosis
def: "A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei." []
comment: Hyperkeratosis is most commonly orthokeratotic.
is_a: HP:0000962 ! Hyperkeratosis
property_value: http://purl.org/dc/elements/1.1/date 2016-10-12T23:40:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025081
name: Darier's sign
def: "A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP." [PMID:24701633]
is_a: HP:0001025 ! Urticaria
property_value: http://purl.org/dc/elements/1.1/date 2016-10-12T23:46:34Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025082
name: Abnormal cutaneous elastic fiber morphology
def: "Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils." [PMID:12082143, PMID:21738362]
comment: Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362].
is_a: HP:0011121 ! Abnormality of skin morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T12:16:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025083
name: Elevated dermal desmosine content
def: "An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin." [PMID:2307214]
comment: Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disordersmay show a reduced content of desmosine.
is_a: HP:0011121 ! Abnormality of skin morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T13:13:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025084
name: Folliculitis
def: "Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule." []
comment: In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation.
synonym: "Follicular pustule" EXACT []
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T13:35:26Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025085
name: Bloody diarrhea
def: "Passage of many stools containing blood." []
comment: Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea.
synonym: "Blood in stool" BROAD layperson []
synonym: "Bloody bowel movement" EXACT layperson []
synonym: "Bloody diarrhea" EXACT layperson []
synonym: "Bloody diarrhoea" EXACT layperson []
synonym: "Bloody stool" BROAD layperson []
is_a: HP:0002014 ! Diarrhea
property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T13:58:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025086
name: Bloody mucoid diarrhea
def: "Passage of many stools containing blood and mucus." []
synonym: "Bloody mucoid diarrhoea" EXACT []
is_a: HP:0025085 ! Bloody diarrhea
property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T13:59:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025087
name: Delayed recoil upon stretching of skin
def: "Area of skin requiring an increased amount of time to return to its original shape after being stretched." []
comment: see PMID:23919031
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin
property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T14:50:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025088
name: Onychomadesis
def: "Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth." [PMID:24882996, PMID:25473242, PMID:28207011]
comment: Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line.
is_a: HP:0001806 ! Onycholysis
property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T00:35:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025089
name: Feculent vomiting
def: "Vomiting of material that is of fecal origin." []
comment: Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus).
synonym: "Fecal vomiting" EXACT []
synonym: "Stercoraceous vomiting" EXACT []
is_a: HP:0002013 ! Vomiting
property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T00:38:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025090
name: Abnormal large intestinal mucosa morphology
def: "A structural anomaly of the mucous lining of the large intestine." []
is_a: HP:0002250 ! Abnormal large intestine morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T00:55:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025092
name: Epidermal acanthosis
def: "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
comment: Note that we use the prefered label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells.
synonym: "Acanthosis" EXACT []
synonym: "Acanthotic epidermis" EXACT []
synonym: "Thickening of upper layer of skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
is_a: HP:0011124 ! Abnormality of epidermal morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:14:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025093
name: Peripapillary exudate
def: "A retinal exudate in the area surrounding the optic nerve head." []
synonym: "Peripapillary exudation" EXACT []
is_a: HP:0001147 ! Retinal exudate
property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:19:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025094
name: Disciform macular scar
def: "A subretinal scar with a disc-like shape in the region of the macula." []
is_a: HP:0200056 ! Macular scar
property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:29:42Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025095
name: Sneeze
def: "A sudden violent, spasmodic, audible expiration of breath through the nose and mouth." []
is_a: HP:0002795 ! Functional respiratory abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:36:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025096
name: Paroxysmal sneezing
def: "Unprovoked explosive pathological sneezing." [PMID:17388999]
is_a: HP:0025095 ! Sneeze
property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:37:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025097
name: Eyelid myoclonus
def: "Marked, involuntary jerking of the eyelids." []
comment: Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences.
synonym: "Blepharoclonus" EXACT []
synonym: "Eyelid myoclonia" RELATED []
is_a: HP:0001336 ! Myoclonus
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T05:55:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025098
name: Dysgenesis of the hypothalamus
def: "Structural abnormality of the hypothalamus related to defective development." []
comment: Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin.
synonym: "Hypothalamic dysgenesis" EXACT []
is_a: HP:0012286 ! Abnormal hypothalamus morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T06:41:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025099
name: Dysgenesis of the thalamus
def: "Structural abnormality of the thalamus related to defective development." []
comment: Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin.
synonym: "Thalamic dysgenesis" EXACT []
is_a: HP:0010663 ! Abnormality of thalamus morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T06:51:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025100
name: Abnormal morphology of the hippocampus
def: "Any structural anomaly of the hippocampus," []
comment: The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.
synonym: "Abnormality of hippocampus morphology" EXACT []
is_a: HP:0007343 ! Abnormal morphology of the limbic system
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T07:12:41Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025101
name: Dysgenesis of the hippocampus
def: "Structural abnormality of the hippocampus related to defective development." []
comment: Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin.
synonym: "Hippocampal dysgenesis" EXACT []
is_a: HP:0025100 ! Abnormal morphology of the hippocampus
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T07:15:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025102
name: Dysgenesis of the basal ganglia
def: "Structural abnormality of the basal ganglia related to defective development." []
comment: Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin.
synonym: "Basal ganglia dysgenesis" EXACT []
is_a: HP:0002134 ! Abnormality of the basal ganglia
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T07:21:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025103
name: Umbilicated nodule
def: "A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated)." [PMID:24050295]
is_a: HP:0200036 ! Skin nodule
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T07:30:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025104
name: Capillary malformation
def: "A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)." [PMID:22483320, PMID:25864701]
comment: There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow.
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T23:39:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025105
name: Nevus anemicus
def: "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots/" [PMID:22483320, PMID:25864701]
synonym: "Naevus anaemicus" EXACT []
is_a: HP:0025104 ! Capillary malformation
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T23:49:41Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025106
name: Nevus roseus
def: "A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life." [PMID:22483320, PMID:25864701]
is_a: HP:0025104 ! Capillary malformation
property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T23:53:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025107
name: Cutis marmorata telangiectatica congenita
def: "A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible." [PMID:22483320, PMID:25864701]
is_a: HP:0025104 ! Capillary malformation
property_value: http://purl.org/dc/elements/1.1/date 2016-10-29T00:22:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025108
name: Angioma serpentinum
def: "Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis." [PMID:25864701]
comment: Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently\nassumed.
is_a: HP:0025104 ! Capillary malformation
property_value: http://purl.org/dc/elements/1.1/date 2016-10-29T00:31:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025109
name: Reduced red cell pyruvate kinase activity
def: "Decrease in the activity of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate." [PMID:7949104]
synonym: "Reduced erythrocyte pyruvate kinase activity" EXACT []
is_a: HP:0030272 ! Abnormal erythrocyte enzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2016-10-29T00:37:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025110
name: Placoid macular lesion
def: "Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula." []
is_a: HP:0030500 ! Yellow/white lesions of the macula
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:20:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025112
name: Sound sensitivity
def: "Decreased tolerance to sound." []
comment: Sound sensitivity impliees a difficulty tolerating sounds which do not seem loud or unpleasant to others.
synonym: "Noise sensitivity" EXACT []
is_a: HP:0000708 ! Behavioral abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:30:30Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025113
name: Misophonia
def: "An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound." []
is_a: HP:0025112 ! Sound sensitivity
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:33:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025114
name: Hypergranulosis
def: "Hypergranulosis is an increased thickness of the stratum granulosum." []
comment: Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum.
is_a: HP:0011368 ! Epidermal thickening
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:48:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025115
name: Civatte bodies
def: "Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant" [PMID:23919028]
comment: The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist.
synonym: "Colloid bodies" EXACT []
synonym: "Colloid bodies of Civatte" EXACT []
synonym: "Cytoid bodies" EXACT []
synonym: "Hyaline bodies" EXACT []
is_a: HP:0011124 ! Abnormality of epidermal morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:58:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025116
name: Fetal distress
def: "An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile." []
comment: Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible.
is_a: HP:0001197 ! Abnormality of prenatal development or birth
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T10:13:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025117
name: Rete ridge flattening
def: "Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance." [PMID:20548894]
synonym: "Flattened rete pegs" EXACT []
synonym: "Flattened rete ridges" EXACT []
is_a: HP:0011124 ! Abnormality of epidermal morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T10:52:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025118
name: Lip discoloration
def: "Lightening or darkening of the lips from their usual coloring." []
is_a: HP:0032453 ! Abnormal lip pigmentation
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T11:25:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025119
name: Violet lip discoloration
def: "An alteration of the color of the lip to take on a violet color. This term does not include cyanosis." [PMID:24346922]
comment: This feature may be seen rarely as a paraneoplastic manifestation.
is_a: HP:0025118 ! Lip discoloration
property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T11:25:57Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025121
name: Simple partial occipital seizures
def: "A type of focal seizure (i.e., affecting initially only one hemisphere of the brain) that is simple (not resulting in alteration of consciousness) that originates in the occipital lobe. Visual hallucinations are the hallmark of occipital seizures, but are not invariably present. Hallucinations typically commence in the visual field contralateral to the affected visual cortex and then spread to involve the entire visual field. Elementary visual seizures are characterized by fleeting visual manifestations which may be either positive (flashes, phosphenes) or, less commonly, negative (scotoma, hemianopia, amaurosis). Positive phenomena are usually flashes of colour or light, which are simple in shape and may be static or mobile." [PMID:12615636]
comment: The major differential diagnosis is migraine. In occipital seizures, stereotyped visual hallucinations manifest as multiple bright coloured balls or circles which multiply, change in size, move horizontally, may flash, and last for seconds. In migraine, visual symptoms manifest as black and white, flickering, linear, zigzag patterns in the central field, gradually expanding and lasting for minutes
is_a: HP:0002349 ! Focal aware seizure
property_value: http://purl.org/dc/elements/1.1/date 2016-11-10T11:43:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025122
name: Sawtooth acanthosis
def: "A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis." [PMID:19061615]
synonym: "Sawtoothed acanthosis" EXACT []
is_a: HP:0025092 ! Epidermal acanthosis
property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T01:39:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025123
name: White streaks/specks on enamel.
def: "Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks." []
is_a: HP:0011073 ! Abnormality of dental color
property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T01:47:26Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025124
name: Fragile teeth
def: "A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma." []
synonym: "Enamel with tendency to chip" EXACT []
synonym: "Spontaneous tooth fracture" EXACT []
is_a: HP:0000164 ! Abnormality of the dentition
property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T01:53:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025125
name: White lesion of the oral mucosa
def: "White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps od surface ulcerations and collapsed bullae can appear white." []
is_a: HP:0011830 ! Abnormal oral mucosa morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T02:08:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025126
name: Oral hairy leukoplakia
def: "A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance." []
is_a: HP:0025125 ! White lesion of the oral mucosa
property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T02:15:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025127
name: Actinic keratosis
def: "A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color." []
comment: Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin.
synonym: "Solar keratosis" EXACT []
is_a: HP:0008069 ! Neoplasm of the skin
property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T02:23:13Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025128
name: Reduced intraabdominal adipose tissue
def: "An abnormally reduced amount of adipose tissue in the abdominal cavity." []
is_a: HP:0040063 ! Decreased adipose tissue
property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T02:33:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025129
name: Abnormal small intestinal mucosa morphology
def: "A structural anomaly of the mucous lining of the small intestine." []
is_a: HP:0002244 ! Abnormality of the small intestine
property_value: http://purl.org/dc/elements/1.1/date 2016-11-15T11:57:47Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025130
name: Decreased small intestinal mucosa lactase activity
def: "Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges." []
synonym: "Lactase deficiency" EXACT []
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
is_a: HP:0025129 ! Abnormal small intestinal mucosa morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-11-15T12:01:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025131
name: Finger swelling
def: "Enlargement of the soft tissues of one or more fingers." [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244]
synonym: "Swelling of fingers" EXACT HP:0045078 []
synonym: "Swollen finger" EXACT HP:0045078 []
synonym: "Swollen fingers" EXACT []
is_a: HP:0001167 ! Abnormality of finger
property_value: http://purl.org/dc/elements/1.1/date 2016-11-15T12:08:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025132
name: Abnormal circulating estrogen level
def: "A deviation from normal concentration of the hormone estrogen in the blood circulation." []
comment: Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3).
synonym: "Abnormal circulating oestrogen level" EXACT []
synonym: "Abnormal estrogen level" EXACT []
is_a: HP:0003117 ! Abnormal circulating hormone level
is_a: HP:0008373 ! Puberty and gonadal disorders
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T13:46:29Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025133
name: Abnormal serum estradiol
def: "A deviation from normal concentrations of estradiol in the circulation." []
comment: Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens
is_a: HP:0025132 ! Abnormal circulating estrogen level
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T13:52:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025134
name: Increased serum estradiol
def: "An elevation above normal limits of the concentration of estradiol in the circulation." []
synonym: "Increased estradiol level" EXACT []
synonym: "Increased serum oestradiol" EXACT []
is_a: HP:0025133 ! Abnormal serum estradiol
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:09:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025135
name: Abnormal serum estriol
def: "A deviation from normal concentration of estriol in the circulation." []
is_a: HP:0025132 ! Abnormal circulating estrogen level
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:10:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025136
name: Increased serum estriol
def: "An elevation above normal limits of estriol concentration in the circulation." []
is_a: HP:0025135 ! Abnormal serum estriol
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:13:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025137
name: Decreased serum estriol
def: "A reduction below normal limits of estriol in the circulation." []
is_a: HP:0025135 ! Abnormal serum estriol
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:13:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025138
name: Abnormal serum estrone
def: "A deviation from the normal concentration of circulating estrone." []
is_a: HP:0025132 ! Abnormal circulating estrogen level
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:14:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025139
name: Increased serum estrone
def: "An elevation above normal limits of the concentration of estrone in the circulation." []
is_a: HP:0025138 ! Abnormal serum estrone
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:15:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025140
name: Decreased serum estrone
def: "A reduction below normal limits of the concentration of estrone in the circulation." []
is_a: HP:0025138 ! Abnormal serum estrone
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:15:48Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025141
name: Gingival calcification
def: "Ectopic deposition of calcium salts found in the gingiva." [PMID:25928877]
synonym: "Gingival calcifications" EXACT []
is_a: HP:0000168 ! Abnormality of the gingiva
is_a: HP:0010766 ! Ectopic calcification
property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:27:44Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025142
name: Constitutional symptom
def: "A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual." []
comment: Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples  include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting.
is_a: HP:0000118 ! Phenotypic abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:02:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025143
name: Chills
def: "A sudden sensation of feeling cold." []
comment: The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold.
synonym: "Chills" EXACT layperson []
is_a: HP:0025142 ! Constitutional symptom
property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:10:01Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025144
name: Shivering
def: "Involuntary contraction or twitching of the muscles." []
comment: Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold.
synonym: "Shivering" EXACT layperson []
synonym: "Shuddering" EXACT layperson []
is_a: HP:0025142 ! Constitutional symptom
property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:13:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025145
name: Rigors
def: "Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever." []
comment: A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection.
is_a: HP:0025143 ! Chills
is_a: HP:0025144 ! Shivering
property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:15:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025146
name: Foveal degeneration
def: "Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina." []
is_a: HP:0000493 ! Abnormal foveal morphology
is_a: HP:0000608 ! Macular degeneration
property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:24:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025147
name: Beaten bronze macular sheen
def: "A shiny appearance of the macula, which is often called a beaten bronze appearance." []
comment: This feature may be seen in Stargardt disease.
synonym: "Beaten metal macular appearance" EXACT []
synonym: "Beaten-bronze macular appearance" EXACT []
synonym: "Beaten-bronze macular sheen" EXACT []
is_a: HP:0008002 ! Abnormality of macular pigmentation
property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:37:39Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025148
name: Dark choroid
def: "A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid)." [PMID:27739528, PMID:7248243]
comment: The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells.
is_a: HP:0000610 ! Abnormal choroid morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:49:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025149
name: Atrophic muscularis propria
def: "Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis." [PMID:18329691]
synonym: "Autonomic visceral myopathy" RELATED []
synonym: "Degenerative enteric myopathy" RELATED []
is_a: HP:0030935 ! Abnormality of intestinal smooth muscle morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T14:04:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025150
name: Hypoganglionosis
def: "Sparse and small myenteric ganglia" []
comment: Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines.
is_a: HP:0004362 ! Abnormality of enteric ganglion morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T14:28:39Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025151
name: Ganglioneuromatosis
def: "Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers." [PMID:26361414]
is_a: HP:0004362 ! Abnormality of enteric ganglion morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T14:36:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025152
name: Poor visual behavior for age
def: "Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones." []
comment: A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function.
synonym: "Abnormal visual behavior for age" EXACT []
synonym: "Abnormal visual behaviour for age" EXACT []
synonym: "Poor visual behaviour for age" EXACT []
is_a: HP:0000504 ! Abnormality of vision
property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T21:34:47Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025153
name: Transient
def: "Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration." []
is_a: HP:0011008 ! Temporal pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T22:19:26Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025154
name: Portosystemic collateral veins
def: "Presence of biliary veins that serve as a collateral channel to the systemic circulation" []
comment: Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases.
synonym: "Collateral biliary circulation" EXACT []
synonym: "Collateral biliary veins" EXACT []
is_a: HP:0012440 ! Abnormal biliary tract morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T22:24:40Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025155
name: Abnormality of hepatobiliary system physiology
def: "A functional anomaly of the hepatobiliary system" []
is_a: HP:0025032 ! Abnormality of digestive system physiology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:05:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025156
name: Dependency on intravenous nutrition
def: "Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status." [PMID:16770168]
comment: Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder.
synonym: "Dependency on IV nutrition" EXACT HP:0045077 []
is_a: HP:0025032 ! Abnormality of digestive system physiology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:14:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025157
name: Increased urinary sedoheptulose
def: "An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group." []
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:36:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025158
name: Hyperautofluorescent retinal lesion
def: "Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging." []
is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:53:55Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025159
name: Hypoautofluorescent retinal lesion
def: "Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging." []
synonym: "Hypo-autofluorescent retinal lesion" EXACT []
is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:54:44Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025160
name: Abnormal temper tantrums
def: "A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual." []
is_a: HP:0000708 ! Behavioral abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:59:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025161
name: Frequent temper tantrums
def: "Temper tantrums that occur more frequently than usual." []
is_a: HP:0025160 ! Abnormal temper tantrums
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:05:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025162
name: Severe temper tantrums
def: "Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes." []
is_a: HP:0025160 ! Abnormal temper tantrums
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:05:46Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025163
name: Abnormality of optic chiasm morphology
def: "A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves." []
is_a: HP:0000587 ! Abnormality of the optic nerve
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:12:19Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025164
name: Increased number of elastic fibers in the dermis
def: "An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods." [PMID:25072684]
is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:43:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025165
name: Clumping of elastic fibers in the dermis
def: "Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis)." [PMID:25072684]
is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:50:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025166
name: Thickened elastic fibers in the dermis
def: "An increase of the diameter of elastic fibers in the dermis." []
is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:54:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025167
name: Fragmented elastic fibers in the dermis
def: "Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers." []
is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:56:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025168
name: Left ventricular diastolic dysfunction
def: "Abnormal function of the left ventricule during left ventricular relaxation and filling." [PMID:12527689, PMID:14594874]
comment: Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging.
is_a: HP:0005162 ! Left ventricular dysfunction
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T14:01:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025169
name: Left ventricular systolic dysfunction
def: "Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent." []
is_a: HP:0005162 ! Left ventricular dysfunction
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T14:07:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025170
name: Neuronal/glioneuronal neoplasm of the central nervous system
def: "A central nervous system neoplasm with neuronal and, less consistently, glial differentiation." []
synonym: "Glioneuronal tumor" EXACT []
synonym: "Neuronal and mixed neuronal-glial tumor" EXACT []
synonym: "Neuronal/glioneuronal neoplasm of the CNS" EXACT HP:0045077 []
is_a: HP:0100006 ! Neoplasm of the central nervous system
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T14:30:29Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025171
name: Rosette-forming glioneuronal tumor
def: "A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy." [PMID:27179225]
synonym: "Rosette-forming glioneuronal neoplasm" EXACT []
synonym: "Rosette-forming glioneuronal tumor of the fourth ventricle" RELATED []
synonym: "Rosette-forming glioneuronal tumour" EXACT []
is_a: HP:0025170 ! Neuronal/glioneuronal neoplasm of the central nervous system
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T14:35:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025172
name: Smooth septal thickening on pulmonary HRCT
def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa." []
is_a: HP:0030879 ! Interlobular septal thickening on pulmonary HRCT
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:28:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025173
name: Nodular septal thickening on pulmonary HRCT
def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa." []
is_a: HP:0030879 ! Interlobular septal thickening on pulmonary HRCT
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:30:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025174
name: Irregular septal thickening on pulmonary HRCT
def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture." []
is_a: HP:0030879 ! Interlobular septal thickening on pulmonary HRCT
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:31:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025175
name: Honeycomb lung
def: "Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis." []
comment: Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis.
is_a: HP:0005948 ! Multiple pulmonary cysts
is_a: HP:0006530 ! Interstitial pulmonary abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:34:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025176
name: Intralobular interstitial thickening
def: "A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance." []
is_a: HP:0006530 ! Interstitial pulmonary abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:39:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025177
name: Peribronchovascular interstitial thickening
def: "Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography." []
is_a: HP:0006530 ! Interstitial pulmonary abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:41:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025178
name: Subpleural interstitial thickening
def: "Increase in thickness of the subpleural interstitium." []
comment: Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening.
is_a: HP:0031630 ! Abnormal subpleural morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:44:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025179
name: Ground-glass opacification on pulmonary HRCT
def: "A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings." [PMID:23247773]
comment: Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease.
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
is_a: HP:0031457 ! Pulmonary opacity
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:55:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025180
name: Centrilobular ground-glass opacification on pulmonary HRCT
def: "A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules." []
synonym: "Centrilobular groundglass opacification" EXACT []
synonym: "Centrilobular groundglass opacity" EXACT []
is_a: HP:0025179 ! Ground-glass opacification on pulmonary HRCT
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:57:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025181
name: Abdominal aseptic abscess
def: "An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently." [PMID:22526827]
is_a: HP:0001438 ! Abnormality of abdomen morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T20:11:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025182
name: Localized area of pendulous skin
def: "A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region." []
is_a: HP:0008067 ! Abnormally lax or hyperextensible skin
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T21:29:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025186
name: Marcus Gunn jaw winking synkinesis
def: "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing." [PMID:23345532, PMID:25754805]
synonym: "Marcus Gunn jaw-winking syndrome" EXACT []
synonym: "Pterygoid-levator synkinesis" EXACT []
synonym: "Trigemino-oculomotor synkinesis" EXACT []
is_a: HP:0000496 ! Abnormality of eye movement
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T22:17:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025188
name: Retinal vasculitis
def: "Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion." []
comment: This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment.
is_a: HP:0008046 ! Abnormal retinal vascular morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T22:37:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025190
name: Generalized tonic-clonic seizures without focal onset
def: "A type of generalized tonic-clonic seizure that occurs in and rapidly engages bilaterally distributed networks." []
synonym: "Generalised tonic-clonic seizures without focal onset" EXACT []
synonym: "Primarily generalised tonic-clonic seizures" EXACT []
synonym: "Primarily generalized tonic-clonic seizures" EXACT []
synonym: "Primary generalised tonic-clonic seizures" EXACT []
synonym: "Primary generalized tonic-clonic seizures" EXACT []
is_a: HP:0002069 ! Generalized tonic-clonic seizures
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T22:50:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025191
name: Segmental myoclonic seizures
is_a: HP:0011166 ! Focal myoclonic seizures
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T23:02:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025192
name: Subtentorial periventricular white matter hyperdensity
def: "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum)." []
is_a: HP:0030891 ! Periventricular white matter hyperdensities
property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T23:09:22Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025193
name: Posterolateral diaphragmatic hernia
def: "A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity." []
synonym: "Bochdalek hernia" EXACT []
is_a: HP:0000776 ! Congenital diaphragmatic hernia
property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T01:51:30Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025194
name: Morgagni diaphragmatic hernia
def: "An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity." []
comment: Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period.
synonym: "Morgagni hernia" EXACT []
is_a: HP:0000776 ! Congenital diaphragmatic hernia
property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T01:55:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025195
name: Central diaphragmatic hernia
def: "A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present." []
synonym: "Central hernia" EXACT []
is_a: HP:0000776 ! Congenital diaphragmatic hernia
property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T01:57:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025196
name: Increased total iron binding capacity
def: "An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity." [PMID:3542299]
comment: Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states.
is_a: HP:0011031 ! Abnormality of iron homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T02:10:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025197
name: Inclusion body fibromatosis
def: "A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration." [NCIT:C3456, PMID:27684985]
synonym: "Digital fibrous tumor of Reye" EXACT []
synonym: "Infantile digital fibroma" EXACT []
synonym: "Infantile digital fibromatosis" EXACT []
is_a: HP:0012316 ! Fibrous tissue neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T11:28:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025198
name: Inflammatory cap polyp
def: "A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp." []
comment: The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine.
is_a: HP:0005266 ! Intestinal polyp
property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T11:49:57Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025200
name: Muscle fiber actin filament accumulation
synonym: "Accumulation in muscle cells of filaments composed of actin." EXACT []
is_a: HP:0100299 ! Muscle fiber inclusion bodies
property_value: http://purl.org/dc/elements/1.1/date 2016-12-06T03:05:47Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025201
name: Abnormal apolipoprotein level
def: "A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation." []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T12:53:01Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025202
name: Elevated apolipoprotein A-IV level
def: "An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II." []
is_a: HP:0025201 ! Abnormal apolipoprotein level
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T12:56:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025203
name: Caput medusae
def: "Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins." [PMID:26112857]
comment: Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction.
synonym: "Palm tree sign" EXACT []
is_a: HP:0030168 ! Dilated superficial abdominal veins
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:11:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025204
name: Triggered by
def: "A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation." []
is_a: HP:0012823 ! Clinical modifier
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:33:36Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025205
name: Triggered by breast feeding
def: "Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant." []
synonym: "Triggered by breast feeding" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:41:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025206
name: Triggered by cold
def: "Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings." []
synonym: "Triggered by cold temperature" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:44:40Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025207
name: Triggered by dehydration
def: "Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water." []
synonym: "Triggered by dehydration" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:45:29Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025208
name: Triggered by carbohydrate ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates." []
synonym: "Triggered by carbohydrate ingestion" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:46:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025209
name: Triggered by fructose ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose." []
synonym: "Trigged by fruit sugar" EXACT layperson []
is_a: HP:0025208 ! Triggered by carbohydrate ingestion
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:48:19Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025210
name: Triggered by glucose ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose." []
is_a: HP:0025208 ! Triggered by carbohydrate ingestion
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:48:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025211
name: Triggered by ethanol ingestion
def: "Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol." []
synonym: "Triggered by alcohol ingestion" BROAD layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:50:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025212
name: Triggered by fasting
def: "Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting)." []
synonym: "Triggered by fasting" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:50:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025213
name: Triggered by galactose ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose." []
synonym: "Triggered by ingestion of lactose-containing milk" EXACT layperson []
is_a: HP:0025208 ! Triggered by carbohydrate ingestion
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:51:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025214
name: Triggered by heat
def: "Applies to a sign or symptom that is provoked or brought about by exposure to heat." []
synonym: "Triggered by heat" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:59:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025215
name: Triggered by febrile illness
def: "Applies to a sign or symptom that is provoked or brought about by febrile illness." []
synonym: "Triggered by fever" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:00:39Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025216
name: Triggered by heavy meal
def: "Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal." []
synonym: "Triggered by overeating" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:01:22Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025217
name: Triggered by high-fat diet
def: "Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids." []
synonym: "Triggered by high-fat diet" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:02:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025218
name: Triggered by hyperventilation
def: "Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing." []
synonym: "Triggered by hyperventilation" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:02:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025219
name: Triggered by vaccination
def: "Applies to a sign or symptom that is provoked or brought about by a vaccination." [PMID:26633955]
synonym: "Triggered by immunization" EXACT []
synonym: "Triggered by vaccination" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:04:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025220
name: Triggered by menstruation
def: "Applies to a sign or symptom that is provoked or brought about by menstruation in a female." []
synonym: "Triggered by monthly period" EXACT layperson []
synonym: "Triggered by period" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:05:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025221
name: Triggered by pregnancy
def: "Applies to a sign or symptom that is provoked or brought about by pregnancy in a female." []
synonym: "Triggered by pregnancy" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:06:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025222
name: Triggered by sleep deprivation
def: "Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep." []
synonym: "Triggered by sleep deprivation" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:07:29Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025223
name: Triggered by smoking
def: "Applies to a sign or symptom that is provoked or brought about by smoking." []
synonym: "Triggered by cigarette consumption" EXACT layperson []
synonym: "Triggered by smoking" EXACT layperson []
synonym: "Triggered by tobacco use" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:07:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025224
name: Triggered by sodium ingestion
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium." []
synonym: "Triggered by Na ingestion" EXACT HP:0045077 []
synonym: "Triggered by Na+ ingestion" EXACT HP:0045077 []
synonym: "Triggered by salt ingestion" NARROW layperson []
synonym: "Triggered by sodium intake" EXACT []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:08:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025225
name: Triggered by sound
def: "Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise." []
comment: For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech.
synonym: "Triggered by sound" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:09:30Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025226
name: Triggered by stress
def: "Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension." []
synonym: "Triggered by stress" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:24:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025227
name: Triggered by excitement
def: "Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled." []
synonym: "Triggered by excitement" EXACT layperson []
synonym: "Triggered by startle" RELATED []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:28:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025228
name: Triggered by sudden movement
def: "Applies to a sign or symptom that is provoked or brought about by a sudden movement." []
synonym: "Triggered by sudden movement" EXACT layperson []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:29:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025229
name: Triggered by vestibular stimulation
def: "Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair." []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:30:38Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025230
name: Tendonitis
def: "Inflammation of a tendon." []
synonym: "Teninitis" EXACT []
is_a: HP:0100261 ! Abnormal tendon morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:20:22Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025231
name: Abnormality of synovial bursa morphology
def: "A structural anomaly of a synovial bursa." []
comment: A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip.
is_a: HP:0011842 ! Abnormality of skeletal morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:29:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025232
name: Bursitis
def: "Inflammation of a synovial bursa." []
is_a: HP:0025231 ! Abnormality of synovial bursa morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:33:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025233
name: Sleep paralysis
def: "An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes." [PMID:21571556]
is_a: HP:0002360 ! Sleep disturbance
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:44:36Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025234
name: Parasomnia
def: "An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep." [PMID:27647645]
is_a: HP:0002360 ! Sleep disturbance
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:50:48Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025235
name: Non-rapid eye movement parasomnia
def: "A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep)." [PMID:27647645]
comment: NREM parasomnias usually occur within a few hours after sleep onset, episodes last from a few minutes to as long as 30-40 min, and are characterised by amnesia for the\nevent.
synonym: "NREM parasomnia" EXACT []
is_a: HP:0025234 ! Parasomnia
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:55:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025236
name: Somnambulism
def: "Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated." [PMID:27647645]
comment: During an episode of sleepwalking, the sonambulating child typically appears clumsy and might perform unusual actions such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or after leaving the house.
synonym: "Sleep walking" EXACT layperson [ORCID:0000-0002-0736-9199]
is_a: HP:0025235 ! Non-rapid eye movement parasomnia
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T12:01:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025237
name: Confusional arousal
def: "A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours." [PMID:27647645]
is_a: HP:0025235 ! Non-rapid eye movement parasomnia
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T12:07:36Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025238
name: Foot pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot." []
synonym: "Foot pain" EXACT layperson []
is_a: HP:0012531 ! Pain
property_value: http://purl.org/dc/elements/1.1/date 2016-12-16T11:55:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025239
name: Subhyaloid hemorrhage
def: "A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area." [PMID:27090882]
comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident.
synonym: "Subhyaloid heme" EXACT []
is_a: HP:0025240 ! Preretinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T00:34:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025240
name: Preretinal hemorrhage
def: "An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [UManchester:psergouniotis]
comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident.
synonym: "Preretinal haemorrhage" EXACT HP:0045076 []
synonym: "Preretinal heme" EXACT []
is_a: HP:0031803 ! Fundus hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T00:54:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025241
name: Flame-shaped retinal hemorrhage
def: "A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells)." []
comment: Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure.
synonym: "Feathered retinal heme" EXACT []
synonym: "Flame-shaped retinal haemorrhage" EXACT HP:0045076 []
synonym: "Linear retina heme" EXACT []
is_a: HP:0031805 ! Intraretinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T01:14:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025242
name: Dot-and-blot retinal hemorrhage
def: "Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location." []
comment: Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages.
synonym: "Dot-and-blot retinal haemorrhage" EXACT HP:0045076 []
synonym: "Round retinal heme" EXACT []
is_a: HP:0031805 ! Intraretinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T01:25:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025243
name: Subretinal hemorrhage
def: "Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium." []
comment: Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread.
synonym: "Subretinal haemorrhage" EXACT HP:0045076 []
synonym: "Subretinal heme" EXACT []
is_a: HP:0000573 ! Retinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T01:29:29Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025244
name: Subretinal pigment epithelium hemorrhage
def: "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane." []
synonym: "Subretinal pigment epithelium haemorrhage" EXACT HP:0045076 []
is_a: HP:0000573 ! Retinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T01:39:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025245
name: Cutaneous cyst
def: "A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material." []
comment: In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated.
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:11:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025246
name: Trichilemmal cyst
def: "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous." []
comment: Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts.
synonym: "Pilar cyst" EXACT []
is_a: HP:0025245 ! Cutaneous cyst
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:45:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025247
name: Dermoid cyst
def: "A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm." []
is_a: HP:0025245 ! Cutaneous cyst
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:49:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025248
name: Eruptive vellus hair cyst
def: "A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge." []
comment: Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles.
is_a: HP:0025245 ! Cutaneous cyst
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:52:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025249
name: Comedo
def: "A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle)." []
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:56:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025250
name: Closed comedo
def: "A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead." []
synonym: "Whitehead" EXACT layperson [ORCID:0000-0002-0736-9199]
is_a: HP:0025249 ! Comedo
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:57:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025251
name: Open comedo
def: "A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black." []
synonym: "Blackhead" EXACT layperson [ORCID:0000-0002-0736-9199]
is_a: HP:0025249 ! Comedo
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:04:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025252
name: Geographic tongue
def: "An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map." []
synonym: "Glossitis areata exfoliativa" EXACT []
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:09:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025253
name: Claustrophobia
def: "An abnormal fear of being in a closed or narrow space with no escape." []
is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:14:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025254
name: Ameliorated by
def: "An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable" []
synonym: "Improved by" EXACT []
is_a: HP:0012823 ! Clinical modifier
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:17:46Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025255
name: Ameliorated by pregnancy
def: "Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female." []
is_a: HP:0025254 ! Ameliorated by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:19:29Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025256
name: Ameliorated by heat
def: "Applies to a sign or symptom that is improved or made more bearable by heat (including fever)." []
is_a: HP:0025254 ! Ameliorated by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:20:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025257
name: Ameliorated by carbohydrate ingestion
def: "Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar)." []
is_a: HP:0025254 ! Ameliorated by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:21:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025258
name: Stiff neck
def: "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side." []
synonym: "Neck stiffness" EXACT layperson []
synonym: "Stiff neck" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
is_a: HP:0005986 ! Limitation of neck motion
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:06:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025259
name: Stiff elbow
def: "A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity." []
synonym: "Elbow stiffness" EXACT layperson []
synonym: "Stiff elbow" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:11:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025260
name: Stiff wrist
def: "A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity." []
synonym: "Stiff wrist" EXACT layperson []
synonym: "Wrist stiffness" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:12:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025261
name: Stiff finger
def: "A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity." []
synonym: "Finger stiffness" EXACT layperson []
synonym: "Stiff finger" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:13:47Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025262
name: Stiff hip
def: "A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity." []
synonym: "Hip stiffness" EXACT layperson []
synonym: "Stiff hip" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:15:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025263
name: Stiff knee
def: "A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity." []
synonym: "Knee stiffness" EXACT layperson []
synonym: "Stiff knee" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:16:12Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025264
name: Stiff ankle
def: "A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity." []
synonym: "Ankle stiffness" EXACT layperson []
synonym: "Stiff ankle" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:17:12Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025265
name: Stiff toe
def: "A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity." []
synonym: "Stiff toe" EXACT layperson []
synonym: "Toe stiffness" EXACT layperson []
is_a: HP:0001387 ! Joint stiffness
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:18:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025266
name: Cervical osteoarthritis
def: "Degeneration (wear and tear) of the articular cartilage of the neck joints." []
is_a: HP:0002758 ! Osteoarthritis
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:33:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025267
name: Snoring
def: "Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping." []
synonym: "Snore" EXACT []
synonym: "Snores" EXACT []
synonym: "Snoring symptoms" EXACT []
is_a: HP:0002360 ! Sleep disturbance
is_a: HP:0002795 ! Functional respiratory abnormality
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:24:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025268
name: Stuttering
def: "Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds." []
synonym: "Stammering" EXACT layperson [ORCID:0000-0002-0736-9199]
synonym: "Stuttering" EXACT layperson []
is_a: HP:0002167 ! Neurological speech impairment
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:27:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025269
name: Panic attack
def: "A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying." []
synonym: "Panic attack" EXACT layperson []
is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:34:22Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025270
name: Abnormality of esophagus physiology
def: "Any physiological abnormality of the esophagus." []
synonym: "Functional abnormality of the esophagus" EXACT []
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:39:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025271
name: Esophageal spasms
def: "Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful." []
is_a: HP:0025270 ! Abnormality of esophagus physiology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:45:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025272
name: Melasma
def: "Symmetrical, blotchy, brownish facial pigmentation." []
comment: Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes.
synonym: "Chloasma" EXACT []
synonym: "Facial melanosis" EXACT []
is_a: HP:0000953 ! Hyperpigmentation of the skin
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:48:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025273
name: Achilles tendonitis
def: "Inflammation of the Achilles tendon." []
is_a: HP:0025230 ! Tendonitis
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:52:07Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025274
name: Ovarian dermoid cyst
def: "An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others." []
synonym: "Mature cystic ovarian teratoma" EXACT []
is_a: HP:0000138 ! Ovarian cyst
is_a: HP:0012226 ! Ovarian teratoma
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:56:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025275
name: Lateral
def: "Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T14:47:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025276
name: Abnormality of skin adnexa physiology
def: "Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." []
is_a: HP:0001574 ! Abnormality of the integument
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T14:51:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025277
name: Gustatory sweating
def: "Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating)." [PMID:22798976]
is_a: HP:0025276 ! Abnormality of skin adnexa physiology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:12:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025278
name: Cold-induced sweating
def: "Sweating provoked by cold temperature rather than by heat." []
is_a: HP:0025276 ! Abnormality of skin adnexa physiology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:16:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025279
name: Migratory
is_a: HP:0011008 ! Temporal pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:18:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025280
name: Pain characteristic
def: "A pain characteristic is defined as a subjective category or type of pain." []
is_a: HP:0012823 ! Clinical modifier
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:21:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025281
name: Sharp
def: "Applied to pain that is described as sharp, i.e., sudden and severe." []
is_a: HP:0025280 ! Pain characteristic
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:23:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025282
name: Dull
def: "Applied to pain that is dull, i.e., not severe but that continues over a long period of time." []
synonym: "Dull pain" EXACT []
is_a: HP:0025280 ! Pain characteristic
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:23:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025283
name: Tender
def: "Applied to pain that is tender, i.e., elicited by touching the affected body part." []
is_a: HP:0025280 ! Pain characteristic
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:25:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025284
name: Sleep-interrupting
def: "Applied to pain that wakes the affecting individual from sleep." []
is_a: HP:0025280 ! Pain characteristic
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:26:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025285
name: Aggravated by
def: "An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe." []
synonym: "Exacerbated by" EXACT []
is_a: HP:0012823 ! Clinical modifier
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:29:42Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025286
name: Aggravated by activity
def: "Applied to a sign or symptom that is aggravated by activity, exertion, or exercise." []
synonym: "Aggravated by exercise" EXACT []
synonym: "Aggravated by exertion" EXACT []
synonym: "Worsened by activity" EXACT []
is_a: HP:0025285 ! Aggravated by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:30:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025287
name: Axial
def: "Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:34:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025289
name: Cervical lymphadenopathy
def: "Enlarged lymph nodes in the neck." []
synonym: "Swollen lymph nodes in the neck" EXACT layperson []
is_a: HP:0002716 ! Lymphadenopathy
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:40:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025290
name: Upper-body predominance
def: "Applies to an abnormality that affects the arms, trunk, head more than the legs." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:11:12Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025291
name: Lower-body predominance
def: "Applies to an abnormality that affects the legs more than the arms, trunk, head." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:12:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025292
name: Acral
def: "Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose)." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:15:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025293
name: Distributed along Blashko lines
def: "Applies to an abnormality whose localization corresponds to the lines of Blashko, which are thought to reflect the pathways of epidermal cell migration and proliferation during the development of the fetus." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:16:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025294
name: Dermatomal
def: "Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution." [PMID:19772560]
comment: This distribution can be seen with certain skin findings such as shingles. The term radicular is used to describe a dermatomal distribution of nerve root pain.
synonym: "Radicular" EXACT []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:17:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025295
name: Herpetiform
def: "Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:19:13Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025296
name: Morbilliform
def: "Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:20:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025297
name: Prolonged
def: "Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection)." []
is_a: HP:0011008 ! Temporal pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:26:30Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025300
name: Malar rash
def: "An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose." []
comment: This type of rash is seen in lupus erythematosus, but also in other diseases such as rosacea and seborrheic dermatitis.
synonym: "Butterfly rash" EXACT []
synonym: "Cheekbone rash" EXACT []
is_a: HP:0000988 ! Skin rash
property_value: http://purl.org/dc/elements/1.1/date 2016-12-20T11:59:38Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025301
name: Nocturnal
def: "Applies to an abnormality that occurs in or is exacerbated during the night." []
is_a: HP:0011008 ! Temporal pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-20T12:30:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025302
name: Diurnal
def: "Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time." []
is_a: HP:0011008 ! Temporal pattern
property_value: http://purl.org/dc/elements/1.1/date 2016-12-20T12:31:12Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025303
name: Episodic
def: "Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present." []
comment: In our definition, episodic is synonymous with intermittent and recurrent. The term does not imply any particular temporal pattern of the recurrence.
synonym: "Intermittant" EXACT []
synonym: "Now and then" EXACT layperson []
is_a: HP:0031796 ! Recurrent
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T00:51:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025304
name: Periodic
def: "Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length." []
is_a: HP:0031796 ! Recurrent
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T00:55:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025305
name: Quotidian
def: "Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours)." []
is_a: HP:0025304 ! Periodic
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T00:57:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025306
name: Acute emergence over minutes
def: "Acute appearance of disease manifestations in a period of minutes." []
is_a: HP:0011009 ! Acute
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:00:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025307
name: Acute emergence over hours
def: "Acute appearance of disease manifestations in a period of hours." []
is_a: HP:0011009 ! Acute
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:01:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025308
name: Acute emergence over days
def: "Acute appearance of disease manifestations in a period of days." []
is_a: HP:0011009 ! Acute
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:01:46Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025309
name: Abnormal pupil shape
def: "A deviation from the normal circular shape of the pupil" []
synonym: "Irregular pupil" EXACT layperson [ORCID:0000-0002-0736-9199]
is_a: HP:0000615 ! Abnormal pupil morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:08:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025310
name: Oval pupil
def: "An abnormal pupil shape that is elliptical, i.e., egg-like." []
is_a: HP:0025309 ! Abnormal pupil shape
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:11:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025311
name: Anterior chamber cyst
def: "A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material." []
is_a: HP:0000593 ! Abnormal anterior chamber morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:32:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025312
name: Esophoria
def: "A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters." []
is_a: HP:0020045 ! Esodeviation
is_a: HP:0032011 ! Heterophoria
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:43:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025313
name: Exophoria
def: "A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia." []
is_a: HP:0020049 ! Exodeviation
is_a: HP:0032011 ! Heterophoria
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:46:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025314
name: Choroidal nevus
def: "A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia." []
is_a: HP:0000610 ! Abnormal choroid morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:54:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025315
name: Exacerbated by head trauma
def: "Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma." []
comment: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease is an autosomal recessive disorder characterized by ataxia, spasticity, and variable optic atrophy. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma.
is_a: HP:0025285 ! Aggravated by
property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T02:22:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025317
name: Cubitus varus
def: "A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body." []
comment: Normally, if the arm is held in full extension, the forearm is aligned in valgus with respect to the arm. A decrease in valgus with neutral alignment (loss of angulation) is called cubitus rectus, and a further decreases is called varus. Cubitus varus may be congenital (often progressive), or may be a complication of humerus fracture, trochlear osteonecrosis, and malunited intercondylar fracture. Radiographically, the metaphyseo-diaphyseal angle is normally 90 degrees. With cubitus varus, the angle is larger, with cubitus valgus, the angle is smaller.
is_a: HP:0009811 ! Abnormality of the elbow
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T13:20:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025318
name: Ovarian carcinoma
def: "A malignant neoplasm originating from the surface ovarian epithelium." []
synonym: "Ovarian epithelial cancer" EXACT []
xref: NCIT:C4908
is_a: HP:0100615 ! Ovarian neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-01-25T14:30:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025319
name: Rubeosis iridis
def: "Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification." [PMID:27895936]
synonym: "Neovascularization of the iris" EXACT []
is_a: HP:0007905 ! Abnormal iris vasculature
property_value: http://purl.org/dc/elements/1.1/date 2017-01-25T14:46:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025320
name: Leakage of dye on fundus fluorescein angiography
def: "Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins." []
comment: Leakage can be caused by incompetent blood vessels such as with choroidal or diabetic neovascularization. Alternatively, leakage can be associated with a diseased retinal pigment epithelium resulting in leakage of fluorescein from the choroid.
synonym: "Fluorescein leakage" EXACT []
is_a: HP:0030604 ! Abnormal fundus fluorescein angiography
property_value: http://purl.org/dc/elements/1.1/date 2017-01-25T14:52:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025321
name: Copper accumulation in liver
def: "An anomalous build up of copper (Cu) in the liver." []
synonym: "Liver copper accumulation" EXACT []
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T11:46:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025322
name: Venous occlusion
def: "Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein." []
is_a: HP:0030846 ! Abnormality of venous physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T12:05:01Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025323
name: Abnormal arterial physiology
def: "An anomaly of arterial function." []
is_a: HP:0030163 ! Abnormal vascular physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T12:08:38Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025324
name: Arterial occlusion
def: "Blockage of blood flow through an artery." []
is_a: HP:0025323 ! Abnormal arterial physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T12:09:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025325
name: Sparse medial eyebrow
def: "Decreased density/number and/or decreased diameter of medial eyebrow hairs." []
synonym: "Medial thinning of eyebrow" EXACT []
is_a: HP:0045075 ! Sparse eyebrow
property_value: http://purl.org/dc/elements/1.1/date 2017-02-04T16:43:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025326
name: Retinal arterial occlusion
def: "Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina." []
comment: Retinal artery occlusion can manifest as painless loss of monocular vision.
synonym: "Retinal artery occlusion" EXACT []
is_a: HP:0000630 ! Abnormal retinal artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-04T17:22:01Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025327
name: Decreased renal parenchymal thickness
def: "Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans." [PMID:19254392, PMID:2117353]
comment: The thickness of the renal parenchyma decreases with age. The thickness of the renal parenchyma is correlated with renal function.
is_a: HP:0012210 ! Abnormal renal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T10:48:34Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025328
name: Antepartum hemorrhage
def: "Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby." []
synonym: "Antepartum haemorrhage" EXACT HP:0045076 []
synonym: "Prepartum haemorrhage" EXACT HP:0045076 []
synonym: "Prepartum hemorrhage" EXACT []
is_a: HP:0011029 ! Internal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:09:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025329
name: Anti-glutamic acid decarboxylase antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase." [PMID:27356651]
comment: The enzyme called glutamate decarboxylase or glutamic acid decarboxylase (GAD) catalyyzes the conversion of glutamate to gamma aminobutyric acid (g-Amino butyric acid, GABA). Autoantibodies against GAD  this antibody may block the conversion of glutamate to GABA. and lead to a reduction in the amount of GABA in the nervous system.
synonym: "Anti-GAD antibody positivity" EXACT HP:0045077 []
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:15:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025330
name: Downgaze palsy
def: "A limitation of the ability to direct one's gaze below the horizontal meridian." [PMID:8913186]
synonym: "Downgaze paresis" EXACT []
synonym: "Supranuclear downgaze palsy" EXACT []
is_a: HP:0000511 ! Vertical supranuclear gaze palsy
property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:41:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025331
name: Upgaze palsy
def: "A limitation of the ability to direct one's gaze above the horizontal meridian." []
synonym: "Supranuclear upgaze palsy" EXACT []
synonym: "Upgaze paresis" EXACT []
is_a: HP:0000511 ! Vertical supranuclear gaze palsy
property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:54:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025332
name: Abnormality of foot cortical bone
def: "An anomaly of the outer shell (cortex) of a foot bone." []
synonym: "Abnormality of the cortex of foot bones" EXACT []
is_a: HP:0003103 ! Abnormal cortical bone morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T12:09:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025333
name: Cortical thinning of foot bones
def: "A reduction in the thickness of the outer shell (cortex) of foot bones." [PMID:24055421]
is_a: HP:0025332 ! Abnormality of foot cortical bone
property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T12:10:34Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025334
name: Triggered by emotion
def: "Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion)." []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T11:38:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025335
name: Delayed ability to stand
def: "A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months." [PMID:23321410]
is_a: HP:0002194 ! Delayed gross motor development
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T11:48:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025336
name: Delayed ability to sit
def: "A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age." [PMID:23321410]
is_a: HP:0002194 ! Delayed gross motor development
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T12:04:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025337
name: Red eye
def: "A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera." []
is_a: HP:0008047 ! Abnormality of the vasculature of the eye
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T12:27:39Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025338
name: Circumlimbal hyperemia
def: "A ring of redness at the limbus of the eye, the border between the cornea and the sclera." []
synonym: "Ciliary limbus" EXACT []
synonym: "Circumlimbal hyperaemia" EXACT HP:0045076 []
is_a: HP:0030953 ! Conjunctival hyperemia
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T12:32:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025339
name: Superficial episcleral hyperemia
def: "Prominence of blood vessels of the superficial episcleral tissues." []
comment: The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab.
synonym: "Superficial episcleral hypaeremia" EXACT HP:0045076 []
is_a: HP:0000591 ! Abnormal sclera morphology
is_a: HP:0025337 ! Red eye
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T12:45:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025340
name: Deep episcleral hyperemia
def: "Prominence of blood vessels of the deep episcleral tissues." []
comment: The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab.
synonym: "Deep episcleral hyperaemia" EXACT HP:0045076 []
is_a: HP:0000591 ! Abnormal sclera morphology
is_a: HP:0025337 ! Red eye
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:00:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025341
name: Corneal keratic precipitates
def: "An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea." []
comment: Keratic precipitates may collect in a triangular pattern called Arit triangle with the base down on the lower part of theendothelial surface or may be distributed diffusely accross the endothelium. If they are greasy in appearance, the term mutton fat keratic precipitate is used.
is_a: HP:0011488 ! Abnormal corneal endothelium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:03:48Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025342
name: Central retinal artery occlusion
def: "Blockage of blood flow in the central retinal artery." []
comment: Central retinal artery occlusion canmanifest as sudden, acute, and painless loss of vision in one eye.
is_a: HP:3000032 ! Abnormality of central retinal artery
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:17:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025343
name: Lupus anticoagulant
def: "Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces." [PMID:27331311]
comment: Most individuals with lupus anticoagulant do not have lupus erythematosus or other systemic autoimmune disorders. One of the tests for lupus anticoagulant is the dilute Russell's viper venom time (dRVVT).
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:19:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025344
name: Interlobular bile duct destruction
def: "Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts)." [PMID:16177252]
comment: In primary biliary cirrhosis, interlobular bile duct destruction is immune mediated.
is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:44:46Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025345
name: Abnormality of circulating beta-2-microglobulin level
def: "A deviation from the normal concentration of beta-2-microglobulin in the blood." [PMID:16166103]
synonym: "Abnormality of circulating B2M level" EXACT HP:0045077 []
synonym: "Abnormality of circulating beta2 microglobulin level" EXACT []
synonym: "Abnormality of circulating beta2-m level" EXACT HP:0045077 []
synonym: "Abnormality of circulating beta2m level" EXACT HP:0045077 []
is_a: HP:0025465 ! Abnormal circulating beta globulin level
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:50:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025346
name: Increased circulating beta-2-microglobulin level
def: "Elevated concentration of beta-2-microglobulin in the blood." []
synonym: "Elevated circulating beta-2-microglobulin level" EXACT []
is_a: HP:0025345 ! Abnormality of circulating beta-2-microglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:53:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025347
name: Decreased circulating beta-2-microglobulin level
def: "Reduced concentration of beta-2-microglobulin in the blood." []
synonym: "Reduced circulating beta-2-microglobulin level" EXACT []
is_a: HP:0025345 ! Abnormality of circulating beta-2-microglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:54:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025348
name: Abnormality of the corneal limbus
def: "An anomaly of the margin of the cornea overlapped by the sclera." []
is_a: HP:0000481 ! Abnormal cornea morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T23:58:19Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025349
name: Limbal edema
def: "Swelling of the margin of the cornea overlapped by the sclera." []
is_a: HP:0025348 ! Abnormality of the corneal limbus
property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T23:59:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025350
name: Giant conjunctival papillae
def: "Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein." [PMID:26278858]
is_a: HP:0030946 ! Conjunctival papillae
property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:05:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025351
name: Recurrent interdigital mycosis
def: "A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers." []
synonym: "Recurrent interdigital tinea" EXACT []
is_a: HP:0002841 ! Recurrent fungal infections
property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:11:13Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025352
name: Autosomal dominant germline de novo mutation
def: "Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation." []
is_a: HP:0000006 ! Autosomal dominant inheritance
property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:19:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025353
name: Anti-multiple nuclear dots antibody positivity
def: "A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells." [PMID:11882049]
comment: Sp100 is the main antigenic target of MND reactivity. Anti-MND activity can be seen in primary biliary cirrhosis and in other conditions.
synonym: "Anti-MND antibodies" EXACT HP:0045077 []
is_a: HP:0003493 ! Antinuclear antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:25:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025354
name: Abnormal cellular phenotype
def: "An anomaly of cellular morphology or physiology." []
is_a: HP:0000118 ! Phenotypic abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:29:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025355
name: Retinal arterial macroaneurysms
def: "Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative." []
comment: Retinal arterial macroaneurysms can be visualized on fundoscopy and by fluorescein angiography or spectral-domain optical coherence tomography.
is_a: HP:0000630 ! Abnormal retinal artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:33:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025356
name: Psychomotor retardation
comment: A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. {xref="PMID:21044654"}
synonym: "Motormental retardation" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Psychomotor impairment" EXACT [https://orcid.org/0000-0001-5208-3432]
synonym: "Psychomotor slowing" EXACT [https://orcid.org/0000-0001-5208-3432]
is_a: HP:0000708 ! Behavioral abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T11:43:42Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025357
name: Erratic myoclonus
def: "A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous." []
comment: Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599.
synonym: "Fragmentary myoclonus" EXACT []
is_a: HP:0001336 ! Myoclonus
property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T12:01:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025358
name: Uveal ectropion
def: "Presence of iris pigment epithelium on the anterior surface of the iris." []
synonym: "Ectropion uveae" EXACT []
is_a: HP:0000525 ! Abnormality iris morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T12:10:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025359
name: Polygonal renal calices
def: "An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance)." []
synonym: "Polygonal calices" EXACT []
synonym: "Polygonal-shaped calices" EXACT []
is_a: HP:0011130 ! Abnormal renal calyx morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T12:14:46Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025360
name: Polycalycosis
def: "Increased number of calices of the kidney." [PMID:19002724]
is_a: HP:0011130 ! Abnormal renal calyx morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T12:17:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025361
name: Abnormality of medullary pyramid morphology
def: "A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla." []
is_a: HP:0100957 ! Abnormal renal medulla morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T13:15:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025362
name: Renal medullary pyramid hypoplasia
def: "Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla." [PMID:16293636]
synonym: "Hypoplasia of the medullary pyramids" EXACT []
is_a: HP:0025361 ! Abnormality of medullary pyramid morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T13:16:42Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025363
name: Endocapillary hypercellularity
def: "Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina." [PMID:19571790]
comment: The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium.
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T13:33:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025364
name: Extracapillary hypercellularity
def: "Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells." []
synonym: "Extracapillary glomerular hypercellularity" EXACT []
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:07:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025367
name: Trichoepithelioma
def: "A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age." []
is_a: HP:0012843 ! Hair follicle neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:24:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025368
name: Abnormality of growth plate morphology
def: "A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone)." []
is_a: HP:0011842 ! Abnormality of skeletal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:32:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025369
name: Thick growth plates
def: "Increased thickness (dimension along the axis of the bone) of the growth plate." []
is_a: HP:0025368 ! Abnormality of growth plate morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:40:12Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025370
name: Abnormal ossification of the sacrum
def: "Abnormal bone tissue formation (ossification) affecting the sacrum." []
is_a: HP:0005107 ! Abnormal sacrum morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:45:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025371
name: Delayed ossification of the sacrum
def: "Formation of the sacrum bone tissue occurs later than age-adjusted norms." []
is_a: HP:0025370 ! Abnormal ossification of the sacrum
property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:47:07Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025372
name: Loud snoring
def: "Particularly loud snoring, snoring at high volume." [NCIT:C121601]
synonym: "Has loud snoring" EXACT []
synonym: "Have loud snoring" EXACT []
synonym: "Heavy snoring" EXACT []
synonym: "Snores loudly" EXACT []
is_a: HP:0025267 ! Snoring
property_value: http://purl.org/dc/elements/1.1/date 2017-03-15T11:53:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025373
name: Interictal EEG abnormality
def: "Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge." [PMID:15961864, PMID:25012363]
is_a: HP:0002353 ! EEG abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-03-15T13:25:46Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025374
name: Duplicated odontoid process
def: "The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates." []
comment: The odontoid process forms from different ossification centers. Two centers normally appear on each side of the midline around the fifth or sixth month of fetal life. These two centers usually fuse by one year of age. When there is a delay in fusion, a longitudinal midline cleft may be seen. Duplication of the odontoid process most likely is the result of\na lack of fusion of these two centers of ossification [from PMID:9367321].
is_a: HP:0003310 ! Abnormality of the odontoid process
property_value: http://purl.org/dc/elements/1.1/date 2017-04-08T13:00:41Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025375
name: Orthotopic os odontoideum
def: "Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus." []
is_a: HP:0005667 ! Os odontoideum
property_value: http://purl.org/dc/elements/1.1/date 2017-04-08T13:10:36Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025376
name: Hyperglutaminuria
def: "An increased concentration of glutamine in the urine." [PMID:11283793]
synonym: "Glutaminuria" EXACT []
is_a: HP:0008353 ! Neutral hyperaminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2017-04-08T13:20:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025377
name: Triggered by exertion
def: "Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise." []
comment: For convenience, several HPO terms exist with the phrase 'Exercise-induced' in their label. This is meant to be logically equvalent to the combination of the basis term and this modifier.
synonym: "Triggered by physical exercise" EXACT []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2017-04-08T13:36:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025379
name: Anti-thyroid peroxidase antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase." []
comment: Thyroid peroxidase (TPO) antibody positivity is found in most patients with chronic lymphocytic thyroiditis (Hashimoto disease) and over half of patients with Graves disease.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T10:42:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025380
name: Increased serum androstenedione
def: "Increased level of circulating 4-androstenedione." []
comment: 4-Androstenedione is the common precursor of the androgen and estrogen sex hormones and is produced in the adrenal glands and the gonads.
is_a: HP:0030348 ! Increased circulating androgen level
property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T10:48:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025381
name: Anti-pituitary antibody positivity
def: "Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function." [PMID:17341554]
comment: The presence of autoantibodies (immunoglobulins) in the serum that react against pituitary tissue.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T10:52:38Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025382
name: Hypodipsia
def: "Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake." [PMID:25949488]
is_a: HP:0030082 ! Abnormal drinking behavior
property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T11:10:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025383
name: Dorsocervical fat pad
def: "An area of fat accumulation at the back of the neck in the form of a hump." [PMID:22301856]
synonym: "Buffalo hump" EXACT layperson []
is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue
property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T11:39:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025384
name: Diet-resistant subcutaneous adipose tissue
def: "Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery." [PMID:22301856]
comment: In certain diseases such as multiple symmetric lipomatosis, lipedema and Dercum's disease, accumulation of subcutaneous adipose tissue may result from growth of an abnormal brown stem cell population or from vascular or lymphatic dysfunction, with the result that the subcutaneous adipose tissue is difficult or impossible to reduce by caloric limitation and increased energy expenditure.
is_a: HP:0009124 ! Abnormal adipose tissue morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T11:45:42Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025385
name: Diet-resistant subcutaneous adipose tissue below waist
def: "Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery." []
is_a: HP:0025384 ! Diet-resistant subcutaneous adipose tissue
property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T11:55:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025386
name: Bitemporal hollowing
def: "Depression of profile in both temporal regions." []
is_a: HP:0000606 ! Abnormality of the periorbital region
property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T12:00:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025387
name: Pill-rolling tremor
def: "A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other." []
comment: The name pill rolling derives from the movements that pharmacists made in earlier times when making pills by rolling them together.
synonym: "Pill rolling" EXACT []
is_a: HP:0002322 ! Resting tremor
property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T12:11:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025388
name: Thyroid nodule
def: "A nodular lesion that develops in the thyroid gland. The term \"thyroid nodule\" refers to any abnormal growth that forms a lump in the thyroid gland." []
comment: The vast majority of thyroid nodules are benign (noncancerous), but a small proportion of thyroid nodules do contain thyroid cancer.
is_a: HP:0011772 ! Abnormality of thyroid morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T11:06:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025389
name: Pulmonary interstitial high-resolution computed tomography abnormality
def: "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities." [PMID:23247773]
synonym: "Pulmonary interstitiatial HRCT abnormality" EXACT HP:0045077 []
is_a: HP:0006530 ! Interstitial pulmonary abnormality
is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T12:46:42Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025390
name: Reticular pattern on pulmonary HRCT
def: "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773]
comment: The constituents of the reticular pattern may be all or some of the following: interlobular septal thickening, intralobular interstitial thickening, wall cysts of honeycombing, peribronchovascular interstitial thickening and traction bronchiectasis/bronchiolectasis
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T12:55:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025391
name: Crazy paving pattern on pulmonary HRCT
def: "The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones." [PMID:23247773]
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T12:57:46Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025392
name: Nodular pattern on pulmonary HRCT
def: "A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter." [PMID:23247773]
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T12:59:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025393
name: Reticulonodular pattern on pulmonary HRCT
def: "Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography." [PMID:23247773]
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:02:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025394
name: Cystic pattern on pulmonary HRCT
def: "On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema." [PMID:23247773]
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:03:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025395
name: Combined cystic and ground-glass pattern on pulmonary HRCT
def: "Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography," [PMID:23247773]
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:05:42Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025396
name: Decreased attenuation pattern on pulmonary HRCT
def: "Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography." [PMID:23247773]
synonym: "Black lung pattern on pulmonary HRCT" EXACT []
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:08:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025397
name: Mosaic attenuation pattern on pulmonary HRCT
def: "A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography." [PMID:23247773]
comment: Mosaic attenuation pattern may represent patchy interstitial disease, obliterative small airways disease, or occlusive small vascular disease.
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:10:01Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025398
name: Nodular-perilymphatic pattern on pulmonary HRCT
def: "A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution." [PMID:23247773]
is_a: HP:0025392 ! Nodular pattern on pulmonary HRCT
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:12:36Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025399
name: Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT
def: "A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree." [PMID:23247773]
comment: The pattern reflects a spectrum of endobronchiolar and peribronchiolar disorders, including mucoid impaction, inflammation, fibrosis and occasionally endovascular disorders such as neoplastic processes.
is_a: HP:0025392 ! Nodular pattern on pulmonary HRCT
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:13:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025400
name: Nodular-random pattern on pulmonary HRCT
def: "A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern." [PMID:23247773]
comment: Miliary tuberculosis and miliary metastasis are two diseases entities that can be characterized by a ranom nodular pattern on pulmonary HRCT.
is_a: HP:0025392 ! Nodular pattern on pulmonary HRCT
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:13:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025401
name: Staring gaze
def: "An abnormality in which the eyes are held permanently wide open." [PMID:22675666]
comment: This is a neurological anomaly that can be observed in Parkinson and certain other diseases.
synonym: "Staring eyes" EXACT []
is_a: HP:0012373 ! Abnormal eye physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:03:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025402
name: Square-wave jerks
def: "Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion." [PMID:6443573]
is_a: HP:0032114 ! Saccadic intrusion
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:07:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025403
name: Stooped posture
def: "A habitual positioning of the body with the head and upper back bent forward." []
is_a: HP:0100022 ! Abnormality of movement
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:18:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025404
name: Abnormal visual fixation
def: "Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location." []
is_a: HP:0000496 ! Abnormality of eye movement
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:29:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025405
name: Visual fixation instability
def: "A deficit in the ability to fixate eye movements in order to stabilize images on the retina" []
synonym: "Instability of ocular fixation" EXACT []
is_a: HP:0025404 ! Abnormal visual fixation
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:31:07Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025406
name: Asthenia
def: "A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body." []
comment: Asthenia is to be distinguished from fatigue, because asthenia refers to a sensation of exhaustion which occurs before any effort. Asthenia is to be distinguished from myasthenia, which means a specific weakness of one or more muscles.
is_a: HP:0025142 ! Constitutional symptom
property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:48:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025407
name: Rectourethral fistula
def: "An abnormal connection (fistula) between the rectum and the urethra." []
synonym: "Urethrorectal fistula" EXACT []
is_a: HP:0010480 ! Urethral fistula
is_a: HP:0100590 ! Rectal fistula
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T10:24:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025408
name: Abnormal spleen morphology
def: "Any anomaly of the structure of the spleen." []
is_a: HP:0001743 ! Abnormality of the spleen
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T10:55:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025409
name: Abnormal spleen physiology
def: "Any anomaly of the function of the spleen." []
is_a: HP:0001743 ! Abnormality of the spleen
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T10:56:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025410
name: Splenogonadal fusion
def: "Joining of the spleen and a gonad during embryological development." [PMID:24137272]
comment: The spleen is located in close proximitiy to the gonads during early embryological development, which may facilitate fusion. Splenogonadal fusion may be divided into continuous or discontinuous types, with the gonad being directly attached to the spleen in the continuous type . The discontinuous type consists of gonadal fusion with an accessory spleen or ectopic splenic tissue.
is_a: HP:0000812 ! Abnormal internal genitalia
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T10:58:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025413
name: Fossa navicularis urethral stricture
def: "A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis." [PMID:22022062]
comment: The fossa navicularis is the small normal dilatation of the distal penile urethra.
is_a: HP:0012227 ! Urethral stricture
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:16:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025414
name: Pendulous urethral stricture
def: "A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa." [PMID:22022062]
is_a: HP:0012227 ! Urethral stricture
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:17:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025415
name: Bulbar urethral stricture
def: "A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis." []
is_a: HP:0012227 ! Urethral stricture
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:17:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025416
name: Vaginal stricture
def: "A narrowing of the vagina owing to scar formation." []
is_a: HP:0000142 ! Abnormal vagina morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:24:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025417
name: Patulous urethra
def: "Urethra more open or expanded than normal." []
is_a: HP:0000795 ! Abnormality of the urethra
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:39:39Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025418
name: Renal cortical necrosis
def: "Death of tissue in the outer part of the kidney." []
comment: Renal cortical necrosis is a type of actue kidney injury that results from insufficient perfusion of the renal cortex. The diagnosis can be confirmed by computed tomography angiography and in some cases biopsy.
synonym: "Necrosis of the kidney cortex" EXACT []
is_a: HP:0011035 ! Abnormal renal cortex morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:45:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025419
name: Pulmonary pneumatocele
def: "An air-filled cystic space within a lung." []
synonym: "Pulmonary pneumatocoele" EXACT HP:0045076 []
is_a: HP:0032445 ! Pulmonary cyst
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:52:30Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025420
name: Diffuse alveolar hemorrhage
def: "A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen." [PMID:23678356]
comment: Diffuse alveolar hemorrhage is a life-threatening and medical emergency that can be caused by numerous disorders and presents with hemoptysis, anemia, and diffuse alveolar infiltrates.
synonym: "Diffuse alveolar haemorrhage" EXACT HP:0045076 []
is_a: HP:0040223 ! Pulmonary hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:16:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025421
name: Pneumomediastinum
def: "The presence of free air in the mediastinum." [PMID:28217437]
comment: Spontaneous pneumomediastinum (SPM) is defined as the non-traumatic presence of free air in the mediastinum in a patient with no known underlying disease. The most common etiology for SPM is alveolar rupture, most commonly due to an asthma exacerbation, but also seen with barotrauma, intrathoracic pressure increase, the valsalva maneuver, and withdrawal symptoms of illicit drugs. Other causes of pneumomediastinum include coughing, mechanical ventilation, pneumonitis, emphysema, lung fibrosis, acute respiratory distress syndrome, heroin, marijuana, cocaine use, gas producing infections in the head and neck, tracheobronchial or esophageal rupture and facial fractures that lead to disruption of maxillary sinus walls.
is_a: HP:0045026 ! Abnormality of the mediastinum
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:21:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025422
name: Pleural cyst
def: "A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance." [PMID:12162234, PMID:18493546]
comment: Pleuropericardial cysts usually are congenital anomalies. after the third week of gestation, the mesoderm separates itself to form pleural, pericardial and peritoneal spaces. Incomplete partitioning can result in a pleuropericardial cyst.
is_a: HP:0002103 ! Abnormality of the pleura
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:33:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025423
name: Abnormal larynx morphology
def: "Any anomaly of the structure of the larynx." []
is_a: HP:0001600 ! Abnormality of the larynx
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:44:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025424
name: Abnormal larynx physiology
def: "Any anomaly of the function of the larynx." []
is_a: HP:0001600 ! Abnormality of the larynx
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:46:36Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025425
name: Laryngospasm
def: "A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe." []
is_a: HP:0025424 ! Abnormal larynx physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:48:07Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025426
name: Abnormal bronchus morphology
alt_id: HP:0002109
def: "Any anomaly of the morphology of the bronchi." []
synonym: "Abnormality of the bronchi" EXACT []
is_a: HP:0005607 ! Abnormal tracheobronchial morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:50:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025427
name: Abnormal bronchus physiology
def: "Any anomaly of the function of the bronchi." []
is_a: HP:0002795 ! Functional respiratory abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:51:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025428
name: Bronchospasm
def: "A spasm (sudden, involuntary constriction) of the bronchioles." []
is_a: HP:0025427 ! Abnormal bronchus physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:52:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025429
name: Abnormal cry
def: "Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation." []
is_a: HP:0001608 ! Abnormality of the voice
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:56:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025430
name: High-pitched cry
def: "A type of crying in an abnormally high-pitched voice." []
comment: This type of cry may be observed with cerebral irritability due to factors such as  meningitis, hydrocephalus, or kernicterus. High-pitched cry may also be observed with other conditions including Cornelia-de-Lange syndrome.
is_a: HP:0025429 ! Abnormal cry
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:59:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025431
name: Staccato cry
def: "A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations." []
is_a: HP:0025429 ! Abnormal cry
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T13:07:13Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025432
name: Acanthoma
def: "A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm." []
is_a: HP:0008069 ! Neoplasm of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T15:58:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025433
name: Decreased lecithin cholesterol acyl transferase activity
def: "Reduced activity of the enzyme lecithin cholesterol acyl transferase." [PMID:25172171]
comment: Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C).
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T16:31:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025434
name: Reduced hemolytic complement activity
def: "A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum." [PMID:20351687]
comment: Individual complement components can be quantified however this does not provide any information as to the activity of the pathway. The CH50 is a screening assay for the activation of the classical complement pathway and it is sensitive to the reduction, absence and/or inactivity of any component of the pathway. The CH50 tests the functional capability of serum complement components of the classical pathway to lyse sheep red blood cells (SRBC) pre-coated with rabbit anti-sheep red blood cell antibody (haemolysin). When antibody-coated SRBC are incubated with test serum, the classical pathway of complement is activated and haemolysis results. If a complement component is absent, the CH50 level will be zero; if one or more components of the classical pathway are decreased, the CH50 will be decreased.
is_a: HP:0005339 ! Abnormality of complement system
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T16:53:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025435
name: Increased lactate dehydrogenase activity
def: "An elevated activity of the enzyme lactate dehydrogenase in serum." []
comment: Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate.
is_a: HP:0045040 ! Abnormal lactate dehydrogenase activity
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T17:11:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025436
name: Elevated serum 11-deoxycortisol
def: "Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone." []
synonym: "Elevated serum 21-hydroxyprogesterone" EXACT []
synonym: "Elevated serum deoxycorticosterone" EXACT []
is_a: HP:0003118 ! Increased circulating cortisol level
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T17:22:34Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025437
name: Macrocephalic sperm head
def: "Increased size of the head of sperm." [PMID:16500351]
is_a: HP:0012865 ! Sperm head anomaly
property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T17:25:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025439
name: Pharyngitis
def: "Inflammation (due to infection or irritation) of the pharynx." []
synonym: "Swollen throat" EXACT layperson [http://www.livestrong.com/article/153098-a-sore-and-swollen-throat/]
is_a: HP:0000600 ! Abnormality of the pharynx
property_value: http://purl.org/dc/elements/1.1/date 2017-04-24T00:03:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025440
name: Warm reactive autoantibody positivity
def: "Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C." [PMID:15491963]
comment: Warm reactive antibodies react with the patients own RBCs and typically bind to all reagent  or  donor  RBCs  against  which  they  are  tested. However,  they  sometimes have  specificity  (absolute  or  relative) for a blood group antigen, most commonly a member of the Rh blood group system. Warm reactive autoantibodies are usually polyclonal IgG antibodies, although IgA or monomeric  IgM  antibodies  are  seen occasionally.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2017-04-24T00:16:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025441
name: Achilles tendon calcification
def: "Ectopic deposition of calcium salts in the Achilles tendon." []
synonym: "Calcification of the Achilles tendon" EXACT []
is_a: HP:0005109 ! Abnormality of the Achilles tendon
property_value: http://purl.org/dc/elements/1.1/date 2017-04-24T00:51:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025443
name: Abnormal cardiac atrial physiology
def: "An abnormality of the function of the cardiac atria." []
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-29T17:10:13Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025444
name: Reduced amygdala volume
def: "A decrease in the volume (size) of the amygdyla." []
synonym: "Decrease in amygdala volume" EXACT []
is_a: HP:0007343 ! Abnormal morphology of the limbic system
property_value: http://purl.org/dc/elements/1.1/date 2017-04-29T21:34:14Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025445
name: Morphological abnormality of the papillary muscles
def: "Any structural anomaly of the papillary muscles of the left ventricle." [PMID:9034636]
comment: There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole.
is_a: HP:0001711 ! Abnormal left ventricle morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T10:43:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025446
name: Anomalous insertion of papillary muscle directly into anterior mitral leaflet
def: "A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet." [PMID:1884449]
comment: This malformation consists of a direct continuity between a hypertrophied papillary muscle and the anterior mitral leaflet (Normally, the papillary muscle is connected to the leaflet via the chordae tendinae). Themalformation can be identified echocardiographically. It results in a long rigid area of mid-cavity narrowing that in turn can cause left ventricular outflow tract obstruction.
is_a: HP:0025445 ! Morphological abnormality of the papillary muscles
property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T10:50:30Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025447
name: Displacement of the papillary muscles
def: "Abnormal location of the insertion of a papillary muscle into the left ventricular wall." []
is_a: HP:0025445 ! Morphological abnormality of the papillary muscles
property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T10:59:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025448
name: Anterior displacement of the papillary muscles
def: "Abnormally anterior location of the papillary muscles of the left ventricle." [PMID:7850958]
comment: Possible mechanisms for systolic anterior motion with anterior displacement of the papillary muscles (PM): (1) the normal posterior component of PM tension is reduced by anterior displacement of the muscle tips; (2) interposing the leaflets into the streamlines of flow causes drag forces with an anterior component; and (3) pulling up the posterior leaflet so that it meets the anterior leaflet closer to its base creates a long, overlapping residual leaflet, as seen clinically. This leaflet portion is relatively free to move anteriorly, unlike the coapted leaflet bodies that are restrained by the balance of ventricular and atrial pressures acting across them. The angle between the posterior leaflet and posterior wall is increased [PMID:7850958].
synonym: "Anteriorly displaced papillary muscles" EXACT []
is_a: HP:0025447 ! Displacement of the papillary muscles
property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T11:00:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025449
name: Apically displaced anterolateral papillary muscle
def: "Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view," []
synonym: "Apically displaced papillary muscles" EXACT []
is_a: HP:0025447 ! Displacement of the papillary muscles
property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T11:02:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025451
name: Testicular adrenal rest tumor
def: "Testicular adrenal rest tumor (TART) isa abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm." [pmid:19956703]
is_a: HP:0010788 ! Testicular neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-05-04T10:21:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025452
name: Pyoderma gangrenosum
def: "A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer." [PMID:16858047]
comment: Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and haematological malignancies.
is_a: HP:0200042 ! Skin ulcer
property_value: http://purl.org/dc/elements/1.1/date 2017-05-04T10:30:38Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025453
name: Delayed adrenarche
def: "Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development." [PMID:10414639]
is_a: HP:0000823 ! Delayed puberty
property_value: http://purl.org/dc/elements/1.1/date 2017-05-04T10:41:47Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025454
name: Abnormal CSF metabolite level
def: "Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid." []
is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid
property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:24:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025455
name: Decreased CSF 5-hydroxyindolacetic acid
def: "CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal." [ORCID:0000-0003-0169-8159, PMID:27388694]
synonym: "Decreased CSF 5-HIAA" EXACT HP:0045077 []
synonym: "Low CSF 5-HIAA" EXACT HP:0045077 []
synonym: "Low CSF 5-hydroxyindolacetic acid" EXACT []
is_a: HP:0025454 ! Abnormal CSF metabolite level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:26:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025456
name: Abnormal CSF protein level
def: "Any deviation from the normal range of a protein concentration in the cerebrospinal fluid." []
is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid
property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:32:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025457
name: Decreased CSF protein
def: "CSF total protein level is below the lower limit of normal." [ORCID:0000-0003-0169-8159, PMID:27388694]
synonym: "Decreased cerebrospinal fluid total protein" EXACT []
synonym: "Hypoproteinorrhachia" EXACT []
synonym: "Low CSF total protein" EXACT HP:0045077 []
is_a: HP:0025456 ! Abnormal CSF protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:34:12Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025458
name: Decreased CSF albumin concentration
synonym: "CSF albumin level is below the lower limit of normal." EXACT [ORCID:0000-0003-0169-8159, PMID:27388694]
synonym: "Low CSF albumin" EXACT HP:0045077 []
is_a: HP:0500238 ! Abnormal CSF albumin concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:46:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025459
name: Increased CSF/serum albumin ratio
def: "An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration." []
is_a: HP:0030981 ! Abnormal CSF/serum albumin ratio
property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:50:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025460
name: High myoinositol in brain by MRS
def: "An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:20951217]
comment: Myo-Inositol (MI) is one of the most abundant metabolites in the human brain located mainly in glial cells and functions as an osmolyte. The concentration of MI is altered in many brain disorders including Alzheimer's disease and brain tumors.
synonym: "High myo-inositol in brain by MRS" EXACT []
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:59:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025461
name: Abnormal cell morphology
def: "Any anomaly of cell structure." []
is_a: HP:0025354 ! Abnormal cellular phenotype
property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:14:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025462
name: obsolete Abnormal cellular physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:16:16Z xsd:dateTime
is_obsolete: true
replaced_by: HP:0011017

[Term]
id: HP:0025463
name: Abnormality of redox activity
def: "An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions." []
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:17:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025464
name: Increased reactive oxygen species production
def: "An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage." [PMID:26950655]
synonym: "Increased ROS production" EXACT HP:0045077 []
synonym: "Oxidative stress" RELATED []
is_a: HP:0025463 ! Abnormality of redox activity
property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:19:52Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025465
name: Abnormal circulating beta globulin level
def: "A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood." []
comment: The name beta globulin comes from the fact that protein electrophoresis of serum proteins results in a characteristic pattern of albumins, alpha, beta, and gamma globulins.
is_a: HP:0032179 ! Abnormal circulating globulin level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:35:19Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025466
name: Beta 2-microglobulinuria
def: "Increased level of beta 2-microglobulins in the urine." []
is_a: HP:0000093 ! Proteinuria
property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:50:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025469
name: Anagen effluvium
def: "An abnormal loss of anagen (growth phase) hairs." [PMID:28332382]
comment: Anagen effluvium is the result of a disturbance of proliferative activity of hair follicle matrix cells, which leads to the narrowing and subsequent breakage of the proximal portion of hair shafts. This type of hair loss can be caused by systemic chemotherapy or by radiotherapy to the head.
is_a: HP:0011362 ! Abnormal hair quantity
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T11:20:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025470
name: Telogen effluvium
def: "A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles." []
is_a: HP:0011362 ! Abnormal hair quantity
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T11:23:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025471
name: Congenital panfollicular nevus
def: "A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation." [PMID:26822169]
is_a: HP:0003764 ! Nevus
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T11:57:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025472
name: Recurrent plantar mycosis
def: "A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching." []
is_a: HP:0002841 ! Recurrent fungal infections
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:31:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025473
name: Hyperpigmented papule
def: "A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin." []
is_a: HP:0200034 ! Papule
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:34:40Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025474
name: Erythematous plaque
def: "A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation." []
synonym: "Violaceous plaque" RELATED []
is_a: HP:0200035 ! Skin plaque
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:38:07Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025475
name: Erythematous macule
def: "A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation." []
comment: Numerous tones of red ranging from pink to violaceous are subsumed under the category of erythematous.
is_a: HP:0012733 ! Macule
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:43:04Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025476
name: Testicular lipomatosis
def: "Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm." []
comment: Testicular lipomatosis may be a sign of Cowden disease.
is_a: HP:0000035 ! Abnormal testis morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:49:41Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025477
name: Periarticular calcification
def: "Calcified deposits in soft tissue structures outside a joint." []
is_a: HP:0010766 ! Ectopic calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:23:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025478
name: Atrial standstill
def: "Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram." [PMID:23074623]
synonym: "Silent atrium" EXACT []
is_a: HP:0005115 ! Supraventricular arrhythmia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:28:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025479
name: Self-neglect
def: "Neglecting one's own needs and well-being." [PMID:24369074]
is_a: HP:0000708 ! Behavioral abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:39:41Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025480
name: Lipomyelomeningocele
def: "A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft." []
is_a: HP:0002475 ! Myelomeningocele
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:52:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025481
name: Cervical hemivertebrae
def: "Absence of one half of the vertebral body in the cervical spine." []
is_a: HP:0002937 ! Hemivertebrae
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:58:48Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025482
name: Positive perchlorate discharge test
def: "An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate dischanrge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid." [PMID:25394566]
comment: Individuals with Pendred syndrome may show a positive perchlorate discharge test.
is_a: HP:0002926 ! Abnormality of thyroid physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T16:04:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025483
name: Abnormal circulating thyroglobulin level
def: "A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones." []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T16:14:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025484
name: Increased circulating thyroglobulin level
def: "An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones." []
is_a: HP:0025483 ! Abnormal circulating thyroglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T16:15:57Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025485
name: Vaginal adenosis
def: "Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life." [PMID:9764164]
comment: Spontaneous vaginal adenosis appears to be a fairly common (present in about 10% of adult women) but mostly insignificant coincidental finding. In women prenatally exposed to diethylstilboestrol (DES), vaginal adenosis may arise in up to 90% and is associated with a high risk of vaginal carcinoma.
is_a: HP:0000142 ! Abnormal vagina morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T16:40:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025486
name: Fused labia majora
def: "The outer labia are sealed together." []
is_a: HP:0012881 ! Abnormality of the labia majora
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T17:00:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025487
name: Abnormality of bladder morphology
def: "Any structural anomaly of the bladder." []
is_a: HP:0000014 ! Abnormality of the bladder
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T17:07:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025488
name: Detrusor sphincter dyssynergia
def: "A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation." [PMID:26904418]
comment: Detrusor sphincter dyssynergia (DSD) is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, recurrent urinary tract infections, or upper tract compromise if the condition is not followed and treated appropriately. It is diagnosed most commonly during the voiding phase of urodynamic studies using EMG recordings and voiding cystourethrograms, although urethral pressure monitoring could also potentially be used.
is_a: HP:0000009 ! Functional abnormality of the bladder
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T17:09:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025489
name: Bladder duplication
def: "A congenital anomaly characterized by the presence of two bladders." [PMID:25657554]
is_a: HP:0025487 ! Abnormality of bladder morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T17:16:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025490
name: Myocardial bridging
def: "A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course." [PMID:25999138]
comment: Myocardial bridging, in which a tunneled segment of the artery under the bridge of overlying myocardium frequently results in vessel compression during systole. While frequently asymptomatic, this condition in many cases may be responsible for adverse complications including angina, myocardial ischemia, acute coronary syndromes, left ventricular dysfunction, arrhythmias, and even sudden cardiac death.
synonym: "Intramyocardial coronary artery course" EXACT []
is_a: HP:0011686 ! Abnormal coronary artery course
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:08:29Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025491
name: Venous stenosis
def: "Narrowing of a vein due to intimal hyperplasia and fibrosis." []
comment: Venous stenosis can be secondary to placement of central venous catheters, pacemaker leads, hemodialysis catheters, prior radiation, trauma, or extrinsic compression by musculoskeletal structures.
is_a: HP:0002624 ! Abnormal venous morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:22:38Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025492
name: Microcoria
def: "A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs." [PMID:25772937]
is_a: HP:0000615 ! Abnormal pupil morphology
is_a: HP:0007700 ! Ocular anterior segment dysgenesis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:32:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025493
name: Palmoplantar erythema
def: "Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin." []
is_a: HP:0010783 ! Erythema
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:34:38Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025494
name: Coated aorta
def: "Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans" [PMID:25017251]
comment: This feature is characteristic of Erdheim Chester disease.
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:37:34Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025495
name: Descending aorta hypoplasia
def: "Significant luminal narrowing of a long segment of the descending aorta." [PMID:12368748, PMID:24516866]
comment: Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta.
is_a: HP:0031934 ! Abnormal descending aorta morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:49:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025496
name: Abnormal coronary artery physiology
def: "Any anomaly of the function of a coronary artery." []
is_a: HP:0025323 ! Abnormal arterial physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:58:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025497
name: Coronary artery spasm
def: "A brief and sudden narrowing of a coronary artery." [PMID:19433770]
comment: Severe chest pain, usually without physical effort and with a concurrent ECG showing transient ST elevation, is the key for the diagnosis of coronary artery spasm.
synonym: "Coronary artery vasospasm" EXACT []
is_a: HP:0025496 ! Abnormal coronary artery physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:58:57Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025498
name: Aceruloplasminemia
def: "Absence of ceruloplasmin in the blood." []
synonym: "Aceruloplasminaemia" EXACT HP:0045076 []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:03:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025499
name: Class I obesity
def: "Obesity with a body mass index of 30 to 34.9 kg per square meter." []
synonym: "Obesity grade 1" EXACT []
is_a: HP:0001513 ! Obesity
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:06:40Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025500
name: Class II obesity
def: "Obesity with a body mass index of 35 to 39.9 kg per square meter." []
synonym: "Obesity grade 2" EXACT []
is_a: HP:0001513 ! Obesity
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:08:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025501
name: Class III obesity
def: "Obesity with a body mass index of 40 kg per square meter or higher." []
synonym: "Obesity grade 3" EXACT []
is_a: HP:0001513 ! Obesity
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:09:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025502
name: Overweight
def: "Increased body weight with a body mass index of 25-29.9 kg per square meter." []
is_a: HP:0004324 ! Increased body weight
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:12:36Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025503
name: Anomalous coronary artery arising from the opposite sinus
def: "Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva." [PMID:27358682, PMID:28374180]
comment: There are three sinus in the wall of the aorta just superior to the aortic semilunar valve. The right coronary artery normally arises from the right sinus of Valsalva (RSV) of the ascending aorta. The left main coronary artery (LMCA) normally arises from the left sinus of Valsava. The third sinus, the right posterior aortic sinus does not normally give rise to a coronary artery.
is_a: HP:0011636 ! Abnormal coronary artery origin
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T22:28:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025505
name: Anomalous origin of the circumflex artery from the right sinus of Valsalva
def: "The circumflex coronary artery originates from the right aortic sinus of Valsalva." [PMID:25104986]
is_a: HP:0011636 ! Abnormal coronary artery origin
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:16:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025506
name: Coronary artery sandwich anomaly
def: "Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels," [PMID:24424336]
comment: Further synonyms include Anomalous origin of the coronary artery from the opposite sinus of Valsalva with an interarterial course and Anomalous origin of the coronary artery from the wrong sinus of Valsalva with a proximal course between the aorta and pulmonary artery
synonym: "Anomalous coronary artery with aortic origin and course between the great arteries" EXACT []
is_a: HP:0025503 ! Anomalous coronary artery arising from the opposite sinus
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:20:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025507
name: Yellow papule
def: "A papule with yellow color." []
comment: The yellow color may be related to lipid accumulation such as xanthomata or sebaceous gland lesions. This term additionally includes lesions described as yellow-orange.
synonym: "Yellow-orange papule" RELATED []
is_a: HP:0200034 ! Papule
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:29:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025508
name: Gottron's papules
def: "Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints." [PMID:28058540]
synonym: "Gottron papules" EXACT []
is_a: HP:0200034 ! Papule
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:39:07Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025509
name: Piezogenic pedal papules
def: "Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum." []
is_a: HP:0200034 ! Papule
property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:43:34Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025510
name: Nevus spilus
def: "A tan, regularly bordered patch with darker macules within the lesion." []
synonym: "Speckled lentiginous Nevus" EXACT []
is_a: HP:0003764 ! Nevus
property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T00:49:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025511
name: Nevus sebaceus
def: "A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood." []
is_a: HP:0003764 ! Nevus
property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T00:51:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025512
name: Skin-colored papule
def: "A papule with the same color as the surrounding skin." [PMID:15686304]
synonym: "Flesh-colored papule" EXACT []
is_a: HP:0200034 ! Papule
property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T01:07:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025513
name: Scleral rupture
def: "Breakage of the sclera." []
comment: Scleral rupture may occur following trauma or may be observed with some types of Ehlers Danlos syndrome and other disorders. The rupture may be hidden by an intact conjunctiva.
is_a: HP:0000591 ! Abnormal sclera morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T01:54:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025514
name: Morning glory anomaly
def: "An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic." []
comment: The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower.
synonym: "Morning glory disc anomaly" EXACT []
synonym: "Morning glory optic disc" EXACT []
is_a: HP:0000587 ! Abnormality of the optic nerve
property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T02:00:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025515
name: Delayed thelarche
def: "Later than normal development of the breasts." []
is_a: HP:0000823 ! Delayed puberty
property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T02:12:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025516
name: Coronary-pulmonary artery fistula
def: "A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery." [PMID:24605242]
is_a: HP:0011641 ! Coronary artery fistula
property_value: http://purl.org/dc/elements/1.1/date 2017-05-16T01:14:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025517
name: Hypoplastic hippocampus
def: "Underdevelopment of the hippocampus." []
synonym: "Small hippocampus" EXACT layperson []
synonym: "Underdeveloped hippocampus" EXACT []
is_a: HP:0025100 ! Abnormal morphology of the hippocampus
property_value: http://purl.org/dc/elements/1.1/date 2017-05-16T22:42:57Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025518
name: Visual gaze preference
def: "An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion." []
comment: With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head manoeuvre) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding.
is_a: HP:0000496 ! Abnormality of eye movement
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T01:15:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025519
name: Multiple biliary hamartomas
def: "Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver." [PMID:22110302]
comment: Multiple biliary hamartomas are part of the wider spectrum of ductal plate malformation where there is congenital malformation of the biliary duct. Multiple biliary hamartomas can be diagnosed using magnetic resonance imaging which shows multiple hyper-intense cystic nodules not communicating with the biliary tree. The diagnosis can be confirmed on liver histology. Multiple biliary hamartomas are usually an incidental finding without symptoms. There have been rare associations with development of cholangiocarcinoma.
synonym: "Biliary hamartoma" RELATED []
synonym: "Multiple bile duct hamartomas" EXACT []
synonym: "Von Meyenburg complexes" EXACT []
is_a: HP:0100574 ! Biliary tract neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T12:34:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025520
name: Calcinosis cutis
def: "Deposition of calcium in the skin." []
comment: The lesions observed incalcinosis cutis are firm papules, plaues, or nodules that have a whitish or yellowish color. Lesions may be solitary but it is more common to observe multiple lesions. The lesions may develop ulceration with a discharge of a chalk-like substance. The lesions can be painful, espcially if they are located on the fingertips. Lesions at other sites may limit joint mobility or stiffen the skin.
synonym: "Cutaneous calcification" EXACT []
is_a: HP:0010766 ! Ectopic calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T22:39:47Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025521
name: Increased body fat percentage
def: "The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males." []
is_a: HP:0001507 ! Growth abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T22:56:46Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025522
name: Elongated chordae tendinae of the mitral valve
def: "Abnormal increased in length of the chordae tendinae of the mitral valve." []
is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:42:26Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025523
name: Abnormal morphology of the chordae tendinae of the mitral valve
def: "A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve." [PMID:23304176]
is_a: HP:0001633 ! Abnormal mitral valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:44:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025524
name: Palmoplantar scaling skin
def: "Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot." []
synonym: "Palmoplantar psoriasis" RELATED []
is_a: HP:0040189 ! Scaling skin
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:50:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025525
name: Scaling skin on fingertip
def: "Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips." []
is_a: HP:0040189 ! Scaling skin
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:53:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025526
name: Psoriasiform lesion
def: "A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus." []
synonym: "Erythemato-squamous plaque" RELATED []
synonym: "Erythematosquamous plaque" RELATED []
synonym: "Psoriatic-like lesion" EXACT []
is_a: HP:0040189 ! Scaling skin
property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:58:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025527
name: Serpiginous cutaneous lesion
def: "A skin lesion with a snake- or serpent-like distribution." []
synonym: "Serpiginous eruption" EXACT []
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:05:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025528
name: Annular cutaneous lesion
def: "A lesion of the skin with a ring-like distribution." []
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:14:03Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025529
name: Hyperpigmented nodule
def: "A nodule of the skin that exhibits an increased amount of pigmentation." []
is_a: HP:0200036 ! Skin nodule
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:19:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025530
name: Xanthomas of the palmar creases
def: "The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." []
synonym: "Xanthoma palmare striatum" EXACT []
synonym: "Xanthoma striatum palmare" EXACT []
is_a: HP:0000991 ! Xanthomatosis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:34:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025531
name: Harlequin phenomenon
def: "The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body." [PMID:21575077]
comment: The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn.
is_a: HP:0011122 ! Abnormality of skin physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:38:26Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025532
name: Positive pathergy test
def: "With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result." []
comment: A positive pathergy test indicates the immune system is overreacting to a minor injury. A positive test result can be seen in Behcet disease and other conditions.
is_a: HP:0011122 ! Abnormality of skin physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:41:57Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025533
name: Peau d'orange
comment: A swelling of the skin in which the skin is tethered by the sweat ducts it contains producing tiny dimples. THe overall appearance is said to resemble the skin (peal) of an orange.
is_a: HP:0000969 ! Edema
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:05:51Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025534
name: Ocular melanocytosis
def: "A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared." []
comment: In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma.
synonym: "Melanosis oculi" EXACT []
synonym: "Ocular melanosis" EXACT []
is_a: HP:0000591 ! Abnormal sclera morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:13:19Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025535
name: Shawl sign
def: "Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back." [PMID:11730311]
comment: This feature may be observed with dermatomyositis and polymyositis.
is_a: HP:0010783 ! Erythema
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:20:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025536
name: V-sign
def: "Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest." [PMID:11730311]
comment: This feature may be observed with dermatomyositis and polymyositis.
is_a: HP:0010783 ! Erythema
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:20:44Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025537
name: Plantar edema
def: "An abnormal accumulation of fluid beneath the skin on sole of the foot." []
is_a: HP:0100872 ! Abnormality of the plantar skin of foot
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:29:36Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025538
name: Palmar edema
def: "An abnormal accumulation of fluid beneath the skin on the palm of the hand." []
is_a: HP:0040211 ! Abnormality of the skin of the palm
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:30:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025539
name: Abnormal B cell subset distribution
is_a: HP:0010975 ! Abnormal B cell count
property_value: http://purl.org/dc/elements/1.1/date 2017-06-12T15:24:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025540
name: Abnormal T cell subset distribution
def: "Any abnormality in the proportion T cells subsets relative to the total number of T cells." []
is_a: HP:0011839 ! Abnormal T cell count
property_value: http://purl.org/dc/elements/1.1/date 2017-06-12T15:27:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025541
name: obsolete Decreased activity of complement receptor
is_obsolete: true
consider: HP:0005339
created_by: HPO:probinson

[Term]
id: HP:0025546
name: Abnormal mean corpuscular hemoglobin concentration
def: "A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced." []
synonym: "Abnormal MCH" EXACT HP:0045077 []
synonym: "Abnormal MCHC" EXACT HP:0045077 []
synonym: "Abnormal mean corpuscular haemoglobin" EXACT HP:0045076 []
synonym: "Abnormal mean corpuscular Hb concentration" EXACT HP:0045077 []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:25:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025547
name: Decreased mean corpuscular hemoglobin concentration
def: "A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced." []
synonym: "Decreased MCH" EXACT HP:0045077 []
synonym: "Decreased MCHC" EXACT HP:0045077 []
synonym: "Decreased mean corpuscular haemoglobin" EXACT HP:0045076 []
synonym: "Decreased mean corpuscular Hb concentration" EXACT HP:0045077 []
is_a: HP:0025546 ! Abnormal mean corpuscular hemoglobin concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:28:40Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025548
name: Increased mean corpuscular hemoglobin concentration
def: "An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell)." []
synonym: "Increased MCH" EXACT HP:0045077 []
synonym: "Increased MCHC" EXACT HP:0045077 []
synonym: "Increased mean corpuscular haemoglobin" EXACT HP:0045076 []
synonym: "Increased mean corpuscular Hb concentration" EXACT HP:0045077 []
is_a: HP:0025546 ! Abnormal mean corpuscular hemoglobin concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:29:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025549
name: Eccentric visual fixation
def: "A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees." [ORCID:0000-0003-0986-4123]
comment: A anomaly in which a part of the retina other than the fovea is used for visual fixation. The fovea usually retains its straight ahead orientation. Eccentric fixation may be present under conditions of viewing with one or both eyes. However, it is more easily diagnosed monocularly (especially if the better eye is covered).
synonym: "Eccentric fixation" EXACT []
is_a: HP:0025404 ! Abnormal visual fixation
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:48:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025550
name: Elevated circulating ribitol concentration
def: "An increase above the normal concentration of ribitol in the blood." []
synonym: "Increased level of ribitol in serum" EXACT []
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:01:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025551
name: Optic nerve misrouting
def: "Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp)." []
synonym: "Optic pathway misrouting" EXACT []
synonym: "Visual pathway misrouting" EXACT []
is_a: HP:0000587 ! Abnormality of the optic nerve
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:10:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025552
name: Periorbital purpura
def: "Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding." []
is_a: HP:0000606 ! Abnormality of the periorbital region
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:14:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025553
name: Periorbital ecchymosis with tarsal plate sparing
def: "Subcutaneous bleeding with a diamter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate." [PMID:20411091]
synonym: "Raccoon eyes" EXACT layperson []
is_a: HP:0000606 ! Abnormality of the periorbital region
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:16:35Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025554
name: Yellow nodule
def: "A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion)." [PMID:22223978]
is_a: HP:0200036 ! Skin nodule
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:41:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025555
name: Periungual teleangiectasia
def: "Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails." []
is_a: HP:0100585 ! Telangiectasia of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:50:16Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025558
name: Lamellar cataract with riders
def: "Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens." [ORCID:0000-0003-0986-4123]
is_a: HP:0007971 ! Lamellar cataract
property_value: http://purl.org/dc/elements/1.1/date 2017-12-13T12:54:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025559
name: Coronary cataract
def: "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown." [ORCID:0000-0003-0986-4123]
is_a: HP:0010920 ! Zonular cataract
property_value: http://purl.org/dc/elements/1.1/date 2017-12-13T13:04:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025560
name: Anterior chamber cells
def: "Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [ORCID:0000-0003-0986-4123, PMID:16196117]
is_a: HP:0000593 ! Abnormal anterior chamber morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:00:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025561
name: Anterior chamber cells grade 1+
def: "Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117]
is_a: HP:0025560 ! Anterior chamber cells
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:15:06Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025562
name: Anterior chamber cells grade 0.5+
def: "Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117]
is_a: HP:0025560 ! Anterior chamber cells
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:17:41Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025563
name: Anterior chamber cells grade 0
def: "Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117]
is_a: HP:0025560 ! Anterior chamber cells
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:19:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025564
name: Anterior chamber cells grade 2+
def: "Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117]
is_a: HP:0025560 ! Anterior chamber cells
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:21:53Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025565
name: Anterior chamber cells grade 3+
def: "Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." []
is_a: HP:0025560 ! Anterior chamber cells
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:23:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025566
name: Anterior chamber cells grade 4+
def: "Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117]
is_a: HP:0025560 ! Anterior chamber cells
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:24:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025567
name: Central serous chorioretinopathy
def: "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months." [PMID:17662099]
comment: The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously.
is_a: HP:0000532 ! Abnormal chorioretinal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:33:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025568
name: Abnormal morphology of the choroidal vasculature
is_a: HP:0000610 ! Abnormal choroid morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:37:50Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025569
name: Polypoidal choroidal vasculopathy
def: "The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization." [PMID:24653824]
comment: The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation.
is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:39:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025570
name: Choroidal vascular hyperpermeability
def: "Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA)." [PMID:25709392]
synonym: "Choroidal hyperpermeability" EXACT []
is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:49:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025571
name: Christmas tree cataract
def: "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree." [PMID:27190856]
is_a: HP:0000518 ! Cataract
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:58:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025572
name: Punctal stenosis
def: "Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded." [PMID:22848141]
comment: Epiphora is a common complaint encountered by ophthalmologists, with a broad differential diagnosis. One of the least discussed etiologies of epiphora is stenosis of the external lacrimal punctum. When it occurs, the most common presenting symptom is tearing, but patients may have vague complaints of ocular discomfort.
synonym: "Lacrimal punctum stenosis" EXACT []
synonym: "Stenosis of the lacrimal punctum" EXACT []
is_a: HP:0011479 ! Abnormal lacrimal punctum morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T14:21:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025573
name: Mild myopia
def: "A mild form of myopia with up to -3.00 diopters." [ORCID:0000-0003-0986-4123]
is_a: HP:0000545 ! Myopia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T14:38:05Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025574
name: Macular hemorrhage
synonym: "Bleeding occurring within the macula lutea of the retina." EXACT []
synonym: "Macular haemorrhage" EXACT HP:0045076 []
is_a: HP:0000573 ! Retinal hemorrhage
is_a: HP:0001103 ! Abnormal macular morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T14:47:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025575
name: Abnormal superior vena cava morphology
def: "Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart." [MP:0006064]
xref: Fyler:2820
is_a: HP:0005345 ! Abnormal vena cava morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:00:56Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025576
name: Abnormal inferior vena cava morphology
def: "Any structural anomaly of the principal vein draining blood from the lower portion of the body." [MP:0006063]
xref: Fyler:2810
is_a: HP:0005345 ! Abnormal vena cava morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:02:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025578
name: Aortic valve prolapse
def: "Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus." [PMID:4015927]
xref: Fyler:1452
is_a: HP:0001646 ! Abnormal aortic valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:47:17Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025579
name: Abnormal left atrium morphology
def: "Any structural abnormality of the left atrium." []
xref: Fyler:3010
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:54:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025580
name: Abnormal right atrium morphology
def: "Any structural abnormality of the right atrium." []
xref: Fyler:1770
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:56:01Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025581
name: Foveal hemorrhage
def: "Bleeding occurring within the fovea." [ORCID:0000-0003-0986-4123]
synonym: "Foveal haemorrhage" EXACT HP:0045076 []
is_a: HP:0025574 ! Macular hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:21:30Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025582
name: Submacular hemorrhage
def: "Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [ORCID:0000-0003-0986-4123, PMID:23202390]
synonym: "Sub-macular hemorrhage" EXACT []
synonym: "Submacular haemorrhage" EXACT HP:0045076 []
is_a: HP:0025243 ! Subretinal hemorrhage
is_a: HP:0025574 ! Macular hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:25:19Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025583
name: Tapetal-like fundal reflex
def: "Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals." []
comment: This appearance is typically seen in female carriers of X-linked RP associated mutations.
is_a: HP:0001098 ! Abnormal fundus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:32:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025584
name: Hypotropia
def: "A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open." [ORCID:0000-0003-0986-4123]
is_a: HP:0025588 ! Hypodeviation
is_a: HP:0032012 ! Heterotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:39:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025585
name: Hyperphoria
def: "Tendency for the visual axis of one eye to be higher than that of the other." [ORCID:0000-0003-0986-4123]
is_a: HP:0025587 ! Hyperdeviation
is_a: HP:0032011 ! Heterophoria
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:42:23Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025586
name: Hypertropia
def: "A type of strabismus characterized by permanent upward deviation of the visual axis of one eye." [ORCID:0000-0003-0986-4123]
is_a: HP:0025587 ! Hyperdeviation
is_a: HP:0032012 ! Heterotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:44:01Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025587
name: Hyperdeviation
def: "A type of strabismus in which the visual axis of one eye is higher than that of the other." [ORCID:0000-0003-0986-4123]
comment: Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions.
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:45:45Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025588
name: Hypodeviation
def: "A type of strabismus in which the visual axis of one eye is lower than that of the other." [ORCID:0000-0003-0986-4123]
comment: Hypophoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypotropia is a manifest deviation in which the eyes are not aligned under binocular conditions.
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:50:55Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025589
name: Cyclodeviation
def: "Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes." [ORCID:0000-0003-0986-4123, PMID:15731772]
comment: Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern.
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:57:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025590
name: Abnormal extraocular muscle physiology
def: "A functional anomaly of the muscles of the eye." []
is_a: HP:0012373 ! Abnormal eye physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:11:20Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025591
name: Abnormal superior oblique muscle physiology
def: "A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve." [ORCID:0000-0003-0986-4123]
comment: A neurological examination includes assessment of the trochlear nerve (CN IV) which innervates the superior oblique muscle. The test for CN IV function is for the patient to depress and adduct the eye (ie. to look down and in). This movement is impaired in the presence of a trochlear nerve palsy.
is_a: HP:0031739 ! Abnormal oblique muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:12:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025592
name: Superior oblique muscle weakness
def: "Decreased strength of the superior oblique muscle." []
synonym: "Superior oblique palsy" EXACT []
is_a: HP:0025591 ! Abnormal superior oblique muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:17:49Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025593
name: Superior oblique muscle restriction
def: "Mechanical limitation of the range of movement of the superior oblique muscle." [ORCID:0000-0003-0986-4123]
comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively.
is_a: HP:0025592 ! Superior oblique muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:38:29Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025594
name: Superior oblique muscle overaction
def: "An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye." [ORCID:0000-0003-0986-4123, PMID:11545636]
is_a: HP:0025591 ! Abnormal superior oblique muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:41:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025595
name: Superior oblique muscle underaction
def: "Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123]
synonym: "Under-depression in adduction" EXACT []
is_a: HP:0025592 ! Superior oblique muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:46:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025596
name: Abnormal inferior oblique muscle physiology
def: "A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve." [ORCID:0000-0003-0986-4123]
comment: The major functions of the inferior oblique muscle are extorsion (external rotation), elevation, and abduction.
is_a: HP:0031739 ! Abnormal oblique muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:54:37Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025597
name: Inferior oblique muscle restriction
def: "Mechanical limitation of the range of movement of the inferior oblique muscle." [ORCID:0000-0003-0986-4123]
comment: In contrast to deficits produces by primary muscle weakness, extraocular muscle restriction cannot move passively any more than actively.
is_a: HP:0025598 ! Inferior oblique muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:15:59Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025598
name: Inferior oblique muscle weakness
def: "Decreased strength of the inferior oblique muscle." [ORCID:0000-0003-0986-4123]
synonym: "Inferior oblique palsy" EXACT []
is_a: HP:0025596 ! Abnormal inferior oblique muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:23:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025599
name: Inferior oblique muscle overaction
def: "A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye." [ORCID:0000-0003-0986-4123, PMID:11545636]
is_a: HP:0025596 ! Abnormal inferior oblique muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:25:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025600
name: Abnormal inferior rectus muscle physiology
def: "A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye." [ORCID:0000-0003-0986-4123]
is_a: HP:0031748 ! Abnormal vertical rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:31:55Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025601
name: Inferior rectus muscle weakness
def: "Decreased strength of the inferior rectus muscle." [ORCID:0000-0003-0986-4123]
is_a: HP:0025600 ! Abnormal inferior rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:23:13Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025602
name: Inferior rectus muscle restriction
def: "Mechanical limitation of the range of movement of the inferior rectus muscle." [ORCID:0000-0003-0986-4123]
comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively.
is_a: HP:0025601 ! Inferior rectus muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:24:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025603
name: Abnormal superior rectus muscle physiology
def: "A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe." [ORCID:0000-0003-0986-4123]
is_a: HP:0031748 ! Abnormal vertical rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:28:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025604
name: Orbital schwannoma
def: "A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit." []
is_a: HP:0100012 ! Neoplasm of the eye
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:31:31Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025605
name: Lid lag on downgaze
def: "Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign." [ORCID:0000-0003-0986-4123]
synonym: "Eyelid lag" EXACT []
synonym: "Lid lag" EXACT []
synonym: "von Graefe sign" RELATED []
is_a: HP:0031785 ! Abnormal eyelid movement
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:37:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025606
name: Abnormal medial rectus muscle physiology
def: "A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball." [ORCID:0000-0003-0986-4123]
is_a: HP:0031740 ! Abnormal horizontal rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:41:09Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025607
name: Upper eyelid entropion
def: "An inward turning (inversion) of the margin of the upper eyelid." [ORCID:0000-0003-0986-4123]
is_a: HP:0000621 ! Entropion
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:44:13Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025608
name: Cicatricial ectropion
def: "An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring." [ORCID:0000-0003-0986-4123]
comment: Cicatricial ectropion may occur owing to burns, lacerations, or infection of the skin of the eyelid.
is_a: HP:0000656 ! Ectropion
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:49:08Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025609
name: Anterior blepharitis
def: "A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles." [ORCID:0000-0003-0986-4123]
is_a: HP:0000498 ! Blepharitis
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:52:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025610
name: Posterior blepharitis
def: "A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia." [ORCID:0000-0003-0986-4123]
synonym: "Meibomian gland disease" RELATED []
synonym: "Meibomian gland dysfunction" EXACT []
is_a: HP:0000498 ! Blepharitis
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:53:43Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025611
name: Epicanthus superciliaris
def: "A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye)." [ORCID:0000-0003-0986-4123]
is_a: HP:0000286 ! Epicanthus
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:58:02Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025612
name: Corneal astigmatism
def: "A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea." [ORCID:0000-0003-0986-4123]
is_a: HP:0000483 ! Astigmatism
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T23:06:10Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025613
name: Focal emotional seizure
def: "A type of focal-onset seizure characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer." [PMID:28276062, PMID:28276064]
is_a: HP:0007359 ! Focal-onset seizure
property_value: http://purl.org/dc/elements/1.1/date 2018-10-07T16:18:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025615
name: Abscess
is_a: HP:0032251 ! Abnormal immune system morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T22:41:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025616
name: Sterile abscess
def: "An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms." []
is_a: HP:0025615 ! Abscess
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T22:44:34Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025617
name: Abnormal plasma cell count
def: "An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies." []
is_a: HP:0002846 ! Abnormal B cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T23:51:27Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025618
name: Reduced plasma cell count
def: "An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies." []
is_a: HP:0025617 ! Abnormal plasma cell count
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T23:52:54Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025619
name: Elevated plasma cell count
def: "An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies." []
is_a: HP:0025617 ! Abnormal plasma cell count
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T23:53:33Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025620
name: Abnormal proportion of CD4+ central memory cells
def: "An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype." []
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T23:55:32Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025621
name: Elevated proportion of CD4+ central memory cells
def: "An abnormally increased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype." []
is_a: HP:0025620 ! Abnormal proportion of CD4+ central memory cells
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:10:11Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025622
name: Reduced proportion of CD4+ central memory cells
def: "An abnormally decreased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype." []
is_a: HP:0025620 ! Abnormal proportion of CD4+ central memory cells
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:10:19Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025623
name: Abnormal proportion of CD4+ effector memory cells
def: "An abnormal proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype." []
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:11:24Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025624
name: Reduced proportion of CD4+ effector memory T cells
def: "An abnormally decreased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype." []
is_a: HP:0025623 ! Abnormal proportion of CD4+ effector memory cells
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:13:00Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025625
name: Elevated proportion of CD4+ effector memory T cells
def: "An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype." []
is_a: HP:0025623 ! Abnormal proportion of CD4+ effector memory cells
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:13:18Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025626
name: Increased circulating oleate level
def: "An abnormally high concentration of oleic acid (oleate) in the blood circulation." [PMID:18772370, UCDenver:tjcallahan]
is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:25:28Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025627
name: Increased circulating octadecanoate level
def: "An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid)." []
is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:28:58Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025628
name: Increased circulating myristoleate level
def: "An abnormally high concentration of myristoleate in the blood circulation." []
is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:31:41Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025629
name: Anti-myelin-associated glycoprotein antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG)." [PMID:16969155]
comment: The anti-myelin-associated glycoprotein (MAG) neuropathy is an antibody-mediated demyelinating neuropathy. The clinical picture is characterized by a distal and symmetric, mostly sensory neuropathy. Monoclonal immunoglobulin M anti-MAG antibodies are uniquely found in this condition and are believed to be pathogenic.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:48:21Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025630
name: Argininosuccinic aciduria
def: "Increased amount of argininosuccinate in the urine." [PMID:30158522, UCDenver:tjcallahan]
comment: rgininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment.
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:55:15Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025631
name: Alpha-aminobutyric aciduria
def: "Increased amount of alpha-aminobutyric acid in the urine." [UCDenver:tjcallahan]
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T01:21:25Z xsd:dateTime
created_by: HPO:probinson

[Term]
id: HP:0025632
name: Reduced reactive oxygen species production in neutrophils
comment: Polymorphonuclear neutrophils comprise more than 60% ofthe circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2).
is_a: HP:0025463 ! Abnormality of redox activity
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T01:36:43Z xsd:dateTime
property_value: http://purl.org/dc/elements/1.1/description "An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst." xsd:string {xref="PMID:27558335"}
created_by: HPO:probinson

[Term]
id: HP:0030000
name: EMG: repetitive nerve stimulation abnormality
def: "Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz." [UToronto:HTrang]
xref: UMLS:C4022681
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0030001
name: Lagopthalmos
def: "A condition in which the eyelids do not close to cover the eye completely." []
comment: Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function.
synonym: "Eyelids stay open" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Inability to close the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: pmid:20590416
xref: UMLS:C4022680
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0030002
name: Nocturnal lagophthalmos
def: "The inability to close the eyelids during sleep." []
comment: Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies.
synonym: "Eyelids stay open at night" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Inability to close the eyelids at night" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: pmid:16671223
xref: SNOMEDCT_US:417740005
xref: UMLS:C1563118
is_a: HP:0030001 ! Lagopthalmos

[Term]
id: HP:0030003
name: Paralytic lagophthalmos
def: "A type of lagophthalmos that occurs in association with facial nerve palsy." []
comment: Patients with facial nerve palsy have a characteristic facial asymmetry and drooping of the angle of mouth. The temporal and zygomatic branches of facial nerve supply the forehead and eyelid muscles. Their involvement in a disease leads to paralysis of orbicularis oculi muscle resulting in lagophthalmos and ectropion.
xref: pmid:24618488
xref: SNOMEDCT_US:59890007
xref: UMLS:C0155197
is_a: HP:0030001 ! Lagopthalmos

[Term]
id: HP:0030004
name: Cicatricial lagophthalmos
def: "A type of lagophthalmos that occurs following trauma or surgery." []
synonym: "Eyelids stay open due to scarring" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Inability to close the eyelids due to scarring" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:9042000
xref: UMLS:C0155199
is_a: HP:0030001 ! Lagopthalmos

[Term]
id: HP:0030005
name: Capillary leak
def: "An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes." []
synonym: "Increased capillary permeability" EXACT []
synonym: "Systemic capillary leak syndrome" RELATED []
xref: MSH:D019559
xref: pmid:24467750
xref: pmid:24808988
xref: SNOMEDCT_US:1608005
xref: SNOMEDCT_US:87730004
xref: UMLS:C0343084
xref: UMLS:C1382398
is_a: HP:0025018 ! Abnormal capillary physiology

[Term]
id: HP:0030006
name: Single fiber EMG abnormality
def: "Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers." [HPO:probinson, pmid:21654930]
xref: UMLS:C4022679
is_a: HP:0003457 ! EMG abnormality

[Term]
id: HP:0030007
name: EMG: positive sharp waves
def: "These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform." []
xref: pmid:15961866
xref: SNOMEDCT_US:251527008
xref: UMLS:C0429349
is_a: HP:0003482 ! EMG: axonal abnormality

[Term]
id: HP:0030008
name: Cervical agenesis
def: "Congenital absence of the cervix." []
synonym: "Absent cervix" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the cervix" EXACT []
synonym: "Cervical aplasia" EXACT []
xref: SNOMEDCT_US:37687000
xref: UMLS:C0266404
is_a: HP:0012888 ! Abnormality of the uterine cervix

[Term]
id: HP:0030009
name: Cervical insufficiency
def: "A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent" []
comment: One of the known risk factors for preterm birth is cervical insufficiency.
synonym: "Incompetent cervix" EXACT []
xref: MSH:D002581
xref: pmid:17490914
xref: pmid:20643692
xref: SNOMEDCT_US:17382005
xref: UMLS:C0007871
is_a: HP:0012888 ! Abnormality of the uterine cervix

[Term]
id: HP:0030010
name: Hydrometrocolpos
def: "Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina." []
comment: Usually hydrometrocolpos manifests at puberty caused by an obstruction of the female genital tract.The most frequent cause of hydrometrocolpos is the presence of imperforate hymen due to failure of partial resorption of this membrane during the embryonic development.
xref: pmid:24046799
xref: SNOMEDCT_US:60023006
xref: UMLS:C0269209
is_a: HP:0000142 ! Abnormal vagina morphology

[Term]
id: HP:0030011
name: Imperforate hymen
def: "A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina." []
comment: Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen.
xref: MSH:C562397
xref: pmid:24822139
xref: SNOMEDCT_US:65937002
xref: UMLS:C0152436
is_a: HP:0000142 ! Abnormal vagina morphology

[Term]
id: HP:0030012
name: Abnormal female reproductive system physiology
synonym: "Abnormal female genital system physiology" RELATED layperson []
synonym: "Abnormal female reproductive system physiology" EXACT layperson []
xref: UMLS:C4020714
xref: UMLS:C4022678
is_a: HP:0000080 ! Abnormality of reproductive system physiology

[Term]
id: HP:0030013
name: obsolete Endometriosis
is_obsolete: true
replaced_by: HP:0030127

[Term]
id: HP:0030014
name: Female sexual dysfunction
xref: UMLS:C1112442
is_a: HP:0030012 ! Abnormal female reproductive system physiology

[Term]
id: HP:0030015
name: Female anorgasmia
def: "The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal." []
synonym: "Female orgasmic disorder" BROAD layperson []
xref: pmid:16391543
xref: SNOMEDCT_US:60103007
xref: UMLS:C0033948
xref: UMLS:C4022677
is_a: HP:0030014 ! Female sexual dysfunction

[Term]
id: HP:0030016
name: Dyspareunia
def: "Recurrent or persistent genital pain associated with sexual intercourse." []
comment: Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two.
xref: MSH:D004414
xref: pmid:16391543
xref: SNOMEDCT_US:71315007
xref: UMLS:C1384606
is_a: HP:0030014 ! Female sexual dysfunction

[Term]
id: HP:0030017
name: Vaginismus
def: "Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress." []
comment: Vaginismus usually develops as a conditioned response to painful penetration, or secondary to psychological/emotional factors.
xref: MSH:D052065
xref: pmid:16391543
xref: SNOMEDCT_US:79012001
xref: UMLS:C2004487
is_a: HP:0030014 ! Female sexual dysfunction

[Term]
id: HP:0030018
name: Decreased female libido
def: "Dminished sexual desire in female." []
synonym: "Decreased female sex drive" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022676
is_a: HP:0030014 ! Female sexual dysfunction
is_a: HP:0031845 ! Abnormal libido

[Term]
id: HP:0030019
name: Increased female libido
def: "Elevated sexual desire in female" []
synonym: "Increased female sex drive" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022675
is_a: HP:0030014 ! Female sexual dysfunction
is_a: HP:0031845 ! Abnormal libido

[Term]
id: HP:0030021
name: Auricular tag
def: "Small protrusion within the pinna." [eom:1b6d89bad30b8f18, pmid:19152421]
comment: The tag can be located on either side of the pinna.
xref: UMLS:C4022674
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0030022
name: Question mark ear
def: "Cleft between the helix and the lobe." [eom:cffbc3de49dbb172, pmid:19152421]
comment: Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix.
synonym: "Constricted ear" EXACT []
synonym: "Cosman ear" EXACT []
synonym: "Question mark ear" EXACT layperson []
synonym: "Question mark ears" EXACT layperson [HPO:skoehler]
xref: UMLS:C3888103
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0030023
name: Quelprud nodule
def: "Small cartilaginous prominence on the posterior concha." [eom:193d1645eb4eced8, pmid:19152421]
comment: This feature is best visualized when the earlobe is tilted anteriorly.
xref: UMLS:C4022673
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0030024
name: Pretragal ectopia
def: "Variably shaped, cartilage-containing tissue anterior to the external auditory meatus." [eom:095679c21044c851]
comment: Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia.
synonym: "Accessory Tragus" RELATED []
synonym: "Extra cartilage in front of the ear" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Pretragal Duplication" RELATED []
xref: SNOMEDCT_US:204245004
xref: UMLS:C0266609
is_a: HP:0000383 ! Abnormality of periauricular region

[Term]
id: HP:0030025
name: Auricular pit
def: "Small indentation in the lower part of the ascending helix, concha, or in the crus helix." [eom:1fe5d46deac24493, pmid:19152421]
comment: The location of the pits is the plane of fusion of the first branchial cleft.
xref: UMLS:C4022672
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0030026
name: Squared superior portion of helix
def: "Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual." [eom:ddce48fcd9ee46f4, pmid:19152421]
comment: This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix.
xref: UMLS:C4022671
is_a: HP:0011039 ! Abnormality of the helix

[Term]
id: HP:0030027
name: Abnormality of the nasal cartilage
def: "A morphological anomaly of the nasal cartilage." []
synonym: "Abnormality of cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the nasal cartilage" EXACT layperson []
synonym: "Anomaly of cartilage of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of nasal cartilage" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of cartilage of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of nasal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of cartilage of nose" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of nasal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022670
is_a: HP:0010938 ! Abnormality of the external nose

[Term]
id: HP:0030028
name: Absent nasal cartilage
def: "Lack of a palpable nasal cartilage." [eom:73e4e8bb2eec316d, pmid:19152422]
comment: This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately.
synonym: "Absent cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Absent nasal cartilage" EXACT layperson []
synonym: "Agenesis of cartilage of nose" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of nasal cartilage" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of nasal cartilage" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing nasal cartilage" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:C562753
xref: SNOMEDCT_US:232381002
xref: UMLS:C4022669
xref: UMLS:C4082198
is_a: HP:0030027 ! Abnormality of the nasal cartilage

[Term]
id: HP:0030029
name: Splayed fingers
def: "Divergence of digits along the A/P axis (in the plane of the palm)." [eom:ebc67f029da3caac, pmid:19125433]
comment: This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified.
synonym: "Splayed fingers" EXACT layperson []
synonym: "Spreading of the fingers" EXACT layperson []
xref: UMLS:C4021057
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0030030
name: Absent ray
def: "The absence of all phalanges of a digit and the associated metacarpal /metatarsal." [eom:603438e0616f4f69, pmid:19125433]
comment: This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not.
xref: UMLS:C4022668
is_a: HP:0002813 ! Abnormality of limb bone morphology

[Term]
id: HP:0030031
name: Small toe
def: "Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual." [eom:4d06c726e63758c5, pmid:19125433]
comment: This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered.
synonym: "Small toe" EXACT layperson []
xref: UMLS:C4022667
is_a: HP:0001991 ! Aplasia/Hypoplasia of toe

[Term]
id: HP:0030032
name: Partial absence of foot
def: "An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals." [eom:6a2c173d3d7e3219, pmid:19125433]
synonym: "Partial absence of foot" EXACT layperson []
xref: UMLS:C4022666
is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet

[Term]
id: HP:0030033
name: Small finger
def: "Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual." [eom:5b823be1388221a1, pmid:19125433]
comment: This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5.
synonym: "Small finger" EXACT layperson []
xref: SNOMEDCT_US:299058009
xref: UMLS:C0575827
is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers

[Term]
id: HP:0030034
name: Diffuse glomerular basement membrane lamellation
def: "Presence of abnormal additional layers of the basement membrane of the glomerulus." []
synonym: "Diffuse lamellation of the glomerular basement membrane" EXACT []
xref: pmid:10199473
xref: pmid:12089752
xref: UMLS:C3278307
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology

[Term]
id: HP:0030035
name: Struvite nephrolithiasis
def: "Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones)." []
synonym: "Struvite kidney stones" EXACT []
xref: UMLS:C4021056
is_a: HP:0000787 ! Nephrolithiasis

[Term]
id: HP:0030036
name: Isothenuria
def: "Inability of the kidneys to produce either concentrated or dilute urine." []
comment: Isothenuria is seen in the final stages of renal failure. It reflects rapid flushing of fluid through the tubules in renal failure as the number of functioning nephrons decreases; the normal concentrating (particularly) and diluting mechanisms of the kidney do not have time to function. The consequence is that the specific gravity of the urine becomes approximately the same as that of the glomerular filtrate.
xref: UMLS:C4022665
is_a: HP:0012211 ! Abnormal renal physiology

[Term]
id: HP:0030037
name: Bifid ureter
def: "Incomplete duplication of the ureter." []
xref: pmid:23513084
xref: UMLS:C3887498
is_a: HP:0000073 ! Ureteral duplication

[Term]
id: HP:0030038
name: Enchondroma
def: "A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus." []
comment: Most patients have no symptoms. Enchondromas are often identified as incidental findings on X-ray examinations. Enchondromas usually have a radiographic appearance that is long and oval with well-defined margins.
xref: MSH:D002812
xref: SNOMEDCT_US:31186001
xref: SNOMEDCT_US:423699002
xref: UMLS:C1704356
is_a: HP:0010622 ! Neoplasm of the skeletal system

[Term]
id: HP:0030039
name: Fused thoracic vertebrae
def: "A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another." []
xref: UMLS:C4022664
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0030040
name: Fused lumbar vertebrae
def: "A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another." []
xref: UMLS:C4022663
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0030041
name: Schmorl's node
def: "A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra." []
comment: Schmorl's nodes (SN) are common findings on imaging, and although most SNs are asymptomatic, some have been shown to become painful lesions.
synonym: "Schmorl's nodes" EXACT [HPO:skoehler]
xref: pmid:22544358
xref: SNOMEDCT_US:45181002
xref: UMLS:C0410632
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0030042
name: Incomplete ossification of pubis
def: "Failure to complete ossification (maturation and calcification) of the pubic bone." []
synonym: "Incomplete maturation of the public bone" RELATED layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:373940002
xref: UMLS:C0685678
is_a: HP:0009105 ! Abnormal ossification of the pubic bone

[Term]
id: HP:0030043
name: Hip subluxation
def: "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket." []
synonym: "Partial hip dislocation" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Subluxation involving the hip joint" EXACT []
xref: SNOMEDCT_US:263057000
xref: UMLS:C0434785
is_a: HP:0001384 ! Abnormality of the hip joint

[Term]
id: HP:0030044
name: Flexion contracture of digit
def: "A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." []
xref: UMLS:C1839864
is_a: HP:0001371 ! Flexion contracture

[Term]
id: HP:0030045
name: Serpentine fibula
def: "Elongated curved (S-shaped) fibulae." []
synonym: "S-shaped calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: pmid:21712856
xref: pmid:3409932
xref: UMLS:C3805325
is_a: HP:0002991 ! Abnormality of fibula morphology

[Term]
id: HP:0030046
name: Hypoglycosylation of alpha-dystroglycan
def: "A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue." []
comment: Alpha-dystroglycan is a component of the Dystrophin Associated Protein complex (DAP) which binds to various ligands in the extracellular matrix of muscle and other tissues, including laminin-alpha2, perlecan, neurexin and agrin. Disruption of the interaction between alpha-dystroglycan and its ligands has severe consequences for muscle and brain function and structure. The pathological hallmark is reduced immunolabeling of skeletal muscle with antibodies recognizing glycosylated epitopes on alpha-dystroglycan.
xref: pmid:18691338
xref: UMLS:C4015098
is_a: HP:0030112 ! Abnormal muscle fiber alpha dystroglycan

[Term]
id: HP:0030047
name: Abnormality of lateral ventricle
def: "A morphological anomaly of the lateral ventricle." []
comment: There are two lateral ventricles, one on each side of the brain. The lateral ventricle resembles a C-shaped structure that begins at an inferior horn in the temporal lobe, travels through a body in the parietal lobe and frontal lobe, and ultimately terminates at the interventricular foramen of Monro where each lateral ventricle connects to the central third ventricle.
xref: UMLS:C4022662
is_a: HP:0002118 ! Abnormality of the cerebral ventricles

[Term]
id: HP:0030048
name: Colpocephaly
def: "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles." []
xref: MSH:C535973
xref: pmid:4058748
xref: SNOMEDCT_US:253160006
xref: UMLS:C0431384
is_a: HP:0030047 ! Abnormality of lateral ventricle

[Term]
id: HP:0030049
name: Brain abscess
def: "A collection of pus, immune cells, and other material in the brain." []
comment: Brain abscess usually results from a bacterial or fungal infection.
synonym: "Brain abscess" EXACT layperson []
xref: MSH:D001922
xref: SNOMEDCT_US:441806004
xref: UMLS:C0006105
is_a: HP:0011450 ! Unusual CNS infection
is_a: HP:0025615 ! Abscess

[Term]
id: HP:0030050
name: Narcolepsy
def: "An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis." []
comment: There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy.
xref: MSH:D009290
xref: pmid:21931493
xref: SNOMEDCT_US:60380001
xref: UMLS:C0027404
is_a: HP:0002360 ! Sleep disturbance

[Term]
id: HP:0030051
name: Tip-toe gait
alt_id: HP:0002394
def: "An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait." [pmid:24757457]
comment: Heel-to-toe gait is normally achieved in children around three years of age, after which tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases.
synonym: "Walking on tiptoes" EXACT layperson []
xref: UMLS:C1843570
is_a: HP:0001288 ! Gait disturbance

[Term]
id: HP:0030052
name: Inguinal freckling
def: "The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." []
synonym: "Freckles in groin region" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1834297
is_a: HP:0001480 ! Freckling

[Term]
id: HP:0030053
name: Stiff skin
def: "An induration (hardening) of the skin" []
synonym: "Indurated skin" EXACT []
synonym: "Stiff skin" EXACT layperson []
xref: UMLS:C3276815
is_a: HP:0011121 ! Abnormality of skin morphology

[Term]
id: HP:0030054
name: Perifollicular fibrosis
def: "Presence of excess fibrous connective tissue surrounding hair follicules." []
xref: UMLS:C2748531
is_a: HP:0031285 ! Abnormal perifollicular morphology

[Term]
id: HP:0030055
name: Hyperconvex toenail
def: "When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity." []
xref: UMLS:C4022661
is_a: HP:0001795 ! Hyperconvex nail

[Term]
id: HP:0030056
name: Uncombable hair
def: "Hair that is disorderly, stands out from the scalp, and cannot be combed flat." []
synonym: "Uncombable hair" EXACT layperson []
xref: UMLS:C1860607
is_a: HP:0010719 ! Abnormality of hair texture

[Term]
id: HP:0030057
name: Autoimmune antibody positivity
def: "The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues." []
xref: UMLS:C4022660
is_a: HP:0002960 ! Autoimmunity

[Term]
id: HP:0030058
name: Sickled erythrocytes
def: "An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains)." []
xref: UMLS:C2237347
is_a: HP:0004447 ! Poikilocytosis

[Term]
id: HP:0030059
name: Mitochondrial depletion
def: "An abnormal reduction in mitochondrial DNA content of cells." [pmid:23385875]
xref: UMLS:C4022659
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism

[Term]
id: HP:0030060
name: Nervous tissue neoplasm
def: "A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system)." []
xref: MSH:D009380
xref: UMLS:C0027665
is_a: HP:0011792 ! Neoplasm by histology

[Term]
id: HP:0030061
name: Neuroectodermal neoplasm
def: "A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells." []
xref: MSH:D017599
xref: SNOMEDCT_US:253096008
xref: SNOMEDCT_US:73676002
xref: UMLS:C0206093
is_a: HP:0030060 ! Nervous tissue neoplasm

[Term]
id: HP:0030062
name: Craniopharyngioma
def: "A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system." [pmid:17425791]
comment: Patients may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, since the tumor may compress the optic chiasm.
xref: MSH:D003397
xref: SNOMEDCT_US:189179009
xref: SNOMEDCT_US:40009002
xref: UMLS:C0010276
is_a: HP:0030061 ! Neuroectodermal neoplasm

[Term]
id: HP:0030063
name: Neuroepithelial neoplasm
def: "A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium." []
xref: MSH:D018302
xref: UMLS:C0206715
is_a: HP:0030061 ! Neuroectodermal neoplasm

[Term]
id: HP:0030064
name: Neurocytoma
def: "A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles." []
comment: Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles.
xref: MSH:D018306
xref: SNOMEDCT_US:128858006
xref: UMLS:C1622510
is_a: HP:0030063 ! Neuroepithelial neoplasm

[Term]
id: HP:0030065
name: Primitive neuroectodermal tumor
def: "A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation." []
xref: MSH:D018242
xref: SNOMEDCT_US:39781001
xref: SNOMEDCT_US:55045006
xref: SNOMEDCT_US:699028006
xref: UMLS:C0206663
is_a: HP:0030063 ! Neuroepithelial neoplasm

[Term]
id: HP:0030066
name: Ependymoblastoma
def: "A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system." []
comment: Ependymoblastoma is a rare tumor that occurs in infants and young children in the first two years of life. Both sexes are affected equally. Patients present with signs and symptoms of raised intracranial pressure and hydrocephalus. Focal neurological signs may be present in older children. On MRI, ependymoblastomas are large heterogeneously enhancing lesion with associated brain edema and mass effect. Ependymoblastomas are well-circumscribed lesions, with a distinct margin between tumor and normal brain, though focal microscopic extension and leptomeningeal invasion are common. Histologically, an ependymoblastoma is a primitive neuroectodermal tumor with tumor cell arranged in multilayered rosettes consisting of an outer rim of tumor cells merging with the surrounding undifferentiated neuroectodermal cells. The tumor cells are immunopositive for S100, vimentin, cytokeratin and GFAP, and show high mitotic activity.
xref: MSH:D018242
xref: SNOMEDCT_US:21589007
xref: SNOMEDCT_US:715901002
xref: UMLS:C0700367
is_a: HP:0030070 ! Central primitive neuroectodermal tumor

[Term]
id: HP:0030067
name: Peripheral primitive neuroectodermal neoplasm
def: "A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone." []
xref: MSH:D018241
xref: SNOMEDCT_US:253096008
xref: SNOMEDCT_US:703707001
xref: SNOMEDCT_US:73676002
xref: UMLS:C0684337
is_a: HP:0030065 ! Primitive neuroectodermal tumor

[Term]
id: HP:0030068
name: Olfactory esthesioneuroblastoma
def: "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate." []
xref: MSH:D018304
xref: SNOMEDCT_US:422886007
xref: SNOMEDCT_US:68614005
xref: SNOMEDCT_US:76060004
xref: UMLS:C0206717
is_a: HP:0003006 ! Neuroblastoma

[Term]
id: HP:0030069
name: Primary central nervous system lymphoma
def: "A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS." [pmid:23696924]
comment: Primary central nervous system lymphoma (PCNSL) is defined as the involvement of brain, leptomeninges, cerebrospinal fluid, eyes or spinal cord by an extranodal non-Hodgkin lymphoma (NHL) without evidence of a systemic lymphoma at the time of diagnosis. It represents 0.8 to 6.6% of all primary CNS tumors
synonym: "Primary CNS lymphoma" EXACT HP:0045077 []
xref: SNOMEDCT_US:21964009
xref: SNOMEDCT_US:307649006
xref: UMLS:C0280803
is_a: HP:0012539 ! Non-Hodgkin lymphoma

[Term]
id: HP:0030070
name: Central primitive neuroectodermal tumor
def: "A primitive neuroectodermal neoplasm that occurs in the central nervous system." []
xref: SNOMEDCT_US:39781001
xref: UMLS:C3887678
is_a: HP:0030065 ! Primitive neuroectodermal tumor

[Term]
id: HP:0030071
name: Medulloepithelioma
def: "A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal." [pmid:17566306]
comment: Medulloepithelioma is a rare primitive neuroectodermal tumour of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence.
xref: MSH:D018242
xref: SNOMEDCT_US:39005004
xref: SNOMEDCT_US:715903004
xref: UMLS:C0334596
is_a: HP:0030070 ! Central primitive neuroectodermal tumor

[Term]
id: HP:0030072
name: Paranasal sinus neoplasm
def: "A tumor that originates in the paranasal sinus." []
synonym: "Neoplasm of the paranasal sinuses" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tumor of the paranasal sinuses" NARROW [ORCID:0000-0001-5889-4463]
xref: MSH:D010255
xref: NCIT:C3262
xref: SNOMEDCT_US:126675008
xref: UMLS:C0030470
is_a: HP:0000245 ! Abnormality of the paranasal sinuses
is_a: HP:0012720 ! Neoplasm of the nose

[Term]
id: HP:0030073
name: obsolete Pharyngeal neoplasm
is_obsolete: true
replaced_by: HP:0100638

[Term]
id: HP:0030074
name: Chemodectoma
def: "A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract." []
synonym: "Chemodectomas" EXACT []
xref: MSH:D002345
xref: SNOMEDCT_US:127028003
xref: SNOMEDCT_US:30699005
xref: UMLS:C0007279
is_a: HP:0002668 ! Paraganglioma

[Term]
id: HP:0030075
name: Ductal carcinoma in situ
def: "Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer." [pmid:24415964]
xref: MSH:D002285
xref: SNOMEDCT_US:109889007
xref: SNOMEDCT_US:278053004
xref: SNOMEDCT_US:373176000
xref: SNOMEDCT_US:86616005
xref: UMLS:C0007124
is_a: HP:0100013 ! Neoplasm of the breast

[Term]
id: HP:0030076
name: Lobular carcinoma in situ
xref: MSH:D000071960
xref: SNOMEDCT_US:109888004
xref: UMLS:C0279563
is_a: HP:0100013 ! Neoplasm of the breast

[Term]
id: HP:0030077
name: Bronchial neoplasm
def: "A tumor originating in a bronchus." []
xref: MSH:D001984
xref: NCIT:C3262
xref: SNOMEDCT_US:126705004
xref: UMLS:C0006264
is_a: HP:0025426 ! Abnormal bronchus morphology
is_a: HP:0100526 ! Neoplasm of the lung

[Term]
id: HP:0030078
name: Lung adenocarcinoma
xref: MSH:C538231
xref: NCIT:C2852
xref: SNOMEDCT_US:254626006
xref: UMLS:C0152013
is_a: HP:0030358 ! Non-small cell lung carcinoma

[Term]
id: HP:0030079
name: Cervix cancer
def: "A tumor of the uterine cervix." []
xref: MSH:D002583
xref: NCIT:C3262
xref: SNOMEDCT_US:363354003
xref: UMLS:C4048328
is_a: HP:0010784 ! Uterine neoplasm
is_a: HP:0032241 ! Cervical neoplasm

[Term]
id: HP:0030080
name: Burkitt lymphoma
def: "A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass." []
xref: MSH:D002051
xref: SNOMEDCT_US:118617000
xref: SNOMEDCT_US:22197008
xref: SNOMEDCT_US:277571004
xref: SNOMEDCT_US:397400006
xref: SNOMEDCT_US:77381001
xref: UMLS:C0006413
is_a: HP:0012539 ! Non-Hodgkin lymphoma

[Term]
id: HP:0030081
name: Punctate periventricular T2 hyperintense foci
def: "Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter." []
xref: UMLS:C4022658
is_a: HP:0002518 ! Abnormality of the periventricular white matter
is_a: HP:0030891 ! Periventricular white matter hyperdensities

[Term]
id: HP:0030082
name: Abnormal drinking behavior
def: "Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption." []
comment: Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder.
synonym: "Abnormal drinking behavior" EXACT layperson []
xref: UMLS:C4022657
is_a: HP:0040202 ! Abnormal consumption behavior

[Term]
id: HP:0030083
name: Salt craving
def: "An excessive desire to eat salt (sodium chloride) or salty foods." []
comment: Salt craving can be a sign of low salt levels, Addison's disease, Gitelman syndrome, and other diseases.
synonym: "Salt craving" EXACT layperson []
xref: UMLS:C0240928
is_a: HP:0100738 ! Abnormal eating behavior

[Term]
id: HP:0030084
name: Clinodactyly
def: "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026]
synonym: "Curvature of digit" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Permanent curving of the finger" EXACT layperson [orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:17268007
xref: UMLS:C0265610
xref: UMLS:C4280304
is_a: HP:0011297 ! Abnormal digit morphology

[Term]
id: HP:0030085
name: Abnormal CSF lactate level
def: "Abnormal concentration of lactate in the cerebrospinal fluid." [HPO:probinson]
xref: UMLS:C4022656
is_a: HP:0025454 ! Abnormal CSF metabolite level

[Term]
id: HP:0030086
name: Reduced CSF lactate
def: "Decreased concentration of lactate in the cerebrospinal fluid." []
synonym: "Hypolactatorachia" EXACT []
xref: UMLS:C4022655
is_a: HP:0030085 ! Abnormal CSF lactate level

[Term]
id: HP:0030087
name: Abnormal serum testosterone level
def: "An anomalous concentration of testosterone in the blood." []
synonym: "Abnormal testosterone level" BROAD layperson [HPO:skoehler]
xref: SNOMEDCT_US:166458009
xref: UMLS:C0580454
xref: UMLS:C4022654
is_a: HP:0008373 ! Puberty and gonadal disorders
is_a: HP:0030347 ! Abnormal circulating androgen level
created_by: HPO:skoehler

[Term]
id: HP:0030088
name: Increased serum testosterone level
def: "An elevated circulating testosterone level in the blood." []
synonym: "High serum testosterone level" EXACT [HPO:skoehler]
synonym: "High serum testosterone levels" EXACT [HPO:skoehler]
synonym: "Increased serum testosterone levels" EXACT [HPO:skoehler]
synonym: "Increased testosterone" BROAD layperson [HPO:skoehler]
xref: UMLS:C0241358
xref: UMLS:C4072885
is_a: HP:0030087 ! Abnormal serum testosterone level
is_a: HP:0030348 ! Increased circulating androgen level
created_by: HPO:skoehler

[Term]
id: HP:0030089
name: Abnormal muscle fiber protein expression
def: "An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue." []
xref: UMLS:C4022653
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0030090
name: Abnormal muscle fiber merosin expression
def: "An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve." [HPO:probinson, pmid:2185464]
xref: UMLS:C4022652
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030091
name: Absent muscle fiber merosin
def: "Lack of merosin protein in the muscle biopsy." []
synonym: "Absent merosin staining in muscle biopsy" EXACT []
synonym: "Absent muscle fiber laminin alpha 2" EXACT []
xref: UMLS:C4021055
is_a: HP:0030090 ! Abnormal muscle fiber merosin expression

[Term]
id: HP:0030092
name: Reduced muscle fiber merosin
def: "A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue." [HPO:Probinson]
xref: UMLS:C4022651
is_a: HP:0030090 ! Abnormal muscle fiber merosin expression

[Term]
id: HP:0030093
name: Abnormal muscle fiber laminin beta 1
def: "A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1." [HPO:probinson, pmid:9400354, UToronto:HTrang]
xref: UMLS:C4022650
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030094
name: Reduced muscle fiber laminin beta 1
def: "A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1." []
xref: UMLS:C4022649
is_a: HP:0030093 ! Abnormal muscle fiber laminin beta 1

[Term]
id: HP:0030095
name: Reduced muscle collagen VI
def: "A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle." [UToronto:HTrang]
synonym: "Reduced collagen 6 in muscle" EXACT []
xref: UMLS:C4021054
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030096
name: Abnormal muscle fiber dystrophin expression
def: "A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina." [pmid:11917091, UToronto:HTrang]
xref: UMLS:C4022648
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030097
name: Absent muscle dystrophin expression
def: "Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy." [pmid:11917091, UToronto:htrang]
xref: UMLS:C4022647
is_a: HP:0030096 ! Abnormal muscle fiber dystrophin expression

[Term]
id: HP:0030098
name: Reduced muscle dystrophin expression
def: "A decreased amount of dystrophin in muscle fiber tissue." [UToronto:htrang]
synonym: "Reduced dystrophin staining in muscle" EXACT []
xref: UMLS:C4021053
is_a: HP:0030096 ! Abnormal muscle fiber dystrophin expression

[Term]
id: HP:0030099
name: Reduced muscle fiber alpha dystroglycan
def: "Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly." [HPO:probinson, pmid:11592034, UToronto:htrang]
xref: UMLS:C4022646
is_a: HP:0030112 ! Abnormal muscle fiber alpha dystroglycan

[Term]
id: HP:0030100
name: Abnormal muscle fiber alpha sarcoglycan
def: "Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang]
xref: UMLS:C4022645
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030101
name: Absent muscle fiber alpha sarcoglycan
def: "Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022644
is_a: HP:0030100 ! Abnormal muscle fiber alpha sarcoglycan

[Term]
id: HP:0030102
name: Reduced muscle fiber alpha sarcoglycan
def: "A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022643
is_a: HP:0030100 ! Abnormal muscle fiber alpha sarcoglycan

[Term]
id: HP:0030103
name: Abnormal muscle fiber beta sarcoglycan
def: "Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang]
xref: UMLS:C4022642
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030104
name: Abnormal muscle fiber gamma sarcoglycan
def: "Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang]
xref: UMLS:C4022641
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030105
name: Abnormal muscle fiber delta sarcoglycan
def: "Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang]
xref: UMLS:C4022640
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030106
name: Absent muscle fiber beta sarcoglycan
def: "Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022639
is_a: HP:0030103 ! Abnormal muscle fiber beta sarcoglycan

[Term]
id: HP:0030107
name: Reduced muscle fiber beta sarcoglycan
def: "Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022638
is_a: HP:0030103 ! Abnormal muscle fiber beta sarcoglycan

[Term]
id: HP:0030108
name: Reduced muscle fiber gamma sarcoglycan
def: "Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022637
is_a: HP:0030104 ! Abnormal muscle fiber gamma sarcoglycan

[Term]
id: HP:0030109
name: Absent muscle fiber gamma sarcoglycan
def: "Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022636
is_a: HP:0030104 ! Abnormal muscle fiber gamma sarcoglycan

[Term]
id: HP:0030110
name: Absent muscle fiber delta sarcoglycan
def: "Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022635
is_a: HP:0030105 ! Abnormal muscle fiber delta sarcoglycan

[Term]
id: HP:0030111
name: Reduced muscle fiber delta sarcoglycan
xref: UMLS:C4022634
is_a: HP:0030105 ! Abnormal muscle fiber delta sarcoglycan

[Term]
id: HP:0030112
name: Abnormal muscle fiber alpha dystroglycan
def: "A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly." []
xref: UMLS:C4022633
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030113
name: Abnormal muscle fiber dysferlin
def: "A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing." [HPO:probinson, pmid:24843229]
xref: UMLS:C4022632
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030114
name: Absent muscle fiber dysferlin
def: "Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022631
is_a: HP:0030113 ! Abnormal muscle fiber dysferlin

[Term]
id: HP:0030115
name: Reduced muscle fiber dysferlin
def: "Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022630
is_a: HP:0030113 ! Abnormal muscle fiber dysferlin

[Term]
id: HP:0030116
name: Abnormal muscle fiber emerin
def: "A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue." [HPO:probinson]
xref: UMLS:C4022629
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030117
name: Absent muscle fiber emerin
def: "Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022628
is_a: HP:0030116 ! Abnormal muscle fiber emerin

[Term]
id: HP:0030118
name: Reduced muscle fiber emerin
def: "Immunohistochemistry reveals reduced emerin protein in the muscle biopsy." [UToronto:htrang]
xref: UMLS:C4022627
is_a: HP:0030116 ! Abnormal muscle fiber emerin

[Term]
id: HP:0030119
name: Abnormal muscle fiber calpain-3
def: "A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates." [HPO:probinson, pmid:24843229]
xref: UMLS:C4022626
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030120
name: Absent muscle fiber calpain-3
def: "Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue." [UToronto:htrang]
xref: UMLS:C4022625
is_a: HP:0030119 ! Abnormal muscle fiber calpain-3

[Term]
id: HP:0030121
name: Reduced muscle fiber calpain-3
def: "Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue." [UToronto:htrang]
xref: UMLS:C4022624
is_a: HP:0030119 ! Abnormal muscle fiber calpain-3

[Term]
id: HP:0030122
name: Reduced muscle fiber perlecan
def: "Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2)." [HPO:probinson, UToronto:htrang]
xref: UMLS:C4022623
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030123
name: Abnormal muscle fiber lamin A/C
def: "A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation." [HPO:probinson, pmid:24843229]
xref: UMLS:C4022622
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030124
name: Reduced muscle fiber lamin A/C
def: "A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue." [HPO:probinson, UToronto:htrang]
xref: UMLS:C4022621
is_a: HP:0030123 ! Abnormal muscle fiber lamin A/C

[Term]
id: HP:0030125
name: Sacralization of the fifth lumbar vertebra
def: "A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both." [UToronto:bgallinger]
comment: This anomaly is observed at about 3.5 percent of people and is usually bilateral.
synonym: "L5 sacralization" EXACT []
xref: UMLS:C4021052
is_a: HP:0002948 ! Vertebral fusion

[Term]
id: HP:0030126
name: Abnormality of the endometrium
def: "An anomaly of the inner mucous membrane of the uterus." [HPO:probinson]
xref: UMLS:C4022620
is_a: HP:0031105 ! Abnormal uterus morphology

[Term]
id: HP:0030127
name: Endometriosis
alt_id: HP:0030013
def: "The growth of endometrial tissue outside the uterus." [HPO:probinson, pmid:25221341]
comment: The main manifestations of endometriosis are chronic upper abdominal pain and infertility. Endometriosis occurs primarily on the pelvic peritoneum, ovaries, and rectovaginal septum, and in rare cases on the diaphragm, pleura, and pericardium. Endometriosis affects 6 to 10% of women of reproductive age, 50 to 60% of women and teenage girls with pelvic pain, and up to 50% of women with infertility. Peritoneal disease, which is dependent on estrogen for growth, derives from retrograde menstruation of steroid hormone sensitive endometrial cells and tissues, which implant on peritoneal surfaces and elicit an inflammatory response. This response is accompanied by angiogenesis, adhesions, fibrosis, scarring, neuronal infiltration, and anatomical distortion resulting in pain and infertility.
xref: MSH:D004715
xref: SNOMEDCT_US:129103003
xref: SNOMEDCT_US:396224008
xref: UMLS:C0014175
is_a: HP:0030012 ! Abnormal female reproductive system physiology
is_a: HP:0030126 ! Abnormality of the endometrium

[Term]
id: HP:0030129
name: Impaired ristocetin cofactor assay activity
def: "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma." [HPO:cmiller]
comment: Ristocetin induced platelet agglutination (RIPA) is similar to the Ristocetin Cofactor Assay but RIPA measures platelet agglutination induced by Ristocetin-mediated VWF binding to the platelet Gp1b receptor. WITH RIPA, the ristocetin is added directly to the patient's platelet rich plasma and there are no serial dilutions of the plasma sample.
xref: UMLS:C4022619
is_a: HP:0012146 ! Abnormality of von Willebrand factor

[Term]
id: HP:0030130
name: Impaired von Willibrand factor collagen binding activity
def: "Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers." [HPO:cmiller, pmid:18809794]
comment: This abnormality may be seen in von Willibrand disease type 1, type 2A, type 2B, and type 3.
xref: UMLS:C4022618
is_a: HP:0012146 ! Abnormality of von Willebrand factor

[Term]
id: HP:0030131
name: Abnormal von Willebrand factor multimer distribution
def: "Deviation from the normal von Willebrand factor multimer pattern." [HPO:cmiller]
xref: UMLS:C4022617
is_a: HP:0012146 ! Abnormality of von Willebrand factor

[Term]
id: HP:0030132
name: Absence of large von Willibrand factor multimers
def: "Absence of large von Willebrand Factor multimers on gel electrophoresis." [HPO:cmiller]
comment: Type 2B von Willibrand disease is characterized by lack of large von Willibrand factor multimers with an otherwise normal von Willibrand factor multimer pattern.
xref: UMLS:C4022616
is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution

[Term]
id: HP:0030133
name: Abnormal presence of ultra-large von Willebrand factor multimers
def: "Detection of abnormal ultra-large von Willebrand factor multimers." [HPO:cmiller, pmid:11756169, PMID:25983111]
comment: The type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers.
xref: UMLS:C4022615
is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution

[Term]
id: HP:0030134
name: Total absence von Willebrand factor multimers
def: "Complete absence of all von Willebrand factor multimers." [HPO:cmiller]
xref: UMLS:C4022614
is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution

[Term]
id: HP:0030135
name: Absence of intermediate von Willibrand factor multimers
def: "Lack of intermediate von Willebrand Factor multimers on gel electrophoresis." [HPO:cmiller]
comment: Type 2A von Willibrand disease is characterized by the absence of large and intermediate von Willebrand Factor multimers on gel electrophoresis, with preservation of an otherwise normal multimer pattern.
xref: UMLS:C4022613
is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution

[Term]
id: HP:0030136
name: Enhanced ristocetin cofactor assay activity
def: "Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma." [HPO:cmiller]
comment: This abnormality is characteristic of type 2B von Willibrand disease.
xref: UMLS:C4022612
is_a: HP:0012146 ! Abnormality of von Willebrand factor

[Term]
id: HP:0030137
name: Prolonged bleeding following circumcision
def: "Bleeding that persists for a longer than usual time following circumcision." []
synonym: "Prolonged bleeding following circumcision" EXACT layperson []
xref: UMLS:C4022611
is_a: HP:0011890 ! Prolonged bleeding following procedure

[Term]
id: HP:0030138
name: Excessive bleeding from superficial cuts
def: "An abnormally increased degree of bleeding following a superfical injury to the surface of the skin." [HPO:cmiller]
synonym: "Excessive bleeding from superficial cuts" EXACT layperson []
xref: UMLS:C4022610
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0030139
name: Excessive bleeding after a venipuncture
def: "An abnormal high amount of bleeding following the procedure of taking a blood sample." [HPO:cmiller]
xref: UMLS:C4022609
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0030140
name: Oral cavity bleeding
def: "Recurrent or excessive bleeding from the mouth." [HPO:cmiller]
synonym: "Bleeding from mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Oral cavity bleeding" EXACT layperson []
synonym: "Oral cavity hemorrhage" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022608
is_a: HP:0001892 ! Abnormal bleeding
is_a: HP:0031815 ! Abnormal oral physiology

[Term]
id: HP:0030141
name: Abnormality of the posterior hairline
def: "An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not." [HPO:probinson]
synonym: "Abnormality of hairline at back of head" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022607
is_a: HP:0009553 ! Abnormality of the hairline

[Term]
id: HP:0030142
name: Abnormal bowel sounds
def: "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis." []
synonym: "Abnormal bowel sounds" EXACT layperson []
xref: SNOMEDCT_US:60612008
xref: UMLS:C0159060
is_a: HP:0011458 ! Abdominal symptom

[Term]
id: HP:0030143
name: Hyperactive bowel sounds
def: "An increased amount of bowel sounds." [HPO:probinson]
synonym: "Increased bowel sounds" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:18101008
xref: UMLS:C0232694
is_a: HP:0030142 ! Abnormal bowel sounds

[Term]
id: HP:0030144
name: Hypoactive bowel sounds
def: "An decreased amount of bowel sounds." [HPO:probinson]
synonym: "Decreased bowel sounds" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:15280003
xref: UMLS:C0232695
is_a: HP:0030142 ! Abnormal bowel sounds

[Term]
id: HP:0030145
name: Lack of bowel sounds
def: "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope." [HPO:probinson]
comment: This feature reflects lack of intestinal activity.
synonym: "Lack of bowel sounds" EXACT layperson []
xref: UMLS:C4022606
is_a: HP:0030142 ! Abnormal bowel sounds

[Term]
id: HP:0030146
name: Abnormal liver parenchyma morphology
def: "A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells." [HPO:probinson, PMID:11157536]
xref: UMLS:C4022605
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0030147
name: Truncal titubation
def: "Tremor of the trunk in an anterior-posterior plane at 3-4 Hz." [HPO:probinson]
xref: UMLS:C2674512
is_a: HP:0030187 ! Titubation

[Term]
id: HP:0030148
name: Heart murmur
def: "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." [HPO:probinson]
comment: Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc).
synonym: "Cardiac murmur" EXACT []
synonym: "Cardiac murmurs" EXACT []
synonym: "Heart murmur" EXACT layperson []
synonym: "Heart murmurs" EXACT layperson []
xref: MSH:D006337
xref: SNOMEDCT_US:414786004
xref: SNOMEDCT_US:421493004
xref: SNOMEDCT_US:88610006
xref: UMLS:C0018808
is_a: HP:0031657 ! Abnormal heart sound

[Term]
id: HP:0030149
name: Cardiogenic shock
def: "Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume." [pmid:24188221]
comment: Cardiogenic shock can result from a number of different of cardiac insults, the most common of which is acute myocardial infarction.
synonym: "Cardiovascular shock" EXACT []
xref: MSH:D012770
xref: SNOMEDCT_US:89138009
xref: UMLS:C0036980
is_a: HP:0031273 ! Shock

[Term]
id: HP:0030150
name: Plasmacytosis
def: "An abnormally increased number of plasma cells in tissues, exudates, or blood" []
comment: A plasma cells (also known as plasma B cell, plasmocyte, or effector B cell), is a short-lived antibody-producing cell derived from a B lymphocyte.
xref: UMLS:C0549295
is_a: HP:0004332 ! Abnormal lymphocyte morphology

[Term]
id: HP:0030151
name: Cholangitis
def: "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both." [HPO:probinson, PMID:21994886]
comment: Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis.
synonym: "Bile duct inflammation" EXACT layperson []
xref: MSH:D002761
xref: SNOMEDCT_US:82403002
xref: UMLS:C0008311
is_a: HP:0012440 ! Abnormal biliary tract morphology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0030152
name: obsolete Biliary tract neoplasm
is_obsolete: true
replaced_by: HP:0100574

[Term]
id: HP:0030153
name: Cholangiocarcinoma
def: "Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension." [HPO:probinson, pmid:18536057, pmid:8268770]
synonym: "Bile duct cancer" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D018281
xref: NCIT:C3262
xref: SNOMEDCT_US:312104005
xref: SNOMEDCT_US:70179006
xref: UMLS:C0206698
is_a: HP:0100574 ! Biliary tract neoplasm

[Term]
id: HP:0030154
name: Gallbladder perforation
def: "Rupture of the wall of the gallbladder." [HPO:probinson, pmid:22210542]
comment: Clinical presentation of a ruptured gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately.
synonym: "Gall bladder perforation" EXACT []
xref: SNOMEDCT_US:25345001
xref: UMLS:C0156215
is_a: HP:0012437 ! Abnormal gallbladder morphology

[Term]
id: HP:0030155
name: Scrotal pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum." []
synonym: "Scrotal pain" EXACT layperson []
xref: SNOMEDCT_US:20502007
xref: UMLS:C0236078
is_a: HP:0000045 ! Abnormality of the scrotum
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030156
name: Bence Jones Proteinuria
def: "The presence of free monoclonal immunoglobulin light chains in the urine." [HPO:probinson, pmid:7876381]
comment: Bence Jones proteins are produced by neoplastic plasma cells and can be found in the context of multiple myeloma or Waldenstrom's macroglobulinemia.
xref: SNOMEDCT_US:274771005
xref: UMLS:C0004968
is_a: HP:0000093 ! Proteinuria

[Term]
id: HP:0030157
name: Flank pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank." []
comment: The flank is the area on the side of the abdomen between the ribs and the hip.
synonym: "Flank pain" EXACT layperson []
synonym: "Kidney pain" BROAD layperson []
xref: MSH:D021501
xref: SNOMEDCT_US:247355005
xref: UMLS:C0016199
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030158
name: Cervical ectropion
def: "Eversion of the endocervix with protrusion of the central (endocervical) columnar epithelium through the external os of the cervis into the vaginal milieu." [HPO:probinson, pmid:21270291]
synonym: "Cervical ectopy" EXACT []
synonym: "Cervical erosion" RELATED []
xref: MSH:D002579
xref: SNOMEDCT_US:61253004
xref: SNOMEDCT_US:79342006
xref: UMLS:C0007869
xref: UMLS:C0269189
is_a: HP:0012888 ! Abnormality of the uterine cervix

[Term]
id: HP:0030159
name: Cervical polyp
def: "Abnormal growth of tissue projecting from a mucous membrane of the endocervix." [HPO:probinson, pmid:21270291]
synonym: "Cervical tumor" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D002583
xref: SNOMEDCT_US:123841004
xref: SNOMEDCT_US:65576009
xref: UMLS:C0007855
xref: UMLS:C0007873
is_a: HP:0012888 ! Abnormality of the uterine cervix

[Term]
id: HP:0030160
name: Cervicitis
def: "Inflammation of the uterine cervix." [HPO:probinson, pmid:21270291]
comment: Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology.
synonym: "Uterine cervicitis" EXACT []
synonym: "Uterine cervix inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D002575
xref: SNOMEDCT_US:37610005
xref: UMLS:C0007860
is_a: HP:0012888 ! Abnormality of the uterine cervix

[Term]
id: HP:0030161
name: Vaginal pruritus
def: "A sensation of itching in the vagina." []
xref: SNOMEDCT_US:34363003
xref: UMLS:C0042256
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0000989 ! Pruritus

[Term]
id: HP:0030162
name: Glomerulomegaly
def: "Abnormally large size of glomeruli." [HPO:probinson, pmid:21115671, pmid:9402101]
comment: Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states.
xref: UMLS:C4022604
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology

[Term]
id: HP:0030163
name: Abnormal vascular physiology
def: "Abnormality of vascular function." [HPO:probinson]
xref: UMLS:C4022603
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0030164
name: Jaw claudication
def: "Pain in the jaw or ear induced by chewing or otherwise moving the jaw." [HPO:probinson, pmid:12972467]
synonym: "Jaw pain while chewing" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:43922008
xref: UMLS:C0239064
is_a: HP:0025323 ! Abnormal arterial physiology

[Term]
id: HP:0030165
name: Temporal artery tortuosity
def: "The presence of an increased number of twists and turns of the temporal artery." [HPO:probinson]
xref: UMLS:C4022602
is_a: HP:0005116 ! Arterial tortuosity

[Term]
id: HP:0030166
name: Night sweats
def: "Occurence of excessive sweating during sleep." [HPO:probinson, pmid:23136329]
comment: Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections.
synonym: "Night sweats" EXACT layperson []
synonym: "Nocturnal hyperhidrosis" EXACT []
xref: SNOMEDCT_US:42984000
xref: UMLS:C0028081
is_a: HP:0025142 ! Constitutional symptom

[Term]
id: HP:0030167
name: Antimitochondrial antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria." [HPO:probinson]
synonym: "Serum antimitochrondrial antibodies" EXACT []
xref: UMLS:C4021051
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030168
name: Dilated superficial abdominal veins
def: "Increase in diameter of the veins located underneath the skin of the abdomen." [pmid:5897968]
comment: There are two major causes of dilated superficial abdominal veins: (i) Liver cirrhosis and (ii) vena cava obstruction. With cirrhosis, the blood in the veins flows from umbilicus to periphery.
synonym: "Dilatation of the superficial abdominal veins" EXACT []
xref: UMLS:C4021050
is_a: HP:0001015 ! Prominent superficial veins

[Term]
id: HP:0030169
name: Gastric varix
def: "Extreme dilation of the submucusoal veins in the stomach." [HPO:probinson, pmid:24891929]
synonym: "Gastric varices" RELATED []
xref: MSH:D004932
xref: SNOMEDCT_US:91109007
xref: UMLS:C0017145
is_a: HP:0002577 ! Abnormality of the stomach

[Term]
id: HP:0030170
name: Cystic artery pseudoaneurysm
def: "Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue." [HPO:probinson, pmid:24394852]
xref: UMLS:C4022601
is_a: HP:0012437 ! Abnormal gallbladder morphology

[Term]
id: HP:0030171
name: Perirenal hematoma
def: "A collection of clotted blood surrounding the kidney." [HPO:probinson, pmid:17963347, pmid:3360039]
comment: The causes of a spontaneous perirenal hematoma (SPH) include immunologic disorders, neoplasms (renal cell carcinomas and adenomas), and collagen vascular diseases, but the main cause of a secondary perirenal hematoma is traumatic injury.
xref: SNOMEDCT_US:197824007
xref: UMLS:C0473124
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0030172
name: Peripheral amyelination
def: "Congenital absence of the myelin sheath on a nerve." [HPO:jbeats, pmid:22246888]
xref: UMLS:C4022600
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0030173
name: Peripheral hypermyelination
def: "Increased amount of peripheral myelination." [HPO:probinson]
synonym: "Increased peripheral myelination" EXACT []
xref: UMLS:C4021049
is_a: HP:0003130 ! Abnormal peripheral myelination

[Term]
id: HP:0030174
name: Increased peripheral myelin thickness
def: "Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion." [HPO:jbeats]
xref: UMLS:C4022599
is_a: HP:0030173 ! Peripheral hypermyelination

[Term]
id: HP:0030175
name: Myelin tomacula
def: "The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage)." [HPO:jbeats, pmid:10727485]
comment: Several mechanisms that may lead to the formation of a tomaculum-for example, hypermyelination, redundant loop formation, the presence of a second mesaxon, transnodal myelination, two Schwann cells forming one myelin sheath, and disruption of the myelin sheath. Sural nerve biopsies typically show regions of myelin thickening as well as features of demyelination and remyelination.
synonym: "Tomacula" EXACT []
xref: UMLS:C4020904
is_a: HP:0030173 ! Peripheral hypermyelination

[Term]
id: HP:0030176
name: Asymmetric peripheral demyelination
def: "Loss of myelin from peripheral nerves in a pattern that differs between right and left." [HPO:jbaets]
comment: This feature may be observed in hereditary neuropathy with liability to pressure palsies, but also in acquired inflammatory neuropathies.
xref: UMLS:C4022598
is_a: HP:0011096 ! Peripheral demyelination

[Term]
id: HP:0030177
name: Abnormality of peripheral nervous system electrophysiology
def: "An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles." []
synonym: "Abnormal nerve conduction study" EXACT []
xref: UMLS:C0853150
is_a: HP:0001311 ! Abnormal nervous system electrophysiology

[Term]
id: HP:0030178
name: Abnormality of central nervous system electrophysiology
synonym: "Abnormality of CNS electrophysiology" EXACT HP:0045077 []
xref: UMLS:C4022597
is_a: HP:0001311 ! Abnormal nervous system electrophysiology

[Term]
id: HP:0030179
name: Abnormal peripheral action potential amplitude
def: "An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve." []
xref: UMLS:C4022596
is_a: HP:0003134 ! Abnormality of peripheral nerve conduction

[Term]
id: HP:0030180
name: Oppenheim reflex
def: "Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe)." [UKB:tklockgether]
comment: This reflex can indicate affection of the corticospinal (pyramidal) tracts.
synonym: "Oppenheim sign" EXACT []
xref: SNOMEDCT_US:414949005
xref: UMLS:C1532837
is_a: HP:0007256 ! Abnormal pyramidal sign

[Term]
id: HP:0030181
name: Gordon reflex
def: "Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe)." [pmid:18637037, UKT:rschuele]
comment: Gordon's reflex indicates a lesion of the pyramidal tract.
synonym: "Gordon sign" EXACT []
xref: UMLS:C4021048
is_a: HP:0007256 ! Abnormal pyramidal sign

[Term]
id: HP:0030182
name: Tetraplegia/tetraparesis
def: "Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength." []
xref: UMLS:C4022595
is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction

[Term]
id: HP:0030183
name: Impaired visually enhanced vestibulo-ocular reflex
def: "The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR)." [HPO:probinson, pmid:16954982]
synonym: "Visually enhanced vestibulo-ocular reflex impairment" EXACT []
synonym: "VVOR impairment" EXACT []
xref: UMLS:C4021047
is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex

[Term]
id: HP:0030185
name: Isometric tremor
def: "An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist)." [HPO:probinson, pmid:21404980]
synonym: "Dystonia tremor" RELATED [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022594
xref: UMLS:C4280303
is_a: HP:0002345 ! Action tremor

[Term]
id: HP:0030186
name: Kinetic tremor
def: "Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor." []
synonym: "Essential tremor" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D014202
xref: MSH:D020329
xref: SNOMEDCT_US:30721006
xref: SNOMEDCT_US:609558009
xref: UMLS:C0234376
xref: UMLS:C0270736
is_a: HP:0002345 ! Action tremor

[Term]
id: HP:0030187
name: Titubation
def: "Nodding movement of the head or body." [HPO:probinson, pmid:4821687]
xref: SNOMEDCT_US:78691002
xref: UMLS:C0231690
is_a: HP:0002345 ! Action tremor

[Term]
id: HP:0030188
name: Tremor by anatomical site
def: "Tremor classified by the affected body part." [HPO:probinson]
synonym: "Tremor of a body part" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022593
is_a: HP:0001337 ! Tremor

[Term]
id: HP:0030190
name: Oral motor hypotonia
def: "Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affetc the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior." []
xref: UMLS:C4022592
is_a: HP:0001252 ! Muscular hypotonia

[Term]
id: HP:0030191
name: Abnormal peripheral nervous system synaptic transmission
def: "An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system." []
synonym: "Abnormal PNS synaptic transmission" EXACT []
xref: UMLS:C4021046
is_a: HP:0012535 ! Abnormal synaptic transmission

[Term]
id: HP:0030192
name: Fatigable weakness of bulbar muscles
def: "A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [HPO:probinson, pmid:17986328, UNCL:mbertoli]
xref: UMLS:C4022591
is_a: HP:0003473 ! Fatigable weakness

[Term]
id: HP:0030193
name: Fatigable weakness of chewing muscles
def: "A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UNCL:tevangelista]
xref: UMLS:C4022590
is_a: HP:0030192 ! Fatigable weakness of bulbar muscles

[Term]
id: HP:0030194
name: Fatigable weakness of speech muscles
def: "A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UNCL:hlochmueller]
xref: UMLS:C4022589
is_a: HP:0030192 ! Fatigable weakness of bulbar muscles

[Term]
id: HP:0030195
name: Fatigable weakness of swallowing muscles
def: "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller]
xref: UMLS:C4022588
is_a: HP:0030192 ! Fatigable weakness of bulbar muscles

[Term]
id: HP:0030196
name: Fatigable weakness of respiratory muscles
def: "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli]
xref: UMLS:C4022587
is_a: HP:0003473 ! Fatigable weakness

[Term]
id: HP:0030197
name: Fatigable weakness of skeletal muscles
def: "A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." []
xref: UMLS:C4022586
is_a: HP:0003473 ! Fatigable weakness

[Term]
id: HP:0030198
name: Fatigable weakness of distal limb muscles
def: "A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller]
xref: UMLS:C4022585
is_a: HP:0030197 ! Fatigable weakness of skeletal muscles

[Term]
id: HP:0030199
name: Fatigable weakness of neck muscles
def: "A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller]
xref: UMLS:C4022584
is_a: HP:0030197 ! Fatigable weakness of skeletal muscles

[Term]
id: HP:0030200
name: Fatiguable weakness of proximal limb muscles
def: "A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller]
xref: UMLS:C4022583
is_a: HP:0030197 ! Fatigable weakness of skeletal muscles

[Term]
id: HP:0030201
name: Response to drugs acting on neuromuscular transmission
def: "Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis." [UK:rheller]
xref: UMLS:C4022582
is_a: HP:0030191 ! Abnormal peripheral nervous system synaptic transmission

[Term]
id: HP:0030202
name: Favorable response of weakness to acetylcholine esterase inhibitors
def: "Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor." [UK:rheller]
comment: An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis.
xref: UMLS:C4022581
is_a: HP:0030201 ! Response to drugs acting on neuromuscular transmission

[Term]
id: HP:0030203
name: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
def: "Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor." [UK:rheller]
comment: An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis.
xref: UMLS:C4022580
is_a: HP:0030201 ! Response to drugs acting on neuromuscular transmission

[Term]
id: HP:0030205
name: Increased jitter at single fibre EMG
def: "The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG)." [pmid:21654930, UK:rheller]
comment: Increased jitter values are not pathogonomic for myasthenia, but indicate disturbed neuromuscular transmission.
synonym: "Increased jitter at single fibre electromyography" EXACT []
xref: UMLS:C4021045
is_a: HP:0030006 ! Single fiber EMG abnormality
is_a: HP:0100285 ! EMG: impaired neuromuscular transmission

[Term]
id: HP:0030206
name: EMG: incremental response of compound muscle action potential to repetitive nerve stimulation
def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation." [pmid:23970984, UK:rheller]
comment: This feature may be observed with Lambert-Eaton Myasthenic Ssyndrome.
xref: UMLS:C4022579
is_a: HP:0100285 ! EMG: impaired neuromuscular transmission

[Term]
id: HP:0030207
name: Paradoxical respiration
def: "Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing." [HPO:tevangelista]
synonym: "Flail chest" RELATED []
synonym: "Paradoxical breathing" EXACT []
xref: MSH:D005409
xref: SNOMEDCT_US:12025005
xref: SNOMEDCT_US:78011002
xref: UMLS:C0016196
xref: UMLS:C0231852
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0030208
name: Acetylcholine receptor antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor." [UK:rheller]
xref: UMLS:C4022578
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030209
name: Calcium channel antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels." [pmid:7739683, UNCL:mbertoli]
comment: This abnormality can be observed in patients with Lambert-Eaton syndrome and other paraneoplastic syndromes.
synonym: "Ca channel antibody positivity" EXACT HP:0045077 []
synonym: "Ca2+ channel antibody positivity" EXACT HP:0045077 []
xref: UMLS:C4022577
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030210
name: Muscle specific kinase antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab)." [pmid:22770539, UNCL:hlochmueller]
synonym: "Anti-MUSK antibodies" EXACT []
xref: UMLS:C4021044
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030211
name: Slow pupillary light response
def: "Reduced velocity and acceleration in the pupillary light response." [pmid:974056, UNCL:tevangelista]
xref: UMLS:C4022576
is_a: HP:0007695 ! Abnormal pupillary light reflex

[Term]
id: HP:0030212
name: Collectionism
def: "Excessive or pathological tendency to save and collect possessions." []
synonym: "Compulsive hoarding" EXACT layperson []
xref: SNOMEDCT_US:247968005
xref: UMLS:C0424290
is_a: HP:0000722 ! Obsessive-compulsive behavior

[Term]
id: HP:0030213
name: Emotional blunting
def: "Lack of emotional reactivity and empathy for situations or persons, sometime also for family members." [ICM:PCaroppo]
xref: SNOMEDCT_US:6140007
xref: UMLS:C0233469
is_a: HP:0100851 ! Abnormal emotion/affect behavior

[Term]
id: HP:0030214
name: Hypersexuality
def: "Pathological persistent sexual disinhibiting behavior, directed at oneself or to others." [ICM:PCaroppo]
synonym: "Sex addiction" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:73744004
xref: UMLS:C0312420
xref: UMLS:C0679145
is_a: HP:0008768 ! Inappropriate sexual behavior

[Term]
id: HP:0030215
name: Inappropriate crying
def: "Uncontrolled episodes of crying, without apparent motivating stimuli." [ICM:PCaroppo]
synonym: "Inappropriate crying" EXACT layperson []
xref: UMLS:C0860609
is_a: HP:0000719 ! Inappropriate behavior

[Term]
id: HP:0030216
name: Inertia
def: "Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example)." [ICM:PCaroppo]
xref: UMLS:C4022575
is_a: HP:0000745 ! Diminished motivation

[Term]
id: HP:0030217
name: Limb apraxia
def: "Difficulty in performing the correct execution of limbs movements in absence of motor impairment." [ICM:PCaroppo]
xref: UMLS:C4022574
is_a: HP:0002186 ! Apraxia

[Term]
id: HP:0030218
name: Punding
def: "Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects." [ICM:PCaroppo, pmid:15077237, pmid:25452726]
xref: UMLS:C1963933
is_a: HP:0000733 ! Stereotypy

[Term]
id: HP:0030219
name: Semantic dementia
def: "A progressive loss of the ability to remember the meaning of words, faces and objects." [ICM:PCaroppo, pmid:24966676]
synonym: "Trouble remembering words" RELATED layperson []
xref: MSH:D057180
xref: SNOMEDCT_US:230288001
xref: UMLS:C0338462
is_a: HP:0002145 ! Frontotemporal dementia

[Term]
id: HP:0030220
name: Socially inappropriate behavior
def: "Behavior that is not in line with social norms." [ICM:PCaroppo]
synonym: "Socially inappropriate behavior" EXACT layperson []
xref: UMLS:C2220010
is_a: HP:0000719 ! Inappropriate behavior

[Term]
id: HP:0030221
name: Sweet craving
def: "Excessive desire to eat sweet foods." [ICM:PCaroppo]
synonym: "Sweet craving" EXACT layperson []
xref: UMLS:C0241314
is_a: HP:0100738 ! Abnormal eating behavior

[Term]
id: HP:0030222
name: Visual agnosia
def: "Difficulty in recognizing objects by visual input in absence of sensorial visual impairment." [ICM:PCaroppo]
xref: MSH:D000377
xref: SNOMEDCT_US:25762009
xref: UMLS:C0234502
is_a: HP:0010524 ! Agnosia

[Term]
id: HP:0030223
name: Perseveration
def: "Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact." [HPO:probinson, pmid:9050113]
synonym: "Perseverative behavior" EXACT []
synonym: "Perseverative behaviour" EXACT HP:0045076 []
xref: SNOMEDCT_US:44515000
xref: UMLS:C0233651
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0030224
name: Abnormal muscle fiber desmin
def: "A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein." [Neuromics:vstraub]
xref: UMLS:C4022573
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030225
name: Accumulation of muscle fiber desmin
def: "Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy." [Neuromics:vstraub]
synonym: "Muscle fiber desmin-reactive inclusion bodies" EXACT []
xref: UMLS:C4021043
is_a: HP:0030224 ! Abnormal muscle fiber desmin

[Term]
id: HP:0030226
name: Abnormal muscle fiber myotilin
def: "A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein." [Neuromics:vstraub]
xref: UMLS:C4022572
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030227
name: Accumulation of muscle fiber myotilin
def: "Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy." [Neuromics:vstraub]
xref: UMLS:C4022571
is_a: HP:0030226 ! Abnormal muscle fiber myotilin

[Term]
id: HP:0030228
name: Abnormal muscle fiber valosin-containing protein
def: "A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family." [Neuromics:vstraub]
xref: UMLS:C4022570
is_a: HP:0030089 ! Abnormal muscle fiber protein expression

[Term]
id: HP:0030229
name: Accumulation of muscle fiber valosin-containing protein
def: "Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy." [Neuromics:vstraub]
xref: UMLS:C4022569
is_a: HP:0030228 ! Abnormal muscle fiber valosin-containing protein

[Term]
id: HP:0030230
name: Central core regions in muscle fibers
def: "The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric." [Neuromics:vstraub, pmid:17504518]
xref: UMLS:C4022568
is_a: HP:0004303 ! Abnormality of muscle fibers

[Term]
id: HP:0030231
name: Glycogen accumulation in muscle fiber lysosomes
def: "An increased amount of glycogen in muscle tissue found specifically in lysosomes." [Neuromics:vstraub]
xref: UMLS:C4022567
is_a: HP:0009051 ! Increased muscle glycogen content

[Term]
id: HP:0030232
name: Increased sarcoplasmic glycogen
def: "Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers." [HPO:probinson]
xref: UMLS:C4022566
is_a: HP:0009051 ! Increased muscle glycogen content

[Term]
id: HP:0030233
name: Bethlem sign
def: "Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures." [Neuromics:vstraub]
synonym: "Bethlem phenomenon" EXACT []
xref: UMLS:C4021042
is_a: HP:0009473 ! Joint contracture of the hand

[Term]
id: HP:0030234
name: Highly elevated creatine kinase
def: "An increased CPK level between 4X and 50X above the upper normal level." [Neuromics:vstraub]
synonym: "Highly elevated CPK" EXACT HP:0045077 []
synonym: "Highly elevated creatine phosphokinase" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Highly elevated serum CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Highly elevated serum CPK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Highly elevated serum phosph-CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4022565
is_a: HP:0003236 ! Elevated serum creatine kinase

[Term]
id: HP:0030235
name: Extremely elevated creatine kinase
def: "An increased creatine kinase level more than 50X above the upper normal level." [https://orcid.org/0000-0001-7941-2961, Neuromics:vstraub]
synonym: "Extremely elevated CPK" EXACT HP:0045077 []
synonym: "Extremely elevated creatine phosphokinase" EXACT [https://orcid.org/0000-0001-7941-2961]
synonym: "Extremely elevated phospho-CK serum level" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Extremely elevated serum CK level" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Extremely high CPK level" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
xref: UMLS:C4022564
is_a: HP:0003236 ! Elevated serum creatine kinase

[Term]
id: HP:0030236
name: Abnormality of muscle size
def: "Abnormalities of the overall muscle bulk based on clinical observation." [Neuromics:vstraub]
synonym: "Abnormality of muscle size" EXACT layperson []
xref: UMLS:C4022563
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0030237
name: Hand muscle weakness
def: "Reduced strength of the musculature of the hand." [HPO:probinson]
synonym: "Hand muscle weakness" EXACT layperson []
xref: SNOMEDCT_US:298283006
xref: UMLS:C0239831
is_a: HP:0001421 ! Abnormality of the musculature of the hand

[Term]
id: HP:0030239
name: Hypoplasia of the upper arm musculature
def: "Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis." [HPO:probinson]
synonym: "Underdeveloped upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022562
is_a: HP:0009016 ! Upper limb muscle hypoplasia

[Term]
id: HP:0030241
name: Hypoplasia of deltoid muscle
alt_id: HP:0009039
alt_id: HP:0009044
def: "Underdevelopment of the deltoid muscle." [Neuromics:vstraub]
synonym: "Deltoid muscle hypoplasia" EXACT []
xref: UMLS:C1868170
is_a: HP:0008952 ! Shoulder muscle hypoplasia

[Term]
id: HP:0030242
name: Portal vein thrombosis
def: "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins." [HPO:probinson, pmid:21960890]
comment: Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion.
synonym: "Blood clot in portal vein" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:17920008
xref: UMLS:C0155773
is_a: HP:0030247 ! Splanchnic vein thrombosis

[Term]
id: HP:0030243
name: Hepatic vein thrombosis
def: "An obstruction in the veins of the liver caused by a blood clot (thrombosis)." [HPO:probinson]
synonym: "Blood clot in liver vein" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hepatic venous thrombosis" EXACT []
xref: MSH:D006502
xref: SNOMEDCT_US:38739001
xref: UMLS:C0019154
is_a: HP:0030247 ! Splanchnic vein thrombosis

[Term]
id: HP:0030244
name: Maternal fever in pregnancy
def: "The occurence of an elevated body temperature of the mother during pregnancy." [HPO:probinson, pmid:24567014]
comment: There is evidence to suugest that maternal fever during pregnancy may negatively affect offspring healthneural tube defects, congenital heart defects, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester.
synonym: "Maternal fever during pregnancy" EXACT []
xref: UMLS:C4021041
is_a: HP:0001945 ! Fever
is_a: HP:0002686 ! Prenatal maternal abnormality

[Term]
id: HP:0030245
name: Intrapartum fever
def: "The occurence of maternal fever during labor." [HPO:probinson, pmid:11430951, pmid:8135133]
comment: Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality.
synonym: "Maternal fever during labor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3829514
is_a: HP:0030244 ! Maternal fever in pregnancy

[Term]
id: HP:0030246
name: Maternal first trimester fever
def: "The occurence of fever in a mother during the first trimester of pregnancy." [HPO:probinson, pmid:24917213]
xref: UMLS:C4022561
is_a: HP:0030244 ! Maternal fever in pregnancy

[Term]
id: HP:0030247
name: Splanchnic vein thrombosis
def: "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)." [HPO:probinson, pmid:20532730]
synonym: "Blood clot in splanchnic vein" EXACT [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022560
is_a: HP:0004936 ! Venous thrombosis

[Term]
id: HP:0030248
name: Mesenteric venous thrombosis
def: "A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine)." []
comment: Mesenteric venous thrombosis may be associated with abdominal pain and bloating, diarrhea, fever, gastrointestinal bleeding, and vomiting.
synonym: "Blood clot in mesentertic vein" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:D065666
xref: SNOMEDCT_US:95446005
xref: UMLS:C0267412
is_a: HP:0030247 ! Splanchnic vein thrombosis

[Term]
id: HP:0030249
name: Enanthema
def: "A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx." [HPO:probinson]
xref: SNOMEDCT_US:5862001
xref: UMLS:C0014034
is_a: HP:0011830 ! Abnormal oral mucosa morphology

[Term]
id: HP:0030250
name: Pulmonary granulomatosis
def: "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung." []
xref: UMLS:C0856628
is_a: HP:0002088 ! Abnormal lung morphology

[Term]
id: HP:0030251
name: Absence of memory B cells
def: "Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin." [HPO:probinson]
xref: UMLS:C4022559
is_a: HP:0030252 ! Absence of mature B cells

[Term]
id: HP:0030252
name: Absence of mature B cells
def: "Complete lack of mature B cells, that is, of B cells that have left the bone marrow." [HPO:probinson]
xref: UMLS:C4022558
is_a: HP:0010976 ! B lymphocytopenia

[Term]
id: HP:0030253
name: Defective T cell proliferation
def: "A reduced ability of a T cell population to expand by cell division following T cell activation." [HPO:probinson]
xref: UMLS:C4022557
is_a: HP:0005435 ! Impaired T cell function
is_a: HP:0031379 ! Abnormal T cell proliferation

[Term]
id: HP:0030254
name: Nail bed hemorrhage
def: "Small areas of bleeding (hemorrhage) under the fingernail or toenail." [HPO:probinson]
xref: UMLS:C0877087
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0030255
name: Large intestinal polyposis
def: "The presence of multiple polyps in the large intestine." [HPO:probinson]
xref: UMLS:C4022556
is_a: HP:0200008 ! Intestinal polyposis

[Term]
id: HP:0030256
name: Small intestinal polyposis
def: "The presence of multiple polyps in the small intestine." [HPO:probinson]
xref: UMLS:C4022555
is_a: HP:0200008 ! Intestinal polyposis

[Term]
id: HP:0030257
name: Freckled genitalia
def: "One or more brown punctate macules on the skin of the genitalia." [HPO:probinson, pmid:23650202]
comment: This should be differentiated from Hyperpigmented genitalia in which an area larger than a freckle or the complete external genitalia are hyperpigmented. The description should be qualified by a description of the affected part(s).
synonym: "Freckled genitalia" EXACT layperson []
synonym: "Genitalia, ephelides" EXACT []
xref: UMLS:C4021040
is_a: HP:0012293 ! Abnormal genital pigmentation

[Term]
id: HP:0030258
name: Hyperpigmented genitalia
def: "Localized or generalized increased genital pigmentation." []
comment: This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s).
synonym: "Increased genital pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Penile melanosis" RELATED []
xref: UMLS:C4020713
xref: UMLS:C4022554
is_a: HP:0012293 ! Abnormal genital pigmentation

[Term]
id: HP:0030259
name: Hypopigmented genitalia
def: "Localized or generalized decreased genital pigmentation." [HPO:probinson, pmid:23650202]
comment: This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation.
synonym: "Decreased genital pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022553
is_a: HP:0012293 ! Abnormal genital pigmentation

[Term]
id: HP:0030260
name: Microphallus
def: "Length of penis more than 2 SD below the mean for age accompanied by hypospadias." [HPO:probinson, pmid:23650202]
comment: Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat ("buried"). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean.
xref: SNOMEDCT_US:276333003
xref: UMLS:C0240701
is_a: HP:0008736 ! Hypoplasia of penis

[Term]
id: HP:0030261
name: Absent penis
alt_id: HP:0040316
def: "Lack of recognizable penile structures." [HPO:probinson, pmid:23650202]
comment: Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue.
synonym: "Absent penis" EXACT layperson []
synonym: "Aphallia" EXACT []
synonym: "Aplasia of the penis" EXACT []
synonym: "Penis aplasia" EXACT []
xref: SNOMEDCT_US:204908001
xref: SNOMEDCT_US:59981001
xref: UMLS:C0555231
is_a: HP:0000036 ! Abnormality of the penis

[Term]
id: HP:0030262
name: Narrow penis
def: "Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age." [HPO:probinson, pmid:23650202]
comment: Penile width is the distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis.
synonym: "Narrow penis" EXACT layperson []
xref: UMLS:C4022552
is_a: HP:0000036 ! Abnormality of the penis

[Term]
id: HP:0030263
name: Torsion of the penis
def: "Rotated position of the glans, with or without the penile shaft, of 30 degrees or more." [HPO:probinson, pmid:23650202]
comment: Penile torsion is defined traditionally as being between 30 and 180 degrees rotation. Penile torsion is usually counter clockwise and is often associated with Chordee and Hypospadias, which should be coded separately.
xref: UMLS:C1407019
is_a: HP:0000036 ! Abnormality of the penis

[Term]
id: HP:0030264
name: Webbed penis
def: "Ventral skinfold extending from penis to scrotum." [pmid:23650202]
comment: The distal limit of the skinfold can be located on the penile shaft or the tip of the penis.
synonym: "Webbed penis" EXACT layperson []
xref: SNOMEDCT_US:253852007
xref: UMLS:C0431670
is_a: HP:0000036 ! Abnormality of the penis

[Term]
id: HP:0030265
name: Wide penis
def: "Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age." [pmid:23650202]
synonym: "Wide penis" EXACT layperson []
xref: UMLS:C4022551
is_a: HP:0030264 ! Webbed penis

[Term]
id: HP:0030266
name: Abnormality of the sacroiliac notch
xref: UMLS:C4022550
is_a: HP:0100781 ! Abnormality of the sacroiliac joint

[Term]
id: HP:0030267
name: Calcification of the interosseus membrane of the forearm
def: "Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna." [HPO:probinson]
xref: UMLS:C4022549
is_a: HP:0002973 ! Abnormality of the forearm

[Term]
id: HP:0030268
name: Hyperplastic callus formation
def: "Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing." [HPO:probinson, pmid:12913845, pmid:17451374]
xref: UMLS:C4022548
is_a: HP:0011842 ! Abnormality of skeletal morphology

[Term]
id: HP:0030269
name: Increased serum insulin-like growth factor 1
def: "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson, pmid:18436706]
comment: Growth hormone and IGF-I are important regulators of bone homeostasis throughout life. During the prepubertal period, GH and IGF-I are determinants of longitudinal bone growth, skeletal maturation, and acquisition of bone mass, whereas in adults they are important in the maintenance of bone mass.
synonym: "Elevated serum IGF1" EXACT []
synonym: "Increased serum IGF1" EXACT []
synonym: "Increased serum insulin-like growth factor 1" EXACT []
xref: UMLS:C2676198
is_a: HP:0030352 ! Abnormal serum insulin-like growth factor 1 level

[Term]
id: HP:0030270
name: Elevated red cell adenosine deaminase activity
def: "Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine." [HPO:probinson, pmid:3348976]
xref: UMLS:C4022547
is_a: HP:0030272 ! Abnormal erythrocyte enzyme activity

[Term]
id: HP:0030271
name: Reduced erythrocyte 2,3-diphosphoglycerate concentration
def: "2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes." [HPO:probinson]
xref: UMLS:C4022546
is_a: HP:0001877 ! Abnormal erythrocyte morphology

[Term]
id: HP:0030272
name: Abnormal erythrocyte enzyme activity
def: "An altered ability of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered levels of an enzyme." []
xref: UMLS:C4022545
is_a: HP:0001877 ! Abnormal erythrocyte morphology
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0030273
name: Reduced red cell adenosine deaminase activity
def: "Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine." [HPO:probinson]
xref: UMLS:C4022544
is_a: HP:0030272 ! Abnormal erythrocyte enzyme activity

[Term]
id: HP:0030274
name: Accessory scrotum
def: "Additional scrotum, or part of a scrotum in an abnormal location." [pmid:23650202]
comment: An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately.
synonym: "Extra scrotum" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022543
is_a: HP:0000045 ! Abnormality of the scrotum

[Term]
id: HP:0030275
name: Ectopic scrotum
def: "Scrotum in a position other than the usual position inferior to the base of the penis." [pmid:23650202]
comment: This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations.
synonym: "Abnormal scrotum position" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022542
is_a: HP:0000045 ! Abnormality of the scrotum

[Term]
id: HP:0030276
name: Small scrotum
def: "Apparently small scrotum for age." [pmid:23650202]
comment: A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum.
synonym: "Small scrotum" EXACT layperson []
synonym: "Underdeveloped scrotum" EXACT layperson []
xref: SNOMEDCT_US:204912007
xref: UMLS:C0431659
is_a: HP:0000045 ! Abnormality of the scrotum

[Term]
id: HP:0030277
name: Abnormal vertebral pedicle morphology
def: "Abnormal morphology of a vertebral pedical." [UToronto:bgallinger]
comment: The pedicle is part of the lumbar vertebrae - each lumbar vertebra consists of a vertebral body and a vertebral arch. The vertebral arch, consisting of a pair of pedicles and a pair of laminae, encloses the vertebral foramen.
xref: UMLS:C4022541
is_a: HP:0008438 ! Vertebral arch anomaly

[Term]
id: HP:0030278
name: Hypoplastic vertebral pedicle
def: "Underdeveloped vertebral pedicle." [HPO:probinson]
xref: UMLS:C4022540
is_a: HP:0030277 ! Abnormal vertebral pedicle morphology

[Term]
id: HP:0030279
name: Hypoplastic L5 vertebral pedicle
def: "Underdeveloped pedicle of the fifth lumbar vertebra." [UToronto:bgallinger]
xref: UMLS:C4022539
is_a: HP:0030278 ! Hypoplastic vertebral pedicle

[Term]
id: HP:0030280
name: Rib gap
def: "Radiolucent focal defect of a rib shaft." [HPO:probinson]
comment: A rib gap can be congenital or acquired. If congenital this feature is nearly pathgnomonic for Cerebrocostomandibular syndrome (MIM:117650). Acquired rib gaps can be seen after surgical procedures or with fractures or infections.
synonym: "Rib gap" EXACT layperson []
xref: SNOMEDCT_US:249705009
xref: UMLS:C0426827
is_a: HP:0000772 ! Abnormality of the ribs

[Term]
id: HP:0030281
name: Cervical C3/C4 vertebral fusion
def: "Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development." []
xref: UMLS:C4022538
is_a: HP:0002949 ! Fused cervical vertebrae

[Term]
id: HP:0030282
name: Posterior rib gap
def: "Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest." [UToronto:bgallinger]
synonym: "Dorsal rib defect" EXACT []
xref: UMLS:C1842696
is_a: HP:0030280 ! Rib gap

[Term]
id: HP:0030283
name: Partial absence of the septum pellucidum
def: "Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain." [UToronto:bgallinger]
xref: SNOMEDCT_US:422474003
xref: UMLS:C1827299
is_a: HP:0007375 ! Abnormality of the septum pellucidum

[Term]
id: HP:0030284
name: Triangular tongue
def: "A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle." [UToronto:bgallinger]
synonym: "Triangle shaped tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Triangular tongue" EXACT layperson []
xref: UMLS:C4022537
is_a: HP:0000158 ! Macroglossia

[Term]
id: HP:0030285
name: Splayed superior cerebellar peduncle
def: "Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle." [HPO:probinson]
xref: UMLS:C4022536
is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle

[Term]
id: HP:0030286
name: Atrophic superior cerebellar peduncle
def: "Atrophy of the superior cerebellar peduncle." [HPO:probinson]
xref: UMLS:C4022535
is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle

[Term]
id: HP:0030289
name: Flattened femoral epiphysis
def: "An abnormal flattening of an epiphysis of femur." [HPO:probinson]
synonym: "Flattended end part of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1850642
is_a: HP:0003071 ! Flattened epiphysis

[Term]
id: HP:0030290
name: Unossified sacrum
def: "Lack of ossification of the sacrum." [HPO:probinson]
synonym: "Absence of sacrum ossification" EXACT []
xref: UMLS:C2675562
is_a: HP:0025370 ! Abnormal ossification of the sacrum

[Term]
id: HP:0030291
name: Lower-limb metaphyseal irregularity
def: "Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg." [HPO:probinson]
xref: UMLS:C4022534
is_a: HP:0003025 ! Metaphyseal irregularity

[Term]
id: HP:0030292
name: Tibial metaphyseal irregularity
def: "Irregularity of the normally smooth surface of a metaphysis of a tibia." [HPO:probinson]
xref: UMLS:C4022533
is_a: HP:0030291 ! Lower-limb metaphyseal irregularity

[Term]
id: HP:0030293
name: Fibular metaphyseal irregularity
def: "Irregularity of the normally smooth surface of a metaphysis of a fibula." [HPO:probinson]
synonym: "Irregularity of wide portion of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022532
is_a: HP:0030291 ! Lower-limb metaphyseal irregularity

[Term]
id: HP:0030294
name: Metaphyseal chondromatosis of tibia
xref: UMLS:C4022531
is_a: HP:0005868 ! Metaphyseal enchondromatosis

[Term]
id: HP:0030295
name: Metaphyseal chondromatosis of femur
xref: UMLS:C4022530
is_a: HP:0005868 ! Metaphyseal enchondromatosis

[Term]
id: HP:0030296
name: Metaphyseal chondromatosis of radius
xref: UMLS:C4022529
is_a: HP:0005868 ! Metaphyseal enchondromatosis

[Term]
id: HP:0030297
name: Metaphyseal chondromatosis of ulna
xref: UMLS:C4022528
is_a: HP:0005868 ! Metaphyseal enchondromatosis

[Term]
id: HP:0030298
name: Metaphyseal chondromatosis of humerus
xref: UMLS:C4021860
is_a: HP:0005868 ! Metaphyseal enchondromatosis

[Term]
id: HP:0030299
name: Distal femoral metaphyseal abnormality
def: "An anomaly of the metaphysis of the distal femur (close to the knee)." [HPO:probinson]
synonym: "Abnormality of wide portion of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022527
is_a: HP:0006489 ! Abnormality of the femoral metaphysis

[Term]
id: HP:0030300
name: 10 pairs of ribs
def: "Presence of only 10 (instead of the usual 12) pairs of ribs." [UToronto:bgallinger]
synonym: "10 pairs of ribs" EXACT layperson []
xref: UMLS:C4022526
is_a: HP:0000921 ! Missing ribs

[Term]
id: HP:0030301
name: Abnormality of the anterior commissure
def: "An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts." [UToronto:bgallinger]
comment: The human brain commissures comprise the corpus callosum, the anterior commissure, the fornix, and the posterior commissure.
xref: UMLS:C4022525
is_a: HP:0002500 ! Abnormality of the cerebral white matter

[Term]
id: HP:0030302
name: Agenesis of the anterior commissure
def: "Absence of the anterior commissure." [UToronto:bgallinger]
xref: UMLS:C1851087
is_a: HP:0030301 ! Abnormality of the anterior commissure

[Term]
id: HP:0030303
name: Hypoplastic anterior commissure
def: "Underdevelopment of the anterior commissure." [UToronto:bgallinger]
xref: UMLS:C4022524
is_a: HP:0030301 ! Abnormality of the anterior commissure

[Term]
id: HP:0030304
name: Abnormal number of vertebrae
def: "A deviation from the normal number of vertebrae in the spinal column." [HPO:probinson]
xref: UMLS:C4022523
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0030305
name: Decreased number of vertebrae
xref: UMLS:C4022522
is_a: HP:0030304 ! Abnormal number of vertebrae

[Term]
id: HP:0030306
name: 11 thoracic vertebrae
def: "The presence of 11 instead of the normal 12 thoracic vertebrae." [UToronto:bgallinger]
xref: UMLS:C4022521
is_a: HP:0030305 ! Decreased number of vertebrae

[Term]
id: HP:0030307
name: Flared lower limb metaphysis
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg." [HPO:probinson]
synonym: "Flared metaphysis of lower limb bone" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022520
is_a: HP:0003015 ! Flared metaphysis

[Term]
id: HP:0030308
name: Flared distal tibial metaphysis
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia." [HPO:probinson]
synonym: "Flared outermost metaphysis of shankbone" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Flared outermost metaphysis of shinbone" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022519
is_a: HP:0030307 ! Flared lower limb metaphysis

[Term]
id: HP:0030309
name: Flared distal fibular metaphysis
def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula." [HPO:probinson]
synonym: "Flared outermost wide portion of of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022518
is_a: HP:0030307 ! Flared lower limb metaphysis

[Term]
id: HP:0030310
name: Upper extremity joint dislocation
def: "Displacement or malalignment of one or more joints in the upper extremity (arm)." [HPO:probinson]
synonym: "Dislocated arm joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022517
is_a: HP:0001373 ! Joint dislocation

[Term]
id: HP:0030311
name: Lower extremity joint dislocation
def: "Displacement or malalignment of one or more joints in the lower extremity (leg)." [HPO:probinson]
synonym: "Dislocated leg joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022516
is_a: HP:0001373 ! Joint dislocation

[Term]
id: HP:0030312
name: Obliteration of the calvarial diploe
def: "Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe)." [HPO:probinson]
synonym: "Obliteration of cranial cancellous bone" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C1860855
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0030313
name: Abnormal periosteum morphology
def: "An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones." [HPO:probinson]
xref: UMLS:C4022515
is_a: HP:0003330 ! Abnormal bone structure
is_a: HP:0040166 ! Abnormality of the periosteum

[Term]
id: HP:0030314
name: Periostosis
def: "Abnormal deposition of periosteal bone." []
xref: UMLS:C1409412
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0030318
name: Angular cheilitis
def: "A type of inflammation of the lips involving one or both of the corners of the mouth." [HPO:probinson]
synonym: "Angular cheilosis" EXACT []
synonym: "Angular stomatitis" EXACT []
synonym: "Commissural cheilitis" EXACT []
synonym: "Inflammation of corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Inflammation of oral commisures" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Red and sore corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:266429005
xref: UMLS:C0221237
is_a: HP:0100825 ! Cheilitis

[Term]
id: HP:0030319
name: Weakness of facial musculature
def: "Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson]
synonym: "Decreased facial muscle strength" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Decreased strength of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Face weakness" EXACT layperson []
synonym: "Facial muscle weakness" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Facial weakness" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
synonym: "Myasthenia of facial muscles" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Reduced facial muscle strength" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Weakness of face" EXACT layperson []
synonym: "Weakness of facial musculature" EXACT layperson []
xref: UMLS:C4022514
is_a: HP:0000301 ! Abnormality of facial musculature

[Term]
id: HP:0030320
name: Increased intervertebral space
def: "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space." [HPO:probinson]
xref: UMLS:C4022513
is_a: HP:0005108 ! Abnormality of the intervertebral disk

[Term]
id: HP:0030321
name: Abnormal vertebral artery morphology
def: "An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system." [HPO:probinson]
synonym: "Abnormality of the vertebral artery" EXACT []
xref: UMLS:C4022512
is_a: HP:0011004 ! Abnormal systemic arterial morphology

[Term]
id: HP:0030322
name: Vertebral artery hypoplasia
def: "Underdevelopment of the vertebral artery." []
xref: UMLS:C1868737
is_a: HP:0030321 ! Abnormal vertebral artery morphology

[Term]
id: HP:0030323
name: Unilateral vertebral artery hypoplasia
def: "Underdevelopment of the vertebral artery on one side." [HPO:probinson]
xref: UMLS:C3279090
is_a: HP:0030322 ! Vertebral artery hypoplasia

[Term]
id: HP:0030324
name: Bilateral vertebral artery hypoplasia
def: "Underdevelopment of the vertebral artery on both sides." [HPO:probinson, pmid:23816871]
xref: UMLS:C4022511
is_a: HP:0030322 ! Vertebral artery hypoplasia

[Term]
id: HP:0030325
name: Cervicomedullary schisis
def: "Fissure within the spinal cord of the neck." [HPO:probinson]
xref: UMLS:C4022510
is_a: HP:0002143 ! Abnormality of the spinal cord

[Term]
id: HP:0030326
name: Abnormal macrophage count
def: "An anomaly in the number of macrophages." [HPO:probinson]
xref: UMLS:C4022509
is_a: HP:0004311 ! Abnormal macrophage morphology

[Term]
id: HP:0030327
name: Abnormal osteoclast count
def: "An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages." []
xref: UMLS:C4022508
is_a: HP:0030326 ! Abnormal macrophage count

[Term]
id: HP:0030328
name: Decreased osteoclast count
def: "Decreased number of osteoclasts." [HPO:probinson]
xref: UMLS:C4022507
is_a: HP:0030327 ! Abnormal osteoclast count

[Term]
id: HP:0030329
name: Retinal thinning
def: "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)." [HPO:probinson]
synonym: "Retinal thinning" EXACT layperson []
xref: UMLS:C3549703
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0030330
name: Multinucleated giant chondrocytes in epiphyseal cartilage
def: "The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage." [HPO:probinson]
xref: UMLS:C4022506
is_a: HP:0005930 ! Abnormality of epiphysis morphology

[Term]
id: HP:0030331
name: Impaired stimulus-induced skin wrinkling
def: "A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth)." [pmid:19375384, UToronto:bgallinger]
xref: UMLS:C4022505
is_a: HP:0011122 ! Abnormality of skin physiology

[Term]
id: HP:0030332
name: obsolete Abnormal T cell morphology
is_obsolete: true
replaced_by: HP:0002843

[Term]
id: HP:0030333
name: Abnormal alpha-beta T cell morphology
def: "A structuraly anomaly of T cells that express an alpha-beta T cell receptor." []
comment: Normally, most T cells express a T cell receptor (TCR) that consists of an alpha and a beta chain. A smaller subset of T cells express a TCR consisting of gamma and delta chains,
xref: UMLS:C4022503
is_a: HP:0002843 ! Abnormal T cell morphology

[Term]
id: HP:0030334
name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology
def: "A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells." [HPO:probinson]
xref: UMLS:C4022502
is_a: HP:0030333 ! Abnormal alpha-beta T cell morphology

[Term]
id: HP:0030335
name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count
def: "A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells." [HPO:probinson]
xref: UMLS:C4021859
is_a: HP:0030334 ! Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology

[Term]
id: HP:0030336
name: Absence of CD4-positive, CD25-positive regulatory T cells
def: "Lack of CD4+CD25+ T regulatory cells." [HPO:probinson]
synonym: "Absence of CD4+CD25+ T regulatory cells" EXACT []
synonym: "Absence of CD4+CD25+ Tregs" EXACT []
xref: UMLS:C4021039
is_a: HP:0030335 ! Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

[Term]
id: HP:0030337
name: Elevated CD4-positive, CD25-positive regulatory T cell count
def: "An increased number of CD4-positive, CD25-positive regulatory T cells." [HPO:probinson]
xref: UMLS:C4022501
is_a: HP:0030335 ! Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

[Term]
id: HP:0030338
name: Abnormal circulating gonadotropin level
def: "An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)." [HPO:probinson]
xref: UMLS:C4072886
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0030339
name: Decreased circulating gonadotropin level
def: "A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)." [HPO:probinson]
xref: UMLS:C4072887
is_a: HP:0030338 ! Abnormal circulating gonadotropin level

[Term]
id: HP:0030340
name: obsolete Increased circulating gonadotropin level
is_obsolete: true
replaced_by: HP:0000837

[Term]
id: HP:0030341
name: Decreased circulating follicle stimulating hormone level
def: "A reduction of the circulating level of follicle-stimulating hormone (FSH)." [HPO:probinson]
xref: UMLS:C4072889
is_a: HP:0030339 ! Decreased circulating gonadotropin level
is_a: HP:0030346 ! Abnormal circulating follicle-stimulating hormone level

[Term]
id: HP:0030344
name: Decreased circulating luteinizing hormone level
def: "A reduction in the circulating level of luteinizing hormone (LH)." [HPO:probinson]
synonym: "Decreased circulating luteinising hormone level" EXACT []
xref: UMLS:C4072890
is_a: HP:0030339 ! Decreased circulating gonadotropin level
is_a: HP:0030345 ! Abnormal circulating luteinizing hormone level

[Term]
id: HP:0030345
name: Abnormal circulating luteinizing hormone level
def: "An anomaly of the circulating level of luteinizing hormone (LH)." []
synonym: "Abnormal luteinizing hormone level" EXACT [HPO:skoehler]
synonym: "Increased circulating lutropin" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:166374003
xref: UMLS:C0580438
is_a: HP:0030338 ! Abnormal circulating gonadotropin level

[Term]
id: HP:0030346
name: Abnormal circulating follicle-stimulating hormone level
def: "An anomaly of the circulating level of follicle-stimulating hormone (FSH)." [HPO:probinson]
xref: UMLS:C4072891
is_a: HP:0030338 ! Abnormal circulating gonadotropin level

[Term]
id: HP:0030347
name: Abnormal circulating androgen level
def: "An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson]
xref: UMLS:C4072892
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0030348
name: Increased circulating androgen level
def: "An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson]
xref: UMLS:C4072893
is_a: HP:0030347 ! Abnormal circulating androgen level

[Term]
id: HP:0030349
name: Decreased circulating androgen level
def: "A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson]
xref: UMLS:C4072894
is_a: HP:0030347 ! Abnormal circulating androgen level

[Term]
id: HP:0030350
name: Erythematous papule
def: "A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color." [HPO:probinson]
synonym: "Red-blue papule" RELATED []
xref: UMLS:C0747241
is_a: HP:0200034 ! Papule

[Term]
id: HP:0030351
name: Urticarial plaque
def: "A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter." []
xref: UMLS:C4072895
is_a: HP:0200035 ! Skin plaque

[Term]
id: HP:0030352
name: Abnormal serum insulin-like growth factor 1 level
def: "An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson]
xref: UMLS:C4072896
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0030353
name: Decreased serum insulin-like growth factor 1
def: "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson]
xref: UMLS:C4072897
is_a: HP:0030352 ! Abnormal serum insulin-like growth factor 1 level

[Term]
id: HP:0030354
name: Abnormal serum interferon level
def: "Abnormal levels of interferon in the blood." [PMID:28487810]
xref: UMLS:C4072898
is_a: HP:0011112 ! Abnormality of serum cytokine level

[Term]
id: HP:0030355
name: Abnormal serum interferon-gamma level
def: "Abnormal levels of interferon gamma measured in the blood circulation." [PMID:11335769]
xref: UMLS:C4072899
is_a: HP:0030354 ! Abnormal serum interferon level

[Term]
id: HP:0030356
name: Increased serum interferon-gamma level
def: "An elevation in the concentration of interferon gamma measured in the blood circulation." [HPO:probinson, pmid:11335769]
xref: UMLS:C4072900
is_a: HP:0030355 ! Abnormal serum interferon-gamma level

[Term]
id: HP:0030357
name: Small cell lung carcinoma
def: "Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly." [HPO:probinson]
synonym: "Oat cell carcinoma of lung" EXACT []
synonym: "Oat cell lung cancer" EXACT []
synonym: "Small cell lung cancer" EXACT []
xref: MSH:D055752
xref: SNOMEDCT_US:254632001
xref: SNOMEDCT_US:254633006
xref: UMLS:C0149925
is_a: HP:0100526 ! Neoplasm of the lung

[Term]
id: HP:0030358
name: Non-small cell lung carcinoma
synonym: "Non-small cell lung cancer" EXACT []
xref: MSH:D002289
xref: SNOMEDCT_US:254637007
xref: UMLS:C0007131
is_a: HP:0100526 ! Neoplasm of the lung

[Term]
id: HP:0030359
name: Squamous cell lung carcinoma
def: "A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells." [HPO:probinson]
comment: Four subtypes of squamous cell lung carcinoma exist: (i) papillary; (ii) clear cell; (iii) small cell (distinct from small cell lung cancer); and (iv) basaloid.
xref: SNOMEDCT_US:254634000
xref: UMLS:C0149782
is_a: HP:0030358 ! Non-small cell lung carcinoma

[Term]
id: HP:0030360
name: Large cell lung carcinoma
def: "A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin." [HPO:probinson]
xref: SNOMEDCT_US:254629004
xref: UMLS:C0345958
is_a: HP:0030358 ! Non-small cell lung carcinoma

[Term]
id: HP:0030361
name: Abnormal circulating eicosanoid concentration
def: "Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid)." [HPO:probinson]
comment: The icosanoids include the prostaglandins, prostacyclins, thromboxanes, leukotrienes, and epoxyeicosatrienoic acids. Icosanoids have various roles in processes that regulate inflammation, fever, blood pressure, blood clotting, immune system function, reproductive processes and tissue growth, and the sleep/wake cycle.
synonym: "Abnormality of icosanoid metabolism" EXACT []
xref: UMLS:C4072901
is_a: HP:0011022 ! Abnormal circulating unsaturated fatty acid concentration

[Term]
id: HP:0030362
name: Reduced muscle carnitine level
def: "A reduction in the level of carnitine in muscle tissue." [HPO:probinson, pmid:8174281, pmid:8472351]
comment: Carnitine deficiency may be observed in a systemic form or be limited to skeletal muscle tissue. Carnitine levels can be measured by assays of muscle tissue (biopsy). Alternatively, 1H-NMR spectroscopy can be used for qualitative measurement of muscle carnitine levels.
xref: UMLS:C4072902
is_a: HP:0004303 ! Abnormality of muscle fibers
is_a: HP:0032243 ! Abnormal tissue metabolite concentration

[Term]
id: HP:0030363
name: Primary Caesarian section
def: "Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section." [HPO:probinson]
xref: UMLS:C4072903
is_a: HP:0011410 ! Caesarian section

[Term]
id: HP:0030364
name: Secondary Caesarian section
def: "Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth." [HPO:probinson]
xref: UMLS:C4072904
is_a: HP:0011410 ! Caesarian section

[Term]
id: HP:0030365
name: Vaginal birth after Caesarian
def: "Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally." [HPO:probinson, pmid:24104780]
xref: MSH:D016064
xref: UMLS:C0080301
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0030366
name: Delivery by Odon device
def: "The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process." [HPO:probinson, pmid:23962177]
xref: UMLS:C4072905
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0030367
name: Finger hyperphalangy
def: "Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges." []
xref: UMLS:C4072906
is_a: HP:0005918 ! Abnormal finger phalanx morphology

[Term]
id: HP:0030368
name: Hyperphalangy of the 2nd finger
def: "An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy." [HPO:probinson, pmid:25480037, pmid:6540680]
synonym: "Hyperphalangy of index finger" EXACT []
xref: UMLS:C4072907
is_a: HP:0030367 ! Finger hyperphalangy

[Term]
id: HP:0030369
name: Induced vaginal delivery
def: "Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own." [HPO:probinson]
xref: UMLS:C4072908
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0030370
name: Abnormal proportion of naive B cells
def: "A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen." [HPO:probinson]
xref: UMLS:C4072909
is_a: HP:0025539 ! Abnormal B cell subset distribution

[Term]
id: HP:0030371
name: Increased proportion of naive B cells
def: "An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen." [HPO:probinson]
xref: UMLS:C4072910
is_a: HP:0030370 ! Abnormal proportion of naive B cells

[Term]
id: HP:0030372
name: Decreased proportion of naive B cells
def: "A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen." [HPO:probinson]
xref: UMLS:C4072911
is_a: HP:0030370 ! Abnormal proportion of naive B cells

[Term]
id: HP:0030373
name: Abnormal proportion of memory B cells
def: "A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)." [HPO:probinson, pmid:15771579]
comment: Memory B cells can be defined as CD19+/CD27+ or CD20+/CD27+ cells in flow cytometry.
xref: UMLS:C4072912
is_a: HP:0025539 ! Abnormal B cell subset distribution

[Term]
id: HP:0030374
name: Decreased proportion of memory B cells
def: "A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)." [HPO:probinson]
xref: UMLS:C4072913
is_a: HP:0030373 ! Abnormal proportion of memory B cells

[Term]
id: HP:0030375
name: Increased proportion of memory B cells
def: "An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)." [HPO:probinson]
xref: UMLS:C4072914
is_a: HP:0030373 ! Abnormal proportion of memory B cells

[Term]
id: HP:0030376
name: Abnormal proportion of immature B cells
def: "A deviation from normal proportion immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)." [HPO:probinson]
synonym: "Abnormal proportion of CD19+/CD21low B cells" EXACT []
xref: UMLS:C4072915
is_a: HP:0025539 ! Abnormal B cell subset distribution

[Term]
id: HP:0030377
name: Increased proportion of immature B cells
def: "An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)." [HPO:probinson]
synonym: "Increased proportion of CD19+/CD21low B cells" EXACT []
xref: UMLS:C4072916
is_a: HP:0030376 ! Abnormal proportion of immature B cells

[Term]
id: HP:0030378
name: Decreased proportion of immature B cells
def: "A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)." [HPO:probinson]
synonym: "Decreased proportion of CD19+/CD21low B cells" EXACT []
xref: UMLS:C4072917
is_a: HP:0030376 ! Abnormal proportion of immature B cells

[Term]
id: HP:0030379
name: Abnormal proportion of transitional B cells
def: "A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells." [HPO:probinson, PMID:23731328]
synonym: "Abnormal proportion of CD19+CD38+IgM+ cells" EXACT []
xref: UMLS:C4072918
is_a: HP:0025539 ! Abnormal B cell subset distribution

[Term]
id: HP:0030380
name: Decreased proportion of transitional B cells
def: "A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells." [HPO:probinson]
synonym: "Decreased proportion of CD19+CD38+IgM+ cells" EXACT []
xref: UMLS:C4072919
is_a: HP:0030379 ! Abnormal proportion of transitional B cells

[Term]
id: HP:0030381
name: Increased proportion of transitional B cells
def: "An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells." [HPO:probinson]
synonym: "Increased proportion of CD19+CD38+IgM+ cells" EXACT []
xref: UMLS:C4072920
is_a: HP:0030379 ! Abnormal proportion of transitional B cells

[Term]
id: HP:0030383
name: Abnormal proportion of marginal zone B cells
def: "A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells." [HPO:probinson, PMID:9802980]
xref: UMLS:C4072921
is_a: HP:0030373 ! Abnormal proportion of memory B cells

[Term]
id: HP:0030384
name: Decreased proportion of marginal zone B cells
def: "A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells." [PMID:9802980]
xref: UMLS:C4072922
is_a: HP:0030383 ! Abnormal proportion of marginal zone B cells

[Term]
id: HP:0030385
name: Increased proportion of marginal zone B cells
def: "An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells." [HPO:probinson, PMID:9802980]
xref: UMLS:C4072923
is_a: HP:0030383 ! Abnormal proportion of marginal zone B cells

[Term]
id: HP:0030386
name: Abnormal proportion of class-switched memory B cells
def: "A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA." [HPO:probinson, pmid:19342988]
synonym: "Abnormal proportion of CD19+CD27+IgD- cells" EXACT []
xref: UMLS:C4072924
is_a: HP:0030373 ! Abnormal proportion of memory B cells

[Term]
id: HP:0030387
name: Increased proportion of class-switched memory B cells
def: "An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA." [HPO:probinson]
synonym: "Increased proportion of CD19+CD27+IgD- cells" EXACT []
xref: UMLS:C4073288
is_a: HP:0030386 ! Abnormal proportion of class-switched memory B cells

[Term]
id: HP:0030388
name: Decreased proportion of class-switched memory B cells
def: "A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA." [HPO:probinson]
synonym: "Decreased proportion of CD19+CD27+IgD- cells" EXACT []
xref: UMLS:C4072925
is_a: HP:0030386 ! Abnormal proportion of class-switched memory B cells

[Term]
id: HP:0030389
name: Abnormal circulating thromboxane concentration
def: "Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels." [HPO:probinson]
xref: UMLS:C4072926
is_a: HP:0030361 ! Abnormal circulating eicosanoid concentration

[Term]
id: HP:0030390
name: Reduced circulating leukotriene C4 concentration
def: "An abnormally decreased concentration of leukotriene C4 in the blood circulation." [PMID:9820300]
comment: Cysteinyl leukotrienes including LTC4 are potent lipid mediators derived from arachidonic acid in the 5 lipoxygenase pathway.
xref: UMLS:C4072927
is_a: HP:0030361 ! Abnormal circulating eicosanoid concentration

[Term]
id: HP:0030391
name: Spoken Word Recognition Deficit
def: "Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus." [HPO:probinson]
xref: UMLS:C4072928
is_a: HP:0002463 ! Language impairment

[Term]
id: HP:0030392
name: Choroid plexus carcinoma
def: "Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III." [HPO:probinson, pmid:11135453]
xref: MSH:C562943
xref: SNOMEDCT_US:88252006
xref: UMLS:C0431109
is_a: HP:0007376 ! Abnormality of the choroid plexus
is_a: HP:0100836 ! Malignant neoplasm of the central nervous system

[Term]
id: HP:0030393
name: Endolymphatic sac tumor
def: "A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin)." [pmid:24966979]
comment: Endolymphatic sac tumors (ELSTs) may arise sporadically or in von Hippel-Lindau (VHL) disease. The symptoms (hearing loss with or without tinnitus, vertigo, impairment of cranial nerve function) and the physical and neuro-otologic examination and imaging findings (computed tomography, magnetic resonance imaging) are not specific for tumors of the cerebellopontine angle (CPA). The final diagnosis can often only be reached through histopathological and immunohistochemical evaluation of the tumor specimen. The differential diagnosis in tumors of the CPA includes paraganglioma, chondroid tumor, atypical schwannoma, meningioma, and also rare entities such as aneurysm, hemangioblastoma, craniopharyngioma, and choroid plexus papilloma.
synonym: "Aggressive papillary middle ear tumor" EXACT []
synonym: "Heffner tumor" EXACT []
synonym: "Low-grade adenocarcinoma of endolymphatic sac origin" EXACT []
xref: SNOMEDCT_US:699817008
xref: UMLS:C2348239
is_a: HP:0040096 ! Neoplasm of the inner ear

[Term]
id: HP:0030394
name: Fallopian tube carcinoma
def: "Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk." [HPO:probinson, NCIT:C3867]
xref: MSH:D005185
xref: SNOMEDCT_US:276870001
xref: UMLS:C0238122
is_a: HP:0010787 ! Genital neoplasm

[Term]
id: HP:0030396
name: Abnormal platelet granule secretion
def: "Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion." [HPO:probinson, pmid:19450911]
xref: UMLS:C4072929
is_a: HP:0011869 ! Abnormal platelet function

[Term]
id: HP:0030397
name: Abnormal platelet dense granule secretion
def: "Abnormal release of dense granules from platelets." [HPO:probinson]
comment: Dense granules contain adenosine diphosphate, adenosine triphosphate, ionized calcium, histamine and serotonin.
xref: UMLS:C4072930
is_a: HP:0030396 ! Abnormal platelet granule secretion

[Term]
id: HP:0030398
name: Abnormal platelet ATP dense granule secretion
def: "Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP)." []
xref: UMLS:C4072931
is_a: HP:0030397 ! Abnormal platelet dense granule secretion

[Term]
id: HP:0030399
name: Abnormal platelet alpha granule secretion
def: "Abnormal release of alpha granule contents from platelets." [HPO:probinson]
xref: UMLS:C4072932
is_a: HP:0030396 ! Abnormal platelet granule secretion

[Term]
id: HP:0030400
name: Abnormal platelet lysosome secretion
def: "Abnormal release of lysosome contents from platelets." [HPO:probinson]
xref: UMLS:C4072933
is_a: HP:0030396 ! Abnormal platelet granule secretion

[Term]
id: HP:0030401
name: Abnormal platelet dense granule ATP/ADP ratio
def: "Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets." [HPO:probinson]
xref: UMLS:C4072934
is_a: HP:0012484 ! Abnormal dense granules

[Term]
id: HP:0030402
name: Abnormal platelet aggregation
def: "An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [HPO:probinson]
xref: UMLS:C0541767
is_a: HP:0011869 ! Abnormal platelet function

[Term]
id: HP:0030403
name: Spontaneous platelet aggregation
def: "Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation." [HPO:probinson]
xref: MSH:C566800
xref: UMLS:C1868263
is_a: HP:0030402 ! Abnormal platelet aggregation

[Term]
id: HP:0030404
name: Glucagonoma
def: "An endocrine tumor of the pancreas that secretes excessive amounts of glucagon." [HPO:probinson]
comment: The excessive glucagon secreted by a glucagonoma may lead to dermatitis (migratory necrolytic erythema), glucose intolerance, weight loss, anemia, diarrhea, and thromboembolism.
xref: MSH:D005935
xref: SNOMEDCT_US:128855009
xref: SNOMEDCT_US:16424000
xref: SNOMEDCT_US:302823005
xref: UMLS:C0017689
is_a: HP:0030405 ! Pancreatic endocrine tumor

[Term]
id: HP:0030405
name: Pancreatic endocrine tumor
def: "A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas." [HPO:probinson]
xref: MSH:D007516
xref: SNOMEDCT_US:126864006
xref: SNOMEDCT_US:128878003
xref: SNOMEDCT_US:237596009
xref: SNOMEDCT_US:399528006
xref: SNOMEDCT_US:76345009
xref: UMLS:C0242363
is_a: HP:0100634 ! Neuroendocrine neoplasm

[Term]
id: HP:0030406
name: Primary peritoneal carcinoma
def: "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson]
xref: UMLS:C1514428
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract

[Term]
id: HP:0030407
name: Pineocytoma
def: "A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I)." []
xref: MSH:D010871
xref: NCIT:C6966
xref: SNOMEDCT_US:255045009
xref: SNOMEDCT_US:89096009
xref: UMLS:C0917890
is_a: HP:0030694 ! Pineal parenchymal cell neoplasm

[Term]
id: HP:0030408
name: Pineoblastoma
alt_id: HP:0040193
def: "Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells." [HPO:probinson, PMID:21717450]
comment: Pineoblastomas are rare, malignant, pineal region lesions that account for <0.1% of all intracranial tumors. Pineoblastomas harbor a poor prognosis and can metastasize along the neuroaxis. Although they typically appear radiographically as a focal enhancing mass, pineoblastomas can be locally invasive and spread outside the pineal region through the subarachnoid space. Pineoblastomas are more common in children than in adults, and adults account for <10% of patients.
synonym: "Pinealoblastoma" EXACT []
xref: MSH:D010871
xref: SNOMEDCT_US:31671006
xref: UMLS:C0205898
is_a: HP:0030694 ! Pineal parenchymal cell neoplasm

[Term]
id: HP:0030409
name: Renal transitional cell carcinoma
def: "A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice." [HPO:probinson]
synonym: "renal TCC" EXACT []
synonym: "Renal urothelial carcinoma" EXACT [HPO:skoehler]
synonym: "Transitional renal cell carcinoma" EXACT [HPO:skoehler]
xref: http://emedicine.medscape.com/article/281484-overview
xref: SNOMEDCT_US:408642003
xref: UMLS:C1319314
is_a: HP:0009726 ! Renal neoplasm

[Term]
id: HP:0030410
name: Sebaceous gland carcinoma
def: "A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance." [HPO:probinson]
synonym: "Sebaceous carcinoma" EXACT []
xref: MSH:D018266
xref: SNOMEDCT_US:307599002
xref: SNOMEDCT_US:54734006
xref: UMLS:C0206684
is_a: HP:0012842 ! Skin appendage neoplasm

[Term]
id: HP:0030411
name: Jejunal adenocarcinoma
def: "A malignant epithelial tumor with a glandular organization that originates in the jejunum." [HPO:probinson]
xref: NCIT:C2852
xref: UMLS:C4072935
is_a: HP:0040274 ! Adenocarcinoma of the small intestine

[Term]
id: HP:0030412
name: Ileal adenocarcinoma
def: "A malignant epithelial tumor with a glandular organization that originates in the ileum." [HPO:probinson]
xref: NCIT:C2852
xref: UMLS:C4072936
is_a: HP:0040274 ! Adenocarcinoma of the small intestine

[Term]
id: HP:0030413
name: Squamous cell carcinoma of the tongue
def: "A carcinoma derived from a squamous epithelial cell of the tongue." [HPO:probinson]
comment: Squamous cell carcinoma of the tongue is often painless and may present as a non-healing ulcer that demonstrates growth over time.
xref: SNOMEDCT_US:276952000
xref: UMLS:C0349566
is_a: HP:0100648 ! Neoplasm of the tongue

[Term]
id: HP:0030414
name: Verrucous cell carcinoma of the tongue
def: "A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance." []
xref: UMLS:C4072937
is_a: HP:0030413 ! Squamous cell carcinoma of the tongue

[Term]
id: HP:0030415
name: Sarcomatoid carcinoma of the tongue
def: "Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation." [HPO:probinson, pmid:20730609]
synonym: "Spindle cell carcinoma of the tongue" EXACT []
xref: UMLS:C2018408
is_a: HP:0030413 ! Squamous cell carcinoma of the tongue

[Term]
id: HP:0030416
name: Vulvar neoplasm
def: "A tumor (abnormal growth of tissue) of the female external genital tract (vulva)." [HPO:probinson]
synonym: "Neoplasm of the vulva" EXACT []
synonym: "Tumor of the vulva" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D014846
xref: NCIT:C3262
xref: SNOMEDCT_US:126922007
xref: UMLS:C0042995
is_a: HP:0010787 ! Genital neoplasm

[Term]
id: HP:0030417
name: Squamous cell carcinoma of the vulva
def: "A cancer that originates in the sqamous cells that line the surface of the vulva." [HPO:probinson, pmid:25848321]
synonym: "Vulval squamous cell carcinoma" EXACT []
xref: SNOMEDCT_US:254895003
xref: UMLS:C0280856
is_a: HP:0030416 ! Vulvar neoplasm

[Term]
id: HP:0030418
name: Vulvar melanoma
def: "A type of vulvar cancer that originates from melanocytes of the vulva." [HPO:probinson, pmid:8723827]
comment: The first symptoms typically noticed by the patients are bleeding, pruritus, or a mass in the groin. Vulvar melanomas are mostly located at the labia minora.
xref: SNOMEDCT_US:254896002
xref: UMLS:C0241989
is_a: HP:0030416 ! Vulvar neoplasm

[Term]
id: HP:0030419
name: Bartholin gland carcinoma
def: "A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina." [HPO:probinson, pmid:25013508]
comment: Carcinomas of Bartholin's gland are rare tumors that account for less than 1% of all gynecological malignancies. Two major histological types, squamous cell carcinoma and adenocarcinoma, account for 80% to 90% of primary cases. The remainder are adenoid-cystic, transitional, or undifferentiated carcinomas.
xref: SNOMEDCT_US:276876007
xref: SNOMEDCT_US:399533005
xref: UMLS:C0349561
is_a: HP:0030416 ! Vulvar neoplasm

[Term]
id: HP:0030420
name: Vulvar adenocarcinoma
def: "An adenocarcinoma arising in the vulva." [HPO:probinson, pmid:23761517]
xref: UMLS:C1336975
is_a: HP:0030416 ! Vulvar neoplasm

[Term]
id: HP:0030421
name: Epididymal neoplasm
def: "A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens." [HPO:probinson]
xref: NCIT:C3262
xref: SNOMEDCT_US:126902008
xref: UMLS:C0346239
is_a: HP:0010785 ! Gonadal neoplasm

[Term]
id: HP:0030422
name: obsolete Papillary cystadenoma of the epididymis
is_obsolete: true

[Term]
id: HP:0030423
name: Splenic cyst
def: "A closed sac located in the spleen." [HPO:probinson, pmid:24794024]
synonym: "Cyst on spleen" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:79040006
xref: UMLS:C0272407
is_a: HP:0025408 ! Abnormal spleen morphology

[Term]
id: HP:0030424
name: Epididymal cyst
def: "A smooth, extratesticular, spherical cyst in the head of the epididymis." [HPO:probinson, pmid:14767330]
comment: Diagnosis of epididymal cyst can be confirmed by scrotal ultrasound. Patients can present with scrotal mass or pain. Epididymal cysts are usually between 3-30 mm in diameter. In some cases they can resolve spontaneously.
synonym: "Epididymal cysts" EXACT [HPO:skoehler]
xref: MSH:D013088
xref: SNOMEDCT_US:43077002
xref: SNOMEDCT_US:49263001
xref: UMLS:C0037859
is_a: HP:0009714 ! Abnormality of the epididymis

[Term]
id: HP:0030425
name: Calcified ovarian cyst
def: "A cyst of the ovary that exhibits deposition of calcium salts." [HPO:probinson]
xref: UMLS:C4072939
is_a: HP:0000138 ! Ovarian cyst

[Term]
id: HP:0030426
name: Ossifying fibroma
def: "A benign central bone tumor composed of fibrous connective tissue within which bone is formed." [HPO:probinson]
xref: MSH:D018214
xref: SNOMEDCT_US:25603007
xref: SNOMEDCT_US:302862001
xref: SNOMEDCT_US:302863006
xref: SNOMEDCT_US:80699009
xref: UMLS:C0206640
is_a: HP:0010614 ! Fibroma

[Term]
id: HP:0030427
name: Ossifying fibroma of the jaw
def: "A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed." [HPO:probinson]
comment: The mandible is most commonly affected.
xref: UMLS:C4072940
is_a: HP:0012290 ! Mouth neoplasm
is_a: HP:0030426 ! Ossifying fibroma

[Term]
id: HP:0030428
name: Cutaneous myxoma
def: "A myxoma originating in the skin." [HPO:probinson, pmid:25118746]
comment: Cutaneous myxomas are sharply demarcated nodules of the dermis or subcutis that may occur as solitary lesions or in association with Carney complex. Microscopically, cutaneous myxomas in the Carney complex have sharp circumscription, hypocellularity, abundant myxoid stroma, prominent capillaries and an occasional epithelial component.
xref: NCIT:C6577
xref: UMLS:C1333178
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0030429
name: Juvenile nasopharyngeal angiofibroma
def: "A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity." [HPO:probinson, pmid:15661706]
xref: SNOMEDCT_US:60392001
xref: SNOMEDCT_US:716590006
xref: UMLS:C1367536
is_a: HP:0012288 ! Neoplasm of head and neck

[Term]
id: HP:0030430
name: Neuroma
def: "A tumor made up of nerve cells and nerve fibers." [HPO:probinson]
synonym: "Nerve tumor" EXACT layperson [http://www.apma.org/learn/foothealth.cfm?itemnumber=987, ORCID:0000-0001-5208-3432]
synonym: "Pinched nerve" EXACT layperson [http://www.apma.org/learn/foothealth.cfm?itemnumber=987, ORCID:0000-0001-5208-3432]
xref: MSH:D009463
xref: SNOMEDCT_US:25169009
xref: SNOMEDCT_US:274089002
xref: SNOMEDCT_US:443892003
xref: SNOMEDCT_US:84116009
xref: UMLS:C0027858
xref: UMLS:C0273482
is_a: HP:0100007 ! Neoplasm of the peripheral nervous system

[Term]
id: HP:0030431
name: Osteochondroma
def: "A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone." [HPO:probinson, pmid:18271966]
synonym: "Osteocartilaginous exostoses" EXACT [https://en.wikipedia.org/wiki/osteochondroma, ORCID:0000-0001-5208-3432]
synonym: "Osteochondromas" EXACT [HPO:skoehler]
xref: MSH:D015831
xref: SNOMEDCT_US:307573009
xref: SNOMEDCT_US:443093007
xref: SNOMEDCT_US:52299001
xref: UMLS:C0029423
is_a: HP:0010622 ! Neoplasm of the skeletal system

[Term]
id: HP:0030432
name: Chondroblastoma
def: "A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells." [HPO:probinson, pmid:19387641]
comment: Chondroblastomas of bone are rare benign bone tumours, arising at the cartilaginous growth plate, representing approximately 1-2% of all bone tumors. The most common sites are the proximal humerus and the proximal tibia, but the third most common site is the proximal femur. Histologically, the tumour consists predominantly of well-defined polygonal chondroblast-type cells similar to epiphyseal chondrocytes, with large nucleoli and benign-looking nuclei that have a tendency to be multilobulate and have a continuous dense band of substance along the inner nuclear membrane, intra-cytoplasmic inclusions of glycogen and lipids, numerous mitochondria and superficial secretion vesicles arising from a well developed rough endoplasmic reticulum. There are multi-nucleated giant cells, foci of chondroid matrix, with focal calcification that may acquire a "chicken wire" appearance. Aneurysmal bone cysts are associated with chondroblastoma in 14% of cases.
xref: MSH:D002804
xref: SNOMEDCT_US:9001003
xref: UMLS:C0008441
is_a: HP:0010622 ! Neoplasm of the skeletal system

[Term]
id: HP:0030433
name: Osteoid osteoma
def: "A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone." [HPO:probinson, pmid:23329939]
xref: MSH:D010017
xref: SNOMEDCT_US:302859004
xref: SNOMEDCT_US:71666005
xref: UMLS:C0029441
is_a: HP:0100246 ! Osteoma

[Term]
id: HP:0030434
name: Pilomatrixoma
def: "Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm." [HPO:probinson, pmid:21430899]
comment: Pilomatricomas usually are asymptomatic (pain appears only with associated inflammation and ulceration); deeply seated, firm, nontender subcutaneous masses adherent to the skin but not fixed to the underlying tissue. Stretching of the skin over the tumor shows the "tent sign" with multiple facets and angles, a pathognomonic sign for pilomatricoma. In addition, pressing on one edge of the lesion causes the opposite edge to protrude from the skin like a "teeter-totter". Both these "tent sign" and "teeter-totter sign" are the most helpful clinical clues to the diagnosis of pilomatricoma.
xref: MSH:D018296
xref: SNOMEDCT_US:274901004
xref: SNOMEDCT_US:44155009
xref: UMLS:C0206711
is_a: HP:0012842 ! Skin appendage neoplasm

[Term]
id: HP:0030436
name: Fibrofolliculoma
def: "Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation." [HPO:probinson, pmid:17804924]
synonym: "Fibrofolliculomas" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:128683008
xref: SNOMEDCT_US:254699007
xref: UMLS:C0346011
is_a: HP:0008069 ! Neoplasm of the skin

[Term]
id: HP:0030437
name: Anal canal neoplasm
synonym: "Anal canal tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: NCIT:C3262
xref: SNOMEDCT_US:126850006
xref: UMLS:C0345883
is_a: HP:0004378 ! Abnormality of the anus
is_a: HP:0100834 ! Neoplasm of the large intestine

[Term]
id: HP:0030438
name: Anal canal squamous cell carcinoma
def: "A squamous cell carcinoma that originates in the anal canal." [HPO:probinson, pmid:22379406]
comment: Patients typically present with bright red bleeding, pain, and/or a palpable mass. When a clinically suspicious lesion is identified, diagnosis relies on cytologic or histologic confirmation.
xref: UMLS:C1332262
is_a: HP:0030437 ! Anal canal neoplasm

[Term]
id: HP:0030439
name: Anal canal adenocarcinoma
def: "An adenoma carcinoma that originates in the anal canal." [HPO:probinson, pmid:22379406]
comment: Differentiating true anal canal adenocarcinoma from low rectal adenocarcinoma can be challenging. Most anal canal adenocarcinomas originate from anal glands, but cases developing in chronic tracts from fistula in ano are described. Multiple factors, including infection with HPV and HIV, history of receptive anal intercourse, smoking, and immunosuppression have been identified as risk factors. Clinical features include anal pain, induration of the anal canal, or abscess formation and a palpable lump.
xref: NCIT:C2852
xref: UMLS:C1332259
is_a: HP:0030437 ! Anal canal neoplasm
is_a: HP:0040275 ! Adenocarcinoma of the large intestine

[Term]
id: HP:0030440
name: Anal margin neoplasm
def: "A tumor of the anal margin." [HPO:probinson, pmid:22379406]
comment: The anal canal is defined as the caudal part of the large intestine extending from the anorectal ring to the anal verge and is about 3 to 5 cm in length. Outside of the anal verge lies the anal margin, also referred to as the perianal skin, which commonly encompasses a radius of 5 cm. The anal verge can be identified visually as the part of the anal canal remaining closed when the buttocks are gently retracted. The upper anal canal is lined by columnar tissue that transitions into squamous epithelium at the dentate line. The dentate line, identified by the termination of the anal columns, lies 1 to 2 cm above the anal verge.
xref: UMLS:C2064234
is_a: HP:0004378 ! Abnormality of the anus

[Term]
id: HP:0030441
name: Anal margin Paget's disease
def: "An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells." [HPO:probinson, pmid:22379406]
comment: Macroscopically, anal margin Paget's disease presents as an erythematous and eczematous rash similar to benign skin conditions or other perianal diseases such as Bowen's disease, hydradenitis suppurativa, pruritus ani, or Crohn's disease.
xref: UMLS:C1332270
is_a: HP:0030440 ! Anal margin neoplasm

[Term]
id: HP:0030442
name: Anal margin squamous cell carcinoma
def: "A squamous cell carcinoma that originates in the skin of the anal margin." [HPO:probinson, pmid:22379406]
comment: Clinical presentations include pain, bleeding, palpable lump, and discharge. Typically, SCC of the anal margin appears as an ulcerated lesion with rolled everted edges. A significant number of patients are misdiagnosed with an anal fissure, fistula, eczema, or hemorrhoids; therefore a biopsy is recommended for any persistent anal margin lesion not responding to conservative therapy.
xref: SNOMEDCT_US:255084004
xref: UMLS:C1412037
is_a: HP:0030440 ! Anal margin neoplasm

[Term]
id: HP:0030443
name: Anal margin basal cell carcinoma
def: "A basal cell carcinoma that originates in the anal margin." [HPO:probinson]
xref: UMLS:C1332269
is_a: HP:0030440 ! Anal margin neoplasm

[Term]
id: HP:0030444
name: Anal margin melanoma
def: "A melanoma that originates in the anal margin." [HPO:probinson]
xref: UMLS:C4072941
is_a: HP:0030440 ! Anal margin neoplasm

[Term]
id: HP:0030445
name: Pulmonary carcinoid tumor
def: "A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma." [HPO:probinson, pmid:21043816, pmid:24179657]
synonym: "Lung carcinoid tumor" EXACT []
xref: SNOMEDCT_US:254627002
xref: UMLS:C0280089
is_a: HP:0100570 ! Carcinoid tumor

[Term]
id: HP:0030446
name: Atypical pulmonary carcinoid tumor
xref: UMLS:C4072942
is_a: HP:0030445 ! Pulmonary carcinoid tumor

[Term]
id: HP:0030447
name: Merkel cell skin cancer
def: "A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features." [HPO:probinson, pmid:16565213]
synonym: "Anaplastic carcinoma of the skin" EXACT []
synonym: "Cutaneous APUDoma" EXACT []
synonym: "Merkel cell cancer of the skin" EXACT []
synonym: "Neuroendocrine carcinoma of the skin" EXACT []
synonym: "Neuroendocrine tumor of the skin" EXACT []
synonym: "Primary small cell carcinoma of the skin" EXACT []
synonym: "Primary undifferentiated carcinoma of the skin" EXACT []
xref: MSH:D015266
xref: SNOMEDCT_US:253001006
xref: SNOMEDCT_US:254729005
xref: SNOMEDCT_US:5052009
xref: UMLS:C0007129
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0040192 ! APUdoma

[Term]
id: HP:0030448
name: Soft tissue sarcoma
def: "A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues." [HPO:probinson]
comment: Soft tissue sarcomas can be found in any part of the body but most often originate in the arms or legs. They can also be found in the trunk, head and neck area, internal organs, and in the retroperitoneum.
synonym: "Soft tissue sarcomas" EXACT [HPO:skoehler]
xref: MSH:D012509
xref: SNOMEDCT_US:2424003
xref: SNOMEDCT_US:269469005
xref: SNOMEDCT_US:424413001
xref: SNOMEDCT_US:424952003
xref: UMLS:C1261473
is_a: HP:0100242 ! Sarcoma

[Term]
id: HP:0030449
name: Therapeutic abortion
def: "Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice." [HPO:probinson]
xref: MSH:D000032
xref: SNOMEDCT_US:386641000
xref: UMLS:C0000820
is_a: HP:0001787 ! Abnormal delivery

[Term]
id: HP:0030450
name: Neuroplasm of the autonomic nervous system
def: "A tumor that arises from an element of the autonomic nervous system." []
xref: NCIT:C5112
xref: UMLS:C4072943
is_a: HP:0100007 ! Neoplasm of the peripheral nervous system

[Term]
id: HP:0030451
name: Mesenteric cyst
def: "A closed fluid filled sac originating from the mesentary." [HPO:probinson, PMID:24936122]
comment: A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimetres to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites.
xref: MSH:D008639
xref: SNOMEDCT_US:253802003
xref: SNOMEDCT_US:27970007
xref: UMLS:C0025467
is_a: HP:0100016 ! Abnormality of mesentery morphology

[Term]
id: HP:0030452
name: Chylolymphatic mesenteric cyst
def: "A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid." [HPO:probinson, pmid:19946589]
xref: UMLS:C4072944
is_a: HP:0030451 ! Mesenteric cyst

[Term]
id: HP:0030453
name: Abnormal visual electrophysiology
xref: UMLS:C4072945
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0030454
name: Abnormal electrooculogram
def: "The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation." [pmid:21298321]
synonym: "Abnormal EOG" EXACT []
xref: SNOMEDCT_US:442770004
xref: UMLS:C0159104
is_a: HP:0030453 ! Abnormal visual electrophysiology

[Term]
id: HP:0030455
name: Abnormality of pattern visual evoked potentials
xref: UMLS:C4072946
is_a: HP:0000649 ! Abnormality of visual evoked potentials

[Term]
id: HP:0030456
name: Abnormality of pattern onset/offset visual evoked potentials
synonym: "Abnormality of pattern onset/offset VEP" EXACT []
xref: UMLS:C4072947
is_a: HP:0030455 ! Abnormality of pattern visual evoked potentials

[Term]
id: HP:0030457
name: Abnormal amplitude of pattern onset/offset visual evoked potentials
synonym: "Abnormal amplitude of pattern onset/offset VEP" EXACT []
xref: UMLS:C4072948
is_a: HP:0030456 ! Abnormality of pattern onset/offset visual evoked potentials

[Term]
id: HP:0030458
name: Abnormal timing of pattern onset/offset visual evoked potentials
xref: UMLS:C4072949
is_a: HP:0030456 ! Abnormality of pattern onset/offset visual evoked potentials

[Term]
id: HP:0030460
name: Abnormal timing of pattern reversal visual evoked potentials
xref: UMLS:C4072950
is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials

[Term]
id: HP:0030461
name: Abnormal timing of flash visual evoked potentials
xref: UMLS:C4072951
is_a: HP:0007928 ! Abnormal flash visual evoked potentials

[Term]
id: HP:0030462
name: Abnormal amplitude of flash visual evoked potentials
xref: UMLS:C4072952
is_a: HP:0007928 ! Abnormal flash visual evoked potentials

[Term]
id: HP:0030463
name: Asymmetrical distribution of flash visual evoked potentials
synonym: "Crossed asymmetry of flash visual evoked potentials" EXACT []
xref: UMLS:C4072953
is_a: HP:0007928 ! Abnormal flash visual evoked potentials

[Term]
id: HP:0030464
name: Asymmetrical distribution of pattern reversal visual evoked potentials
synonym: "Crossed asymmetry of pattern reversal visual evoked potentials" EXACT []
xref: UMLS:C4072954
is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials

[Term]
id: HP:0030465
name: Undetectable light-adapted electroretinogram
def: "No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells." [PMID:25502644]
synonym: "Absent photopic (cone) responses on ERG" EXACT []
synonym: "non-detectable photopic ERG" EXACT []
xref: UMLS:C4072955
is_a: HP:0008275 ! Abnormal light-adapted electroretinogram

[Term]
id: HP:0030466
name: Abnormal full-field electroretinogram
xref: UMLS:C4072956
is_a: HP:0000512 ! Abnormal electroretinogram

[Term]
id: HP:0030467
name: Abnormal pattern electroretinogram
def: "An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light." [HPO:probinson, PMID:17522779, PMID:3076152]
xref: UMLS:C4072957
is_a: HP:0000512 ! Abnormal electroretinogram

[Term]
id: HP:0030468
name: Abnormal multifocal electroretinogram
xref: UMLS:C4072958
is_a: HP:0000512 ! Abnormal electroretinogram

[Term]
id: HP:0030469
name: Abnormal dark-adapted electroretinogram
xref: UMLS:C4072959
is_a: HP:0030466 ! Abnormal full-field electroretinogram

[Term]
id: HP:0030470
name: Abnormal dark-adapted bright flash electroretinogram
xref: UMLS:C4072960
is_a: HP:0030469 ! Abnormal dark-adapted electroretinogram

[Term]
id: HP:0030471
name: Abnormal dark-adapted dim flash electroretinogram
xref: UMLS:C4072961
is_a: HP:0030469 ! Abnormal dark-adapted electroretinogram

[Term]
id: HP:0030472
name: Abnormal light-adapted single flash electroretinogram
xref: UMLS:C4072962
is_a: HP:0008275 ! Abnormal light-adapted electroretinogram

[Term]
id: HP:0030473
name: Abnormal light-adapted flicker electroretinogram
synonym: "Abnormal light-adapted 30Hz flicker electroretinogram" EXACT []
synonym: "Abnormal light-adapted 30Hz flicker ERG" EXACT HP:0045077 []
synonym: "Abnormal light-adapted flicker electroretinogram" EXACT []
synonym: "Abnormal light-adapted flicker ERG" EXACT HP:0045077 []
xref: UMLS:C4072963
is_a: HP:0008275 ! Abnormal light-adapted electroretinogram

[Term]
id: HP:0030474
name: Undetectable dark-adapted electroretinogram
xref: UMLS:C4072964
is_a: HP:0030469 ! Abnormal dark-adapted electroretinogram

[Term]
id: HP:0030475
name: Abnormal timing of dark-adapted dim flash electroretinogram
xref: UMLS:C4072965
is_a: HP:0030471 ! Abnormal dark-adapted dim flash electroretinogram

[Term]
id: HP:0030476
name: Abnormal amplitude of dark-adapted dim flash electroretinogram
xref: UMLS:C4072966
is_a: HP:0030471 ! Abnormal dark-adapted dim flash electroretinogram

[Term]
id: HP:0030477
name: Abnormal timing of dark-adapted bright flash electroretinogram
xref: UMLS:C4072967
is_a: HP:0030470 ! Abnormal dark-adapted bright flash electroretinogram

[Term]
id: HP:0030478
name: Abnormal amplitude of dark-adapted bright flash electroretinogram
xref: UMLS:C4072968
is_a: HP:0030470 ! Abnormal dark-adapted bright flash electroretinogram

[Term]
id: HP:0030479
name: Abnormal amplitude of light-adapted flicker electroretinogram
xref: UMLS:C4072969
is_a: HP:0030473 ! Abnormal light-adapted flicker electroretinogram

[Term]
id: HP:0030480
name: Abnormal timing of light-adapted flicker electroretinogram
xref: UMLS:C4072970
is_a: HP:0030473 ! Abnormal light-adapted flicker electroretinogram

[Term]
id: HP:0030481
name: Abnormal amplitude of light-adapted single flash electroretinogram
xref: UMLS:C4072971
is_a: HP:0030472 ! Abnormal light-adapted single flash electroretinogram

[Term]
id: HP:0030482
name: Abnormal timing of light-adapted single flash electroretinogram
xref: UMLS:C4072972
is_a: HP:0030472 ! Abnormal light-adapted single flash electroretinogram

[Term]
id: HP:0030483
name: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
def: "An abnormal reduction in the amplitude of the a-wave." []
xref: UMLS:C4072973
is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretinogram

[Term]
id: HP:0030484
name: Supernormal dark-adapted bright flash electroretinogram b-wave
xref: UMLS:C4072974
is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretinogram

[Term]
id: HP:0030485
name: Abnormal amplitude of pattern electroretinogram
xref: UMLS:C4072975
is_a: HP:0030467 ! Abnormal pattern electroretinogram

[Term]
id: HP:0030486
name: Abnormal timing of pattern electroretinogram
xref: UMLS:C4072976
is_a: HP:0030467 ! Abnormal pattern electroretinogram

[Term]
id: HP:0030487
name: Abnormal P50/N95 ratio of pattern electroretinogram
xref: UMLS:C4072977
is_a: HP:0030467 ! Abnormal pattern electroretinogram

[Term]
id: HP:0030488
name: Abnormal central response of multifocal electroretinogram
xref: UMLS:C4072978
is_a: HP:0030468 ! Abnormal multifocal electroretinogram

[Term]
id: HP:0030489
name: Abnormal paracentral response of multifocal electroretinogram
xref: UMLS:C4072979
is_a: HP:0030468 ! Abnormal multifocal electroretinogram

[Term]
id: HP:0030490
name: Exudative vitreoretinopathy
xref: UMLS:C4072980
is_a: HP:0007773 ! Vitreoretinopathy

[Term]
id: HP:0030491
name: Choriocapillaris atrophy
def: "Atrophy of the capillary lamina of choroid." [HPO:probinson]
xref: UMLS:C3275758
is_a: HP:0000533 ! Chorioretinal atrophy

[Term]
id: HP:0030493
name: Abnormality of foveal pigmentation
def: "An anomaly of the pigmentation in the fovea centralis." []
xref: UMLS:C4072981
is_a: HP:0000493 ! Abnormal foveal morphology
is_a: HP:0008002 ! Abnormality of macular pigmentation

[Term]
id: HP:0030494
name: Macular microaneurysm/hemorrhage
def: "Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms)." []
xref: UMLS:C4072982
is_a: HP:0030495 ! Abnormality morphology of the macular vasculature
is_a: HP:0032416 ! Retinal microaneurysm

[Term]
id: HP:0030495
name: Abnormality morphology of the macular vasculature
def: "Any structural anomaly of the blood vessels of the macula." []
synonym: "Abnormality of macular vasculature" EXACT []
xref: UMLS:C4072983
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0030496
name: Macular exudate
def: "Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature." [ORCID:0000-0003-0986-4123]
synonym: "Macular exudates" EXACT HP:0045078 []
synonym: "Macular exudation" EXACT []
xref: UMLS:C4072984
is_a: HP:0030495 ! Abnormality morphology of the macular vasculature

[Term]
id: HP:0030497
name: Macular cotton wool spot
def: "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." [PMID:6169833]
comment: Cotton-wool spots (CWSs) are common retinal manifestations of many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome.
xref: UMLS:C4072985
is_a: HP:0030500 ! Yellow/white lesions of the macula
is_a: HP:0031606 ! Retinal cotton wool spot

[Term]
id: HP:0030498
name: Macular thickening
def: "Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging." [ORCID:0000-0003-0986-4123]
xref: UMLS:C4072986
is_a: HP:0001103 ! Abnormal macular morphology

[Term]
id: HP:0030499
name: Macular drusen
def: "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula." [HPO:probinson]
synonym: "Lipid accumulation in macula" RELATED []
xref: SNOMEDCT_US:247154004
xref: UMLS:C0677628
is_a: HP:0011510 ! Drusen
is_a: HP:0030500 ! Yellow/white lesions of the macula

[Term]
id: HP:0030500
name: Yellow/white lesions of the macula
xref: UMLS:C4072987
is_a: HP:0001103 ! Abnormal macular morphology
is_a: HP:0030506 ! Yellow/white lesions of the retina

[Term]
id: HP:0030501
name: Macular crystals
def: "Crystalline deposits in the macula." []
xref: UMLS:C4072988
is_a: HP:0030500 ! Yellow/white lesions of the macula

[Term]
id: HP:0030502
name: Retinoschisis
def: "Splitting of the neuroretinal layers of the retina." [HPO:probinson]
xref: MSH:D041441
xref: SNOMEDCT_US:44268007
xref: UMLS:C0152439
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0030503
name: Macular telangiectasia
synonym: "Juxtafoveal telangiectasia" EXACT []
synonym: "Parafoveal telangiectasia" EXACT []
xref: SNOMEDCT_US:232024000
xref: UMLS:C0339480
is_a: HP:0007763 ! Retinal telangiectasia
is_a: HP:0030495 ! Abnormality morphology of the macular vasculature

[Term]
id: HP:0030504
name: Grouped congenital hypertrophy of retinal pigment epithelium
synonym: "Bear track congenital hypertrophy of retinal pigment epithelium" EXACT []
xref: UMLS:C4072989
is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium

[Term]
id: HP:0030505
name: Nummular pigmentation of the fundus
def: "Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium." [PMID:21763485]
synonym: "Nummular pigmentation of the retina" EXACT []
xref: UMLS:C4072990
is_a: HP:0000580 ! Pigmentary retinopathy

[Term]
id: HP:0030506
name: Yellow/white lesions of the retina
xref: UMLS:C4072991
is_a: HP:0000479 ! Abnormal retinal morphology

[Term]
id: HP:0030507
name: Retinal crystals
def: "Crystalline deposits in the retina." [PMID:12498506]
comment: Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjogren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy).
xref: UMLS:C4072992
is_a: HP:0030506 ! Yellow/white lesions of the retina

[Term]
id: HP:0030508
name: Retinal cavernous hemangioma
synonym: "Retinal cavernous haemangioma" EXACT []
xref: SNOMEDCT_US:312937006
xref: UMLS:C0730304
is_a: HP:0009594 ! Retinal hamartoma

[Term]
id: HP:0030509
name: Retinal racemose hemangioma
synonym: "Retinal racemose haemangioma" EXACT []
xref: UMLS:C4072993
is_a: HP:0009594 ! Retinal hamartoma

[Term]
id: HP:0030510
name: Combined hamartoma of the retinal pigment epithelium and retina
xref: UMLS:C1862062
is_a: HP:0009594 ! Retinal hamartoma

[Term]
id: HP:0030511
name: Bradyopsia
def: "Difficulty in seeing moving objects." [pmid:25770143]
synonym: "Difficulty seeing moving objects" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:C564243
xref: SNOMEDCT_US:711163009
xref: UMLS:C1842073
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0030512
name: Difficulty adjusting to changes in luminance
xref: UMLS:C4072994
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0030513
name: Difficulty adjusting from light to dark
xref: UMLS:C4072995
is_a: HP:0030512 ! Difficulty adjusting to changes in luminance

[Term]
id: HP:0030514
name: Difficulty adjusting from dark to light
xref: UMLS:C4072996
is_a: HP:0030512 ! Difficulty adjusting to changes in luminance

[Term]
id: HP:0030515
name: Moderately reduced visual acuity
def: "Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation)." [ORCID:0000-0001-5208-3432, PMID:28779882]
synonym: "Moderate reduction in visual acuity" EXACT []
synonym: "Moderate vision loss" EXACT []
synonym: "Moderate visual impairment" EXACT layperson []
synonym: "Moderate visual loss" EXACT []
xref: SNOMEDCT_US:397542006
xref: UMLS:C1301510
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0030516
name: Homonymous hemianopia
synonym: "Homonymous hemianopsia" EXACT []
xref: MSH:D006423
xref: SNOMEDCT_US:34063005
xref: UMLS:C0271202
is_a: HP:0012377 ! Hemianopia

[Term]
id: HP:0030517
name: Heteronymous hemianopia
synonym: "Heteronymous hemianopsia" EXACT []
xref: SNOMEDCT_US:344104004
xref: SNOMEDCT_US:345121001
xref: UMLS:C0271207
is_a: HP:0012377 ! Hemianopia

[Term]
id: HP:0030518
name: Congruous homonymous hemianopia
synonym: "Congruous hemianopsia" EXACT []
xref: UMLS:C4072997
is_a: HP:0030516 ! Homonymous hemianopia

[Term]
id: HP:0030519
name: Congruous heteronymous hemianopia
xref: UMLS:C4072998
is_a: HP:0030517 ! Heteronymous hemianopia

[Term]
id: HP:0030520
name: Binasal hemianopia
xref: MSH:D006423
xref: SNOMEDCT_US:87278000
xref: UMLS:C0271208
is_a: HP:0030517 ! Heteronymous hemianopia

[Term]
id: HP:0030521
name: Bitemporal hemianopia
xref: MSH:D006423
xref: SNOMEDCT_US:61917005
xref: UMLS:C0221184
is_a: HP:0030517 ! Heteronymous hemianopia

[Term]
id: HP:0030522
name: Mild constriction of peripheral visual field
def: "A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians." [UManchester:psergouniotis]
synonym: "Mild peripheral visual field loss" EXACT []
xref: UMLS:C4072999
is_a: HP:0001133 ! Constriction of peripheral visual field

[Term]
id: HP:0030523
name: obsolete Peripheral visual field constriction with 40-50 degrees central field preserved
is_obsolete: true
replaced_by: HP:0030525

[Term]
id: HP:0030524
name: obsolete Peripheral visual field constriction with 30-39 degrees central field preserved
is_obsolete: true
replaced_by: HP:0030525

[Term]
id: HP:0030525
name: Moderate constriction of peripheral visual field
alt_id: HP:0030523
alt_id: HP:0030524
def: "Peripheral visual field constriction with 20-49 degrees binocular visual field preserved." []
synonym: "Moderate peripheral visual field loss" EXACT []
xref: UMLS:C4073002
is_a: HP:0001133 ! Constriction of peripheral visual field

[Term]
id: HP:0030526
name: Severe constriction of peripheral visual field
def: "Peripheral visual field constriction with 10-19 degrees central field preserved." []
synonym: "Severe peripheral visual field loss" EXACT []
xref: UMLS:C4073003
is_a: HP:0001133 ! Constriction of peripheral visual field

[Term]
id: HP:0030527
name: Very severe constriction of peripheral visual field
def: "Peripheral visual field constriction with <10 degrees central field preserved." []
synonym: "Very severe peripheral visual field loss" EXACT []
xref: UMLS:C4073004
is_a: HP:0001133 ! Constriction of peripheral visual field

[Term]
id: HP:0030528
name: Paracentral scotoma
xref: MSH:D012607
xref: SNOMEDCT_US:64418005
xref: UMLS:C0271197
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0030529
name: Ring scotoma
xref: MSH:D012607
xref: SNOMEDCT_US:129625005
xref: UMLS:C0438434
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0030530
name: Arcuate scotoma
synonym: "Arc-shaped blind spot" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012607
xref: SNOMEDCT_US:15462009
xref: UMLS:C0271198
xref: UMLS:C4280302
is_a: HP:0000575 ! Scotoma

[Term]
id: HP:0030531
name: Altitudinal visual field defect
xref: UMLS:C4073005
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0030532
name: Visual acuity test abnormality
xref: UMLS:C4073006
is_a: HP:0007663 ! Reduced visual acuity

[Term]
id: HP:0030533
name: Abnormal unaided visual acuity test
xref: UMLS:C4073007
is_a: HP:0030532 ! Visual acuity test abnormality

[Term]
id: HP:0030534
name: Abnormal best corrected visual acuity test
xref: UMLS:C4073008
is_a: HP:0030532 ! Visual acuity test abnormality

[Term]
id: HP:0030535
name: Abnormal pinhole visual acuity test
xref: UMLS:C4073009
is_a: HP:0030532 ! Visual acuity test abnormality

[Term]
id: HP:0030536
name: Unaided visual acuity 0.1 LogMAR
xref: UMLS:C4073010
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030537
name: Unaided visual acuity 0.2 LogMAR
xref: UMLS:C4073011
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030538
name: Unaided visual acuity 0.3 LogMAR
xref: UMLS:C4073012
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030539
name: Unaided visual acuity 0.4 LogMAR
xref: UMLS:C4073013
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030540
name: Unaided visual acuity 0.5 LogMAR
xref: UMLS:C4073014
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030541
name: Unaided visual acuity 0.6 LogMAR
xref: UMLS:C4073015
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030542
name: Unaided visual acuity 0.7 LogMAR
xref: UMLS:C4073016
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030543
name: Unaided visual acuity 0.8 LogMAR
xref: UMLS:C4073017
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030544
name: Unaided visual acuity 0.9 LogMAR
xref: UMLS:C4073018
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030545
name: Unaided visual acuity 1.0 LogMAR
xref: UMLS:C4073019
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030546
name: Unaided visual acuity 1.1 LogMAR
xref: UMLS:C4073020
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030547
name: Unaided visual acuity 1.2 LogMAR
xref: UMLS:C4073021
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030548
name: Unaided visual acuity 1.3 LogMAR
xref: UMLS:C4073022
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030549
name: Unaided visual acuity 2.0 LogMAR
xref: UMLS:C4073023
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030550
name: Unaided visual acuity 3.0 LogMAR
xref: UMLS:C4073024
is_a: HP:0030533 ! Abnormal unaided visual acuity test

[Term]
id: HP:0030551
name: Visual acuity light perception with projection
xref: UMLS:C4073025
is_a: HP:0030532 ! Visual acuity test abnormality

[Term]
id: HP:0030552
name: Visual acuity light perception without projection
xref: UMLS:C4073026
is_a: HP:0030532 ! Visual acuity test abnormality

[Term]
id: HP:0030553
name: Visual acuity no light perception
xref: SNOMEDCT_US:63063006
xref: UMLS:C0442774
is_a: HP:0030532 ! Visual acuity test abnormality

[Term]
id: HP:0030554
name: Best corrected visual acuity 0.1 LogMAR
xref: UMLS:C4073027
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030555
name: Best corrected visual acuity 0.2 LogMAR
xref: UMLS:C4073028
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030556
name: Best corrected visual acuity 0.3 LogMAR
xref: UMLS:C4073029
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030557
name: Best corrected visual acuity 0.4 LogMAR
xref: UMLS:C4073030
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030558
name: Best corrected visual acuity 0.5 LogMAR
xref: UMLS:C4073031
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030559
name: Best corrected visual acuity 0.7 LogMAR
xref: UMLS:C4073032
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030560
name: Best corrected visual acuity 0.6 LogMAR
xref: UMLS:C4073033
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030561
name: Best corrected visual acuity 0.8 LogMAR
xref: UMLS:C4073034
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030562
name: Best corrected visual acuity 0.9 LogMAR
xref: UMLS:C4073035
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030563
name: Best corrected visual acuity 1.0 LogMAR
xref: UMLS:C4073036
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030564
name: Best corrected visual acuity 1.1 LogMAR
xref: UMLS:C4073037
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030565
name: Best corrected visual acuity 1.2 LogMAR
xref: UMLS:C4073038
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030566
name: Best corrected visual acuity 1.3 LogMAR
xref: UMLS:C4073039
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030567
name: Best corrected visual acuity 2.0 LogMAR
xref: UMLS:C4073040
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030568
name: Best corrected visual acuity 3.0 LogMAR
xref: UMLS:C4073041
is_a: HP:0030534 ! Abnormal best corrected visual acuity test

[Term]
id: HP:0030569
name: Pinhole visual acuity 0.1 LogMAR
xref: UMLS:C4073042
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030570
name: Pinhole visual acuity 0.2 LogMAR
xref: UMLS:C4073043
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030571
name: Pinhole visual acuity 0.3 LogMAR
xref: UMLS:C4073044
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030572
name: Pinhole visual acuity 0.4 LogMAR
xref: UMLS:C4073045
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030573
name: Pinhole visual acuity 0.5 LogMAR
xref: UMLS:C4073046
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030574
name: Pinhole visual acuity 0.6 LogMAR
xref: UMLS:C4073047
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030575
name: Pinhole visual acuity 0.7 LogMAR
xref: UMLS:C4073048
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030576
name: Pinhole visual acuity 0.8 LogMAR
xref: UMLS:C4073049
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030577
name: Pinhole visual acuity 0.9 LogMAR
xref: UMLS:C4073050
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030578
name: Pinhole visual acuity 1.0 LogMAR
xref: UMLS:C4073051
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030579
name: Pinhole visual acuity 1.1 LogMAR
xref: UMLS:C4073052
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030580
name: Pinhole visual acuity 1.2 LogMAR
xref: UMLS:C4073053
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030581
name: Pinhole visual acuity 1.3 LogMAR
xref: UMLS:C4073054
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030582
name: Pinhole visual acuity 2.0 LogMAR
xref: UMLS:C4073055
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030583
name: Pinhole visual acuity 3.0 LogMAR
xref: UMLS:C4073056
is_a: HP:0030535 ! Abnormal pinhole visual acuity test

[Term]
id: HP:0030584
name: Color vision test abnormality
xref: UMLS:C4073057
is_a: HP:0000551 ! Color vision defect

[Term]
id: HP:0030585
name: Red desaturation
xref: UMLS:C4073058
is_a: HP:0030584 ! Color vision test abnormality

[Term]
id: HP:0030586
name: Abnormal Ishihara plate test
xref: UMLS:C4073059
is_a: HP:0030584 ! Color vision test abnormality

[Term]
id: HP:0030587
name: Abnormal Hardy-Rand-Rittler plate test
xref: UMLS:C4073060
is_a: HP:0030584 ! Color vision test abnormality

[Term]
id: HP:0030588
name: Abnormal visual field test
def: "Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field." []
xref: UMLS:C0854021
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0030589
name: Abnormal confrontational visual field test
xref: UMLS:C4073061
is_a: HP:0030588 ! Abnormal visual field test

[Term]
id: HP:0030590
name: Abnormal Amsler grid test
xref: UMLS:C4073062
is_a: HP:0030588 ! Abnormal visual field test

[Term]
id: HP:0030591
name: Abnormal kinetic perimetry test
xref: UMLS:C4073063
is_a: HP:0030588 ! Abnormal visual field test

[Term]
id: HP:0030592
name: Abnormal static perimetry test
xref: UMLS:C4073064
is_a: HP:0030588 ! Abnormal visual field test

[Term]
id: HP:0030593
name: Abnormal manual kinetic perimetry test
xref: UMLS:C4073065
is_a: HP:0030591 ! Abnormal kinetic perimetry test

[Term]
id: HP:0030594
name: Abnormal automated kinetic perimetry test
xref: UMLS:C4073066
is_a: HP:0030591 ! Abnormal kinetic perimetry test

[Term]
id: HP:0030595
name: Abnormal static automated perimetry test
xref: UMLS:C4073067
is_a: HP:0030592 ! Abnormal static perimetry test

[Term]
id: HP:0030596
name: Abnormal Humphrey SITA 30-2 perimetry test
xref: UMLS:C4073068
is_a: HP:0030595 ! Abnormal static automated perimetry test

[Term]
id: HP:0030597
name: Abnormal Humphrey SITA 24-2 perimetry test
xref: UMLS:C4073069
is_a: HP:0030595 ! Abnormal static automated perimetry test

[Term]
id: HP:0030598
name: Abnormal Humphrey SITA 10-2 perimetry test
xref: UMLS:C4073070
is_a: HP:0030595 ! Abnormal static automated perimetry test

[Term]
id: HP:0030599
name: Abnormal Estermann grid perimetry test
xref: UMLS:C4073071
is_a: HP:0030595 ! Abnormal static automated perimetry test

[Term]
id: HP:0030601
name: Abnormal posterior segment imaging
xref: UMLS:C4073072
is_a: HP:0004329 ! Abnormal posterior eye segment morphology

[Term]
id: HP:0030602
name: Abnormal fundus autofluorescence imaging
def: "Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference." [PMID:27847630]
comment: Fundus autofluorescence imagine is used for evaluating age related macular degeneration, macular dystrophies, retinitis pigmentosa, white dot syndromes, retinal drug toxicities, and various other retinal disorders.
xref: UMLS:C4073073
is_a: HP:0030601 ! Abnormal posterior segment imaging

[Term]
id: HP:0030603
name: Abnormal optical coherence tomography
xref: UMLS:C3665728
is_a: HP:0030601 ! Abnormal posterior segment imaging

[Term]
id: HP:0030604
name: Abnormal fundus fluorescein angiography
def: "An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation." []
xref: UMLS:C4073074
is_a: HP:0030601 ! Abnormal posterior segment imaging

[Term]
id: HP:0030605
name: Abnormal indocyanine green angiography
xref: UMLS:C4073075
is_a: HP:0030601 ! Abnormal posterior segment imaging

[Term]
id: HP:0030606
name: Abnormal OCT-measured macular thickness
xref: UMLS:C4073076
is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT

[Term]
id: HP:0030607
name: Reduced OCT-measured macular thickness
xref: UMLS:C4073077
is_a: HP:0030606 ! Abnormal OCT-measured macular thickness

[Term]
id: HP:0030608
name: Increased OCT-measured macular thickness
xref: UMLS:C4073078
is_a: HP:0030606 ! Abnormal OCT-measured macular thickness

[Term]
id: HP:0030609
name: Photoreceptor layer loss on macular OCT
def: "Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography." [HPO:probinson]
xref: UMLS:C4073079
is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT

[Term]
id: HP:0030610
name: Photoreceptor outer segment loss on macular OCT
xref: UMLS:C4073080
is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT

[Term]
id: HP:0030611
name: Retinal pigment epithelial loss on macular OCT
xref: UMLS:C4073081
is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT

[Term]
id: HP:0030612
name: Abnormal retinal morphology on macular OCT
xref: UMLS:C4073082
is_a: HP:0030603 ! Abnormal optical coherence tomography

[Term]
id: HP:0030613
name: Abnormal foveal morphology on macular OCT
xref: UMLS:C4073083
is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT

[Term]
id: HP:0030614
name: Foveal photoreceptor layer loss on macular OCT
xref: UMLS:C4073084
is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT

[Term]
id: HP:0030615
name: Foveal photoreceptor outer segment loss on macular OCT
xref: UMLS:C4073085
is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT

[Term]
id: HP:0030616
name: Foveal retinal pigment epithelial loss on macular OCT
xref: UMLS:C4073086
is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT

[Term]
id: HP:0030617
name: Abnormal OCT-measured foveal thickness
xref: UMLS:C4073087
is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT

[Term]
id: HP:0030618
name: Increased OCT-measured foveal thickness
xref: UMLS:C4073088
is_a: HP:0030617 ! Abnormal OCT-measured foveal thickness

[Term]
id: HP:0030619
name: Reduced OCT-measured foveal thickness
xref: UMLS:C4073089
is_a: HP:0030617 ! Abnormal OCT-measured foveal thickness

[Term]
id: HP:0030620
name: Inner retinal layer loss on macular OCT
xref: UMLS:C4073090
is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT

[Term]
id: HP:0030621
name: Foveal inner retinal layer loss on macular OCT
xref: UMLS:C4073091
is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT

[Term]
id: HP:0030622
name: Abnormal foveal pit on macular OCT
xref: UMLS:C4073092
is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT

[Term]
id: HP:0030623
name: Intraretinal hyporeflective spaces on macular OCT
xref: UMLS:C4073093
is_a: HP:0030625 ! Hyporeflective spaces on macular OCT

[Term]
id: HP:0030624
name: Subretinal hyporeflective spaces on macular OCT
xref: UMLS:C4073094
is_a: HP:0030625 ! Hyporeflective spaces on macular OCT

[Term]
id: HP:0030625
name: Hyporeflective spaces on macular OCT
xref: UMLS:C4073095
is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT

[Term]
id: HP:0030626
name: Foveal intraretinal hyporeflective spaces on macular OCT
xref: UMLS:C4073096
is_a: HP:0030627 ! Foveal hyporeflective spaces on macular OCT

[Term]
id: HP:0030627
name: Foveal hyporeflective spaces on macular OCT
xref: UMLS:C4073097
is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT

[Term]
id: HP:0030628
name: Foveal subretinal hyporeflective spaces on macular OCT
xref: UMLS:C4073098
is_a: HP:0030627 ! Foveal hyporeflective spaces on macular OCT

[Term]
id: HP:0030629
name: Perifoveal ring of hyperautofluorescence
xref: UMLS:C4073099
is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging

[Term]
id: HP:0030630
name: Irregular central macular autofluorescence
xref: UMLS:C4073100
is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging

[Term]
id: HP:0030631
name: Hyperautofluorescent macular lesion
def: "Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging." [PMID:27847630]
comment: A large portion of hyper-autofluorescent lesions results from alterations in lipofuscin metabolism. Accumulation of lipofuscin in RPE cells, accumulation of bisretinoids in photoreceptor outer segments, and photooxidation of bisretinoids in lipofuscin can all contribute to enhanced autofluorescence.
xref: UMLS:C4073101
is_a: HP:0025158 ! Hyperautofluorescent retinal lesion

[Term]
id: HP:0030632
name: Hypoautofluorescent macular lesion
def: "Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging." [PMID:27847630]
synonym: "Hypo-autofluorescent macular lesion" EXACT []
xref: UMLS:C4073102
is_a: HP:0025159 ! Hypoautofluorescent retinal lesion

[Term]
id: HP:0030633
name: Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence
xref: UMLS:C4073103
is_a: HP:0030629 ! Perifoveal ring of hyperautofluorescence

[Term]
id: HP:0030634
name: Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence
xref: UMLS:C4073104
is_a: HP:0030629 ! Perifoveal ring of hyperautofluorescence

[Term]
id: HP:0030635
name: Retinal dystrophy with early macular involvement
xref: UMLS:C4049066
is_a: HP:0000556 ! Retinal dystrophy

[Term]
id: HP:0030636
name: Occult macular dystrophy
def: "Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities." [ORCID:0000-0003-0986-4123]
is_a: HP:0007754 ! Macular dystrophy

[Term]
id: HP:0030637
name: Congenital stationary cone dysfunction
def: "Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia." [UManchester:psergouniotis]
synonym: "Cone dysfunction" EXACT []
synonym: "Cone dysfunction syndrome" EXACT []
xref: UMLS:C0543968
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0030638
name: Congenital stationary night blindness with normal fundus
xref: UMLS:C4073105
is_a: HP:0007642 ! Congenital stationary night blindness

[Term]
id: HP:0030639
name: Congenital stationary night blindness with abnormal fundus
xref: UMLS:C4073106
is_a: HP:0007642 ! Congenital stationary night blindness

[Term]
id: HP:0030640
name: Complete congenital stationary night blindness
xref: UMLS:C4048798
is_a: HP:0030638 ! Congenital stationary night blindness with normal fundus

[Term]
id: HP:0030641
name: Incomplete congenital stationary night blindness
xref: UMLS:C4073107
is_a: HP:0030638 ! Congenital stationary night blindness with normal fundus

[Term]
id: HP:0030642
name: Fundus albipunctatus
xref: MSH:C562733
xref: SNOMEDCT_US:68222009
xref: UMLS:C0311338
is_a: HP:0012045 ! Retinal flecks
is_a: HP:0030639 ! Congenital stationary night blindness with abnormal fundus

[Term]
id: HP:0030643
name: Vitelliform-like retinal lesions
xref: UMLS:C4073108
is_a: HP:0030506 ! Yellow/white lesions of the retina

[Term]
id: HP:0030644
name: Blind-spot enlargment
synonym: "Blind spot enlargment" EXACT []
xref: UMLS:C4073109
is_a: HP:0001123 ! Visual field defect

[Term]
id: HP:0030645
name: Central
def: "Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure." []
xref: SNOMEDCT_US:26216008
xref: UMLS:C0205099
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0030646
name: Peripheral
xref: SNOMEDCT_US:14414005
xref: UMLS:C0205100
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0030647
name: Paracentral
xref: UMLS:C4073110
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0030648
name: Midperipheral
synonym: "Mid-peripheral" EXACT []
xref: UMLS:C4073111
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0030649
name: Pericentral
xref: UMLS:C4073112
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0030650
name: Focal
xref: SNOMEDCT_US:87017008
xref: UMLS:C0205234
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0030651
name: Multifocal
xref: SNOMEDCT_US:524008
xref: UMLS:C0205292
is_a: HP:0012836 ! Spatial pattern

[Term]
id: HP:0030652
name: Vitreous haze
def: "Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation." [HPO:probinson, PMID:20719302]
xref: UMLS:C4073113
is_a: HP:0011531 ! Vitritis

[Term]
id: HP:0030654
name: Umbilical cord cyst
def: "Any cystic lesion associated with the umbilical cord." [PMID:10206815, PMID:12666213]
comment: Umbilical cord cysts can be single or multiple. Most usually, a solitary umbilical cyst is observed. They can be classified as (i) true cysts if they have an epithelial lining (allentoic cyst or omphalomesenteric duct cyst) or false cysts if they do not have an epithelial lining (umbilical cord pseudocyst).
xref: UMLS:C4073114
is_a: HP:0010881 ! Abnormality of the umbilical cord

[Term]
id: HP:0030655
name: Umbilical cord knot
def: "An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord." [PMID:25184085]
comment: When the true knot remains tight, it may impede the circulation of the fetus and may result to fetal death in utero especially in labor.
xref: SNOMEDCT_US:237309005
xref: UMLS:C0344363
is_a: HP:0010881 ! Abnormality of the umbilical cord
created_by: UToronto:chum

[Term]
id: HP:0030656
name: Umbilical vein varix
def: "Focal dilation of the umbilical vein." []
xref: UMLS:C4073115
is_a: HP:0010881 ! Abnormality of the umbilical cord
created_by: UToronto:chum

[Term]
id: HP:0030657
name: Umbilical cord hematoma
def: "Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels." []
synonym: "Umbilical cord haematoma" EXACT []
xref: SNOMEDCT_US:86256001
xref: UMLS:C0269855
is_a: HP:0010881 ! Abnormality of the umbilical cord
created_by: UToronto:chum

[Term]
id: HP:0030658
name: Marginal umbilical cord insertion
def: "Insertion of the umbilical cord within 2 cm from the placental edge." [PMID:26366000]
comment: Marginal cord insertion has an ncidence of about 7 percent of births. It is associated with intrauterine growth retardation, preterm labor and development of velamentous cord insertion.
synonym: "Marginal cord insertion" EXACT []
xref: SNOMEDCT_US:51519001
xref: UMLS:C0266788
is_a: HP:0011418 ! Abnormal insertion of umbilical cord
created_by: UToronto:chum

[Term]
id: HP:0030659
name: Velamentous cord insertion
def: "Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta." [PMID:26366000]
comment: Velamentous cord insertion and an incidence of 1.1 percent of singleton births, and 8.7 to 16 percent of twin births.
xref: SNOMEDCT_US:77278008
xref: UMLS:C0266789
is_a: HP:0011418 ! Abnormal insertion of umbilical cord
created_by: UToronto:chum

[Term]
id: HP:0030660
name: Furcate cord insertion
def: "Branching of the umbilical cord before its insertion into the placenta." []
xref: UMLS:C4073116
is_a: HP:0011418 ! Abnormal insertion of umbilical cord
created_by: UToronto:chum

[Term]
id: HP:0030661
name: Vitreous snowballs
def: "Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery." [PMID:20029143]
comment: Vitreous snowballs can be observed in intermediate uveitis.
xref: SNOMEDCT_US:417393008
xref: UMLS:C1563272
is_a: HP:0011531 ! Vitritis
created_by: ORCID:0000-0003-0986-4123

[Term]
id: HP:0030662
name: Vitreous inflammatory cells
def: "The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous." []
comment: Normally, there are no leukocytes in the vitreous as this is an immune-privileged site. If the blood-retinal barrier is disrupted, then leukocytes gain access to the vitreous. Vitreous inflammatory cells can be measured by flow cytometry of vitreous fluid.
xref: UMLS:C4073117
is_a: HP:0011531 ! Vitritis
created_by: ORCID:0000-0003-0986-4123

[Term]
id: HP:0030663
name: Optically empty vitreous
def: "Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity." [PMID:15557460, PMID:7867814]
xref: UMLS:C4073118
is_a: HP:0004327 ! Abnormal vitreous humor morphology
created_by: ORCID:0000-0003-0986-4123

[Term]
id: HP:0030664
name: Beevor's sign
def: "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus." [PMID:2146943]
comment: Beevor's sign is said to be characteristic of a spinal cord lesion at the T10 level, but is also described inter alia in amyotrophic lateral sclerosis and in facioscapulohumeral muscular dystrophy.
xref: SNOMEDCT_US:61282003
xref: UMLS:C0231616
is_a: HP:0009023 ! Abdominal wall muscle weakness
created_by: HPO:probinson

[Term]
id: HP:0030665
name: Rubral tremor
def: "Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements." [PMID:6568936]
comment: Rubral tremor can be observed with midbrain injury and probably results from combined lesions of the superior cerebellar peduncle, substantia nigra, and red nucleus with interruption of the outflow pathway from the cerebellum to the motor thalamus. This tremor is present at rest but tends to be slower (3 to 5 Hz) than typical Parkinson tremor (5 to 7 Hz). It also persists unchanged or even increases with postural changes or goal-directed activity.
synonym: "Holmes' tremor" EXACT []
xref: MSH:D001259
xref: UMLS:C0750940
is_a: HP:0001337 ! Tremor
created_by: Phenotips:chum

[Term]
id: HP:0030666
name: Retinal neovascularization
def: "In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment." [PMID:23329331]
comment: When traction retinal detachment involves the macula, which is responsible for reading and driving vision, severe visual loss occurs.
synonym: "Retinal neovascularisation" EXACT []
xref: MSH:D015861
xref: SNOMEDCT_US:61267008
xref: UMLS:C0035320
is_a: HP:0008046 ! Abnormal retinal vascular morphology
created_by: HPO:probinson

[Term]
id: HP:0030667
name: Peripheral retinal neovascularization
def: "A type of retinal neovascularization that affects the periphery of the retina." [HPO:probinson, PMID:22076700]
xref: SNOMEDCT_US:247100001
xref: UMLS:C0474355
is_a: HP:0030666 ! Retinal neovascularization
created_by: HPO:probinson

[Term]
id: HP:0030668
name: Periorbital dermoid cyst
def: "A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts." []
comment: A periorbital dermoid cyst may present as a subcutaneous mass at the lateral aspect of an eyelid.
xref: UMLS:C4073119
is_a: HP:0001144 ! Orbital cyst

[Term]
id: HP:0030669
name: Abnormal ocular adnexa morphology
def: "A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva." []
xref: UMLS:C4073120
is_a: HP:0032039 ! Abnormality of the ocular adnexa

[Term]
id: HP:0030670
name: Hamartoma of the orbital region
def: "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region." []
xref: UMLS:C4073121
is_a: HP:0000315 ! Abnormality of the orbital region

[Term]
id: HP:0030671
name: Abnormal common tendinous ring morphology
def: "Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles." [HPO:probinson]
synonym: "Abnormality of the common tendinous ring" EXACT []
xref: UMLS:C4073122
is_a: HP:0030669 ! Abnormal ocular adnexa morphology
created_by: ORCID:0000-0003-0986-4123

[Term]
id: HP:0030672
name: Asteroid hyalosis
def: "The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits." []
comment: Asteroid hyalosis is a degenerative process.
xref: SNOMEDCT_US:95800001
xref: UMLS:C0521770
is_a: HP:0004327 ! Abnormal vitreous humor morphology
created_by: ORCID:0000-0003-0986-4123

[Term]
id: HP:0030673
name: Erosive vitreoretinopathy
def: "A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels." [PMID:8152765]
xref: MSH:C536075
xref: SNOMEDCT_US:232064001
xref: UMLS:C1840452
is_a: HP:0007773 ! Vitreoretinopathy
created_by: ORCID:0000-0003-0986-4123

[Term]
id: HP:0030674
name: Antenatal onset
def: "Onset prior to birth." [HPO:probinson]
xref: UMLS:C2673646
is_a: HP:0003674 ! Onset

[Term]
id: HP:0030675
name: Contracture of proximal interphalangeal joints of 2nd-5th fingers
def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue." []
xref: UMLS:C4073123
is_a: HP:0001215 ! Camptodactyly of 2nd-5th fingers
created_by: NIH:jdavis

[Term]
id: HP:0030676
name: Satyr ear
def: "Sharp pointed superior portion of the ear, with variable overfolding of the helix." [PMID:19152421]
comment: The satyr ear appears to have an abnormally small upper-lateral portion. More extensive underdevelopment continuing down to and including the lobe produces a more extreme anomaly that, unfortunately, has been called Devil ear.
synonym: "Devil ear" EXACT []
xref: UMLS:C4048833
is_a: HP:0000377 ! Abnormality of the pinna
created_by: HPO:skoehler

[Term]
id: HP:0030677
name: Mozart ear
def: "A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus." [PMID:21587051]
xref: UMLS:C4073124
is_a: HP:0000377 ! Abnormality of the pinna
created_by: HPO:skoehler

[Term]
id: HP:0030679
name: Ash-leaf spot
def: "A hypopigmented spot in the shape of a leaf from the mountain ash tree." [HPO:probinson, PMID:23761491, PMID:9637809]
comment: Wood's light is a blue light with an emission peak of 360 nm. The blue end of visible light is absorbed by epidermal pigmentation. If there is no epidermal pigmentation in a site, the area will appear nonpigmented as compared with the surrounding skin. Minimally visible hypopigmented spots are more easily visualized with the Wood's lamp. Ash-leaf spots are only one variety of hypopigmented macules present on the skin of patients who have tuberous sclerosis.
xref: UMLS:C4073125
is_a: HP:0009719 ! Hypomelanotic macule

[Term]
id: HP:0030680
name: Abnormality of cardiovascular system morphology
alt_id: HP:0001632
alt_id: HP:0002564
alt_id: HP:0002565
def: "Any structural anomaly of the heart and great vessels." []
synonym: "Cardiovascular malformations" EXACT []
synonym: "Heart defect" BROAD layperson []
xref: UMLS:C4049796
is_a: HP:0001626 ! Abnormality of the cardiovascular system

[Term]
id: HP:0030681
name: Abnormal morphology of myocardial trabeculae
def: "Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae)." []
xref: UMLS:C4073289
is_a: HP:0001637 ! Abnormal myocardium morphology

[Term]
id: HP:0030682
name: Left ventricular noncompaction
def: "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708]
xref: UMLS:C1960469
is_a: HP:0031192 ! Abnormal morphology of left ventricular trabeculae

[Term]
id: HP:0030683
name: Vaginitis
def: "Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge." []
comment: The most common infectious causes of vaginitis are bacterial vaginosis, vulvovaginal candidiasis, and trichomoniasis. Physicians traditionally diagnose vaginitis using the combination of symptoms, physical examination, pH of vaginal fluid, microscopy, and the whiff test.
synonym: "Vulvovaginitis" RELATED []
xref: MSH:D014627
xref: SNOMEDCT_US:30800001
xref: UMLS:C0042267
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0030684
name: Abnormal adiponectin level
def: "A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism." [HPO:probinson, PMID:26221520]
comment: Lower circulating adiponectin levels is associated with obesity and negatively correlated with insulin resistance. Adiponectin may exert antidiabetic, anti-atherogenic and anti-inflammatory activities in metabolic diseases.
xref: UMLS:C4073126
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0030685
name: Decreased adiponectin level
def: "A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue." [HPO:probinson]
xref: UMLS:C4073127
is_a: HP:0030684 ! Abnormal adiponectin level

[Term]
id: HP:0030686
name: Increased adiponectin level
def: "An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue." []
xref: UMLS:C4073128
is_a: HP:0030684 ! Abnormal adiponectin level

[Term]
id: HP:0030687
name: Abnormal glucagon level
def: "A deviation from the normal concentration of glucagon in the blood circulation." [HPO:probinson]
comment: Glucagon is a 29-amino acid polypeptide that is manufactured by the alpha cells of the pancreatic islets. It plays a key role in glucose counterregulation in response to hypoglycemia. Hypoglycemia is normally a powerful stimulator of glucagon secretion.
xref: UMLS:C4073129
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0030688
name: Increased glucagon level
def: "An elevated concentration of glucagon in the blood circulation." []
xref: SNOMEDCT_US:131106002
xref: UMLS:C1295677
is_a: HP:0030687 ! Abnormal glucagon level

[Term]
id: HP:0030689
name: Decreased glucagon level
def: "A reduced concentration of glucagon in the blood circulation." []
xref: SNOMEDCT_US:131107006
xref: UMLS:C1295678
is_a: HP:0030687 ! Abnormal glucagon level

[Term]
id: HP:0030690
name: Gingival cleft
def: "A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla." []
xref: SNOMEDCT_US:109622003
xref: UMLS:C0426489
is_a: HP:0000168 ! Abnormality of the gingiva

[Term]
id: HP:0030691
name: Divergence nystagmus
comment: This is a rare condition that may be related to posterior foass abnormalities and can occur with spinocerebellar degeneration.
synonym: "A condition in which both eyes beat outward simultaneously." EXACT []
xref: UMLS:C4073130
is_a: HP:0000639 ! Nystagmus

[Term]
id: HP:0030692
name: Brain neoplasm
def: "A benign or malignant neoplasm that arises from or metastasizes to the brain." []
synonym: "Brain tumor" EXACT []
synonym: "Brain tumour" EXACT []
xref: MSH:D001932
xref: NCIT:C2907
xref: SNOMEDCT_US:126952004
xref: SNOMEDCT_US:254935002
xref: UMLS:C0006118
is_a: HP:0100006 ! Neoplasm of the central nervous system

[Term]
id: HP:0030693
name: Supratentorial neoplasm
def: "A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli." []
comment: This represents a group of related tumours ranging from the relatively benign to the highly malignant.
synonym: "Pineal parenchymal tumor" EXACT []
synonym: "Pineal parenchymal tumour" EXACT []
xref: MSH:D010871
xref: MSH:D015173
xref: NCIT:C3328
xref: SNOMEDCT_US:127026004
xref: SNOMEDCT_US:359619007
xref: SNOMEDCT_US:47598005
xref: UMLS:C0031941
xref: UMLS:C0038874
is_a: HP:0030692 ! Brain neoplasm

[Term]
id: HP:0030694
name: Pineal parenchymal cell neoplasm
xref: MSH:D010871
xref: SNOMEDCT_US:127026004
xref: SNOMEDCT_US:359619007
xref: SNOMEDCT_US:47598005
xref: UMLS:C0031941
is_a: HP:0010799 ! Pinealoma

[Term]
id: HP:0030706
name: Ranula
def: "A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location." [PMID:23291329, UToronto:chum]
synonym: "Sublingual cyst" EXACT []
synonym: "Sublingual ptyalocele" EXACT []
xref: MSH:D011900
xref: SNOMEDCT_US:14919007
xref: UMLS:C2242813
is_a: HP:0010286 ! Abnormal salivary gland morphology

[Term]
id: HP:0030707
name: Unilateral lung agenesis
def: "Lack of development of one lung." []
synonym: "Unilateral pulmonary agenesis" EXACT [UToronto:chum]
xref: MSH:C562992
xref: UMLS:C4082952
is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs

[Term]
id: HP:0030708
name: Myeloschisis
def: "The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane." [PMID:20885122, UToronto:chum]
comment: Myeloschisis is a cleft spinal cord arising from a failure of neural tube closure. The placode is defined as a plate of embryonic epithelial cells constituting a primordial cell group from which the spinal cord arises and is often seen in a myelomeningocele. In a myelomeningocele, an exposed placode is often a myeloschisis. In other words, a myeloschisis is a collapsed myelomeningocele. When the placode in the myelomeningocele sac is a cleft spinal cord, this anomaly is classified as myeloschisis rather than myelomeningocele.
xref: SNOMEDCT_US:360530005
xref: UMLS:C0266507
is_a: HP:0002475 ! Myelomeningocele

[Term]
id: HP:0030709
name: Myelocystocele
def: "Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst." [PMID:9514174, UToronto:chum]
comment: Localized dilatation of the central canal of the spinal cord which produces a fluid-filled sac or diverticulum which then protrudes through the cord and the defective dorsal dura between the posterior parts of the vertebra.
xref: MSH:D008591
xref: SNOMEDCT_US:203994003
xref: SNOMEDCT_US:414667000
xref: UMLS:C0025312
is_a: HP:0002196 ! Myelopathy

[Term]
id: HP:0030710
name: Lipomeningocele
def: "A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life." [UToronto:chum]
xref: SNOMEDCT_US:253120005
xref: UMLS:C0431344
is_a: HP:0002435 ! Meningocele

[Term]
id: HP:0030711
name: Hydrocolpos
def: "Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction." [UToronto:chum]
comment: This term is distinct from Hydrometrocolpos (HP:0030010), which indicates additional uterine dilation.
xref: MSH:D052202
xref: UMLS:C1399870
is_a: HP:0000142 ! Abnormal vagina morphology

[Term]
id: HP:0030712
name: Uterine synechiae
def: "Adhesions or scar tissue that form inside the cavity of the uterus." [UToronto:chum]
comment: Asherman syndrome is a condition characterized by formation of intrauterine adhesions and results from injury to the endometrium. Asherman syndrome is often associated with infertility.
synonym: "Asherman syndrome" RELATED []
xref: MSH:D006175
xref: SNOMEDCT_US:48236007
xref: UMLS:C0156372
is_a: HP:0031105 ! Abnormal uterus morphology

[Term]
id: HP:0030713
name: Vein of Galen aneurysmal malformation
def: "Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation." [UToronto:chum]
synonym: "Median prosencephalic arteriovenous fistula" EXACT []
synonym: "Vein of Galen aneurysm" EXACT []
synonym: "Vein of Galen malformation" EXACT []
xref: MSH:C536535
xref: SNOMEDCT_US:253194008
xref: UMLS:C0431420
is_a: HP:0012480 ! Abnormality of cerebral veins

[Term]
id: HP:0030714
name: Subchorionic thrombohematoma
def: "A large maternal clot that separates the chorionic plate from the villous chorion." [PMID:11125254, UToronto:chum]
synonym: "Breus' mole" EXACT []
xref: UMLS:C1390676
is_a: HP:0100767 ! Abnormality of the placenta

[Term]
id: HP:0030715
name: Bronchial atresia
def: "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis." [UToronto:chum]
synonym: "Congenital bronchial atresia" EXACT []
xref: SNOMEDCT_US:50513008
xref: UMLS:C0265776
is_a: HP:0025426 ! Abnormal bronchus morphology

[Term]
id: HP:0030716
name: Acrania
def: "Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly." [UToronto:chum]
xref: MSH:D009436
xref: SNOMEDCT_US:203923004
xref: UMLS:C0702169
is_a: HP:0002648 ! Abnormality of calvarial morphology

[Term]
id: HP:0030717
name: Meconium peritonitis
def: "Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications." [PMID:3317498, UToronto:chum]
xref: SNOMEDCT_US:57341009
xref: UMLS:C0270250
is_a: HP:0002586 ! Peritonitis

[Term]
id: HP:0030718
name: Right atrial enlargement
def: "Increase in size of the right atrium." [HPO:probinson]
comment: This feature can be appreciated on chext radiography, MRI, or CT.
synonym: "Dilated right atrium" EXACT []
synonym: "Enlarged heart right atrium" EXACT []
synonym: "Right atrial dilatation" EXACT []
xref: Fyler:1771
xref: Fyler:2859
xref: SNOMEDCT_US:67751000119106
xref: UMLS:C0748427
is_a: HP:0025580 ! Abnormal right atrium morphology

[Term]
id: HP:0030719
name: Unguarded tricuspid valve
def: "A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue." [PMID:14246338, UToronto:chum]
synonym: "Rudimentary tricuspid valve leaflets" EXACT []
synonym: "Unguarded tricuspid valve orifice" EXACT []
xref: SNOMEDCT_US:253381001
xref: UMLS:C0344745
is_a: HP:0011662 ! Tricuspid atresia

[Term]
id: HP:0030720
name: Subchorionic septal cyst
def: "Cyst on the surface of the placenta consisting of amnion and chorion." [UToronto:chum]
xref: UMLS:C4280801
is_a: HP:0100767 ! Abnormality of the placenta

[Term]
id: HP:0030721
name: Tetraphocomelia
def: "Phocomelia involving all four extremities." [UToronto:chum]
xref: UMLS:C1849370
is_a: HP:0009829 ! Phocomelia

[Term]
id: HP:0030722
name: Ectopic liver
def: "Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter." [HPO:probinson, PMID:11988792, PMID:637502]
comment: Ectopic liver tissue can occur in several different organs, but the gallbladder is the commonest site of origin.
xref: SNOMEDCT_US:253813000
xref: UMLS:C0431603
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0030723
name: Congenital megalourethra
def: "Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa." [PMID:20981865, UToronto:chum]
xref: UMLS:C4280800
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0030724
name: Central nervous system cyst
def: "A fluid-filled sac (cyst) located within the central nervous system." [HPO:probinson, PMID:11593239, PMID:24455569]
comment: Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes.
synonym: "CNS cyst" EXACT HP:0045077 []
synonym: "Cyst of the central nervous system" EXACT []
xref: MSH:D020863
xref: SNOMEDCT_US:277333006
xref: UMLS:C0349606
is_a: HP:0002011 ! Morphological abnormality of the central nervous system

[Term]
id: HP:0030725
name: Neurenteric cyst
def: "The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium." [PMID:20890417, UToronto:chum]
comment: Individuals diagnosed with neurenteric cysts most frequently present in the second and third decades of life with a male-to-female ratio of approximately 2:1. Moreover, in the pediatric population, 61.2 percent of patients found to have neurenteric cysts are male with a mean age of 6.4 years at presentation. The majority of adult patients with neurenteric cysts present with progressive focal pain at the level of spinal axis pathology, fluctuating myelopathic signs, or radicular symptoms.
xref: MSH:D009436
xref: SNOMEDCT_US:253127008
xref: SNOMEDCT_US:41353005
xref: UMLS:C0027806
is_a: HP:0030724 ! Central nervous system cyst

[Term]
id: HP:0030726
name: Spinal neurenteric cyst
def: "A neurenteric cyst located in the spine." [UToronto:chum]
xref: UMLS:C4280799
is_a: HP:0030725 ! Neurenteric cyst

[Term]
id: HP:0030727
name: Intracranial neurenteric cyst
def: "A neurenteric cyst located within the skull." [UToronto:chum]
xref: UMLS:C4280680
is_a: HP:0030725 ! Neurenteric cyst

[Term]
id: HP:0030728
name: Meromelia
def: "Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot." [UToronto:chum]
xref: SNOMEDCT_US:60220000
xref: UMLS:C0265549
is_a: HP:0009826 ! Limb undergrowth

[Term]
id: HP:0030729
name: Frontoethmoidal meningocele
def: "A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones." [HPO:probinson]
synonym: "Frontoethmoid meningocele" EXACT []
xref: UMLS:C4280798
is_a: HP:0002435 ! Meningocele

[Term]
id: HP:0030730
name: Parietal meningocele
def: "A herniation of meninges through a congenital bone defect in the skull in the parietal region." [HPO:probinson]
xref: UMLS:C4280797
is_a: HP:0002435 ! Meningocele

[Term]
id: HP:0030731
name: Carcinoma
def: "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus)." [HPO:probinson]
xref: MSH:D002277
xref: NCIT:C2916
xref: SNOMEDCT_US:68453008
xref: UMLS:C0007097
is_a: HP:0031492 ! Epithelial neoplasm

[Term]
id: HP:0030732
name: Dysplastic tricuspid valve
def: "A congenital malformation of the tricuspid valve characterized by leaflet deformation." [HPO:probinson, PMID:2007717, PMID:26059011, UToronto:chum]
comment: Malformations of the tricuspid valve include a wide range of morphologic features that can be divided into two main groups: those in which the primary lesion is downward displacement of the basal attachment of the mural and septal (or both) leaflets, known as Ebstein's malformation (1), and those without downward displacement but with deformation of the leaflets and the tension apparatus, an arrangement described as dysplasia. In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae.
synonym: "Tricuspid valve dysplasia" EXACT []
xref: UMLS:C4255215
is_a: HP:0001702 ! Abnormal tricuspid valve morphology

[Term]
id: HP:0030733
name: Vesicoallantoic abdominal wall defect
def: "An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst." [HPO:probinson, PMID:2521673, UToronto:chum]
xref: UMLS:C4280796
is_a: HP:0010478 ! Abnormality of the urachus

[Term]
id: HP:0030735
name: Ureterovesical junction obstruction
def: "Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle." [UToronto:chum]
xref: UMLS:C2609249
is_a: HP:0006000 ! Ureteral obstruction

[Term]
id: HP:0030736
name: Sacrococcygeal teratoma
def: "A teratoma arising in the sacro-coccygeal region." [UToronto:chum]
comment: Sacrococcygeal teratomas arise from totipotent cells from the node of Hensen at the anterior aspect of the coccyx by about the 2nd to 3rd weeks of gestation, and are composed of the all three germ cells (i.e. ectoderm, mesoderm and endoderm). Sacrococcygeal teratomas  are classified according to their relative extent outside and inside the body. Altman type I: entirely outside, sometimes attached to the body only by a narrow stalk; Altman type II: mostly outside; Altman type III: mostly inside; Altman type IV: entirely inside.
xref: SNOMEDCT_US:281561000
xref: UMLS:C0559459
is_a: HP:0005107 ! Abnormal sacrum morphology
is_a: HP:0009792 ! Teratoma

[Term]
id: HP:0030737
name: Altman type I sacrococcygeal teratoma
def: "A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks." [HPO:probinson]
xref: UMLS:C4280795
is_a: HP:0030736 ! Sacrococcygeal teratoma

[Term]
id: HP:0030738
name: Altman type II sacrococcygeal teratoma
def: "A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component." [HPO:probinson]
xref: UMLS:C4280794
is_a: HP:0030736 ! Sacrococcygeal teratoma

[Term]
id: HP:0030739
name: Altman type III sacrococcygeal teratoma
def: "A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass." [HPO:probinson]
xref: UMLS:C4280793
is_a: HP:0030736 ! Sacrococcygeal teratoma

[Term]
id: HP:0030740
name: Anomalous muscle bundle of the right ventricle
def: "An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract." [UToronto:chum]
comment: The anomalous muscle bundle is triangular in shape, with its apex attached to the anterior aspect of the ventricular septum immediately above and in front of the ventricular septal defect. It crosses the right ventricular chamber to insert at the apical portion of the anterior wall of the right ventricle (PMID:708529).
synonym: "Right ventricular anomalous muscle bundle" EXACT []
xref: UMLS:C4280792
is_a: HP:0001707 ! Abnormal right ventricle morphology

[Term]
id: HP:0030741
name: Mediastinal teratoma
def: "A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs)." [UToronto:chum]
synonym: "Teratoma of the mediastinum" EXACT []
xref: NCIT:C6438 "Mediastinal teratoma"
xref: UMLS:C1334682
is_a: HP:0009792 ! Teratoma

[Term]
id: HP:0030742
name: Glial remnants posterior to lens
def: "This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot." []
synonym: "Mittendorf dot" EXACT []
xref: SNOMEDCT_US:370483001
xref: UMLS:C1299892
is_a: HP:0007968 ! Remnants of the hyaloid vascular system

[Term]
id: HP:0030743
name: Glial remnants anterior to the optic disc
def: "Persistanced of a posterior remnant of the hyaloid artery located at the optic disc." [HPO:probinson]
synonym: "Bergmeister papilla" EXACT []
xref: UMLS:C4280791
is_a: HP:0007968 ! Remnants of the hyaloid vascular system

[Term]
id: HP:0030744
name: Hyaloid vascular remnant and retrolental mass
def: "A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract." [HPO:probinson]
xref: UMLS:C4280790
is_a: HP:0007968 ! Remnants of the hyaloid vascular system

[Term]
id: HP:0030745
name: Dilatation of the ductus arteriosus
def: "A saccular or fusiform dilation and elongation of the ductus arteriosus." [PMID:11788230, UToronto:chum]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Congenital ductus arteriosus aneurysm" NARROW []
synonym: "Ductus arteriosus aneurysm" NARROW []
xref: SNOMEDCT_US:233990006
xref: UMLS:C0398357
is_a: HP:0002617 ! Dilatation
is_a: HP:0011603 ! Congenital malformation of the great arteries

[Term]
id: HP:0030746
name: Intraventricular hemorrhage
def: "Bleeding into the ventricles of the brain." [UToronto:chum]
xref: SNOMEDCT_US:23276006
xref: UMLS:C0240059
is_a: HP:0002170 ! Intracranial hemorrhage

[Term]
id: HP:0030747
name: Preterm intraventricular hemorrhage
def: "Intraventricular hemorrhage that occurs in a premature infant." [HPO:probinson]
comment: This is a common complication seen in preterm infacnts since the cerebral blood vessels are not yet fully developed. Infants born more than 10 weeks early are at highest risk for this type of bleeding.
xref: UMLS:C4280789
is_a: HP:0030746 ! Intraventricular hemorrhage

[Term]
id: HP:0030748
name: Grade I preterm intraventricular hemorrhage
def: "Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove." [HPO:probinson, PMID:25371784]
synonym: "Germinal matrix hemorrhage" EXACT []
xref: SNOMEDCT_US:276650005
xref: UMLS:C0475737
is_a: HP:0030747 ! Preterm intraventricular hemorrhage

[Term]
id: HP:0030749
name: Grade II preterm intraventricular hemorrhage
def: "Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle." [UToronto:chum]
xref: UMLS:C4280788
is_a: HP:0030747 ! Preterm intraventricular hemorrhage

[Term]
id: HP:0030750
name: Grade III preterm intraventricular hemorrhage
def: "Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles." [UToronto:chum]
xref: UMLS:C4280787
is_a: HP:0030747 ! Preterm intraventricular hemorrhage

[Term]
id: HP:0030751
name: Grade IV preterm intraventricular hemorrhage
def: "Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension." [UToronto:chum]
xref: UMLS:C4280786
is_a: HP:0030747 ! Preterm intraventricular hemorrhage

[Term]
id: HP:0030752
name: Dacryocystocele
def: "A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve." [PMID:19205594, UToronto:chum]
synonym: "Timo cyst" EXACT []
xref: SNOMEDCT_US:42758002
xref: UMLS:C0155241
is_a: HP:0000579 ! Nasolacrimal duct obstruction

[Term]
id: HP:0030753
name: Intrauterine fetal demise of one twin after midgestation
def: "Loss of one twin occurring after midgestation (17 weeks gestation)." [HPO:jdavis, PMID:10732306, PMID:2187353, PMID:24361180, PMID:2704493, PMID:9699754]
comment: Loss of one twin in the first trimester does not appear to impair the development of the surviving twin. However, fetal death occurring after midgestation (17 weeks' gestation) may increase the risk of IUGR, preterm labor, preeclampsia and perinatal mortality.
synonym: "Single-twin demise" RELATED []
xref: UMLS:C4280785
is_a: HP:0001197 ! Abnormality of prenatal development or birth

[Term]
id: HP:0030754
name: Allantoic cyst
def: "A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly." [PMID:24950576, PMID:26213613, UToronto:chum]
xref: MSH:D014496
xref: SNOMEDCT_US:17234001
xref: UMLS:C0041915
is_a: HP:0010478 ! Abnormality of the urachus

[Term]
id: HP:0030755
name: Craniofacial teratoma
def: "A teratoma located in the craniofacial region." [UToronto:chum]
xref: NCIT:C3403
xref: UMLS:C4280784
is_a: HP:0009792 ! Teratoma

[Term]
id: HP:0030756
name: Erythrodontia
def: "Reddish, brown opalescent discoloration of teeth in normal light." [PMID:21731282]
comment: This feature is characteristic of Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder caused by mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues.
synonym: "Red teeth" EXACT []
xref: UMLS:C4280783
is_a: HP:0011073 ! Abnormality of dental color

[Term]
id: HP:0030757
name: Tooth abscess
def: "A pocket of pus located within a region of a tooth." [HPO:probinson]
synonym: "Dental abscess" EXACT []
synonym: "Dentoalveolar abscess" EXACT []
xref: SNOMEDCT_US:299709002
xref: UMLS:C0518988
is_a: HP:0011061 ! Abnormality of dental structure
is_a: HP:0025615 ! Abscess

[Term]
id: HP:0030758
name: Periapical tooth abscess
def: "A tooth abscess that occurs at the tip of the root (apex) of a tooth." []
xref: UMLS:C4280782
is_a: HP:0030757 ! Tooth abscess

[Term]
id: HP:0030759
name: Adipocyte hypertrophy
def: "An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy." [HPO:probinson, PMID:25148116]
synonym: "Fat cell hypertrophy" EXACT []
xref: UMLS:C4280781
is_a: HP:0009124 ! Abnormal adipose tissue morphology

[Term]
id: HP:0030760
name: Renal fibrosis
def: "Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease." [HPO:probinson, PMID:16408108]
synonym: "Kidney fibrosis" EXACT []
xref: SNOMEDCT_US:197660000
xref: UMLS:C0151650
is_a: HP:0012210 ! Abnormal renal morphology

[Term]
id: HP:0030761
name: obsolete Renal glomerular fibrosis
is_obsolete: true
replaced_by: HP:0000096

[Term]
id: HP:0030762
name: Mesangiolysis
def: "Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis." [HPO:probinson, PMID:6353041]
xref: UMLS:C4054531
is_a: HP:0001966 ! Mesangial abnormality

[Term]
id: HP:0030763
name: Amniotic Sheet
def: "A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion." [UToronto:chum]
synonym: "Amniotic shelf" EXACT []
xref: UMLS:C4280779
is_a: HP:0011409 ! Abnormality of placental membranes

[Term]
id: HP:0030764
name: Ochronosis
def: "Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved." [HPO:probinson, PMID:24447956, PMID:26929770]
xref: MSH:D009794
xref: SNOMEDCT_US:410042009
xref: UMLS:C0028817
is_a: HP:0011121 ! Abnormality of skin morphology

[Term]
id: HP:0030765
name: Sleep terror
def: "Episodes of intense fear, screaming and flailing although affected individuals are still asleep." []
comment: Sleep terrors may occur in individuals who are sleepwalking.
synonym: "Night terror" EXACT []
synonym: "Pavor nocturnus" EXACT []
synonym: "Sleep terrors" EXACT []
xref: MSH:D020184
xref: SNOMEDCT_US:89675003
xref: UMLS:C0037320
is_a: HP:0025235 ! Non-rapid eye movement parasomnia

[Term]
id: HP:0030766
name: Ear pain
def: "Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia)." [PMID:20736106]
synonym: "Ear pain" EXACT layperson []
synonym: "Otalgia" EXACT []
synonym: "Pain in the ear" EXACT layperson []
xref: MSH:D004433
xref: SNOMEDCT_US:16001004
xref: SNOMEDCT_US:162356005
xref: UMLS:C0013456
is_a: HP:0012531 ! Pain
is_a: HP:0031704 ! Abnormal ear physiology

[Term]
id: HP:0030767
name: Epignathus
def: "Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate." [PMID:19240824, UToronto:chum]
xref: SNOMEDCT_US:31248004
xref: UMLS:C0266725
is_a: HP:0009792 ! Teratoma
is_a: HP:0100649 ! Neoplasm of the oral cavity

[Term]
id: HP:0030769
name: Exencephaly
def: "A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium." [PMID:21887200, UToronto:chum]
xref: MSH:D009436
xref: SNOMEDCT_US:84461004
xref: UMLS:C0266453
is_a: HP:0045005 ! Neural tube defect

[Term]
id: HP:0030770
name: Craniorachischisis
def: "A neural tube defect in which both the brain and spinal cord remain open to varying degrees." [PMID:22095531, UToronto:chum]
xref: MSH:D009436
xref: SNOMEDCT_US:32219008
xref: UMLS:C0152426
is_a: HP:0045005 ! Neural tube defect

[Term]
id: HP:0030771
name: Mallet finger
def: "Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own." [HPO:jmcmurry, PMID:24839413]
xref: SNOMEDCT_US:64298006
xref: UMLS:C0158473
is_a: HP:0001167 ! Abnormality of finger

[Term]
id: HP:0030772
name: Proximal femoral focal deficiency
def: "Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb." [PMID:21438051, PMID:23915863, UToronto:chum]
xref: SNOMEDCT_US:205211001
xref: UMLS:C0431996
is_a: HP:0005613 ! Aplasia/hypoplasia of the femur

[Term]
id: HP:0030773
name: Internuclear ophthalmoplegia
def: "An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule." [HPO:probinson, PMID:1344079, PMID:21687160, PMID:25145891]
xref: MSH:D015835
xref: SNOMEDCT_US:49823009
xref: UMLS:C0152134
is_a: HP:0000602 ! Ophthalmoplegia

[Term]
id: HP:0030774
name: Mitochondrial swelling
def: "The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures." [HPO:probinson, PMID:22907871]
xref: MSH:D008933
xref: SNOMEDCT_US:125429001
xref: UMLS:C0026244
is_a: HP:0012087 ! Abnormal mitochondrial shape

[Term]
id: HP:0030775
name: Modic type vertebral endplate changes
def: "An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic." [HPO:probinson, PMID:24162519]
xref: UMLS:C4280778
is_a: HP:0003468 ! Abnormal vertebral morphology

[Term]
id: HP:0030776
name: Modic type I vertebral endplate changes
def: "An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation." [HPO:probinson, PMID:24162519]
synonym: "Modic type 1 vertebral endplate changes" EXACT []
xref: UMLS:C4280777
is_a: HP:0030775 ! Modic type vertebral endplate changes

[Term]
id: HP:0030777
name: Modic type II vertebral endplate changes
def: "An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow." [HPO:probinson, PMID:24162519]
synonym: "Modic type 2 vertebral endplate changes" EXACT []
xref: UMLS:C4280776
is_a: HP:0030775 ! Modic type vertebral endplate changes

[Term]
id: HP:0030778
name: Modic type III vertebral endplate changes
def: "An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modif type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs." [HPO:probinson, PMID:24162519]
synonym: "Modic type 3 vertebral endplate changes" EXACT []
xref: UMLS:C4280775
is_a: HP:0030775 ! Modic type vertebral endplate changes

[Term]
id: HP:0030779
name: Ethmocephaly
def: "Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears." [PMID:23248551, UToronto:chum]
xref: SNOMEDCT_US:55709000
xref: UMLS:C0266680
is_a: HP:0001360 ! Holoprosencephaly

[Term]
id: HP:0030780
name: Abnormality of the protein C anticoagulant pathway
def: "An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC." [HPO:probinson, PMID:12970121, PMID:15943976]
xref: UMLS:C4280774
is_a: HP:0003256 ! Abnormality of the coagulation cascade

[Term]
id: HP:0030781
name: Increased circulating free fatty acid level
def: "A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues." [HPO:probinson]
xref: UMLS:C4280773
is_a: HP:0040300 ! Abnormal circulating free fatty acid concentration

[Term]
id: HP:0030782
name: Abnormal serum interleukin level
def: "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation." [HPO:probinson, PMID:28487810]
synonym: "Abnormal serum IL level" EXACT HP:0045077 []
xref: UMLS:C4280772
is_a: HP:0011112 ! Abnormality of serum cytokine level

[Term]
id: HP:0030783
name: Increased serum interleukin-6
def: "An increased concentration of interleukin-6 in the circulation." [HPO:probinson, PMID:9883970]
synonym: "Increased serum IL-6" EXACT HP:0045077 []
xref: UMLS:C4280771
is_a: HP:0030782 ! Abnormal serum interleukin level

[Term]
id: HP:0030784
name: Anomia
def: "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name." [HPO:probinson, PMID:18348092]
synonym: "Amnesic aphasia" EXACT []
synonym: "Amnestic aphasia" EXACT []
synonym: "Anomic aphasia" EXACT []
synonym: "Nominal aphasia" EXACT []
xref: MSH:D000849
xref: SNOMEDCT_US:10325006
xref: UMLS:C0003113
is_a: HP:0002167 ! Neurological speech impairment

[Term]
id: HP:0030785
name: Mediastinal cystic lymphangioma
def: "A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors." [PMID:25821300, UToronto:chum]
synonym: "Intrathoracic cystic hygroma" EXACT []
synonym: "Thoracic cystic lymphangioma" EXACT []
xref: UMLS:C4280770
is_a: HP:0100764 ! Lymphangioma

[Term]
id: HP:0030786
name: Photopsia
def: "Perceived flashes of light." [HPO:probinson, PMID:10506812]
comment: Photopsia may be associated with (1) posterior vitreous detachment, (2) migraine with aura, (3) migraine aura without headache, and (4) retinal break or detachment.
xref: SNOMEDCT_US:56170001
xref: UMLS:C0085635
is_a: HP:0000504 ! Abnormality of vision

[Term]
id: HP:0030787
name: Cerumen abnormality
def: "Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal." [HPO:probinson]
xref: UMLS:C4280769
is_a: HP:0000372 ! Abnormality of the auditory canal

[Term]
id: HP:0030788
name: Impacted cerumen
def: "Blockage of the external auditory canal by a buildup of earwax." [HPO:probinson, PMID:15256605]
xref: SNOMEDCT_US:18070006
xref: UMLS:C0021092
is_a: HP:0030787 ! Cerumen abnormality

[Term]
id: HP:0030789
name: Excessive cerumen
def: "An increased quantity of earwax." [PMID:probinson]
comment: This feature is not necessarily associated with impacted cerumen, which if present should be coded separately.
xref: UMLS:C1382811
is_a: HP:0030787 ! Cerumen abnormality

[Term]
id: HP:0030790
name: Abnormal cerumen color
def: "An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color." [HPO:probinson]
synonym: "Abnormal cerumen colour" EXACT []
synonym: "Abnormal cerumen pigmentation" EXACT []
xref: UMLS:C4280768
is_a: HP:0030787 ! Cerumen abnormality

[Term]
id: HP:0030791
name: Abnormal jaw morphology
def: "A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla." [HPO:probinson]
xref: UMLS:C4280767
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0030792
name: Jaw neoplasm
def: "A tumor originating in the jaw (mandible or maxilla)." [HPO:probinson]
xref: MSH:D007573
xref: SNOMEDCT_US:126634001
xref: UMLS:C0022364
is_a: HP:0012289 ! Facial neoplasm
is_a: HP:0030791 ! Abnormal jaw morphology

[Term]
id: HP:0030793
name: Jaw swelling
def: "Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible)." [HPO:probinson]
xref: UMLS:C4280766
is_a: HP:0030791 ! Abnormal jaw morphology

[Term]
id: HP:0030794
name: Abnormal C-peptide level
def: "An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion." [HPO:probinson, PMID:15198367]
synonym: "Abnormal C peptide level" EXACT []
xref: UMLS:C4280765
is_a: HP:0010876 ! Abnormal circulating protein level

[Term]
id: HP:0030795
name: Reduced C-peptide level
def: "A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion." [HPO:probinson]
synonym: "Reduced C peptide level" EXACT []
xref: UMLS:C4280764
is_a: HP:0030794 ! Abnormal C-peptide level

[Term]
id: HP:0030796
name: Increased C-peptide level
def: "An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion." [HPO:probinson]
comment: C-peptide, which is composed of 31 amino acids, is released from the pancreatic beta-cells following cleavage of insulin from proinsulin. C-peptide levels are generally measured after an overnight fast.
synonym: "Increased C peptide level" EXACT []
xref: UMLS:C4280763
is_a: HP:0030794 ! Abnormal C-peptide level

[Term]
id: HP:0030797
name: Reduced volume of central subdivision of bed nucleus of stria terminalis
def: "A diminished volume of the central part of the bed nucleus of the stria terminalis." [HPO:probinson, PMID:7477289]
comment: This structure is larger in men than in females.
xref: UMLS:C4280762
is_a: HP:0030798 ! Abnormality of the bed nucleus of stria terminalis

[Term]
id: HP:0030798
name: Abnormality of the bed nucleus of stria terminalis
def: "The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus." [HPO:probinson, PMID:12600711]
xref: UMLS:C4280761
is_a: HP:0002500 ! Abnormality of the cerebral white matter

[Term]
id: HP:0030799
name: Scaphocephaly
def: "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis." [HPO:probinson, PMID:16156241, PMID:23960302]
comment: Dolichocephaly is a term in wide use to describe any long narrow head, with a cephalic index usually below 75%. Scaphocephaly, derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head that resembles an inverted\nboat with a keel. Scaphocephaly thus refers to an inverted keellike appearance to the skull, with the widest part of the skull in the temporal rather than parietal area and with palpable ridging over part or all of the sagittal suture (PMID:16156241).
xref: MSH:D003398
xref: SNOMEDCT_US:4191007
xref: UMLS:C0265534
is_a: HP:0000268 ! Dolichocephaly

[Term]
id: HP:0030800
name: Abnormal visual accommodation
def: "An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power." [HPO:probinson]
xref: UMLS:C4280760
is_a: HP:0012373 ! Abnormal eye physiology

[Term]
id: HP:0030801
name: Reduced visual accommodation
def: "A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances." [HPO:probinson]
xref: UMLS:C4280759
is_a: HP:0030800 ! Abnormal visual accommodation

[Term]
id: HP:0030802
name: Lower eyelid retraction
def: "Inferior malposition of the lower eyelid margin without eyelid eversion." [HPO:probinson, PMID:10946945]
comment: This is is not to be confused with ectropion (eyelid eversion). Lower eyelid retraction presents clinically with scleral show; round, sad-looking eyes; lateral canthal tendon laxity; and symptoms of ocular irritation, including photophobia, excessive tearing, and nocturnal lagophthalmos.
xref: SNOMEDCT_US:700264006
xref: UMLS:C1861656
is_a: HP:0500043 ! Eyelid retraction

[Term]
id: HP:0030803
name: Platonychia
def: "Abnormal flat nail." [HPO:probinson]
xref: UMLS:C1853986
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0030804
name: Trachyonychia
def: "Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix." [HPO:probinson, PMID:22016269, PMID:26273150]
comment: The most common histopathologic findings of trachyonychia are spongiosis and exocytosis of inflammatory cells in the nail epithelia1. Although idiopathic trachyonychia may be much more common than reported, it may present with various associated skin or mucosal diseases including alopecia areata, lichen planus, psoriasis, and eczema. Trachyonychia predominantly occurs in children, although it can affect people of all ages. Trachyonychia can improve spontaneously but may have a chronic course exceeding 6 years and result in cosmetic handicaps.
xref: SNOMEDCT_US:69192004
xref: UMLS:C0546956
is_a: HP:0002164 ! Nail dysplasia

[Term]
id: HP:0030805
name: Absent lunula
def: "Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail." [HPO:probinson]
xref: UMLS:C4280758
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0030806
name: Fast-growing nails
def: "Nails whose growth is quicker than normal." [HPO:probinson]
xref: UMLS:C4280757
is_a: HP:0030807 ! Abnormal nail growth

[Term]
id: HP:0030807
name: Abnormal nail growth
def: "Nail whose growth pattern or speed deviates from normal." [HPO:probinson]
xref: UMLS:C1610609
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0030808
name: Ragged cuticle
def: "The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle." [HPO:probinson]
xref: UMLS:C4280756
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0030809
name: Abnormal tongue morphology
def: "Any structural anomaly of the tongue." []
xref: UMLS:C4280755
is_a: HP:0000157 ! Abnormality of the tongue

[Term]
id: HP:0030810
name: Abnormal tongue physiology
def: "Any functional anomaly of the tongue." []
xref: UMLS:C4280754
is_a: HP:0000157 ! Abnormality of the tongue

[Term]
id: HP:0030811
name: Tongue pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue." [HPO:probinson]
synonym: "Painful tongue" EXACT []
xref: MSH:D005926
xref: SNOMEDCT_US:30731004
xref: UMLS:C0017672
is_a: HP:0030810 ! Abnormal tongue physiology

[Term]
id: HP:0030812
name: Enlarged tonsils
def: "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat." [HPO:probinson]
synonym: "Enlargment of tonsils" EXACT []
synonym: "Tonsillar hypertrophy" EXACT []
synonym: "tonsils large/hypertrophy" EXACT []
xref: SNOMEDCT_US:46689006
xref: UMLS:C0272386
is_a: HP:0100765 ! Abnormality of the tonsils

[Term]
id: HP:0030813
name: Absent tonsils
def: "Lack of observable tonsillar tissue." [HPO:probinson]
synonym: "Hypoplastic tonsils" EXACT []
synonym: "Tonsillar hypoplasia" EXACT []
xref: SNOMEDCT_US:249393008
xref: SNOMEDCT_US:300277007
xref: UMLS:C0576999
is_a: HP:0100765 ! Abnormality of the tonsils

[Term]
id: HP:0030814
name: Orange discoloured tonsils
def: "A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903." [HPO:probinson, PMID:19470903]
synonym: "Orange coloured tonsils" EXACT []
synonym: "Orange tonsils" EXACT []
xref: UMLS:C4280753
is_a: HP:0100765 ! Abnormality of the tonsils

[Term]
id: HP:0030815
name: Lipoma of the tongue
def: "A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue." [HPO:probinson]
xref: UMLS:C0238467
is_a: HP:0012032 ! Lipoma
is_a: HP:0100648 ! Neoplasm of the tongue

[Term]
id: HP:0030816
name: Gingival recession
def: "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth." []
synonym: "Gum recession" EXACT []
synonym: "Receding gums" EXACT []
xref: MSH:D005889
xref: SNOMEDCT_US:4356008
xref: UMLS:C0017572
is_a: HP:0000168 ! Abnormality of the gingiva

[Term]
id: HP:0030817
name: Beaked nails
def: "Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit." [HPO:probinson]
comment: Beaked nails may be observed with conditions including hyperparathyroidism, renal failure, psoriasis, and systemic sclerosis.
xref: UMLS:C4280752
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0030818
name: Central nail canal
def: "The presense of a depressed line (\"canal\") in the center of the nail." []
comment: Central nail canal may be observed with conditions including severe arterial disease, severe malnutrition, and repetitive trauma. Heller's fir tree deformity refers to a central canal with a fir tree appearanceand may occur with peripheral artery disease.
synonym: "Median nail dystrophy" EXACT []
xref: SNOMEDCT_US:238718006
xref: SNOMEDCT_US:86393005
xref: UMLS:C0263526
is_a: HP:0008404 ! Nail dystrophy

[Term]
id: HP:0030819
name: Ski jump nail
def: "Nails that slope upward at the free edge." [HPO:probinson]
synonym: "Upslanting nail" EXACT []
synonym: "Upward angulation of nail" EXACT []
xref: UMLS:C4280751
is_a: HP:0001597 ! Abnormality of the nail

[Term]
id: HP:0030820
name: Hooded eyelid
def: "Eyelid partly covered by skin when eyes are open." [HPO:probinson]
xref: UMLS:C3277348
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0030821
name: Hooded lower eyelid
def: "Lower eyelid partly covered by skin when eyes are open." []
xref: UMLS:C4280750
is_a: HP:0030820 ! Hooded eyelid

[Term]
id: HP:0030822
name: Hooded upper eyelid
def: "Upper eyelid partly covered by skin when eyes are open." []
xref: UMLS:C4280749
is_a: HP:0030820 ! Hooded eyelid

[Term]
id: HP:0030823
name: Scleral thickening
def: "Increased dimension of the sclera in the anterior-posterior axis." [HPO:probinson]
synonym: "Thick sclera" EXACT []
xref: UMLS:C2674403
is_a: HP:0000591 ! Abnormal sclera morphology

[Term]
id: HP:0030824
name: Mizuo phenomenon
def: "Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]." [HPO:probinson]
synonym: "Mizuo-Nakamura phenomenon" EXACT []
xref: UMLS:C4280748
is_a: HP:0001098 ! Abnormal fundus morphology

[Term]
id: HP:0030825
name: Absent foveal reflex
def: "Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope." [HPO:probinson, PMID:27491360]
comment: Absence of the foveal reflex can occur with macular edema, central serous retinopathy, or other macular abnormalities such as macular dystrophy. The macular reflex is often less pronounced in adults than in children, and may be absent in otherwise normal eyes of older individuals.
synonym: "Foveal reflex absent" EXACT []
synonym: "Loss of foveal reflex" EXACT []
xref: SNOMEDCT_US:247144003
xref: UMLS:C0423420
is_a: HP:0000493 ! Abnormal foveal morphology

[Term]
id: HP:0030826
name: Eyelid fasciculation
def: "Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching." [HPO:probinson]
synonym: "Eyelid fluttering" EXACT []
synonym: "Fasciculation of the eyelid" EXACT []
synonym: "Muscle twitches in eye lid" EXACT layperson []
synonym: "Muscle twitches in eyelid" EXACT layperson []
synonym: "Twitching around eyes" EXACT layperson []
xref: UMLS:C4280682
is_a: HP:0031785 ! Abnormal eyelid movement

[Term]
id: HP:0030828
name: Wheezing
def: "A high-pitched whistling sound associated with labored breathing." [HPO:probinson, PMID:26229557]
comment: Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less
synonym: "Wheezing" EXACT layperson []
xref: MSH:D012135
xref: SNOMEDCT_US:56018004
xref: UMLS:C0043144
is_a: HP:0030829 ! Abnormal breath sound

[Term]
id: HP:0030829
name: Abnormal breath sound
def: "An anomalous (adventitious) sound produced by the breathing process." [HPO:probinson]
xref: SNOMEDCT_US:301273002
xref: UMLS:C0231856
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0030830
name: Crackles
def: "Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position." [PMID:26229557, UToronto:chum]
comment: Rales are fine, discontinuous crackles that can sound like cellophane being crumpled or velcro being pulled apart. They may be heard with a stethoscope when listening over lungs containing more than the normal amount of fluid secretiions.
synonym: "Crepitations" EXACT []
synonym: "Rales" EXACT []
xref: MSH:D012135
xref: SNOMEDCT_US:48409008
xref: UMLS:C0034642
is_a: HP:0030829 ! Abnormal breath sound

[Term]
id: HP:0030831
name: Rhonchi
def: "Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds." [PMID:26229557, UToronto:chum]
comment: Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less.
xref: MSH:D012135
xref: SNOMEDCT_US:24612001
xref: UMLS:C0035508
is_a: HP:0030829 ! Abnormal breath sound

[Term]
id: HP:0030832
name: Vitreous strands
def: "Fiber- or rope-like opacities located within the vitreous humor." []
xref: SNOMEDCT_US:28167005
xref: UMLS:C0271408
is_a: HP:0100832 ! Vitreous floaters

[Term]
id: HP:0030833
name: Neck pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck." [UToronto:chum]
synonym: "Neck pain" EXACT layperson []
xref: MSH:D019547
xref: SNOMEDCT_US:81680005
xref: UMLS:C0007859
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030834
name: Shoulder pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder." [UToronto:chum]
synonym: "Shoulder pain" EXACT layperson []
xref: MSH:D020069
xref: SNOMEDCT_US:45326000
xref: UMLS:C0037011
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030835
name: Elbow pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow." [UToronto:chum]
synonym: "Elbow pain" EXACT layperson []
xref: SNOMEDCT_US:74323005
xref: UMLS:C0239266
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030836
name: Wrist pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist." [UToronto:chum]
synonym: "Wrist pain" EXACT layperson []
xref: SNOMEDCT_US:202482009
xref: SNOMEDCT_US:56608008
xref: UMLS:C0221785
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030837
name: Finger pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger." [UToronto:chum]
synonym: "Finger pain" EXACT layperson []
xref: SNOMEDCT_US:18876004
xref: UMLS:C0239589
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030838
name: Hip pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip." [UToronto:chum]
synonym: "Hip pain" EXACT layperson []
xref: SNOMEDCT_US:49218002
xref: UMLS:C0019559
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030839
name: Knee pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee." [UToronto:chum]
synonym: "Knee pain" EXACT layperson []
synonym: "Pain under knee cap" BROAD layperson []
xref: SNOMEDCT_US:30989003
xref: UMLS:C0231749
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030840
name: Ankle pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle." []
synonym: "Ankle pain" EXACT layperson []
xref: SNOMEDCT_US:202490009
xref: SNOMEDCT_US:247373008
xref: UMLS:C0238656
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030841
name: Toe pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe." [UToronto:chum]
synonym: "Toe pain" EXACT layperson []
xref: SNOMEDCT_US:285365001
xref: UMLS:C0241416
is_a: HP:0012531 ! Pain

[Term]
id: HP:0030842
name: Choking episodes
def: "Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing." [HPO:probinson]
xref: UMLS:C4280747
is_a: HP:0100738 ! Abnormal eating behavior

[Term]
id: HP:0030843
name: Cardiac amyloidosis
alt_id: HP:0200126
def: "Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding." [HPO:probinson, PMID:16186440]
comment: The diagnosis of amyloidosis requires histological identification of amyloid deposits. Congo Red staining renders amyloid deposits salmon pink by light microscopy, with a characteristic apple green birefringence under polarized light conditions. Additional immunohistochemical staining for precursor proteins identifies the type of amyloidosis.
synonym: "Amyloid cardiomyopathy" EXACT []
xref: SNOMEDCT_US:16573007
xref: UMLS:C0268407
is_a: HP:0001637 ! Abnormal myocardium morphology
is_a: HP:0011034 ! Amyloidosis

[Term]
id: HP:0030844
name: Undetectable pattern electroretinogram
def: "Absent response to a pattern electroretinogram (PERG)." [HPO:probinson]
xref: UMLS:C4280746
is_a: HP:0030467 ! Abnormal pattern electroretinogram

[Term]
id: HP:0030845
name: Heliotrope rash of eyelid
def: "Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema." [HPO:probinson, PMID:12786876, PMID:25587479]
comment: Purple eyelids, which are described as heliotrope, as they resemble the heliotrope flower, e.g., Heliotropium peruvianum, which has small purple petals. Heliotrope rash is one of the characteristic skin manifestations of juvenile dermatomyositis. It is a reddish-purple rash on the upper eyelids that is usually bilateral.
xref: UMLS:C4280745
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0040324 ! Heliotrope rash

[Term]
id: HP:0030846
name: Abnormality of venous physiology
def: "An anomaly of venous function." [HPO:probinson]
xref: UMLS:C4280744
is_a: HP:0030163 ! Abnormal vascular physiology

[Term]
id: HP:0030847
name: Abnormal jugular venous pressure
def: "An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure." [HPO:probinson, PMID:24085809]
xref: SNOMEDCT_US:62436006
xref: UMLS:C0520860
is_a: HP:0030846 ! Abnormality of venous physiology

[Term]
id: HP:0030848
name: Elevated jugular venous pressure
def: "Increased jugular venous pressure." []
xref: SNOMEDCT_US:22447003
xref: UMLS:C0520861
is_a: HP:0030847 ! Abnormal jugular venous pressure

[Term]
id: HP:0030849
name: Hepatojugular reflux
def: "The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux." [HPO:probinson, PMID:24085809]
xref: SNOMEDCT_US:72196001
xref: UMLS:C0239949
is_a: HP:0030847 ! Abnormal jugular venous pressure

[Term]
id: HP:0030850
name: Abnormal pulse pressure
def: "An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure." [HPO:probinson]
xref: UMLS:C0855322
is_a: HP:0030163 ! Abnormal vascular physiology

[Term]
id: HP:0030851
name: Low pulse pressure
def: "Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)." [HPO:probinson]
xref: UMLS:C4280743
is_a: HP:0030850 ! Abnormal pulse pressure

[Term]
id: HP:0030852
name: High pulse pressure
def: "Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)." [HPO:probinson]
xref: UMLS:C0855323
is_a: HP:0030850 ! Abnormal pulse pressure

[Term]
id: HP:0030853
name: Heterotaxy
def: "An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body." [HPO:probinson, PMID:21731561]
comment: In the normal body, the internal organs are arranged in different patterns on the right and left sides, and are not mirror images of each other. Hence, if asymmetry of the thoracic and abdominal organs is the usual or normal situation, the syndrome of visceral heterotaxy includes patients with an unusual degree of symmetry of some of the thoracic and abdominal organs, and the atrial appendages within the heart.
synonym: "Heterotaxia" EXACT []
xref: Fyler:0190
xref: Fyler:190
xref: MSH:D059446
xref: SNOMEDCT_US:14821001
xref: SNOMEDCT_US:24614000
xref: UMLS:C0266642
is_a: HP:0001507 ! Growth abnormality

[Term]
id: HP:0030854
name: Scleral staphyloma
def: "A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure." [HPO:probinson, PMID:22454726]
comment: Most staphylomas occur in the posterior pole, usually due to pathological or degenerative myopia. Anterior staphylomas are less frequent. They generally occur after longstanding mistreated or untreated infections in a previously healthy eye and are commonly associated with fungal corneal ulcers. In other cases, they may follow chronic inflammatory diseases such as necrotizing scleritis.
synonym: "Staphyloma" EXACT []
xref: SNOMEDCT_US:111534007
xref: UMLS:C0155359
is_a: HP:0000591 ! Abnormal sclera morphology

[Term]
id: HP:0030855
name: Anterior staphyloma
def: "A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure." [HPO:probinson, PMID:24600153]
xref: SNOMEDCT_US:231888000
xref: UMLS:C0339206
is_a: HP:0030854 ! Scleral staphyloma

[Term]
id: HP:0030856
name: Posterior staphyloma
def: "A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure." [HPO:probinson, PMID:25376120]
xref: SNOMEDCT_US:87819007
xref: UMLS:C0155360
is_a: HP:0030854 ! Scleral staphyloma

[Term]
id: HP:0030857
name: Eye movement-induced pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding." [HPO:probinson, PMID:12928305]
xref: UMLS:C4280742
is_a: HP:0200026 ! Ocular pain

[Term]
id: HP:0030858
name: Addictive behavior
def: "A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains." [HPO:probinson, PMID:20560821]
comment: Several behaviors, besides psychoactive substance ingestion, produce short-term reward that may engender persistent behavior despite knowledge of adverse consequences, i.e., diminished control over the behavior.
xref: MSH:D016739
xref: SNOMEDCT_US:32709003
xref: UMLS:C0085281
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0030859
name: Topoisomerase I antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I." [PMID:16112028]
synonym: "Top1 antibody positivity" EXACT []
synonym: "Topoisomerase (DNA) I antibody positivity" EXACT []
xref: UMLS:C4280741
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030860
name: Abnormal CSF amyloid level
def: "Abnormal concentration of amyloid in the cerebrospinal fluid (CSF)." []
comment: In Alzheimer disease, histopathology typically reveals extracellular accumulations of amyloid beta (Abeta) in senile plaques and intracellular neurofibrillary tangles of hyperphosphorylated tau (P-tau). A[beta]42 is the 42 amino acid isoform of amyloid beta. Using positron emission tomography several studies found an inverse correlation between brain amyloid load and CSF A[beta]42.
synonym: "Abnormal CSF A[beta]42 level" EXACT HP:0045077 []
xref: UMLS:C4280740
is_a: HP:0025456 ! Abnormal CSF protein level

[Term]
id: HP:0030861
name: Decreased CSF amyloid level
def: "Reduced concentration of amyloid in the cerebrospinal fluid (CSF)." []
xref: UMLS:C4280739
is_a: HP:0030860 ! Abnormal CSF amyloid level

[Term]
id: HP:0030862
name: Elevated CSF amyloid level
def: "Increased concentration of amyloid in the cerebrospinal fluid (CSF)." []
xref: UMLS:C4280738
is_a: HP:0030860 ! Abnormal CSF amyloid level

[Term]
id: HP:0030863
name: Nasal flaring
def: "Widening of the nostrils upon inhalation as a manifestation of respiratory distress." [PMID:25274969, UToronto:chum]
comment: Nasal flaring is a compensatory symptom that increases upper airway diameter and reduces resistance and work of breathing.
xref: SNOMEDCT_US:21558008
xref: SNOMEDCT_US:248568003
xref: UMLS:C0277873
is_a: HP:0002098 ! Respiratory distress

[Term]
id: HP:0030864
name: Intercostal retractions
def: "A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress." [PMID:25274969]
synonym: "Chest retractions" EXACT []
xref: SNOMEDCT_US:6442005
xref: UMLS:C0425470
is_a: HP:0002098 ! Respiratory distress

[Term]
id: HP:0030865
name: Large elbow
def: "Abnormal increased size of the elbow joint." [HPO:probinson]
xref: UMLS:C4280737
is_a: HP:0009811 ! Abnormality of the elbow

[Term]
id: HP:0030866
name: Large knee
def: "Abnormally increased size of the knee joint." [HPO:probinson]
xref: UMLS:C4280736
is_a: HP:0002815 ! Abnormality of the knee

[Term]
id: HP:0030867
name: Vertical orbital dystopia
def: "The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other." [HPO:probinson, PMID:7795293]
synonym: "Eyes at different heights" EXACT layperson []
synonym: "Misaligned eyes" EXACT layperson []
synonym: "Unequal eye height" EXACT layperson []
xref: SNOMEDCT_US:253243008
xref: UMLS:C0431460
is_a: HP:0100886 ! Abnormality of globe location

[Term]
id: HP:0030868
name: Monorchism
def: "Having only one testis in the scrotum." [HPO:probinson]
synonym: "Monorchidism" EXACT []
xref: SNOMEDCT_US:87310001
xref: UMLS:C0266429
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0030869
name: Anorchism
def: "An abnormality of XY sexual development characterized by the absence of both testes at birth." [HPO:probinson]
xref: MSH:C537770
xref: SNOMEDCT_US:371015003
xref: UMLS:C1261504
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0030870
name: Abnormality of spinal facet joint
def: "An anomaly of the small joints located between and behind adjacent vertebrae." [HPO:probinson]
comment: The spinal facet joints represent a set of synovial, plane joints between the articular processes of each two adjacent vertebrae. Each pair of facet joints functions to guide and limit the movement of the corresponding spinal motion segment.
synonym: "Abnormality of apophyseal joint" EXACT []
synonym: "Abnormality of Z-joint" EXACT []
synonym: "Abnormality of zygapophyseal joint" EXACT []
synonym: "Abnormality of zygapophysial joint" EXACT []
xref: UMLS:C4280735
is_a: HP:0003312 ! Abnormal form of the vertebral bodies

[Term]
id: HP:0030871
name: Facet joint arthrosis
def: "Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray." [HPO:probinson]
comment: Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disc disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disc disease are both common causes of back and neck pain.
synonym: "Facet arthritis" EXACT []
xref: UMLS:C4280734
is_a: HP:0030870 ! Abnormality of spinal facet joint

[Term]
id: HP:0030872
name: Abnormal cardiac ventricular function
def: "An abnormality of the cardiac ventricular function." [NIHR:ldaugherty]
xref: UMLS:C4280733
is_a: HP:0011025 ! Abnormal cardiovascular system physiology

[Term]
id: HP:0030873
name: Anticentromere antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components." [PMID:17444587]
synonym: "ACA positivity" EXACT []
synonym: "Anti-centromere antibody positivity" EXACT []
xref: UMLS:C4280732
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030874
name: Oxygen desaturation on exertion
def: "Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa." [NIHR:ldaugherty, PMID:24121092]
synonym: "O2 desaturation on exertion" EXACT HP:0045077 []
xref: UMLS:C4280731
is_a: HP:0012418 ! Hypoxemia

[Term]
id: HP:0030875
name: Abnormality of pulmonary circulation
def: "A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart." [HPO:probinson]
synonym: "Abnormal pulmonary circulation" EXACT []
synonym: "Abnormality of respiratory circulation" EXACT []
xref: UMLS:C4280730
is_a: HP:0002795 ! Functional respiratory abnormality
is_a: HP:0030163 ! Abnormal vascular physiology

[Term]
id: HP:0030876
name: Increased pulmonary capillary wedge pressure
def: "Pulmonary capillary wedge pressure (PCWP) above 15mmHg." [NIHR:ldaugherty]
comment: The pulmonary capillary wedge pressure refers to the pressure measured by wedging a pulmonary catheter with an inflated balloon into a small pulmonary arterial branch.
synonym: "Increased pulmonary arterial wedge pressure" EXACT []
synonym: "Increased pulmonary artery occlusion pressure" EXACT []
xref: SNOMEDCT_US:30261008
xref: UMLS:C0520850
is_a: HP:0030875 ! Abnormality of pulmonary circulation

[Term]
id: HP:0030877
name: Reduced FEV1/FVC ratio
def: "Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity)." [NIHR:ldaugherty, PMID:22347750, PMID:24695507]
comment: A low FEV1/FVC ratio indicates an obstructive defect. There are several cutoffs in the literature. The first option is to follow the GOLD criteria, which use a cutoff of less than 70 percent. For patients five to 18 years of age, the National Asthma Education and Prevention Program guideline says that a ratio of less than 85 percent is consistent with an obstructive defect as long as the patient has symptoms consistent with obstructive lung disease. The second option is to follow the ATS criteria, which use the lower limit of normal (LLN) as the cutoff for adults. The LLN is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III).
synonym: "Obstructive deficit on pulmonary function test" EXACT []
synonym: "Obstructive deficit on pulmonary function testing" EXACT []
xref: UMLS:C4280729
is_a: HP:0006536 ! Obstructive lung disease
is_a: HP:0032340 ! Abnormal spirometry test

[Term]
id: HP:0030878
name: Abnormality on pulmonary function testing
def: "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography." [HPO:probinson]
synonym: "Abnormal pulmonary function test" EXACT []
xref: UMLS:C4280728
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0030879
name: Interlobular septal thickening on pulmonary HRCT
def: "Presence of thickening of the interlobular septa of the lungs as seen on a CT scan." [NIHR:ldaugherty, PMID:23247773]
comment: Interlobular septa are 10-20nm long structures at the border of the secondary pulmonary lobules and which are usually perpendicular to the pleura in the periphery of the lung. Interlobular septa are composed of connective tisues and contain pulmonary venules and lymphatics. Diseases that affect one of the components of the interlobular septa may lead to thickeninig of the septa, which makes the visible on computed tomography (CT) scans. Some of the diseases that may be associated with this phenotypic feature are pulmonary edema, pulmonary lymphangitis carcinomatosis, leukemic or lymphomic involvement of the lung, diffuse alveolar hemorrhage, Nieman-Pick disease, and pneumonia. The terms septal lines or septal thickening may also be used to describe interlobular septal thickening. Earlier descriptions include the terms peripheral lines, short lines, and interlobular lines.
xref: UMLS:C4280727
is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality

[Term]
id: HP:0030880
name: Raynaud phenomenon
comment: Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes. {xref="NIHR:ldaugherty"}
synonym: "Raynaud disease" RELATED []
synonym: "Raynaud's phenomenon" EXACT []
xref: MSH:D011928
xref: SNOMEDCT_US:266261006
xref: UMLS:C0034735
is_a: HP:0025323 ! Abnormal arterial physiology

[Term]
id: HP:0030881
name: Shoulder impingement
def: "Trapping and compression of the rotator cuff tendons during shoulder movements." [HPO:probinson]
comment: Shoulder impingment can cause the rotator cuff tendon to become inflamed and swollen (rotator cuff tendonitis). Similarly, shoulder impingement can cause the bursa to become inflamed (shoulder bursitis).
xref: UMLS:C1655733
is_a: HP:0003043 ! Abnormality of the shoulder

[Term]
id: HP:0030882
name: Coronary artery aneurysm
def: "Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel." [HPO:probinson, PMID:28374180]
synonym: "Coronary arterial dilatation" EXACT []
synonym: "Coronary artery dilatation" EXACT []
synonym: "Coronary artery ectasia" EXACT []
xref: Fyler:3129
xref: UMLS:C4255100
is_a: HP:0006704 ! Abnormal coronary artery morphology

[Term]
id: HP:0030883
name: Femoroacetabular Impingement
def: "Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis." [PMID:22108232]
synonym: "Femoral acetabular impingement" EXACT []
xref: MSH:D057925
xref: SNOMEDCT_US:432473000
xref: UMLS:C2936290
is_a: HP:0001384 ! Abnormality of the hip joint

[Term]
id: HP:0030884
name: Gastrojejunal tube feeding in infancy
def: "Feeding problem necessitating gastrojejunal tube feeding." [PMID:11827911]
comment: The rationale for gastrojejunal tube feeding is that placing the tip of the tube beyond the ligament of Treitz prevented duodenogastric reflux or gastro-esophageal reflux. Gastrojejunal feeding tubes have since been used in children who are deemed too unfit for antireflux surgery or where fundoplication has failed.
synonym: "Gastro-jejunal tube feeding in infancy" EXACT []
xref: UMLS:C4280681
is_a: HP:0008872 ! Feeding difficulties in infancy

[Term]
id: HP:0030885
name: Recurrent parasitic infections
def: "Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection." [HPO:probinson]
xref: UMLS:C4280726
is_a: HP:0002719 ! Recurrent infections
is_a: HP:0020108 ! Unusual parasitic infection

[Term]
id: HP:0030886
name: Abnormal lymphocyte apoptosis
def: "A anomaly in the rate of apoptosis in lymphocytes." [HPO:probinson]
xref: UMLS:C4280725
is_a: HP:0031409 ! Abnormal lymphocyte physiology

[Term]
id: HP:0030887
name: Increased lymphocyte apoptosis
def: "A elevation in the rate of apoptosis in lymphocytes." []
xref: UMLS:C4280724
is_a: HP:0030886 ! Abnormal lymphocyte apoptosis

[Term]
id: HP:0030888
name: C3 nephritic factor positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb)." []
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030889
name: Congenital shortened small intestine
def: "Substantially shortened length of the small intestine as a result of a developmental defect." [PMID:18209785]
comment: The mean length of the small intestine in full-term newborns is approximately 240 cm, increasing to 430 cm by 15 years of age. In adults, the average small bowel length is reported to be 600 cm, with a range of 260 cm to 800 cm. Short bowel syndrome (SBS) is a clinical disorder that is characterized by diarrhea and malabsorption following the functional or anatomical loss of enough small bowel length to markedly compromise intestinal absorptive capacity. SBS may result from from surgical resection, congenital defect, or disease-associated loss of absorption. This term describes congenital shortening of the small intestine that is one phenotypic feature of SBS.
synonym: "Short bowel" RELATED []
is_a: HP:0002244 ! Abnormality of the small intestine

[Term]
id: HP:0030890
name: Hyperintensity of cerebral white matter on MRI
def: "A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter." [PMID:15576652]
synonym: "White matter hyperintensity" EXACT []
is_a: HP:0002500 ! Abnormality of the cerebral white matter
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0030891
name: Periventricular white matter hyperdensities
def: "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [PMID:15576652]
comment: See also defintion for "Deep cerebral white matter hyperdensities". These two entities are in contra-distinction to each other.
synonym: "Periventricular cerebral white matter hyperdensities" EXACT []
synonym: "Periventricular white matter hyperintensities" EXACT []
synonym: "PVWMH" EXACT HP:0045077 []
is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0030892
name: Deep cerebral white matter hyperdensities
def: "Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system." [PMID:15576652]
comment: See also defintion for "Periventricular white matter hyperdensities". These two entities are in contra-distinction to each other.
synonym: "Deep white matter hyperintensities" EXACT []
synonym: "DWMH" EXACT HP:0045077 []
is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0030893
name: Abnormal response to short acting pulmonary vasodilator
def: "Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg." [NIHR:ldaugherty, PMID:20004088]
is_a: HP:0002795 ! Functional respiratory abnormality

[Term]
id: HP:0030894
name: Insufficient response to short acting pulmonary vasodilator
def: "No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide." [NIHR:ldaugherty]
is_a: HP:0030893 ! Abnormal response to short acting pulmonary vasodilator

[Term]
id: HP:0030895
name: Abnormal gastrointestinal motility
def: "An anomaly of the muscular contractions that propel food though the gastrointestinal tract." [HPO:probinson]
synonym: "Abnormal GI motility" EXACT HP:0045077 []
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract

[Term]
id: HP:0030896
name: Abnormal gastrointestinal transit time
def: "A deviation from the normal amount of time required for food to pass through the intestines." [PMID:22206545]
comment: Gastrointestinal motility is usually described in terms of regional transit times or as intraluminal pressure changes. Scintigraphy is the gold standard for determination of gastric emptying and small intestinal transit
synonym: "Abnormal GI transit time" EXACT HP:0045077 []
is_a: HP:0030895 ! Abnormal gastrointestinal motility

[Term]
id: HP:0030897
name: Decreased intestinal transit time
def: "A reduction in the length of time required for food to pass through the intestines." [PMID:22206545]
is_a: HP:0030896 ! Abnormal gastrointestinal transit time

[Term]
id: HP:0030898
name: Pruritis on abdomen
def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen." []
is_a: HP:0000989 ! Pruritus

[Term]
id: HP:0030899
name: Pruritis on hand
def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand." []
is_a: HP:0000989 ! Pruritus

[Term]
id: HP:0030900
name: Pruritus on foot
def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot." []
synonym: "Itchy feet" EXACT layperson []
synonym: "Itchy foot" EXACT layperson []
is_a: HP:0000989 ! Pruritus

[Term]
id: HP:0030901
name: Pruritis on breast
def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast." []
is_a: HP:0000989 ! Pruritus

[Term]
id: HP:0030902
name: Palmomental reflex
def: "A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm." [HPO:probinson, PMID:12122165]
comment: The palmomental reflex is often present in normal people and may be absent in disease states. Testing merely for the presence or absence of the reflex therefore lacks both specificity and sensitivity. A strong, sustained, and easily repeatable contraction of the mentalis muscle, which can be elicited by stimulation of areas other than the palm, is more likely to indicate cerebral damage.
is_a: HP:0002476 ! Primitive reflex

[Term]
id: HP:0030903
name: Grasp reflex
def: "A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]." [HPO:probinson, PMID:12700289]
synonym: "Palmar grasp reflex" EXACT []
is_a: HP:0002476 ! Primitive reflex

[Term]
id: HP:0030904
name: Glabellar reflex
def: "A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign." [HPO:probinson]
synonym: "Myerson's sign" RELATED []
is_a: HP:0002476 ! Primitive reflex

[Term]
id: HP:0030905
name: Snout reflex
def: "A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout [NCBI Books:NBK395]." []
is_a: HP:0002476 ! Primitive reflex

[Term]
id: HP:0030906
name: Suck reflex
def: "A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched [NCBI Books:NBK395]." []
synonym: "Persistent  nutritive  suckle  swallow" EXACT []
is_a: HP:0002476 ! Primitive reflex

[Term]
id: HP:0030907
name: Thunderclap headache
def: "Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days." []
comment: The differential diagnosis of thunderclap headache (TCH) includes subarachnoid  hemorrhage, ischemic  stroke, cerebral  venous thrombosis, cervical  arterial dissection, acute hypertensive crisis, retroclival hematoma, pituitary apoplexy, and pheochromocytoma.
is_a: HP:0002315 ! Headache

[Term]
id: HP:0030908
name: Liver kidney microsome type 1 antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2)." []
comment: LKM1 is conventionally detected by immunofluorescence (IFL), a subjective technique, using rat liver, kidney, and stomach as a composite substrate.
synonym: "Anti-LKM-1 positive" EXACT []
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030909
name: Anti-liver cytosolic antigen type 1 antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction." [PMID:7806169]
comment: These autoantibodies may be observed in a subset of persons with autoimmune hepatitis.
synonym: "Anti-liver cytosol antibody-1 positivity" EXACT []
is_a: HP:0030057 ! Autoimmune antibody positivity

[Term]
id: HP:0030911
name: Bifid clitoris
def: "Two clitorides located side by side." [PMID:23650202]
comment: The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as Duplicated clitoris. A bifid clitoris is almost invariably accompanied by Epispadias, which should be coded separately.
is_a: HP:0000056 ! Abnormality of the clitoris

[Term]
id: HP:0030912
name: Duplicated clitoris
def: "Supernumerary clitoris." []
comment: The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as duplicated clitoris.
is_a: HP:0000056 ! Abnormality of the clitoris

[Term]
id: HP:0030913
name: Exaggerated rugosity of the labia majora
def: "Marked rugae formation of the skin of the labia majora." [PMID:23650202]
comment: Some rugae formation is typically found on the labia majora, but less than on the scrotum.
synonym: "Scrotum-like labia majora" EXACT []
is_a: HP:0012881 ! Abnormality of the labia majora

[Term]
id: HP:0030914
name: Abnormal peristalsis
def: "An anomaly of the wave-like muscle contractions of the digestive tract." [HPO:probinson]
is_a: HP:0002579 ! Gastrointestinal dysmotility

[Term]
id: HP:0030915
name: Cerebellar edema
def: "Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum." []
comment: Cerebellar edama can manifest on magnetic resonance imaging as hyperintense T2 and FLAIR signals, which do not show restricted diffusion.
synonym: "Cerebellar oedema" EXACT []
synonym: "Edema of the cerebellum" EXACT []
synonym: "Oedema of the cerebellum" EXACT []
is_a: HP:0001317 ! Abnormal cerebellum morphology
created_by: HPO:probinson

[Term]
id: HP:0030917
name: Low APGAR score
comment: The APGAR score was developed by Dr. Virginia Apgar to quickly assess the status of newborn children. It is determined based on scoing five criteria (Appearance, Pulse, Grimace, Activity, Respiration) on a scale of zero to two each and summing the five values. A score of 7 and above is considered normal, 4 to 6 low, and 3 or less critically low. The 1-minute score is used to assess how well the neonate tolerated the birthing process, and the 5-minute score is used to assess how well the neonate is adapting to the postnatal environment.
is_a: HP:0001197 ! Abnormality of prenatal development or birth
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:06:20Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030918
name: Low 1-minute APGAR score
comment: A normal APGAR score can be coded as 'not Low 1-minute APGAR score'.
synonym: "Low one-minute APGAR score" EXACT []
is_a: HP:0030917 ! Low APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:06:34Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030919
name: Low 5-minute APGAR score
comment: A normal APGAR score can be coded as 'not Low 5-minute APGAR score'.
synonym: "Low five-minute APGAR score" EXACT []
is_a: HP:0030917 ! Low APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:06:42Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030920
name: 5-minute APGAR score of 0
is_a: HP:0030919 ! Low 5-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:18Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030921
name: 5-minute APGAR score of 1
is_a: HP:0030919 ! Low 5-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:24Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030922
name: 5-minute APGAR score of 2
is_a: HP:0030919 ! Low 5-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:30Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030923
name: 5-minute APGAR score of 3
is_a: HP:0030919 ! Low 5-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:36Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030924
name: 5-minute APGAR score of 4
is_a: HP:0030919 ! Low 5-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:43Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030925
name: 5-minute APGAR score of 5
is_a: HP:0030919 ! Low 5-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:57Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030926
name: 5-minute APGAR score of 6
is_a: HP:0030919 ! Low 5-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:15:03Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030927
name: 1-minute APGAR score of 0
is_a: HP:0030918 ! Low 1-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:10Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030928
name: 1-minute APGAR score of 1
is_a: HP:0030918 ! Low 1-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:15Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030929
name: 1-minute APGAR score of 2
is_a: HP:0030918 ! Low 1-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:20Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030930
name: 1-minute APGAR score of 3
is_a: HP:0030918 ! Low 1-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:25Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030931
name: 1-minute APGAR score of 4
is_a: HP:0030918 ! Low 1-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:29Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030932
name: 1-minute APGAR score of 5
is_a: HP:0030918 ! Low 1-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:35Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030933
name: 1-minute APGAR score of 6
is_a: HP:0030918 ! Low 1-minute APGAR score
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:41Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030934
name: Oral erythroplakia
def: "A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed." []
comment: Oral erythroplakia may be related to local  irritants  and  infection, candida infection. Oral erythroplakia may be dysplastic or (pre-)neoplastic.
synonym: "Oral erythroplasia" EXACT []
is_a: HP:0011830 ! Abnormal oral mucosa morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:48:22Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030935
name: Abnormality of intestinal smooth muscle morphology
def: "A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine." []
is_a: HP:0002242 ! Abnormal intestine morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-02T15:17:33Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030936
name: Abnormal layering of muscularis propria
def: "Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer." [PMID:18788889, PMID:26078585]
comment: The intestinal muscularis propria is organized into discrete inner circular and outer longitudinal layers of muscle fibers that are oriented perpendicular to one another, except in the appendix, where the arrangement is more haphazard. The myenteric plexus of ganglia and nerves is sandwiched between the 2 muscle layers and is required for peristaltic activity. Maldevelopment or disruption of the neural or muscular elements can impair intestinal motility and cause intestinal pseudo-obstruction. This term refers to a malformation of the muscularis propria, with supernumerary and/or haphazard orientation of muscle fibers.
synonym: "Muscularis propria malformation" EXACT []
synonym: "Segmental additional circular muscle coat" EXACT []
is_a: HP:0030935 ! Abnormality of intestinal smooth muscle morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-02T15:21:06Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030937
name: Fibrotic muscularis propria
def: "The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process." []
is_a: HP:0030935 ! Abnormality of intestinal smooth muscle morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-02T21:21:03Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030938
name: Enteric intraneuronal nuclear inclusion bodies
def: "Aggregates of stainable substances (proteins) in the nuclei of enteric neurons." []
is_a: HP:0025029 ! Abnormality of enteric neuron morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T13:25:36Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030939
name: Palpebral thickening
def: "An increased thickness of the eyelid not related to acute inflammation." []
synonym: "Thickened but nonswollen eyelids" EXACT []
is_a: HP:0000492 ! Abnormal eyelid morphology
property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T13:46:21Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030943
name: Vulvodynia
def: "Pain in the vulvar area" []
synonym: "Vulvar pain" EXACT []
is_a: HP:0012531 ! Pain
property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T13:34:48Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030946
name: Conjunctival papillae
def: "Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells." []
comment: Papillae may be observed with papillary conjunctivitis. The inflammatory cells in the papillae may differ according to the cause. For instance, eosinophils predominate in allergic conditions and neutrophils in bacterial disease.
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T20:21:47Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030947
name: Conjunctival follicles
def: "Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells." []
comment: The follicles in follicular conjunctivitis are usually most prominent in the inferior palpebral and forniceal conjunctiva. As compared to conjunctival papillae, conjunctival follicles appear more pale on the surface and redder at the base.
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T20:23:46Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030948
name: Elevated gamma-glutamyltransferase activity
def: "Increased activity of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues." []
comment: Gamma-glutamyl transferase (GGT) is elevated with most liver diseases and with bile duct damage. Its main clinical use is in the evaluation of patients with isolated elevation in alkaline phosphatase (which can be of hepatic or bone origin). However, there are extrahepatic causes of GGT elevation including pancreatitis, prostate carcinoma, breast carcinoma, lung carcinoma, systemic lupus erythematosus, and congestive heart failure.
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T21:20:27Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030949
name: Glomerular deposits
def: "An abnormal accumulation of protein in the glomerulus." []
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T21:44:36Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030950
name: Pulmonary venous hypertension
def: "An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension." []
comment: Common causes of pulmonary venous hypertension are obstruction to left ventricular (LV) inflow, LV systolic dysfunction, severe mitral regurgitation, and acute pulmonary and systemic volume overload. As the pulmonary venous pressure nears 22 mm Hg, interstitial pulmonmary edema may develop. As it reaches 25 mm Hg, alveolar edema may ensue.
is_a: HP:0030875 ! Abnormality of pulmonary circulation
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T21:56:41Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030951
name: Skeletal muscle fibrosis
def: "Excessive formation of fibrous bands of scar tissue in between muscle fibers." [PMID:21798099]
comment: Pathophysiologic fibrosis, which is essentially an excessive accumulation of extracellular matrix components, particularly collagen, is the end result of a cascade of events proceeding from tissue injury via inflammation, and resulting in permanent scar formation. Fibrosis can impair tissue function. In skeletal muscle, fibrosis is most often associated with the muscular dystrophies.
is_a: HP:0011805 ! Abnormal muscle morphology
is_a: HP:0040290 ! Abnormality of skeletal muscles
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T22:27:25Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030952
name: Birdshot choroidal lesions
def: "Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot." []
is_a: HP:0000610 ! Abnormal choroid morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T22:33:03Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030953
name: Conjunctival hyperemia
def: "Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera." []
synonym: "Conjunctival hyperaemia" EXACT HP:0045076 []
synonym: "Conjunctival injection" EXACT []
synonym: "Conjunctival vascular congestion" EXACT []
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0025337 ! Red eye
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T22:41:03Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030955
name: Alcoholism
def: "An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol." []
is_a: HP:0030858 ! Addictive behavior
property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T22:59:58Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030956
name: Abnormality of cardiovascular system electrophysiology
def: "An anomaly of the electrical conduction physiology of the heart." []
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T17:47:04Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030957
name: Ventricular septal aneurysm
def: "A bowing (bulding to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion." []
comment: Interventricular septal aneuryms may involve either the membranous or muscular portion of the interventricular septum. Membranous interventricular septal aneurysm is more common.
synonym: "Ventricular septal dilatation" NARROW []
is_a: HP:0010438 ! Abnormal ventricular septum morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T20:01:17Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030958
name: Membranous ventricular septal aneurysm
def: "Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)." [PMID:5846101, PMID:6018320]
comment: The pars membranacea is the last portion of the septum formed in the fetus, is lo-cated between the left and right ventricles in front of the tricuspid valve, and between the left ventricle and the right atrium, behind the tricuspid valve. It lies in close proximity to the aortic and atrioventricular valves and is considered to be the weakest part of the ventricular septum. The aneurysms of the membranous portion usually measure 1 to 2 cm in all diameters and their walls are composed of fibrous tissue forming thick trabeculae when seen from the left ventricle. They can project into different portions of the right ventricle or right atrium.
synonym: "Aneurysm of the membranous ventricular septum" NARROW []
synonym: "Interventricular septum membranous part aneurysm" EXACT [ORCID:0000-0001-5208-3432]
xref: Fyler:2346
is_a: HP:0030957 ! Ventricular septal aneurysm
property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T20:04:30Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030959
name: Muscular ventricular septal aneurysm
def: "Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)." [PMID:5846101]
comment: Aneurysm of the muscular interventricular septum is a rare entity compared to aneurysms of the membranous part. The majority of cases are due to a previous history of myocardial infarction or VSD closure. Muscular interventricular septal aneurysm can arise from the basal, mid or apical part.
synonym: "Aneurysm of the muscular ventricular septum" EXACT []
is_a: HP:0030957 ! Ventricular septal aneurysm
property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T20:22:16Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030960
name: obsolete Abnormal pupillary morphology
is_obsolete: true
replaced_by: HP:0000615

[Term]
id: HP:0030961
name: Microspherophakia
def: "Lens of the eye is smaller than normal and spherically shaped." []
is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T12:55:01Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030962
name: Abnormal morphology of the great vessels
def: "A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta." []
is_a: HP:0025015 ! Abnormal vascular morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:00:44Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030963
name: obsolete Abnormal aortic morphology
is_obsolete: true
replaced_by: HP:0001679

[Term]
id: HP:0030964
name: Abnormal aortic physiology
is_a: HP:0025323 ! Abnormal arterial physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:14:14Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030965
name: Aortic stiffness
def: "The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension." [PMID:28540066]
synonym: "Increased aortic stiffness" EXACT []
is_a: HP:0030964 ! Abnormal aortic physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:16:10Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030966
name: Abnormal pulmonary artery morphology
def: "An abnormality of the structure of the pulmonary artery." []
is_a: HP:0004414 ! Abnormality of the pulmonary artery
is_a: HP:0030962 ! Abnormal morphology of the great vessels
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:29:12Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030967
name: Abnormal pulmonary artery physiology
def: "An abnormality of the function of the pulmonary artery." []
is_a: HP:0004414 ! Abnormality of the pulmonary artery
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:29:51Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030968
name: Abnormal pulmonary vein morphology
def: "An abnormality of the structure of the pulmonary veins." []
xref: Fyler:3000
is_a: HP:0011718 ! Abnormality of the pulmonary veins
is_a: HP:0030962 ! Abnormal morphology of the great vessels
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:38:34Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030969
name: Abnormal pulmonary vein physiology
def: "An abnormality of the function of the pulmonary veins." []
is_a: HP:0011718 ! Abnormality of the pulmonary veins
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:38:42Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030970
name: Abnormal vena cava physiology
def: "An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava." []
is_a: HP:0030846 ! Abnormality of venous physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:41:37Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030971
name: obsolete Abnormal vena cava morphology
is_obsolete: true
replaced_by: HP:0005345

[Term]
id: HP:0030972
name: Abnormal systemic blood pressure
def: "A chronic deviation from normal pressure in the systemic arterial system." []
synonym: "Abnormal systemic BP" EXACT HP:0045077 []
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:55:40Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030973
name: Postexertional malaise
def: "A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise." []
comment: The manifestations of postexertional malaise can include dead, heavy feeling after starting to exercise, next-day soreness or fatigue after non-strenuous, everday activities, being mentally tired after slight effort, and feeling physically drained or sick after mild activity.
synonym: "Exercise-induced fatigue" EXACT []
synonym: "Exercise-induced malaise" EXACT []
synonym: "Postexertional fatigue" EXACT []
is_a: HP:0012378 ! Fatigue
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T14:35:09Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030974
name: Cryptozoospermia
def: "A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out)." [PMID:25780588]
synonym: "Cryptospermia" EXACT []
is_a: HP:0000798 ! Oligospermia
property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T15:25:12Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030975
name: Pontine tegmental cap
def: "An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle." [PMID:17690130, PMID:18842761, PMID:25691269]
synonym: "Vaulted pontine tegmentum" EXACT []
is_a: HP:0007361 ! Abnormality of the pons
property_value: http://purl.org/dc/elements/1.1/date 2017-04-28T14:09:05Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030976
name: Abnormal factor VIII activity
def: "A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." []
is_a: HP:0010989 ! Abnormality of the intrinsic pathway
property_value: http://purl.org/dc/elements/1.1/date 2017-05-10T22:59:20Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030977
name: Increased factor VIII activity
def: "Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [ORCID:0000-0002-2826-3879]
comment: Levels of Factor VIII above 250 IU/dL are associated with an increased risk of venous thrombosis.
is_a: HP:0030976 ! Abnormal factor VIII activity
property_value: http://purl.org/dc/elements/1.1/date 2017-05-10T23:00:13Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030978
name: Decreased CSF/serum albumin ratio
def: "A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration." [ORCID:0000-0003-0169-8159, PMID:27388694]
is_a: HP:0030981 ! Abnormal CSF/serum albumin ratio
property_value: http://purl.org/dc/elements/1.1/date 2017-06-05T10:50:18Z xsd:string
created_by: HPO:probinson

[Term]
id: HP:0030979
name: Dilatation of large choroidal vessels
def: "Enlargement of the large blood vessels in the choroid." [PMID:26026923]
comment: Choroidal thickening can be a feature of central serous chorioretinopathy and results from focal or diffuse dilatation of large choroidal vessels, which are commonly localized within areas of increased choroidal vascular permeability on indocyanine green angiography.
synonym: "Dilated choroidal vessels" EXACT []
is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature
property_value: http://purl.org/dc/elements/1.1/date 2017-05-10T23:59:11Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030980
name: Reduced brain glutamine level by MRS
def: "An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:24123328]
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T09:56:23Z xsd:string
created_by: HPO:probinson

[Term]
id: HP:0030981
name: Abnormal CSF/serum albumin ratio
def: "A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF." [PMID:27388694]
is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid
created_by: HPO:probinson

[Term]
id: HP:0030983
name: Ovarian thecoma
def: "A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types." [NCIT:C1882229, PMID:27284435]
is_a: HP:0031918 ! Ovarian sex cord-stromal tumor
property_value: http://purl.org/dc/elements/1.1/date 2017-05-31T00:22:37Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0030984
name: Abnormal serum bile acid concentration
def: "A deviation from the normal concentration of serum bile acid concentration." []
comment: There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesised in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulphate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to seconday bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting.
is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid cocentration
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T12:45:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030985
name: Decreased serum bile concentration
def: "A reduction in the concentration of bile acid in the blood." []
is_a: HP:0030984 ! Abnormal serum bile acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:02:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030986
name: Biliary epithelial hyperplasia
def: "Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen." [PMID:21994886]
is_a: HP:0012440 ! Abnormal biliary tract morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:29:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030987
name: Suppurative cholangitis
def: "Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess)." [PMID:21994886]
comment: A microbial infection is often for suppurative cholangitis, but the change also occurs in the presence of sterile bile, particularly after bile extravasation. The release of chemokines or cytokines is the likely cause in some cases.
is_a: HP:0030151 ! Cholangitis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:33:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030988
name: Granulomatous cholangitis
def: "Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts." [PMID:22333006]
comment: Granulomatous cholangitis involving the interlobular bile ducts constitutes the hallmark of primary biliary cholangitis and is also found in drug-induced liver disease and sarcoidosis.
is_a: HP:0030151 ! Cholangitis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:35:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030989
name: Lymphoid cholangitis
def: "Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement." [PMID:21994886]
is_a: HP:0030151 ! Cholangitis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:40:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030990
name: Pleomorphic cholangitis
def: "Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree." []
is_a: HP:0030151 ! Cholangitis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:41:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030991
name: Sclerosing cholangitis
def: "Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative." []
synonym: "Fibrous cholangitis" EXACT []
is_a: HP:0030151 ! Cholangitis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:42:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030992
name: Abnormal pancreatic duct morphology
def: "Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and and transports them to the duodenum." [PMID:24265565]
comment: The pancreas develops from dorsal and ventral buds that first appear in the fifth gestational week as outgrowths of the primitive foregut. By the seventh gestational week, expansion of the duodenum causes the ventral bud to rotate and pass behind the duodenum from right to left and fuse with the dorsal bud. The ventral bud forms the posterior head and uncinate process, whereas the dorsal bud forms the anterior head, body, and tail. Following this fusion, the ductal systems anastomose, a complicated process with a wide spectrum of possible outcomes. The portion of the ventral duct between the dorsal-ventral fusion and major papilla is termed the duct of Wirsung. The portion of the dorsal duct upstream to the dorsalventral fusion point is called the main pancreatic duct. The segment of the dorsal duct downstream to the dorsal-ventral fusion point is termed the duct of Santorini, or accessory pancreatic duct, which drains at the papilla minor [PMID:242655659].
is_a: HP:0012090 ! Abnormal pancreas morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:51:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030993
name: Duplication of pancreatic duct
def: "A congenital anomaly characterized by the presence of two separate pancreatic ducts." []
synonym: "Duplicated pancreatic duct" EXACT []
is_a: HP:0030992 ! Abnormal pancreatic duct morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:55:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030994
name: Pancreas divisum
def: "A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present." [PMID:24265565]
comment: In pancreas divisum, the majority of the pancreatic gland drains into the minor papilla via the duct of Santorini, whereas the posterior head and uncinate process drain into the major papilla via the duct of Wirsung with the common bile duct. Although most patients are asymptomatic, in some patients, this anomaly is associated with recurrent acute pancreatitis because of inadequate drainage of pancreatic secretions via the minor papilla.
is_a: HP:0012090 ! Abnormal pancreas morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:56:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030995
name: Peritoneal effusion
def: "An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen)." []
is_a: HP:0002585 ! Abnormality of the peritoneum
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T14:07:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030996
name: Megaduodenum
def: "Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum." []
comment: Megaduodenum may present with a feeling of gastric fullness, epigastric pain, belching, heartburn, and nausea with vomiting.
is_a: HP:0002246 ! Abnormality of the duodenum
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T14:10:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030997
name: Atretic vas deferens
def: "Abnormal closure or blockage of the vas deferens." []
synonym: "Atresia of the vas deferens" EXACT []
synonym: "Vas deferens atresia" EXACT []
is_a: HP:0012872 ! Abnormal vas deferens morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T14:13:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030998
name: Cerebrospinal fluid rhinorrhoea
def: "Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose." [PMID:17767107]
comment: CSF rhinorrhea or liquorrhoea commonly occurs following head trauma (fronto-basal skull fractures), as a result of intracranial surgery, or destruction lesions. A spinal fluid leak from the intracranial space to the nasal respiratory tract is potentially very serious because of the risk of an ascending infection which could produce fulminant meningitis.
synonym: "CSF rhinorrhoea" EXACT HP:0045077 []
is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T18:30:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0030999
name: Abnormal vestibular saccule morphology
def: "Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement)." []
is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T18:38:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031000
name: Vestibular saccular degeneration
def: "Deterioration or loss of the tissues of the saccule of the vestibule." []
is_a: HP:0030999 ! Abnormal vestibular saccule morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:01:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031001
name: Minifascicle formation
def: "A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diamter than a normal nerve fascicle." []
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:08:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031002
name: Neuritis
def: "Inflammation of a nerve." []
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:14:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031003
name: Polyneuritis
def: "Simulataneous inflammation of multiple nerves." []
synonym: "Multiple neuritis" EXACT []
is_a: HP:0031002 ! Neuritis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:14:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031004
name: Hemiareflexia
def: "Areflexia that is limited to one side of the body." [PMID:6722516]
is_a: HP:0001284 ! Areflexia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:18:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031005
name: Hyperalgesia
def: "Abnormally increased sensitivity to pain." []
is_a: HP:0010832 ! Abnormality of pain sensation
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:21:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031006
name: Acroparesthesia
def: "A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes." []
is_a: HP:0003401 ! Paresthesia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:23:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031007
name: Orofacial action-specific dystonia induced by speech
synonym: "Jaw dystonia induced by speaking" RELATED []
is_a: HP:0012179 ! Craniofacial dystonia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T21:07:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031008
name: Lingual dystonia
def: "Involuntary protrusions, movements, spams and contortions of the tongue." [PMID:24808861]
comment: Tongue dystonia may be triggered by speaking but not during other tasks such as eating, drinking, whistling, and blowing.
synonym: "Tongue dystonia" EXACT []
is_a: HP:0012179 ! Craniofacial dystonia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T21:10:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031009
name: Ainhum
def: "Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation." []
synonym: "Dactylolysis spontanea" EXACT []
xref: PMID:26379327
is_a: HP:0001780 ! Abnormality of toe
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T21:33:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031010
name: Hyperphalangy of the 3rd finger
def: "An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the finger." []
synonym: "Hyperphalangy of third finger" EXACT []
is_a: HP:0030367 ! Finger hyperphalangy
property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T21:44:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031011
name: Fatty streak
def: "Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV." [PMID:8181179]
comment: Some early studies used the terms sudanophilic lesion or sudanophilia to refer to fatty streaks.
synonym: "Sudanophilic lesion" RELATED []
is_a: HP:0002621 ! Atherosclerosis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T02:35:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031012
name: Thin-cap fibroatheroma
def: "Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis." [PMID:27500096]
synonym: "TCFA" EXACT HP:0045077 []
is_a: HP:0002621 ! Atherosclerosis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T02:45:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031013
name: Ankylosis
def: "A reduction of joint mobility resulting from changes involving the articular surfaces." []
comment: Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces.
is_a: HP:0001376 ! Limitation of joint mobility
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T02:58:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031014
name: Arteria lusoria
def: "Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria." [PMID:25105156]
synonym: "Aberrant right subclavian artery" EXACT []
synonym: "Lusorian artery" EXACT []
is_a: HP:0031251 ! Abnormal subclavian artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T03:40:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031015
name: Intrahepatic portal vein sclerosis
def: "Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices." [PMID:25796481]
comment: The diagnosis is based on histological examination of the liver. Clinical manifestations include encephalopathy, ascites and variceal bleeding.
synonym: "Idiopathic non-cirrhotic portal hypertension" RELATED []
synonym: "Incomplete septal cirrhosis" RELATED []
synonym: "Non cirrhotic portal fibrosis" RELATED []
synonym: "Obliterative portal venopathy" RELATED []
is_a: HP:0031941 ! Abnormal portal venous system morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-20T11:15:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031016
name: Alternating radiolucent and radiodense metaphyseal lines
def: "Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra." [PMID:28384951]
comment: In cases where this sign arises in children treated with bisphosphonates, the sign is known as the zebra stripe sign, which is radiological manifestation of cyclical bisphosphonate therapy prior to closure of epiphyseal growth plates.
synonym: "Zebra stripe sign" RELATED []
is_a: HP:0000944 ! Abnormality of the metaphysis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-20T11:32:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031017
name: Swiss cheese atrial septal defect
def: "Multiple defects in the atrial septum." [PMID:18559707]
comment: The label derives from the resemblance of the multiple atrial defects to Emmental cheese, a medium-hard cheese of Swiss origin that features characteristic holes.
is_a: HP:0001631 ! Atrial septal defect
property_value: http://purl.org/dc/elements/1.1/date 2017-05-20T11:43:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031018
name: Eccrine syringofibroadenoma
def: "Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA)." [NCIT:CL017969, PMID:26937300]
synonym: "Acrosyringeal adenomatosis" EXACT []
synonym: "Eccrine syringofibroadenomatous hyperplasia" EXACT []
synonym: "Syringofibroadenoma" EXACT []
is_a: HP:0008069 ! Neoplasm of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-05-31T00:32:10Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031019
name: Pyknotic bone marrow neutrophils
def: "Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments." []
is_a: HP:0011992 ! Abnormality of neutrophil morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-14T16:30:54Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031020
name: Bone marrow hypercellularity
def: "A larger than normal amount or percentage of hematopoietic cells relative to marrow fat." []
is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow
property_value: http://purl.org/dc/elements/1.1/date 2017-06-14T16:35:25Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031021
name: Squamous Papilloma
def: "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]." []
xref: NCIT:C3712
is_a: HP:0012740 ! Papilloma
property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:13:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031022
name: Oropharyngeal squamous papilloma
def: "A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]." []
xref: NCIT:C6038
is_a: HP:0031021 ! Squamous Papilloma
property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:15:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031023
name: Multiple mucosal neuromas
def: "Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath." [PMID:16702501]
xref: NCIT:C6559
is_a: HP:0030430 ! Neuroma
property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:18:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031024
name: Cylindroma
def: "A benign skin adnexal tumor of eccrine differentiation." [NCIT:C27094, PMID:27294061]
comment: Cylindromas can be single or multiple and commonly involve the scalp (turban tumor) and face. Multiple cylindromas can have a syndromic association as seen in Brooke-Spiegler syndrome and familial cylindromatosis.
is_a: HP:0012842 ! Skin appendage neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:32:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031025
name: Gastric leiomyosarcoma
def: "A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible." [NCIT:C27200, PMID:25069607]
comment: Gastric leiomyosarcomas are often clinically silent until they reach a large size, bleed or rupture. Thus, the diagnosis is rarely made preoperatively. Since in many cases the mucosa is normal, a definitive diagnosis for resectable tumour is often made after surgery. Seeding of tumour deposits into the serosa or omentum is almost invariably a sign of malignancy.
is_a: HP:0006753 ! Neoplasm of the stomach
property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:42:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031026
name: Snail-like ilia
def: "The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature." [PMID:3799723]
comment: This feature was first observed in a condition that was termed Schneckenbecken dysplasia, Schneckenbecken is a German word that means snail-like pelvis.
synonym: "Schneckenbecken dysplasia" RELATED []
synonym: "Snail-like pelvis" EXACT []
synonym: "Snail-shaped ilia" EXACT []
is_a: HP:0002867 ! Abnormality of the ilium
property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T15:50:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031027
name: Internal notch of the femoral head
def: "A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546." [PMID:11694546, PMID:24339047]
is_a: HP:0003368 ! Abnormality of the femoral head
property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T16:09:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031028
name: Lactescent serum
def: "Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level." [PMID:15368719]
comment: The normal range for serum triglycerides can be taken to be 40 to 150 mg per dL (0.45 to 1.69 mmol per L). Lactescent serum can be seen with triglyceride levels of several thousand mg per dL.
synonym: "Milk-like serum" EXACT []
synonym: "Plasma lactescence" EXACT []
is_a: HP:0002155 ! Hypertriglyceridemia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:37:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031029
name: Elevated carcinoembryonic antigen level
def: "An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker." [PMID:11274010]
synonym: "Increased plasma CEA" EXACT HP:0045077 []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:48:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031030
name: Elevated carcinoma antigen 125 level
def: "An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer." [PMID:16343244]
synonym: "Increased plasma CA125" EXACT HP:0045077 []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:54:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031031
name: Abnormal retinol-binding protein level
def: "A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol." [PMID:14749226]
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:59:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031032
name: Decreased retinol-binding protein level
def: "A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity." [PMID:14749226]
is_a: HP:0031031 ! Abnormal retinol-binding protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:03:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031033
name: Impaired urinary acidification
def: "The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect." [PMID:6876936]
synonym: "Renal acidification defect" EXACT []
is_a: HP:0012211 ! Abnormal renal physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:07:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031034
name: Abnormal insulin like growth factor binding protein acid labile subunit level
def: "A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier." [PMID:20142246]
comment: Plasma IGFALS is positively associated with prostate cancer risk.
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:20:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031035
name: Chronic infection
def: "Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection." []
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2017-06-14T16:40:44Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031036
name: Reduced growth-hormone binding protein level
def: "A decreased blood concentration of growth hormone binding protein." []
synonym: "Decreased plasma GH-binding protein" EXACT HP:0045077 []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:34:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031037
name: Reduced insulin-like factor 3 level
def: "Blood concentration of insulin-like factor 3 (ILF3) is below normal limits." [PMID:24640568]
comment: Insulin-like factor 3 (INSL3) is a peptide hormone produced in leydig cells of the testes. Its role in the adult male is unknown but INSL3 and its receptor RXFP2 have been linked to bone cell differentiation. It is speculated that low levels of INSL3 could be responsible for low bone mineral density in patients with primary osteoporosis and Klinefelter Syndrome.
synonym: "Reduced plasma INSL3 level" EXACT HP:0045077 []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:44:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031038
name: Spermatogenesis maturation arrest
def: "Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa." [PMID:21684558]
comment: Maturation arrest (MA) of spermatogenesis is diagnosed on histology as interruption of spermatogenesis before the final stage without impairment of Sertoli or Leydig cells. It is considered a condition of irreversible or absolute infertility.
synonym: "Meiotic maturation arrest of spermatogenesis" EXACT []
is_a: HP:0008669 ! Abnormal spermatogenesis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:49:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031039
name: Early spermatogenesis maturation arrest
def: "A type of maturation arrest in which only spermatogonia or spermatocytes are found." [PMID:21684558]
is_a: HP:0031038 ! Spermatogenesis maturation arrest
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:50:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031040
name: Late spermatogenesis maturation arrest
def: "A type of maturation arrest in which spermatids are detected without spermatozoa." [PMID:21684558]
synonym: "Maturation arrest of spermatogenesis at spermatid stage" EXACT []
is_a: HP:0031038 ! Spermatogenesis maturation arrest
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:51:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031041
name: Obstruction of the superior vena cava
def: "Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction." []
comment: Diagnosis of superior vena cava obstruction may be made by computed tomography with contrast and other means.
synonym: "Superior vena cava obstruction" EXACT []
synonym: "Superior vena cava syndrome" RELATED []
is_a: HP:0025575 ! Abnormal superior vena cava morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T12:23:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031042
name: Strawberry tongue
def: "Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry." [PMID:26222562]
synonym: "Raspberry tongue" EXACT []
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T13:34:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031043
name: Type A4 brachydactyly
def: "A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits." [PMID:8387724]
is_a: HP:0009370 ! Type A brachydactyly
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T13:45:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031044
name: Type A5 brachydactyly
def: "A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5." [PMID:18554391]
comment: Individuals with BDA5 may have nail dysplasia; this should be coded separately.
is_a: HP:0009370 ! Type A brachydactyly
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T13:48:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031045
name: Acral blistering
def: "Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet=." []
is_a: HP:0008066 ! Abnormal blistering of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:02:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031046
name: Absent soft palate
def: "A developmental defect characterized by lack of a soft palate." [PMID:11420024]
synonym: "Agenesis of the soft palate" EXACT []
is_a: HP:0100736 ! Abnormal soft palate morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:06:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031047
name: Paraproteinemia
def: "An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells." [PMID:17403946]
comment: A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy.
synonym: "Monoclonal hypergammaglobulinemia" EXACT []
is_a: HP:0010702 ! Increased antibody level in blood
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:25:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031048
name: Light-chain paraproteinemia
def: "An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." []
is_a: HP:0031047 ! Paraproteinemia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:28:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031049
name: Heavy-chain paraproteinemia
def: "An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." []
is_a: HP:0031047 ! Paraproteinemia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:29:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031050
name: Whole-immunoglobulin paraproteinemia
def: "An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells." []
is_a: HP:0031047 ! Paraproteinemia
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:30:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031051
name: Tarsal sclerosis
def: "An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity." []
is_a: HP:0009132 ! Abnormal tarsal bone mineral density
is_a: HP:0100925 ! Sclerosis of foot bone
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:41:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031052
name: Elevated vascular endothelial growth factor level
def: "Increased blood concentration of vascular endothelial growth factor (VEGF)." []
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T15:09:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031053
name: Coarctation in the transverse aortic arch
def: "Narrowing or constriction of the aorta localized to the region of the transverse aortic arch." []
is_a: HP:0001680 ! Coarctation of aorta
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:07:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031054
name: Long segment coarctation of the aorta
def: "Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta." [PMID:23909637]
is_a: HP:0001680 ! Coarctation of aorta
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:10:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031055
name: Abnormal branching pattern of left aortic arch
def: "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch)." []
is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:24:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031056
name: Fusiform cerebral aneurysm
def: "A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery." []
synonym: "Intracranial fusiform aneurysm" EXACT []
is_a: HP:0004944 ! Dilatation of the cerebral artery
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:29:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031057
name: Skin fissure
def: "A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis." []
synonym: "Cracked skin" EXACT layperson []
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:57:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031058
name: Impairment of activities of daily living
def: "Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure." []
is_a: HP:0025142 ! Constitutional symptom
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:14:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031059
name: Impaired ability to bathe oneself
def: "This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing." [PMID:10362969]
is_a: HP:0031058 ! Impairment of activities of daily living
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:16:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031060
name: Impaired ability to dress oneself
def: "This applies to an individual who needs help with dressing or needs to be completely dressed." [PMID:10362969]
is_a: HP:0031058 ! Impairment of activities of daily living
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:21:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031061
name: Impaired toileting ability
def: "This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode." []
is_a: HP:0031058 ! Impairment of activities of daily living
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:22:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031062
name: Impaired transferring ability
def: "Applies to an individual who needs help in moving from bed to chair or requires a complete transfer." [PMID:10362969]
is_a: HP:0031058 ! Impairment of activities of daily living
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:23:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031063
name: Impaired feeding ability
def: "Applies to an individual who needs partial or total help with feeding or requires parenteral feeding." []
is_a: HP:0031058 ! Impairment of activities of daily living
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:24:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031064
name: Impaired continence
def: "Partial or total incontinence of bowel or bladder." []
is_a: HP:0031058 ! Impairment of activities of daily living
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:29:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031065
name: Abnormal ovarian morphology
is_a: HP:0000137 ! Abnormality of the ovary
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:32:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031066
name: Abnormal ovarian physiology
def: "Any anomaly of ovarian function." []
is_a: HP:0000137 ! Abnormality of the ovary
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:33:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031067
name: Empty ovarian follicle
def: "A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization." [PMID:19562053]
comment: Empty follicle syndrome (EFS) has been defined as a condition in which no oocytes are retrieved from mature ovarian follicles with apparently normal follicular development and estradiol levels, after COH for an assisted reproductive technology (ART) cycle, despite repeated aspiration and flushing.
synonym: "Empty follicle syndrome" RELATED []
is_a: HP:0031066 ! Abnormal ovarian physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:37:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031068
name: Increased femoral torsion
def: "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range." []
is_a: HP:0031069 ! Abnormal femoral torsion
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:50:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031069
name: Abnormal femoral torsion
def: "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range." []
is_a: HP:0002823 ! Abnormality of femur morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:59:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031070
name: Decreased femoral torsion
def: "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range." []
is_a: HP:0031069 ! Abnormal femoral torsion
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:59:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031071
name: Abnormal endocrine morphology
def: "Any anomaly of the structure of an organ ofthe endocrine system." []
is_a: HP:0000818 ! Abnormality of the endocrine system
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:11:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031072
name: Abnormal endocrine physiology
def: "Any anomaly of the function of the endocrine system." []
is_a: HP:0000818 ! Abnormality of the endocrine system
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:12:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031073
name: Abnormal response to endocrine stimulation test
def: "An anomalous response to a test that is designed to probe the function of the endocrine system." []
is_a: HP:0031072 ! Abnormal endocrine physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:14:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031074
name: Abnormal response to ACTH stimulation test
def: "An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline." []
comment: Corticotropin is another term for ACTH.
synonym: "Abnormal response to adrenocorticotropic-hormone stimulation test" EXACT []
synonym: "Abnormal response to corticotropin stimulation test" EXACT []
is_a: HP:0031073 ! Abnormal response to endocrine stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:15:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031075
name: Abnormal response to insulin tolerance test
def: "An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measred at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level." []
is_a: HP:0031073 ! Abnormal response to endocrine stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:17:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031076
name: Impaired cortisol response to insulin stimulation test
def: "Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT)." []
is_a: HP:0031075 ! Abnormal response to insulin tolerance test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:23:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031077
name: Abnormal response to corticotropin releasing hormone stimulation test
def: "An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals." []
synonym: "Abnormal response to CRH stimulation test" EXACT HP:0045077 []
is_a: HP:0031073 ! Abnormal response to endocrine stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:25:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031078
name: Impaired cortisol response to corticotropin releasing hormone stimulation test
def: "Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test." []
is_a: HP:0031077 ! Abnormal response to corticotropin releasing hormone stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:29:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031079
name: Impaired growth-hormone response to insulin stimulation test
def: "Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT)." []
is_a: HP:0031075 ! Abnormal response to insulin tolerance test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:33:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031080
name: Abnormal response to glucagon stimulation test
def: "An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH)." []
is_a: HP:0031072 ! Abnormal endocrine physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:47:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031081
name: Impaired cortisol response to glucagon stimulation test
def: "Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test." []
is_a: HP:0031080 ! Abnormal response to glucagon stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:49:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031082
name: Impaired growth-hormone response to glucagon stimulation test
def: "Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test." []
is_a: HP:0031080 ! Abnormal response to glucagon stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:49:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031083
name: Abnormal response to human chorionic gonadotrophin stimulation test
def: "An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors." []
synonym: "Abnormal response to hCG stimulation test" EXACT HP:0045077 []
is_a: HP:0031072 ! Abnormal endocrine physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:53:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031084
name: Excessive insulin response to glucagon test
def: "An abnormally high increase in insulin levels following a glucagon stimulation test." [PMID:21791970]
is_a: HP:0031080 ! Abnormal response to glucagon stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:02:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031085
name: Decreased prealbumin level
def: "A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status." [PMID:17138848]
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:10:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031086
name: Ectopic ovary
def: "Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels." [PMID:12584384]
synonym: "Undescended ovary" EXACT []
is_a: HP:0031065 ! Abnormal ovarian morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:18:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031087
name: Absent pubertal growth spurt
def: "The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur." []
synonym: "Absent adolescent growth spurt" EXACT []
is_a: HP:0001510 ! Growth delay
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:29:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031088
name: Vaginal dryness
def: "Persistent vaginal dryness." [PMID:21702402]
is_a: HP:0000142 ! Abnormal vagina morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:50:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031089
name: Palatal edema
def: "Swelling related to fluid accumulation within the palate." []
synonym: "Palate edema" EXACT []
is_a: HP:0000174 ! Abnormal palate morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:54:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031090
name: Finger dactylitis
def: "Fingers appear swollen and plump owing to inflammation of the complete finger." []
synonym: "Sausage fingers" EXACT layperson []
is_a: HP:0001167 ! Abnormality of finger
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:57:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031091
name: Toe dactylitis
def: "Toes appear swollen and plump owing to inflammation of the complete toe." []
synonym: "Sausage toes" EXACT layperson []
is_a: HP:0001780 ! Abnormality of toe
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T01:00:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031092
name: Spindle-shaped finger
def: "Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base)." []
is_a: HP:0001167 ! Abnormality of finger
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T01:07:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031093
name: Abnormal breast morphology
def: "Any anomaly of the structure of the breast." []
is_a: HP:0000769 ! Abnormality of the breast
property_value: http://purl.org/dc/elements/1.1/date 2017-06-30T15:41:38Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031094
name: Abnormal breast physiology
def: "Any anomaly of the function of the breast." []
is_a: HP:0000769 ! Abnormality of the breast
property_value: http://purl.org/dc/elements/1.1/date 2017-06-30T15:42:09Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031095
name: Abnormal humerus morphology
def: "Any anomaly of the structure of the humerus." []
is_a: HP:0003063 ! Abnormality of the humerus
is_a: HP:0011314 ! Abnormality of long bone morphology
is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T01:22:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031096
name: Delayed vertebral ossification
def: "A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age." []
is_a: HP:0100569 ! Abnormally ossified vertebrae
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:04:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031097
name: Abnormal thyroid-stimulating hormone level
def: "Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland." []
synonym: "Abnormal circulating thyrotropin concentration" EXACT []
synonym: "Abnormal thyrotropin level" EXACT []
synonym: "Abnormal TSH level" EXACT HP:0045077 []
is_a: HP:0012503 ! Abnormality of the pituitary gland
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:12:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031098
name: Decreased thyroid-stimulating hormone level
def: "Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland." []
synonym: "Decreased plasma TSH" EXACT HP:0045077 []
synonym: "Decreased thyrotropin level" EXACT []
is_a: HP:0031097 ! Abnormal thyroid-stimulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:13:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031099
name: Abnormal circulating inhibin level
def: "Any deviation from the normal concentration of iInhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone." [PMID:12790766]
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:18:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031100
name: Decreased inhibin B level
def: "A reduced concentration of inhibin B in the blood." [PMID:11720872]
comment: Inhibin B, a dimer with an alpha and a betaB subunit, is produced exclusively by the testis and controls FSH secretion via a negative feedback mechanism.
is_a: HP:0031099 ! Abnormal circulating inhibin level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:19:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031101
name: Abnormal antimullerian hormone level
def: "Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases." [PMID:22693172]
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:34:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031102
name: Increased antimullerian hormone level
def: "An elevation above the normal range of the antimullerian hormone in the circulation." []
synonym: "Increased plasma AMH" EXACT HP:0045077 []
is_a: HP:0031101 ! Abnormal antimullerian hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:37:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031103
name: Decreased antimullerian hormone level
def: "A reduction below the normal range of the antimullerian hormone in the circulation." []
synonym: "Decreased plasma AMH" EXACT HP:0045077 []
is_a: HP:0031101 ! Abnormal antimullerian hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:37:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031104
name: Insulin receptor antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor." [PMID:3280181]
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:42:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031105
name: Abnormal uterus morphology
def: "Any anomaly of the structure of the uterus" []
is_a: HP:0000130 ! Abnormality of the uterus
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:52:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031106
name: T-shaped uterus
def: "An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging." [PMID:23771171]
is_a: HP:0031105 ! Abnormal uterus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:53:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031107
name: Decreased fibular diameter
def: "Reduced width of the cross sectional diameter of the fibula." []
synonym: "Thin fibula" EXACT []
is_a: HP:0002991 ! Abnormality of fibula morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T03:09:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031108
name: Triceps weakness
def: "A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements." []
is_a: HP:0008997 ! Proximal muscle weakness in upper limbs
property_value: http://purl.org/dc/elements/1.1/date 2017-06-09T10:13:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031109
name: Agalactia
def: "Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant." []
synonym: "Lactation incapacity" EXACT []
is_a: HP:0031094 ! Abnormal breast physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-30T15:43:23Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031110
name: Twin-to-twin transfusion
def: "As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure." [PMID:19283655]
synonym: "Twin to twin transfusion syndrome" RELATED []
is_a: HP:0001197 ! Abnormality of prenatal development or birth
property_value: http://purl.org/dc/elements/1.1/date 2017-06-30T16:02:43Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031111
name: Cutaneous hamartoma
def: "A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin." []
synonym: "Skin hamartoma" EXACT []
is_a: HP:0010566 ! Hamartoma
property_value: http://purl.org/dc/elements/1.1/date 2017-08-31T23:10:53Z xsd:dateTime
created_by: robinp

[Term]
id: HP:0031117
name: Purely bicuspid aortic valve
def: "A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis." [PMID:17467434]
is_a: HP:0001647 ! Bicuspid aortic valve
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T11:41:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031118
name: Single raphe bicuspid aortic valve
def: "A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size." [PMID:17467434, PMID:24827036]
is_a: HP:0001647 ! Bicuspid aortic valve
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T11:46:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031119
name: Bicuspid aortic valve with right-left cusp fusion
def: "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure." [PMID:17467434, PMID:24827036]
is_a: HP:0031118 ! Single raphe bicuspid aortic valve
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T11:48:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031120
name: Bicuspid aortic valve with right-noncoronary cusp fusion
def: "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure." []
is_a: HP:0031118 ! Single raphe bicuspid aortic valve
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:00:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031121
name: Bicuspid aortic valve with left-noncoronary cusp fusion
def: "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure." []
is_a: HP:0031118 ! Single raphe bicuspid aortic valve
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:04:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031122
name: Two-raphe bicuspid aortic valve
def: "A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis." [PMID:17467434]
is_a: HP:0001647 ! Bicuspid aortic valve
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:06:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031123
name: Recurrent gastroenteritis
def: "Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis." []
is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:26:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031124
name: Decreased platelet thromboxane A2 receptor
def: "Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2)." []
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:30:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031125
name: Decreased platelet alpha-2A-adrenergic receptor
def: "Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine." []
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:30:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031126
name: Impaired clot retraction
def: "Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration." []
is_a: HP:0011869 ! Abnormal platelet function
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:31:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031127
name: Impaired convulxin-induced platelet aggregation
def: "Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin." []
is_a: HP:0003540 ! Impaired platelet aggregation
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:31:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031128
name: Impaired collagen-related peptide-induced platelet aggregation
def: "Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP." []
is_a: HP:0003540 ! Impaired platelet aggregation
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:32:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031129
name: Impaired phorbol myristate acetate-induced platelet aggregation
def: "Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA." []
is_a: HP:0003540 ! Impaired platelet aggregation
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:32:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031130
name: Impaired calcium ionophore-induced platelet aggregation
def: "Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore." []
synonym: "Impaired Ca ionophore-induced platelet aggregation" EXACT HP:0045077 []
synonym: "Impaired Ca2+ ionophore-induced platelet aggregation" EXACT HP:0045077 []
is_a: HP:0003540 ! Impaired platelet aggregation
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:33:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031131
name: Abnormal platelet phosphatidylserine exposure
def: "An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement." [PMID:12814644]
is_a: HP:0011869 ! Abnormal platelet function
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:34:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031132
name: Impaired annexin V binding to platelet phosphatidylserine
def: "Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry." []
is_a: HP:0031131 ! Abnormal platelet phosphatidylserine exposure
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:39:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031133
name: Increased annexin V binding to platelet phosphatidylserine
def: "Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry." []
is_a: HP:0031132 ! Impaired annexin V binding to platelet phosphatidylserine
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:54:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031134
name: Cor triatrium sinister
def: "A developmental anomaly of the heart characterizedby the presence of three atria because the left atrium is divided by an abnormal septum." [PMID:22379596]
is_a: HP:0010774 ! Cor triatriatum
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T13:02:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031135
name: Triggered by physical trauma
def: "Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue)." []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T13:29:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031136
name: Decreased acrosin in sperm head
def: "A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process." []
is_a: HP:0012865 ! Sperm head anomaly
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T15:21:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031137
name: Storage in hepatocytes
def: "Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material." []
is_a: HP:0410042 ! Abnormal liver morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T15:30:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031138
name: Abnormal B-type natriuretic peptide level
def: "A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP)." [PMID:22145138]
comment: Increased plasma levels of circulating natriuretic peptides (NP) have been described in patients with congestive heart failure and are directly proportional to the severity of congestive heart failure as classified by the New York Heart Association criteria.
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T18:39:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031139
name: Frog-leg posture
def: "A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog." []
is_a: HP:0001252 ! Muscular hypotonia
property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T22:38:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031140
name: Abnormal liver sonography
def: "An abnormal appearance of the liver or any of its components on sonography (ultrasound)." []
is_a: HP:0410042 ! Abnormal liver morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:18:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031141
name: Increased hepatic echogenicity
def: "Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device." [PMID:21472065]
synonym: "Hyperechogenic liver" EXACT []
is_a: HP:0031142 ! Abnormal hepatic echogenicity
property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:19:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031142
name: Abnormal hepatic echogenicity
def: "Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen)." [PMID:21472065]
is_a: HP:0031140 ! Abnormal liver sonography
property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:20:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031143
name: Decreased hepatic echogenicity
def: "Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device." [PMID:21472065]
synonym: "Hypoechogenic liver" EXACT []
is_a: HP:0031142 ! Abnormal hepatic echogenicity
property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:23:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031144
name: Coarsened hepatic echotexture
def: "The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography." []
is_a: HP:0031140 ! Abnormal liver sonography
property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:31:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031145
name: Starry sky appearance on hepatic sonography
def: "An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background)." [PMID:26157918]
is_a: HP:0031140 ! Abnormal liver sonography
property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:50:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031146
name: Impaired oral bolus formation
def: "An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed." [PMID:16776766]
is_a: HP:0002015 ! Dysphagia
property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T20:31:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031150
name: Vitreomacular adhesion
def: "Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions." [PMID:24053995]
synonym: "VMA" EXACT HP:0045077 []
is_a: HP:0001103 ! Abnormal macular morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:09:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031151
name: Vitreomacular traction
def: "Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad." [PMID:24053995]
synonym: "VMT" EXACT HP:0045077 []
is_a: HP:0001103 ! Abnormal macular morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:11:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031152
name: Full-thickness macular hole
def: "Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction." [PMID:24053995]
synonym: "FTMH" EXACT HP:0045077 []
is_a: HP:0011508 ! Macular hole
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:12:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031153
name: Membranous vitreous appearance
def: "Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane." [PMID:20513134, PMID:21921955]
synonym: "Membranous anomaly" EXACT []
synonym: "Membranous vitreous" EXACT []
synonym: "Membranous vitreous phenotype" EXACT []
is_a: HP:0004327 ! Abnormal vitreous humor morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:16:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031154
name: Beaded vitreous appearance
def: "Vitreous humor of the eye displaying beaded bundles of irregular diameters." [PMID:20513134, PMID:21921955]
is_a: HP:0004327 ! Abnormal vitreous humor morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:18:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031155
name: Increased Arden ratio of electrooculogram
def: "An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record." []
synonym: "Increased Arden ratio of EOG" EXACT HP:0045077 []
is_a: HP:0030454 ! Abnormal electrooculogram
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:19:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031156
name: Decreased platelet glycoprotein Ib
def: "Decreased platelet cell membrane concentration of glycoprotein Ib." [PMID:11157507]
is_a: HP:0011878 ! Abnormal platelet membrane protein expression
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:22:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031157
name: Carotid cavernous fistula
def: "An abnormal connection between a carotid artery and the cavernous sinus." [PMID:23571267]
comment: The cavernous sinus is a dural venous sinus in the skull that is adjacent to the temporal bone and the sphenoid bone. The carotid cavernous fistula is a type of arteriovenous fistula that causes arterial blood to enter the cavernous sinus. Clinical findings include head, ocular, and facial pain, pulsatile proptosis, chemosis, periorbital edema, conjunctival injection, double vision, glaucoma and, visual loss.
synonym: "Caroticocavernous fistula" EXACT []
is_a: HP:0005344 ! Abnormal carotid artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:31:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031158
name: Widened atrophic scar
def: "An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility." [PMID:22353005]
is_a: HP:0001075 ! Atrophic scars
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:39:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031159
name: Thinning of Descemet membrane
def: "A reduction in the thickness of Descemet's membrane." []
is_a: HP:0011490 ! Abnormal Descemet membrane morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:55:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031160
name: Myelokathexis
def: "Impaired egress of mature neutrophils from bone marrow causing neutropenia." [PMID:10607719, PMID:25662009]
comment: The word myelo-kathexis is derived from the Greek words for marrow (myelo) retention (kathexis). Unlike other forms of severe neutropenia, myelokathexis is characterized by granulocytic hyperplasia in the bone marrow, which contains neutrophils with cytoplasmic vacuoles, nuclear hypersegmentation, and pyknotic nuclear lobes connected by thin filaments.
is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T14:13:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031161
name: Reduced brain glutamate level by MRS
def: "An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS)." [PMID:24123328]
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T17:37:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031162
name: Impaired oropharyngeal swallow response
def: "Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars." [PMID:27785002]
comment: In the involuntary pharyngeal phase, the soft palate rises to close the nasopharynx and prevent nasal regurgitations. The hyoid bone rises, bringing the larynx up, while the epiglottis closes the entrance to the larynx. The base of the tongue contacts the pharyngeal wall, at the same time as the hyoid moves forward, coinciding with the relaxation of the cricopharyngeus muscle and the opening of the upper esophageal sphincter.
is_a: HP:0002015 ! Dysphagia
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T17:51:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031163
name: Low femoral bone density
def: "Reduced bone mineral density of the femur." [PMID:19580459]
comment: Osteopenia is defined as BMD between 1 standard deviation (SD) and 2.5 SD below the mean of the young reference group. Osteoporosis is defined as BMD 2.5 SD or more below the mean of the young reference group.
synonym: "Low femur bone density" EXACT []
is_a: HP:0002823 ! Abnormality of femur morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T17:59:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031164
name: Growth arrest lines
def: "Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone." [ORCID:0000-0003-0169-8159]
synonym: "Growth resumption lines" EXACT []
synonym: "Harris lines" EXACT []
is_a: HP:0031367 ! Metaphyseal striations
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T18:03:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031165
name: Multifocal seizures
def: "Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations)." [PMID:27091239]
synonym: "Multifocal onset seizures" EXACT []
is_a: HP:0001250 ! Seizures
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T18:13:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031166
name: Eyelid myokymia
def: "Involuntary, fine, continuous, undulating contractions of the eyelid." []
synonym: "Myokymia orbicularis" EXACT []
synonym: "Orbicularis myokymia" EXACT []
is_a: HP:0002411 ! Myokymia
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T19:03:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031167
name: Triggered by ingestion of potassium-rich food
def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium." [PMID:19472919]
comment: In contrast to paramyotonia congenita or hyperkalaemic periodic paralysis, potassium-aggravated myotonias (PAM) patients show no muscle weakness and hardly any cold sensitivity. However, they show an aggravation of their myotonia after ingestion of potassium, which distinguishes them from patients with chloride channelopathies.
synonym: "Triggered by ingestion of K-rich food" EXACT HP:0045077 []
is_a: HP:0025204 ! Triggered by
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T19:18:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031169
name: Postterm pregnancy
def: "A pregnancy that extends to 42 weeks of gestation or beyond." [PMID:24753906]
comment: This term can apply to a child born of a postterm pregancy.
is_a: HP:0001197 ! Abnormality of prenatal development or birth
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T19:54:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031170
name: Female fetal virilization
def: "Fetal masculinization of female external genitalia." []
comment: This anomaly can be observed with etiologies including 21-hydroxylase deficiency, pregnancy luteomas, and maternal intake of progesterones.
is_a: HP:0001197 ! Abnormality of prenatal development or birth
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T19:57:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031171
name: Femoral spur
def: "A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck." []
synonym: "Spurring of femur" EXACT []
is_a: HP:0002823 ! Abnormality of femur morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:02:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031172
name: Sectoral retinitis pigmentosa
def: "A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration." []
is_a: HP:0000510 ! Rod-cone dystrophy
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:05:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031173
name: Tibial spur
def: "A bony projection (spur, osteophyte) originating from the tibia." []
synonym: "Spurring of tibiae" EXACT []
is_a: HP:0002992 ! Abnormality of tibia morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:06:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031174
name: Double-layered patella
def: "An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood." [PMID:12525546, PMID:12966518]
comment: This feature can be observed in Multiple epiphyseal dysplasia type 4. It is distinct from bipartite patella, which is characterized by an unfused accessory ossification center at the superolateral aspect of the patella. Double layer patella appears to be caused by the presence of several patellar ossification centers.
is_a: HP:0003045 ! Abnormality of the patella
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:08:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031175
name: Absent cervical vertebra
def: "A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine." []
is_a: HP:0008465 ! Absent vertebra
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:20:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031176
name: Absent thoracic vertebra
def: "A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine." []
is_a: HP:0008465 ! Absent vertebra
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:20:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031177
name: Finger flexor weakness
def: "Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion." [PMID:15668452]
is_a: HP:0030237 ! Hand muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:25:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031178
name: Fixed head retroflexion
def: "Head is bent in the posterior direction in a permanent fashion." [PMID:25288843]
is_a: HP:0000234 ! Abnormality of the head
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:28:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031179
name: Nuchal rigidity
def: "Resistnace of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated." [PMID:12060874]
comment: Meningism is resistance to neck flexion due to painful spasm of extensor muscles resulting from meningeal irritation. The diagnosis of meningism is made in someone whose symptoms simulate meningitis, but in which no actual inflammation of these membranes is present. Nuchal rigidity can thus be observed in individuals with meningitis or with meningism.
synonym: "Meningism" RELATED []
is_a: HP:0005986 ! Limitation of neck motion
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:41:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031180
name: Erythema migrans
def: "An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter)." [PMID:18452799]
comment: Erythema migrans develops at the site of the deposition of Borrelia burgdorferi 7 to 14 days (range, 1-36 days) following the detachment of certain Ixodes ticks. The most important differential diagnosis is a localized and transient inflammatory reaction to the bite of an arthropod that is not associated with infection and resolves spontaneously within a day or two, and is usually less than 5 cm in size.
synonym: "Erythema chronicum migrans" EXACT []
is_a: HP:0010783 ! Erythema
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:57:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031181
name: Necrolytic migratory erythema
def: "Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution." [PMID:20054043]
comment: This feature can be a manifestation of glucagonoma and other cancers.
is_a: HP:0010783 ! Erythema
property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T21:02:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031185
name: Increased NT-proBNP level
def: "An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP)." []
is_a: HP:0031138 ! Abnormal B-type natriuretic peptide level
property_value: http://purl.org/dc/elements/1.1/date 2017-06-21T10:30:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031186
name: Abnormal circulating deoxycorticosterone level
def: "An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone." []
is_a: HP:0012112 ! Abnormal circulating corticosterone level
property_value: http://purl.org/dc/elements/1.1/date 2017-06-21T10:39:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031187
name: Abnormality of circulating pregnenolone level
def: "An abnormality of the concentration of pregnenolone in the blood." [PMID:24849255]
comment: Neurosteroids are steroids synthesized within the central nervous system as well as in other steroidogenic organs/tissues. In contrary with the classical actions through intracellular receptors, extensive evidence has established that neurosteroids can exert rapid, potent actions at the cell membrane via allosteric interactions with the GABAA receptor. Pregnenolone is a naturally occurring neurosteroid directly metabolized from cholesterol and the precursor of virtually all neurosteroids.
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-06-21T10:45:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031188
name: Genital edema
def: "A buildup of fluid that causes swelling in the soft tissues of the genital area." []
synonym: "Genital oedema" EXACT HP:0045076 []
is_a: HP:0000969 ! Edema
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T12:59:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031189
name: Wrist drop
def: "A condition in which the affected individual cannot extend the wrist, which hangs flaccidly." []
comment: Wrist drop can be caused by radial nerve palsy.
is_a: HP:0003484 ! Upper limb muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T13:25:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031190
name: Superficial dermal perivascular inflammatory infiltrate
def: "Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis." []
synonym: "Superficial perivascular inflammatory infiltrate" EXACT []
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:01:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031191
name: Deep dermal perivascular inflammatory infiltrate
def: "Numerous lymphocytes surrounding blood vessels in the deep part of the dermis." []
synonym: "Deep perivascular inflammatory infiltrate" EXACT []
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:07:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031192
name: Abnormal morphology of left ventricular trabeculae
def: "Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae)." []
is_a: HP:0030681 ! Abnormal morphology of myocardial trabeculae
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:10:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031193
name: Abnormal morphology of right ventricular trabeculae
def: "Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae)." []
is_a: HP:0030681 ! Abnormal morphology of myocardial trabeculae
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:10:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031194
name: Increased density of left ventricular trabeculae
def: "An increased denisty (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae)." []
is_a: HP:0031192 ! Abnormal morphology of left ventricular trabeculae
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:13:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031195
name: Apical hypertrabeculation of the left ventricle
def: "An increased number and denisty of the trabeculae in the apex (tip) of the left ventricle." []
is_a: HP:0031192 ! Abnormal morphology of left ventricular trabeculae
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:15:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031196
name: Thin myocardium compact layer
def: "Reduced thickness of the outer, dense layer of the myocardium." []
comment: The myocardium compact layer is only in the left ventricle.
is_a: HP:0031192 ! Abnormal morphology of left ventricular trabeculae
property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:16:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031197
name: Cellular urinary casts
def: "A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells)." []
is_a: HP:0012615 ! Cylindruria
property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T10:50:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031198
name: Renal tubular epithelial cell casts
def: "A type of cellular urinary cast composed of renal tubular epithelial cells." []
comment: Renal tubular epithelial cell casts can be observed in disorders including renal tubular necrosis, cytomegalovirus and other viral infections, kidney transplant rejection.
is_a: HP:0031197 ! Cellular urinary casts
property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T10:53:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031199
name: Acellular urinary casts
def: "A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells." []
is_a: HP:0012615 ! Cylindruria
property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T10:55:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031200
name: Hyaline casts
def: "A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends." [PMID:26079824]
is_a: HP:0031199 ! Acellular urinary casts
property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:00:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031201
name: Granular casts
def: "A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented." [PMID:26079824]
comment: It has been demonstrated that in patients with proteinuria, fine granules contain ultrafiltered proteins which have been reabsorbed by tubular cells, whilst in non-proteinuric patients coarse granules probably derive from the degeneration of cellular elements, such as leukocytes and renal epithelial cells present in the tubular lumen during cast formation.
is_a: HP:0031199 ! Acellular urinary casts
property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:06:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031202
name: Waxy casts
def: "A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts." [PMID:26079824]
is_a: HP:0031199 ! Acellular urinary casts
property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:08:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031203
name: Fatty casts
def: "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses." [PMID:26079824]
comment: The presence of fatty casts in urine may be associated with heavy proteinuria in patients with nephrotic syndrome.
is_a: HP:0031199 ! Acellular urinary casts
property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:10:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031204
name: Bacterial cell casts
def: "A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection." [PMID:26079824]
is_a: HP:0012615 ! Cylindruria
property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:12:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031205
name: Reduced lysosomal acid lipase activity
def: "Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins." [PMID:22227072]
comment: Samples from patients with Wolman Disease display extremely low or unmeasurable levels of lysosomal acid lipase (LAL) activity. Samples from patients with cholesteryl ester storage disease can display residual activities in the 5 to ten percent range.
synonym: "Reduced leukocyte acid lipase activity" EXACT []
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2017-06-29T11:32:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031206
name: Striatal T2 hyperintensity
def: "Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging." [PMID:27058447]
is_a: HP:0010994 ! Abnormal corpus striatum morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-29T12:15:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031207
name: Hepatic hemangioma
def: "A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size." [NCIT:C3869, PMID:21191518]
comment: Hepatic hemangiomas are considered the most common benign mesenchymal hepatic tumors. They can be divided into two major groups: capillary hemangiomas and cavernous hemangiomas.
synonym: "Hemangioma of the liver" EXACT []
synonym: "Liver hemangioma" EXACT []
is_a: HP:0002896 ! Neoplasm of the liver
is_a: HP:0410266 ! Visceral hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T10:39:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031208
name: Increased pituitary glycoprotein hormone alpha subunit level
def: "An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones." []
synonym: "Increased pituitary glycoprotein alpha subunit level" EXACT []
synonym: "Increased pituitary glycoprotein polypeptide alpha subunit level" EXACT []
is_a: HP:0032481 ! Abnormal pituitary glycoprotein hormone alpha subunit level
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T10:50:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031209
name: Decreased lipoprotein lipase activity
def: "Reduction in the activity of lipoprotein lipase in the blood." [PMID:18194851]
comment: Decreased plasma lipoprotein lipase activity is associated with delayed clearance of triglyceride-rich lipoproteins and low fasting HDL cholesterol.
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T10:57:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031210
name: Abnormal circulating hyaluronic acid concentration
def: "A deviation from the normal concentration of hyaluronic acid in the blood." [PMID:11861239]
comment: Serum hyaluronic acid (HA) is considered to be a marker of liver function. HA is a glycosaminoglycan that is rapidly cleared from the circulation by the liver via receptor mediated endocytosis into sinusoidal endothelial cells.
is_a: HP:0011012 ! Abnormal circulating polysaccharide concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:00:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031211
name: Elevated cholesterol ester level
alt_id: HP:0500010
def: "An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol." []
comment: The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis.
synonym: "Elevated cholesteryl ester level" EXACT []
synonym: "Increased cholesterol esters" EXACT []
synonym: "Increased cholesteryl esters" EXACT []
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:04:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031212
name: Abnormal circulating progesterone level
is_a: HP:0003117 ! Abnormal circulating hormone level
is_a: HP:0008373 ! Puberty and gonadal disorders
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:20:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031213
name: Elevated circulating 17-hydroxyprogesterone
def: "An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase." []
comment: An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-hydroxyprogesterone (17-OHP), while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. Moderately increased levels of 17-OHP may indicate an 11-beta-hydroxylase deficiency.
synonym: "Elevated circulating 17-OHP" EXACT HP:0045077 []
is_a: HP:0031212 ! Abnormal circulating progesterone level
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:21:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031214
name: Decreased circulating dehydroepiandrosterone level
comment: A reduced concentration of dehydroepiandrosterone in the blood. dehydroepiandrosterone is a weak androgen produced by the adrenal glands in both males and females.
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:29:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031215
name: Decreased circulating dehydroepiandrosterone-sulfate level
def: "A reduced concentration of dehydroepiandrosterone-sulfate in the blood." []
comment: DHEA is transformed into DHEA-S by sulfation at the C3beta position by sulfotransferase SULT2A1.
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:31:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031216
name: Increased circulating progesterone
def: "An elevated concentration of progesterone in the blood." []
is_a: HP:0031212 ! Abnormal circulating progesterone level
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:33:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031217
name: Hot flashes
def: "Sudden feelings of warmth that are generally most pronounced over the face, neck and chest." []
comment: Hot flashes are most commonly due to menopause but may be observed with other conditions.
is_a: HP:0025142 ! Constitutional symptom
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:38:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031218
name: Inappropriate antidiuretic hormone secretion
def: "A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume." []
comment: Common etiologies of inappropriate antidiuretic hormone (ADH) secretion include nervous system disease, cancer, pulmonary disease, and as a side effect of a medication. This term is meant to refer to the inappropriately high level of ADH and not to the full syndrome of inappropriate antidiuretic hormone secretion (SIADH), which is considered a disease entity rather than a phenotypic feature.
synonym: "Inappropriate ADH secretion" EXACT HP:0045077 []
synonym: "SIADH" RELATED HP:0045077 []
synonym: "Syndrome of inappropriate antidiuretic hormone secretion" RELATED []
is_a: HP:0031072 ! Abnormal endocrine physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:46:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031219
name: Reduced radioactive iodine uptake
def: "A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker." []
is_a: HP:0031221 ! Abnormal radioactive iodine uptake test result
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:55:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031220
name: Increased radioactive iodine uptake
def: "An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker." []
is_a: HP:0031221 ! Abnormal radioactive iodine uptake test result
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:59:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031221
name: Abnormal radioactive iodine uptake test result
def: "Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker." []
is_a: HP:0002926 ! Abnormality of thyroid physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:00:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031222
name: Increased circulating thyroxine-binding globulin level
def: "An elevated concentration of thyroxine-binding globulin (TBG) in the blood." []
comment: Thyroxine-binding globulin is one of the proteins that binds thyroid hormones in the circulation.
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:03:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031223
name: Focal pancreatic islet hyperplasia
def: "Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others." []
is_a: HP:0004510 ! Pancreatic islet-cell hyperplasia
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:06:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031224
name: Diffuse pancreatic islet hyperplasia
def: "Hyperplasia of the islets of Langerhans with a generalized distribution." []
is_a: HP:0004510 ! Pancreatic islet-cell hyperplasia
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:06:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031225
name: Intrapulmonary shunt
def: "Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs." []
comment: Intrapulmonary shunt may be a result of blood flow through collapsed alveoli, tumors, arteriovenous pathways,and other conditions.
synonym: "Intrapulmonary shunting" EXACT []
is_a: HP:0030875 ! Abnormality of pulmonary circulation
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:12:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031226
name: Perinephric fluid collection
def: "An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography." [PMID:12014928]
is_a: HP:0012210 ! Abnormal renal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:16:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031227
name: Nasopharyngeal teratoma
def: "A teratoma arising in the nasopharyngeal region." [PMID:23056797]
comment: Nasopharyngeal teratoma is histologically benign, but can cause considerable morbidity and mortality because of the location. Nasopharyngeal teratoma represents one of the most unusual causes of respiratory distress during the neonatal period.
is_a: HP:0009792 ! Teratoma
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:40:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031228
name: Abnormal incisura morphology
def: "An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus." [PMID:20082456]
is_a: HP:0011039 ! Abnormality of the helix
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:57:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031229
name: Increased incisura length
def: "The length of the incisura from the upper to lower border is greater than that observed in the average population." [PMID:20082456]
is_a: HP:0031228 ! Abnormal incisura morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:58:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031230
name: Decreased incisura length
def: "The length of the incisura from the upper to lower border is less than that observed in the average population." [PMID:20082456]
is_a: HP:0031228 ! Abnormal incisura morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T13:00:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031231
name: Narrow incisura width
def: "Width of the incisura from the anterior to posterior border less than that observed in the average population." [PMID:20082456]
is_a: HP:0031228 ! Abnormal incisura morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T13:00:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031232
name: Increased incisura width
def: "Breadth of the incisura from the anterior to posterior border greater than that observed in the average population." [PMID:20082456]
comment: This aspect may be difficult to assess in instances where the anterior and posterior walls of the incisura are not parallel.
is_a: HP:0031228 ! Abnormal incisura morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T13:02:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031233
name: Horizontal inferior border of scapula
def: "A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape)." [PMID:24706940]
synonym: "Squaring of the inferior scapulae" EXACT HP:0045078 []
synonym: "Squaring of the scapula" EXACT []
is_a: HP:0000782 ! Abnormality of the scapula
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T13:23:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031234
name: Neutrophilic infiltration of the skin
def: "A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin)." []
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T19:34:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031235
name: Predominantly epidermal neutrophilic infiltrate
def: "Collection of neutrophils in the epidermis." [PMID:17675728]
comment: This feature can be seen in a variety of conditions ranging from inflammatory dermatosis like psoriasis, neonatal disorders e.g. transient neonatal pustular melanosis to neoplasms viz. keratoacanthoma.
is_a: HP:0031234 ! Neutrophilic infiltration of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T19:36:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031236
name: Predominantly dermal neutrophilic infiltrate
def: "Collection of neutrophils in the dermis." [PMID:17675728]
is_a: HP:0031234 ! Neutrophilic infiltration of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T19:38:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031237
name: Internally nucleated skeletal muscle fibers
def: "An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells)." [PMID:22938878]
comment: A normal muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.
is_a: HP:0004303 ! Abnormality of muscle fibers
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T20:11:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031238
name: Necklace skeletal muscle fibers
def: "A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules." [PMID:19084976]
is_a: HP:0004303 ! Abnormality of muscle fibers
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T20:13:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031239
name: Extrafoveal choroidal neovascularization
def: "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea." []
is_a: HP:0011506 ! Choroidal neovascularization
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T20:22:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031240
name: Juxtafoveal choroidal neovascularization
def: "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea." []
is_a: HP:0011506 ! Choroidal neovascularization
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T21:26:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031241
name: Subfoveal choroidal neovascularization
def: "A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea." []
is_a: HP:0011506 ! Choroidal neovascularization
property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T21:27:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031242
name: Decreased circulating chylomicron concentration
def: "Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." []
synonym: "Decreased circulating chylomicron levels" EXACT []
synonym: "Hypochylomicronemia" EXACT []
is_a: HP:0010981 ! Hypolipoproteinemia
is_a: HP:0031887 ! Abnormal chylomicron concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-08-08T11:26:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031243
name: Decreased VLDL cholesterol concentration
def: "A reduction in the amount of very-low-density lipoprotein cholesterol in the blood." []
synonym: "Decreased circulating very-low-density lipoprotein levels" EXACT []
is_a: HP:0010981 ! Hypolipoproteinemia
is_a: HP:0031889 ! Abnormal VLDL cholesterol concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-08-08T11:27:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031244
name: Swollen lip
def: "Enlargement of the lip typically due to fluid buildup or inflammation." [ORCID:0000-0001-5208-3432]
synonym: "Swelling of the lip" EXACT []
is_a: HP:0000159 ! Abnormal lip morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:02:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031245
name: Productive cough
def: "A cough that produces phlegm or mucus." []
synonym: "Wet cough" EXACT layperson []
is_a: HP:0012735 ! Cough
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:19:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031246
name: Nonproductive cough
def: "A cough that does not produce phlegm or mucus." []
synonym: "Dry cough" EXACT layperson []
synonym: "Dry coughing" EXACT []
is_a: HP:0012735 ! Cough
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:19:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031247
name: Whooping cough
def: "A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air." [PMID:24219484]
comment: The term whooping cough is usually used to describe the disease caused by infection of the respiratory tract with Bordatella pertussis. This HPO term refers to the major symptom of that disease.
is_a: HP:0012735 ! Cough
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:22:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031248
name: Palmar pruritus
def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand." [ORCID:0000-0001-5208-3432]
synonym: "Itchy palm" EXACT layperson []
is_a: HP:0030899 ! Pruritis on hand
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:33:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031249
name: Parageusia
def: "A distortion of the sense of taste, often characterized by the sensation of a metallic taste." [PMID:21075995]
synonym: "Dysgeusia" EXACT []
synonym: "Metallic taste" EXACT layperson []
synonym: "Metallic taste in mouth" EXACT HP:0045077 []
is_a: HP:0000223 ! Abnormality of taste sensation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:35:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031250
name: Lip fissure
def: "A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation." []
is_a: HP:0000159 ! Abnormal lip morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:27:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031251
name: Abnormal subclavian artery morphology
def: "Any anomaly of a subclavian artery." []
comment: The left and right subclavian arteries supply blood to the posterior cerebral circulation, cerebellum, posterior neck, upper limbs and the superior and anterior chest wall. The right subclavian artery is a terminal branch of the brachiocephalic artery,and the left subclavian artery is the third branch of the aortic arch (following the left common carotid artery).
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:35:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031252
name: Dilated left subclavian artery
def: "Abnormally increased caliber of the left subclavian artery." []
is_a: HP:0031251 ! Abnormal subclavian artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:38:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031253
name: Anomalous origin of left subclavian artery
def: "Origin of the left subclavian artery from an anomalous anatomical location." []
is_a: HP:0031251 ! Abnormal subclavian artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:41:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031254
name: Thalamic arteriovenous malformation
def: "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus." [PMID:23125071]
is_a: HP:0010663 ! Abnormality of thalamus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:44:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031255
name: Hypothalamic arteriovenous malformation
def: "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus." [PMID:23125071]
is_a: HP:0012286 ! Abnormal hypothalamus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:49:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031256
name: Optic nerve arteriovenous malformation
def: "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve." [PMID:23125071]
is_a: HP:0000587 ! Abnormality of the optic nerve
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:51:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031257
name: Arteriovenous malformation of the maxilla
def: "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla." [PMID:17082338, PMID:23125071]
comment: This abnormality may be accompanied by gingival swelling adjacent to the affected maxilla as well as by loosening of nearby teeth. Radiographic examination mayreveal a lytic lesion of the maxilla.
is_a: HP:0000326 ! Abnormality of the maxilla
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:53:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031258
name: Delirium
def: "A state of sudden and severe confusion." []
is_a: HP:0001289 ! Confusion
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T16:00:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031259
name: Oophoritis
def: "An inflammation of the ovary or ovaries." []
synonym: "Inflammed ovary" EXACT layperson []
is_a: HP:0031065 ! Abnormal ovarian morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T16:02:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031260
name: Triangular tibia
def: "A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle diected laterally (See Figure 2 of PMID:18616733)." []
xref: PMID:18616733
is_a: HP:0002992 ! Abnormality of tibia morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T16:09:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031261
name: Bladder polyp
def: "An abnormal growth that projects from the mucous membrane of the urinary bladder." []
is_a: HP:0025487 ! Abnormality of bladder morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T16:13:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031263
name: Abnormal renal corpuscle morphology
def: "Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule." []
is_a: HP:0011035 ! Abnormal renal cortex morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T18:30:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031264
name: Abnormal morphology of Bowman capsule
def: "A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule." []
synonym: "Abnormal renal glomerular capsule morphology" EXACT []
is_a: HP:0031263 ! Abnormal renal corpuscle morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T18:34:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031265
name: Abnormal podocyte morphology
def: "Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary." [PMID:10662721]
is_a: HP:0031264 ! Abnormal morphology of Bowman capsule
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T18:36:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031266
name: Podocyte foot process effacement
def: "An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier." [PMID:23235479]
comment: Two stages of podocyte foot process effacement (FPE) may clearly be distinguished. Within the first stage, foot processes undergo tremendous changes in shape, losing their regular interdigitating pattern and retracting into short irregularly shaped cell projections. Slit diaphragms are lost or displaced from their usual position at the base and replaced by occludens-type junctions between the deformed, broadened foot processes. These changes are necessarily associated with considerable movements of these processes in relation to the glomerular basemenet membrane (GBM). The second phase, the completed stage of FPE, includes retraction of the foot processes into the primary podocyte cell processes, leading to broad flattened disc-like projections that cover the GBM, finally merging with the cell bodies. At this point, the cell bodies have lost their usual position floating above the GBM within the filtrate in Bowman space. Instead they broadly adhere directly to the GBM. The subpodocyte space beneath the podocyte cell body has largely disappeared in this stage.
is_a: HP:0031265 ! Abnormal podocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:38:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031267
name: Abnormal CD69 upregulation upon TCR activation
def: "Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus." [ORCID:0000-0001-5208-3432]
comment: This feature can be measured by flow cytometry.
is_a: HP:0410035 ! Abnormal T cell activation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:45:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031268
name: Decreased CD69 upregulation upon TCR activation
def: "Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR)." [ORCID:0000-0001-5208-3432]
is_a: HP:0031267 ! Abnormal CD69 upregulation upon TCR activation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:50:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031269
name: Abnormal CD25 upregulation upon TCR activation
def: "Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression." [ORCID:0000-0001-5208-3432, PMID:12121224]
is_a: HP:0410035 ! Abnormal T cell activation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:51:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031270
name: Decreased CD25 upregulation upon TCR activation
def: "Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR)." [ORCID:0000-0001-5208-3432]
synonym: "Poor CD25 upregulation upon TCR activation" EXACT []
synonym: "Reduced IL2RA upregulation upon TCR activation" EXACT []
is_a: HP:0031269 ! Abnormal CD25 upregulation upon TCR activation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:02:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031271
name: Absent ankle pulse
def: "The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery,cannot be detected on physical examination." []
is_a: HP:0025323 ! Abnormal arterial physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:39:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031272
name: Pulmonary arterial atherosclerosis
def: "Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery." []
comment: Pulmonary artery atherosclerosis is less common than systemic arterial atherosclerosis.
is_a: HP:0030966 ! Abnormal pulmonary artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:44:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031273
name: Shock
def: "The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury." []
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:50:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031274
name: Hypovolemic shock
def: "A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures." []
is_a: HP:0031273 ! Shock
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:57:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031275
name: Distributive shock
def: "A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage" [PMID:28238385]
comment: Distribute shock is caused by inadequate cardiac preload due to vasodilatation and vascular leakage. Etiologies include postoperative SIRS, sepsis, anaphylactic reaction.
is_a: HP:0031273 ! Shock
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:59:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031276
name: Obstructive shock
def: "A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism)." [PMID:28785436]
is_a: HP:0031273 ! Shock
property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T21:01:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031278
name: Abnormal thoracic duct morphology
def: "Any structural anomaly of the thoracic duct." []
is_a: HP:0100766 ! Abnormal lymphatic vessel morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T16:33:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031279
name: Abnormal response to gonadotropin-releasing hormone stimulation test
def: "An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH)." [PMID:22016677]
comment: This test is regarded as the gold standard to identify central precocious puberty.
synonym: "Abnormal response to GnRH stimulation test" EXACT HP:0045077 []
is_a: HP:0031073 ! Abnormal response to endocrine stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T16:47:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031280
name: Increased LH response to gonadotropin-releasing hormone stimulation test
def: "An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormine stimulation test." [PMID:22016677]
is_a: HP:0031279 ! Abnormal response to gonadotropin-releasing hormone stimulation test
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T16:52:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031281
name: Sialadenitis
def: "Inflammation of a salivary gland." []
is_a: HP:0010286 ! Abnormal salivary gland morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T17:06:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031282
name: Malalignment of the great toenail
def: "A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges." [PMID:27171597]
comment: See Figure 1 of PMID:27171597.
is_a: HP:0008388 ! Abnormal toenail morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T17:08:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031283
name: Tufted hairs
def: "The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice." []
is_a: HP:0011360 ! Acquired abnormal hair pattern
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T17:39:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031284
name: Flushing
def: "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." []
comment: Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen.
is_a: HP:0011354 ! Generalized abnormality of skin
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:14:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031285
name: Abnormal perifollicular morphology
def: "Any structural anomaly in the areas surrounding the hair follicles." []
is_a: HP:0000951 ! Abnormality of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:25:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031286
name: Perifollicular erythema
def: "Redness surrounding the hair follicles." [PMID:24574696]
is_a: HP:0031285 ! Abnormal perifollicular morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:27:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031287
name: Seborrheic keratosis
def: "A raised growths on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look." []
comment: Seborrheic keratosis is a benign lesion of the skin that occurs more frequently in sunlight exposed areas. The lesions can appear anywhere on the body, but most often occur on the face, chest, and back. There may be just one or clusters of dozens.
synonym: "Basal cell papilloma" EXACT []
synonym: "Seborrheic verruca" EXACT []
synonym: "Senile wart" EXACT layperson []
is_a: HP:0008069 ! Neoplasm of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:33:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031288
name: Cobblestone-like hyperkeratosis
def: "The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones." []
xref: PMID:18809899
is_a: HP:0000962 ! Hyperkeratosis
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:43:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031289
name: White papule
def: "A papule with white color." []
is_a: HP:0200034 ! Papule
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:48:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031290
name: Tuberous xanthoma
def: "A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes." []
is_a: HP:0000991 ! Xanthomatosis
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:03:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031291
name: Ichthyosis follicularis
def: "Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed." [PMID:14708109, PMID:21600032]
is_a: HP:0008064 ! Ichthyosis
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:18:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031292
name: Cutaneous abscess
def: "A circumscribed area of pus or necrotic debris in the skin." []
synonym: "Skin abscess" EXACT layperson []
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:21:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031293
name: Digital pitting scar
def: "Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe." [PMID:8358096]
is_a: HP:0100276 ! Skin pit
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:25:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031294
name: Hypoplastic right atrium
def: "Underdeveloped, small right heart atrium." []
is_a: HP:0025580 ! Abnormal right atrium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:36:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031295
name: Left atrial enlargement
def: "Increase in size of the left atrium." []
synonym: "Enlarged heart left atrium" EXACT []
xref: Fyler:3011
xref: Fyler:3020
is_a: HP:0025579 ! Abnormal left atrium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:38:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031296
name: Atrial septal hypertrophy
def: "An abnormal increase in the thickness of the atrial septum." [PMID:12664819]
is_a: HP:0005120 ! Abnormal cardiac atrium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:41:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031297
name: Unroofed coronary sinus
def: "Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion." [PMID:19398672]
is_a: HP:0001631 ! Atrial septal defect
is_a: HP:0011642 ! Abnormal coronary sinus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:44:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031298
name: Coronary sinus enlargement
def: "Abnormal increase in size of the coronary sinus." []
comment: The coronary sinus is rarely seen on echocardiography in healthy persons. The differential diagnosis of dilated coronary sinus includes right ventricular dysfunction, right atrial hypertension, and anomalous venous drainage into the coronary sinus.
synonym: "Coronary sinus dilatation" EXACT []
synonym: "Enlarged coronary sinus" EXACT []
is_a: HP:0011642 ! Abnormal coronary sinus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:47:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031299
name: Elevated left atrial pressure
def: "An abnormal increase in magnitude of the pressure in the left atrium." []
is_a: HP:0025443 ! Abnormal cardiac atrial physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:54:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031300
name: Abnormal circulating properdin level
def: "A deviation from the normal concentration of properdin in the blood." [PMID:16301317]
comment: There are three pathways of complement activation, the classical pathway, lectin pathway, and alternative pathway. Each generates a C3 convertase, a serine protease that cleaves the central complement protein, C3. Nearly all the biological consequences of complement are dependent on the resulting cleavage products. Properdin is a positive regulator of complement activation that stabilizes the alternative pathway convertases (C3bBb). Properdin is composed of multiple identical protein subunits, with each subunit carrying a separate ligand-binding site.
is_a: HP:0025465 ! Abnormal circulating beta globulin level
property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T22:01:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031301
name: Peripheral arterial calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall." [PMID:24402839, PMID:26811161]
comment: Peripheral arterial calcification can be observed on radiographs and may be classified as either medial (linear calcifications in a train-track pattern) or atherosclerotic (distinct, nodular calcifications). A number of other techniques may also be used to detect peripheral arterial calcification including computed tomographic (CT) and magnetic resonance (MR) imaging, duplex ultrasonography, measurement of pulse wave velocity, echocardiography, planar radiographs, and indirectly, the ankle-brachial index.
synonym: "Peripheral artery calcification" EXACT []
is_a: HP:0003207 ! Arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T20:56:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031302
name: Lower extremity peripheral arterial calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg." []
synonym: "Lower extremity peripheral artery calcification" EXACT []
is_a: HP:0031301 ! Peripheral arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:03:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031303
name: Femoral arterial calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery." []
is_a: HP:0031302 ! Lower extremity peripheral arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:04:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031304
name: Iliac arterial calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery." []
is_a: HP:0031302 ! Lower extremity peripheral arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:05:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031305
name: Tibial arterial calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery." []
is_a: HP:0031302 ! Lower extremity peripheral arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:05:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031306
name: Intracranial arterial calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial)." []
is_a: HP:0003207 ! Arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:30:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031307
name: Internal carotid artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery." []
is_a: HP:0031306 ! Intracranial arterial calcification
is_a: HP:0031314 ! Carotid artery calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:32:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031308
name: Vertebral artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery." []
is_a: HP:0031306 ! Intracranial arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:33:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031309
name: Cerebral artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery." []
is_a: HP:0031306 ! Intracranial arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:34:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031310
name: Basilar artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery." []
is_a: HP:0031306 ! Intracranial arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:35:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031311
name: Middle cerebral artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery." []
is_a: HP:0031309 ! Cerebral artery calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:36:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031313
name: Abdominal aortic calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta." []
is_a: HP:0004963 ! Calcification of the aorta
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:44:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031314
name: Carotid artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery." []
is_a: HP:0003207 ! Arterial calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:52:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031315
name: External carotid artery calcification
def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery." []
is_a: HP:0031314 ! Carotid artery calcification
property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:53:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031316
name: Abnormal ventricular myocardium morphology
def: "A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle." []
is_a: HP:0001637 ! Abnormal myocardium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:43:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031317
name: Fatty replacement of ventricular myocardial tissue
def: "Presence of an increased amount of fat tissue withina cardiac ventricle with corresponding reduction of muscle tissue." []
synonym: "Fatty infiltration of cardiac ventricle" EXACT []
synonym: "Intramyocardial fat infiltration" EXACT []
is_a: HP:0001637 ! Abnormal myocardium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:45:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031318
name: Myofiber disarray
def: "A nonparallel arrangement of cardiac myocytes." [PMID:7890275]
comment: The presence of a sufficient quantity of myocardial fibers showing this change is considered to be a specific histological feature of hypertrophic cardiomyopathy.
synonym: "Myocardial fiber disarray" EXACT []
is_a: HP:0001637 ! Abnormal myocardium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:50:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031319
name: Cardiomyocyte hypertrophy
def: "An abnormal increase in the volume of cardiac myocytes." [PMID:7626345]
comment: Adult cardiac myocytes are highly specialized, terminally differentiated cells which have lost the ability to divide. The increase in heart muscle mass seen in cardiac hypertrophy occurs predominantly through an increase in myocyte size rather than number. Hypertrophy is the principal response of the heart to overload from any cause, including hypertension, myocardial infarction, valvar heart disease, and dilated cardiomyopathy.
synonym: "Myocyte cellular hypertrophy" EXACT []
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:58:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031320
name: Cardiomyocyte mitochondrial proliferation
def: "An abnormal increase in the number of mitochondria per cardiac myocyte." []
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:02:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031321
name: Myocardial immune cell infiltration
def: "An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium)." []
is_a: HP:0001637 ! Abnormal myocardium morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:06:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031322
name: Myocardial lymphocytic infiltration
def: "An increase in the number of lymphocytes in myocardial tissue." []
is_a: HP:0031321 ! Myocardial immune cell infiltration
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:08:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031323
name: Myocardial eosinophilic infiltration
def: "An increase in the number of eosinophils in myocardial tissue." []
is_a: HP:0031321 ! Myocardial immune cell infiltration
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:08:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031324
name: Myocardial multinucleated giant cells
def: "The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin." [PMID:26140040]
is_a: HP:0031321 ! Myocardial immune cell infiltration
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:15:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031325
name: Myocardial granulomatous infiltrates
def: "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium." []
is_a: HP:0031321 ! Myocardial immune cell infiltration
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:21:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031326
name: Monoclonal light chain cardiac amyloidosis
def: "A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry." [PMID:28456755]
is_a: HP:0030843 ! Cardiac amyloidosis
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:23:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031327
name: Transthyretin cardiac amyloidosis
def: "A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining." [PMID:22949539]
synonym: "TTR cardiac amyloidosis" EXACT HP:0045077 []
is_a: HP:0030843 ! Cardiac amyloidosis
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:29:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031328
name: Perivascular cardiac fibrosis
def: "A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces." [PMID:10435025]
is_a: HP:0001685 ! Myocardial fibrosis
is_a: HP:0032200 ! Perivascular fibrosis
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:38:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031329
name: Interstitial cardiac fibrosis
def: "A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces." [PMID:10435025]
is_a: HP:0001685 ! Myocardial fibrosis
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:39:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031330
name: Perivascular myocardial immune cell infiltration
def: "An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels." []
is_a: HP:0031321 ! Myocardial immune cell infiltration
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:41:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031331
name: Abnormal cardiomyocyte morphology
def: "Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue." []
synonym: "Abnormal cardiac muscle cell morphology" EXACT []
is_a: HP:0001627 ! Abnormal heart morphology
is_a: HP:0025461 ! Abnormal cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:50:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031332
name: Cardiomyocyte degeneration
def: "Deterioration of cardiomyocyte charyacterized by abnormal features sich as loss of myotilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris." []
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:54:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031333
name: Myocardial sarcomeric disarray
def: "A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and action that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes." [PMID:22311886, PMID:7788887]
synonym: "Myocardial sarcomere disarray" EXACT []
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:11:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031334
name: Cardiomyocyte inclusion bodies
def: "Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes." []
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:18:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031335
name: Abnormal cardiomyocyte mitochondrial morphology
def: "An anomaly of the structure of mitochondria within cardiomyocytes." []
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:21:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031336
name: Intranuclear cardiomyocyte mitochondria
def: "Abnormal localization of mitochondria within the nuclei of cardiomyocytes." [PMID:22948484]
comment: Electron microscopy of mammalian cardiac and skeletal muscle tissues reveal mitochondria as individual organelles situated either in clusters beneath the sarcolemma (subsarcolemmal mitochondria) or in longitudinal rows within the contractile apparatus (interfibrillar mitochondria).
is_a: HP:0031335 ! Abnormal cardiomyocyte mitochondrial morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:30:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031337
name: Abnormal cardiomyocyte connexin43 staining
def: "Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases." [PMID:20167932]
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:35:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031338
name: Abnormal cardiomyocyte plakoglobin staining
def: "Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes." [PMID:25196244]
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:39:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031339
name: Abnormal cadiomyocyte dystrophin staining
def: "Anomalous staining of dystrophin in cardiomyocytes." [PMID:23330010]
comment: Dystrophin, a 427-kD cytoskeletal protein, is a member of the beta-spectrin/alpha-actinin protein family. Dystrophin and the dystrophin-associated proteins (dystroglycans, sarcoglycans, sarcospan, dystrobrevin, and syntrophins) form a complex that is involved in contractile force transmission and stabilization of the plasma membrane.
is_a: HP:0031331 ! Abnormal cardiomyocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:42:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031340
name: Abnormal lysosomal morphology
def: "A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids." []
is_a: HP:0025461 ! Abnormal cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:46:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031341
name: Gastric arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach." []
is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:53:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031342
name: Duodenal arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum." []
is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:55:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031343
name: Jejunal arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum." []
is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:55:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031344
name: Pelvic arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis." [PMID:11292918]
is_a: HP:0100026 ! Arteriovenous malformation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:56:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031345
name: Colonic arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon." []
is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:57:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031346
name: Rectal arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum." []
is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:59:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031347
name: Uterine arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus." []
is_a: HP:0100026 ! Arteriovenous malformation
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:59:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031348
name: Dextrotransposition of the great arteries
def: "A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA." [PMID:25082585]
synonym: "D-loop transposition of the great arteries" EXACT []
synonym: "D-TGA" EXACT HP:0045077 []
xref: Fyler:0700
xref: Fyler:700
is_a: HP:0001669 ! Transposition of the great arteries
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:17:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031349
name: Levotransposition of the great arteries
def: "A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery." []
synonym: "L-TGA" EXACT HP:0045077 []
is_a: HP:0001669 ! Transposition of the great arteries
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:19:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031350
name: Cardiac sarcoma
def: "A malignant soft tissue neoplasm that arises from the heart." [NCIT:C7723]
is_a: HP:0100544 ! Neoplasm of the heart
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:27:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031351
name: Calcified amorphous tumor of the heart
def: "A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue." [PMID:24932362]
synonym: "Calcified amorphous tumour of the heart" EXACT HP:0045076 []
is_a: HP:0100544 ! Neoplasm of the heart
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:28:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031352
name: Chest tightness
def: "An unpleasant sensation of tightness or pressure in the chest." [ORCID:0000-0001-5208-3432, PMID:16990972, PMID:18405952]
synonym: "Tightness in chest" EXACT []
is_a: HP:0025142 ! Constitutional symptom
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:49:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031353
name: Otitis media with effusion
def: "Otitis media characterized by thick or sticky fluid behind the tympanic membrane." [ORCID:0000-0001-5208-3432]
synonym: "Fluid behind eardrum" EXACT layperson []
is_a: HP:0000388 ! Otitis media
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:53:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031354
name: Sleep onset Insomnia
def: "Difficulty initiating sleep, that is, increased sleep onset latency." []
is_a: HP:0100785 ! Insomnia
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:00:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031355
name: Maintenance insomnia
def: "Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep." []
is_a: HP:0100785 ! Insomnia
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:04:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031356
name: Terminal insomnia
def: "A type of insomnia characterized by waking up (too) early in the morning." []
synonym: "Late insomnia" EXACT []
is_a: HP:0100785 ! Insomnia
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:04:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031357
name: Glomeruloid hemangioma
def: "A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli." [PMID:23716835]
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:44:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031358
name: Vegetative state
def: "Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities)." []
is_a: HP:0004372 ! Reduced consciousness/confusion
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:49:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031359
name: Cutaneous sclerotic plaque
def: "A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening)." []
is_a: HP:0200035 ! Skin plaque
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:54:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031360
name: Yellow skin plaque
def: "A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color." []
is_a: HP:0200035 ! Skin plaque
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:56:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031361
name: Zebra bodies
def: "Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmicv inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images." [PMID:28499424]
is_a: HP:0031340 ! Abnormal lysosomal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T16:00:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031362
name: Sex-limited autosomal recessive inheritance
def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females)." []
is_a: HP:0000007 ! Autosomal recessive inheritance
property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T11:43:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031363
name: Palpable purpura
def: "A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation)." []
is_a: HP:0000979 ! Purpura
property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T12:31:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031364
name: Ecchymosis
def: "A purpuric lesion that is larger than 1 cm in diameter." []
synonym: "Ecchymoses" EXACT HP:0045078 []
is_a: HP:0031365 ! Macular purpura
property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T12:32:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031365
name: Macular purpura
def: "Purpura that is flat (non-palpable, not raised)." []
synonym: "Flat purpura" EXACT []
is_a: HP:0000979 ! Purpura
property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T12:35:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031366
name: Palate neoplasm
def: "A neoplasm that affects the hard palate, soft palate, or uvula." [NCIT:C4402]
is_a: HP:0100649 ! Neoplasm of the oral cavity
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T00:52:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031367
name: Metaphyseal striations
def: "Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis)." [PMID:18203204]
synonym: "Striated metaphysis" EXACT []
is_a: HP:0000944 ! Abnormality of the metaphysis
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:05:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031368
name: Intestinal perforation
def: "A hole (perforation) in the wall of the intestine." []
is_a: HP:0002242 ! Abnormal intestine morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:23:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031369
name: Colon perforation
def: "A hole (perforation) in the wall of the colon." [PMID:22334860]
synonym: "Perforation of the colon" EXACT []
is_a: HP:0031368 ! Intestinal perforation
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:29:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031370
name: Small intestinal perforation
def: "A hole (perforation) in the wall of the small intestine." []
is_a: HP:0031368 ! Intestinal perforation
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:30:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031371
name: Rectal perforation
def: "A hole (perforation) in the wall of the rectum." [PMID:28290145]
is_a: HP:0031368 ! Intestinal perforation
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:31:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031372
name: Cold paresis
def: "Increased muscle weakness upon exposure to cold temperatures." [PMID:20803025]
is_a: HP:0001324 ! Muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:39:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031373
name: Stiff tongue
def: "Increased rigidity and reduced mobility of the tongue." []
synonym: "Tongue stiffness" EXACT []
is_a: HP:0030809 ! Abnormal tongue morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:42:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031374
name: Ankle weakness
def: "Reduced strength of the muscles that lift or otherwise move the foot at the ankle." []
is_a: HP:0001324 ! Muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:47:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031375
name: Refractory
def: "Applies to a sign or symptom that is difficult to treat or cure." []
is_a: HP:0012823 ! Clinical modifier
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:54:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031377
name: Abnormal cell proliferation
def: "Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population." []
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:54:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031378
name: Abnormal lymphocyte proliferation
def: "Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population." []
is_a: HP:0031377 ! Abnormal cell proliferation
is_a: HP:0031409 ! Abnormal lymphocyte physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:55:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031379
name: Abnormal T cell proliferation
def: "Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population." []
is_a: HP:0011840 ! Abnormality of T cell physiology
is_a: HP:0031378 ! Abnormal lymphocyte proliferation
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:56:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031380
name: Abnormal B cell proliferation
def: "Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population." []
is_a: HP:0031378 ! Abnormal lymphocyte proliferation
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:56:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031381
name: Decreased lymphocyte proliferation in response to mitogen
def: "A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA)." []
synonym: "Reduced lymphocyte proliferation to mitogen" EXACT []
is_a: HP:0031378 ! Abnormal lymphocyte proliferation
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:57:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031382
name: Decreased lymphocyte proliferation in response to anti-CD3
def: "A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3." []
is_a: HP:0031381 ! Decreased lymphocyte proliferation in response to mitogen
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:57:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031383
name: Abnormal lymphocyte surface marker expression
def: "Abnormal amount of a protein that is normally present on the cell surface of lymphocytes." []
is_a: HP:0010978 ! Abnormality of immune system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:14:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031384
name: Reduced T cell CD40 expression
def: "A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes." []
comment: This feature can be observed with X-linked Hyper IgM (XHIGM) syndrome. As a consequence of the deficiency in CD40 ligand, T-lymphocytes in patients with XHIGM are unable to instruct B-lymphocytes to switch their production of immunoglobulins from IgM to IgG, IgA and IgE.
is_a: HP:0031383 ! Abnormal lymphocyte surface marker expression
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:16:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031385
name: Megakaryocyte nucleus hypolobulation
def: "The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus." [PMID:27107657]
comment: Megakaryocytes with a hypolobulated nucleus can be seen in normal bone marrow but numbers are increased in some patients with myelodysplastic syndrome.
is_a: HP:0012143 ! Abnormal megakaryocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:33:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031386
name: Increased micromegakaryocyte count
def: "The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter." [PMID:27107657]
comment: Micromegakaryocytes are characteristic of myelodysplastic syndromebut may be seen in other conditions.
is_a: HP:0012143 ! Abnormal megakaryocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:35:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031387
name: Increased multinucleated megakaryocyte count
def: "The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow." [PMID:27107657]
comment: A multinucleated megakaryocyte is a cell of normal size with two or more nuclei. Binucleated micromegakaryocytes should be categorized as such rather than as multinucleated megakaryocytes since the restricted size is of more diagnostic significance than the presence of two nuclei. Multinucleated megakaryocytes are seen in small numbers in normal bone marrow aspirates but in larger numbers in some patients with MDS.
is_a: HP:0012143 ! Abnormal megakaryocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:37:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031388
name: Megakaryocyte nucleus hyperlobulation
def: "The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus." [PMID:27107657]
comment: A large megakaryocyte with a hyperlobulated nucleus is a cell that is larger than average size and has more nuclear lobulation than average. Some such megakaryocytes are seen in normal bone marrows but when they are present as an increased proportion they should be commented on. Increased numbers are seen sometimes in myelodysplastic syndrome but they are more frequent in myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and in MPN, particularly essential thrombocythemia.
is_a: HP:0012143 ! Abnormal megakaryocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:40:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031389
name: Abnormal MHC II surface expression
def: "A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface." []
is_a: HP:0010978 ! Abnormality of immune system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:00:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031390
name: Reduced MHC II surface expression
def: "A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface." []
is_a: HP:0031389 ! Abnormal MHC II surface expression
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:00:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031391
name: Elevated MHC II surface expression
def: "An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface." []
is_a: HP:0031389 ! Abnormal MHC II surface expression
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:02:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031392
name: Abnormal proportion of CD4 T cells
def: "Any abnormality in the proportion of CD4 T cells relative to the total number of T cells." []
synonym: "Abnormal proportion of CD4+ T cells" EXACT []
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:05:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031393
name: Abnormal proportion of CD8 T cells
def: "Any abnormality in the proportion of CD8 T cells relative to the total number of T cells." []
synonym: "Abnormal proportion of CD8+ T cells" EXACT []
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:06:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031394
name: Abnormal CD4:CD8 ratio
def: "Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes." []
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:06:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031396
name: Abnormal proportion of naive T cells
def: "Any abnormality in the proportion of naive T cells relative to the total number of T cells." [PMID:12133935]
comment: Following the development of T cells in the thymus, they enter the blood stream and recirculate between the blood and peripheral lymphatic tissues. Mature recirculating T cells that have not yet encountered their specific antigen are known as naive T cells. Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. Human mature CD4+ T cells are functionally heterogeneous and can be divided into naive and memory/effector populations based on the expression of cell surface markers. Although the most significant differences between these two populations are functional, the leukocyte common Ag (CD45) was promoted as a potential marker of memory T cells. CD45 Ag may be found in various isoforms depending on alternative splicing of three extracellularly expressed exons. The expression of the highest molecular weight isoform, referred to as CD45RA, defines the population of CD4+ unprimed lymphocytes. Activation of naive lymphocytes through TCR engagement is followed by loss of CD45RA Ag and transition to the expression of the smallest molecular weight isoform CD45RO. These primed cells express high levels of activation Ags, acquire effector functions, and need less costimuli requirements for further activation.
synonym: "Abnormal naive T cell proportion" EXACT []
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T12:46:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031397
name: Reduced proportion of naive T cells
def: "An abnormally decreased proportion of naive T cells relative to the total number of T cells." [HPO:probinson, PMID:12133935]
is_a: HP:0031396 ! Abnormal proportion of naive T cells
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T12:53:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031398
name: Elevated proportion of naive T cells
def: "An abnormally increased proportion of naive T cells relative to the total number of T cells." [PMID:12133935]
is_a: HP:0031396 ! Abnormal proportion of naive T cells
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T12:53:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031399
name: Abnormal proportion of double-negative alpha-beta regulatory T cell
def: "An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells." [PMID:16285891, PMID:22294241]
comment: T lymphocytes bearing the alpha-beta T cell receptor (TCR) but lacking CD4, CD8, and markers of natural killer (NK) cell differentiation, i.e.,  TCR(+)CD3(+)CD4(-)CD8(-), are known as double-negative (DN) T cells and are defined by their capability of inhibiting immune responses via directly killing effector T cells in an antigen specific fashion. Furthermore, DN Treg cells have been shown to develop regulatory activity after encountering specific antigens, partially mediated by the acquisition of MHC-peptide complexes from antigen presenting cells (APCs).
synonym: "Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution" EXACT []
synonym: "Abnormal DN Treg distribution" EXACT []
synonym: "Abnormal Double negative Treg distribution" EXACT []
synonym: "Abnormal double-negative alpha-beta regulatory T cell distribution" EXACT []
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T12:57:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031401
name: Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
def: "An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells." []
is_a: HP:0031399 ! Abnormal proportion of double-negative alpha-beta regulatory T cell
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T13:02:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031402
name: Reduced antigen-specific T cell proliferation
def: "Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus." []
synonym: "Antigen-specific T cell proliferation defect" EXACT []
synonym: "Impaired activated T cell proliferation" EXACT []
synonym: "Impaired Ag-specific T cell proliferation" EXACT HP:0045077 []
synonym: "Impaired cellular adaptive immune response" BROAD []
is_a: HP:0031379 ! Abnormal T cell proliferation
is_a: HP:0031404 ! Impaired antigen-specific response
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:31:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031403
name: Impaired pathogen-specific CD8 cytoxicity
def: "Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors." [PMID:11911826]
synonym: "Pathogen-specific CD8 cytoxicity defect" EXACT []
is_a: HP:0031404 ! Impaired antigen-specific response
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:35:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031404
name: Impaired antigen-specific response
def: "An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory)." []
synonym: "Impaired adaptive immune response" EXACT []
is_a: HP:0010978 ! Abnormality of immune system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:36:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031405
name: Poroma
def: "A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]." [NCIT:C27273]
is_a: HP:0012842 ! Skin appendage neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:57:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031406
name: Abnormal cytokine signaling
def: "Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription." []
is_a: HP:0011111 ! Abnormality of immune serum protein physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:59:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031407
name: Impaired cytokine signaling
def: "A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription." []
synonym: "Cytokine signaling defect" EXACT []
is_a: HP:0031406 ! Abnormal cytokine signaling
property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T16:00:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031408
name: Increased proportion of CD25+ mast cells
def: "An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain)." [PMID:15371947, PMID:18684881]
comment: Mast cells do not normally express CD25, but neoplastic mast cells may be CD25-positive.
is_a: HP:0100494 ! Abnormal mast cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T11:55:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031409
name: Abnormal lymphocyte physiology
def: "Any anomaly of lymphocyte function." []
is_a: HP:0010978 ! Abnormality of immune system physiology
is_a: HP:0011017 ! Abnormal cellular physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T12:08:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031410
name: Abnormal distribution of CD56 bright/dim natural killer cells
def: "An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells." [PMID:19278419]
comment: The cytotoxic activity of CD56 dim NK cells is significantly higher than that of CD56 bright cells (the CD56bright CD16 population being the less cytotoxic) and they contain much more perforin, granzymes and cytolytic granules.
synonym: "Abnormal distribution of CD56 bright/dim NK cells" EXACT HP:0045077 []
is_a: HP:0500033 ! Abnormal natural killer subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T12:15:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031411
name: Abnormal chromosome morphology
def: "Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order." []
xref: Fyler:4013
is_a: HP:0025461 ! Abnormal cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T15:22:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031412
name: Abnormal telomere morphology
is_a: HP:0031411 ! Abnormal chromosome morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T15:24:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031413
name: Short telomere length
def: "An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur." []
comment: Telomeres are made of repeating TTAGGG/AATCCC units. The overall length of the telomere is over 10 kb at birth and progressively declines with age.
is_a: HP:0031412 ! Abnormal telomere morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T17:14:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031414
name: High serum calcifediol
def: "An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3." []
synonym: "High serum 25-hydroxycholecalciferol" EXACT []
synonym: "High serum calcidiol" EXACT []
xref: RGD:sjwang
is_a: HP:0100511 ! Abnormality of vitamin D metabolism
property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T01:49:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031415
name: High serum calcitriol
def: "An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [PMID:24246681, RGD:sjwang]
synonym: "High serum 1,25-dihydroxycholecalciferol" EXACT []
synonym: "High serum 1,25-dihydroxyvitamin D3" EXACT []
is_a: HP:0100511 ! Abnormality of vitamin D metabolism
property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T01:53:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031416
name: Abnormal nasal mucus secretion
def: "Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose." []
is_a: HP:0002795 ! Functional respiratory abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:03:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031417
name: Rhinorrhea
def: "Increased discharge of mucus from the nose." []
synonym: "Nasal Discharge" EXACT HP:0045077 []
synonym: "Runny Nose" EXACT layperson []
is_a: HP:0031416 ! Abnormal nasal mucus secretion
property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:06:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031418
name: Increased body mass index
def: "Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages." [PMID:17973940]
synonym: "Increased BMI" EXACT HP:0045077 []
is_a: HP:0045081 ! Abnormality of body mass index
property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:12:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031419
name: Reduced sex -hormone binding protein level
def: "A decreased concentration of sex-hormone binding protein in the circulation." [RGD:sjwang]
comment: Sex hormone binding globulin (NCBI Gene 6462) is also known as  sex hormone binding protein and androgen binding protein.
synonym: "Reduced androgen-binding protein level" EXACT []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:20:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031420
name: Small yellow foveal lesion with surrounding grey zone
def: "A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity." [ORCiD:0000-0002-2244-7917, PMID:25323644, PMID:28611647]
synonym: "Laser pointer-induced maculopathy" RELATED []
synonym: "Laser pointer-induced retinopathy" RELATED []
synonym: "Light induced retinopathy" RELATED []
synonym: "Photic retinopathy" RELATED []
synonym: "Solar retinitis" RELATED []
synonym: "Solar retinopathy" RELATED []
is_a: HP:0030500 ! Yellow/white lesions of the macula
property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:33:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031421
name: Small superior frontal cortex
def: "Reduced size of the superior frontal portion of the cerebral cortex." [RGD:gth]
is_a: HP:0002472 ! Small cerebral cortex
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:11:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031422
name: Abnormal morphology of the cerebellar cortex
def: "Any structural anomaly of the cortex of the cerebellum." []
is_a: HP:0001317 ! Abnormal cerebellum morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:13:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031423
name: Small cerebellar cortex
def: "Reduced size of the cerebellar cortex." [RGD:gth]
is_a: HP:0031422 ! Abnormal morphology of the cerebellar cortex
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:14:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031424
name: Abnormal circulating beta-C-terminal telopeptide level
def: "A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover." [PMID:15309383, RGD:sjwang]
synonym: "Abnormal circulating beta-CrossLaps level" EXACT []
synonym: "Abnormal circulating beta-CTx level" EXACT HP:0045077 []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:18:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031425
name: Increased circulating beta-C-terminal telopeptide level
def: "A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation." [RGD:sjwang]
synonym: "Increased circulating beta-CrossLaps level" EXACT []
synonym: "Increased circulating beta-CTx level" EXACT []
is_a: HP:0031424 ! Abnormal circulating beta-C-terminal telopeptide level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:22:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031426
name: Decreased circulating beta-C-terminal telopeptide level
def: "A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation." [RGD:sjwang]
synonym: "Decreased circulating beta-CrossLaps level" EXACT []
synonym: "Decreased circulating beta-CTx level" EXACT []
is_a: HP:0031424 ! Abnormal circulating beta-C-terminal telopeptide level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:22:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031427
name: Abnormal circulating osteocalcin level
def: "A deviation from the normal concentration of osteocalcin in the blood circulation." [PMID:23737779, PMID:25577163, RGD:sjwang]
comment: Osteocalcin, also known as bone gamma-carboxyglutamic acid (Gla) protein (BGP), is the most abundant noncollagenous protein of bone matrix. It is released by osteoblasts during bone formation and binds with the mineralized bone matrix. Osteocalcin has an endocrine function, regulating glucose and lipid homeostasis.
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:25:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031428
name: Increased circulating osteocalcin level
def: "An elevated level of osteocalcin in the blood." [RGD:sjwang]
is_a: HP:0031427 ! Abnormal circulating osteocalcin level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:32:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031429
name: Decreased circulating osteocalcin level
def: "A reduced level of osteocalcin in the blood." [RGD:sjwang]
is_a: HP:0031427 ! Abnormal circulating osteocalcin level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:33:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031430
name: Oligoclonal T cell expansion
def: "The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones." []
is_a: HP:0011840 ! Abnormality of T cell physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:00:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031431
name: Persistent repetition of words
def: "Repetitive use of words, phrases, intonation, or sounds of speech, often of the speechof others." []
is_a: HP:0030223 ! Perseveration
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:14:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031432
name: Persistent repetition of actions
def: "Repeated and inappropriate mechanical repetition of actions." []
is_a: HP:0030223 ! Perseveration
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:17:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031433
name: Alexithymia
def: "A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others." []
synonym: "Unaware of others' emotions" EXACT layperson []
is_a: HP:0000729 ! Autistic behavior
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:21:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031434
name: Abnormal speech prosody
def: "An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm." []
is_a: HP:0001608 ! Abnormality of the voice
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:34:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031435
name: Monotonic speech
def: "A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice." []
is_a: HP:0031434 ! Abnormal speech prosody
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:36:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031436
name: Increased pitch variability of speech
def: "A speech pattern characterized by abnormally elevated variability of the pitch of the voice." []
is_a: HP:0031434 ! Abnormal speech prosody
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:39:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031437
name: Pregnancy exposure
def: "Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants." [ORCID:0000-0002-6387-4317]
synonym: "Exposure during pregnancy" EXACT []
is_a: HP:0002686 ! Prenatal maternal abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T13:01:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031438
name: Abnormal sex hormone-binding globulin level
def: "A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood." [PMID:26761949]
comment: Sex hormone-binding globulin (SHBG, Gene ID: 6462) binds the three sex hormones estrogen, dihydrotestosterone (DHT), and testosterone. Reduction in the level of SHBG can result in an increased level of free (unbound, and therefore active) sex hormones.
is_a: HP:0025465 ! Abnormal circulating beta globulin level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T12:29:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031439
name: Abnormal angiostatin level
def: "A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels." [PMID:12855585, PMID:23555012]
comment: Angiostatin is an internal fragment of plasminogen that specifically inhibits endothelial cell proliferation and migration, and by promoting endothelial apoptosis.
is_a: HP:0025465 ! Abnormal circulating beta globulin level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T12:31:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031440
name: obsolete Abnormal tricuspid valve morphology
is_obsolete: true
replaced_by: HP:0001702

[Term]
id: HP:0031441
name: Abnormal tricuspid valve annulus morphology
def: "Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach." []
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T13:06:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031442
name: Abnormal tricuspid chordae tendinae morphology
def: "Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve." []
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T13:37:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031443
name: Abnormal tricuspid valve leaflet morphology
def: "Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve." []
is_a: HP:0001702 ! Abnormal tricuspid valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T13:42:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031444
name: Dilatation of the tricuspid annulus
def: "An increase in the diameter of the ring (annulus) of the tricuspid valve." [PMID:3958362]
is_a: HP:0031441 ! Abnormal tricuspid valve annulus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T13:52:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031445
name: Oral mucosa nodule
is_a: HP:0011830 ! Abnormal oral mucosa morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:16:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031446
name: Erosion of oral mucosa
def: "Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion." []
is_a: HP:0011830 ! Abnormal oral mucosa morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:19:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031447
name: Penile freckling
def: "Multiple pigmented macules located on the skin of the penis." []
is_a: HP:0000036 ! Abnormality of the penis
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:28:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031448
name: Herpetiform vesicles
def: "Multiple vesicles distributed in mutiple distinct groups consisting of multiple adjacent vesicles." []
is_a: HP:0200037 ! Skin vesicle
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:44:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031449
name: Perineal hemangioma
def: "Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals." []
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:49:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031450
name: Polycyclic
def: "A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge." []
is_a: HP:0012836 ! Spatial pattern
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:00:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031451
name: Lower extremity subcutanous fat hypertrophy
def: "An abnormal increase in the amount of subcutaneous fat in the legs." [PMID:24788242]
is_a: HP:0009124 ! Abnormal adipose tissue morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:21:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031452
name: Lichenoid skin lesion
def: "Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple). shiny, isolated, flat-topped papules and plaques." [PMID:22356325]
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:34:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031453
name: Oral lichenoid lesion
def: "Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions." [PMID:22356325]
is_a: HP:0011830 ! Abnormal oral mucosa morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:39:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031454
name: Apocrine hidrocystoma
def: "A cystic lesions that forms a benign tumor of an apocrine sweat gland." [NCIT:C43342, PMID:17406184]
is_a: HP:0012842 ! Skin appendage neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:50:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031455
name: Presacral ganglioneuroma
def: "A gangioleneuroma originating from sympathetic ganglion cells in the abdomen." []
is_a: HP:0003005 ! Ganglioneuroma
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:53:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031456
name: Ectopic pregnancy
def: "A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube)." []
is_a: HP:0002686 ! Prenatal maternal abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:55:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031457
name: Pulmonary opacity
def: "Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image)." []
comment: Increased pulmonary opacity is caused by a decrease in the ratio of gas to soft tissue (blood, lung parenchyma and stroma) in the lung.
is_a: HP:0002088 ! Abnormal lung morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:59:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031458
name: Adenoiditis
def: "inflammation of the adenoid tissue." []
comment: Adenoiditis is usually caused by an infection.
is_a: HP:3000033 ! Abnormality of nasopharyngeal adenoids
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:02:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031459
name: Soft tissue neoplasm
def: "A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." [NCIT:C3377]
is_a: HP:0011793 ! Neoplasm by anatomical site
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:05:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031460
name: Benign muscle neoplasm
def: "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]." [NCIT:C4882]
is_a: HP:0031459 ! Soft tissue neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:08:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031461
name: Intramuscular Myxoma
def: "A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy." [PMID:27298930]
synonym: "IM Myxoma" EXACT HP:0045077 []
is_a: HP:0031460 ! Benign muscle neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:09:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031462
name: Musculotendinous retraction
def: "Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue." []
is_a: HP:0003549 ! Abnormality of connective tissue
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:13:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031463
name: Esophageal squamous papilloma
def: "A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia." [NCIT:C5344, PMID:27134598]
is_a: HP:0100751 ! Esophageal neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:18:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031464
name: Genital blistering
def: "The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." []
is_a: HP:0008066 ! Abnormal blistering of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:21:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031465
name: Abnormal vasa vasorum morphology
def: "A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products." [PMID:26006236]
is_a: HP:0025015 ! Abnormal vascular morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:23:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031466
name: Impairment in personality functioning
def: "A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning." [PMID:23902698]
comment: The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time.
is_a: HP:0000708 ! Behavioral abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:30:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031467
name: Negative affectivity
def: "A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states." [PMID:23902698]
is_a: HP:0031466 ! Impairment in personality functioning
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:33:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031468
name: Separation insecurity
def: "Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy." [PMID:23902698]
is_a: HP:0031466 ! Impairment in personality functioning
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:39:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031469
name: Low self esteem
def: "Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself." []
is_a: HP:0031466 ! Impairment in personality functioning
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:41:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031472
name: Risk taking
def: "Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger." [PMID:23902698]
is_a: HP:0000734 ! Disinhibition
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:44:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031473
name: Hostility
def: "Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults." [PMID:23902698]
is_a: HP:0031466 ! Impairment in personality functioning
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:45:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031474
name: Pulmonary chondroma
def: "A benign cartilaginous tumors of the lung." [PMID:27602219]
is_a: HP:0100526 ! Neoplasm of the lung
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:50:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031475
name: Nonconvulsive status epilepticus
def: "A cognitive or behavioral change that lasts for at least 30 minutes, with evidence of seizures on electroencephalogram." [PMID:17805245]
is_a: HP:0002133 ! Status epilepticus
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:57:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031476
name: Abnormal buccal mucosa cell morphology
def: "Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells)." []
comment: Buccal mucosa cells are easy to obtain and are a useful model of some other diseases. For instance, muccal mucosa cells from arrhythmogenic cardiomyopathy patients exhibit changes in the distribution of cell junction proteins similar to those seen in the heart.
is_a: HP:0025461 ! Abnormal cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:04:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031477
name: obsolete Abnormal mitral valve morphology
is_obsolete: true
replaced_by: HP:0001633

[Term]
id: HP:0031478
name: Abnormal mitral valve annulus morphology
def: "Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach." []
is_a: HP:0001633 ! Abnormal mitral valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:28:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031479
name: Dilatation of the mitral annulus
def: "An increase in the diameter of the ring (annulus) of the mitral valve." []
is_a: HP:0001633 ! Abnormal mitral valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:28:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031480
name: Abnormal mitral valve leaflet morphology
def: "Any structural anomaly of the leaflets (also known as cusps) of the mitral valve." []
is_a: HP:0001633 ! Abnormal mitral valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:30:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031481
name: Abnormal mitral valve physiology
def: "Any functional anomaly of the mitral valve." []
is_a: HP:0031650 ! Abnormal atrioventricular valve physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:37:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031482
name: Abnormal regional left ventricular contraction
def: "A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle." []
is_a: HP:0030872 ! Abnormal cardiac ventricular function
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:44:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031483
name: Reduced contraction of the left ventricular apex
def: "Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography." [PMID:8077532]
is_a: HP:0031482 ! Abnormal regional left ventricular contraction
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:45:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031484
name: Cold-induced hemolysis
def: "A form of hemolytic anemia that can be triggered by cold temperatures." []
is_a: HP:0001878 ! Hemolytic anemia
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T23:00:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031485
name: Subperiosteal bone formation
def: "The formation of new bone along the cortex and underneath the periosteum of a bone." []
synonym: "Periosteal reaction" EXACT []
is_a: HP:0030313 ! Abnormal periosteum morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T23:02:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031486
name: Vascular malformation of the lip
def: "An anomaly of blood vessels located in the lip." []
is_a: HP:0000159 ! Abnormal lip morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:21:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031487
name: Capillary malformation of the lip
def: "A vascular malformation located in the lip that is characterized by\nectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis." []
is_a: HP:0031486 ! Vascular malformation of the lip
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:22:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031488
name: Arteriovenous malformation of the lip
def: "A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus." [PMID:26618117]
synonym: "Atypical connection between arteries and veins" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
is_a: HP:0031486 ! Vascular malformation of the lip
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:24:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031489
name: Venous malformation of the lip
def: "A vascular malformation located in the lip that is related to abnormal vascular morphogenesis." [PMID:26618117]
is_a: HP:0031486 ! Vascular malformation of the lip
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:26:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031490
name: Hemangioma of the lip
def: "A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia." [PMID:26618117]
is_a: HP:0031486 ! Vascular malformation of the lip
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:28:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031491
name: Continuous spike and waves during slow sleep
def: "Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep." [PMID:28654799]
synonym: "CSWS" EXACT HP:0045077 []
is_a: HP:0025373 ! Interictal EEG abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:34:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031492
name: Epithelial neoplasm
def: "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]." [NCIT:C3709]
comment: Epithelial neoplasm is a benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.
is_a: HP:0011792 ! Neoplasm by histology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:40:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031493
name: Glandular cell neoplasm
def: "A tumor that arises from a gland cell." [NCIT:C7132]
is_a: HP:0031492 ! Epithelial neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:42:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031494
name: Ovarian mucinous tumor
def: "Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma." [PMID:24777667]
synonym: "Mucinous neoplasm of the ovary" EXACT []
is_a: HP:0031495 ! Mucinous neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:44:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031495
name: Mucinous neoplasm
is_a: HP:0031493 ! Glandular cell neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:48:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031496
name: Mucinous cystic neoplasm of the pancreas
def: "Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma." [NCIT:C41247, PMID:21128317]
is_a: HP:0031495 ! Mucinous neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:49:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031497
name: Mucinous colorectal carcinoma
def: "A subtype of colorectal carcinoma with mucin lakes." []
is_a: HP:0031495 ! Mucinous neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:52:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031498
name: Mucinous gastric carcinoma
def: "A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor." [PMID:28501848]
is_a: HP:0031495 ! Mucinous neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:55:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031499
name: Appendiceal mucinous neoplasm
def: "An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles." [PMID:23439060]
is_a: HP:0031495 ! Mucinous neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:59:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031500
name: Abdominal mass
def: "An abnormal enlargement or swelling in the abdomen." []
is_a: HP:0001438 ! Abnormality of abdomen morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:02:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031501
name: Pelvic mass
def: "An abnormal enlargement or swelling in the pelvic region." []
is_a: HP:0001438 ! Abnormality of abdomen morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:03:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031502
name: Trophoblastic tumor
def: "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]." [NCIT:C3422]
is_a: HP:0100728 ! Germ cell neoplasia
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:07:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031503
name: Night gasping
def: "Waking up at night gasping for breath." []
is_a: HP:0002793 ! Abnormal pattern of respiration
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:14:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031504
name: Foamy urine
def: "Urine has an increased amount of frothy fine bubbles." []
synonym: "Frothy urine" EXACT []
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:16:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031505
name: Abnormal circulating thyroxine level
def: "A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)." []
is_a: HP:0031508 ! Abnormal thyroid hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T01:52:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031506
name: Increased circulating thyroxine level
def: "An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)." []
is_a: HP:0031505 ! Abnormal circulating thyroxine level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T01:54:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031507
name: Decreased circulating thyroxine level
def: "A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)." []
synonym: "Reduced T4 plasma level" EXACT HP:0045077 []
is_a: HP:0031505 ! Abnormal circulating thyroxine level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T01:55:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031508
name: Abnormal thyroid hormone level
def: "Any deviation from the normal range of the hormones produced by the thyroid gland." []
is_a: HP:0002926 ! Abnormality of thyroid physiology
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T01:56:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031509
name: Dry nipple
synonym: "Abnormally dry skin in the area of the nipple of the breast." EXACT []
is_a: HP:0004404 ! Abnormal nipple morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T02:19:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031510
name: Linear earlobe crease
def: "A transverse linear fissure (crease) in the lobule of the ear." []
comment: This feature may be observed in Beckwith Wiedemann syndrome.
is_a: HP:0000363 ! Abnormality of earlobe
property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T03:01:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031511
name: Diagonal earlobe crease
def: "Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees." [PMID:2713193]
is_a: HP:0000363 ! Abnormality of earlobe
property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T03:03:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031512
name: Abnormal cutaneous collagen fibril morphology
comment: An anomaly of the collagen fibers located in the skin.
is_a: HP:0011121 ! Abnormality of skin morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T01:31:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031513
name: Luse bodies
def: "Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands." []
comment: The periodicity of normal collagen fibers is substantially lower than that of Luse bodies.
is_a: HP:0031512 ! Abnormal cutaneous collagen fibril morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T01:34:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031514
name: Increased proportion of exhausted T cells
def: "An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells." [PMID:26544946]
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:12:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031515
name: Abnormal meiosis
def: "Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells." []
is_a: HP:0012243 ! Abnormal reproductive system morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:18:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031516
name: Oocyte arrest at metaphase I
def: "Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage." [PMID:27273344]
comment: An essential feature of successful mammalian reproduction is the fusion of a sperm with a metaphase II oocyte. Oocytes are first arrested at prophase I and resume meiosis in response to luteinizing hormone (LH). Following spindle assembly and extrusion of the first polar body, oocytes are again arrested at metaphase II until fertilization.
is_a: HP:0031515 ! Abnormal meiosis
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:21:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031517
name: Verruciform xanthoma
def: "A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms." [PMID:24574658]
comment: This lesion is seen chiefly in the oral mucosa.
is_a: HP:0000991 ! Xanthomatosis
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:25:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031518
name: Absent posterior alpha rhythm
def: "Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above." [PMID:24574560]
is_a: HP:0025373 ! Interictal EEG abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:28:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031519
name: Cauliflower deformity of dermal collagen fibrils
def: "An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electorn microscopy." [PMID:3224502]
is_a: HP:0031512 ! Abnormal cutaneous collagen fibril morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:32:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031520
name: Groin pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region." []
is_a: HP:0012531 ! Pain
property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:40:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031521
name: Vaginal clear cell adenocarcinoma
def: "A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm." [NCIT:C7735, PMID:11444201]
synonym: "Clear cell adenocarcinoma of the vagina" EXACT []
is_a: HP:0100650 ! Vaginal neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T01:45:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031522
name: Cervical clear cell adenocarcinoma
def: "A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm." [NCIT:C6344]
synonym: "Clear cell carcinoma of cervix" EXACT []
is_a: HP:0100650 ! Vaginal neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T01:51:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031523
name: Salivary gland oncocytoma
def: "A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria." [NCIT:C5932, PMID:20181155]
comment: Most cases of salivary gland oncocytoma occur in the parotid gland.
synonym: "Parotid oncocytoma" RELATED []
is_a: HP:0100684 ! Salivary gland neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T01:57:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031524
name: Ampulla of Vater carcinoma
def: "A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct." [NCIT:C3908]
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T02:03:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031525
name: Keratoacanthoma
def: "Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals." [NCIT:C3146, PMID:24376301]
is_a: HP:0008069 ! Neoplasm of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T02:14:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031526
name: Subretinal fluid
def: "Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane." []
synonym: "Sub-retinal fluid" EXACT []
is_a: HP:0000479 ! Abnormal retinal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:47:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031527
name: Intraretinal fluid
def: "Edema/fluid accumulating within the retinal layers." []
synonym: "Intra-retinal fluid" EXACT []
is_a: HP:0000479 ! Abnormal retinal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:47:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031528
name: Subretinal deposits
def: "Deposits accumulating between the outer retina and the retinal pigment epithelium." []
is_a: HP:0000479 ! Abnormal retinal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:49:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031529
name: Focal subretinal deposits
def: "Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution." []
is_a: HP:0031528 ! Subretinal deposits
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:49:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031530
name: Multifocal subretinal deposits
def: "Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci." []
is_a: HP:0031528 ! Subretinal deposits
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:49:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031531
name: Sub-RPE deposits
def: "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane." []
comment: This feature is related to Subretinal hyporeflective spaces on macular OCT.
is_a: HP:0000479 ! Abnormal retinal morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:50:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031532
name: Focal sub-RPE deposits
def: "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus." []
is_a: HP:0031531 ! Sub-RPE deposits
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:51:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031533
name: Multifocal sub-RPE deposits
def: "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci." []
is_a: HP:0031531 ! Sub-RPE deposits
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:51:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031534
name: Passive dorsiflexion of the 5th finger more than 90 degrees
def: "An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal." [PMID:24358988]
comment: This feature is tested on the right and left side and if positive, each feature contributes one point to the Beighton score.
is_a: HP:0004207 ! Abnormal 5th finger morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:56:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031535
name: Increased theta frequency activity in EEG
def: "Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution." []
is_a: HP:0025373 ! Interictal EEG abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:03:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031536
name: Separate origin of the left anterior descending and left circumflex artery
def: "Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA)." [PMID:27358682]
is_a: HP:0011636 ! Abnormal coronary artery origin
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:16:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031537
name: Anomalous origin of the left circumflex artery from the right coronary artery
def: "An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA)." [PMID:27358682]
is_a: HP:0025505 ! Anomalous origin of the circumflex artery from the right sinus of Valsalva
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:19:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031538
name: Abnormal dermoepidermal junction morphology
def: "Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments." [PMID:1097542]
is_a: HP:0011121 ! Abnormality of skin morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:32:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031539
name: Linear IgA deposits along the epidermal basement membrane zone
def: "Presence of IgA antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy." [PMID:24160488]
is_a: HP:0031538 ! Abnormal dermoepidermal junction morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:33:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031540
name: Linear IgG deposits along the epidermal basement membrane zone
def: "Presence of IgG antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy." [PMID:24160488]
is_a: HP:0031538 ! Abnormal dermoepidermal junction morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:35:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031541
name: Linear C3 deposits along the epidermal basement membrane zone
def: "Presence of complement C3 in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy." [PMID:24160488]
is_a: HP:0031538 ! Abnormal dermoepidermal junction morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:36:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031542
name: Myelin-like whorls in vacuolated fibers
def: "Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner." [PMID:18974994]
synonym: "Myelin-like whorls in vacuolated fibres" EXACT HP:0045076 []
is_a: HP:0004303 ! Abnormality of muscle fibers
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:38:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031544
name: Elevated propionylcarnitine level
def: "An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency." []
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:57:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031545
name: Abnormally low T cell receptor excision circle level
def: "Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells." [PMID:22001765]
comment: T-cell receptor excision circle (TRECs) are extrachromosomal DNA byproducts of T-cell receptor rearrangement and are nonreplicative. TREC analysis provides a very specific assessment of T-cell recovery (eg, after hematopoietic cell transplantation) or numerical T-cell competence
is_a: HP:0011839 ! Abnormal T cell count
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T22:20:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031546
name: Cardiac conduction abnormality
def: "Any anomaly of the progression of electrical impulses through the heart." []
comment: The conduction system of the heart initiates and coordinates the electric signal that causes the rhythmic and synchronized contractions of the atria and ventricles. In higher vertebrates, this system comprises the sinuatrial (SAN) and atrioventricular nodes (AVN) and the wiring of the ventricles. The latter comprises the atrioventricular bundle (AVB), the left and right bundle branches (BBs), and the peripheral ventricular conduction system (PVCS).
synonym: "Abnormality of cardiac conduction system" EXACT []
synonym: "Heart conduction disorder" EXACT []
is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T22:36:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031547
name: Abnormal QT interval
def: "Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." []
is_a: HP:0003115 ! Abnormal EKG
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T22:39:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031548
name: Follicular infundibulum tumor
def: "A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma." [NCIT:C4469, PMID:25387502]
synonym: "Basal cell hamartoma with follicular differentiation" EXACT []
is_a: HP:0012842 ! Skin appendage neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:07:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031549
name: Lymphocytoma cutis
def: "Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphonas,1 referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis." [PMID:24346899]
synonym: "Skin pseudolymphoma" EXACT []
synonym: "Spiegler-Fendt sarcoid" EXACT []
is_a: HP:0008069 ! Neoplasm of the skin
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:14:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031550
name: Abnormal flow cytometry test rest
def: "Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules." []
is_a: HP:0025354 ! Abnormal cellular phenotype
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:18:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031551
name: Reduced cell surface marker level
def: "Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry." []
is_a: HP:0031550 ! Abnormal flow cytometry test rest
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:18:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031552
name: Reduced fibroblast surface marker level
def: "Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry." []
is_a: HP:0031551 ! Reduced cell surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:21:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031553
name: Reduced granulocyte surface marker level
def: "Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry." []
is_a: HP:0031551 ! Reduced cell surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:21:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031554
name: Reduced granulocyte CD55 level
def: "Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry." []
is_a: HP:0031553 ! Reduced granulocyte surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031555
name: Reduced granulocyte CD59 level
def: "Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry." []
is_a: HP:0031553 ! Reduced granulocyte surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031556
name: Reduced granulocyte CD16 level
def: "Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry." []
is_a: HP:0031553 ! Reduced granulocyte surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031557
name: Reduced fibroblast CD55 level
def: "Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry." []
is_a: HP:0031552 ! Reduced fibroblast surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031558
name: Reduced fibroblast CD59 level
def: "Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry." []
is_a: HP:0031552 ! Reduced fibroblast surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031559
name: Reduced fibroblast CD16 level
def: "Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry." []
is_a: HP:0031552 ! Reduced fibroblast surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031560
name: Coronary cameral fistula
def: "An abnormal communication between coronary artery and a cardiac chamber." [PMID:26240737]
comment: Coronary cameral fistulas are usually congenital and asymptomatic in majority of patients.
xref: Fyler:2233
is_a: HP:0011641 ! Coronary artery fistula
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:27:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031561
name: Coronary cameral fistula to right ventricle
def: "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle." [MP:0011684]
is_a: HP:0031560 ! Coronary cameral fistula
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:29:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031562
name: Balanced double aortic arch
def: "A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch." [PMID:22073330]
xref: Fyler:2780
is_a: HP:0011590 ! Double aortic arch
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:31:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031563
name: Coronary arteriovenous fistula
def: "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation." [MP:0011656]
xref: Fyler:2240
is_a: HP:0011641 ! Coronary artery fistula
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T12:05:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031564
name: Bronchial isomerism
def: "An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism)." [PMID:21731561]
is_a: HP:0031853 ! Isomerism
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T22:43:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031565
name: Abdominal situs ambiguus
def: "An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements." [Fyler:3817]
xref: Fyler:3817
is_a: HP:0011620 ! Abnormality of abdominal situs
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T22:56:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031566
name: Abnormal pulmonary valve cusp morphology
def: "Any structural anomaly of the pulmonary valve leaflets." [Fyler:1652]
xref: Fyler:1652
is_a: HP:0001641 ! Abnormal pulmonary valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:10:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031567
name: Abnormal aortic valve cusp morphology
def: "Any structural anomaly of the aortic valve leaflets." [Fyler:1480]
xref: Fyler:1480
is_a: HP:0001646 ! Abnormal aortic valve morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:13:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031568
name: Thickened aortic valve cusp
def: "An abnormally increased thickness of a leaflet of the aortic valve." [Fyler:1486, PMID:9360334]
xref: Fyler:1486
is_a: HP:0031567 ! Abnormal aortic valve cusp morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:18:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031569
name: Absent aortic valve cusps
def: "A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva." [Fyler:1484, PMID:2274446]
synonym: "Absent aortic valve" EXACT []
xref: Fyler:1484
is_a: HP:0031567 ! Abnormal aortic valve cusp morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:21:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031570
name: Tessier number 0 facial cleft
def: "A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension." [PMID:2503273]
is_a: HP:0100629 ! Midline facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:22:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031571
name: Paramedian facial cleft
def: "A type of facial cleftlocated near to but not directly on the midline of the face." []
is_a: HP:0002006 ! Facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:27:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031572
name: Tessier number 1 facial cleft
def: "As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly." [PMID:2503273]
is_a: HP:0031571 ! Paramedian facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:27:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031573
name: Tessier number 2 facial cleft
def: "As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening." [PMID:2503273]
is_a: HP:0031571 ! Paramedian facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:36:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031574
name: Orbital cleft
def: "A facial cleft characterized by involvment of the orbit." [PMID:2503273]
is_a: HP:0002006 ! Facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:37:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031575
name: Tessier number 3 facial cleft
def: "As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced." [PMID:2503273]
is_a: HP:0031574 ! Orbital cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:38:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031576
name: Tessier number 4 facial cleft
def: "The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly." [PMID:2503273]
is_a: HP:0031574 ! Orbital cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:40:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031577
name: Tessier number 5 facial cleft
def: "The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium." [PMID:2503273]
is_a: HP:0031574 ! Orbital cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:42:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031578
name: Tessier number 6 facial cleft
def: "A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid." [PMID:2503273]
is_a: HP:0100731 ! Transverse facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:43:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031579
name: Tessier number 7 facial cleft
def: "The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate." [PMID:2503273]
is_a: HP:0100731 ! Transverse facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:45:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031580
name: Tessier number 8 facial cleft
def: "The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae." [PMID:2503273]
is_a: HP:0100731 ! Transverse facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:46:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031581
name: Tessier number 9 facial cleft
def: "This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa." [PMID:2503273]
is_a: HP:0031574 ! Orbital cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:48:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031582
name: Tessier number 10 facial cleft
def: "In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric." [PMID:2503273]
is_a: HP:0031574 ! Orbital cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:49:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031583
name: Tessier number 11 facial cleft
def: "An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal." [PMID:2503273]
is_a: HP:0031574 ! Orbital cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:51:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031584
name: Tessier number 12 facial cleft
def: "There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate." [PMID:2503273]
is_a: HP:0031571 ! Paramedian facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:52:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031585
name: Tessier number 13 facial cleft
def: "There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above." [PMID:2503273]
is_a: HP:0031571 ! Paramedian facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:54:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031586
name: Tessier number 14 facial cleft
def: "This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan." [PMID:2503273]
is_a: HP:0100629 ! Midline facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:56:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031587
name: Tessier number 30 facial cleft
def: "A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis." [PMID:22529554]
is_a: HP:0100629 ! Midline facial cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:58:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031588
name: Unhappy demeanor
def: "A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events." []
is_a: HP:0100851 ! Abnormal emotion/affect behavior
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T13:22:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031589
name: Suicidal ideation
def: "Frequent thinking about or preoccupation with killing onself." []
is_a: HP:0100851 ! Abnormal emotion/affect behavior
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T13:24:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031590
name: Asthenopia
def: "Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache." []
synonym: "Eye strain" EXACT layperson []
is_a: HP:0012373 ! Abnormal eye physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T13:28:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031591
name: Enlarged Eustachian valve
def: "An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava." [PMID:12484622]
comment: During fetal life, the eustachian valve directs oxygen-rich blood from the inferior vena cava (IVC) toward the foramen ovale and away from the tricuspid valve. After the closure of the foramen ovale, it does not have a specific function. In echocardiographic examinations, the eustachian valve may appear as a thin flap originating from the orifice of the IVC, or it may be totally absent. Sometimes it may appear as a rigid, elongated structure in the inferior portion of the right atrium or as a membranous, undulating, echogenic mass within the right atrial cavity.
synonym: "Enlarged inferior vena cava valve" EXACT []
synonym: "Giant Eustachian valve" NARROW []
is_a: HP:0025576 ! Abnormal inferior vena cava morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T12:51:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031592
name: Situs inversus with levocardia
def: "Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia." [Fyler:0102, Fyler:102, MP:0011253]
is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:19:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031593
name: Abnormal PR interval
def: "An anomaly of the PR interval, which is the portion of the ECG from the end of the P wave to the beginning of the QRS complex. A normal PR interval in adults is from 0.12-0.2 seconds." []
comment: The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle.
is_a: HP:0003115 ! Abnormal EKG
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:27:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031594
name: PR segment depression
def: "A reduction in voltage of the PR segment below baseline." []
comment: The differential diagnosis includes normal variant, pericarditis or  atrial infarct.
synonym: "PR interval depression" EXACT []
synonym: "PTa depression" EXACT []
is_a: HP:0031596 ! Abnormal PR segment
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:31:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031595
name: Abnormal P wave
def: "Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria." []
comment: P waves are normally upright in leads I and II and inverted in aVR.
is_a: HP:0003115 ! Abnormal EKG
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:31:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031596
name: Abnormal PR segment
def: "An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric." []
comment: The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle.
is_a: HP:0003115 ! Abnormal EKG
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:35:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031597
name: PR segment elevation
def: "An increase in voltage of the PR segment below baseline." []
synonym: "PR interval elevation" EXACT []
synonym: "PTa elevation" EXACT []
is_a: HP:0031596 ! Abnormal PR segment
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:45:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031598
name: Notched P wave
def: "V-shaped cut (notch) in the middle of the P wave." []
comment: One may observe notched P-waves in the frontal plane in partial interatrial block.
is_a: HP:0031595 ! Abnormal P wave
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:53:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031599
name: P mitrale
def: "A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II." []
is_a: HP:0031595 ! Abnormal P wave
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T14:01:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031600
name: P wave inversion
def: "P wave below insteadof above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves." []
is_a: HP:0031595 ! Abnormal P wave
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T14:02:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031601
name: P pulmonale
def: "The presence of tall, peaked P waves in EKG lead II." []
comment: P pulomonale may indicate right atrial enlargement, usually due to pulmonary hypertension.
is_a: HP:0031595 ! Abnormal P wave
property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T14:02:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031602
name: Abnormal mucociliary clearance
def: "An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary \nbeating." []
synonym: "Abnormal mucociliary transport" EXACT []
is_a: HP:0002795 ! Functional respiratory abnormality
property_value: http://purl.org/dc/elements/1.1/date 2017-10-22T12:41:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031603
name: Impaired nasal mucociliary clearance
def: "An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes." []
synonym: "Abnormal saccharine test" NARROW []
is_a: HP:0031602 ! Abnormal mucociliary clearance
property_value: http://purl.org/dc/elements/1.1/date 2017-10-22T12:44:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031604
name: Agenesis of the carotid canal
def: "A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse." [PMID:21339912]
comment: This abnormally is associated with Internal carotid artery (ICA) agenesis, since the ICA normally enters the skull through the carotid canal.
synonym: "Bony carotid canal agenesis" EXACT []
is_a: HP:0009911 ! Abnormal temporal bone morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-10-22T13:26:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031605
name: Abnormality of fundus pigmentation
def: "Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve." []
comment: Alterations in pigmentation of the fundus are typically not a result of changes in the retina. The variable pigmentation within both RPE and choroid combine to change profoundly the appearance of the normal fundus between individuals. This is partly a racial characteristic and partly genetic.
is_a: HP:0001098 ! Abnormal fundus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-01T11:02:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031606
name: Retinal cotton wool spot
def: "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." [PMID:6169833]
is_a: HP:0030506 ! Yellow/white lesions of the retina
property_value: http://purl.org/dc/elements/1.1/date 2017-12-02T11:22:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031607
name: Pelvic organ prolapse
def: "Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position." [PMID:21505577, Sanford:krageth]
is_a: HP:0001438 ! Abnormality of abdomen morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-09T14:09:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031609
name: Geographic atrophy
def: "Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium." [ORCID:0000-0003-0986-4123, PMID:24158023]
is_a: HP:0001105 ! Retinal atrophy
property_value: http://purl.org/dc/elements/1.1/date 2017-12-10T14:57:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031610
name: Recurrent shoulder dislocation
def: "Shoulder dislocation occurring repeated times." [PMID:29197942, Sanford:krageth]
synonym: "Multiple shoulder dislocation" EXACT layperson []
is_a: HP:0003834 ! Shoulder dislocation
is_a: HP:0031869 ! Recurrent joint dislocation
property_value: http://purl.org/dc/elements/1.1/date 2017-12-11T10:45:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031611
name: Sub-inner limiting membrane hemorrhage
def: "A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer." [PMID:17229799]
comment: Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fibre layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment.
synonym: "Sub-ILM haemorrhage" EXACT HP:0045077 []
synonym: "Sub-ILM hemorrhage" EXACT HP:0045077 []
synonym: "Sub-inner limiting membrane haemorrhage" EXACT HP:0045076 []
is_a: HP:0000573 ! Retinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T12:30:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031613
name: Inferior chorioretinal coloboma
def: "Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus." []
is_a: HP:0000567 ! Chorioretinal coloboma
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T12:49:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031614
name: Inferior retinal coloboma
def: "A notch or cleft of the lower part of the retina." []
is_a: HP:0000480 ! Retinal coloboma
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T12:58:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031615
name: Hypopyon
def: "Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber." []
is_a: HP:0000593 ! Abnormal anterior chamber morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:13:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031616
name: Anterior chamber flare
def: "An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber." [PMID:16196117]
comment: Anterior chamber flare grade 0 (i.e., a normal finding) should be coded as the negation of this term.
is_a: HP:0000593 ! Abnormal anterior chamber morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:18:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031618
name: Anterior chamber flare grade 1+
def: "Faint anterior chamber flare." [PMID:16196117]
is_a: HP:0031616 ! Anterior chamber flare
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:29:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031619
name: Anterior chamber flare grade 2+
def: "Moderate anterior chamber flare (iris and lens details clear)." [PMID:16196117]
is_a: HP:0031616 ! Anterior chamber flare
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:29:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031620
name: Anterior chamber flare grade 3+
def: "Marked anterior chamber flare (iris and lens details hazy)." [PMID:16196117]
is_a: HP:0031616 ! Anterior chamber flare
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:31:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031621
name: Anterior chamber flare grade 4+
def: "Intense anterior chamber flare (fibrin/plastic aqueous)." [PMID:16196117]
is_a: HP:0031616 ! Anterior chamber flare
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:32:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031622
name: Brown anomaly
def: "An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result." [ORCID:0000-0003-0986-4123, PMID:28841851]
synonym: "Brown syndrome" EXACT []
is_a: HP:0025068 ! Incomitant strabismus
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:37:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031623
name: Brow ptosis
def: "Drooping of the upper eyebrow below the superior orbital rim." []
comment: Eybrow ptosis can be caused by age-related changes in the periorbital soft tissues and soft tissues of the face.
synonym: "Drooping brow" EXACT layperson []
is_a: HP:0000534 ! Abnormal eyebrow morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:48:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031624
name: Moderate myopia
def: "A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters." []
is_a: HP:0000545 ! Myopia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T14:07:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031625
name: Pseudoaneurysm
comment: Pseudoaneurysms may occur under 4 circumstances: (1) after catheterization; (2) at the site of native artery and synthetic graft anastomosis (eg, aortofemoral bypass graft); (3) trauma; and (4) infection (eg, mycotic PSA).
synonym: "A contained rupture of an artery with a disruption in all 3 layers of the arterial wall." EXACT [PMID:17515479]
is_a: HP:0002617 ! Dilatation
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T15:55:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031626
name: Coronary ostial atresia
def: "Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve." []
comment: Coronary ostial atresia is usually associated with ischemic manifestations
synonym: "Atresia of coronary ostium" EXACT []
is_a: HP:0011636 ! Abnormal coronary artery origin
property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T16:26:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031627
name: Globus pallidus calcification
def: "Pathological deposition of calcium salts in the globus pallidus." []
is_a: HP:0002453 ! Abnormal globus pallidus morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:15:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031628
name: Aborted sudden cardiac death
def: "Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it." [ORCID:0000-0001-5835-5515, PMID:25187745]
is_a: HP:0001695 ! Cardiac arrest
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:22:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031629
name: Impaired tandem gait
def: "Reduced ability to walk in a straight line while placing the feet heel to toe." []
synonym: "Clumsy tandem walking" EXACT layperson []
is_a: HP:0001288 ! Gait disturbance
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:38:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031630
name: Abnormal subpleural morphology
def: "Any structural anomaly located between the pleura and the chest wall." []
is_a: HP:0002088 ! Abnormal lung morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:44:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031631
name: Subpleural honeycombing
def: "So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space." [PMID:23220902]
comment: Pathologically, honeycombing represents destroyed and fibrotic lung tissue that contains numerous cystic airspaces with thick fibrous walls.
is_a: HP:0031630 ! Abnormal subpleural morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:47:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031632
name: Anomalous origin of the right subclavian artery from the descending aorta
def: "Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery." []
is_a: HP:0031251 ! Abnormal subclavian artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T01:01:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031633
name: Isolation of the left subclavian artery
def: "The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus." [MP:0011745]
xref: Fyler:2732
is_a: HP:0031251 ! Abnormal subclavian artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T01:04:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031634
name: Anomalous origin of the left common carotid artery from the main pulmonary artery
def: "The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery." [PMID:27974985]
is_a: HP:0430021 ! Abnormal common carotid artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:26:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031635
name: Anomalous origin of the left common carotid artery from the brachiocephalic artery
def: "The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery." [PMID:18694519]
synonym: "Anomalous origin of the left common carotid artery from the brachiocephalic trunk" EXACT []
is_a: HP:0430021 ! Abnormal common carotid artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:29:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031636
name: Anomalous origin of the right common carotid artery from the aorta
def: "The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta." [PMID:12601459]
is_a: HP:0430021 ! Abnormal common carotid artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:31:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031637
name: Right coronary artery ostial atresia
def: "Absence of the normal opening of the coronary ostium from which the right main coronary artery originates." []
is_a: HP:0031626 ! Coronary ostial atresia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:45:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031638
name: Anomalous origin of the left anterior descending artery from the pulmonary artery
def: "The left anterior descending artery (LAD) branches off from the pulmonary artery." [PMID:27358682]
comment: Normally the left main coronary artery bifurcates into the left circumflex artery and the LAD.
is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:50:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031639
name: Absent left main coronary artery
def: "The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava." []
synonym: "Absent LMCA" EXACT HP:0045077 []
is_a: HP:0011636 ! Abnormal coronary artery origin
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:56:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031640
name: Abnormal radial artery morphology
def: "Any structural anomaly of the radial artery." []
is_a: HP:0011004 ! Abnormal systemic arterial morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T13:30:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031643
name: Fusiform ascending tubular aorta aneurysm
def: "An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall." []
is_a: HP:0004970 ! Ascending tubular aorta aneurysm
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:02:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031644
name: Fusiform abdominal aortic aneurysm
def: "A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall" []
is_a: HP:0005112 ! Abdominal aortic aneurysm
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:14:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031645
name: Saccular abdominal aortic aneurysm
def: "An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall." []
is_a: HP:0005112 ! Abdominal aortic aneurysm
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:14:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031646
name: Fusiform aortic arch aneurysm
def: "A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall." []
is_a: HP:0005113 ! Aortic arch aneurysm
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:19:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031647
name: Saccular aortic arch aneurysm
def: "An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall." []
is_a: HP:0005113 ! Aortic arch aneurysm
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:19:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031648
name: Penetrating aortic ulcer
def: "A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture." []
comment: Pentrating aortic ulcers are typically caused by atherosclerotic lesions.
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:55:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031649
name: Aortic rupture
def: "Tearing of the aortic wall generally associated with profuse internal bleeding." []
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:01:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031650
name: Abnormal atrioventricular valve physiology
def: "Any functional defect of the mitral or tricuspid valve." []
is_a: HP:0031653 ! Abnormal heart valve physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:17:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031651
name: Abnormal tricuspid valve physiology
def: "Any functional defect of the tricuspid valve." []
is_a: HP:0031650 ! Abnormal atrioventricular valve physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:19:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031652
name: Abnormal aortic valve physiology
is_a: HP:0031653 ! Abnormal heart valve physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:20:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031653
name: Abnormal heart valve physiology
def: "Any functional abnormality of a cardiac valve." []
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:21:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031654
name: Abnormal pulmonary valve physiology
def: "Any functional anomaly of the pumonary valve." []
is_a: HP:0031653 ! Abnormal heart valve physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:24:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031655
name: Quadricuspid aortic valve
def: "The presence of an aortic valve with four instead of the normal three cusps (flaps)." [PMID:27390747]
is_a: HP:0031567 ! Abnormal aortic valve cusp morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:32:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031656
name: Systolic anterior motion of the mitral valve
def: "Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole." [PMID:22847594]
is_a: HP:0031481 ! Abnormal mitral valve physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:49:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031657
name: Abnormal heart sound
def: "Any abnormal noise generated by the beating heart." []
comment: The first two heart sounds, S1 and S2, define ventricular systole. S1 comprises the closure of the mitral and tricuspid valves. S2 is produced by aortic and pulmonic valve closure.
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:56:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031658
name: Third heart sound
def: "The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients." []
is_a: HP:0031657 ! Abnormal heart sound
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:01:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031659
name: Fourth heart sound
is_a: HP:0031657 ! Abnormal heart sound
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:03:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031660
name: Loud first heart sound
def: "Abnormally increased volume of the first heart sound." []
comment: S1 may be loud in early phases of rheumatic mitral stenosis.
is_a: HP:0031657 ! Abnormal heart sound
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:05:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031661
name: Abnormal second heart sound
def: "Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration." []
is_a: HP:0031657 ! Abnormal heart sound
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:06:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031662
name: Fixed splitting of the second heart sound
def: "Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration." []
comment: Fixed splitting of S2 may occur in patients with secundum atrial septal defect.
synonym: "Fixed splitting of S2" EXACT HP:0045077 []
is_a: HP:0031661 ! Abnormal second heart sound
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:08:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031663
name: Paradoxical splitting of the second heart sound
def: "Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern)." []
synonym: "Paradoxical splitting of S2" EXACT HP:0045077 []
synonym: "Reversed splitting of S2" EXACT HP:0045077 []
synonym: "Reversed splitting of the second heart sound" EXACT []
is_a: HP:0031661 ! Abnormal second heart sound
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:11:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031664
name: Systolic heart murmur
def: "A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2." []
is_a: HP:0030148 ! Heart murmur
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:16:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031665
name: Midsystolic murmur
def: "A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern." []
comment: A common cause of midsystolic murmurs in adults is aortic stenosis.
is_a: HP:0031664 ! Systolic heart murmur
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:17:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031666
name: Late systolic murmur
def: "A murmur that occurs in the latter phase of systole." []
comment: A late systolic murmur heard best at the apex of the heart may indicate mitral valve prolapse.
is_a: HP:0031664 ! Systolic heart murmur
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:19:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031667
name: Holosystolic murmur
def: "A heart murmur that occurs during the entire systolic phase from S1 to S2." []
is_a: HP:0031664 ! Systolic heart murmur
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:20:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031668
name: Diastolic heart murmur
def: "A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1." []
comment: Diastolic murmurs always signify structural heart disease.
is_a: HP:0030148 ! Heart murmur
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:21:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031669
name: Middiastolic murmur
def: "A murmur that occurs in the middle of the diastolic phase." []
comment: A middiastolic murmur may indicate mitral stenosis.
is_a: HP:0031668 ! Diastolic heart murmur
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:22:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031670
name: Continuous heart murmur
def: "A murmur that occurs in both systole and diastole." []
comment: Continuous murmurs are related to pressure gradients that persist across systole and diastole. A classic example is the murmur related to patent ductus arteriosus.
is_a: HP:0030148 ! Heart murmur
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:23:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031671
name: Typical atrial flutter
def: "Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative." [PMID:28835836]
is_a: HP:0004749 ! Atrial flutter
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:44:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031672
name: Reverse typical atrial flutter
def: "A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1." [PMID:28835836]
is_a: HP:0004749 ! Atrial flutter
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:47:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031673
name: Orthodromic atrioventricular reentrant tachycardia
def: "A type of atrioventricular reentrant tachycardia (AVRT) where the are the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction." [PMID:29234357]
synonym: "Orthodromic AVRT" EXACT HP:0045077 []
is_a: HP:0011717 ! Atrioventricular reentrant tachycardia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:55:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031674
name: Antidromic atrioventricular reentrant tachycardia
def: "A type of atrioventricular reentrant tachycardia (AVRT) where the are the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction." []
synonym: "Antidromic AVRT" EXACT HP:0045077 []
is_a: HP:0011717 ! Atrioventricular reentrant tachycardia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:57:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031675
name: Fascicular left ventricular tachycardia
def: "A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG)." [PMID:29184614]
comment: Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic).
is_a: HP:0004756 ! Ventricular tachycardia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:01:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031676
name: Monomorphic ventricular tachycardia
def: "A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so)." []
comment: Monomorphic VT originates from a single ventricular focus.
is_a: HP:0004756 ! Ventricular tachycardia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:06:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031677
name: Polymorphic ventricular tachycardia
def: "A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat)." []
is_a: HP:0004756 ! Ventricular tachycardia
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:08:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031678
name: Atherosclerotic lesion
def: "A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus." [PMID:8172861]
is_a: HP:0002621 ! Atherosclerosis
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:19:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031679
name: Type I atherosclerotic lesion
def: "Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells)." []
comment: Type I lesions consist of the first microscopically and chemically detectable lipid deposits in the intima and the cell reactions associated with such deposits.The initial histological changes in the human intima are minimal. Small, isolated groups of macrophages containing lipid droplets (macrophage foam cells) form. In coronary arteries these cells pref- erentially accumulate in regions of the intima that have an adaptive intimal thickening of the eccentric type.
is_a: HP:0031678 ! Atherosclerotic lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:29:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031680
name: Type II atherosclerotic lesion
def: "Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid." [PMID:8172861]
is_a: HP:0031678 ! Atherosclerotic lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:31:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031681
name: Type III atherosclerotic lesion
def: "Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions." [PMID:8172861]
is_a: HP:0031678 ! Atherosclerotic lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:33:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031682
name: Type V atherosclerotic lesion
def: "Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant." []
is_a: HP:0031678 ! Atherosclerotic lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:38:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031683
name: Type VI atherosclerotic lesion
def: "Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes." [PMID:7648691]
comment: Morbidity and mortality from atherosclerosis is largely due to type IV and type V lesions in which disruptions of the lesion surface, hematoma or hemorrhage, and thrombotic deposits have developed. Type IV or V lesions with one or more of these additional features are classified as type VI and may also be referred to as complicated lesions. Type VI may be subdivided by the superimposed features. Thus, disruption of the surface may be labeled type VIa; hematoma or hemorrhage, type VIb; and thrombosis, type VIc. Type VIabc indicates the presence of all three features.
is_a: HP:0031678 ! Atherosclerotic lesion
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:45:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031684
name: Renal artery atherosclerosis
def: "An atherosclerotic lesion located in the renal artery." []
is_a: HP:0008776 ! Abnormal renal artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T18:25:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031685
name: Abnormal stool composition
synonym: "Abnormal faeces composition" EXACT HP:0045076 []
synonym: "Abnormal feces composition" EXACT []
is_a: HP:0025033 ! Abnormality of digestive system morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T21:04:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031686
name: Increased stool alpha1-antitrypsin concentration
def: "An abnormally elevated amount of alpha1-antitrypsin in the feces." []
comment: Alpha-1-antitrypsin is resistant to degradation by digestive enzymes and can therefore be used as a marker for the presence of blood proteins in the intestinal tract (e.g., protein-losing enteropathy).
is_a: HP:0031685 ! Abnormal stool composition
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T21:09:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031687
name: Abnormally loud pulmonic component of the second heart sound
comment: The pulmonic component is considered to be abnormally loud in a subject over age 20 if it is greater than the aortic component in the second left ICS or if it is audible at the cardiac apex. This may be due either to pulmonary artery hypertension or right ventricular dilatation, with part of the right ventricle assuming the position normally occupied by the left ventricle. A split second sound at the apex is, therefore, definitely abnormal. The loud P2 commonly heard at the apex in patients with atrial septal defect is probably due to a dilated right ventricle encroaching upon the cardiac apex [source-NCBI:NBK341].
synonym: "Accentuation of the pulmonic component of the second heart sound" EXACT []
is_a: HP:0031661 ! Abnormal second heart sound
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T21:17:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031688
name: Erythroid dysplasia
def: "Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. In peripheral blood." [PMID:26791933]
is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:04:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031689
name: Megakaryocyte dysplasia
def: "The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei." [PMID:27127725]
synonym: "Dysmegakaryopoiesis" EXACT []
is_a: HP:0012143 ! Abnormal megakaryocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:09:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031690
name: Opportunistic infection
def: "An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system." [HPO:probinson]
comment: Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning.
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:11:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031691
name: Severe viral infection
def: "An unusually severe viral infection." [PMID:21960712]
comment: The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community.
is_a: HP:0032169 ! Severe infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:28:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031692
name: Severe cytomegalovirus infection
def: "An unusually severe infection by cytomegalovirus." [PMID:12588074]
comment: A typical mononucleosis syndrome consists of an acute febrile illness with an increase of 50 percent or more in the number of lymphocytes or monocytes, with at least 10 percent of the lymphocytes being atypical. Immunocompromised patients may experience more severe complications such as CMV retinitis.
is_a: HP:0031691 ! Severe viral infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:31:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031693
name: Severe Epstein Barr virus infection
def: "An unusually severe Epstein Barr virus (EBV) infection." []
is_a: HP:0031691 ! Severe viral infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:35:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031694
name: Severe adenovirus infection
def: "An unusually severe adenovirus infection." [PMID:24678403]
comment: Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses.
is_a: HP:0031691 ! Severe viral infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:36:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031695
name: Severe parainfluenza infection
def: "An unusually severe infection by a parainfluenza virus." []
is_a: HP:0031691 ! Severe viral infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:38:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031696
name: Disseminated viral infection
def: "A viral infection that fails to be contained by the immune sytem and spreads throughout the body." [PMID:28476145]
is_a: HP:0031690 ! Opportunistic infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:39:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031697
name: Disseminated infection with live vaccine virus
def: "A dissemination viral infection caused by a live attenuated vaccine virus." [PMID:25452596]
is_a: HP:0031696 ! Disseminated viral infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:41:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031698
name: Disseminated Bacillus Calmette-Guerin infection
def: "Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis." []
is_a: HP:0032250 ! Acinetobacter infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:43:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031699
name: Disseminated cryptosporidium infection
def: "Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body." []
is_a: HP:0020104 ! Unusual protozoan infection
is_a: HP:0031690 ! Opportunistic infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:46:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031700
name: Invasive parasitic infection
def: "A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host." []
is_a: HP:0020108 ! Unusual parasitic infection
is_a: HP:0031690 ! Opportunistic infection
property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:50:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031701
name: Anterior chamber inflammatory cells
def: "The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye." []
comment: The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma.
is_a: HP:0000593 ! Abnormal anterior chamber morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:14:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031702
name: Anterior chamber red blood cells
def: "The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye." []
comment: The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma.
synonym: "Anterior chamber RBCs" EXACT HP:0045077 []
is_a: HP:0000593 ! Abnormal anterior chamber morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:15:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031703
name: Abnormal ear morphology
def: "Any structural anomaly of the ear." []
xref: Fyler:4867
is_a: HP:0000598 ! Abnormality of the ear
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:20:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031704
name: Abnormal ear physiology
def: "Any functional anomaly of the ear." []
is_a: HP:0000598 ! Abnormality of the ear
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:20:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031705
name: Compensatory head posture
def: "A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem." []
comment: An abnormal position of the head can be due to an ocular or a non-ocular problem. We reserve this term for abnormal head positions that are compensatory for an ocular problem.
is_a: HP:0000496 ! Abnormality of eye movement
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:24:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031706
name: Compensatory chin depression
def: "A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement." []
is_a: HP:0031705 ! Compensatory head posture
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:26:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031707
name: Compensatory face turn to the right
def: "A tendency to turn the face to the right to compensate for a limitation of eye movement." []
comment: With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye.
is_a: HP:0031705 ! Compensatory head posture
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:27:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031708
name: Compensatory face turn to the left
def: "A tendency to turn the face to the left to compensate for a limitation of eye movement." []
comment: With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye.
is_a: HP:0031705 ! Compensatory head posture
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:30:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031709
name: Compensatory head tilt to the right shoulder
def: "A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement." []
comment: With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position.
is_a: HP:0031705 ! Compensatory head posture
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:31:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031710
name: Compensatory head tilt to the left shoulder
def: "A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement." []
comment: With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position.
is_a: HP:0031705 ! Compensatory head posture
property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:33:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031711
name: Asymmetric abdominal aortic aneurysm
def: "An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric)." [PMID:12751282]
comment: Abdominal aortic aneurysms (AAAs) in an advanced stage of development are truly asymmetric, due to the presence of tissue surrounding the abdominal aorta and to the vertebral column located posterior to this artery segment. This makes a large AAA less fusiform and to grow apart from the centerline of the lumen, accounting for a major anterior dilation and a more flat posterior surface.
is_a: HP:0005112 ! Abdominal aortic aneurysm
property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T11:19:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031713
name: Constant exotropia
def: "A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times." [ORCID:0000-0003-0986-4123]
is_a: HP:0000577 ! Exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:23:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031714
name: Distance exotropia
def: "A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittant." [ORCID:0000-0003-0986-4123]
is_a: HP:0000577 ! Exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:25:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031715
name: Near exotropia
def: "An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant)." [ORCID:0000-0003-0986-4123]
is_a: HP:0000577 ! Exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:30:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031716
name: Cyclic exotropia
def: "A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle." [ORCID:0000-0003-0986-4123]
is_a: HP:0000577 ! Exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:31:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031717
name: Alternating exotropia
def: "A type of exotropia in which either eye may be used for fixation." [ORCID:0000-0003-0986-4123]
synonym: "Alternating strabismus" EXACT []
is_a: HP:0000577 ! Exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:33:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031718
name: Consecutive exotropia
def: "Exotropia in an individual who has previously had esotropia or esophoria." [ORCID:0000-0003-0986-4123]
is_a: HP:0000577 ! Exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:36:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031719
name: True distance exotropia
def: "Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits." [ORCID:0000-0003-0986-4123]
is_a: HP:0031714 ! Distance exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:40:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031720
name: Simulated distance exotropia
def: "Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation." []
is_a: HP:0031714 ! Distance exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:40:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031721
name: Sensory exotropia
synonym: "A type of divergent strabismus (exotropia) that develops in a poorly seeing eye." EXACT [ORCID:0000-0003-0986-4123]
synonym: "Secondary exotropia" EXACT []
is_a: HP:0000577 ! Exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:03:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031722
name: Near esotropia
def: "An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved." [ORCID:0000-0003-0986-4123]
synonym: "Non-accomodative convergence excess esotropia" EXACT []
is_a: HP:0031760 ! Non-accomodative esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:06:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031723
name: Secondary esotropia
def: "Convergent squint which follows loss or impairment of vision." [ORCID:0000-0003-0986-4123]
synonym: "Sensory esotropia" EXACT []
is_a: HP:0000565 ! Esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:08:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031724
name: Microtropia
def: "A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs." [ORCID:0000-0003-0986-4123]
is_a: HP:0032012 ! Heterotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:16:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031725
name: Hypophoria
def: "A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards." [ORCID:0000-0003-0986-4123]
is_a: HP:0025588 ! Hypodeviation
is_a: HP:0032011 ! Heterophoria
property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:23:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031726
name: Incyclotropia
def: "A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other." [ORCID:0000-0003-0986-4123]
is_a: HP:0031776 ! Cyclotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-14T15:35:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031727
name: Excyclotropia
def: "A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other." [UManchster:psergouniotis]
is_a: HP:0031776 ! Cyclotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-14T15:39:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031728
name: Mild hypermetropia
def: "A form of hypermetropia with not more that +2.00 diopters." [ORCID:0000-0003-0986-4123]
synonym: "Mild hyperopia" EXACT []
is_a: HP:0000540 ! Hypermetropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:18:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031729
name: Moderate hypermetropia
def: "A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters." [ORCID:0000-0003-0986-4123]
synonym: "Moderate hyperopia" EXACT []
is_a: HP:0000540 ! Hypermetropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:20:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031730
name: Axial myopia
def: "A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye." [ORCID:0000-0003-0986-4123, PMID:24113300]
is_a: HP:0000545 ! Myopia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:22:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031731
name: Increased tear production
def: "Increased lacrimation owing to overproduction of tears." [ORCID:0000-0003-0986-4123]
is_a: HP:0009926 ! Epiphora
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:27:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031732
name: Increased basal tear production
def: "A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance." [ORCID:0000-0003-0986-4123]
is_a: HP:0031731 ! Increased tear production
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:29:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031733
name: Reflex tearing
def: "A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease)." [ORCID:0000-0003-0986-4123]
is_a: HP:0031731 ! Increased tear production
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:32:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031734
name: Lacrimal pump failure
def: "A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion." [ORCID:0000-0003-0986-4123]
is_a: HP:0009926 ! Epiphora
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:36:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031736
name: Involutional entropion
def: "An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle." [ORCID:0000-0003-0986-4123]
is_a: HP:0000621 ! Entropion
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:40:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031737
name: Cicatricial entropion
def: "Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid." [ORCID:0000-0003-0986-4123]
is_a: HP:0000621 ! Entropion
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:41:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031738
name: Mechanical entropion
def: "A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe." [ORCID:0000-0003-0986-4123]
is_a: HP:0000621 ! Entropion
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:42:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031739
name: Abnormal oblique muscle physiology
def: "A functional anomaly of the inferior or superior oblique muscle." [ORCID:0000-0003-0986-4123]
comment: The superior oblique muscle is responsible for incyclotorsion (inward turning) or the eye. The inferior oblique muscle is responsible for excyclotorsion (outward turning) or the eye.
is_a: HP:0025590 ! Abnormal extraocular muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:53:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031740
name: Abnormal horizontal rectus muscle physiology
def: "A functional anomaly of the medial rectus muscle or lateral rectus muscle." []
is_a: HP:0031755 ! Abnormal rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:56:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031741
name: Inferior oblique muscle underaction
def: "Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123]
is_a: HP:0025598 ! Inferior oblique muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:05:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031742
name: Inferior rectus muscle underaction
def: "Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123]
is_a: HP:0025601 ! Inferior rectus muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:07:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031743
name: Inferior rectus muscle overaction
def: "Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [ORCID:0000-0003-0986-4123]
is_a: HP:0025600 ! Abnormal inferior rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:09:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031744
name: Superior rectus muscle weakness
def: "Decreased strength of the superior rectus muscle." []
is_a: HP:0025603 ! Abnormal superior rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:10:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031745
name: Superior rectus muscle overaction
def: "Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [ORCID:0000-0003-0986-4123]
is_a: HP:0025603 ! Abnormal superior rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:11:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031746
name: Superior rectus muscle restriction
def: "Mechanical limitation of the range of movement of the superior rectus muscle." [ORCID:0000-0003-0986-4123]
comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively.
is_a: HP:0031744 ! Superior rectus muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:13:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031747
name: Superior rectus muscle underaction
def: "Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123]
is_a: HP:0031744 ! Superior rectus muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:16:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031748
name: Abnormal vertical rectus muscle physiology
def: "A functional anomaly of the superior or inferior rectus muscle." [ORCID:0000-0003-0986-4123]
is_a: HP:0031755 ! Abnormal rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:18:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031749
name: Abnormal lateral rectus muscle physiology
def: "A functional anomaly of the lateral rectus muscle." []
comment: The lateral rectus muscle is responsible for abduction of the globe (moving the eyeball away from the nose).
is_a: HP:0031740 ! Abnormal horizontal rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:19:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031750
name: Lateral rectus muscle weakness
def: "Decreased strength (ability to move) of the lateral rectus muscle." [ORCID:0000-0003-0986-4123]
is_a: HP:0031749 ! Abnormal lateral rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:21:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031751
name: Lateral rectus muscle underaction
def: "Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123]
is_a: HP:0031750 ! Lateral rectus muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:23:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031752
name: Lateral rectus muscle overaction
def: "Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." []
is_a: HP:0031749 ! Abnormal lateral rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:24:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031753
name: Medial rectus muscle weakness
def: "Decreased strength of the medial rectus muscle." [ORCID:0000-0003-0986-4123]
is_a: HP:0025606 ! Abnormal medial rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:25:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031754
name: Medial rectus muscle overaction
def: "Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." []
is_a: HP:0025606 ! Abnormal medial rectus muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:26:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031755
name: Abnormal rectus muscle physiology
def: "A functional anomaly of a vertical or horizontal rectus muscle." [ORCID:0000-0003-0986-4123]
is_a: HP:0025590 ! Abnormal extraocular muscle physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:27:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031756
name: Medial rectus muscle underaction
def: "Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123]
is_a: HP:0031753 ! Medial rectus muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:29:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031757
name: Medial rectus muscle restriction
def: "Mechanical limitation of the range of movement of the medial rectus muscle." [ORCID:0000-0003-0986-4123]
comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively.
is_a: HP:0031753 ! Medial rectus muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:30:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031758
name: Lateral rectus muscle restriction
def: "Mechanical limitation of the range of movement of the lateral rectus muscle." []
is_a: HP:0031750 ! Lateral rectus muscle weakness
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:33:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031759
name: Basic constant esotropia
def: "A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times)." [ORCID:0000-0003-0986-4123]
synonym: "Basic (constant) esotropia" EXACT []
is_a: HP:0031760 ! Non-accomodative esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:43:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031760
name: Non-accomodative esotropia
def: "A form of esotropia in which the angle of deviation is not affected by accommodative effort." [ORCID:0000-0003-0986-4123]
is_a: HP:0000565 ! Esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:46:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031761
name: Infantile constant esotropia
def: "Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction." [UManchester:psergouniotis]
synonym: "Infantile (constant) esotropia" EXACT []
is_a: HP:0031760 ! Non-accomodative esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031762
name: Distance esotropia
def: "An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging." [UManchester:psergouniotis]
synonym: "Divergence insufficiency" EXACT []
is_a: HP:0031760 ! Non-accomodative esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031763
name: Cyclic esotropia
def: "Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle." [ORCID:0000-0003-0986-4123]
is_a: HP:0031760 ! Non-accomodative esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031764
name: Fully accomodative esotropia
def: "Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction." [ORCID:0000-0003-0986-4123]
is_a: HP:0020046 ! Accommodative esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031765
name: Partially accomodative esotropia
def: "A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses." [ORCID:0000-0003-0986-4123]
synonym: "Constant esotropia with an accommodative component" EXACT []
synonym: "Constant esotropia with an accommodative element" EXACT []
is_a: HP:0020046 ! Accommodative esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031766
name: Convergence excess esotropia
def: "An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio." [ORCID:0000-0003-0986-4123]
is_a: HP:0020046 ! Accommodative esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031767
name: Consecutive esotropia
def: "Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent. and usually follows surgical overcorrection." [ORCID:0000-0003-0986-4123]
is_a: HP:0000565 ! Esotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031768
name: Parafoveal fixation
def: "Fixation of an object in the area adjacent to the fovea." [ORCID:0000-0003-0986-4123]
is_a: HP:0025549 ! Eccentric visual fixation
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:54:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031769
name: Peripheral fixation
def: "Fixation of an object in a peripheral area of the retina." [ORCID:0000-0003-0986-4123]
is_a: HP:0025549 ! Eccentric visual fixation
property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:55:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031770
name: Epicanthus palpebralis
def: "A type of epicanthus in which a medial vertical fold is present between upper and lower lids." [ORCID:0000-0003-0986-4123]
is_a: HP:0000286 ! Epicanthus
property_value: http://purl.org/dc/elements/1.1/date 2018-01-25T11:23:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031771
name: Epicanthus tarsalis
def: "A type of epicanthus in which a primarily upper lid fold is present." [ORCID:0000-0003-0986-4123]
comment: Epicanthus tarsalis is a normal anatomic variant in the Asian population.
is_a: HP:0000286 ! Epicanthus
property_value: http://purl.org/dc/elements/1.1/date 2018-01-25T11:24:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031772
name: Abnormal posterior circulating artery morphology
def: "Any structural anomaly of the posterior circulating artery (PCOM)." []
comment: The posterior circulating artery (PCOM) forms the posterior portion of the circle of Willis, connecting the interior carotid artery (proximal to its bifurcation into the anterior cerebral artery and the middle cerebral artery) with the posterior cerebral artery.
is_a: HP:0012518 ! Abnormal circle of Willis morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:25:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031773
name: Posterior communicating artery aneurysm
def: "A widening (ballooning) localized in the wall of the posterior communicating artery." []
comment: Posterior communicating artery aneurysm can leads to an acute palsy of the third cranial nerve with ipsilateral pupil dilation. Posterior communicating aneurysms can be classified into aneurysms that project laterally and below the tentorial incisura and cause oculomotor nerve compression, and aneurysms that project laterally above the tentorium that can manifest as temporal lobe hematoma if they rupture.
is_a: HP:0031772 ! Abnormal posterior circulating artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:27:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031774
name: Posterior communicating artery infundibulum
def: "A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery." [PMID:9848859]
comment: PCOM infundibula are often considered as normal anatomical variants devoid of pathogenic significance, but have been noted to progress to aneurysms in some cases.
is_a: HP:0031772 ! Abnormal posterior circulating artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:28:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031775
name: Neurogenic strabismus
def: "An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them." [ORCID:0000-0003-0986-4123]
synonym: "Paralytic strabismus" EXACT []
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:35:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031776
name: Cyclotropia
def: "A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia)." [ORCID:0000-0003-0986-4123]
is_a: HP:0025589 ! Cyclodeviation
is_a: HP:0032012 ! Heterotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:38:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031777
name: Cyclophoria
def: "A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation." [ORCID:0000-0003-0986-4123]
is_a: HP:0025589 ! Cyclodeviation
is_a: HP:0032011 ! Heterophoria
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:40:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031778
name: Incyclophoria
def: "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other." [ORCID:0000-0003-0986-4123]
is_a: HP:0031777 ! Cyclophoria
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:40:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031779
name: Excyclophoria
def: "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other." []
is_a: HP:0031777 ! Cyclophoria
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:47:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031780
name: Eosinophilic ascites
def: "A type of ascites in which there are large numbers of eosinophils in the ascitis fluid." [PMID:27721930]
is_a: HP:0001541 ! Ascites
is_a: HP:0032064 ! Gastrointestinal eosinophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T12:22:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031781
name: Microtropia with identity
def: "A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC." [ORCID:0000-0003-0986-4123, PMID:9602615]
is_a: HP:0031724 ! Microtropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T11:42:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031782
name: Microtropia without identity
def: "A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test." [ORCID:0000-0003-0986-4123, PMID:9602615]
is_a: HP:0031724 ! Microtropia
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T11:44:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031783
name: Absent coronary sinus
def: "A developmental defect in which the coronary sinus fails to form." [HPO:nvasilevsky, PMID:24551710]
xref: Fyler:2841
is_a: HP:0011642 ! Abnormal coronary sinus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:02:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031784
name: Abnormal ascending aorta morphology
def: "Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise." [MP:0009867]
xref: Fyler:1431
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:14:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031785
name: Abnormal eyelid movement
def: "An abnormality in voluntary or involuntary eyelid movements or their control." []
is_a: HP:0031879 ! Abnormal eyelid physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:51:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031786
name: Cogan lid twitch
def: "Transient eyelid retraction during refixation from down to straight ahead." [ORCID:0000-0003-0986-4123]
synonym: "Cogan eyelid twitch" EXACT []
synonym: "Eyelid twitch" EXACT []
synonym: "Lid twitch" EXACT []
is_a: HP:0031785 ! Abnormal eyelid movement
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:52:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031787
name: Oblique astigmatism
def: "Astigmatism in which the refractive power of the vertical meridian is the greatest." [ORCID:0000-0003-0986-4123]
is_a: HP:0000483 ! Astigmatism
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:31:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031788
name: With the rule astigmatism
def: "Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest)." [ORCID:0000-0003-0986-4123]
is_a: HP:0000483 ! Astigmatism
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:33:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031789
name: Against the rule astigmatism
def: "Astigmatism with more plus power on the horizontal meridian." []
is_a: HP:0000483 ! Astigmatism
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:36:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031790
name: Mixed astigmatism
def: "A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted)." [ORCID:0000-0003-0986-4123]
is_a: HP:0000483 ! Astigmatism
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:37:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031791
name: Lenticular astigmatism
def: "A type of astigmatism related to an irregular shape of the lens." []
is_a: HP:0000483 ! Astigmatism
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:40:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031792
name: Irregular astigmatism
def: "A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision." []
is_a: HP:0000483 ! Astigmatism
property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:51:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031793
name: Increased serum leptin
def: "An increased concentration of leptin in the blood." [RGD:sjwang]
synonym: "Elevated circulating leptin level" EXACT []
is_a: HP:0004361 ! Abnormality of circulating leptin level
property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:05:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031794
name: Decreased circulating glycerol level
def: "A decrease below the normal concentration of glycerol in the blood." []
is_a: HP:0031795 ! Abnormal circulating glycerol level
property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:13:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031795
name: Abnormal circulating glycerol level
def: "Any deviation from the normal concentration of glycerol in the blood." []
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:28:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031796
name: Recurrent
def: "Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present." []
synonym: "Intermittent" EXACT []
is_a: HP:0011008 ! Temporal pattern
property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:40:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031797
name: Clinical course
def: "The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual." []
synonym: "Natural history of disease" RELATED []
is_a: HP:0000001 ! All
property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:55:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031798
name: Elevated apolipoprotein B level
def: "Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100." [ORCID:0000-0001-5356-4174]
synonym: "Elevated ApoB level" EXACT []
is_a: HP:0025201 ! Abnormal apolipoprotein level
property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:02:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031799
name: Decreased apolipoprotein AI level
def: "Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease." [ORCID:0000-0001-5356-4174]
synonym: "Decreased apo-AI level" EXACT []
synonym: "Decreased apoA-I level" EXACT []
is_a: HP:0025201 ! Abnormal apolipoprotein level
property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:04:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031800
name: Elevated apolipoprotein A-II level
def: "An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism." [ORCID:0000-0001-5356-4174]
synonym: "Elevated Apo-AII level" EXACT []
synonym: "Elevated apoA-II level" EXACT []
synonym: "Elevated APOAII level" EXACT []
is_a: HP:0025201 ! Abnormal apolipoprotein level
property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:06:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031801
name: Vocal cord dysfunction
def: "Any functional anomaly of the vocal cord." []
is_a: HP:0001608 ! Abnormality of the voice
property_value: http://purl.org/dc/elements/1.1/date 2018-03-04T12:07:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031803
name: Fundus hemorrhage
def: "Bleeding within the fundus of the eye." []
is_a: HP:0001098 ! Abnormal fundus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:30:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031804
name: Premacular hemorrhage
is_a: HP:0025240 ! Preretinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:32:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031805
name: Intraretinal hemorrhage
def: "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina." [UManchester:psergouniotis]
comment: Although the fundoscopic appearence of an intraretinal hemorrhage can exibit significant variability it can typically be distinguished from a subretinal hemorrhage (occuring between the neurosensory retina and the RPE) or a sub-ILM hemorrhage (occuring between the internal limiting membrane and the neurosensory retina).
is_a: HP:0000573 ! Retinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:35:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031806
name: Abnormal basophil count
def: "Any deviation from the normal number of basophils per volume in the blood circulation." []
is_a: HP:0001912 ! Abnormal basophil morphology
is_a: HP:0032309 ! Abnormal granulocyte count
property_value: http://purl.org/dc/elements/1.1/date 2018-04-04T01:11:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031807
name: Increased basophil count
def: "An abnormally increased count of basophils per volume in the blood circulation." []
synonym: "Basophilia" EXACT []
is_a: HP:0031806 ! Abnormal basophil count
property_value: http://purl.org/dc/elements/1.1/date 2018-04-04T01:15:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031808
name: Decreased basophil count
def: "An abnormally reduced count of basophils per volume in the blood circulation." []
is_a: HP:0031806 ! Abnormal basophil count
property_value: http://purl.org/dc/elements/1.1/date 2018-04-04T01:16:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031809
name: Archibald's sign
def: "Shortening of the fourth and fifth metacarpals when the fist is clenched." [Gene42:pbuczkowicz, PMID:22075011, PMID:22629539]
comment: In 1959, Archibald, Finlay, and De Vito were the first to describe a sign that depended on the relative lengths of the lateral three metacarpals (the metacarpal finding). When a line is drawn tangentially to the circumference of the heads (distal ends) of the fourth and fifth metacarpals, the extension of this line normally passes distally to the head of the third metacarpal and does not intersect the third metacarpal (negative metacarpal finding). In some hands such a line is tangential also to the circumference of the head of the third metacarpal (borderline metacarpal finding). In others the line runs through the distal end of the third metacarpal (positive metacarpal finding).
synonym: "Archibald's metacarpal sign" EXACT []
synonym: "Knuckle dimple" EXACT layperson []
is_a: HP:0005916 ! Abnormal metacarpal morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T14:18:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031810
name: Anti-ganglioside antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides." [OHSU:jpgourdine, PMID:8027366]
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T14:42:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031811
name: Bilirubinuria
def: "Presence of conjugated bilirubin in the urine." [OHSU:jpgourdine]
comment: Bilirubinuria may lead to a dark yellow to orange color of the urine. Conjugated bilirubin is excreted in the urine and thus conjugated hyperbilirubinemia may lead to bilirubinuria.
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T14:54:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031812
name: Nitrituria
def: "Presence of nitrites in the urine." [OHSU:jpgourdine, PMID:27377945]
comment: Nitrituria may be diagnosed on the basis of a positive test result on a urine dipstick test. Nitrites are not found in normal urine. Some gram-positive and gram-negative bacteria metabolize nitrates in urine to nitrites, and a positive urine dipstick test for nitrites most commonly suggests a bacterial urinary tract infection.
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T15:03:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031813
name: Colonic eosinophilia
def: "An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon." [PMID:21922029]
synonym: "Eosinophilic infiltration in the colon" EXACT []
is_a: HP:0002037 ! Inflammation of the large intestine
is_a: HP:0032064 ! Gastrointestinal eosinophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T21:07:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031814
name: Palilalia
def: "Repetition of one's own words or phrases." [PMID:27527544]
is_a: HP:0002167 ! Neurological speech impairment
property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T22:45:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031815
name: Abnormal oral physiology
def: "A functional anomaly of the mouth (which is also known as the oral cavity)." []
comment: The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing.
is_a: HP:0000153 ! Abnormality of the mouth
property_value: http://purl.org/dc/elements/1.1/date 2018-04-29T14:50:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031816
name: Abnormal oral morphology
def: "Any structural anomaly of the mouth, which is also known as the oral cavity." []
is_a: HP:0000153 ! Abnormality of the mouth
property_value: http://purl.org/dc/elements/1.1/date 2018-04-29T14:55:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031817
name: Decreased circulating parathyroid hormone level
def: "An abnormally decreased concentration of parathyroid hormone." [PMID:1302009, RGD:gthayman]
synonym: "Decreased circulating PTH level" EXACT []
synonym: "Decreased serum parathyroid hormone" EXACT []
synonym: "Decreased serum parathyroid hormone level" EXACT []
synonym: "Decreased serum PTH" EXACT []
is_a: HP:0100530 ! Abnormal calcium-phosphate regulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T01:55:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031818
name: Abnormal waist to hip ratio
def: "A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement." []
is_a: HP:0004323 ! Abnormality of body weight
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:06:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031819
name: Increased waist to hip ratio
def: "Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement." [ORCID:0000-0001-5356-4174, PMID:12872269]
synonym: "Increased waist-hip ratio" EXACT []
synonym: "Increased waist-to-hip ratio" EXACT []
synonym: "Increased WHR" EXACT []
is_a: HP:0031818 ! Abnormal waist to hip ratio
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:08:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031820
name: Decreased waist to hip ratio
def: "Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement." [PMID:12872269, RGD:gthayman]
synonym: "Decreased waist-hip ratio" EXACT []
synonym: "Decreased waist-to-hip ratio" EXACT []
synonym: "Decreased WHR" EXACT []
is_a: HP:0031818 ! Abnormal waist to hip ratio
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:11:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031821
name: Abnormal hypoxanthine-guanine phosphoribosyltransferase level
def: "Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate." [RGD:sjwang]
synonym: "Abnormal 6-hydroxypurine phosphoribosyltransferase level" EXACT []
synonym: "Abnormal GMP pyrophosphorylase level" EXACT []
synonym: "Abnormal GPRT level" EXACT []
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:20:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031822
name: Elevated hypoxanthine-guanine phosphoribosyltransferase level
def: "Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate." [RGD:sjwang]
synonym: "Elevated 6-hydroxypurine phosphoribosyltransferase level" EXACT []
synonym: "Elevated 6-mercaptopurine phosphoribosyltransferase level" EXACT []
synonym: "Elevated GMP pyrophosphorylase level" EXACT []
is_a: HP:0031821 ! Abnormal hypoxanthine-guanine phosphoribosyltransferase level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:22:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031823
name: Reduced hypoxanthine-guanine phosphoribosyltransferase level
def: "Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate." [RGD:sjwang]
synonym: "Reduced 6-hydroxypurine phosphoribosyltransferase level" EXACT []
synonym: "Reduced 6-mercaptopurine phosphoribosyltransferase level" EXACT []
synonym: "Reduced GMP pyrophosphorylase level" EXACT []
is_a: HP:0031821 ! Abnormal hypoxanthine-guanine phosphoribosyltransferase level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:23:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031824
name: Hepatic mastocytosis
def: "Liver mast cell infiltration." [HPO:probinson, PMID:25009756]
is_a: HP:0100495 ! Mastocytosis
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:32:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031825
name: Freezing of gait
def: "Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk." [PMID:23625316, PMID:27770207]
comment: Freezing of gait is one of the most debilitating motor symptoms in patients with Parkinson's disease as it may lead to falls and a loss of independence. Patients may report that their feet are stuck to the floor as if held by magnets when trying to walk, resulting in a temporary blockage of the motor function involved in ambulation.
synonym: "Freezing gait" EXACT []
is_a: HP:0001288 ! Gait disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T00:28:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031826
name: Abnormal reflex
def: "Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur)." []
is_a: HP:0100022 ! Abnormality of movement
property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:05:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031827
name: Absent abdominal reflex
def: "Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus." [PMID:12531937, PMID:24785227]
comment: A normal abdominal reflex can be observed as a brisk contraction of the umbilicus toward the quadrant that is stimulated. An absent abdominal reflex can point to neurological disease but may also be absent due to other causes such as obesity.
is_a: HP:0031828 ! Abnormal superficial reflex
property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:07:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031828
name: Abnormal superficial reflex
def: "An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons." []
is_a: HP:0031826 ! Abnormal reflex
property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:09:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031829
name: Absent cremaster reflex
def: "Lack of response to scratching of the skin of the medial thigh, which inmales normally elicits a brisk, short eveletion of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex." [PMID:12891505]
synonym: "Absent cremasteric reflex" EXACT []
is_a: HP:0031828 ! Abnormal superficial reflex
property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:11:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031830
name: Pinguecula
def: "A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea." [PMID:24311926]
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T01:54:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031831
name: Decreased serum zinc
def: "A reduced concentration of zinc in the blood." [PMID:16518702, RGD:gthayman]
is_a: HP:0008277 ! Abnormal blood zinc concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T02:05:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031832
name: Hypermetric downward saccades
def: "Overshoot of downward saccadic eye movements." []
is_a: HP:0007338 ! Hypermetric saccades
property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T02:38:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031833
name: Hypometric upward saccades
def: "Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." []
is_a: HP:0000571 ! Hypometric saccades
property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T02:39:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031834
name: Aortopulmonary collateral arteries
def: "Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus." [MP:0010635, PMID:26467877]
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T03:10:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031835
name: Abnormal superoxide dismutase activity
def: "An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide." [PMID:25276767, RGD:gthayman]
synonym: "Abnormal superoxide:superoxide oxidoreductase activity" EXACT []
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T12:59:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031836
name: Increased superoxide dismutase activity
def: "Increased catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide." [RGD:gthayman]
synonym: "Increased superoxide:superoxide oxidoreductase activity" EXACT []
is_a: HP:0031835 ! Abnormal superoxide dismutase activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T13:01:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031837
name: Decreased superoxide dismutase activity
def: "Decreased catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide." [PMID:25276767, RGD:gthayman]
synonym: "Decreased superoxide:superoxide oxidoreductase activity" EXACT []
is_a: HP:0031835 ! Abnormal superoxide dismutase activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T13:01:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031838
name: Presence of xenobiotic
def: "Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids." []
synonym: "The presence of a xenobiotic in body tissues or fluids can be the result of ingestion of or exposure to substances such as drugs, environmental pollutants, food additives, hydrocarbons, and pesticides." EXACT []
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T13:07:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031840
name: Urine xenobiotic
def: "The presence of a xenobiotic in urine." []
is_a: HP:0031838 ! Presence of xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T14:15:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031841
name: Positive urine methadone test
def: "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine." []
comment: Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency.
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T14:18:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031842
name: Lymphangiectasis
def: "Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma." [MP:0004038]
synonym: "Lymphangiectasia" EXACT []
is_a: HP:0100766 ! Abnormal lymphatic vessel morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T14:44:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031843
name: Bradyphrenia
def: "Abnormal slowness of thought processes." [PMID:25850732]
synonym: "Slowness of thought" EXACT layperson []
is_a: HP:0100543 ! Cognitive impairment
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:04:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031844
name: Euphoria
def: "A sense of intense joy or happiness that is beyond what would be expected under the given circumstances." [PMID:25834762]
is_a: HP:0100851 ! Abnormal emotion/affect behavior
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:29:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031845
name: Abnormal libido
def: "Any deviation from the normal sexual drive or desire for sexual activity." []
is_a: HP:0000080 ! Abnormality of reproductive system physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:32:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031846
name: Femur fracture
def: "A break or crush injury of the thigh bone (femur)." []
synonym: "Femoral fracture" EXACT []
xref: MeSH:D005264
is_a: HP:0002823 ! Abnormality of femur morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:37:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031847
name: Difficulty walking backward
def: "Reduced ability to walk (ambulate) in a backwards direction." [HPO:probinson]
comment: We walk backward on a daily basis, such as when backing away from the kitchen sink or stepping back from a curb as a swiftly moving bus passes. This task may be particularly difficult for some individuals who can fall as a result of moving or being perturbed in the backward direction. Some individuals with Parkinson disease exhibit this feature.
is_a: HP:0001288 ! Gait disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:41:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031848
name: Cock-walk gait
def: "An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor." [PMID:24746291]
is_a: HP:0031954 ! Dystonic gait
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:45:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031849
name: Sleep-wake inversion
def: "A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night." []
is_a: HP:0006979 ! Sleep-wake cycle disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:51:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031850
name: Abnormal hematocrit
def: "Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood." []
comment: Note that the hematocrit is one of the measurements that can contribution to the diagnosis of anemia or polycythemia, which is coded separately.
synonym: "Abnormal Hct" EXACT HP:0045077 []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:58:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031851
name: Reduced hematocrit
def: "A reduction below the normal ratio of the volume of red blood cells to the total volume of blood." []
synonym: "Low hematocrit" EXACT []
synonym: "Reduced Hct" EXACT HP:0045077 []
is_a: HP:0031850 ! Abnormal hematocrit
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:59:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031853
name: Isomerism
def: "Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other." [PMID:21731561]
comment: The word isomerism is also derived from the Greek: iso-meaning equal and meros-meaning part. Isomerism refers to structures that are themselves mirror-imaged. When used in the area of the congenitally malformed heart, the term isomerism has become the conventional description for the situation in which morphologically right structures or morphologically left structures are found on both sides of the body in the same individual.
is_a: HP:0030853 ! Heterotaxy
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:12:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031854
name: Left Isomerism
def: "A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures." [PMID:21731561]
synonym: "Left-sided isomerism" EXACT []
is_a: HP:0031853 ! Isomerism
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:13:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031855
name: Right isomerism
def: "A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures." [PMID:21731561]
synonym: "Right-sided isomerism" EXACT []
is_a: HP:0031853 ! Isomerism
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:15:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031856
name: Hobby horse gait
def: "An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but in affected individuals are able to\nimprove their dystonic gait by walking backward." [PMID:21956287]
is_a: HP:0031954 ! Dystonic gait
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:27:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031857
name: Ineffective esophageal peristalsis
def: "Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus." []
is_a: HP:0100771 ! Hypoperistalsis
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:42:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031858
name: Esophageal furrows
def: "Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus)." [PMID:25368745]
comment: Esophageal furrows may occur in inflammatory disorders of the esophagus such as eosinophilic esophagitis.
is_a: HP:0002031 ! Abnormal esophagus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:45:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031860
name: Abnormal heart rate variability
def: "Any abnormality in the variability of the time interval between successive heartbeats." [PMID:8598068]
is_a: HP:0011675 ! Arrhythmia
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:02:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031861
name: Decreased heart rate variability
def: "Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle." [ORCID:0000-0001-5356-4174, PMID:8598068]
synonym: "Reduced heart rate variability" EXACT []
is_a: HP:0031860 ! Abnormal heart rate variability
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:03:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031862
name: Increased heart rate variability
def: "Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle." [ORCID:0000-0001-5356-4174, PMID:8598068]
is_a: HP:0031860 ! Abnormal heart rate variability
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:05:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031863
name: Bloodstream infectious agent
def: "The presence of an infectious agent in the blood circulation." []
comment: Infectious agents can be classified into five groups: viruses, bacteria, fungi, protozoa, and helminths (worms).
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:12:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031864
name: Bacteremia
def: "Presence of viable bacteria in the blood." []
is_a: HP:0031863 ! Bloodstream infectious agent
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:13:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031865
name: Abnormal liver physiology
def: "Any functional anomaly of the liver." [HPO:probinson]
synonym: "Abnormal hepatic physiology" EXACT []
is_a: HP:0001392 ! Abnormality of the liver
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:20:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031866
name: Clasp-knife sign
def: "Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxtion (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife." [HPO:probinson]
is_a: HP:0001257 ! Spasticity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:28:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031867
name: Neck hypertonia
def: "Increased passive stiffness or tightness of the neck musculature." []
is_a: HP:0001276 ! Hypertonia
property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:31:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031868
name: Optic ataxia
def: "Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected." [ORDIC:0000-0002-6601-2165, PMID:24607223]
comment: Optic ataxia is related to a cortical neurologic deficit that is a result of a lesion to the superior parietal lobule (SPL) and areas around the intraparietal sulcus (IPS). The phenomenon is thought not to be an apraxia (a disorder in executing learned behaviors), but rather a lack of coordination between visual input and motor outputs, and thus the term ataxia, Greek for Lack of Order.
is_a: HP:0011446 ! Abnormality of higher mental function
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:12:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031869
name: Recurrent joint dislocation
def: "Dislocation of a given joint repeated times." []
is_a: HP:0001373 ! Joint dislocation
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:19:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031870
name: Phosphohydroxylysinuria
def: "An elevated concentration of phosphohydroxylysine in the urine." [HPO:probinson, PMID:23242558]
comment: There are no clinical manifestations associated with phosphohydroxylysinuria other than the urinary metabolites.
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:30:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031871
name: Abnormal Langerhans cell morphology
def: "Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles iin immune surveillance and homeostasis." [PMID:29449841]
is_a: HP:0025461 ! Abnormal cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:33:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031872
name: Absent Birbeck granules in Langerhans cells
def: "Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy." [HPO:probinson, PMID:15816828]
is_a: HP:0031871 ! Abnormal Langerhans cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:41:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031873
name: Early chronotype
def: "A tendency towards rising very early in the morning and going to bed early in the evening." []
synonym: "Early sleep onset" RELATED []
is_a: HP:0006979 ! Sleep-wake cycle disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:57:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031874
name: Late chronotype
def: "A tendency towards rising very late in the morning and going to bed late at night." []
synonym: "Late sleep onset" RELATED []
is_a: HP:0006979 ! Sleep-wake cycle disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:03:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031875
name: Abnormal hepcidin level
def: "Any deviation from the normal concentration of hepcidin in the blood circulation." [HPO:probinson, PMID:16450011]
comment: Hepcidin, a 25-amino acid peptide exclusively synthesized by the liver, is the main iron regulatory hormone.
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:11:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031876
name: Decreased hepcidin level
def: "An abnormally reduced concentration of hepcidin in the blood circulation." [HPO:probinson, PMID:16450011]
is_a: HP:0031875 ! Abnormal hepcidin level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:13:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031877
name: Elevated hepcidin level
def: "An abnormally increased concentration of hepcidin in the blood circulation." [HPO:probinson, PMID:16450011]
is_a: HP:0031875 ! Abnormal hepcidin level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:13:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031878
name: Acromicria
def: "Small hands and feet in proportion to the rest of the body." [HPO:probinson, PMID:22043168]
is_a: HP:0002813 ! Abnormality of limb bone morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:37:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031879
name: Abnormal eyelid physiology
def: "Any functional abnormality of the eyelid." []
is_a: HP:0032040 ! Abnormal ocular adnexa physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T15:39:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031880
name: Eyelid laxity
def: "Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test." [UManchester:psergouniotis]
synonym: "Lid laxity" EXACT []
is_a: HP:0031879 ! Abnormal eyelid physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T15:42:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031881
name: Decreased tear drainage
def: "A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct." [UManchester:psergouniotis]
is_a: HP:0009926 ! Epiphora
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T15:54:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031882
name: Agyria
def: "A congenital abnormality of the cerebral hemisphere chacterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm." [COST:neuromig]
synonym: "Agyria diffuse" EXACT []
is_a: HP:0001339 ! Lissencephaly
property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T16:11:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031883
name: Increased proinsulin:insulin ratio
def: "An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation." [RGD:gthayman]
is_a: HP:0011014 ! Abnormal glucose homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-05-07T10:24:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031884
name: Abnormal CSF glucose level
def: "A deviation from normal concentration of glucose content in the cerebrospinal fluid." []
is_a: HP:0025454 ! Abnormal CSF metabolite level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T13:54:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031885
name: Hyperglycorrhachia
def: "Abnormally high glucose concentration in the cerebrospinal fluid." [HPO:nvasilevsky]
is_a: HP:0031884 ! Abnormal CSF glucose level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T13:55:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031886
name: Abnormal LDL cholesterol concentration
def: "Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation." [HPO:probinson]
synonym: "Abnormal LDL-C concentration" EXACT HP:0045077 []
synonym: "Abnormal LDL-C level" EXACT HP:0045077 []
synonym: "Abnormal LDLc concentration" EXACT HP:0045077 []
is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T14:27:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031887
name: Abnormal chylomicron concentration
def: "Any deviation from the normal circulating concentration of chylomicrons." []
comment: Chylomicrons are one of the major classes of lipoproteins. Like VLDL, they function to transport triacylglycerol (TAG) in the circulation. Chylomicrons are synthesized in the small intestine by enterocytes from absorbed lipids. Endothelial cells in the circulation can process TAG from chylomicrons by means of the cell-surface enzyme lipoprotein lipase, which digests the TAG to fatty acids and monoglycerides.
is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T14:32:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031888
name: Abnormal HDL cholesterol concentration
def: "Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood." []
comment: HDL returns excess cholesterol from cells to the liver via various pathways.
is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T14:42:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031889
name: Abnormal VLDL cholesterol concentration
def: "Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood." []
comment: VLDL is synthesized in the liver and is involved in the transport of triacylglycerol (TAG) to the body.
is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T14:47:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031890
name: Increased urine urobilinogen
def: "An elevated concentration of urobilinogen in the urine." []
comment: Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease.
is_a: HP:0032472 ! Abnormal urine urobilinogen level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T20:23:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031891
name: Decreased eosinophil count
def: "Abnormal reduction in the count of eosinophils in the blood per volume." [HPO:probinson]
is_a: HP:0020064 ! Abnormal eosinophil count
property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T20:35:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031898
name: Rouleaux formation
def: "Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells." [HPO:probinson, PMID:16739263]
synonym: "Increased rouleaux formation" EXACT []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:09:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031899
name: Abnormal coagulation factor V activity
def: "Any deviation from the activity of coagulation factor V." []
comment: Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.
synonym: "Abnormal factor V activity" EXACT []
is_a: HP:0010990 ! Abnormality of the common coagulation pathway
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:11:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031900
name: Abnormal serum mast cell beta-tryptase concentration
def: "Any deviation from the normal circulating concentration of mast cell beta-tryptase concentration." [HPO:probinson, PMID:15200544]
comment: Mast cells, which are granulocytes found in peripheral tissue, play a central role in inflammatory and immediate allergic reactions. Beta-Tryptase is a neutral serine protease and is the most abundant mediator stored in mast cell granules. The release of beta-tryptase from the secretory granules is a characteristic feature of mast cell degranulation. Mast cell beta-tryptase has an important role in inflammation and serves as a marker of mast cell activation. Beta-Tryptase activates the protease activated receptor type 2. It is involved in airway homeostasis, vascular relaxation and contraction, gastrointestinal smooth muscle activity and intestinal transport, and coagulation. Serum mast cell beta-tryptase concentration is increased in anaphylaxis and in other allergic conditions.
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:14:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031901
name: Increased serum mast cell beta-tryptase concentration
def: "An abnormally elevated circulating concentration of mast cell beta-tryptase concentration." []
is_a: HP:0031900 ! Abnormal serum mast cell beta-tryptase concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:17:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031902
name: Decreased serum mast cell beta-tryptase concentration
def: "An abnormally reduced circulating concentration of mast cell beta-tryptase concentration." []
is_a: HP:0031900 ! Abnormal serum mast cell beta-tryptase concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:17:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031903
name: Abnormal circulating selenium concentration
def: "Any deviation from the normal circulating concentration of selenium." [HPO:probinson, PMID:26045617, PMID:29494512]
comment: Selenium (Se) is an essential micronutrient that exists in the form of selenocysteine (Sec), the 21st amino acid, upon its incorporation into selenoproteins via the tRNA[Sec] encoded by Trsp. Dietary intake of the micronutrient selenium is essential for normal immune functions. Selenium is cotranslationally incorporated as the 21st amino acid, selenocysteine, into selenoproteins that function to modulate pathways involved in inflammation.
synonym: "Abnormal serum selenium concentration" EXACT []
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:19:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031904
name: Abnormal total hemolytic complement activity
def: "Any deviation from the normal total hemolytic complement activity in the circulation." []
comment: The total hemolytic complement test, also known as the CH50, is a screening test for total complement activity.
synonym: "Abnormal CH50" EXACT []
is_a: HP:0005339 ! Abnormality of complement system
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:22:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031905
name: Increased total hemolytic complement activity
def: "An abnormally elevated total hemolytic complement activity in the circulation." [HPO:probinson]
is_a: HP:0031904 ! Abnormal total hemolytic complement activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:27:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031906
name: Decreased total hemolytic complement activity
def: "An abnormally reduced total hemolytic complement activity in the circulation." [HPO:probinson]
is_a: HP:0031904 ! Abnormal total hemolytic complement activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:27:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031907
name: Anti-mitochondrial M2 antibody positivity
def: "The presence of M2 nti-mitochondrial antibody (immunoglobulins) in the serum." []
comment: Anti-mitochondrial antibody (AMA) can be tested via indirect immunofluorescence. The auto-antigens of AMA have been identified as pyruvate dehydrogenase complex-E2 (PDC-E2), branched-chain 2-oxo acid dehydrogenase complex and 2-oxoglutaric acid dehydrogenase complex. The antibody to these antigens is known as AMA-M2. AMA-M2 is more specific to PBC than AMA, and the determination of its titer is feasible
synonym: "AMA-M2 positive" EXACT HP:0045077 []
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:34:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031908
name: Micrographia
def: "Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task." [HPO:probinson, PMID:29403348]
is_a: HP:0011446 ! Abnormality of higher mental function
property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:50:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031909
name: Unicornuate uterus
def: "A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn." [PMID:28811816]
comment: A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of one of the paired Mullerian ducts. The incidence of rudimentary-horn pregnancy is estimated to be one in 76,000 pregnancies. Life-threateningly heavy bleeding and abortion are the anticipated outcomes of rudimentary horn pregnancies. According to the literature, the newborn survival rate is between 0-13 percent in pregnancies in the rudimentary horn, with only one third of such gestations reaching term or beyond. Slightly more than half of the pregnancies ended with a rupture of the pregnant uterine horn.
is_a: HP:0031105 ! Abnormal uterus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T13:42:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031910
name: Abnormal cranial nerve physiology
def: "A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." []
is_a: HP:0012638 ! Abnormality of nervous system physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T13:49:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031911
name: Abnormal fifth cranial nerve physiology
is_a: HP:0031910 ! Abnormal cranial nerve physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T13:55:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031912
name: Trigeminal anesthesia
def: "Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth." [https://orcid.org/0000-0002-3194-8625, PMID:10653422, PMID:2256843]
synonym: "Trigeminal anaesthesia" EXACT HP:0045076 []
is_a: HP:0031911 ! Abnormal fifth cranial nerve physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T13:56:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031913
name: Rhombencephalosynapsis
def: "Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis." [https://orcid.org/0000-0002-3194-8625, PMID:22451504]
comment: Rhombencephalosynapsis occurs in isolation or in combination with other CNS and extra-CNS malformations. The most common congenital anomaly syndrome associated with RES is Gomez-Lopez-Hernandez syndrome.
is_a: HP:0001317 ! Abnormal cerebellum morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T17:46:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031914
name: Fluctuating
def: "Varying irregularly over time in severity, amount, or amplitude." []
is_a: HP:0011008 ! Temporal pattern
property_value: http://purl.org/dc/elements/1.1/date 2018-07-01T21:29:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031915
name: Stable
def: "This modifer can be applied to a phenotypic feature that does not vary in severity or amount over time." []
is_a: HP:0011008 ! Temporal pattern
property_value: http://purl.org/dc/elements/1.1/date 2018-07-01T21:31:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031917
name: Digital ulcer
def: "On open sore on the surface of the skin of a finger or toe." []
comment: Digital ulcers are a common manifestation of systemic sclerosis, and can be responsible for substantial pain and mobidity.
is_a: HP:0200042 ! Skin ulcer
property_value: http://purl.org/dc/elements/1.1/date 2018-07-02T00:51:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031918
name: Ovarian sex cord-stromal tumor
def: "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts." [NCIT:C4862, PMID:27858568]
is_a: HP:0100615 ! Ovarian neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2018-07-02T10:46:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031919
name: Juvenile type ovarian granulosa cell tumor
def: "Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type." [NCIT:C7289, PMID:25788847]
synonym: "Ovarian juvenile granulosa cell tumor" EXACT []
synonym: "Ovarian juvenile granulosa cell tumour" EXACT HP:0045076 []
is_a: HP:0031918 ! Ovarian sex cord-stromal tumor
property_value: http://purl.org/dc/elements/1.1/date 2018-07-02T10:52:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031920
name: Malignant ovarian granulosa cell tumor
def: "An aggressive granulosa cell tumor that arises from the ovary." [NCIT:C8403]
is_a: HP:0100615 ! Ovarian neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2018-07-02T11:18:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031921
name: Gastrocnemius myalgia
def: "Pain of the gastrocnemius muscle." [PMID:29491286]
comment: The gastrocnemius is located together with the soleus muscle in the calf of the leg. Gastrocnemius myalgia refers to pain and tenderness in this muscle with a course of weeks or months or more. Gastrocnemius myalgia is a rarely observed initial manifestion of Crohn disease.
synonym: "Calf muscle pain" EXACT layperson []
synonym: "Calf myalgia" EXACT []
is_a: HP:0003326 ! Myalgia
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T11:57:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031922
name: Renal artery duplication
def: "The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body." [PMID:15378279, PMID:21475502]
comment: Double renal arteries with aortic origin is a benign condition representing the persistence of the embryonic vessels, the lateral branches of the mesonephros, within the renal ascent. The embryonic urogenital ridge from which the kidneys develop is supplied by several paired arteries: the rete arteriosum urogenitale. The later developing metanephric kidneys retain only a single pair of mesonephric arteries, however a variable number may persist.
synonym: "Accessory renal artery" EXACT []
synonym: "Double renal artery" EXACT []
is_a: HP:0008776 ! Abnormal renal artery morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T12:09:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031923
name: Hematocolpos
def: "Accumulation of blood in the vagina usually due to vaginal obstruction." [PMID:29479403]
synonym: "Haematocolpos" EXACT HP:0045076 []
is_a: HP:0000142 ! Abnormal vagina morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T12:19:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031924
name: Rope sign
def: "The presence of linear erythematous palpable cords, often on the lateral trunk." [PMID:16935918, PMID:26131871]
comment: Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibres
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T12:31:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031925
name: Rosette
def: "A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub." [PMID:16551982]
comment: Rosettes are named for the flower-like architectural ornament, this pattern resembles the rose windows found in many gothic cathedrals. Rosettes may be considered primary or secondary manifestations of tumor architecture. Primary rosettes form as a characteristic growth pattern of a given tumor type, whereas secondary rosettes result from the influence of external factors on tumor growth.
is_a: HP:0025461 ! Abnormal cell morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:22:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031926
name: Homer Wright rosette
def: "A type of rosette in which the central lumen or hub is filled with fiber-like processes." [PMID:16551982]
comment: The delicate fibrillary material found within the central lumen of the Homer Wright rosette is composed of neuropil, which contains primitive neuronal processes or neurites. The typical Homer Wright rosette with its central lumen or hub filled with fiber-like processes can also be found in medulloblastomas and histologically similar tumors occurring outside of the cerebellum, designated PNETs.
is_a: HP:0031925 ! Rosette
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:24:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031927
name: Flexner-Wintersteiner rosette
def: "The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil." [PMID:16551982]
comment: A type of rosette in which a halo of cells surrounds a largely empty central hub. Small cytoplasmic extensions from the cells project into the lumen.
is_a: HP:0031925 ! Rosette
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:26:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031928
name: True ependymal rosette
def: "A type of rosette in which a halo of cells surrounds an empty lumen." [PMID:16551982]
comment: In contrast to the Homer Wright and the Flexner-Wintersteiner rosettes, the empty-appearing lumen of the true ependymal rosette resembles a tubule lumen and contains no fiber-rich neuropil or central cytoplasmic projections. These tubule-like structures, as well as more elongated versions known as ependymal canals, may represent an attempt by the tumor cells to recapitulate the formation of ventricles with ependymal linings.
is_a: HP:0031925 ! Rosette
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:28:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031929
name: Perivascular pseudorosette
def: "A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel." [PMID:16551982]
comment: The modifier pseudo differentiates this pattern from the Homer Wright and Flexner-Wintersteiner rosettes, perhaps because the central structure is not actually formed by the tumor itself, but instead represents a native, non-neoplastic element. Also, some early investigators argued about the definition of a central lumen, choosing pseudo to indicate that the hub was not a true lumen but contained structures. Nevertheless, this pattern remains extremely diagnostically useful and the modifier unnecessarily leads to confusion. Perivascular pseudorosettes are encountered in most ependymomas regardless of grade or variant.
is_a: HP:0031925 ! Rosette
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:30:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031930
name: Neurocytic rosette
def: "A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular." [PMID:16551982]
comment: Pineocytomas and central neurocytomas represent well-differentiated neuronal neoplasms with small rounded nuclei, analogous to those normally encountered in the internal granular layer of the cerebellum or the dentate fascia of the hippocampus. Although they likely originate from slightly different precursors, the histologic features of these two tumors are virtually identical, including their tendency to form neuropil-rich rosettes, referred to as pineocytomatous rosettes in pineocytomas and neurocytic rosettes in central neurocytoma
synonym: "Pineocytomatous rosette" EXACT []
is_a: HP:0031925 ! Rosette
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:32:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031931
name: Ocular flutter
def: "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation." [PMID:17314191, UManchester:psergouniotis]
is_a: HP:0012547 ! Abnormal involuntary eye movements
is_a: HP:0032104 ! Saccadic oscillation
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:01:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031932
name: Aorto-left ventricular tunnel
def: "Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity." [PMID:26085759]
comment: ALVT is extremely rare with incidence as low as 0.001% of all congenital heart diseases. Most of the patients develop symptoms of heart failure during the first year of life. The onset, severity and progression of heart failure vary and ranges from in-utero fetal death to asymptomatic adulthood.
synonym: "Left ventricle to aorta tunnel" EXACT []
is_a: HP:0011627 ! Aorto-ventricular tunnel
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:38:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031933
name: Aorto-right ventricular tunnel
def: "The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle." [PMID:27525240]
synonym: "Right ventricle to aorta tunnel" EXACT []
is_a: HP:0011627 ! Aorto-ventricular tunnel
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:40:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031934
name: Abnormal descending aorta morphology
def: "A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen." []
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:44:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031935
name: Ascending aorta hypoplasia
def: "Significant luminal narrowing of a long segment of or the entire ascending aorta." [PMID:13938144]
comment: Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta.
is_a: HP:0031784 ! Abnormal ascending aorta morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:46:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031936
name: Delayed ability to walk
def: "A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months." []
synonym: "Delayed walking" EXACT []
is_a: HP:0002194 ! Delayed gross motor development
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T21:00:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031937
name: Tachylalia
def: "Extreme rapidity of speech." []
synonym: "Tachylogia" EXACT []
is_a: HP:0002167 ! Neurological speech impairment
property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T21:09:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031938
name: Abnormal conus terminalis morphology
def: "Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usaully between the L1 and L2 lumbar vertebrae)." []
comment: The tapering end of the conus terminalis continues as the filum terminale.
synonym: "Abnormal conus medullaris morphology" EXACT []
is_a: HP:0002143 ! Abnormality of the spinal cord
property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:09:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031939
name: Conus terminalis arteriovenous malformation
comment: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries with location in the conus terminalis. {xref="PMID:27485904"}
is_a: HP:0031938 ! Abnormal conus terminalis morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:14:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031941
name: Abnormal portal venous system morphology
def: "Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins." [PMID:11796904]
is_a: HP:0006707 ! Abnormality of the hepatic vasculature
property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:39:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031942
name: Congenital absence of portal vein
def: "Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts." [PMID:18932274, PMID:2053351]
synonym: "CAPV" EXACT HP:0045077 []
synonym: "Missing portal vein" EXACT []
is_a: HP:0031941 ! Abnormal portal venous system morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:42:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031943
name: Akathisia
def: "A state of moror restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria." [PMID:17974927]
is_a: HP:0000711 ! Restlessness
property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:57:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031944
name: Pleural thickening
def: "An increase in the thickness of the pleura, generally related to scarring of the pleural tissue." [PMID:23287997]
is_a: HP:0002103 ! Abnormality of the pleura
property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T14:02:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031945
name: Elevated N,N-dimethylglycine level
def: "An increased concentration of N,N-dimethylglycine in the circulation." []
comment: An important metabolic pathway for choline involves its conversion into glycine via betaine aldehyde, betaine, N,N-dimethylglycine (DMG),1 and sarcosine. DMG is converted into sarcosine and sarcosine is converted into glycine by two oxidative demethylation steps mediated by DMG dehydrogenase (DMGDH; EC 1.5.99.2) and sarcosine dehydrogenase (EC 1.5.99.1), respectively. An increased concentration of DMG of DMG can caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH),  which normally catalyzes the conversion of DMG into sarcosine as well as the conversion of sarcosine into glycine.
is_a: HP:0003112 ! Abnormality of serum amino acid level
property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T11:54:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031946
name: Elevated urinary N,N-dimethylglycine level
def: "An increased concentration of N,N-dimethylglycine in the urine." []
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T11:59:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031947
name: Tongue tremor
def: "An unintentional, oscillating to-and-fro muscle movement affecting the tongue." []
synonym: "Jerky movements of the tongue" RELATED layperson []
is_a: HP:0030188 ! Tremor by anatomical site
property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T12:11:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031948
name: Snowball lesion of corpus callosum
def: "Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome." [PMID:24663235, PMID:26991403]
is_a: HP:0001273 ! Abnormal corpus callosum morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T12:16:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031949
name: Recurrent bacterial upper respiratory tract infections
def: "An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [PMID:26424818]
synonym: "Recurrent bacterial URI" EXACT HP:0045077 []
is_a: HP:0002788 ! Recurrent upper respiratory tract infections
property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T12:24:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031950
name: Usual interstitial pneumonia
def: "Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing." [PMID:26666486, PMID:8697837]
comment: Usual interstitial pneumonia (UIP) is usually identified by a honeycombing pattern in a CT scan; in contrast, diffuse interstitial pneumonia (DIP) is not associated with the honeycombing pattern of fibrotic tissue. DIP tends to stabilize or improve after treatment, UIP often continues to progress (irregular lines or honeycombing). Honeycombing, clustered cysts with well-defined walls involving the subpleural lung, is the key finding for making a definite diagnosis of UIP pattern. UIP is associated with autoimmune diseases such as rheumatoid arthritis (and rheumatoid arthritis-interstitial lung disease, or RA-ILD).
is_a: HP:0006530 ! Interstitial pulmonary abnormality
property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T12:27:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031951
name: Nocturnal seizures
def: "Seizures that occur while the affected individual is sleeping." [PMID:22334817, PMID:23385697, PMID:25941204]
synonym: "Sleep seizures" EXACT []
is_a: HP:0001250 ! Seizures
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T12:33:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031952
name: Neurogenic claudication
def: "Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine." [PMID:27770207]
is_a: HP:0001288 ! Gait disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:44:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031953
name: Cautious gait
def: "Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen." []
synonym: "Senile gait" EXACT []
is_a: HP:0001288 ! Gait disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:46:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031954
name: Dystonic gait
def: "Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients." [PMID:27770207]
is_a: HP:0001288 ! Gait disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:48:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031955
name: Antalgic gait
def: "To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position." [PMID:27770207]
synonym: "Limp" RELATED []
is_a: HP:0001288 ! Gait disturbance
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:50:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031956
name: Elevated serum aspartate aminotransferase
def: "An abnormally high concentration in the circulation of aspartate aminotransferase (AST)." []
synonym: "Aspartate aminotransferase increased" EXACT []
synonym: "Elevated serum AST" EXACT HP:0045077 []
synonym: "Elevated serum glutamic oxaloacetic transaminase" EXACT []
is_a: HP:0002910 ! Elevated hepatic transaminase
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:54:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031957
name: Spastic hemiparetic gait
def: "Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster." [PMID:27770207]
synonym: "Wernicke-Mann gait" EXACT []
is_a: HP:0002064 ! Spastic gait
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:01:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031958
name: Spastic paraparetic gait
def: "A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait." [PMID:27770207]
is_a: HP:0002064 ! Spastic gait
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:02:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031959
name: Leg dystonia
def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs." []
is_a: HP:0002451 ! Limb dystonia
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:23:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031960
name: Arm dystonia
def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms." []
is_a: HP:0002451 ! Limb dystonia
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:24:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031961
name: Abnormal serum anion gap
def: "Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration." [PMID:17699401]
comment: The determination of the anion gap is used in the detection and analysis of acid-base disorders, assessment of quality control in the chemical laboratory, and detection of such disorders as multiple myeloma, bromide intoxication, and lithium intoxication. The normal value can vary widely, reflecting both differences in the methods that are used to measure its constituents and substantial interindividual variability.
is_a: HP:0004360 ! Abnormality of acid-base homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:27:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031962
name: Elevated serum anion gap
def: "An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration)." [PMID:17699401]
comment: Elevated values of the serum anion gap most commonly indicate metabolic acidosis but can reflect laboratory error, metabolic alkalosis, hyperphosphatemia, or paraproteinemia. Metabolic acidosis can be divided into high anion and normal anion gap varieties, which can be present alone or concurrently.
is_a: HP:0031961 ! Abnormal serum anion gap
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:29:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031963
name: Decreased serum anion gap
def: "An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration)." [PMID:17699401]
comment: Low values of the serum anion gap most commonly indicate laboratory error or hypoalbuminemia but can denote the presence of a paraproteinemia or intoxication with lithium, bromide, or iodide.
is_a: HP:0031961 ! Abnormal serum anion gap
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:31:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031964
name: Elevated serum alanine aminotransferase
def: "An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells." [PMID:18366115]
synonym: "Alanine aminotransferase increased" EXACT []
synonym: "Elevated serum ALT" EXACT HP:0045077 []
synonym: "Elevated serum glutamic-pyruvic transaminase" EXACT []
is_a: HP:0002910 ! Elevated hepatic transaminase
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:37:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031965
name: Increased RBC distribution width
def: "Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage." [PMID:27867951, PMID:28683798]
comment: Although RDW has been traditionally used in the investigation of the etiology of anemia there is an increasing evidence linking elevated RDW with poor outcome in general population [4, 5], in patients with coronary artery disease, with metabolic syndrome and heart failure.
synonym: "Increased red blood cell distribution width" EXACT []
is_a: HP:0001877 ! Abnormal erythrocyte morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:42:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031967
name: Cloudy urine
def: "The appearance of the urine having visible material in suspension, i.e., appearing cloudy." []
comment: Cloudy appearance of urine may be related to the presence of bacteria, blood, sperm, crystals, or mucus.
synonym: "Turbid urine" RELATED []
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T23:20:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031969
name: Reduced blood urea nitrogen
def: "An abnormally low concentration of urea nitrogen in the blood." []
synonym: "Reduced BUN" EXACT HP:0045077 []
is_a: HP:0031970 ! Abnormal blood urea nitrogen concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T23:28:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031970
name: Abnormal blood urea nitrogen concentration
def: "Any deviation from the normal concentration of urea nitrogen in the blood." []
synonym: "Abnormal BUN concentration" EXACT HP:0045077 []
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T23:29:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031971
name: Subaortic ventricular septal bulge
def: "A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy." [ORCID:0000-0001-5835-5515, PMID:25129067, PMID:9203495]
comment: Subaortic ventricular septal bulge has been considered mainly as an incidental finding associated with older age and hypertension, although some authors have suggested that it may be part of the spectrum of hypertrophic cardiomyopathy, may determine some degree of left ventricular (LV) obstruction, which in turn may potentially cause symptoms such as syncope and dyspnea on effort.
is_a: HP:0011103 ! Abnormal left ventricular outflow tract morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T23:58:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031972
name: Presyncope
def: "Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause." [ORCID:0000-0001-5835-5515]
is_a: HP:0011025 ! Abnormal cardiovascular system physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:03:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031973
name: Increased vertical cup-to-disc ratio
def: "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc." [UManchester:psergouniotis]
comment: Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disc and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter.
is_a: HP:0012796 ! Increased cup-to-disc ratio
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:08:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031974
name: Increased vertical cup-to-disc ratio - 0.6
def: "Ratio of the height of the cup of the optic nerve head to the height of the disc (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis]
is_a: HP:0031973 ! Increased vertical cup-to-disc ratio
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:13:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031975
name: Increased vertical cup-to-disc ratio - 0.7
def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis]
is_a: HP:0031973 ! Increased vertical cup-to-disc ratio
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:15:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031976
name: Increased vertical cup-to-disc ratio - 0.8
def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis]
is_a: HP:0031973 ! Increased vertical cup-to-disc ratio
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:15:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031977
name: Increased vertical cup-to-disc ratio - 0.9
def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis]
is_a: HP:0031973 ! Increased vertical cup-to-disc ratio
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:15:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031978
name: Increased vertical cup-to-disc ratio - 1.0
def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis]
is_a: HP:0031973 ! Increased vertical cup-to-disc ratio
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:15:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031979
name: Abnormal urine carbohydrate level
def: "Any deviation from the normal concentration of a carbohydrate in the urine." []
comment: Carbohydrates, also known as saccharides, comprise mono-, d-, and oligosaccharides (substances from endogenous metabolism or from exogenous sources such as diet). Most saccharides except glucose are readily excreted in the urine, reflecting dieteray consuption. Increased sacchardie levels may indicate an enzyme defect or other disease if a certain type of saccharide or a certain profile is found.
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T12:53:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031980
name: Abnormal urine carboxylic acid level
def: "Any deviation from the normal concentration of a carboxylic acid in the urine." []
comment: Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH).
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T13:01:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031981
name: Elevated urine glycolate
def: "An increased concentration of glycolate in the urine." [PMID:2031609]
comment: Primary hyperoxaluria type 1 is an inborn error of glyoxalate metabolism characterized by excessive production and urinary excretion of oxalate and glycolate.
is_a: HP:0031980 ! Abnormal urine carboxylic acid level
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T13:03:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031982
name: Abnormal putamen morphology
def: "Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum." []
is_a: HP:0010994 ! Abnormal corpus striatum morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T13:26:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031983
name: Abnormal pulmonary thoracic imaging finding
def: "This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density." []
synonym: "Abnormal chest radiograph finding (lung)" EXACT []
is_a: HP:0002088 ! Abnormal lung morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T13:38:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031984
name: Esophageal food impaction
def: "A piece of food that has gotten stuck in the esophagus and prevents further swallowing." [PMID:21960934]
comment: Although any type of food can become stuck in the esophagus, in the adult population, structural diseases or abnormalities of the esophagus, specifically eosinophilic esophagitis, are the main causes of food impactions. Eosinophilic esophagitis causes solid food to become stuck in the esophagus intermittently.
is_a: HP:0002031 ! Abnormal esophagus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T14:55:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031985
name: Esophageal exudate
def: "An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa." [PMID:22919257]
is_a: HP:0002031 ! Abnormal esophagus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T14:58:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031986
name: Polyminimyoclonus
def: "Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant." [PMID:21339907]
is_a: HP:0001336 ! Myoclonus
property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T01:38:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031987
name: Diminished ability to concentrate
def: "Being unable to focus one's attention or mental effort on a particular object or activity." []
synonym: "Lack of concentration" EXACT []
synonym: "Poor concentration" EXACT layperson []
is_a: HP:0000708 ! Behavioral abnormality
property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T01:48:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031988
name: obsolete Muscle spasm
is_obsolete: true
replaced_by: HP:0003394

[Term]
id: HP:0031989
name: Perioral spasm
def: "A sudden involuntary contraction of the musculature surrounding the mouth." []
is_a: HP:0003394 ! Muscle spasm
property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T14:40:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031990
name: Chvostek sign
def: "A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve." [PMID:22970971, PMID:29443134]
comment: The Chvostek sign is considered to be a clinical indicator of hypocalcemia.
is_a: HP:0004305 ! Involuntary movements
property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T14:41:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031991
name: Increased urinary excretion of galactosyl hydroxylysine
def: "An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption." [PMID:10222355]
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T15:24:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031992
name: Apical hypertrophic cardiomyopathy
def: "Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity." [ORCID:0000-0001-5835-5515, PMID:23109785, PMID:8685759]
is_a: HP:0001639 ! Hypertrophic cardiomyopathy
property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T15:40:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031993
name: Hoffmann sign
def: "A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test." [PMID:11813951, PMID:20229121]
comment: The Hoffmann sign is regarded to be test for disease of the corticospinal pathways.
is_a: HP:0007256 ! Abnormal pyramidal sign
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T18:58:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031994
name: Bronchial breath sound
def: "Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy." [PMID:26229557]
is_a: HP:0030829 ! Abnormal breath sound
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T19:45:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031995
name: Squawks
def: "Squawks are short inspiratory wheezes of less than 200 msduration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and areoften preceded by late inspiratory crackles." [PMID:26229557]
comment: Squawks are found in pulmonary fibrosis of various causes, particularly in hypersensitivity pneumonitis. Other causes are detected in pneumonia and bronchiolitis obliterans.
is_a: HP:0030828 ! Wheezing
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T19:48:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031996
name: Inspiratory crackles
def: "Crackles that are heard during the inspiratory phase." [PMID:26229557]
is_a: HP:0030830 ! Crackles
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:46:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031997
name: Early inspiratory crackles
def: "Crackles that appear at the beginning of inspiration and end before mid-inspiration." [PMID:26229557]
comment: Early inspiratory crackles may be observed, for example, in chronic obstructive pulmonary disease (COPD). Crackles in COPD patients are scanty, gravity-independent, usually audible at the mouth, and strongly associated with severe airway obstruction. Crackles start early in inspiration and usually end before the midpoint of inspiration.
is_a: HP:0031996 ! Inspiratory crackles
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:47:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031998
name: Late inspiratory crackles
def: "Crackles that appear any time after the beginning of inspiration and last till the end of inspiration." [PMID:26229557]
comment: Late inspiratory crackles may be observed, for example, in diffuse parenchymal lung disease (DPLD). Crackles are commonly seen in patients with IPF/usual interstitial pneumonia (UIP), asbestosis, and desquamative interstitial pneumonia (DIP).
is_a: HP:0031996 ! Inspiratory crackles
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:49:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0031999
name: Expiratory crackles
def: "Crackles that occur during expiration." [PMID:26229557]
comment: Crackles are predominantly inspiratory in nature, but can also occur during expiration. It has been described in COPD, bronchiectasis, and IPF. One theory of the pathogenesis of expritory crackles states that some airways collapse during early expiration and air trapping develops. As expiration progresses, the pressure in the trapped region gradually increase, leading to a widened pressure difference across the airways. Once this pressure difference reaches the critical opening pressure, the airway pops open during expiration, producing crackles.
is_a: HP:0030830 ! Crackles
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:50:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032000
name: Pleural rub
def: "An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles" [PMID:26229557]
is_a: HP:0030829 ! Abnormal breath sound
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:53:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032001
name: Pink urine
def: "An abnormal pink color of urine." []
comment: Pink urine color may indicate blood or be a consequence of the ingestion of certain food such as beets, blackberries and rhubarb.
is_a: HP:0012086 ! Abnormal urinary color
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:57:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032002
name: Orange urine
def: "An abnormal orange color of urine." [PMID:18613989, PMID:29967083]
is_a: HP:0012086 ! Abnormal urinary color
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:59:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032003
name: Green urine
def: "An abnormal green color of urine." [PMID:28413291]
is_a: HP:0012086 ! Abnormal urinary color
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T22:05:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032004
name: Pruritus vulvae
def: "A sensation of itching in the vulvar region." []
is_a: HP:0000989 ! Pruritus
property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T22:20:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032005
name: Hemidystonia
def: "Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg." [PMID:11784827, PMID:4031909]
comment: In most cases of hemidystonia, a contralateral structural lesion of the basal ganglia or thalamus can be demonstrated by neuroimaging. Common aetiologies include stroke and trauma, and younger patients seem to have a greater propensity to develop hemidystonia after cerebral insults. There is often a latency between cerebral injury and the onset of dystonia. Hemidystonia may be preceded by ipsilateral hemiparesis which often resolves as hemidystonia develops.
is_a: HP:0001332 ! Dystonia
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T12:51:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032006
name: Lip tremor
def: "An unintentional, oscillating to-and-fro muscle movement affecting the lip." []
is_a: HP:0030188 ! Tremor by anatomical site
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T13:06:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032007
name: Maceration
def: "A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue." [PMID:12192848]
synonym: "Maceration of the skin" EXACT []
synonym: "Skin maceration" EXACT []
is_a: HP:0011121 ! Abnormality of skin morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T13:09:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032008
name: Pulmonary fat embolism
def: "The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung." [ORCID:0000-0001-5208-3432, PMID:24468004]
synonym: "Fat embolism" EXACT []
is_a: HP:0002204 ! Pulmonary embolism
property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T13:39:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032009
name: Infantile constant exotropia
def: "Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities." [UManchester:psergouniotis]
comment: Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750).
synonym: "Infantile (constant) exotropia" EXACT []
is_a: HP:0031713 ! Constant exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T15:37:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032010
name: Basic constant exotropia
def: "Constant exotropia for near and distance, presenting after 6 months of age." [UManchester:psergouniotis]
comment: Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750).
synonym: "Basic (constant) exotropia" EXACT []
is_a: HP:0031713 ! Constant exotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T15:39:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032011
name: Heterophoria
def: "Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs." []
comment: In contrast to heterophoria, heterotropias are manifest deviations. Some individuals may be phoric in one situation (e.g. for distance) and tropic in another (e.g. for near). The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia.
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T15:44:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032012
name: Heterotropia
def: "Manifest deviation of the visual axes not controlled by fusion." [UManchester:psergouniotis]
comment: The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia.
is_a: HP:0000486 ! Strabismus
property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T15:46:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032013
name: Hypermetric horizontal saccades
def: "Overshoot of horizontal (sideways) saccadic eye movements." []
is_a: HP:0007338 ! Hypermetric saccades
property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T16:28:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032014
name: Dysmetric vertical saccades
def: "Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction." [UManchester:psergouniotis]
is_a: HP:0000641 ! Dysmetric saccades
property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T16:29:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032015
name: Dysmetric horizontal saccades
def: "Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction." [UManchester:psergouniotis]
is_a: HP:0000641 ! Dysmetric saccades
property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T16:33:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032016
name: Abnormal sputum
def: "Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin." []
synonym: "Abnormal sputum morphology" EXACT []
is_a: HP:0012252 ! Abnormal respiratory system morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T12:36:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032017
name: Sputum eosinophilia
def: "An increased proportion of eosinophils in sputum in the differentiated cell count." [HPO:probinson, PMID:23741092, PMID:29146301]
comment: Sputum eosinophilia can be measured in various ways including measuing the mean percentage of eosinophils in the cell count of sputum induced by application of saline. The threshold chosen differs between studies, typically ranging from 1.25 to 3 percent. Increased sputum eosinophil counts may indicate a risk for severe chronic obstructive pulmonary disease or severe asthma.
is_a: HP:0032016 ! Abnormal sputum
property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T12:39:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032018
name: Multiple mononeuropathy
def: "A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially." [HPO:probinson, PMID:25494723]
comment: Mononeuritis multiplex can be a manifestation of several disorders including infectious, inflammatory, neoplastic, toxic, metabolic and hereditary conditions.
synonym: "Mononeuritis multiplex" EXACT []
is_a: HP:0009830 ! Peripheral neuropathy
property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T15:36:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032019
name: Muscle eosinophilia
def: "Eosinophil infiltration of skeletal muscle." [HPO:probinson, PMID:24424174, PMID:24803842]
comment: This phenotype can be measured by determining the number and location of eosinophils in skeletal muscle biopsies by Giemsa and modified hematoxylin/eosin staining. However, infiltrating eosinophils are not always identified in conventional muscle histologic examination, but the eosinophil major basic protein, whose extracellular diffusion is considered a hallmark of eosinophilic cytotoxicity, is usually detected by immunostaining in muscle biopsy.
synonym: "Eosinophilic infiltration of skeletal muscle" EXACT []
is_a: HP:0011805 ! Abnormal muscle morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T15:42:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032020
name: Eosinophilic bladder infiltration
def: "Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis." [PMID:15857336, PMID:28829677]
synonym: "Eosinophilic cystitis" EXACT []
is_a: HP:0025487 ! Abnormality of bladder morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T15:48:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032021
name: Eosinophilic liver infiltration
def: "Cellular infiltration of the liver parenchyma with a preponderance of eosinophils." [HPO:probinson, PMID:20457690, PMID:7835024]
synonym: "Eosinophilic hepatitis" RELATED []
is_a: HP:0030146 ! Abnormal liver parenchyma morphology
is_a: HP:0032064 ! Gastrointestinal eosinophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T15:51:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032022
name: Eosinophilic dermal infiltration
def: "Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils." [PMID:23730155, PMID:6724778]
synonym: "Eosinophilic dermatitis" EXACT []
is_a: HP:0011123 ! Inflammatory abnormality of the skin
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T13:38:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032023
name: Eosinophilic gallbladder infiltration
def: "Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination." [PMID:27872806]
synonym: "Eosinophilic cholecystitis" EXACT []
is_a: HP:0012437 ! Abnormal gallbladder morphology
is_a: HP:0032064 ! Gastrointestinal eosinophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T13:49:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032024
name: Ileal ulcer
def: "An erosion of the mucous membrane of in a portion of the ileum." [PMID:28670609]
is_a: HP:0001549 ! Abnormal ileum morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:06:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032025
name: Reduced serum alpha-1-antitrypsin
def: "A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs." [PMID:24507836]
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:16:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032026
name: Anetoderma
def: "Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis." [PMID:20652064, PMID:28116317]
comment: Anetoderma is a skin disorder characterized by focal loss of dermal elastic tissue. Clinically, it can present as various types of flaccid skin, such as protruding (raised), indented (depressed), or flat.
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:38:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032027
name: Retinal dots
def: "Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size." [UManchester:psergouniotis]
is_a: HP:0030506 ! Yellow/white lesions of the retina
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:43:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032028
name: Macular dots
def: "Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size." [UManchester:psergouniotis]
is_a: HP:0030500 ! Yellow/white lesions of the macula
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:44:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032029
name: Floppy eyelid
def: "Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis." [PMID:26139650, UManchester:psergouniotis]
is_a: HP:0031880 ! Eyelid laxity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:47:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032030
name: Lateral canthal tendon laxity
def: "Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed." [UManchester:psergouniotis]
is_a: HP:0031880 ! Eyelid laxity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:49:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032031
name: Medial canthal tendon laxity
def: "Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally." [UManchester:psergouniotis]
is_a: HP:0031880 ! Eyelid laxity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:50:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032032
name: Horizontal eyelid laxity
def: "Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distruction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present." [UManchester:psergouniotis]
is_a: HP:0031880 ! Eyelid laxity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:51:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032033
name: Vertical eyelid laxity
def: "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present." [UManchester:psergouniotis]
is_a: HP:0031880 ! Eyelid laxity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:52:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032034
name: Upper eyelid laxity
def: "Abnormally lax upper eyelid associated with tissue relaxation." [UManchester:psergouniotis]
is_a: HP:0031880 ! Eyelid laxity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:52:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032035
name: Lower eyelid laxity
def: "Abnormally lax lower eyelid associated with tissue relaxation." [UManchester:psergouniotis]
is_a: HP:0031880 ! Eyelid laxity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:53:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032036
name: Abnormal contrast sensitivity
def: "An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast fur seeing a target." [PMID:12809156, UManchester:psergouniotis]
is_a: HP:0000504 ! Abnormality of vision
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T15:21:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032037
name: Mildly reduced visual acuity
def: "Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation)." []
comment: A visual acuity of 6/6 signifies that a person can see symbols such as those on a Snellen chart from six meters the same as a person with normal eyesight. A visual acuity of 6/12 signifies that the person can see symbols at 6 meters the same as a person with normal eyesight could at 12 meters.
synonym: "Mild reduction in visual acuity" EXACT []
synonym: "Mild vision loss" EXACT []
synonym: "Mild visual loss" EXACT []
is_a: HP:0007663 ! Reduced visual acuity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T15:45:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032039
name: Abnormality of the ocular adnexa
def: "An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva." []
is_a: HP:0000315 ! Abnormality of the orbital region
property_value: http://purl.org/dc/elements/1.1/date 2018-09-03T00:17:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032040
name: Abnormal ocular adnexa physiology
def: "A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva." []
is_a: HP:0032039 ! Abnormality of the ocular adnexa
property_value: http://purl.org/dc/elements/1.1/date 2018-09-03T00:18:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032041
name: Vocal cord polyp
def: "A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color." [PMID:26628451, PMID:29749984]
comment: In severe conditions, polyps turn hemorrhagic and emerge as blood blisters on vocal cords. This occurs when collision forces, generated during the oscillatory cycle of phonation, cause microtrauma within the basement membrane of epithelium and the superficial layer of the lamina propria. Consequently, oscillation of vocal folds leads to neovascularization and hemorrhagic events within the damaged tissue. Depending on the size, position, and type of polyps, abnormal voice qualities including hoarseness, harshness, and breathiness would be different. The size of polyps varies from small to large masses, and a criterion to distinguish polyps from nodules is defined as mass bigger than 0.3 mm whereby bigger masses could be classified as polyps.
is_a: HP:0008777 ! Abnormal vocal cord morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-09-08T01:50:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032043
name: Odynophagia
def: "Pain experienced with swallowing." []
synonym: "Painful swallowing" EXACT layperson []
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T10:35:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032044
name: Decreased vigilance
def: "A reduction in the ability to maintain sustained attention characterized by reduced altertness." [PMID:16581292]
is_a: HP:0004372 ! Reduced consciousness/confusion
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T10:41:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032045
name: Hypoplastic carotid canal
def: "Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse." []
is_a: HP:0009911 ! Abnormal temporal bone morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T10:47:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032046
name: Focal cortical dysplasia
def: "A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons." [PMID:12707084]
synonym: "Focal cortical dysplasia is one of the most common entities associated with refractory epilepsy, especially in childhood." EXACT []
is_a: HP:0002539 ! Cortical dysplasia
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T10:55:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032047
name: Focal cortical dysplasia type I
def: "A type of focal cortical dysplasia that is characterized by abnormal cortical layering." [COST:neuromig, PMID:21219302]
is_a: HP:0032046 ! Focal cortical dysplasia
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:00:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032048
name: Focal cortical dysplasia type Ia
def: "A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination." [COST:neuromig, PMID:21219302]
is_a: HP:0032047 ! Focal cortical dysplasia type I
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:03:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032049
name: Focal cortical dysplasia type Ib
def: "A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination." [COST:neuromig, PMID:21219302]
is_a: HP:0032047 ! Focal cortical dysplasia type I
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:05:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032050
name: Focal cortical dysplasia type Ic
def: "A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination." [COST:neuromig, PMID:21219302]
is_a: HP:0032049 ! Focal cortical dysplasia type Ib
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:06:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032051
name: Focal cortical dysplasia type II
def: "A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities." [COST:neuromig, PMID:21219302]
is_a: HP:0032046 ! Focal cortical dysplasia
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:09:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032052
name: Focal cortical dysplasia type IIa
def: "A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins." [COST:neuromig, PMID:21219302]
comment: There are no balloon cells present (to be confirmed by immunohistochemistry). Discrimination of individual cortical layers is almost impossible (with the exception of Layer 1). Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter.
is_a: HP:0032051 ! Focal cortical dysplasia type II
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:11:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032053
name: Focal cortical dysplasia type IIb
def: "A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells." [COST:neuromig, PMID:21219302]
comment: Cortical lamination is frequently disrupted with the exception of Layer 1. The myelin content may also be altered in underlying subcortical white matter. Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. Histopathologically similar lesions are observed in cortical tubers and other gross MCDs, i.e. hemimegalencephaly or schizencephaly.
is_a: HP:0032051 ! Focal cortical dysplasia type II
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:12:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032054
name: Focal cortical dysplasia type III
def: "A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe." [COST:neuromig, PMID:21219302]
is_a: HP:0032046 ! Focal cortical dysplasia
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:15:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032055
name: Focal cortical dysplasia type IIIa
def: "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (HS, syn. Ammon's horn sclerosis)." [COST:neuromig, PMID:21219302]
is_a: HP:0032054 ! Focal cortical dysplasia type III
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:16:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032056
name: Focal cortical dysplasia type IIIb
def: "A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor." [COST:neuromig, PMID:21219302]
comment: This type of focal cortical dysplasia is associated with glial or glioneuronal tumors (Ganglioglioma, Dysembryoplastic Neuroepithelial Tumor (DNT, syn. DNET) or other epilepsy-associated neoplasms. It is important to exclude tumor infiltration in areas of cortical abnormalities before establishing the diagnosis of FCD. The etiology and pathogenesis of FCD Type IIIb remains to be determined, but is likely an acquired process.
is_a: HP:0032054 ! Focal cortical dysplasia type III
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:18:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032057
name: Focal cortical dysplasia type IIIc
def: "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis)." [COST:neuromig, PMID:21219302]
is_a: HP:0032054 ! Focal cortical dysplasia type III
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:23:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032058
name: Focal cortical dysplasia type IIId
def: "A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections." [COST:neuromig, PMID:21219302]
is_a: HP:0032054 ! Focal cortical dysplasia type III
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:25:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032059
name: Mild malformation of cortical development
def: "A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter." [COST:neuromig, PMID:21219302]
is_a: HP:0002539 ! Cortical dysplasia
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:35:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032060
name: Epithelioid hemangioma
def: "A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area." [NCIT:C4298, PMID:25484503, PMID:25927152]
comment: Epithelioid hemangioma is most common in middle-aged adults.
synonym: "Angiolymphoid hyperplasia with eosinophilia" EXACT []
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:50:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032061
name: Hypereosinophilia
def: "A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter)." [PMID:20538328]
is_a: HP:0001880 ! Eosinophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:54:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032062
name: Mallory-Weiss tear
def: "Vomiting-induced mucosal laceration at the esophago-gastric junction." [PMID:22560400]
is_a: HP:0002031 ! Abnormal esophagus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T12:01:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032063
name: Ankle joint effusion
def: "Abnormal accumulation of fluid in or around the ankle joint." []
is_a: HP:0003028 ! Abnormality of the ankles
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T12:08:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032064
name: Gastrointestinal eosinophilia
def: "Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them." [PMID:17868858, PMID:23964139]
synonym: "Eosinophilic enteritis" EXACT []
synonym: "Eosinophilic gastroenteritis" EXACT []
synonym: "Eosinophilic gastrointestinal disease" RELATED []
synonym: "GI eosinophilia" EXACT HP:0045077 []
is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract
property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T12:23:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032065
name: Abnormal serum bicarbonate concentration
def: "Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation." []
comment: Bicarbonate represents the second largest category of anions in plasma. The measurement of bicarbonate also captures carbonate (CO3[-2]) ions, carbon dioxide in solution, and carbamino compounds but the latter represent a tiny fraction of the total measured amount.
synonym: "Abnormal serum HCO3 concentration" EXACT HP:0045077 []
is_a: HP:0004360 ! Abnormality of acid-base homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-09-23T14:32:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032066
name: Decreased serum bicarbonate concentration
def: "An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation." []
synonym: "Decreased serum HCO3 concentration" EXACT HP:0045077 []
is_a: HP:0032065 ! Abnormal serum bicarbonate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-09-23T14:36:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032067
name: Elevated serum bicarbonate concentration
def: "An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation." []
synonym: "Elevated serum HCO3 concentration" EXACT HP:0045077 []
is_a: HP:0032065 ! Abnormal serum bicarbonate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-09-23T14:36:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032068
name: Increased urinary mucus
def: "An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate condictions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinaliysis." [PMID:8126784]
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-09-30T14:35:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032069
name: Anti-thyroglobulin antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin." [PMID:21196203]
comment: The autoimmune thyroid diseases (AITD), Graves' disease (GD) and Hashimoto's thyroiditis (HT) are most common endocrine disorders in humans. Both disorders are characterized by lymphocytic infiltration of the thyroid gland and the production of autoantibodies (aAb) against proteins that are thyroid-specific or expressed predominantly in the thyroid. The three main autoantigens are thyroperoxidase (TPO), thyroglobulin (Tg), and thyrotropin hormone receptor.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2018-09-30T14:43:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032070
name: Leptomeningeal enhancement
def: "Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis." [PMID:17374867]
comment: Contrast material enhancement for cross-sectional imaging in computed tomography and magnetic resonance imaging can be related to intravascular (vascular) enhancement and interstitial (extravascular) enhancement.
is_a: HP:0010651 ! Abnormal meningeal morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-09-30T15:02:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032071
name: Pulmonary eosinophilic infiltration
def: "The presence of eosinophils in the lungs as detected by bronchoalveolar lavage or tissue biopsy, with or without blood eosinophilia." [PMID:19618037, PMID:21428117]
synonym: "Eosinophilic pulmonary infiltration" EXACT []
synonym: "Pulmonary eosinophilia" RELATED []
synonym: "Pulmonary eosinophilic infiltrate" EXACT []
is_a: HP:0002088 ! Abnormal lung morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-09-30T15:15:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032072
name: Popliteal synovial cyst
def: "A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle." [PMID:25102502, PMID:26137182]
comment: Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size.
synonym: "Baker's cyst" EXACT []
is_a: HP:0002815 ! Abnormality of the knee
property_value: http://purl.org/dc/elements/1.1/date 2018-10-13T11:41:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032073
name: Aplasia of the fallopian tube
def: "Aplasia, that is failure to develop, of the fallopian tube." []
is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube
property_value: http://purl.org/dc/elements/1.1/date 2018-10-13T11:45:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032075
name: Splenopancreatic fusion
def: "Fusion of the pancreatic tail and spleen." [ORCID:0000-0001-5208-3432, PMID:18398855]
is_a: HP:0012090 ! Abnormal pancreas morphology
is_a: HP:0025408 ! Abnormal spleen morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-10-13T12:42:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032076
name: Abnormal male urethral meatus morphology
is_a: HP:0000036 ! Abnormality of the penis
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T13:36:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032077
name: Male urethral meatus stenosis
def: "An abnormal narrowing of the urethral opening (meatus) of the penis." [PMID:28537045]
comment: If the sex is not indicated, meatal stenosis is generally taken to refer to males, and thus we list this term as an exact synonym.
synonym: "Meatal stenosis" EXACT []
synonym: "Meatus stenosis" EXACT []
is_a: HP:0032076 ! Abnormal male urethral meatus morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T13:40:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032078
name: Angel-shaped phalanx
def: "A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head)." [PMID:8267010]
comment: In some cases an ASP can grow into an inconspicuous brachydactyly after physeal closure.
is_a: HP:0005918 ! Abnormal finger phalanx morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T13:49:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032079
name: Medial degeneration
def: "Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections." [PMID:27031798]
is_a: HP:0001679 ! Abnormal aortic morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:47:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032081
name: Intralamellar mucoid extracellular matrix accumulation
def: "A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units." [PMID:27031798]
is_a: HP:0200146 ! Mucoid extracellular matrix accumulation
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:53:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032082
name: Translamellar mucoid extracellular matrix accumulation
def: "A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees." [PMID:27031798]
is_a: HP:0200146 ! Mucoid extracellular matrix accumulation
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:53:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032083
name: Aortic elastic fiber fragmentation
def: "Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers." [PMID:27031798]
is_a: HP:0032079 ! Medial degeneration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:56:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032084
name: Aortic elastic fiber thinning
def: "A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers." [PMID:27031798]
comment: A healthy aorta has dense elastic fibers comprising each lamella. This term describes the elastic network as being thinned at each lamella with narrower and more frayed apart elastic fibers. This entity may be associated with an increase in extracellular matrix material in the lamellar unit. The use of an elastic stain is essential to identify this lesion.
is_a: HP:0032079 ! Medial degeneration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:57:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032085
name: Aortic elastic fiber disorganization
def: "Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers." [PMID:27031798]
comment: This rarer process is distinct from fragmentation and loss as the fibers acquire a more haphazard, poorly organized appearance, with loss of the usual parallel/concentric arrangement of elastic fibers within the lamellar unit. This finding is noticeable when at high power, and the orientation of the lamellar units parallel to the aortic lumen is lost. The use of an elastic stain is essential to identify this lesion. Disorganization of elastic fibers can be seen in conjunction with smooth muscle cell disorganization. A poorly oriented aortic specimen may appear to have disorganization and should not be confused with the real entity. This rarer entity should be commented upon, when present as it represents a more severe feature of medial degeneration, but is not essential for routine surgical pathology reporting.
is_a: HP:0032079 ! Medial degeneration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:58:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032086
name: Aortic smooth muscle cell nuclei loss
def: "A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain." [PMID:27031798]
comment: Smooth muscle cell nuclei loss replaces terms such as medionecrosis and smooth muscle cell necrosis that implied a loss of smooth muscle cells. While the loss of a nucleus suggests the loss of the entire cell, this is not easily appreciated on an hematoxylin and eosin stain stain. The shorter term smooth muscle cell loss was also considered by the consensus group and had many proponents, but the addition of nuclei was ultimately favored by the majority mostly as a histologic definition. Smooth muscle cell nuclei can be lost in patches or can be lost in a band-like pattern. This lesion can be noted in the absence of laminar medial collapse, described below. Both stains highlighting collagen and SMA immunohistochemistry can be used to highlight smooth muscle cell changes.
is_a: HP:0032079 ! Medial degeneration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:00:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032087
name: Aortic laminar medial collapse
def: "Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers." [PMID:27031798]
comment: Laminar medial collapse replaces the old term laminar medial necrosis and is to be used only when an elastic stain has demonstrated elastic fiber compaction. Laminar medial collapse appears as a darker band on an elastic stain as a result of a significant loss of intermixed smooth muscle cells.
is_a: HP:0032079 ! Medial degeneration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:03:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032088
name: Aortic smooth muscle cell disorganization
def: "Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells." [PMID:27031798]
is_a: HP:0032079 ! Medial degeneration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:04:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032089
name: Aortic medial fibrosis
def: "An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units)." [PMID:27031798]
is_a: HP:0032079 ! Medial degeneration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:05:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032090
name: Intralamellar aortic medial fibrosis
def: "A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units." [PMID:27031798]
is_a: HP:0032089 ! Aortic medial fibrosis
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:08:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032091
name: Translamellar aortic medial fibrosis
def: "A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units." [PMID:27031798]
is_a: HP:0032089 ! Aortic medial fibrosis
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:08:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032092
name: Left ventricular outflow tract obstruction
def: "Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle." [PMID:29262119]
comment: Common causes of left ventricular outflow tract (LVOT) obstruction include subaortic stenosis, bicupsid aortic valve, supravalvar aortic stenosis, coarctation of the aorta, and hypertrophic cardiomyopathy. Note that we reserve this term to describe the physiological abnormality, and denote the morphological abnormalities that lead to LVOT obstruction in the corresponding Morphology sections of the HPO.
is_a: HP:0030872 ! Abnormal cardiac ventricular function
property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:15:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032094
name: Increased circulating surfactant protein level
def: "An increased concentration of a surfactant protein in the blood circulation." []
comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Increased levels of serum SP-A, SP-B, SP-C and SP-D may reflect lung damage.
synonym: "Increased serum surfactant protein level" EXACT []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T10:03:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032096
name: Abnormal manganese concentration
def: "A deviation from the normal range of manganese in the blood circulation." []
is_a: HP:0010927 ! Abnormal blood inorganic cation concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:11:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032097
name: Hypermanganesemia
def: "An elevation above the normal concentration of manganese in the blood." [PMID:29382362]
synonym: "Increased blood manganese concentration" EXACT []
is_a: HP:0032096 ! Abnormal manganese concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:12:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032098
name: Hypomanganesemia
synonym: "A reduction below the normal concentration of manganese in the blood." EXACT []
is_a: HP:0032096 ! Abnormal manganese concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:14:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032099
name: Perioral radial furrowing
def: "The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976)." [PMID:27833976]
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:17:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032100
name: Abnormal doll's eye reflex
def: "The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage." [PMID:7299406]
is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:33:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032101
name: Unusual infection
def: "A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystisjirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections." [PMID:22052638]
is_a: HP:0010978 ! Abnormality of immune system physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T22:23:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032102
name: Wilson sign
def: "Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia." [PMID:12975201]
comment: Wilson sign may be indicative of medial femoral osteochondritis dissecans. Wilson postulated that impingement of the tibial eminence on the osteochondritic lesion caused pain and a resultant compensatory lateral rotation during gait.
is_a: HP:0030839 ! Knee pain
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T22:45:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032104
name: Saccadic oscillation
def: "An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade." [UManchester:psergouniotis]
synonym: "Saccadic oscillations" EXACT HP:0045078 []
is_a: HP:0000570 ! Abnormal saccadic eye movements
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T23:03:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032105
name: Macrosaccadic oscillations
def: "A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixatrion position and show a crescendo-decrescendo pattern." [PMID:14681893]
comment: Macrosaccadic oscillation is usually observed in acute damage to the  dorsal  cerebellum  involving  the  deep  cerebellar nuclei, as in demyelination, tumour or haematoma.
is_a: HP:0032104 ! Saccadic oscillation
property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T23:04:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032106
name: Conjunctival icterus
def: "Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease." []
synonym: "Scleral icterus" EXACT []
synonym: "Yellow conjunctiva" EXACT []
synonym: "Yellow sclera" EXACT []
synonym: "Yellowing of the whites of the eyes" EXACT layperson []
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T13:40:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032107
name: Limbal stem cell deficiency
def: "A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus." [PMID:26788074, UManchester:psergouniotis]
comment: The corneal epithelium covers the corneal surface and plays a major role in protection and transparency. Epithelial cells are shed regularly and replaced by stem cell sources located at the limbus, a rim of tissue located at the junction of the cornea and sclera. The limbal epithelial stem cells reside in specific regions at the limbus known as the limbal stem cell niches. Damage to the stem cells or disruption of the niches may lead to Limbal Stem Cell Deficiency. In the absence of a healthy corneal epithelium, the conjunctiva proliferates over the cornea resulting in opacification and vascularization, which in turn may lead to reduced vision, pain, and photophobia.
is_a: HP:0004328 ! Abnormal anterior eye segment morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:09:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032108
name: Mildly reduced contrast sensitivity
def: "A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss." [UManchester:psergouniotis]
synonym: "Mild reduction in contrast sensitivity" EXACT []
is_a: HP:0032036 ! Abnormal contrast sensitivity
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:16:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032109
name: Moderately reduced contrast sensitivity
def: "A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss." [UManchester:psergouniotis]
synonym: "Moderate reduction in contrast sensitivity" EXACT []
is_a: HP:0032036 ! Abnormal contrast sensitivity
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:18:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032110
name: Severely reduced contrast sensitivity
def: "A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss." [UManchester:psergouniotis]
is_a: HP:0032036 ! Abnormal contrast sensitivity
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:20:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032111
name: Abnormal Vistech contrast sensitivity test
def: "An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test." [PMID:1911660]
is_a: HP:0032036 ! Abnormal contrast sensitivity
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:23:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032112
name: Abnormal Pelli Robson contrast sensitivity chart test
def: "An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast." [PMID:16723494, UManchester:psergouniotis]
is_a: HP:0032036 ! Abnormal contrast sensitivity
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:25:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032113
name: Semidominant mode of inheritance
def: "A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected." [ClinGen:courtneythaxton, ClinGen:erinriggs, ClinGen:jennygoldstein, ClinGen:jimmyzqhen, ClinGen:marinadistefano, ClinGen:mattwright, ClinGen:scottgoehringer, ClinGen:tristannelson]
comment: Familial hypercholesterolemia is an example of a disease with this inheritance pattern.
is_a: HP:0000005 ! Mode of inheritance
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:33:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032114
name: Saccadic intrusion
def: "An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade." [UManchester:psergouniotis]
is_a: HP:0000570 ! Abnormal saccadic eye movements
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:42:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032116
name: Macrosquare-wave jerks
def: "Horizontal 10-40 degree excursions from fixation and back again." [ISBN:978-0198804550, UManchester:psergouniotis]
is_a: HP:0032114 ! Saccadic intrusion
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:46:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032117
name: Macrosaccadic oscillation
def: "Series of hypermetric saccades attempting to narrow in on the target (ocular past-pointing)." [ISBN:978-0198804550, UManchester:psergouniotis]
is_a: HP:0032114 ! Saccadic intrusion
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:47:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032118
name: Retinitis
def: "Inflammation of the retina of the eye." [UManchester:psergouniotis]
comment: Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina.
is_a: HP:0000479 ! Abnormal retinal morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:59:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032119
name: Narrow angle glaucoma
def: "A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle." [UManchester:psergouniotis]
is_a: HP:0000501 ! Glaucoma
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T15:31:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032120
name: Abnormal peripheral nervous system physiology
def: "Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord." []
is_a: HP:0410008 ! Abnormality of the peripheral nervous system
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T16:57:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032121
name: Froment sign
def: "An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint." [PMID:12916637]
synonym: "Froment thumb sign" EXACT []
is_a: HP:0032120 ! Abnormal peripheral nervous system physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T16:58:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032122
name: Very low visual acuity
def: "A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590)." []
is_a: HP:0007663 ! Reduced visual acuity
property_value: http://purl.org/dc/elements/1.1/date 2018-11-18T14:04:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032123
name: Ultra-low vision
def: "Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590)." []
is_a: HP:0007663 ! Reduced visual acuity
property_value: http://purl.org/dc/elements/1.1/date 2018-11-18T14:06:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032124
name: Abnormal proportion of non-class-switched memory B cells
def: "A deviation of the normal proportion of non-class-switched memory B cells in circulation relative to the total number of B cells." [PMID:28882820]
is_a: HP:0030373 ! Abnormal proportion of memory B cells
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T12:51:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032125
name: Increased proportion of non-class-switched memory B cells
def: "An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells." []
is_a: HP:0032124 ! Abnormal proportion of non-class-switched memory B cells
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T12:52:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032126
name: Decreased proportion of non-class-switched memory B cells
def: "A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells." []
is_a: HP:0032124 ! Abnormal proportion of non-class-switched memory B cells
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T12:53:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032127
name: Abnormal plasmablast proportion
def: "A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination." [PMID:22566959]
comment: Differentiation of B cells into plasmablasts (PB) is most commonly monitored with surface markers CD19, CD20, CD27, CD38, and CD138 and intracellular marker Ki-67.
is_a: HP:0025539 ! Abnormal B cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T12:59:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032128
name: Increased proportion of plasmablasts
def: "An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells." []
is_a: HP:0032127 ! Abnormal plasmablast proportion
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T13:02:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032129
name: Decreased proportion of plasmablasts
def: "A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells." []
is_a: HP:0032127 ! Abnormal plasmablast proportion
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T13:02:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032130
name: Mycobacterium abscessus abscessus infection
def: "Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections." [PMID:26295364]
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T13:30:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032131
name: Cervical dysplasia
def: "Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium." [PMID:12525422]
is_a: HP:0012888 ! Abnormality of the uterine cervix
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T13:45:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032132
name: Decreased circulating total IgG
def: "A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood." [PMID:17910333]
comment: Reductions in total IgG levels in adolescents or adults may be classified as mild-moderate (300-600 mg/dL), significant (100-299 mg/dL), or profoundly reduced (less than 100 mg/dL). In adolescents and adults, a total immunoglobulin (IgG + IgM + IgA) level greater than 600 mg/dL, with confirmed normal antibody responses, probably excludes humoral deficiency. Total immunoglobulin levels of 400 to 600 mg/dL or IgG levels of 200 to 400 mg/dL may contain adequate amounts of antibody; this becomes less likely if total immunoglobulin levels are less than 400 mg/dL or serum IgG levels are less than 200 mg/dL.
is_a: HP:0004315 ! Decreased circulating IgG level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:04:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032133
name: Transient decreased circulating total IgG
def: "A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood." []
is_a: HP:0032132 ! Decreased circulating total IgG
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:08:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032134
name: Chronic decreased circulating total IgG
def: "A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood." []
is_a: HP:0032132 ! Decreased circulating total IgG
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:09:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032135
name: Decreased circulating IgG subclass level
def: "A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood." [PMID:17910333]
comment: IgG subclass deficiency is defined as a reduction in 1 or more subclasses of IgG (IgG1 and IgG2 in particular) by more than 2 SDs below the mean for age-matched controls. Deficiencies in IgG1 or IgG2 are more likely to cause low serum IgG levels because these are the major components. IgG1 levels stabilize by the age of 5 years; however, adult levels of IgG2, IgG3, and IgG4 may not be achieved until adolescence. Thus, the interpretation of subclass levels is additionally problematic because levels of each subclass increase at different rates during development.
is_a: HP:0004315 ! Decreased circulating IgG level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:26:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032136
name: Decreased circulating IgG1 level
def: "A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation." []
is_a: HP:0032135 ! Decreased circulating IgG subclass level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:29:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032137
name: Decreased circulating IgG3 level
def: "A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation." []
is_a: HP:0032135 ! Decreased circulating IgG subclass level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:29:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032138
name: Decreased circulating IgG4 level
def: "A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation." [PMID:26929632]
is_a: HP:0032135 ! Decreased circulating IgG subclass level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:29:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032139
name: Reduced isohemagglutinin level
def: "Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)." [PMID:25309532]
comment: The determination of isohemagglutinins can be used to evaluate an individual's ability to mount an immune response except in persons with blood group AB.
synonym: "Decreased natural antibody to blood group agents" EXACT []
is_a: HP:0410292 ! Abnormal isohemagglutinin level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:04:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032140
name: Decreased specific antibody response to vaccination
def: "A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination." [PMID:26018535]
is_a: HP:0012475 ! Decreased circulating level of specific antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:08:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032141
name: Precordial pain
def: "A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck." [PMID:18122452]
is_a: HP:0100749 ! Chest pain
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:23:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032142
name: Fetor hepaticus
def: "Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic." [PMID:10791209]
synonym: "Foetor hepaticus" EXACT HP:0045076 []
is_a: HP:0100812 ! Halitosis
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:28:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032143
name: Burning mouth
def: "An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa." [PMID:25952601]
comment: This term implies that there is no obvious oral mucosal lesion causing the pain.
is_a: HP:0031815 ! Abnormal oral physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:36:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032144
name: Coffee ground vomitus
def: "Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit." [PMID:19564091]
synonym: "Coffee grounds emesis" EXACT []
synonym: "Coffee grounds vomiting" EXACT []
is_a: HP:0002239 ! Gastrointestinal hemorrhage
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:39:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032145
name: Sural nerve atrophy
def: "Wasting of the sural nerve, a sensory nerve in the calf region of the leg." []
synonym: "Atrophy of sural nerve" EXACT []
is_a: HP:0045010 ! Abnormality of peripheral nerves
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T16:26:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032146
name: HbC hemoglobin
def: "Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis." [PMID:15215497, PMID:20301551]
synonym: "Hemoglobin C" EXACT []
is_a: HP:0011902 ! Abnormal hemoglobin
property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T16:41:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032147
name: Erythromelalgia
def: "Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet." [ORCID:0000-0002-1089-1543, PMID:26419464]
comment: Warmth, ambulation, physical exercise, sitting, leg dependence and wearing shoes or gloves can provoke and aggravate symptoms while immersion in ice/cold water, uncovering affected areas, ventilation and elevation can ameliorate these symptoms. Pain attacks usually start with an itchy-like feeling and then progress to a severe burning sensation as was reported by most patients, with the durations of which ranging from several minutes to hours and even days. Erythromelalgia can be a Mendelian trait or can be triggered by polycythemia vera, lymphoproliferative disorders, hypertension, and hyperviscosity.
is_a: HP:0012531 ! Pain
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:02:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032148
name: Episodic pain
def: "Intermittant pain, i.e., pain that occurs occasionally and at irregular intervals." []
is_a: HP:0012531 ! Pain
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:21:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032149
name: Breakthrough pain
def: "A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain." [PMID:26438145]
is_a: HP:0032148 ! Episodic pain
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:26:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032150
name: Paroxysmal rectal pain
def: "Excruciating burning pain in the rectal area that may be triggered by defecation." [PMID:29650526]
is_a: HP:0032148 ! Episodic pain
is_a: HP:0500005 ! Anal pain
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:29:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032151
name: Episodic eosinophilia
def: "Recurrent episodes of marked eosinophilia that resolve spontaneously." [PMID:25527564]
is_a: HP:0001880 ! Eosinophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:56:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032152
name: Keratosis pilaris
def: "An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs." [PMID:27194977]
comment: Keratosis pilaris is characterized by keratinisation of the hair follicles of the skin.
is_a: HP:0011121 ! Abnormality of skin morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T13:20:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032153
name: Joint subluxation
def: "A partial dislocation of a joint." []
is_a: HP:0001367 ! Abnormal joint morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T13:55:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032154
name: Aphthous ulcer
def: "Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." [PMID:25346356]
synonym: "Canker sore" EXACT layperson []
is_a: HP:0011830 ! Abnormal oral mucosa morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T14:06:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032155
name: Abdominal cramps
def: "A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity." []
is_a: HP:0002027 ! Abdominal pain
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T14:21:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032156
name: Skin detachment
def: "Loss of sections of skin either spontaneously or after gentle handling." [PMID:27656858, RGD:gthayman]
synonym: "Detached skin" EXACT []
synonym: "Epidermal detachment" EXACT []
synonym: "Skin sloughing" EXACT []
is_a: HP:0011355 ! Localized skin lesion
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T15:19:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032157
name: Recurrent genital herpes
def: "Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks." [PMID:27532832]
is_a: HP:0005353 ! Recurrent herpes
property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T15:33:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032158
name: Unusual infection by anatomical site
def: "An unusual infection classified by the affected body part." []
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:17:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032159
name: Fungal meningitis
def: "An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis." [PMID:29244019]
is_a: HP:0001287 ! Meningitis
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:21:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032160
name: Cryptococcal meningitis
def: "A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis." [PMID:24715488]
comment: Cryptococcus yeasts are ubiquitous in the environment and are acquired by inhalation. In the immunocompromised host, reactivation of latent disease is believed to be responsible for the subsequent development of cryptococcal disease. For instance, in persons with depletion of CD4+ T cells, the ability of the immune response to adequately contain cryptococcal infection is impaired.
is_a: HP:0032159 ! Fungal meningitis
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:26:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032161
name: Coccidioidal meningitis
def: "A type of fungal meningitis caused by dissemination of coccidioides to to basilar meninges." [PMID:27927853]
comment: Coccidioides species are soil-dwelling fungi that are the causative pathogen of coccidioidomycosis, also known as Valley fever. Infection occurs from inhalation of fungal spores that become  airborne from soil in endemic regions. Sixty percent of infections are asymptomatic. The rate of dissemination from primary infection to extrapulomonary sites is higher in immune-compromised individuals. A common site of dissemination is to the basilar meninges, resulting in coccidioidal meningitis.
is_a: HP:0032159 ! Fungal meningitis
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:30:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032162
name: Unusual skin infection
def: "A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection." []
is_a: HP:0011122 ! Abnormality of skin physiology
is_a: HP:0032158 ! Unusual infection by anatomical site
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:47:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032163
name: Molluscum contagiosum
def: "Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state." [PMID:24740746]
is_a: HP:0032162 ! Unusual skin infection
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:51:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032164
name: Increased blood folate concentration
synonym: "An elevated circulating concentration of folic acid, which is also known as vitamin B9." EXACT []
is_a: HP:0040087 ! Abnormal blood folate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:04:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032165
name: Placental mesenchymal dysplasia
def: "Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees." [PMID:25171710, PMID:28515588]
comment: Histologically, placental mesenchymal dysplas (PMD) shows enlarged edematous stem villi with dilated vessels and absent trophoblastic proliferation. Cisterns may be seen within stem villi. The vessels are thick walled, with fibromuscular hyperplasia. Terminal villi are usually normal. The edematous stem villous stroma stains for Alcian blue, but is negative for smooth muscle actin, which shows positive staining of normal villous stroma. Staining for desmin and vimentin is retained in PMD, similarly to normal villous stroma.
is_a: HP:0100767 ! Abnormality of the placenta
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:14:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032166
name: Unusual gastrointestinal infection
synonym: "Unusual GI infection" EXACT HP:0045077 []
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:21:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032167
name: Clostridium difficile enteritis
def: "An infection of the small intestine (enteritis) by clostridium difficile." []
comment: Clostridium difficile (C. difficile) is a common nosocomial infection caused by a gram-negative spore forming organism that most commonly leads to pseudomembranous colitis. Certain individuals are able to mount an effective immunoglobulin G response against C. difficile toxin A. This humoral immune response against the C. difficile toxin is believed to allow an individual to become an asymptomatic carrier. In contrast, people who fail to mount an immune response to C. difficile toxin are susceptible to infection. In general, patients on immunosuppressive therapy have a blunted ability to mount immune responses and, therefore, may be at greater risk for infection.
synonym: "C. difficile enteritis" EXACT HP:0045077 []
is_a: HP:0032166 ! Unusual gastrointestinal infection
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:22:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032168
name: Clostridium difficile colitis
def: "An infection of the colon (colitis) by clostridium difficile." [PMID:22298971]
is_a: HP:0032166 ! Unusual gastrointestinal infection
property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:28:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032169
name: Severe infection
def: "A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection." []
synonym: "Unusual course of infection" EXACT []
is_a: HP:0032101 ! Unusual infection
property_value: http://purl.org/dc/elements/1.1/date 2018-12-16T15:11:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032170
name: Severe varicella zoster infection
def: "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella." [PMID:21748081, PMID:23248376]
comment: Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the paediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening.
is_a: HP:0031691 ! Severe viral infection
property_value: http://purl.org/dc/elements/1.1/date 2018-12-16T15:12:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032171
name: Bladder pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case." []
is_a: HP:0012531 ! Pain
property_value: http://purl.org/dc/elements/1.1/date 2018-12-16T15:23:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032172
name: Air crescent sign
def: "A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan." [PMID:26312141]
comment: The air crescent sign is said to be characteristic of invasive pulmonary aspergillosis, but it can also be seen in cavitating neoplasms, lung abscesses, and infections. This sign is considered a good marker of immune activity as it is seen when the necrotic tissue gets invaded by leukocytes and replaced by air in invasive pulmonary aspergillosis. Other conditions in which air crescent sign can be seen are pulmonary gangrene, pulmonary hematoma, Rasmussen aneurysm in a tuberculous cavity, and lung hydatid.
is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding
property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T10:55:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032173
name: Continuous diaphragm sign
def: "This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign." [PMID:26312141]
comment: Normally, the central part of the diaphragm is obscured by the heart, and hence is not seen on chest radiographs. Though this sign is commonly seen in pneumomediastinum, it can occasionally be also seen in pneumopericardium. This sign when seen, is a differential tool between pneumomediastinum and pneumothorax.
is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding
property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T10:59:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032174
name: Tree-in-bud pattern
def: "The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376)." [PMID:18195376]
comment: This pattern is most pronounced in the lung periphery and is usually associated with abnormalities of the larger airways. It is particularly common in diffuse panbronchiolitis, endobronchial spread of mycobacterial infection, and cystic fibrosis. A similar pattern is a rare manifestation of arteriolar (microangiopathic) disease.
is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding
property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T11:14:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032175
name: Signet ring sign
def: "This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging." [PMID:18195376]
comment: See Fig 66 of PMID:18195376.
is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding
property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T11:17:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032176
name: Apical pulmonary opacity
def: "An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space." [PMID:18195376, PMID:1994409]
comment: The usual appearance is of homogeneous soft-tissue attenuation capping the extreme lung apex (uni- or bilaterally), with a sharp or irregular lower border (See Figure 6 of PMID:18195376). Thickness is variable, ranging up to about 30 mm. An apical cap occasionally mimics apical consolidation on transverse CT scans.
synonym: "Apical cap" EXACT []
synonym: "Apical pleural thickening" EXACT []
is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding
property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T11:20:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032177
name: Parenchymal consolidation
def: "Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia)." []
comment: In radiographs and CT scans, consolidation appears as a homogeneous increase in pulmonary parenchymal attenuation that obscures the margins of vessels and airway walls (See Figure 19 of PMID:18195376). An air bronchogram may be present. The attenuation characteristics of consolidated lung are only rarely helpful in differential diagnosis (eg, decreased attenuation in lipoid pneumonia and increased in amiodarone toxicity).
is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding
property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T11:25:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032178
name: Flaky paint dermatosis
def: "A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001)." [PMID:1764353, PMID:24285001]
comment: Flaky paint dermatosis is a cutaneous manifestations of kwashiorkor.
synonym: "Flaky paint skin appearance" EXACT []
is_a: HP:0011121 ! Abnormality of skin morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T13:46:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032179
name: Abnormal circulating globulin level
def: "An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode." []
comment: Any increase or decrease in the globulin fraction should be evaluated by serum electrophoresis. The alpha1 fraction consists mainly of alpha1 antitrypsin, which is an acute phase reactant that goes up in acute inflammation. The alpha1 fraction is reduced in congenital alpha1 antitrypsin deficiency. The alpha2 region consists mainly of alpha2 macroglobulin and haptoglobin. The major beta globulin is transferring. Elevations can occur in severe iron deficiency.
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T14:01:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032180
name: Abnormal circulating metabolite concentration
def: "An abnormal level of an analyte measured in the blood." []
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T13:45:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032181
name: Anomalous hepatic venous drainage into the left atrium
def: "An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium." [PMID:12556263, PMID:16122505, PMID:20552624]
is_a: HP:0006707 ! Abnormality of the hepatic vasculature
property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:05:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032182
name: Abnormal proportion of memory T cells
def: "An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response." [PMID:8450264]
synonym: "Abnormal proportion of CD4+CD29+ cells" EXACT []
is_a: HP:0025540 ! Abnormal T cell subset distribution
property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:32:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032183
name: Decreased proportion of memory T cells
def: "An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood." [PMID:8450264]
synonym: "Decreased proportion of CD4+CD29+ cells" EXACT []
is_a: HP:0032182 ! Abnormal proportion of memory T cells
property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:35:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032184
name: Increased proportion of memory T cells
def: "An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood." []
synonym: "Increased proportion of CD4+CD29+ cells" EXACT []
is_a: HP:0032182 ! Abnormal proportion of memory T cells
property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:37:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032185
name: Disseminated molluscum contagiosum
def: "The presense of molluscum contagiosum lesions across multiple areas of the body." [PMID:21894250]
comment: Molluscum contagiosum (MC) are very common cutaneous warts caused by molluscum contagiosum virus (MCV), a double-stranded DNA virus of the poxvirus family. The typical clinical presentation consists of small, umbilicated, skin-coloured, pearly papules with predilection of the trunk, axillae, antecubital and popliteal fossae and genital area. Incidence first peaks in pre-school children. In immunocompetent individuals, lesions usually clear spontaneously within several months or years.
is_a: HP:0032163 ! Molluscum contagiosum
property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:58:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032186
name: Anal neoplasm
def: "A benign or malignant neoplasm that affects the anal canal or anal margin." [NCIT:C2877]
is_a: HP:0004378 ! Abnormality of the anus
property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T10:13:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032187
name: Anal intraepithelial neoplasia
def: "Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer." [NCIT:C4595, PMID:28255426]
comment: Risk factors for AIN and anal cancer consist of clinical factors and behaviors that are associated with the acquisition and persistence of human papilloma virus (HPV) infection. Anal cancer is defined as cancer arising from the squamous epithelium of the anus, making it distinct from colorectal cancer. The anal canal consists of stratified squamous epithelium originating outside the body and extending into the anus up to the dentate line, the point where it intersects the columnar epithelium of the rectum. Thus, the vast majority of anal cancer is squamous cell carcinoma (SCC), with a small minority consisting of adenocarcinoma or skin cancer variants. Anal cancer is preceded by intraepithelial neoplasia, a premalignant lesion.
is_a: HP:0032186 ! Anal neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T10:14:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032188
name: Cellular hypersensitivity to mitomycin C
def: "An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle." [ORCID:0000-0001-5208-3432, PMID:9650445]
comment: Cellular hypersensitivity to mitomycin C is used in diagnostic criteria for Fanconi Anemia.
is_a: HP:0003254 ! Abnormality of DNA repair
property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:19:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032189
name: Cellular hypersensitivity to diepoxybutane
def: "An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle." [ORCID:0000-0001-5208-3432, PMID:14679584]
comment: Cellular hypersensitivity to diepoxybutane is used in diagnostic criteria for Fanconi Anemia.
is_a: HP:0003254 ! Abnormality of DNA repair
property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:20:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032190
name: Abnormal meniscus morphology
def: "Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement." [PMID:26488288]
comment: The meniscus is a fibrocartilaginous structure of the knee joint that enables the even distribution of a weight-bearing load across the articular surfaces. The menisci bear between 40 to 70% of the load across the knee, and the rest of the load is transmitted directly to the articular cartilage.
is_a: HP:0002815 ! Abnormality of the knee
property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:29:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032191
name: Torn meniscus
def: "A tear in the cartilaginous pad (meniscus) of the knee." [PMID:21126396, PMID:26488288]
comment: Not all meniscal injuries require surgery. Some of them have the ability to heal. The meniscal tear pattern and the presence of adequate vascularity are both key points. Tears within 3 mm of the meniscosynovial junction usually have an adequate blood supply that allows healing. Tears of 5 mm or more from this junction are considered avascular and need surgical intervention.
is_a: HP:0032190 ! Abnormal meniscus morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:31:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032192
name: Hydatidiform mole
def: "Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast." [PMID:23232697, PMID:26421650]
comment: The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three situations can be envisaged at its origin: 1. The destruction/expulsion of the female pronucleus at the time of fertilization by 1 or 2 spermatozoa with the former being followed by an endoreplication of the male pronucleus leading to a complete hydatidiform mole (CHM) 2. A triploid zygote (fertilization by 2 spermatozoa) leading to a partial hydatidiform mole (PHM) but can also lead to haploid and diploid clones. The diploid clone may produce a normal fetus while the haploid clone after endoreplication generates a CHM 3. A nutritional defect during the differentiation of the oocytes or the deterioration of the limited oxygen pressure during the first trimester of gestation may lead to the formation of a HM.
is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord
property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T12:26:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032193
name: Decreased low-density lipoprotein particle size
def: "An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation." [ORCID:0000-0001-5356-4174, PMID:10417486, PMID:9973300]
comment: Elevated levels of low-density lipoprotein (LDL) cholesterol are associated with an increased risk of developing coronary artery disease. LDL particles are the major cholesterol-carrying lipoproteins in the blood circulation, consisting of a hydrophobic core of cholesterol esters and triglycerides surrounded by phospholipds, free cholesterol, and one molecule of apolipoprotein B-100 on the surface of the molecule. The LDL particle population is heterogeneous with the respect to size, density and composition. Distinct subpopulations vary in isoelectric point, electrical charge, hydrodynamic properties and immunoreactivity.
is_a: HP:0003107 ! Abnormal circulating cholesterol concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T12:51:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032195
name: Abnormal S wave
def: "Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart." []
is_a: HP:0012249 ! Abnormal ST segment
property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T13:30:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032196
name: Prominent S wave in lead I
def: "Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram." [PMID:27012403]
is_a: HP:0032195 ! Abnormal S wave
property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T13:32:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032197
name: Deep S wave in lead V5
def: "Abnormal depth of the S wave in lead V5 of the electrocardiogram." [PMID:29279530]
comment: The S wave refers to the negative deflection after an R wave within the QRS complex. This term refers to an abnormally deep (negative) deflection of the S wave in lead V5.
is_a: HP:0032195 ! Abnormal S wave
property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T13:39:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032198
name: Decreased prothrombin time
def: "Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT." [PMID:21470390]
synonym: "Decreased INR" EXACT HP:0045077 []
synonym: "Decreased international normalized ratio" EXACT []
synonym: "Decreased PT" EXACT HP:0045077 []
is_a: HP:0032199 ! Abnormal prothrombin time
property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T15:32:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032199
name: Abnormal prothrombin time
def: "Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT." [PMID:29939529]
synonym: "Abnormal PT" EXACT HP:0045077 []
is_a: HP:0012200 ! Abnormality of prothrombin
property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T15:34:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032200
name: Perivascular fibrosis
def: "The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern." [PMID:21502911, PMID:30363608]
is_a: HP:0025015 ! Abnormal vascular morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T11:05:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032201
name: Rotator cuff tear
def: "The rotator cuff comprises four muscles (supraspinatus, infraspinatus, teres minor, and subscapularis) which attach close to the humeral head via tendons and are critically involved in stability and function of the shoulder. A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus." [PMID:29229593]
comment: Rotator cuff tears can be cuased by injury, overuse, or other causes and may be associated with pain and swelling of the shoulder.
is_a: HP:0003043 ! Abnormality of the shoulder
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T11:23:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032202
name: Vulvar intraepithelial neoplasia
def: "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC." [NCIT:C4756, PMID:30187167]
is_a: HP:0030416 ! Vulvar neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T13:31:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032203
name: Lymphoid nodular hyperplasia
def: "Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236)." [PMID:10400105, PMID:17368236]
comment: The presence of LNH in the mucosa of the colon and/or terminal ileum is a frequent finding (30%) in children undergoing colonoscopy. Unless associated with other endoscopic lesions, LNH is mostly related to a condition of delayed-type food hypersensitivity and affects mainly preschool or school-age children with hematochezia.
synonym: "Lymphonodular hyperplasia of the colon" EXACT []
is_a: HP:0002250 ! Abnormal large intestine morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T14:41:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032204
name: Chronic active Epstein-Barr virus infection
def: "Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed." []
comment: The mechanisms by which an EBV infection becomes chronic active are likely to be heterogenous and may involve host immune factors, viral factors, or both.
is_a: HP:0031035 ! Chronic infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T15:00:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032205
name: Increased circulating galectin-3 level
def: "Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and tiggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling." [PMID:24065222]
synonym: "An increased circulation of galectin-3 in the blood circulation." EXACT []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T15:21:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032207
name: Abnormal cerebrospinal fluid metabolite concentration
synonym: "Abnormal CSF metabolite concentration" EXACT HP:0045077 []
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T15:49:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032208
name: Increased urinary type 1 collagen N-terminal telopeptide level
def: "An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours." [PMID:30572827]
comment: Telopeptides are tiny protein particles found particularly in type I collagen that include 15-20 amino acids. Telopeptides bound to the ends of these amino acids are removed from the body through the urine as a result of collagen metabolism. During resorption, amino and carboxyl terminal fragments, called telopeptides, are bound to collagens with cross links and can be released into the circulation and excreted in the urine. Some recent studies have demonstrated that the type 1 collagen N-terminal telopeptide (NTx) level is more specific to bone tissue than any other resorption markers.
synonym: "Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine" EXACT []
synonym: "Increased urine NTx level" EXACT HP:0045077 []
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T16:17:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032209
name: Abnormal circulating free T3 concentration
def: "A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3." []
synonym: "Abnormal circulating free triiodotyronine concentration" EXACT []
is_a: HP:0031508 ! Abnormal thyroid hormone level
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T20:34:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032210
name: Decreased circulating free T3
def: "A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation." []
is_a: HP:0032209 ! Abnormal circulating free T3 concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T20:42:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032211
name: Increased urinary epithelial cell count
def: "An increased number of epithelial cells per high-power field in urinanalysis." []
comment: There are three types of epithelial cells that are encountered upon urinalysis, sqamous, renal tubular, and transitional.
is_a: HP:0012614 ! Abnormal urine cytology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:01:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032212
name: Increased urinary sqamous epithelial cell count
def: "An increased number of squamous epithelial cells per high-power field in urinanalysis." [PMID:26782662]
comment: Sqamous epithelial cells may indicate contamination of the urine sample and are a poor predictor of urine culture contamination,
is_a: HP:0032211 ! Increased urinary epithelial cell count
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:04:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032213
name: Increased urinary renal tubular epithelial cell count
def: "An increased number of renal tubular epithelial cells per high-power field in urinanalysis." []
is_a: HP:0032211 ! Increased urinary epithelial cell count
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:05:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032214
name: Increased urinary transitional epithelial cell count
def: "An increased number of transitional epithelial cells per high-power field in urinanalysis." []
comment: Transitional epithelial cells can be found in urinary tract starting from the renal pelvis down the ureters to the bladder and the proximal urethra.
is_a: HP:0032211 ! Increased urinary epithelial cell count
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:07:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032215
name: Disseminated cutaneous warts
def: "Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities." [PMID:29730845]
is_a: HP:0200043 ! Verrucae
property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:19:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032216
name: Lymphocytic infiltration of the colorectal mucosa
def: "Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy." [PMID:9824342]
is_a: HP:0025090 ! Abnormal large intestinal mucosa morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T00:37:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032217
name: Indurated nodule
def: "A skin nodule that is unusually hard (indurated)." [PMID:16252032, PMID:23006954]
is_a: HP:0200036 ! Skin nodule
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T00:45:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032218
name: Reduced proportion of CD4 T cells
def: "A reduction in the proportion of CD4 T cells relative to the total number of T cells." []
is_a: HP:0031392 ! Abnormal proportion of CD4 T cells
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T00:48:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032219
name: Increased proportion of CD4 T cells
def: "An elevation in the proportion of CD4 T cells relative to the total number of T cells." []
is_a: HP:0031392 ! Abnormal proportion of CD4 T cells
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T00:48:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032220
name: Interface hepatitis
def: "Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma." []
is_a: HP:0012115 ! Hepatitis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T01:12:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032221
name: Periportal emperipolesis
def: "The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area." [PMID:25654060, PMID:9420892]
comment: Emperipolesis is derived from the Greek (em-inside; peri-around; polemai-wander about) and is as the active penetration of one cell by another which remains intact. It differs from phagocytosis in that an engulfed cell exists temporarily within another cell and with an intact normal structure while in phagocytosis, the engulfed cell is destroyed by the protective action of lysosomal enzymes.
is_a: HP:0030146 ! Abnormal liver parenchyma morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T01:20:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032222
name: Serrated intestinal polyps
def: "The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification." [NCIT:C96470, PMID:27540339]
synonym: "Serrated polyposis" RELATED []
is_a: HP:0200008 ! Intestinal polyposis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T01:40:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032223
name: Blood group
def: "Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems." [PMID:26085552]
comment: At present, there are 34 blood group systems recognized by the International Society for Blood Transfusion.
is_a: HP:0000001 ! All
property_value: http://purl.org/dc/elements/1.1/date 2019-01-24T11:33:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032224
name: ABO blood group
def: "The ABO system consists of A and B antigens and antibodies against these antigens." [PMID:15373665, PMID:26085552]
comment: The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens.
is_a: HP:0032223 ! Blood group
property_value: http://purl.org/dc/elements/1.1/date 2019-01-24T11:40:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032225
name: Perifollicular fibroma
def: "Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle." [PMID:21747629]
comment: Multiple Perifollicular fibroma (PFF)  lesions have been linked to adenomatous colonic polyps and they may be inherited as an autosomal dominant trait. Most reports have described multiple PFF lesions involving the scalp.
is_a: HP:0008069 ! Neoplasm of the skin
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:14:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032226
name: Abnormal sebaceous gland morphology
def: "Any structural anomaly of the sebaceous glands." [PMID:17975220]
comment: Sebaceous glands are found all over the human body except on the palms of the hands and soles of the feet. The glands are numerous on the face and scalp and are sparse in areas such as the back. They can number as many as 400-900 glands/cm2 on the face. Sebaceous glands are usually found in association with a hair follicle, which, together, is referred to as a pilosebaceous unit. The sebaceous gland is located in association with the upper portion of the hair follicle, where it is not affected by the hair cycle. Sebaceous glands can be unilobular or multilobular. Although a majority of sebaceous glands are part of a pilosebaceous unit, some glands can be found without an associated hair follicle. Sebaceous glands secrete sebum, which contains cholesterol, cholesteryl esters, squalene, fatty acids, diglycerides and triglycerides, and wax esters.
is_a: HP:0011138 ! Abnormality of skin adnexa morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:26:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032227
name: Sebaceous hyperplasia
def: "A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola." [PMID:24759166]
is_a: HP:0032226 ! Abnormal sebaceous gland morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:30:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032228
name: Trichodiscoma
def: "A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion." [NCIT:C43333, PMID:10522666]
comment: In contrast to trichodiscoma, fibrofolliculoma shows a keratin-plugged and often distorted hair follicle in the center of the lesion. A mantle of mucoid or fibrous stroma surrounds this central follicle; thin epithelial strands emerge from the central follicle and may form a netlike pattern.
is_a: HP:0012842 ! Skin appendage neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:38:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032229
name: Perinuclear antineutrophil antibody positivity
def: "The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils." [ORCID:0000-0002-7440-8864, PMID:24854381, PMID:27481040, PMID:28661185]
synonym: "p-ANCA positivity" EXACT HP:0045077 []
is_a: HP:0003453 ! Antineutrophil antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:41:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032230
name: Cytoplasmic antineutrophil antibody positivity
def: "The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils." [ORCID:0000-0002-7440-8864, PMID:24854381, PMID:27481040, PMID:28661185]
is_a: HP:0003453 ! Antineutrophil antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:43:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032231
name: Hypochromia
def: "A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells." []
is_a: HP:0001903 ! Anemia
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:52:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032232
name: Increased circulating creatine kinase MB isoform
def: "An increased concentration of the MB isoform of creatine kinase in the blood circulation." [PMID:21448658]
comment: All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury.
synonym: "Increased circulating CK MB isoform" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:05:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032233
name: Increased circulating creatine kinase BB isoform
def: "An increased concentration of the BB isoform of creatine kinase in the blood circulation." [PMID:21448658]
comment: All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury.
synonym: "Increased circulating CK BB isoform" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:11:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032234
name: Increased circulating creatine kinase MM isoform
def: "An increased concentration of the MM isoform of creatine kinase in the blood circulation." [PMID:21448658]
comment: All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury.
synonym: "Increased circulating CK MM isoform" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:12:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032235
name: Anti-La/SSA antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the La/Sjogrens syndrome antigen." [PMID:27431345]
comment: Anti-Ro/SSA and anti-La/SSB are considered hallmarks of Sjogrens syndrome and are associated with systemic disease, but are also present in the sera of systemic lupus erythematodes patients. The most common antinuclear antibodies in Sjogren patients are those directed against the autoantigens Ro/SSA and La/SSB. The Ro/La particle is a protein-RNA complex formed by the association of the Ro60, and La/SSB proteins with small cytoplasmic RNA (hyRNA). Anti-Ro/SSA and anti-La/SSB antibodies are detected in 50 to 70 percent of primary Sjogren patients. Anti-Ro/SSA and anti-La/SSB antibodies are correlated with younger age at diagnosis, longer disease duration, more severe dysfunction of the exocrine glands, recurrent parotid gland enlargement and higher intensity of the lymphocytic infiltrates in the minor salivary glands.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:16:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032236
name: Increased circulating immature neutrophil count
def: "An abnormally increased number of immature neutrophils in the peripheral blood circulation." [PMID:25887201]
comment: Various forms of immature neutrophils appear during granulopoiesis in the bone marrow. A seven day mitotic stage (myeloblast to promyelocyte to myelocyte) is followed by a seven day maturation stage (myelocyte to metamyelocyte to band cell to mature segmented neutrophil). Mature neutrophils are normally held in storage pools in the bone marrow before their entry into the circulation.
is_a: HP:0011991 ! Abnormal neutrophil count
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:21:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032237
name: Increased circulating myelocyte count
def: "An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1." [PMID:25887201]
is_a: HP:0032236 ! Increased circulating immature neutrophil count
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:25:19Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032238
name: Increased circulating metamyelocyte count
def: "An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1." [PMID:25887201]
is_a: HP:0032236 ! Increased circulating immature neutrophil count
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:27:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032239
name: Increased circulating band cell count
def: "An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2." [PMID:25887201]
synonym: "Increased circulating band form neutrophils" EXACT []
synonym: "Left shift" EXACT []
is_a: HP:0032236 ! Increased circulating immature neutrophil count
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:28:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032240
name: Elevated circulating E selectin level
def: "An increased concentration of E selectin in the blood circulation." [PMID:12591072]
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T19:35:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032241
name: Cervical neoplasm
def: "A tumor (abnormal growth of tissue) of the uterine cervix." [NCIT:C2940]
is_a: HP:0012888 ! Abnormality of the uterine cervix
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T19:47:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032242
name: Cervical intraepithelial neoplasia
def: "A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer." [PMID:28453530]
is_a: HP:0032241 ! Cervical neoplasm
property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T19:49:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032243
name: Abnormal tissue metabolite concentration
def: "Any deviation from the normal concentration of a metabolite in a tissue." []
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T11:56:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032244
name: Decreased serum thromboxane B2
def: "A reduction in the concentration of thromboxane B2 in the blood circulation." [PMID:6101498]
is_a: HP:0030389 ! Abnormal circulating thromboxane concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T12:14:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032245
name: Abnormal metabolism
def: "An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products." []
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T12:48:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032247
name: Persistent CMV viremia
def: "Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation." [PMID:28130404]
comment: Persistent CMV infection has important clinical relevance in the global population. Although immune-mediated control of CMV in healthy individuals prevents disease and overt clinical symptoms, immune dysregulation caused by immunosuppressive treatments in transplant and cancer patients, congenital immunodeficiencies, HIV/AIDS, and/or aging can result in CMV viremia, life threatening disease, and even death.
is_a: HP:0032248 ! Persistent viremia
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T13:32:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032248
name: Persistent viremia
def: "Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host." []
is_a: HP:0020071 ! Viremia
is_a: HP:0032169 ! Severe infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T13:36:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032249
name: Coccidioidomycosis
def: "Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii." [PMID:23843703]
comment: Persons with immunodeficiency diseases, diabetics, transplant recipients, and prisoners are also particularly vulnerable to infection by Coccidioides.
synonym: "Valley fever" EXACT []
is_a: HP:0032255 ! Opportunistic fungal infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T13:37:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032250
name: Acinetobacter infection
def: "An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay." [PMID:22546906]
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:38:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032251
name: Abnormal immune system morphology
is_a: HP:0002715 ! Abnormality of the immune system
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:44:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032252
name: Granuloma
def: "A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis." [PMID:10908370, PMID:11168676, PMID:937513]
comment: Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs.
is_a: HP:0032251 ! Abnormal immune system morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:44:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032253
name: Eosinophilic granuloma
def: "A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris." [PMID:21938183]
comment: Eosinophilic granuloma (EG) is a benign disorder that affects children and young adults, particularly males. Solitary EG accounts for the majority of  Langerhans cell histiocytosis cases, usually involving bone and less commonly the lymph nodes, lung or skin.
is_a: HP:0032252 ! Granuloma
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:50:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032254
name: Increased circulating copper concentration
def: "An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration." []
synonym: "Elevated serum coper" EXACT []
synonym: "Hypercupremia" EXACT []
is_a: HP:0010836 ! Abnormal circulating copper concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T17:13:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032255
name: Opportunistic fungal infection
def: "An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system." []
is_a: HP:0020100 ! Unusual fungal infection
is_a: HP:0031690 ! Opportunistic infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:09:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032256
name: Histoplamsosis
def: "Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons." [PMID:26897068, PMID:30619685]
comment: Most patients exhibit pulmonary signs and symptoms, accompanied by radiographic abnormalities, which often are mistaken for community-acquired pneumonia caused by bacterial or viral agents. Most of the infected individuals remain asymptomatic or have very mild illness that does not get diagnosed as histoplasmosis. Significant symptoms develop in less than 1% of patients and most frequently present as pulmonary or disseminated histoplasmosis. Immunocompromised individuals, including patients with AIDS, hematologic malignancies, transplant recipients, and patients receiving prolonged steroids, are at higher risk of developing acute disseminated disease with a rapid and aggressive course.
is_a: HP:0032255 ! Opportunistic fungal infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:10:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032257
name: Disseminated histoplasmosis
def: "Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS." [PMID:30619685]
is_a: HP:0032256 ! Histoplamsosis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:15:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032258
name: Pulmonary histoplasmosis
def: "Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum." [PMID:21810958]
is_a: HP:0032256 ! Histoplamsosis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:17:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032259
name: Chronic tinea infection
def: "The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect." [PMID:25403034]
comment: Tinea is usually followed by a Latin term that designates the involved site, such as tinea corporis and tinea pedis. Tinea versicolor (now called pityriasis versicolor) is not caused by dermatophytes but rather by yeasts of the genus Malassezia. Tinea unguium is more commonly known as onychomycosis. Dermatophytes are usually limited to involvement of hair, nails, and stratum corneum, which are inhospitable to other infectious agents. Dermatophytes include three genera: Trichophyton, Microsporum, and Epidermophyton.
is_a: HP:0031035 ! Chronic infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:30:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032260
name: Opportunistic bacterial infection
def: "An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system." []
is_a: HP:0031690 ! Opportunistic infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:37:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032261
name: Nontuberculous mycobacterial pulmonary infection
def: "An infection of the lung caused by environmental mycobacteria. SUch infections can occur in individuals with predisposing lung disease or immune disease." [PMID:24624285, PMID:7472715]
comment: Historically, human infections due to Mycobacterium were due almost exclusively to Mycobacterium tuberculosis (TB); the extensive societal impact of this infection is legendary. More recently, other species of mycobacterium causing clinical disease have been identified and, in many geographical regions, cause greater disease burden than TB. These organisms are referred to by a variety of collective names such as anonymous or atypical mycobacteria, mycobacteria other than tuberculosis (MOTT) and nontuberculous mycobacteria (NTM).
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:38:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032262
name: Pulmonary tuberculosis
def: "A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria." [PMID:30345099]
comment: Predisposing factors include poverty, social disruption, malnutrition, different causes of immune suppression, human immunodeficiency virus (HIV) infection, HIV-TB co-infection and increasing drug resistance.
synonym: "Pulmonary TB" EXACT HP:0045077 []
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T19:04:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032263
name: Increased blood pressure
def: "Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension." [PMID:9137951]
synonym: "Increased BP" EXACT HP:0045077 []
is_a: HP:0030972 ! Abnormal systemic blood pressure
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:07:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032264
name: Anti-NMDA receptor antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor." [PMID:24729779]
synonym: "Presence of anti-N-methyl-D-aspartate Receptor antibody in blood" EXACT []
synonym: "Presence of anti-NMDAR antibody in blood" EXACT []
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:12:00Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032265
name: CSF autoimmune antibody positivity
def: "The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues." []
synonym: "Cerebrospinal fluid autoimmune antibody positivity" EXACT []
is_a: HP:0002960 ! Autoimmunity
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:13:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032266
name: CSF anti-NMDA receptor antibody positivity
def: "The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor." [PMID:29651625]
synonym: "Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF" EXACT []
synonym: "Presence of anti-NMDAR antibody in cerebrospinal fluid" EXACT []
synonym: "Presence of NMDAR antibody in CSF" EXACT []
is_a: HP:0032265 ! CSF autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:14:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032267
name: Empty delta sign
def: "This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases." [PMID:19881070]
comment: The use of multislice contrast-enhanced CT scan, with reconstructions into thinner slices in different planes, markedly improves the yield. The sign may not be seen in the early stage (less than 5 days) of thrombosis, as the fresh clot is hyperdense, or in the late stage (after more than 2 months), as numerous channels of recanalization develop in the thrombus after 2 months.
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:21:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032268
name: Dural tail sign
def: "This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor." [PMID:19881070]
comment: This sign has been traditionally considered as highly specific for meningioma. However, it is seen only in 60% of meningiomas and has also been reported in nonmeningiomatous lesions such as chloromas, primary CNS lymphomas, sarcoidosis, schwannomas, metastases, and syphilitic gummata.
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:24:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032269
name: Lemon sign
comment: This sign represents the loss of the normal convex contour of the frontal bones, with flattening or inward scalloping, seen on a transverse fetal sonogram obtained at the biparietal diameter level. It has a strong association with spina bifida and is very useful for detecting this condition before 24 weeks of gestation in high-risk patients. It has high sensitivity and specificity. The lemon sign may disappear as gestational age advances and hence it is less reliable after 24 weeks. The sign is not specific for spina bifida and has also been seen in encephalocele, Dandy-Walker malformation with encephalocele, thanatophoric dysplasia, cystic hygroma, diaphragmatic hernia, corpus callosal agenesis, hydronephrosis, and umbilical vein varix.
is_a: HP:0001197 ! Abnormality of prenatal development or birth
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:27:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032270
name: Optic nerve tram-track sign
def: "A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common." [PMID:19881070]
is_a: HP:0000587 ! Abnormality of the optic nerve
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:29:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032271
name: Extrapulmonary tuberculosis
def: "A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB." [PMID:16300038, PMID:25861336]
comment: Extrapulmonary involvement can be seen in patients with concurrent AIDS and tuberculosis. The risk of extrapulmonary tuberculosis and mycobacteremia increases with advancing immunosuppression.
synonym: "Extrapulmonary TB" EXACT HP:0045077 []
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:39:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032272
name: Elevated urinary N-acetylaspartic acid level
def: "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry." [PMID:8412017]
comment: Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals.
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:01:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032273
name: Increased circulating N-Acetylaspartic acid concentration
def: "An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation." [PMID:8412017]
synonym: "Increased circulating N-acetyl aspartate level" EXACT []
synonym: "Increased circulating N-acetyl aspartic acid level" EXACT []
synonym: "Increased circulating N-acetyl-L-aspartic acid level" EXACT []
synonym: "Increased circulating N-acetylaspartate level" EXACT []
synonym: "Increased circulating NAA level" EXACT []
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:06:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032274
name: Increased CSF N-Acetylaspartic acid concentration
def: "An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF)." [PMID:8412017]
synonym: "Increased N-acetyl aspartate levels in CSF" EXACT []
synonym: "Increased N-acetyl aspartic acid levels in CSF" EXACT []
synonym: "Increased N-acetyl-L-aspartic acid levels in CSF" EXACT []
synonym: "Increased N-acetylaspartate levels in CSF" EXACT []
synonym: "Increased NAA levels in CSF" EXACT []
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:07:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032275
name: Recurrent shingles
def: "Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes." [PMID:24113666]
is_a: HP:0005353 ! Recurrent herpes
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:15:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032276
name: Prominent subcalcaneal fat pad
def: "Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062." [PMID:26769062]
comment: This pad normally protects the foot against the forces to which it is exposed during the ground contact phase of each step.
is_a: HP:0001760 ! Abnormality of the foot
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:38:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032277
name: Lozenge-shaped umbilicus
comment: An ovoid depression of the tissue that immediately surrounds the umbilicus, resulting in a lozenge-shaped depression encircling a slightly prominent (protruding) umbilicus. {xref="ISBN-13:978-0195300451"}
is_a: HP:0001551 ! Abnormal umbilicus morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:47:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032278
name: 2-hydroxyglutarate aciduria
def: "An increase in the level of 2-hydroxyglutaric acid in the urine." []
comment: 2-hydroxyglutaric aciduria can cause causes progressive cerebral damage.
is_a: HP:0003215 ! Dicarboxylic aciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:55:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032281
name: Abnormal base excess
def: "Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C)." [PMID:30067929]
comment: The base excess increases in metabolic alkalosis and decreases in metabolic acidosis, but its utility in interpreting blood gas results is controversial. The term base excess is used in clinical practice, but the available blood gas devices calculate either the standard base excess, also called the base excess of the extracellular fluid, or the base excess of blood. Base deficit is calculated as the base excess times minus one.
is_a: HP:0004360 ! Abnormality of acid-base homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T23:07:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032282
name: Contact dermatitis
def: "An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis." []
is_a: HP:0000964 ! Eczema
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T23:19:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032283
name: Disseminated nontuberculous mycobacterial infection
def: "An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease." []
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T23:26:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032284
name: Ultra-low vision with retained motion projection
def: "Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm)." [UManchester:psergouniotis]
is_a: HP:0032123 ! Ultra-low vision
property_value: http://purl.org/dc/elements/1.1/date 2019-02-10T13:52:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032285
name: Ultra-low vision with retained light projection
def: "Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus." [UManchester:psergouniotis]
is_a: HP:0032123 ! Ultra-low vision
property_value: http://purl.org/dc/elements/1.1/date 2019-02-10T13:53:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032286
name: Ultra-low vision with retained light perception
def: "Ultra-low vision but with retained ability to perceive the difference between light and dark." [UManchester:psergouniotis]
is_a: HP:0032123 ! Ultra-low vision
property_value: http://purl.org/dc/elements/1.1/date 2019-02-10T13:54:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032287
name: Ultra-low vision with no light perception
def: "Ultra-low vision with complete lack of light and form perception." [UManchester:psergouniotis]
is_a: HP:0032123 ! Ultra-low vision
property_value: http://purl.org/dc/elements/1.1/date 2019-02-10T13:55:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032288
name: Polyclonal elevation of circulating IgG
def: "An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains." [PMID:15663032]
is_a: HP:0003237 ! Increased circulating IgG level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:19:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032289
name: Oligoclonal elevation of circulating IgG
def: "An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." []
is_a: HP:0003237 ! Increased circulating IgG level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:23:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032290
name: Monoclonal elevation of IgG
def: "An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." []
comment: Monoclonal gammopathies are associated with a clonal process that is malignant or potentially malignant. In contrast, polyclonal gammopathies may be caused by any reactive or inflammatory process, and they usually are associated with nonmalignant conditions.
is_a: HP:0003237 ! Increased circulating IgG level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:37:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032291
name: Monoclonal elevation of intact IgG
def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain." []
is_a: HP:0032290 ! Monoclonal elevation of IgG
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:39:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032292
name: Monoclonal elevation of IgG light chain
def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain." [PMID:10926917]
comment: Each monomeric IgG antibody consists of four chains: two heavy chains, providing class specificity, and two light chains, kappa or lambda.
is_a: HP:0032290 ! Monoclonal elevation of IgG
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:41:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032293
name: Monoclonal elevation of IgG heavy chain
def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain." []
is_a: HP:0032290 ! Monoclonal elevation of IgG
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:42:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032294
name: Monoclonal elevation of IgG kappa chain
def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain." []
is_a: HP:0032292 ! Monoclonal elevation of IgG light chain
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:42:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032295
name: Monoclonal elevation of IgG lambda chain
def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain." []
is_a: HP:0032292 ! Monoclonal elevation of IgG light chain
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:43:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032296
name: Increased circulating IgG subtype
def: "An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subtypes." [PMID:25368619]
comment: The four subclasses, IgG1, IgG2, IgG3, and IgG4, which are highly conserved, differ in their constant region, particularly in their hinges and upper CH2 domains. These regions are involved in binding to both IgG-Fc receptors (Fc-gammaR) and C1q. As a result, the different subclasses have different effector functions,
is_a: HP:0003237 ! Increased circulating IgG level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:46:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032297
name: Increased circulating IgG3 level
def: "An abnormally increased concentration of the IgG3 subtype in the blood circulation." [PMID:25368619, UCDenver:tjcallahan]
comment: IgG3 antibodies are particularly effective in the induction of effector functions.
is_a: HP:0032296 ! Increased circulating IgG subtype
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:50:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032298
name: Increased circulating IgG1 level
def: "An abnormally increased concentration of the IgG1 subtype in the blood circulation." [PMID:25368619, UCDenver:tjcallahan]
comment: Antibody responses to soluble protein antigens and membrane proteins primarily induce IgG1, but are accompanied with lower levels of the other subclasses, mostly IgG3 and IgG4. Because IgG1 is normally the most abundant subclass, a lack of IgG1 seen in a variety of primary and secondary antibody deficiencies, can result in decreased total IgG levels (hypogammaglobulinemia). IgG1 deficiencies, sometimes in combination with other IgG subclass deficiencies, are associated with recurrent infections.
is_a: HP:0032296 ! Increased circulating IgG subtype
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:52:27Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032299
name: Increased circulating IgG2 level
def: "An abnormally increased concentration of the IgG2 subtype in the blood circulation." [PMID:25368619, UCDenver:tjcallahan]
comment: Immunoglobulin G-antibody responses to bacterial capsular polysaccharide antigens can be almost completely restricted to IgG2.
is_a: HP:0032296 ! Increased circulating IgG subtype
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:55:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032300
name: Increased circulating IgG4 level
def: "An abnormally increased concentration of the IgG4 subtype in the blood circulation." [PMID:25368619, UCDenver:tjcallahan]
comment: Allergens are often good inducers of IgG1 and IgG4, in addition to IgE. IgG4 antibodies are often formed following repeated or long-term exposure to antigen in a non-infectious setting and may become the dominant subclass.
is_a: HP:0032296 ! Increased circulating IgG subtype
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:56:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032301
name: Genital warts
def: "Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress." [PMID:28722914]
comment: Genital warts are the clinical manifestations of a sexually transmitted disease caused by some types of human papillomavirus (HPV).
is_a: HP:0200043 ! Verrucae
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:10:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032302
name: Kappa Bence Jones proteinuria
def: "The presence of free monoclonal kappa immunoglobulin light chains in the urine." []
is_a: HP:0030156 ! Bence Jones Proteinuria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:22:01Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032303
name: Lambda Bence Jones proteinuria
def: "The presence of free monoclonal lambda immunoglobulin light chains in the urine." []
is_a: HP:0030156 ! Bence Jones Proteinuria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:23:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032304
name: Abnormal mannose-binding protein level
def: "Any deviation from the normal concentration of mannose-binding protein in the blood circulation." []
comment: Mannose-binding protein is encoded by the MBL2 gene. It is a calcium-dependent lectin involved in innate immune defense and that binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway.
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:27:46Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032305
name: Decreased mannose-binding protein level
def: "An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation." [OHSU:jpgourdine, PMID:25783214]
is_a: HP:0032304 ! Abnormal mannose-binding protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:29:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032306
name: Increased mannose-binding protein level
def: "An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation." [OHSU:jpgourdine, PMID:25783214]
is_a: HP:0032304 ! Abnormal mannose-binding protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:29:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032308
name: Increased circulating procalcitonin level
def: "An elevated concentration of procalcitonin in the blood circulation." [PMID:28794881, UCDenver:tjcallahan]
comment: Procalcitonin is a 116 amino acid peptide that has an approximate MW of 14.5 kDa and belongs to the calcitonin (CT) superfamily of peptides. It can be divided into 3 sections including the amino terminus of the PCT region, immature calcitonin, and calcitonin carboxyl-terminus peptide-1 (CCP-1). Procalcitonin is encoded by CALC-1 gene located on chromosome 11. Cleavage in 1 site of the primary transcript of CALC-1 gene produces pre-PCT, which further undergoes proteolytic cleavage of its signal sequence to produce PCT. The synthesized PCT then undergoes post-translational processing to produce small peptides and mature CT. PCT is a biomarker that exhibits greater specificity than other proinflammatory markers (eg, cytokines) in identifying patients with sepsis and can be used in the diagnosis of bacterial infections. The short half-life (25-30 hours in plasma) of PCT, coupled with its virtual absence in health and specificity for bacterial infections, gives it a clear advantage over the other markers of bacterial infection.
is_a: HP:0100530 ! Abnormal calcium-phosphate regulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T10:46:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032309
name: Abnormal granulocyte count
def: "Any deviation from the normal cell count per volume of granulocytes in the blood circulation." []
comment: Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells.
is_a: HP:0001911 ! Abnormal granulocyte morphology
is_a: HP:0011893 ! Abnormal leukocyte count
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T10:54:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032310
name: Granulocytosis
def: "An increased count of granulocytes in the peripheral blood circulation." []
is_a: HP:0032309 ! Abnormal granulocyte count
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T10:57:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032311
name: Increased circulating globulin level
def: "An abnormally elevated concentration of globulins in the blood." [UCDenver:tjcallahan]
is_a: HP:0032179 ! Abnormal circulating globulin level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:01:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032312
name: Decreased circulating globulin level
def: "An abnormally reduced concentration of globulins in the blood." []
is_a: HP:0032179 ! Abnormal circulating globulin level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:02:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032313
name: Frontotemporal hypertrichosis
def: "Excessive, increased hair growth located in the region of the forehead and temple." []
is_a: HP:0002219 ! Facial hypertrichosis
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:05:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032314
name: Abnormal areolar morphology
def: "An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple." []
is_a: HP:0031093 ! Abnormal breast morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:26:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032315
name: Areolar fullness
def: "The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape." []
is_a: HP:0032314 ! Abnormal areolar morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:27:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032316
name: Family history
def: "Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins." []
comment: This subontology is intended to help record summary information about family members if only a limited amount of information is available or required.
is_a: HP:0032443 ! Past medical history
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:40:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032317
name: Family history of cancer
def: "A close blood relative had cancer." []
is_a: HP:0032316 ! Family history
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:43:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032318
name: Family history of heart disease
def: "A close blood relative had heart disease." []
is_a: HP:0032316 ! Family history
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:45:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032319
name: Health status
def: "Health status of a family member with respect to the disease being investigated in a proband." []
is_a: HP:0032316 ! Family history
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:46:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032320
name: Affected
def: "This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband)." []
is_a: HP:0032319 ! Health status
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:47:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032321
name: Unaffected
def: "This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded." []
is_a: HP:0032319 ! Health status
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:48:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032322
name: Healthy
def: "No history of any serious disease, including the disease being investigated in the proband." []
is_a: HP:0032319 ! Health status
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:49:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032323
name: Periodic fever
def: "Episodic fever that recurs at regular intervals." []
is_a: HP:0001954 ! Recurrent fever
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:54:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032324
name: Non-periodic recurrent fever
def: "Episodic fever that recurs at irregular intervals." []
is_a: HP:0001954 ! Recurrent fever
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:54:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032325
name: Lacunar stroke
def: "A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain." [PMID:15834013]
is_a: HP:0002140 ! Ischemic stroke
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:57:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032326
name: Methicillin-resistant Staphylococcus aureus infection
def: "Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection." [PMID:16186732]
synonym: "MRSA infection" EXACT HP:0045077 []
is_a: HP:0032260 ! Opportunistic bacterial infection
property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T12:04:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032327
name: Interhemispheric cyst
def: "Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system." [PMID:27195030]
is_a: HP:0012703 ! Abnormal subarachnoid space morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-16T14:47:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032328
name: Temporomandibular joint adhesion
def: "Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ." [PMID:12139272, PMID:19534789]
comment: See Figure 1 of PMID:19534789.
is_a: HP:0010754 ! Abnormality of the temporomandibular joint
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T11:34:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032329
name: Increased urinary 11-deoxycortisol level
def: "An abnormally elevated concentration of 11-deoxycortisol in the urine." [OHSU:jpgourdine, PMID:10689646]
comment: Increased urinary 11-Deoxycortisol is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency.
is_a: HP:0012029 ! Abnormal urine hormone level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T13:41:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032330
name: Increased urinary 11-deoxycorticosterone level
def: "An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine." [OHSU:jpgourdine, PMID:10689646]
comment: Increased urinary 11-deoxycorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency.
is_a: HP:0012029 ! Abnormal urine hormone level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T13:52:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032331
name: Increased urinary 11-deoxytetrahydrocorticosterone level
def: "An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine." [OHSU:jpgourdine, PMID:10689646]
comment: Increased urinary 11-deoxytetrahydrocorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency.
is_a: HP:0012029 ! Abnormal urine hormone level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T13:59:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032332
name: Oligoclonal elevation of circulating IgM
def: "An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase." []
is_a: HP:0003496 ! Increased circulating IgM level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:07:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032333
name: Polyclonal elevation of circulating IgA
def: "A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis." []
is_a: HP:0003261 ! Increased circulating IgA level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:10:14Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032334
name: Oligoclonal elevation of circulating IgA
def: "An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." []
is_a: HP:0003261 ! Increased circulating IgA level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:10:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032335
name: Monoclonal elevation of circulating IgA
def: "An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." []
is_a: HP:0003261 ! Increased circulating IgA level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:10:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032336
name: Increased circulating specific IgE antibody
is_a: HP:0010701 ! Abnormal immunoglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:13:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032337
name: Monoclonal elevation of circulating IgE
def: "An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." []
is_a: HP:0003212 ! Increased circulating total IgE level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:15:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032338
name: Oligoclonal elevation of circulating IgE
def: "An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." []
is_a: HP:0003212 ! Increased circulating total IgE level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:16:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032339
name: Polyclonal elevation of circulating IgE
def: "A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis." []
is_a: HP:0003212 ! Increased circulating total IgE level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:16:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032340
name: Abnormal spirometry test
def: "An abnormal spirometry test result. In this test, the individual being tested exhales into a tube connected to a machine called a spirometer, which measures the volume of air expired against time. Patients are asked to take a maximal inspiration and then to forcefully expel air for as long and as quickly as possible." [PMID:22347750, PMID:24695507]
is_a: HP:0030878 ! Abnormality on pulmonary function testing
property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T12:38:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032341
name: Reduced forced vital capacity
def: "An abnormal reduction in the amount of air a person can expel following maximal insipiration." [PMID:22347750, PMID:24695507]
comment: The threshold for an abnormally low FVC is defined as less than the LLN for adults or less than 80 percent of predicted for those five to 18 years of age, indicating a restrictive pattern. The LLLN (lower limit of normal) is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III).
synonym: "Decreased forced vital capacity" EXACT []
synonym: "Reduced FVC" EXACT HP:0045077 []
is_a: HP:0032340 ! Abnormal spirometry test
property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T12:48:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032342
name: Reduced forced expiratory volume in one second
synonym: "An abnormal reduction in the amount of air a person can forcefully expel in one second." EXACT []
is_a: HP:0032340 ! Abnormal spirometry test
property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T12:54:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032344
name: Upslanting toenail
def: "Upturned concavity of toenails." []
comment: See Figure 1 of PMID:25776851.
synonym: "Ski-jump toenail" EXACT []
synonym: "Upturned toenail" EXACT []
is_a: HP:0008388 ! Abnormal toenail morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T13:14:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032345
name: Elevated cancer Ag 19-9 level
def: "An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation." []
comment: CA 19-9 is also referred to as sialyl Lewis-a (sLea). It is expressed on the surface of cancer cells as a glycolipid and as an O-linked glycoprotein. Subsequently, CA 19-9 was also identified in the tissue and sera of patients with other gastrointestinal tumors including esophageal, gastric, biliary and pancreatic cancer. CA 19-9 is derived from an aberrant pathway during production of its normal counterpart disialyl Lewis-a which has one extra sialic acid residue attached through a 2-to-6 linkage. Disialyl Lewis-a is normally expressed on the epithelial surface of digestive organs, serves as a ligand for monocytes and macrophages, and helps in immunosurveillance. Epigenetic silencing of the gene for 2-to-6 sialyl transferase during early stages of carcinogenesis leads to abnormal synthesis and accumulation of sialyl Lewis-a (CA 19-9).
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T13:26:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032346
name: Cutaneous lichen amyloidosis
def: "Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs." [PMID:28342017, PMID:29630157]
comment: Lichen amyloidosis is mostly associated with severe pruritus. It is a keratin-derived amyloidosis, in which cytokeratins serve as amyloid precursors, affecting only the dermis. Histological findings are grouped colloid bodies, which correspond to apoptotic basal keratinocytes.
is_a: HP:0012309 ! Cutaneous amyloidosis
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:20:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032347
name: Cutaneous macular amyloidosis
def: "A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern." [PMID:26981113]
comment: Two types of keratotic amyloidosis have been identified: macular and lichen amyloidosis, and the latter is more common. In keratotic amyloidosis, keratin depositions originating from basal keratinocyte are mainly CK5 positive.
synonym: "Macular amyloidosis" EXACT []
is_a: HP:0012309 ! Cutaneous amyloidosis
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:26:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032348
name: Cutaneous nodular amyloidosis
def: "A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue." [PMID:28537855]
is_a: HP:0012309 ! Cutaneous amyloidosis
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:30:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032349
name: Serinuria
def: "A increased concentration of serine in the urine." [UCDenver:tjcallahan]
is_a: HP:0008353 ! Neutral hyperaminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:34:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032350
name: Sulfocysteinuria
def: "A increased concentration of sulfocysteine in the urine." [PMID:28980090, UCDenver:tjcallahan]
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:43:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032351
name: Phenylalaninuria
def: "Increased level of phenylalanine in urine." [PMID:18566668, UCDenver:tjcallahan]
synonym: "Increased level of phenylalanine in urine" EXACT []
is_a: HP:0008353 ! Neutral hyperaminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:46:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032352
name: Methioninuria
def: "Increased level of methionine in urine." [UCDenver:tjcallahan]
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:48:53Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032353
name: Leucinuria
def: "Increased level of leucine in urine." [UCDenver:tjcallahan]
is_a: HP:0008353 ! Neutral hyperaminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:51:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032355
name: Decreased peak expiratory flow
def: "A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways." [PMID:28005993, UCDenver:tjcallahan]
is_a: HP:0032340 ! Abnormal spirometry test
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:59:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032356
name: Decreased pre-bronchodilator forced vital capacity
def: "An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication." [PMID:24695507, UCDenver:tjcallahan]
synonym: "Decreased pre bronchodilator forced vital capacity" EXACT []
synonym: "Decreased prebronchodilator forced vital capacity" EXACT []
is_a: HP:0032341 ! Reduced forced vital capacity
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:02:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032357
name: Decreased post-bronchodilator forced vital capacity
def: "An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication." [PMID:24695507, UCDenver:tjcallahan]
synonym: "Decreased post bronchodilator forced vital capacity" EXACT []
synonym: "Decreased postbronchodilator forced vital capacity" EXACT []
is_a: HP:0032341 ! Reduced forced vital capacity
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:05:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032358
name: Decreased post-bronchodilator forced expiratory volume in one second
def: "An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication." []
synonym: "Decreased post bronchodilator forced expiratory volume in one second" EXACT []
synonym: "Decreased postbronchodilator forced expiratory volume in one second" EXACT []
is_a: HP:0032342 ! Reduced forced expiratory volume in one second
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:09:37Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032359
name: Decreased forced expiratory flow 25-75%
def: "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled." [PMID:24695507, UCDenver:tjcallahan]
synonym: "Decreased FEF25-75%" EXACT HP:0045077 []
is_a: HP:0032340 ! Abnormal spirometry test
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:12:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032360
name: Decreased pre-bronchodilator forced expiratory flow 25-75%
def: "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication." [PMID:24695507, UCDenver:tjcallahan]
synonym: "Decreased pre bronchodilator forced expiratory flow 25-75%" EXACT []
synonym: "Decreased pre-bronchodilator FEF25-75%" EXACT HP:0045077 []
synonym: "Decreased prebronchodilator forced expiratory flow 25-75%" EXACT []
is_a: HP:0032359 ! Decreased forced expiratory flow 25-75%
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:15:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032361
name: Decreased post-bronchodilator forced expiratory flow 25-75%
def: "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication." []
synonym: "Decreased post bronchodilator forced expiratory flow 25-75%" EXACT []
synonym: "Decreased post-bronchodilator FEF25-75%" EXACT HP:0045077 []
synonym: "Decreased postbronchodilator forced expiratory flow 25-75%" EXACT []
is_a: HP:0032359 ! Decreased forced expiratory flow 25-75%
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:19:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032362
name: Increased circulating corticosterone level
def: "An abnormally elevated concentration of corticosterone in the blood." [UCDenver:tjcallahan]
is_a: HP:0012112 ! Abnormal circulating corticosterone level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:25:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032363
name: Decreased circulating corticosterone level
def: "An abnormally reduced concentration of corticosterone in the blood." []
is_a: HP:0012112 ! Abnormal circulating corticosterone level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:31:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032364
name: Abnormal CSF amino acid level
def: "An abnormal concentration of an amino acid in the cerebrospinal fluid." []
synonym: "Abnormal cerebrospinal fluid amino acid level" EXACT []
is_a: HP:0025454 ! Abnormal CSF metabolite level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:33:35Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032365
name: Exacerbated by aspirin ingestion
def: "Applied to a sign or symptom that is worsened by ingestion of aspirin." []
is_a: HP:0025285 ! Aggravated by
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:36:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032366
name: Positive direct antiglobulin test
def: "A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction." [PMID:28134589]
comment: The DAT is a method used to detect immunoglobulin or complement bound in vivo to RBCs, using anti-human reagents. There are 3 different reagents that may be used: monospecific reagents to detect either bound immunoglobulin G (IgG) or bound complement (C3) and polyspecific reagents that can simultaneously detect IgG and/or C3. In screening of RBCs for the presence of bound globulins and/or C3, many laboratories may choose to use the polyspecific reagent initially (ie, as a screen for any bound IgG and/or complement) and, if positive, subsequently use monospecific reagents to specifically distinguish what is bound to the RBC surface.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:43:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032367
name: Abnormal growth hormone level
def: "Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful." []
synonym: "Abnormal somatotropin level" EXACT []
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T18:15:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032368
name: Acidemia
def: "An abnormally low blood pH (usually defined as less than 7.35)." [PMID:24381489]
comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
is_a: HP:0004360 ! Abnormality of acid-base homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T18:37:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032369
name: Alkalemia
def: "An abnormally high blood pH (usually defined as 7.41 or above)." [PMID:24381489]
comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
is_a: HP:0004360 ! Abnormality of acid-base homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T18:42:24Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032370
name: Blood group A
def: "ABO phenotype A, corresponding to the genotype AO or AA." []
is_a: HP:0032224 ! ABO blood group
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T18:59:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032371
name: Isoleucinuria
def: "An increased concentration of isoleucine in the urine." [UCDenver:tjcallahan]
synonym: "Hyperisoleucinuria" EXACT []
is_a: HP:0008353 ! Neutral hyperaminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T19:14:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032372
name: Increased peripheral blast count
def: "An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications." []
synonym: "Elevated blast count" EXACT []
synonym: "Increased peripheral myeloblast count" EXACT []
is_a: HP:0011893 ! Abnormal leukocyte count
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:28:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032373
name: Duffy blood group
def: "The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-." [PMID:19480920]
comment: FY has two major codominant alleles, FYA and FYB, which result from a SNP (125G>A), and the corresponding Fya and Fyb antigens differ by a single amino acid (G42D). Individuals who are homozygous for a -33T>C SNP in the erythroid promoter region of the FYB allele have the phenotype Fy(a-b-) and do not express Duffy antigens on their RBCs.
is_a: HP:0032223 ! Blood group
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:37:17Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032374
name: Duffy Fya positivity
def: "Presence of the Duffy Fya antigen." [PMID:19480920]
is_a: HP:0032373 ! Duffy blood group
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:40:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032375
name: Duffy Fyb positivity
def: "Presence of the Duffy Fyb antigen." [PMID:19480920]
is_a: HP:0032373 ! Duffy blood group
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:42:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032376
name: Anti-beta 2 glycoprotein I antibody positivity
def: "Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS)." [PMID:28105326]
comment: Beta2GPI was identified as a primary target of autoantibodies in patients with APS. Beta2GPI is a single-chain protein containing five repeating sequences or domains. Domain V is essential for binding to anionic phospholipid membranes, whereas domain I sticks out into the extracellular space where interactions with other proteins/antibodies can take place 1.
synonym: "Anti-B2GPI positivity" EXACT HP:0045077 []
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:47:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032377
name: Increased urinary orosomucoid
def: "An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism." [PMID:25711902]
synonym: "Increased urinary alpha-1-acid glycoprotein" EXACT []
is_a: HP:0000093 ! Proteinuria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:04:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032378
name: Immediate-type hypersensitivity drug reaction
def: "Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement." [PMID:24286446]
comment: Hypersensitivity is broadly defined as objectively reproducible symptoms or signs, initiated by exposure to a defined stimulus at a dose tolerated by normal subjects and may be caused by immunologic (allergic) and non-immunologic mechanisms.
is_a: HP:0100326 ! Immunologic hypersensitivity
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:43:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032379
name: Polymorphous light eruption
def: "The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces." [PMID:21442060]
synonym: "Sun allergy" EXACT layperson []
is_a: HP:0000992 ! Cutaneous photosensitivity
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:52:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032381
name: Hydroa vacciniforme
def: "In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation." [PMID:21442060]
synonym: "Acute vesiculation and crusting and scarring following sun exposure" EXACT []
is_a: HP:0000992 ! Cutaneous photosensitivity
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:55:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032382
name: Uniparental disomy
def: "Inheritance of both homologues of a chromosome pair from the same parent." []
comment: UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD. {xref="PMID:29137034"}
is_a: HP:0000005 ! Mode of inheritance
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:58:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032383
name: Uniparental heterodisomy
def: "A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted." [PMID:25547535]
is_a: HP:0032382 ! Uniparental disomy
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:04:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032384
name: Uniparental isodisomy
def: "A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted." [PMID:25547535]
is_a: HP:0032382 ! Uniparental disomy
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:05:18Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032385
name: Abnormal circulating transferrin level
def: "Any deviation from the normal concentration of transferrin in the blood circulation." []
is_a: HP:0025465 ! Abnormal circulating beta globulin level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:33:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032386
name: Elevated transferrin level
def: "An abnormally increased concentration of transferrin in the blood circulation." [PMID:19787826]
is_a: HP:0032385 ! Abnormal circulating transferrin level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:34:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032387
name: Reduced transferrin level
def: "An abnormally decreased concentration of transferrin in the blood circulation." []
is_a: HP:0032385 ! Abnormal circulating transferrin level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:35:44Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032388
name: Periventricular nodular heterotopia
def: "Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple." [COST:neuromig, PMID:22427329]
is_a: HP:0007165 ! Periventricular heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:59:43Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032389
name: Periventricular laminar heterotopia
def: "A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral." [COST:neuromig, PMID:22427329, PMID:22473091]
is_a: HP:0007165 ! Periventricular heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:00:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032390
name: Periventricular ribbonlike heterotopia
def: "Heterotopia that forms a continuous wavy line along the ventricular wall." [COST:neuromig, PMID:22315185]
is_a: HP:0007165 ! Periventricular heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:02:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032391
name: Subcortical heterotopia
def: "A form of heterotopia were the mislocalized gray matter is located deep within the white matter." [COST:neuromig]
is_a: HP:0002282 ! Gray matter heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:03:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032392
name: Nodular subcortical heterotopia in peritrigonal regions
def: "Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei." [COST:neuromig, PMID:23246003, PMID:29654772]
is_a: HP:0032391 ! Subcortical heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:05:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032393
name: Diffuse ribbon-like subcortical heterotopia
def: "Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex." [COST:neuromig, PMID:24859200]
is_a: HP:0032391 ! Subcortical heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:06:38Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032394
name: Mesial parasagittal subcortical heterotopia
def: "Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia." [COST:neuromig, PMID:22578326]
comment: This pattern is assocatied with Chudlely-McCullough syndrome.
is_a: HP:0032391 ! Subcortical heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:07:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032395
name: Curvilinear subcortical heterotopia
def: "Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia." [COST:neuromig, PMID:22427329]
synonym: "Giant heterotopia" EXACT []
is_a: HP:0032391 ! Subcortical heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:08:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032396
name: Transmantle columnar heterotopia
def: "Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma." [COST:neuromig, PMID:22427329]
is_a: HP:0032391 ! Subcortical heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:09:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032397
name: Citrullinuria
def: "An increased concentration of citrulline in the urine." [PMID:29695388, UCDenver:tjcallahan]
comment: Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle.
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:59:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032398
name: Dysgyria
def: "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation." [COST:neuromig, PMID:26130693, PMID:26564436]
is_a: HP:0002269 ! Abnormality of neuronal migration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:04:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032399
name: Dysgyria with normal cortical thickness
def: "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex." [COST:neuromig]
is_a: HP:0032398 ! Dysgyria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:05:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032400
name: Dysgyria with thickened cortex
def: "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria." [COST:neuromig]
is_a: HP:0032398 ! Dysgyria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:06:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032401
name: Aspartic aciduria
def: "A increased concentration of aspartic acid in the urine." [PMID:21123949, UCDenver:tjcallahan]
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:47:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032403
name: Asparaginuria
def: "An increased concentration of asparagine in the urine." [UCDenver:tjcallahan]
synonym: "Increased level of asparagine in urine" EXACT []
synonym: "Increased urine asparagine level" EXACT []
is_a: HP:0008353 ! Neutral hyperaminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:59:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032404
name: Testicular mass
def: "An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer." [PMID:9490992]
comment: More precise HPO terms should be used if possible. This term should be used only if the etiology has not yet been clarified.
is_a: HP:0000035 ! Abnormal testis morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T18:42:56Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032405
name: Increased urinary phosphoserine level
def: "An increased level of phosphoserine in the urine." [PMID:7688003, UCDenver:tjcallahan]
comment: O-phosphoserine is a serine derivative that is serine substituted at the oxygen atom by a phosphono group.
synonym: "Increased level of phosphoserine in urine" EXACT []
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:26:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032406
name: Unilateral perisylvian polymicrogyria
def: "A type of perisylvian polymicrogyria that largely affects one side of the brain." [COST:neuromig, PMID:20301504]
is_a: HP:0012650 ! Perisylvian polymicrogyria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:45:13Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032407
name: Bilateral perisylvian polymicrogyria
def: "A type of perisylvian polymicrogyria that affects both sides of the brain." [COST:neuromig, PMID:20301504]
is_a: HP:0012650 ! Perisylvian polymicrogyria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:47:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032408
name: Breast lump
def: "A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician." [PMID:15887452]
comment: The differential diagnosis includes fibrocystic disease, fibroadenomas, breast cancer, mammary duct ectasia, and intraductal papilloma.
is_a: HP:0031093 ! Abnormal breast morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:59:33Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032409
name: Subcortical band heterotopia
def: "A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum." [COST:neuromig, PMID:28413838]
is_a: HP:0001339 ! Lissencephaly
is_a: HP:0032391 ! Subcortical heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:08:16Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032410
name: Bilateral generalized polymicrogyria
def: "Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter." [COST:neuromig, PMID:20301504]
synonym: "Diffuse polymicrogyria" EXACT []
is_a: HP:0002126 ! Polymicrogyria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:11:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032411
name: Posterior predominant subcortical band heterotopia
def: "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex." [COST:neuromig]
synonym: "Occipital subcortical band heterotopia" EXACT []
synonym: "Subcortical band heterotopia posterior predominant" EXACT []
is_a: HP:0032409 ! Subcortical band heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:13:52Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032412
name: Anterior predominant subcortical band heterotopia
def: "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes." [COST:neuromig]
synonym: "Frontal subcortical band heterotopia" EXACT []
synonym: "Subcortical band heterotopia anterior predominant" EXACT []
is_a: HP:0032409 ! Subcortical band heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:22:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032413
name: Diffuse subcortical band heterotopia
def: "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain." [COST:neuromig]
synonym: "Subcortical band heterotopia diffuse" EXACT []
is_a: HP:0032409 ! Subcortical band heterotopia
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:25:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032414
name: Hydrixylysinuria
def: "The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens." [UCDenver:tjcallahan]
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:34:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032415
name: Parasagittal parieto-occipital polymicrogyria
def: "Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex." [COST:neuromig, PMID:20301504, PMID:21127420]
is_a: HP:0002126 ! Polymicrogyria
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T13:20:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032416
name: Retinal microaneurysm
def: "A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells." [ORCID:0000-0002-6601-2165, PMID:23371018, PMID:24425852]
comment: A microaneurysm may be a focal bulge or have a saccular, fusiform, or mixed appearance. Multiple microaneurysm may be observed in the fundus.
is_a: HP:0008046 ! Abnormal retinal vascular morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T13:58:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032417
name: Periglomerular fibrosis
def: "Periglomerular fibrosis is defined as glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane." [PMID:21204717]
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T14:20:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032418
name: Abnormal HDL subfraction concentration
def: "An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm)." [PMID:17291473]
comment: Traditionally, HDL is separated into two major subclasses (HDL2 and HDL3), but depending on the separation method used, u[ to 10 subfractions have been reported.
is_a: HP:0031888 ! Abnormal HDL cholesterol concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:28:34Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032419
name: Abnormal HDL2a concentration
def: "Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm." [PMID:17291473]
is_a: HP:0032418 ! Abnormal HDL subfraction concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:30:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032420
name: Increased HDL2a concentration
def: "An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm." [PMID:17291473]
is_a: HP:0032419 ! Abnormal HDL2a concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:40:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032421
name: Decreased HDL2a concentration
def: "A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm." [PMID:17291473]
is_a: HP:0032419 ! Abnormal HDL2a concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:41:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032422
name: Abnormal HDL2b concentration
def: "Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm." [PMID:17291473]
is_a: HP:0032418 ! Abnormal HDL subfraction concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:45:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032423
name: Decreased HDL2b concentration
def: "A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm." [PMID:17291473]
is_a: HP:0032422 ! Abnormal HDL2b concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:46:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032424
name: Increased HDL2b concentration
def: "An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm." [PMID:17291473]
is_a: HP:0032422 ! Abnormal HDL2b concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:46:32Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032425
name: Abnormal HDL3a concentration
def: "Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm." [PMID:17291473]
is_a: HP:0032418 ! Abnormal HDL subfraction concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:48:59Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032426
name: Abnormal HDL3b concentration
def: "Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm." [PMID:17291473]
is_a: HP:0032418 ! Abnormal HDL subfraction concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:49:05Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032427
name: Abnormal HDL3c concentration
def: "Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm." [PMID:17291473]
is_a: HP:0032418 ! Abnormal HDL subfraction concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:49:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032428
name: Increased HDL3a concentration
def: "An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm." [PMID:17291473]
is_a: HP:0032425 ! Abnormal HDL3a concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:49:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032429
name: Decreased HDL3a concentration
def: "A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm." [PMID:17291473]
is_a: HP:0032425 ! Abnormal HDL3a concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:49:28Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032430
name: Increased HDL3b concentration
def: "An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm." [PMID:17291473]
is_a: HP:0032426 ! Abnormal HDL3b concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:51:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032431
name: Decreased HDL3b concentration
def: "A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm." [PMID:17291473]
is_a: HP:0032426 ! Abnormal HDL3b concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:51:15Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032432
name: Increased HDL3c concentration
def: "An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm." [PMID:17291473]
is_a: HP:0032427 ! Abnormal HDL3c concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:51:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032433
name: Decreased HDL3c concentration
def: "A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm." [PMID:17291473]
is_a: HP:0032427 ! Abnormal HDL3c concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:51:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032434
name: Delayed umbilical cord separation
def: "Separation of the umbilical cord occurs at an abnormally late timepoint." [PMID:11483823]
comment: The umbilical cord of the newborn usually separates and sloughs by the end of the second postnatal week. However, a wide variation exists in the age at which cord separation occurs in healthy infants with regard to ethnicity, geographical location, and methods of cord care. A marked delay in cord separation raises the suspicion of leukocyte adhesion deficiency, a rare disorder leading to defective neutrophil function.
is_a: HP:0010881 ! Abnormality of the umbilical cord
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T15:01:57Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032435
name: Neonatal omphalitis
def: "An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period." [PMID:30020710]
comment: The umbilical cord stump then gradually dries and typically falls off within 5 to 15 days. Both skin and enteric bacteria may colonize the devitalized tissue of the stump and lead to infection. Omphalitis is, therefore, a polymicrobial infection and the most common pathogens are Staphylococcus aureus, Streptococcus pyogenes, and gram-negative bacteria such as Escherichia coli, Klebsiella pneumoniae, and Proteus mirabilis.
synonym: "Omphalitis" EXACT []
is_a: HP:0010881 ! Abnormality of the umbilical cord
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T15:07:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032436
name: Abnormal C-reactive protein level
def: "Any deviation from the normal concentration of C-reactive protein in the blood circulation." []
comment: C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation.
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T15:10:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032437
name: Reduced C-reactive protein level
def: "An abnormal decrease of the C-reactive protein level in serum." [PMID:17852082, UCDenver:tjcallahan]
is_a: HP:0032436 ! Abnormal C-reactive protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T15:11:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032438
name: Platelet anisocytosis
def: "Abnormally increased variability in the size of platelets." [PMID:18065693]
is_a: HP:0011875 ! Abnormal platelet morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:06:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032439
name: Airborn particle hypersensitivity
def: "An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen." [PMID:30408667, PMID:8077583]
comment: Particles can be defined as any small bits of material or droplets either inorganic or organic, viable or nonviable, that can become airborne. They can range from small molecules less than 0.001 micrometer to pollens and spores ranging between 2 and 50 micrometers and very large visible dust particles in the range of 1000 micrometers. Particles can also assume many shapes including long, fibrous varieties with a length greater than three times diameter, spheres, oddly shaped or irregularly shaped material, oblong, crescent-shaped varieties, or other peculiar shapes, such as certain pollen grains and mold spores.
is_a: HP:0100326 ! Immunologic hypersensitivity
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:15:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032440
name: Blood group B
def: "ABO phenotype B, corresponding to the genotype BO or BB." []
is_a: HP:0032224 ! ABO blood group
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:34:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032441
name: Blood group AB
def: "ABO phenotype AB, corresponding to the genotype AB." []
is_a: HP:0032224 ! ABO blood group
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:37:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032442
name: Blood group O
def: "ABO phenotype O, corresponding to the genotype OO." []
is_a: HP:0032224 ! ABO blood group
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:37:48Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032443
name: Past medical history
def: "In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc." []
comment: This subontology of the HPO is not intended to provide all needed terms to describe the past medical history, but rather to be combined with other ontologies such as MONDO in order to capture information that is often needed to properly assess phenotypic findings related to a presenting medical problem.
is_a: HP:0000001 ! All
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:39:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032444
name: Status post organ transplantation
def: "The affected individual has received an organ transplant previous to the current medical encounter." []
synonym: "s/p organ transplantation" EXACT []
is_a: HP:0032443 ! Past medical history
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:49:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032445
name: Pulmonary cyst
def: "A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid." [PMID:20028879]
comment: The thin wall of cystic lesions differentiates them from cavitary processes, which have thicker and irregular walls and will not be discussed in this article. On chest radiographs, findings of a cyst are often subtle, consisting of lucencies and sometimes linear opacities. An air-fluid level can improve the visibility of a cyst and may suggest infection. For the investigation of cysts, CT is substantially more sensitive than chest radiography, showing a cyst as a ringlike lucency surrounded by a thin wall.
synonym: "Lung cyst" EXACT []
is_a: HP:0002088 ! Abnormal lung morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T17:31:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032446
name: Pulmonary bulla
def: "A cystic space with a diameter of one cm or more. Bullae can reach substantial size and occupy an entire lobe." [PMID:20028879, PMID:24106540]
comment: Blebs and bullae are commonly subpleural and are mostly seen in both upper lobes in patients with coexisting centrilobular and paraseptal emphysema.
is_a: HP:0032445 ! Pulmonary cyst
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T17:45:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032447
name: Pulmonary bleb
def: "A bleb is a cystic space one cm or less in diameter." [PMID:20028879]
is_a: HP:0032445 ! Pulmonary cyst
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T17:47:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032448
name: Achlorhydria
def: "A condition in which production of hydrochloric acid in the stomach is absent." [PMID:29939570]
comment: Gastric acid is the fluid secreted by the stomach. It is composed of hydrochloric acid, potassium chloride, and sodium chloride. Hydrochloric acid plays an integral part in the digestion of food and protects our body against pathogens ingested with food or water. The parietal cells lining the stomach are mainly involved in its production.
is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T17:54:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032449
name: Abnormal dermoepidermal hemidesmosome morphology
def: "An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane." [PMID:26017636]
comment: Hemidesmosomes (HDs) are highly specialized integrin-mediated epithelial attachment structures that make cells firmly adhere to the extracellular matrix by establishing a link between the underlying basement membrane (BM) and the internal mechanical stress-resilient keratin intermediate filament (IF) network. Although HDs are defined by their ultrastructural appearance, two types of HDs, type I and II, can be distinguished on the basis of their protein components. Classical type I HDs, found in stratified and pseudostratified epithelia, for example in the epidermis, consist in five major components, namely integrin alpha6beta4, plectin isoform 1a (P1a), tetraspanin CD151, bullous pemphigoid antigen (BPAG)1 isoform e (BPAG1e, also called BP230) and BPAG2 (also called BP180 or type XVII collagen). Type II HDs, found in simple epithelia such as that of the intestine, consist of integrin alpha6beta4 and plectin and lack the two BP antigens.
is_a: HP:0031538 ! Abnormal dermoepidermal junction morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T18:24:45Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032450
name: Positive blood arsenic test
def: "Detection of arsenic in the blood circulation." []
is_a: HP:0410172 ! Blood xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T18:42:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032451
name: Oral melanotic macule
def: "Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented." [PMID:24034073, PMID:26538887]
comment: Melanotic macules very rarely, if ever, present larger than one centimeter in diameter. Although these are innocuous lesions, a biopsy is usually warranted for diagnosis since mucosal melanoma can mimic the appearance of a melanotic macule. Melanotic macules are caused by functional hyperactivity of the regional melanocytes ie there is increased melanin production. Histologically, this is evidenced by abundant melanin pigmentation within the basal epithelial cell layer with melanin incontinence in the superficial portions of the submucosa. Importantly, there is no increase in melanocyte number. If there is evidence of melanocytic hyperplasia, it should be diagnosed as such and the lesion would likely warrant complete surgical removal. It is possible that melanocytic hyperplasia may potentially herald the development of malignant melanoma.
synonym: "Melanotic macule of oral mucosa" EXACT []
is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:02:36Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032452
name: Oral melanoacanthoma
def: "Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions." [PMID:24034073]
comment: Oral melanoacanthoma is a relatively uncommon melanocytic lesion that may cause rapid, diffuse, and dark pigmentation of a large mucosal area. However, this is an innocuous pathology that is often self-limiting and may spontaneously resolve, with or without surgical intervention.
is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:04:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032453
name: Abnormal lip pigmentation
def: "Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal." []
is_a: HP:0000159 ! Abnormal lip morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:06:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032454
name: Labial melanotic macule
def: "Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture." [PMID:24034073, PMID:26538887]
synonym: "Labial melanotic freckle" EXACT []
is_a: HP:0032453 ! Abnormal lip pigmentation
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:08:58Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032455
name: Reduced granulocyte CD18 level
def: "Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry." [PMID:20142805]
comment: The beta2 integrin (CD18) expressed on leukocytes can pair with several alpha integrin subunits, and each alpha-beta pairing can bind a variety of ligands, including the counterreceptors ICAM-1, -2 and -3, fibrinogen, the complement fragment iC3b, and polysaccharides.
is_a: HP:0031553 ! Reduced granulocyte surface marker level
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:13:04Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032456
name: Unlayered lissencephaly
def: "A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter." [COST:neuromig]
is_a: HP:0001339 ! Lissencephaly
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:17:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032457
name: 2-3-layered lissencephaly
def: "Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity." [COST:neuromig, PMID:28440899]
is_a: HP:0001339 ! Lissencephaly
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:53:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032458
name: Narrowing of medullary canal
def: "A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located." [PMID:15894597]
synonym: "Medullary cavity obliteration" EXACT []
synonym: "Narrowing of bone marrow canal" EXACT []
synonym: "Narrowing of bone medullary canal" EXACT []
synonym: "Narrowing of the marrow cavity" EXACT []
is_a: HP:0011842 ! Abnormality of skeletal morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:27:09Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032459
name: Abnormal phosphoribosylpyrophosphate synthetase activity
def: "Any deviation from the normal activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:4200723]
comment: Intracellular availability of the sugar phosphate, 5-phosphoribosyl 1-pyrophosphate (PP-ribose-P), is an important factor in regulation of the rate of purine synthesis de novo. PP-ribose- P synthetase (EC2.7.6.1) is an enzyme that catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. An increased activity of PP-ribose- P synthetase can be associated with increased PP-ribose-P concentrations and increased purine biosynthetic rates. Increased purine production in turn can be associated with gout.
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:34:47Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032460
name: Decreased phosphoribosylpyrophosphate synthetase activity
def: "Abnormally reduced activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:17701900, PMID:20301731]
comment: It is difficult to assay PRS1 enzyme activity separately from that of the other two isoforms (PRS2 and PRS3), a decrease in PRS enzyme activity may be assumed to reflect decreased activity of PRS1, not PRS2 or PRS3.
is_a: HP:0032459 ! Abnormal phosphoribosylpyrophosphate synthetase activity
property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:35:02Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032461
name: Tiger-tail banding
def: "Ab abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding." [PMID:15692466]
is_a: HP:0009887 ! Abnormality of hair pigmentation
property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:43:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032462
name: Increased circulating palmitate level
def: "An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation." [PMID:29167646]
comment: Palmitic acid (16:0, PA) is the most common saturated fatty acid found in the human body and can be provided in the diet or synthesized endogenously from other fatty acids, carbohydrates and amino acids. PA represents 20-30% of total fatty acids (FA) in membrane phospholipids, and adipose triacylglycerols (TAG).
is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:54:11Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032463
name: Reduced circulating fibronectin level
def: "A reduction below the normal concentration of fibronectin the the blood circulation." [PMID:27185500]
comment: Fibronectin is a large vertebrate glycoprotein that is found in soluble and insoluble forms and involved in diverse processes. Protomeric fibronectin is a dimer of subunits, each of which comprises 29-31 modules - 12 type I, two type II and 15-17 type III. Plasma fibronectin is secreted by hepatocytes and circulates in a compact conformation before it binds to cell surfaces, converts to an extended conformation and is assembled into fibronectin fibrils.
synonym: "Decreased plasma fibronectin" EXACT []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T18:08:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032464
name: Ureteral hypoplasia
def: "Underdevelopment of the ureter." [ORCID:0000-0001-5208-3432]
synonym: "Hypoplasia of the ureter" EXACT []
synonym: "Ureter hypoplasia" EXACT []
is_a: HP:0000069 ! Abnormality of the ureter
property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:26:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032465
name: Bladder trabeculation
def: "Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface." [ORCID:0000-0001-5208-3432, PMID:28904941]
comment: Bladder trabeculation is caused by morphological and histological changes due to hypertrophy and hyperplasia of the bladder muscle and the infiltration of the connective tissue.
synonym: "Trabecular bladder" EXACT []
is_a: HP:0025487 ! Abnormality of bladder morphology
property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:28:51Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032466
name: Aplasia of the olfactory bulb
def: "Lack of formation (congenital absence) of the olfactory bulb." [ORCID:0000-0001-5208-3432, PMID:27863011]
comment: Olfactory bulb aplasia causes anosmia, a complete loss of the sense of smell.
synonym: "Aplastic olfactory bulb" EXACT []
synonym: "Olfactory bulb aplasia" EXACT []
is_a: HP:0040327 ! Abnormal morphology of the olfactory bulb
property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:33:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032467
name: Past obstetric history
def: "Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies." []
synonym: "Maternal medical history" EXACT []
is_a: HP:0032443 ! Past medical history
property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:46:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032468
name: History of stillbirth
def: "One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation)." []
is_a: HP:0032467 ! Past obstetric history
property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:53:23Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032469
name: Anti-asialoglycoprotein receptor antibody positivity
def: "Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation." [PMID:26000135]
comment: Asialoglycoprotein receptor (ASGPR) is a C-type lectin, primary expressed on the sinusoidal surface of the hepatocyte. ASGPR autoantibodies is considered specific markers of autoimmune hepatitis.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T10:39:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032470
name: Monilethrix
def: "The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture." [PMID:22884362]
comment: This feature is often accompanied by hair loss.
is_a: HP:0003328 ! Abnormal hair laboratory examination
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T10:47:20Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032471
name: Focal polymicrogyria
def: "Polymicrogyria affecting one or multiple small areas of the cerebral cortex." [COST:neuromig, PMID:20198472, PMID:22427329]
is_a: HP:0002126 ! Polymicrogyria
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T10:52:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032472
name: Abnormal urine urobilinogen level
def: "An abnormal concentration of urobilinogen in the urine." []
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T11:53:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032473
name: Decreased urine urobilinogen
def: "An abnormally reduced concentration of urobilinogen in the urine." []
comment: Urinary urobilinogen can be reduced or absent if reduced amounts of bilirubin are excreted into the intestinal tract.
is_a: HP:0032472 ! Abnormal urine urobilinogen level
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T11:54:30Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032475
name: 6-layered lissencephaly
comment: A malformation of the pachygyria-agyria spectrum. A 6-layered cortex is characterized by bands of ectopic neurons of varying shape and size organized in columns or clusters, lying in a reduced rim of white matter. Layers I and II of the cortex are well defined, and pyramidal and polymorphic neurons of layers III, IV, V, and VI are found more or less in their appropriate location. {xref="COST:neuromig"}
is_a: HP:0001339 ! Lissencephaly
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:02:50Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032476
name: Abnormal circulating vitamin B6 level
def: "An abnormal concentration of vitamin B6 in the blood circulation." []
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:06:29Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032477
name: Elevated circulating vitamin B6 level
def: "An abnormally increased concentration of vitamin B6 in the blood circulation." []
is_a: HP:0032476 ! Abnormal circulating vitamin B6 level
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:08:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032478
name: Lateral spinal meningocele
def: "Protrusion of the arachnoid and dura through spinal foramina." [PMID:24311540]
is_a: HP:0002435 ! Meningocele
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:13:41Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032479
name: Preimplantation lethality
def: "It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development." [PMID:27545678]
synonym: "Preimplantation embryonic lethality" EXACT []
is_a: HP:0001197 ! Abnormality of prenatal development or birth
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:33:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032480
name: Beta-aminoisobutyric aciduria
def: "An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine." [PMID:30823446]
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:49:03Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032481
name: Abnormal pituitary glycoprotein hormone alpha subunit level
def: "Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081)." []
comment: This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:31:49Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032482
name: Decreased pituitary glycoprotein hormone alpha subunit level
def: "An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081)." []
comment: This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.
synonym: "Decreased pituitary glycoprotein alpha subunit level" EXACT []
synonym: "Decreased pituitary glycoprotein polypeptide alpha subunit level" EXACT []
is_a: HP:0032481 ! Abnormal pituitary glycoprotein hormone alpha subunit level
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:33:21Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032483
name: Abnormal fecal test result
def: "Abnormal level of metabolite or other abnormal analyte result in a stool test." []
is_a: HP:0001939 ! Abnormality of metabolism/homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:37:42Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032484
name: Elevated fecal sodium
def: "An elevated concentration of sodium in feces." [PMID:26358773]
is_a: HP:0032483 ! Abnormal fecal test result
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:38:39Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032485
name: Abnormal fecal osmolality
def: "Abnormal concentration of feces as assessed by the total number of solute particles per kilogram." []
is_a: HP:0032483 ! Abnormal fecal test result
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:40:55Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032486
name: Elevated fecal osmolality
def: "Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram." []
is_a: HP:0032485 ! Abnormal fecal osmolality
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:41:54Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032487
name: Reduced fecal osmolality
def: "Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram." []
is_a: HP:0032485 ! Abnormal fecal osmolality
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:42:10Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032488
name: Abnormal fecal pH
def: "Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline." []
is_a: HP:0032483 ! Abnormal fecal test result
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:44:26Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032489
name: Elevated fecal pH
def: "Abnormally high fecal pH, i.e., abnormal alkalinity of feces." []
is_a: HP:0032488 ! Abnormal fecal pH
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:45:31Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032490
name: Decreased fecal pH
def: "Abnormally low fecal pH, i.e., abnormal acidity of feces." []
is_a: HP:0032488 ! Abnormal fecal pH
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:46:07Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032491
name: Increased circulating argininosuccinic acid
def: "An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation." [PMID:22241104, UCDenver:tjcallahan]
comment: Argininosuccinic acid is an intermediate in the urea cycle.
is_a: HP:0003112 ! Abnormality of serum amino acid level
property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T12:01:22Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032492
name: Anti-myelin oligodendrocyte glycoprotein antibody positivity
def: "Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein." [OHSU:jpgourdine, PMID:28533781]
comment: Myelin oligodendrocyte glycoprotein (MOG), a member of the immunoglobulin (Ig) superfamily, is a myelin protein solely expressed at the outermost surface of myelin sheaths and oligodendrocyte membranes. MOG Abs can be found in a subset of predominantly pediatric patients with acute disseminated encephalomyelitis, aquaporin-4 seronegative neuromyelitis optica spectrum disorders, monophasic or recurrent isolated optic neuritis, or transverse myelitis, in atypical multiple sclerosis, and in N-methyl-d-aspartate receptor-encephalitis.
is_a: HP:0030057 ! Autoimmune antibody positivity
property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T10:32:12Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032493
name: Increased circulating trypsinogen
def: "An abnormally high concentration of trypsinogen in the blood circulation." [PMID:27131402]
comment: An elevated immunoreactive trypsinogen test can be observed in infants with cystic fibrosis.
synonym: "Increased immunoreactive trypsinogen" EXACT []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T10:39:08Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032495
name: Abnormal terminal:vellus ratio
def: "A deviation from the normal proportion of terminal to vellus hairs." [PMID:12894995]
comment: Scalp hairs comprise large terminal hairs and small vellus hairs. Terminal hairs are conspicuous and exceed 0.03 mm in diameter and 1 cm in length, and may be pigmented and medullated. Vellus hairs are inconspicuous and are 0.03 mm or less in diameter and less than 1 cm in length and lack melanin and medulla.
is_a: HP:0003328 ! Abnormal hair laboratory examination
property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T11:32:25Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032496
name: Elevated terminal:vellus ratio
def: "An increased proportion of terminal hairs compared to vellus hairs." [PMID:23044568]
comment: A terminal:vellus ratio over 7:1 is characteristic of chronic telogen effluvium.
is_a: HP:0032495 ! Abnormal terminal:vellus ratio
property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T11:35:40Z xsd:dateTime
created_by: peter

[Term]
id: HP:0032497
name: Reduced terminal:vellus ratio
comment: A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. {xref="PMID:23044568"}
comment: An decreased proportion of terminal hairs compared to vellus hairs.
is_a: HP:0032495 ! Abnormal terminal:vellus ratio
property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T11:38:06Z xsd:dateTime
created_by: peter

[Term]
id: HP:0040004
name: Abnormality of corneal shape
xref: UMLS:C4022500
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: HPO:skoehler

[Term]
id: HP:0040006
name: Mortality/Aging
xref: UMLS:C4022499
is_a: HP:0031797 ! Clinical course
created_by: HPO:skoehler

[Term]
id: HP:0040007
name: Absent pigmentation of chest
def: "Lack of skin pigmentation (coloring) of the chest." [HPO:skoehler]
synonym: "Lack of skin coloring on chest" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022498
is_a: HP:0200098 ! Absent skin pigmentation
created_by: HPO:skoehler

[Term]
id: HP:0040008
name: Aplasia of facial bones
synonym: "Absence of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of facial bones" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of facial skeleton" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing facial bones" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1385254
xref: UMLS:C4022497
xref: UMLS:C4280300
xref: UMLS:C4280301
is_a: HP:0011821 ! Abnormality of facial skeleton
created_by: HPO:skoehler

[Term]
id: HP:0040009
name: Hyperparakeratosis
def: "Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum." []
xref: SNOMEDCT_US:125554003
xref: UMLS:C1265968
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0001036 ! Parakeratosis
created_by: HPO:skoehler

[Term]
id: HP:0040010
name: Small posterior fossa
xref: UMLS:C4022496
is_a: HP:0000932 ! Abnormality of the posterior cranial fossa
created_by: HPO:skoehler

[Term]
id: HP:0040011
name: Flat posterior fossa
xref: UMLS:C4022495
is_a: HP:0000932 ! Abnormality of the posterior cranial fossa
created_by: HPO:skoehler

[Term]
id: HP:0040012
name: Chromosome breakage
def: "Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents." [HPO:probinson, PMID:12407692]
synonym: "High frequency of chromosome breaks in lymphocytes" EXACT []
synonym: "Increased chromosomal breakage" EXACT []
synonym: "Increased chromosomal breakage rate" EXACT []
synonym: "Multiple chromosomal breaks" EXACT []
synonym: "Tendency to chromosomal breakage" EXACT []
xref: MSH:D019457
xref: UMLS:C0376628
is_a: HP:0003220 ! Abnormality of chromosome stability
created_by: HPO:skoehler

[Term]
id: HP:0040013
name: Decreased mitochondrial number
xref: UMLS:C4022493
is_a: HP:0012102 ! Abnormal mitochondrial number
created_by: HPO:skoehler

[Term]
id: HP:0040014
name: Increased mitochondrial number
xref: UMLS:C4022492
is_a: HP:0012102 ! Abnormal mitochondrial number
created_by: HPO:skoehler

[Term]
id: HP:0040015
name: Increased activity of mitochondrial respiratory chain
xref: UMLS:C4022491
is_a: HP:0011922 ! Abnormal activity of mitochondrial respiratory chain
created_by: HPO:skoehler

[Term]
id: HP:0040016
name: Prominent coccyx
synonym: "Prominent tailbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022490
is_a: HP:0008519 ! Abnormality of the coccyx
created_by: HPO:skoehler

[Term]
id: HP:0040017
name: Protruding coccyx
synonym: "Protruding tailbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022489
is_a: HP:0008519 ! Abnormality of the coccyx
created_by: HPO:skoehler

[Term]
id: HP:0040018
name: Clinodactyly of hallux
synonym: "Curvature of big toe" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022488
xref: UMLS:C4280299
is_a: HP:0001863 ! Toe clinodactyly
is_a: HP:0010051 ! Deviation of the hallux
created_by: HPO:skoehler

[Term]
id: HP:0040019
name: Finger clinodactyly
synonym: "Curvature of finger" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:17268007
xref: UMLS:C0265610
xref: UMLS:C4280298
is_a: HP:0004097 ! Deviation of finger
is_a: HP:0030084 ! Clinodactyly
created_by: HPO:skoehler

[Term]
id: HP:0040020
name: Radial deviation of the 5th finger
xref: UMLS:C4022487
is_a: HP:0009179 ! Deviation of the 5th finger
is_a: HP:0009466 ! Radial deviation of finger
created_by: HPO:skoehler

[Term]
id: HP:0040021
name: Radial deviation of the thumb
xref: UMLS:C2168996
is_a: HP:0009466 ! Radial deviation of finger
is_a: HP:0009603 ! Deviation of the thumb
created_by: HPO:skoehler

[Term]
id: HP:0040022
name: Clinodactyly of the 2nd finger
synonym: "Curvature of index finger" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022486
is_a: HP:0009468 ! Deviation of the 2nd finger
is_a: HP:0040019 ! Finger clinodactyly
created_by: HPO:skoehler

[Term]
id: HP:0040023
name: Clinodactyly of the thumb
synonym: "Curvature of thumb" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1856888
xref: UMLS:C4280297
is_a: HP:0009603 ! Deviation of the thumb
is_a: HP:0040019 ! Finger clinodactyly
created_by: HPO:skoehler

[Term]
id: HP:0040024
name: Clinodactyly of the 3rd finger
synonym: "Curvature of middle finger" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022485
xref: UMLS:C4280296
is_a: HP:0009317 ! Deviation of the 3rd finger
is_a: HP:0040019 ! Finger clinodactyly
created_by: HPO:skoehler

[Term]
id: HP:0040025
name: Clinodactyly of the 4th finger
synonym: "Curvature of ring finger" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022484
xref: UMLS:C4280295
is_a: HP:0009273 ! Deviation of the 4th finger
is_a: HP:0040019 ! Finger clinodactyly
created_by: HPO:skoehler

[Term]
id: HP:0040030
name: Chorioretinal hypopigmentation
xref: UMLS:C4022483
is_a: HP:0007661 ! Abnormality of chorioretinal pigmentation
created_by: HPO:skoehler

[Term]
id: HP:0040031
name: Chorioretinal hyperpigmentation
xref: UMLS:C4022482
is_a: HP:0007661 ! Abnormality of chorioretinal pigmentation
created_by: HPO:skoehler

[Term]
id: HP:0040032
name: Hypoplasia of the upper eyelids
synonym: "Decreased size of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic upper eyelid" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Short upper eyelid" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Small upper eyelid" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022481
is_a: HP:0430009 ! Hypoplasia of eyelid
created_by: HPO:skoehler

[Term]
id: HP:0040033
name: Aplasia/Hypoplasia of the fifth metatarsal bone
synonym: "Absent/small 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022480
is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones
is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone
created_by: HPO:skoehler

[Term]
id: HP:0040034
name: Abnormality of the second metatarsal bone
synonym: "Abnormality of the 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022479
is_a: HP:0001832 ! Abnormal metatarsal morphology
created_by: HPO:skoehler

[Term]
id: HP:0040035
name: Abnormality of the fourth metatarsal bone
synonym: "Abnormality of the 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022478
is_a: HP:0001832 ! Abnormal metatarsal morphology
created_by: HPO:skoehler

[Term]
id: HP:0040036
name: Onychogryposis of fingernail
def: "Thickened fingernails." []
synonym: "Overgrowth and curving of fingernail" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022477
is_a: HP:0001805 ! Onychogryposis
created_by: HPO:skoehler

[Term]
id: HP:0040037
name: obsolete Thin fingernail (obsolete)
is_obsolete: true
replaced_by: HP:0012742
created_by: HPO:skoehler

[Term]
id: HP:0040038
name: obsolete Thin toenail
is_obsolete: true
replaced_by: HP:0012746
created_by: HPO:skoehler

[Term]
id: HP:0040039
name: Onycholysis of fingernails
synonym: "Detachment of fingernails" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Onycholysis of fingernail" EXACT []
xref: UMLS:C3553044
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0001806 ! Onycholysis
created_by: HPO:skoehler

[Term]
id: HP:0040040
name: Toenail onycholysis
def: "Painless and spontaneous separation of a toenail from the nail bed." []
synonym: "Detachment of toenails" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Onycholysis of toenails" EXACT []
xref: UMLS:C4022476
is_a: HP:0001806 ! Onycholysis
is_a: HP:0008388 ! Abnormal toenail morphology
created_by: HPO:skoehler

[Term]
id: HP:0040042
name: Aplasia of the eccrine sweat glands
synonym: "Absent eccrine sweat glands" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022475
is_a: HP:0007592 ! Aplasia/Hypoplastia of the eccrine sweat glands
is_a: HP:0011136 ! Aplasia of the sweat glands
created_by: HPO:skoehler

[Term]
id: HP:0040043
name: Hypoplasia of the eccrine sweat glands
synonym: "Underdeveloped major sweat glands" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022474
is_a: HP:0007387 ! Hypoplastic sweat glands
is_a: HP:0007592 ! Aplasia/Hypoplastia of the eccrine sweat glands
created_by: HPO:skoehler

[Term]
id: HP:0040044
name: Hypoplasia of the diaphragm
synonym: "Underdeveloped diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022473
is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm
created_by: HPO:skoehler

[Term]
id: HP:0040045
name: Abnormality of the hemidiaphragms
xref: UMLS:C4022472
is_a: HP:0000775 ! Abnormality of the diaphragm
created_by: HPO:skoehler

[Term]
id: HP:0040046
name: Abnormality of the left hemidiaphragm
xref: UMLS:C4022471
is_a: HP:0040045 ! Abnormality of the hemidiaphragms
created_by: HPO:skoehler

[Term]
id: HP:0040047
name: Abnormality of the right hemidiaphragm
xref: UMLS:C4022470
is_a: HP:0040045 ! Abnormality of the hemidiaphragms
created_by: HPO:skoehler

[Term]
id: HP:0040048
name: Aplasia of the left hemidiaphragm
xref: UMLS:C4022469
is_a: HP:0040046 ! Abnormality of the left hemidiaphragm
created_by: HPO:skoehler

[Term]
id: HP:0040049
name: Macular edema
def: "Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease." [ORCID:0000-0003-0986-4123]
synonym: "Macular oedema" EXACT HP:0045076 []
xref: MSH:D008269
xref: SNOMEDCT_US:37231002
xref: UMLS:C0271051
is_a: HP:0000969 ! Edema
is_a: HP:0030498 ! Macular thickening
created_by: HPO:skoehler

[Term]
id: HP:0040050
name: Sparse upper eyelashes
synonym: "Hypotrichosis of upper eyelashes" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Partial absence of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Sparse upper eyelashes" EXACT layperson []
xref: UMLS:C4022468
is_a: HP:0000653 ! Sparse eyelashes
is_a: HP:0040051 ! Abnormality of upper eyelashes
created_by: HPO:skoehler

[Term]
id: HP:0040051
name: Abnormality of upper eyelashes
synonym: "Abnormality of upper eyelashes" EXACT layperson []
xref: UMLS:C4022467
is_a: HP:0000499 ! Abnormal eyelash morphology
created_by: HPO:skoehler

[Term]
id: HP:0040052
name: Abnormality of lower eyelashes
synonym: "Abnormality of lower eyelashes" EXACT layperson []
xref: UMLS:C4022466
is_a: HP:0000499 ! Abnormal eyelash morphology
created_by: HPO:skoehler

[Term]
id: HP:0040053
name: Long lower eyelashes
synonym: "Ciliary trichomegaly of lower eyelashes" EXACT []
synonym: "Increased length of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long lower eyelashes" EXACT layperson []
xref: UMLS:C4022465
is_a: HP:0000527 ! Long eyelashes
is_a: HP:0040052 ! Abnormality of lower eyelashes
created_by: HPO:skoehler

[Term]
id: HP:0040054
name: Short upper eyelashes
synonym: "Decreased length of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short upper eyelashes" EXACT layperson []
xref: UMLS:C4022464
is_a: HP:0010764 ! Short eyelashes
is_a: HP:0040051 ! Abnormality of upper eyelashes
created_by: HPO:skoehler

[Term]
id: HP:0040055
name: Short lower eyelashes
synonym: "Decreased length of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short lower eyelashes" EXACT layperson []
xref: UMLS:C4022463
is_a: HP:0010764 ! Short eyelashes
is_a: HP:0040052 ! Abnormality of lower eyelashes
created_by: HPO:skoehler

[Term]
id: HP:0040056
name: Absent upper eyelashes
synonym: "Absent upper eyelashes" EXACT layperson []
synonym: "Agenesis of upper eyelashes" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Aplasia of upper eyelashes" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Atrichia of upper eyelashes" EXACT []
synonym: "Failure of development of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022462
xref: UMLS:C4280255
xref: UMLS:C4280294
is_a: HP:0000561 ! Absent eyelashes
created_by: HPO:skoehler

[Term]
id: HP:0040057
name: Abnormality of nasal hair
synonym: "Abnormality of nasal hair" EXACT layperson []
synonym: "Abnormality of nose hair" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021858
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0100037 ! Abnormality of the scalp hair
created_by: HPO:skoehler

[Term]
id: HP:0040059
name: Calcification of ribs
xref: UMLS:C4022461
is_a: HP:0000772 ! Abnormality of the ribs
is_a: HP:0010766 ! Ectopic calcification
created_by: HPO:skoehler

[Term]
id: HP:0040061
name: Osteosclerosis of the radius
xref: UMLS:C4022460
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0003967 ! Sclerotic forearm bones
created_by: HPO:skoehler

[Term]
id: HP:0040062
name: Slender radius
xref: UMLS:C1968813
is_a: HP:0003100 ! Slender long bone
is_a: HP:0003969 ! Slender forearm bones
is_a: HP:0045008 ! Abnormal shape of the radius
created_by: HPO:skoehler

[Term]
id: HP:0040063
name: Decreased adipose tissue
synonym: "Decreased fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022459
is_a: HP:0009124 ! Abnormal adipose tissue morphology
created_by: HPO:skoehler

[Term]
id: HP:0040064
name: Abnormality of limbs
synonym: "Abnormal limbs" EXACT layperson [HPO:skoehler]
synonym: "Abnormality of limbs" EXACT layperson []
synonym: "Dysmelia" RELATED [HPO:probinson]
synonym: "Limb anomaly" EXACT [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:445144002
xref: UMLS:C0239337
xref: UMLS:C4073131
is_a: HP:0000118 ! Phenotypic abnormality
created_by: HPO:skoehler

[Term]
id: HP:0040065
name: Abnormal morphology of bones of the upper limbs
synonym: "Abnormal shape of bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022458
is_a: HP:0002813 ! Abnormality of limb bone morphology
is_a: HP:0040070 ! Abnormal upper limb bone morphology
created_by: HPO:skoehler

[Term]
id: HP:0040066
name: Abnormal morphology of bones of the lower limbs
synonym: "Abnormal shape of bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022457
is_a: HP:0002813 ! Abnormality of limb bone morphology
is_a: HP:0040069 ! Abnormal lower limb bone morphology
created_by: HPO:skoehler

[Term]
id: HP:0040068
name: Abnormality of limb bone
synonym: "Abnormality of limb bone" EXACT layperson []
xref: UMLS:C4022456
is_a: HP:0000924 ! Abnormality of the skeletal system
is_a: HP:0040064 ! Abnormality of limbs
created_by: HPO:skoehler

[Term]
id: HP:0040069
name: Abnormal lower limb bone morphology
synonym: "Abnormality of lower limb bone" EXACT layperson []
xref: UMLS:C4022455
is_a: HP:0002814 ! Abnormality of the lower limb
created_by: HPO:skoehler

[Term]
id: HP:0040070
name: Abnormal upper limb bone morphology
synonym: "Abnormality of upper limb bone" EXACT layperson []
xref: UMLS:C4022454
is_a: HP:0002817 ! Abnormality of the upper limb
created_by: HPO:skoehler

[Term]
id: HP:0040071
name: Abnormal morphology of ulna
xref: UMLS:C4022453
is_a: HP:0002997 ! Abnormality of the ulna
is_a: HP:0011314 ! Abnormality of long bone morphology
is_a: HP:0040073 ! Abnormal forearm bone morphology
created_by: HPO:skoehler

[Term]
id: HP:0040072
name: Abnormality of forearm bone
synonym: "Abnormality of forearm bone" EXACT layperson []
xref: UMLS:C4022452
is_a: HP:0002973 ! Abnormality of the forearm
is_a: HP:0040070 ! Abnormal upper limb bone morphology
created_by: HPO:skoehler

[Term]
id: HP:0040073
name: Abnormal forearm bone morphology
synonym: "Abnormal shape of of forearm bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022451
is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs
is_a: HP:0040072 ! Abnormality of forearm bone
created_by: HPO:skoehler

[Term]
id: HP:0040075
name: Hypopituitarism
xref: MSH:D007018
xref: SNOMEDCT_US:74728003
xref: UMLS:C0020635
is_a: HP:0011747 ! Abnormality of the anterior pituitary
created_by: HPO:skoehler

[Term]
id: HP:0040077
name: obsolete Abnormal concentration of calcium in blood
is_obsolete: true
replaced_by: HP:0004363

[Term]
id: HP:0040078
name: Axonal degeneration
xref: UMLS:C1837496
is_a: HP:0000764 ! Peripheral axonal degeneration
created_by: HPO:skoehler

[Term]
id: HP:0040079
name: Irregular dentition
synonym: "Irregular teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1856765
is_a: HP:0000164 ! Abnormality of the dentition
created_by: HPO:skoehler

[Term]
id: HP:0040080
name: Anteverted ears
xref: UMLS:C1857055
is_a: HP:0000357 ! Abnormal location of ears
created_by: HPO:skoehler

[Term]
id: HP:0040081
name: Abnormal circulating creatine kinase concentration
def: "Any deviation from the normal circulating creatine kinase concentration." [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal circulating CK concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal circulating CPK concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal circulation phospho-CK concentration" EXACT []
synonym: "Abnormal levels of creatine kinase in blood" EXACT layperson []
xref: UMLS:C4022449
is_a: HP:0011021 ! Abnormality of circulating enzyme level
created_by: HPO:skoehler

[Term]
id: HP:0040082
name: Happy demeanor
def: "A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context." [PMID:18830393]
synonym: "Happy demeanor" EXACT layperson []
xref: UMLS:C1856115
is_a: HP:0100851 ! Abnormal emotion/affect behavior
created_by: HPO:skoehler

[Term]
id: HP:0040083
name: Toe walking
synonym: "Toe walking" EXACT layperson []
synonym: "Toe-walking" EXACT layperson []
xref: SNOMEDCT_US:250018006
xref: UMLS:C0427144
is_a: HP:0001288 ! Gait disturbance
created_by: HPO:skoehler

[Term]
id: HP:0040084
name: Abnormal circulating renin
synonym: "Abnormal circulating renin" EXACT layperson []
synonym: "Abnormal plasma renin" EXACT layperson [HPO:skoehler]
xref: UMLS:C4021038
is_a: HP:0000847 ! Abnormality of renin-angiotensin system
created_by: HPO:skoehler

[Term]
id: HP:0040085
name: Abnormal circulating aldosterone
synonym: "Abnormal circulating aldosterone" EXACT layperson []
synonym: "Abnormal plasma aldosterone" EXACT layperson [HPO:skoehler]
xref: UMLS:C0857898
is_a: HP:0000847 ! Abnormality of renin-angiotensin system
created_by: HPO:skoehler

[Term]
id: HP:0040086
name: Abnormal prolactin level
synonym: "Abnormal prolactin level" EXACT layperson []
xref: UMLS:C4022448
is_a: HP:0000830 ! Anterior hypopituitarism
created_by: HPO:skoehler

[Term]
id: HP:0040087
name: Abnormal blood folate concentration
def: "Any deviation from the normal concentration of folate in the blood circulation." []
comment: Folate is an essential water-soluble vitamin (vitamin B9) that is found in green leafy vegetables, cereals, legumes, and  fruit. As a  major  methyl  group  donor, it plays an important role in one-carbon metabolism and is involved in DNA, RNA, and protein synthesis, in addition to its significant role in energy production and normal cell division. Low blood folate concentration is associated with an increased risk for neural tube defects during pregnancy.
synonym: "Abnormal serum folate" EXACT [HPO:skoehler]
synonym: "Abnormality of folate in blood" EXACT []
xref: UMLS:C4021037
is_a: HP:0012335 ! Abnormality of folate metabolism
created_by: HPO:skoehler

[Term]
id: HP:0040088
name: Abnormal lymphocyte count
def: "Any abnormality in the total number of lymphocytes in the blood." []
synonym: "Abnormal lymphocyte count" EXACT layperson []
synonym: "Abnormal lymphocyte counts" EXACT layperson [HPO:skoehler]
synonym: "Abnormal number of lymphocytes" EXACT layperson [HPO:skoehler]
synonym: "Abnormal numbers of lymphocytes" EXACT layperson []
synonym: "Abnormality of lymphocyte number" EXACT layperson [HPO:skoehler]
xref: SNOMEDCT_US:165534000
xref: UMLS:C0580550
is_a: HP:0004332 ! Abnormal lymphocyte morphology
is_a: HP:0011893 ! Abnormal leukocyte count
created_by: HPO:skoehler

[Term]
id: HP:0040089
name: Abnormal natural killer cell count
def: "Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes." [PMID:19278419]
comment: In human peripheral blood, five NK cell subpopulations can be defined on the basis of the relative expression of the markers CD16 and CD56: (1) CD56bright CD16- (50-70% of CD56bright), (2) CD56bright CD16dim (30-50% of CD56bright), (3) CD56dim CD16-, (4) CD56dim CD16bright, and (5) CD56- CD16bright. In healthy individuals, populations (3) and (5) are numerically in the minority.
synonym: "Abnormal natural killer cell count" EXACT []
synonym: "Abnormal NK cell count" EXACT HP:0045077 []
synonym: "Abnormal number of natural killer cells" EXACT [HPO:skoehler]
synonym: "Abnormality of natural killer cell count" EXACT [HPO:skoehler]
xref: UMLS:C4021036
is_a: HP:0012176 ! Abnormal natural killer cell morphology
created_by: HPO:skoehler

[Term]
id: HP:0040090
name: Abnormality of the tympanic membrane
def: "An abnormality of the tympanic membrane" []
comment: The tympanic membrane is considered to be the border of middle and outer ear.
synonym: "Abnormality of the eardrum" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022447
is_a: HP:0000356 ! Abnormality of the outer ear
is_a: HP:0000370 ! Abnormality of the middle ear
created_by: HPO:skoehler

[Term]
id: HP:0040091
name: Asymmetry of the size of ears
synonym: "Asymmetry of the size of ears" EXACT layperson []
xref: UMLS:C4022446
is_a: HP:0010722 ! Asymmetry of the ears
created_by: HPO:skoehler

[Term]
id: HP:0040092
name: Asymmetry of the shape of the ears
synonym: "Asymmetry of the shape of the ears" EXACT layperson []
xref: UMLS:C4022445
is_a: HP:0010722 ! Asymmetry of the ears
created_by: HPO:skoehler

[Term]
id: HP:0040093
name: Asymmetry of the position of the ears
synonym: "Uneven ears" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022444
is_a: HP:0010722 ! Asymmetry of the ears
created_by: HPO:skoehler

[Term]
id: HP:0040095
name: Neoplasm of the outer ear
def: "A tumor (abnormal growth of tissue) of the outer ear." [HPO:probinson]
synonym: "Outer ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: NCIT:C3262
xref: UMLS:C4022443
is_a: HP:0000356 ! Abnormality of the outer ear
is_a: HP:0012780 ! Neoplasm of the ear
created_by: HPO:skoehler

[Term]
id: HP:0040096
name: Neoplasm of the inner ear
def: "A tumor (abnormal growth of tissue) of the inner ear." [HPO:probinson]
synonym: "Inner ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: NCIT:C3262
xref: UMLS:C1512779
is_a: HP:0000359 ! Abnormality of the inner ear
is_a: HP:0012780 ! Neoplasm of the ear
created_by: HPO:skoehler

[Term]
id: HP:0040097
name: Neoplasm of the ceruminal gland
def: "A tumor (abnormal growth of tissue) of the ceruminal gland." [HPO:probinson]
synonym: "Adenoma of the ceruminous gland" EXACT []
synonym: "Ceruminoma" EXACT []
synonym: "Ceruminous adenoma" EXACT []
xref: NCIT:C3262
xref: SNOMEDCT_US:403945001
xref: SNOMEDCT_US:52707009
xref: UMLS:C0334352
is_a: HP:0040095 ! Neoplasm of the outer ear
created_by: HPO:skoehler

[Term]
id: HP:0040098
name: Basalioma of the outer ear
xref: UMLS:C4022442
is_a: HP:0002671 ! Basal cell carcinoma
is_a: HP:0040095 ! Neoplasm of the outer ear
created_by: HPO:skoehler

[Term]
id: HP:0040099
name: Abnormality of the round window
xref: UMLS:C4022441
is_a: HP:0000359 ! Abnormality of the inner ear
is_a: HP:0000370 ! Abnormality of the middle ear
created_by: HPO:skoehler

[Term]
id: HP:0040100
name: Abnormality of the vestibular window
synonym: "Abnormality of the oval window" EXACT []
xref: UMLS:C4021035
is_a: HP:0000359 ! Abnormality of the inner ear
is_a: HP:0000370 ! Abnormality of the middle ear
created_by: HPO:skoehler

[Term]
id: HP:0040101
name: Cutaneous atresia of the external auditory canal
xref: UMLS:C4022440
is_a: HP:0000413 ! Atresia of the external auditory canal
created_by: HPO:skoehler

[Term]
id: HP:0040102
name: Osseous atresia of the external auditory canal
xref: UMLS:C4022439
is_a: HP:0000413 ! Atresia of the external auditory canal
created_by: HPO:skoehler

[Term]
id: HP:0040103
name: Cutaneous stenosis of the external auditory canal
xref: UMLS:C4022438
is_a: HP:0000402 ! Stenosis of the external auditory canal
created_by: HPO:skoehler

[Term]
id: HP:0040104
name: Osseous stenosis of the external auditory canal
xref: UMLS:C4022437
is_a: HP:0000402 ! Stenosis of the external auditory canal
created_by: HPO:skoehler

[Term]
id: HP:0040106
name: Morphological abnormality of the lateral semicircular canal
synonym: "Morphological abnormality of the horizontal semicircular canal" EXACT []
xref: UMLS:C4021034
is_a: HP:0011380 ! Morphological abnormality of the semicircular canal
created_by: HPO:skoehler

[Term]
id: HP:0040107
name: Morphological abnormality of the posterior semicircular canal
xref: UMLS:C4022436
is_a: HP:0011380 ! Morphological abnormality of the semicircular canal
created_by: HPO:skoehler

[Term]
id: HP:0040108
name: Morphological abnormality of the anterior semicircular canal
xref: UMLS:C4022435
is_a: HP:0011380 ! Morphological abnormality of the semicircular canal
created_by: HPO:skoehler

[Term]
id: HP:0040109
name: Morphological abnormality of the utricle
xref: UMLS:C4022434
is_a: HP:0011380 ! Morphological abnormality of the semicircular canal
created_by: HPO:skoehler

[Term]
id: HP:0040110
name: Morphological abnormality of the saccule
xref: UMLS:C4022433
is_a: HP:0011380 ! Morphological abnormality of the semicircular canal
created_by: HPO:skoehler

[Term]
id: HP:0040111
name: Bilateral external ear deformity
xref: UMLS:C4022432
is_a: HP:0000356 ! Abnormality of the outer ear
created_by: HPO:skoehler

[Term]
id: HP:0040112
name: Abnormal number of tubercles
xref: UMLS:C4022431
is_a: HP:0000377 ! Abnormality of the pinna
created_by: HPO:skoehler

[Term]
id: HP:0040113
name: Old-aged sensorineural hearing impairment
synonym: "Presbycusis" EXACT []
xref: MSH:D011304
xref: SNOMEDCT_US:49526009
xref: UMLS:C0033074
is_a: HP:0000407 ! Sensorineural hearing impairment
created_by: HPO:skoehler

[Term]
id: HP:0040114
name: Absence of the reflex of the tensor tympani muscle
xref: UMLS:C4022430
is_a: HP:0040120 ! Abnormality of the reflex of the tensor tympani muscle
created_by: HPO:skoehler

[Term]
id: HP:0040115
name: Abnormality of the Eustachian tube
xref: SNOMEDCT_US:204250005
xref: UMLS:C0262475
is_a: HP:0000370 ! Abnormality of the middle ear
created_by: HPO:skoehler

[Term]
id: HP:0040116
name: Aplasia of the Eustachian tube
synonym: "Absent eustachian tube" EXACT [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:75231006
xref: UMLS:C0266616
is_a: HP:0040115 ! Abnormality of the Eustachian tube
created_by: HPO:skoehler

[Term]
id: HP:0040117
name: Atresia of the Eustachian tube
xref: UMLS:C1388953
is_a: HP:0040115 ! Abnormality of the Eustachian tube
created_by: HPO:skoehler

[Term]
id: HP:0040118
name: Stenosis of the Eustachian tube
xref: SNOMEDCT_US:80101003
xref: UMLS:C0271469
is_a: HP:0040115 ! Abnormality of the Eustachian tube
created_by: HPO:skoehler

[Term]
id: HP:0040119
name: Unilateral conductive hearing impairment
xref: UMLS:C4022428
is_a: HP:0000405 ! Conductive hearing impairment
created_by: HPO:skoehler

[Term]
id: HP:0040120
name: Abnormality of the reflex of the tensor tympani muscle
xref: UMLS:C4022427
is_a: HP:0004454 ! Abnormal middle ear reflexes
created_by: HPO:skoehler

[Term]
id: HP:0040121
name: Abnormality of the acoustic reflex
def: "An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation." []
synonym: "Abnormal auditory reflex" EXACT []
synonym: "Abnormal middle-ear-muscles (MEM) reflex" EXACT []
synonym: "Abnormality of stapedial reflex" EXACT []
xref: UMLS:C4022426
is_a: HP:0004454 ! Abnormal middle ear reflexes
created_by: HPO:skoehler

[Term]
id: HP:0040122
name: Impairment of the the acoustic reflex
xref: UMLS:C4022425
is_a: HP:0040121 ! Abnormality of the acoustic reflex
created_by: HPO:skoehler

[Term]
id: HP:0040123
name: Impairment of the reflex of the tensor tympani muscle
xref: UMLS:C4022424
is_a: HP:0040120 ! Abnormality of the reflex of the tensor tympani muscle
created_by: HPO:skoehler

[Term]
id: HP:0040124
name: Patent tuba eustachii
synonym: "Open tuba eustachii" EXACT []
xref: UMLS:C4021033
is_a: HP:0040115 ! Abnormality of the Eustachian tube
created_by: HPO:skoehler

[Term]
id: HP:0040126
name: Abnormal vitamin B12 level
def: "A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins." [HPO:probinson]
synonym: "Abnormal serum cobalamin level" EXACT []
xref: UMLS:C4021032
is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism
created_by: HPO:skoehler

[Term]
id: HP:0040127
name: Abnormal sweat homeostasis
def: "An abnormality of the composition of sweat or the levels of its components." []
xref: UMLS:C4022423
is_a: HP:0012337 ! Abnormal homeostasis
created_by: HPO:skoehler

[Term]
id: HP:0040128
name: Abnormal sweat electrolytes
xref: UMLS:C4022422
is_a: HP:0040127 ! Abnormal sweat homeostasis
created_by: HPO:skoehler

[Term]
id: HP:0040129
name: Abnormal nerve conduction velocity
synonym: "Abnormal nerve conduction" EXACT []
synonym: "Abnormal nerve conduction velocities" EXACT []
synonym: "Nerve conduction abnormalities" EXACT []
xref: UMLS:C1866772
is_a: HP:0003134 ! Abnormality of peripheral nerve conduction
created_by: HPO:skoehler

[Term]
id: HP:0040130
name: Abnormal serum iron concentration
xref: UMLS:C0235760
is_a: HP:0011031 ! Abnormality of iron homeostasis
created_by: HPO:skoehler

[Term]
id: HP:0040131
name: Abnormal motor nerve conduction velocity
xref: UMLS:C4021031
is_a: HP:0040129 ! Abnormal nerve conduction velocity
created_by: HPO:skoehler

[Term]
id: HP:0040132
name: Abnormal sensory nerve conduction velocity
xref: UMLS:C4022421
is_a: HP:0040129 ! Abnormal nerve conduction velocity
created_by: HPO:skoehler

[Term]
id: HP:0040133
name: Abnormal serum ferritin
def: "A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma." [HPO:probinson, PMID:29723227]
comment: Ferritin is an iron storage protein present in all cells of the organism. A small amount is found in plasma and serum, which is a reflection of iron stores in healthy individuals. A low serum ferritin concentration is usually regarded as an indicator of iron depletion, although the interpretation of normal or high serum ferritin values is challenging in the presence of acute or chronic inflammatory processes, as ferritin is increased in iron overload states and inflammation.
synonym: "Abnormal plasma ferritin" EXACT []
synonym: "Abnormal serum ferritin" EXACT layperson []
xref: UMLS:C0853228
is_a: HP:0010876 ! Abnormal circulating protein level
created_by: HPO:skoehler

[Term]
id: HP:0040134
name: Abnormal hepatic iron concentration
synonym: "Abnormal liver iron concentration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal liver iron level" EXACT [HPO:skoehler]
xref: UMLS:C4022420
is_a: HP:0011031 ! Abnormality of iron homeostasis
is_a: HP:0410042 ! Abnormal liver morphology
created_by: HPO:skoehler

[Term]
id: HP:0040135
name: Abnormal transferrin saturation
def: "Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity." [PMID:15083853]
xref: UMLS:C4022419
is_a: HP:0011031 ! Abnormality of iron homeostasis
created_by: HPO:skoehler

[Term]
id: HP:0040137
name: Comedonal acne
def: "A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules." [PMID:18177407]
synonym: "Comedogenic acne" RELATED []
xref: UMLS:C4022418
is_a: HP:0001061 ! Acne
created_by: HPO:skoehler

[Term]
id: HP:0040138
name: Mucinous histiocytosis
def: "Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone." [PMID:10606860]
synonym: "Histiocytosis, mucinous" EXACT []
xref: SNOMEDCT_US:87412005
xref: UMLS:C0334126
is_a: HP:0100727 ! Histiocytosis
created_by: HPO:skoehler

[Term]
id: HP:0040139
name: Lipogranulomatosis
def: "Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions." []
comment: Usually caused by a faulty lipid metabolism
xref: SNOMEDCT_US:189099001
xref: SNOMEDCT_US:36279001
xref: SNOMEDCT_US:416439000
xref: UMLS:C1704214
is_a: HP:0002955 ! Granulomatosis
is_a: HP:0004356 ! Abnormality of lysosomal metabolism
created_by: HPO:skoehler

[Term]
id: HP:0040140
name: Degeneration of the striatum
xref: UMLS:C4022417
is_a: HP:0002180 ! Neurodegeneration
is_a: HP:0010994 ! Abnormal corpus striatum morphology
created_by: HPO:skoehler

[Term]
id: HP:0040141
name: Tardive dyskinesia
comment: the involuntary movements are tardive, meaning they have a slow or belated onset
xref: MSH:D000071057
xref: UMLS:C0686347
is_a: HP:0100660 ! Dyskinesia
created_by: HPO:skoehler

[Term]
id: HP:0040142
name: Reduced 5-oxoprolinase activity
def: "Decreased activity of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate." [PMID:6790862]
synonym: "5-oxoprolinase deficiency" EXACT []
xref: MSH:C535322
xref: SNOMEDCT_US:26132002
xref: UMLS:C0268525
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: HPO:skoehler

[Term]
id: HP:0040143
name: Dystopic os odontoideum
def: "Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus" []
xref: UMLS:C3552843
is_a: HP:0005667 ! Os odontoideum
created_by: HPO:skoehler

[Term]
id: HP:0040144
name: L-2-hydroxyglutaric aciduria
def: "An increase in the level of L-2-hydroxyglutaric acid in the urine." [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:237961001
xref: UMLS:C1855995
is_a: HP:0032278 ! 2-hydroxyglutarate aciduria
created_by: HPO:skoehler

[Term]
id: HP:0040145
name: Dicarboxylic acidemia
xref: UMLS:C4022416
is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration
is_a: HP:0032368 ! Acidemia
created_by: HPO:skoehler

[Term]
id: HP:0040146
name: D-2-hydroxyglutaric acidemia
xref: UMLS:C4022415
is_a: HP:0040145 ! Dicarboxylic acidemia
created_by: HPO:skoehler

[Term]
id: HP:0040147
name: L-2-hydroxyglutaric acidemia
xref: UMLS:C3888081
is_a: HP:0040145 ! Dicarboxylic acidemia
created_by: HPO:skoehler

[Term]
id: HP:0040148
name: Cortical myoclonus
xref: SNOMEDCT_US:698835006
xref: UMLS:C3698239
is_a: HP:0001336 ! Myoclonus
created_by: HPO:skoehler

[Term]
id: HP:0040149
name: Woolly scalp hair
synonym: "Afro-textured scalp hair" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Kinky scalp hair texture" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Nappy scalp hair texture" BROAD layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4015203
xref: UMLS:C4280291
xref: UMLS:C4280292
xref: UMLS:C4280293
is_a: HP:0002224 ! Woolly hair
created_by: HPO:skoehler

[Term]
id: HP:0040150
name: Epiblepharon of upper lid
xref: MSH:C565051
xref: UMLS:C1851582
is_a: HP:0011225 ! Epiblepharon
created_by: HPO:skoehler

[Term]
id: HP:0040151
name: Epiblepharon of lower lid
xref: MSH:C565051
xref: UMLS:C1851583
is_a: HP:0011225 ! Epiblepharon
created_by: HPO:skoehler

[Term]
id: HP:0040154
name: Acne inversa
def: "A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses." [https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx]
synonym: "Hidradenitis suppurativa" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Pyoderma fistulans significa" EXACT [PMID:23439959]
synonym: "Smoker's boils" EXACT [PMID:23439959]
synonym: "Verneuil's disease" EXACT [PMID:23439959]
xref: MSH:D017497
xref: SNOMEDCT_US:59393003
xref: UMLS:C0162836
is_a: HP:0001061 ! Acne
created_by: HPO:skoehler

[Term]
id: HP:0040155
name: Elevated urinary 3-hydroxybutyric acid
def: "An increased amount of 3-hydroxybutyric acid in the urine." []
xref: UMLS:C4022414
is_a: HP:0040156 ! Elevated urinary carboxylic acid
created_by: HPO:skoehler

[Term]
id: HP:0040156
name: Elevated urinary carboxylic acid
def: "An increased amount of carboxylic acid in the urine." []
xref: UMLS:C4022413
is_a: HP:0001992 ! Organic aciduria
created_by: HPO:skoehler

[Term]
id: HP:0040157
name: Abnormal intermamillary distance
xref: UMLS:C4022412
is_a: HP:0004404 ! Abnormal nipple morphology
created_by: HPO:skoehler

[Term]
id: HP:0040158
name: Short intermamillary distance
xref: UMLS:C4022411
is_a: HP:0040157 ! Abnormal intermamillary distance
created_by: HPO:skoehler

[Term]
id: HP:0040159
name: Abnormal spaced incisors
synonym: "Abnormal spaced incisors" EXACT layperson []
synonym: "Abnormality of spacing of front teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of spacing of incisors" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022410
is_a: HP:0011062 ! Misalignment of incisors
created_by: HPO:skoehler

[Term]
id: HP:0040160
name: Generalized osteoporosis
alt_id: HP:0005744
synonym: "Generalized osteoporosis with pathologic fractures" RELATED []
xref: MSH:D010024
xref: SNOMEDCT_US:64859006
xref: UMLS:C0029456
xref: UMLS:C3805887
is_a: HP:0000939 ! Osteoporosis

[Term]
id: HP:0040161
name: Localized osteoporosis
xref: UMLS:C1398367
is_a: HP:0000939 ! Osteoporosis

[Term]
id: HP:0040162
name: Orthokeratosis
def: "Formation of an anuclear keratin layer" []
xref: SNOMEDCT_US:708474007
xref: UMLS:C1843359
is_a: HP:0011368 ! Epidermal thickening

[Term]
id: HP:0040163
name: Abnormal pelvis bone morphology
synonym: "Abnormal shape of pelvis bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4073132
is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology

[Term]
id: HP:0040164
name: Lipomas of eyelids
def: "Fatty tumors on the eyelids." [ORCID:0000-0003-0986-4123]
comment: Eyelid lipomas
synonym: "Fatty tumors on the eyelids." EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073133
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0012032 ! Lipoma

[Term]
id: HP:0040165
name: Periostitis
def: "Inflammation of the periosteum" []
synonym: "Periostalgia" EXACT []
xref: MSH:D010522
xref: SNOMEDCT_US:41910004
xref: UMLS:C0031111
is_a: HP:0030313 ! Abnormal periosteum morphology

[Term]
id: HP:0040166
name: Abnormality of the periosteum
xref: UMLS:C4073134
is_a: HP:0000924 ! Abnormality of the skeletal system

[Term]
id: HP:0040167
name: Facial papilloma
comment: A very specific feature of Costello Syndrome
synonym: "Facial verruca" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Facial wart" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:240533004
xref: UMLS:C0343643
is_a: HP:0011799 ! Abnormality of facial soft tissue
is_a: HP:0012740 ! Papilloma

[Term]
id: HP:0040168
name: Focal seizures, afebril
synonym: "Seizures, partial, afebrile" EXACT []
xref: UMLS:C4049830
is_a: HP:0007359 ! Focal-onset seizure

[Term]
id: HP:0040169
name: Loose anagen hair
xref: UMLS:C3554793
is_a: HP:0040170 ! Abnormality of hair growth

[Term]
id: HP:0040170
name: Abnormality of hair growth
xref: UMLS:C4073136
is_a: HP:0001595 ! Abnormal hair morphology

[Term]
id: HP:0040171
name: Decreased serum testosterone level
alt_id: HP:0008230
synonym: "Decreased serum testosterone level" EXACT layperson []
synonym: "Decreased serum testosterone levels" EXACT layperson [HPO:skoehler]
synonym: "Decreased testosterone" BROAD layperson [HPO:skoehler]
synonym: "Low serum testosterone level" EXACT layperson [HPO:skoehler]
synonym: "Low serum testosterone levels" EXACT layperson [HPO:skoehler]
xref: SNOMEDCT_US:131078003
xref: UMLS:C1295654
xref: UMLS:C4073137
is_a: HP:0030087 ! Abnormal serum testosterone level
is_a: HP:0030349 ! Decreased circulating androgen level
created_by: HPO:skoehler

[Term]
id: HP:0040172
name: Abnormality of occipitofrontalis muscle
xref: UMLS:C4073138
is_a: HP:0003011 ! Abnormality of the musculature
created_by: HPO:skoehler

[Term]
id: HP:0040173
name: Abnormality of the tongue muscle
synonym: "Abnormality of lingual muscle" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the tongue muscle" EXACT layperson []
xref: UMLS:C4073139
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0030809 ! Abnormal tongue morphology
created_by: HPO:skoehler

[Term]
id: HP:0040174
name: Abnormality of extrinsic muscle of tongue
synonym: "Abnormality of extrinsic lingual muscle" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073140
is_a: HP:0040173 ! Abnormality of the tongue muscle
created_by: HPO:skoehler

[Term]
id: HP:0040175
name: Platelet-activating factor acetylhydrolase deficiency
xref: MSH:C566640
xref: UMLS:C3280315
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0040176
name: Abnormal circulating phospholipid concentration
def: "Any deviation from the normal concentration of a phospholipid in the blood circulation." []
synonym: "Abnormal level of phospholipids" EXACT []
xref: UMLS:C4073141
is_a: HP:0003119 ! Abnormal circulating lipid concentration
created_by: HPO:skoehler

[Term]
id: HP:0040177
name: Abnormal level of platelet-activating factor
synonym: "Abnormal level of PAF" EXACT []
xref: UMLS:C4073142
is_a: HP:0040176 ! Abnormal circulating phospholipid concentration
created_by: HPO:skoehler

[Term]
id: HP:0040178
name: Increased level of platelet-activating factor
synonym: "Increased level of PAF" EXACT []
xref: UMLS:C4073143
is_a: HP:0040177 ! Abnormal level of platelet-activating factor
created_by: HPO:skoehler

[Term]
id: HP:0040179
name: Decreased level of platelet-activating factor
synonym: "Decreased level of PAF" EXACT []
xref: UMLS:C4073144
is_a: HP:0040177 ! Abnormal level of platelet-activating factor
created_by: HPO:skoehler

[Term]
id: HP:0040180
name: Hyperkeratosis pilaris
xref: UMLS:C4073145
is_a: HP:0000962 ! Hyperkeratosis
created_by: HPO:skoehler

[Term]
id: HP:0040181
name: Chapped lip
def: "Cracking, fissuring, and peeling of the skin of the lips." []
synonym: "Chapped lip" EXACT layperson []
synonym: "Chapped lips" EXACT layperson []
synonym: "Cheilitis simplex" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Common cheilitis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Dry lips" EXACT layperson []
synonym: "Perioral dermatitis" RELATED [ORCID:0000-0001-5889-4463]
xref: MSH:D019557
xref: SNOMEDCT_US:16459000
xref: SNOMEDCT_US:238751002
xref: SNOMEDCT_US:248182008
xref: SNOMEDCT_US:402294001
xref: UMLS:C0263449
xref: UMLS:C0424489
is_a: HP:0000159 ! Abnormal lip morphology

[Term]
id: HP:0040182
name: Inappropriate sinus tachycardia
def: "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands." [HPO:probinson, pmid:15763524]
xref: SNOMEDCT_US:425582007
xref: UMLS:C1881170
is_a: HP:0011703 ! Sinus tachycardia

[Term]
id: HP:0040183
name: Encopresis
synonym: "Stool holding" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Stool soiling" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:302690004
xref: UMLS:C2945606
is_a: HP:0002607 ! Bowel incontinence

[Term]
id: HP:0040184
name: Oral bleeding
synonym: "Oral bleeding" EXACT layperson []
synonym: "Oral hemorrhage" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D006472
xref: SNOMEDCT_US:22490002
xref: UMLS:C0029163
is_a: HP:0031815 ! Abnormal oral physiology

[Term]
id: HP:0040185
name: Macrothrombocytopenia
synonym: "Macrothrombozytopenia" EXACT []
xref: UMLS:C2751260
is_a: HP:0001873 ! Thrombocytopenia
is_a: HP:0011877 ! Increased mean platelet volume

[Term]
id: HP:0040186
name: Maculopapular exanthema
def: "A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear." [PMID:19398898]
xref: SNOMEDCT_US:247471006
xref: SNOMEDCT_US:47725002
xref: UMLS:C0423791
is_a: HP:0000988 ! Skin rash
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040187
name: Neonatal sepsis
def: "Systemic inflammatory response to infection in newborn babies." [PMID:4067741]
xref: MSH:D000071074
xref: SNOMEDCT_US:206376005
xref: UMLS:C0456103
is_a: HP:0100806 ! Sepsis

[Term]
id: HP:0040188
name: Osteochondrosis
def: "Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification." []
xref: MSH:D055034
xref: SNOMEDCT_US:19579005
xref: UMLS:C0029429
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0100323 ! Juvenile aseptic necrosis
created_by: HPO:skoehler

[Term]
id: HP:0040189
name: Scaling skin
def: "Refers to the loss of the outer layer of the epidermis in large, scale-like flakes." []
synonym: "Desquamation" EXACT []
synonym: "flaking skin" EXACT layperson []
synonym: "peeling skin" EXACT layperson []
synonym: "Scaling skin" EXACT layperson []
synonym: "scaly skin" EXACT layperson []
xref: SNOMEDCT_US:14411002
xref: SNOMEDCT_US:271767006
xref: UMLS:C0237849
is_a: HP:0011124 ! Abnormality of epidermal morphology

[Term]
id: HP:0040190
name: White scaling skin
synonym: "White scaling skin" EXACT layperson []
synonym: "White scaly skin" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4073146
is_a: HP:0040189 ! Scaling skin

[Term]
id: HP:0040191
name: Rectus femoris muscle atrophy
synonym: "Atrophy of the rectus femoris muscles" EXACT []
xref: UMLS:C2083352
is_a: HP:0009050 ! Quadriceps muscle atrophy
created_by: HPO:skoehler

[Term]
id: HP:0040192
name: APUdoma
def: "An endocrine tumor arising from an APUD cell." []
synonym: "amine precursor uptake and decarboxylation tumours" EXACT []
xref: MSH:D001079
xref: SNOMEDCT_US:253008000
xref: SNOMEDCT_US:74926005
xref: UMLS:C0003650
is_a: HP:0100568 ! Neoplasm of the endocrine system
created_by: Courtney Hum

[Term]
id: HP:0040193
name: obsolete Pinealoblastoma
is_obsolete: true
replaced_by: HP:0030408

[Term]
id: HP:0040194
name: Increased head circumference
def: "An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart." []
synonym: "Increased head circumference" EXACT layperson []
xref: UMLS:C4083076
is_a: HP:0000240 ! Abnormality of skull size

[Term]
id: HP:0040195
name: Decreased head circumference
def: "An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean." [PMID:26505062]
comment: Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly.
synonym: "Decreased head circumference" EXACT layperson []
xref: SNOMEDCT_US:271611007
xref: UMLS:C0424688
is_a: HP:0000240 ! Abnormality of skull size

[Term]
id: HP:0040196
name: Mild microcephaly
def: "Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD)." []
comment: See related discussion https://github.com/obophenotype/human-phenotype-ontology/issues/497
xref: UMLS:C1836806
is_a: HP:0040195 ! Decreased head circumference

[Term]
id: HP:0040197
name: Encephalomalacia
def: "Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury." [PhenoTips:CHum]
synonym: "Cerebral softening" EXACT [HPO:skoehler]
xref: MSH:D004678
xref: SNOMEDCT_US:58762006
xref: UMLS:C0014068
is_a: HP:0002060 ! Abnormality of the cerebrum
created_by: PhenoTips:CHum

[Term]
id: HP:0040198
name: Non-medullary thyroid carcinoma
synonym: "Nonmedullary thyroid carcinoma" EXACT []
synonym: "Thyroid cancer, nonmedullary" EXACT []
xref: MSH:C536915
xref: UMLS:C3501843
is_a: HP:0002890 ! Thyroid carcinoma

[Term]
id: HP:0040199
name: obsolete Flat midface
is_obsolete: true
replaced_by: HP:0011800

[Term]
id: HP:0040200
name: Motor impersistence
def: "The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts." [PhenoTips:CHum]
comment: Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions. {xref="pmid:17353476", xref="HPO:pnrobinson"}
synonym: "Negative chorea" EXACT [PhenoTips:CHum]
xref: DOI:10.1007/978-0-387-79948-3_2046
xref: UMLS:C4073148
is_a: HP:0011443 ! Abnormality of coordination
created_by: PhenoTips:CHum

[Term]
id: HP:0040201
name: Simultanapraxia
def: "A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue." [PhenoTips:CHum]
xref: DOI:10.1007/978-0-387-79948-3_2046
xref: UMLS:C4073149
is_a: HP:0040200 ! Motor impersistence
created_by: PhenoTips:CHum

[Term]
id: HP:0040202
name: Abnormal consumption behavior
xref: UMLS:C4073150
is_a: HP:0000708 ! Behavioral abnormality

[Term]
id: HP:0040203
name: Abnormal CSF neopterin level
def: "Abnormal concentration of neopterin in the cerebrospinal fluid (CSF)." []
xref: UMLS:C4073151
is_a: HP:0025454 ! Abnormal CSF metabolite level
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
created_by: PhenoTips:CHum

[Term]
id: HP:0040204
name: Elevated CSF neopterin level
def: "Increased concentration of neopterin in the cerebrospinal fluid (CSF)." []
xref: UMLS:C4073152
is_a: HP:0040203 ! Abnormal CSF neopterin level
created_by: PhenoTips:CHum

[Term]
id: HP:0040205
name: Decreased CSF neopterin level
def: "Decreased concentration of neopterin in the cerebrospinal fluid (CSF)." []
xref: UMLS:C4073153
is_a: HP:0040203 ! Abnormal CSF neopterin level
created_by: PhenoTips:CHum

[Term]
id: HP:0040206
name: Abnormal circulating neopterin concentration
def: "Any deviation from the normal concentration of neopterin in the blood circulation." []
comment: Neopterin can be found to have abnormal level in blood, CSF, or urine.
xref: UMLS:C4073154
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
created_by: HPO:skoehler

[Term]
id: HP:0040207
name: Abnormal CSF biopterin level
def: "Abnormal concentration of biopterin in the cerebrospinal fluid (CSF)." []
synonym: "Abnormal cerebrospinal fluid biopterin level" EXACT []
xref: UMLS:C4073155
is_a: HP:0025454 ! Abnormal CSF metabolite level
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
created_by: PhenoTips:CHum

[Term]
id: HP:0040208
name: Elevated CSF biopterin level
def: "Increased concentration of biopterin in the cerebrospinal fluid (CSF)." []
xref: UMLS:C4073156
is_a: HP:0040207 ! Abnormal CSF biopterin level
created_by: PhenoTips:CHum

[Term]
id: HP:0040209
name: Decreased CSF biopterin level
def: "Decreased concentration of biopterin in the cerebrospinal fluid (CSF)." []
synonym: "Low CSF BH4 (tetrahydrobiopterin)" EXACT HP:0045077 []
xref: UMLS:C4073157
is_a: HP:0040207 ! Abnormal CSF biopterin level
created_by: PhenoTips:CHum

[Term]
id: HP:0040210
name: Abnormal circulating biopterin concentration
def: "A deviation from the normal concentration of biopterin in the blood circulation." []
xref: UMLS:C4073158
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
created_by: HPO:skoehler

[Term]
id: HP:0040211
name: Abnormality of the skin of the palm
def: "An abnormality of the skin of the palm, that is, the skin of the front of the hand." []
xref: UMLS:C4073159
is_a: HP:0011356 ! Regional abnormality of skin
is_a: HP:0100871 ! Abnormality of the palm
created_by: HPO:skoehler

[Term]
id: HP:0040212
name: Risus sardonicus
def: "Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles." []
comment: Accompanied by rigidity of neck and trunk muscles and arching of back. Often observed as a sign of tetanus.
synonym: "Rictus grin" EXACT []
xref: SNOMEDCT_US:64314006
xref: UMLS:C0343494
is_a: HP:0005324 ! Disturbance of facial expression
created_by: PhenoTips:CHum

[Term]
id: HP:0040213
name: Hypopnea
def: "Hypopnea is referring to breathing that is abnormally shallower and/or slow." []
comment: Not to be confused with Hypoventilation. Hypopnea is distinct from apnea in which there is no breathing.
xref: SNOMEDCT_US:386614005
xref: UMLS:C0235546
is_a: HP:0002793 ! Abnormal pattern of respiration

[Term]
id: HP:0040214
name: Abnormal insulin level
def: "An abnormal concentration of insulin in the body." []
xref: UMLS:C4073160
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0040215
name: Abnormal circulating insulin level
def: "An abnormal concentration of insulin in the blood." []
xref: UMLS:C4073161
is_a: HP:0040214 ! Abnormal insulin level

[Term]
id: HP:0040216
name: Hypoinsulinemia
def: "A decreased concentration of insulin in the blood." []
xref: UMLS:C2748055
is_a: HP:0040215 ! Abnormal circulating insulin level

[Term]
id: HP:0040217
name: Elevated hemoglobin A1c
def: "An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements." [HPO:probinson, PMID:20042774]
synonym: "Elevated glycated hemoglobin" EXACT []
synonym: "Elevated glycosylated hemoglobin" EXACT []
synonym: "Elevated HbA1c" EXACT HP:0045077 []
synonym: "Increased HbA1c levels" EXACT HP:0045077 []
xref: UMLS:C4073162
is_a: HP:0011902 ! Abnormal hemoglobin

[Term]
id: HP:0040218
name: Reduced natural killer cell count
def: "Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor." [HPO:probinson, PMID:23993353]
synonym: "Reduced natural killer cell number" EXACT []
synonym: "Reduced NK cell number" EXACT HP:0045077 []
xref: UMLS:C1855767
is_a: HP:0040089 ! Abnormal natural killer cell count

[Term]
id: HP:0040219
name: Absent natural killer cells
def: "Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis." [HPO:probinson]
synonym: "Absent NK cells" EXACT HP:0045077 []
xref: UMLS:C4073163
is_a: HP:0500033 ! Abnormal natural killer subset distribution

[Term]
id: HP:0040220
name: Abnormal size the dental root
xref: UMLS:C4280723
is_a: HP:0006486 ! Abnormality of the dental root

[Term]
id: HP:0040221
name: Hypoplasia of the dental root
xref: UMLS:C4280722
is_a: HP:0040220 ! Abnormal size the dental root

[Term]
id: HP:0040222
name: Maternal thrombophilia
def: "An increased tendency towards thrombosis in the mother during a pregnancy." [HPO:probinson, PMID:25401392]
comment: Maternal thrombophilia has been linked to an increased incidence of placental abruption, as well as other adverse pregnancy outcomes. It is believed that the increased obstetrical risk is mediated through placental vascular dysfunction. Placental thrombosis can then result in subsequent ischemic complications, such as fetal loss, preeclampsia, and fetal growth restriction. Placental abruption has been identified as being part of the spectrum of ischemic placental disease and is postulated to be a chronic disease process (PMID:25401392).
xref: UMLS:C4280721
is_a: HP:0002686 ! Prenatal maternal abnormality

[Term]
id: HP:0040223
name: Pulmonary hemorrhage
def: "A hemorrhage occurring within the lung." []
synonym: "Intrapulmonary hemorrhage" EXACT []
xref: UMLS:C4280720
is_a: HP:0002088 ! Abnormal lung morphology
is_a: HP:0011029 ! Internal hemorrhage

[Term]
id: HP:0040224
name: Abnormality of fibrinolysis
def: "Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)" []
comment: requested and created by members of the BRIDGE consortium
synonym: "Abnormality of the fibrinolytic system" EXACT []
xref: UMLS:C4280719
is_a: HP:0001928 ! Abnormality of coagulation

[Term]
id: HP:0040225
name: Decrease in high molecular weight von Willebrand factor Multimers
def: "A decrease in high molecular weight von Willebrand factor multimers." []
comment: Requested and created by members of the BRIDGE consortium.
synonym: "Decrease in HMW VWF multimers" EXACT []
xref: UMLS:C4280718
is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution

[Term]
id: HP:0040226
name: Decreased level of heparin co-factor II
def: "An abnormality of coagulation related to a decreased concentration of heparin co-factor II" []
comment: Requested and created by members of the BRIDGE consortium
synonym: "Heparin co-factor II deficiency" EXACT []
xref: UMLS:C4280717
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0040227
name: Decreased level of histidine-rich glycoprotein
def: "Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation" []
comment: Requested and created by members of the BRIDGE consortium
xref: UMLS:C4280716
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0040228
name: Decreased level of plasminogen
def: "A decreased level of Plasminogen" []
comment: Requested and created by members of the BRIDGE consortium
synonym: "Hypoplasminogenemia" EXACT []
xref: UMLS:C4280715
is_a: HP:0010990 ! Abnormality of the common coagulation pathway
is_a: HP:0032312 ! Decreased circulating globulin level

[Term]
id: HP:0040229
name: Decreased level of thrombomodulin
def: "Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot" []
comment: Requested and created by members of the BRIDGE consortium
synonym: "BDCA-3" RELATED []
xref: UMLS:C4255334
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0040230
name: Decreased level of tissue plasminogen activator
def: "tPA catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis" []
comment: Requested and created by members of the BRIDGE consortium
synonym: "Decreased level of tPA" EXACT []
xref: UMLS:C4280714
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0040231
name: Abnormal onset of bleeding
xref: UMLS:C4280713
is_a: HP:0001892 ! Abnormal bleeding

[Term]
id: HP:0040232
name: Delayed onset bleeding
def: "Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours." []
xref: UMLS:C4280712
is_a: HP:0040231 ! Abnormal onset of bleeding

[Term]
id: HP:0040233
name: Factor XIII subunit A deficiency
def: "Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot." []
comment: Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium
synonym: "Reduced factor XIII, subunit A" EXACT []
xref: MSH:C567691
xref: UMLS:C2750514
is_a: HP:0008357 ! Reduced factor XIII activity

[Term]
id: HP:0040234
name: Factor XIII subunit B deficiency
def: "Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot." []
comment: Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium
synonym: "Reduced factor XIII, subunit B" EXACT []
xref: MSH:C567688
xref: UMLS:C2750481
is_a: HP:0008357 ! Reduced factor XIII activity

[Term]
id: HP:0040235
name: Leukocyte inclusion bodies
def: "The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes." []
comment: This term has been requested and created by members of the BRIDGE consortium
synonym: "Dohle-like leukocyte inclusion bodies" EXACT []
synonym: "Inclusion bodies in leukocytes" EXACT []
xref: UMLS:C4280711
is_a: HP:0008264 ! Neutrophil inclusion bodies

[Term]
id: HP:0040236
name: Hyperfibrinolysis
def: "Increased degradation of fibrin, associated with clot instability and bleeding" []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C3805089
is_a: HP:0040224 ! Abnormality of fibrinolysis

[Term]
id: HP:0040237
name: Impaired binding of factor VIII to VWF
def: "Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay." []
comment: This term has been requested and created by members of the BRIDGE consortium
synonym: "von Willebrand Disease Type II Normandy" EXACT []
xref: UMLS:C4280710
is_a: HP:0012146 ! Abnormality of von Willebrand factor

[Term]
id: HP:0040238
name: Impaired neutrophil chemotaxis
def: "An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response" []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280709
is_a: HP:0005400 ! Reduction of neutrophil motility

[Term]
id: HP:0040239
name: Increased plasma vitamin K epoxide after vitamin K supplementation
def: "Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1." []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280708
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0040240
name: Increased ratio of VWF propeptide to VWF antigen
def: "An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA." []
comment: Some forms of von Willebrand Disease Type I (particularly those previously classified as type IC) and Acquired von Willebrand Disease. This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280707
is_a: HP:0012146 ! Abnormality of von Willebrand factor

[Term]
id: HP:0040241
name: Increased RIPA
def: "Increased platelet agglutination in response to low-dose ristocetin" []
comment: Characteristic of type 2B von Willebrand Disease or platelet-type (pseudo) VWD. (NB: this is not the same as enhanced ristocetin coafactor assay activity) This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280706
is_a: HP:0030402 ! Abnormal platelet aggregation

[Term]
id: HP:0040242
name: Muscle haemorrhage
def: "Haemorrhage occurring within a muscle" []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: SNOMEDCT_US:95422003
xref: UMLS:C0151702
is_a: HP:0011029 ! Internal hemorrhage
is_a: HP:0011805 ! Abnormal muscle morphology

[Term]
id: HP:0040243
name: Prolonged euglobulin clot lysis time
def: "Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored." []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280705
is_a: HP:0040224 ! Abnormality of fibrinolysis

[Term]
id: HP:0040244
name: Prolonged Russell's viper venom time
def: "Increased time to coagulation in the Russell's viper venom assay" []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280704
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0040245
name: Reduced alpha-2-antiplasmin activity
def: "Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis." []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280703
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0040246
name: Reduced antithrombin antigen
def: "Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation." []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280702
is_a: HP:0010990 ! Abnormality of the common coagulation pathway

[Term]
id: HP:0040247
name: Reduced euglobulin clot lysis time
def: "Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored." []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280701
is_a: HP:0040224 ! Abnormality of fibrinolysis

[Term]
id: HP:0040248
name: Reduced plasminogen activator inhibitor 1 activity
def: "Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator." []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280700
is_a: HP:0040224 ! Abnormality of fibrinolysis

[Term]
id: HP:0040249
name: Reduced plasminogen activator inhibitor 1 antigen
def: "Reduced level of plasminogen activator inhibitor 1 antigen." []
comment: Added the antigen level as diagnosis with only activity levels is very difficult due to assay problems. Activity levels of control patients also include 0 within the normal limit. This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280699
is_a: HP:0040224 ! Abnormality of fibrinolysis

[Term]
id: HP:0040250
name: Reduced prothrombin antigen
def: "Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin." []
comment: This term has been requested and created by members of the BRIDGE consortium
xref: UMLS:C4280698
is_a: HP:0012200 ! Abnormality of prothrombin

[Term]
id: HP:0040251
name: Hand dimples
def: "A subtype of skin dimples occurring on the hands." [HPO:skoehler]
comment: Use case: PMC4498842
xref: UMLS:C4280697
is_a: HP:0010781 ! Skin dimples

[Term]
id: HP:0040252
name: Abnormal size of the clitoris
xref: UMLS:C4280696
is_a: HP:0000056 ! Abnormality of the clitoris

[Term]
id: HP:0040253
name: Increased size of the clitoris
xref: UMLS:C4280695
is_a: HP:0040252 ! Abnormal size of the clitoris

[Term]
id: HP:0040254
name: Decreased size of the clitoris
xref: UMLS:C4280694
is_a: HP:0040252 ! Abnormal size of the clitoris

[Term]
id: HP:0040255
name: Aplasia/Hypoplasia of the clitoris
xref: UMLS:C4280693
is_a: HP:0000056 ! Abnormality of the clitoris

[Term]
id: HP:0040256
name: Aplastic/Hypoplastic nasopharyngeal adenoids
def: "Absence or underdevelopment of the nasopharyngeal adenoids." []
synonym: "Adenoids small or absent" RELATED []
xref: UMLS:C4280290
is_a: HP:3000033 ! Abnormality of nasopharyngeal adenoids

[Term]
id: HP:0040257
name: Abnormal size of nasopharyngeal adenoids
def: "A deviation in the size of nasopharyngeal adenoids." [ORCID:0000-0001-7941-2961]
xref: UMLS:C4280692
is_a: HP:3000033 ! Abnormality of nasopharyngeal adenoids

[Term]
id: HP:0040258
name: Hypoplastic nasopharyngeal adenoids
def: "Underdevelopment of the nasopharyngeal adenoids." []
synonym: "Underdeveloped nasopharyngeal adenoids" EXACT []
xref: UMLS:C4280691
is_a: HP:0040256 ! Aplastic/Hypoplastic nasopharyngeal adenoids
is_a: HP:0040260 ! Decreased size of nasopharyngeal adenoids

[Term]
id: HP:0040259
name: Aplastic nasopharyngeal adenoids
def: "Absence of the nasopharyngeal adenoids as a developmental defect." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4280690
is_a: HP:0040256 ! Aplastic/Hypoplastic nasopharyngeal adenoids

[Term]
id: HP:0040260
name: Decreased size of nasopharyngeal adenoids
def: "An abnormal decrease in the size of nasopharyngeal adenoids." [ORCID:0000-0001-7941-2961]
xref: UMLS:C4280689
is_a: HP:0040257 ! Abnormal size of nasopharyngeal adenoids

[Term]
id: HP:0040261
name: Increased size of nasopharyngeal adenoids
def: "An abnormal increase in the size of nasopharyngeal adenoids." []
synonym: "Adenoid hypertrophy" RELATED []
synonym: "Adenoids large" RELATED []
xref: SNOMEDCT_US:111591002
xref: SNOMEDCT_US:276442006
xref: UMLS:C0149825
xref: UMLS:C0455938
is_a: HP:0040257 ! Abnormal size of nasopharyngeal adenoids

[Term]
id: HP:0040262
name: Glue ear
def: "Middle ear is filled with glue-like fluid instead of air." []
comment: http://patient.info/health/glue-ear-leaflet
xref: MSH:D010034
xref: SNOMEDCT_US:78868004
xref: UMLS:C0029883
is_a: HP:0000370 ! Abnormality of the middle ear

[Term]
id: HP:0040263
name: Jaw ankylosis
synonym: "Difficulty opening mouth" BROAD []
xref: SNOMEDCT_US:285466001
xref: UMLS:C0563350
xref: UMLS:C4280688
is_a: HP:0000277 ! Abnormality of the mandible

[Term]
id: HP:0040264
name: Jaw pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw." [HPO:probinson]
synonym: "Jaw pain" EXACT layperson []
xref: SNOMEDCT_US:274667000
xref: UMLS:C0236000
is_a: HP:0012531 ! Pain

[Term]
id: HP:0040265
name: Upper limb muscle hypertrophy
xref: UMLS:C4280687
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0003712 ! Skeletal muscle hypertrophy

[Term]
id: HP:0040266
name: Proximal upper limb muscle hypertrophy
xref: UMLS:C4280686
is_a: HP:0040265 ! Upper limb muscle hypertrophy

[Term]
id: HP:0040267
name: Distal upper limb muscle hypertrophy
xref: UMLS:C4280685
is_a: HP:0040265 ! Upper limb muscle hypertrophy

[Term]
id: HP:0040268
name: Recurrent infections of the middle ear
def: "Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections" [ORCID:0000-0001-7941-2961]
xref: UMLS:C0747085
is_a: HP:0000370 ! Abnormality of the middle ear
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0040269
name: Blocked Eustachian tube
synonym: "Obstruction of Eustachian tube" EXACT []
xref: SNOMEDCT_US:48145001
xref: UMLS:C0149508
is_a: HP:0040115 ! Abnormality of the Eustachian tube

[Term]
id: HP:0040270
name: Impaired glucose tolerance
def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." [HPO:probinson]
synonym: "Decreased glucose tolerance" EXACT []
synonym: "Glucose tolerance decreased" EXACT []
xref: MP:0005291
xref: UMLS:C0151671
is_a: HP:0001952 ! Glucose intolerance

[Term]
id: HP:0040272
name: Hyperintensity of MRI T2 signal of the spinal cord
def: "A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord." [HPO:probinson]
comment: Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. {xref="PMID:19527360"}
xref: UMLS:C4280684
is_a: HP:0002143 ! Abnormality of the spinal cord

[Term]
id: HP:0040273
name: Adenocarcinoma of the intestines
def: "A malignant epithelial tumor with a glandular organization that originates in the intestines." []
xref: NCIT:C2852
xref: UMLS:C4280683
is_a: HP:0002672 ! Gastrointestinal carcinoma

[Term]
id: HP:0040274
name: Adenocarcinoma of the small intestine
def: "A malignant epithelial tumor with a glandular organization that originates in the small intestine." []
xref: NCIT:C2852
xref: SNOMEDCT_US:424440001
xref: UMLS:C0278803
is_a: HP:0040273 ! Adenocarcinoma of the intestines
is_a: HP:0100833 ! Neoplasm of the small intestine

[Term]
id: HP:0040275
name: Adenocarcinoma of the large intestine
def: "A malignant epithelial tumor with a glandular organization that originates in the large intestine." []
xref: NCIT:C2852
xref: SNOMEDCT_US:408645001
xref: UMLS:C1319315
is_a: HP:0040273 ! Adenocarcinoma of the intestines
is_a: HP:0100834 ! Neoplasm of the large intestine
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040276
name: Adenocarcinoma of the colon
xref: NCIT:C2852
xref: UMLS:C0338106
is_a: HP:0040275 ! Adenocarcinoma of the large intestine
is_a: HP:0100273 ! Neoplasm of the colon
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040277
name: Neoplasm of the pituitary gland
xref: NCIT:C3262
is_a: HP:0100568 ! Neoplasm of the endocrine system

[Term]
id: HP:0040278
name: Prolactinoma
def: "A benign tumor (adenoma) of the pituitary gland" []
comment: Associated with increased prolactin in the blood (hyperprolactinemia)
is_a: HP:0012503 ! Abnormality of the pituitary gland
is_a: HP:0040277 ! Neoplasm of the pituitary gland

[Term]
id: HP:0040279
name: Frequency
def: "Class to represent frequency of phenotypic abnormalities within a patient cohort." []
comment: Aligned with Orphanet
is_a: HP:0000001 ! All
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040280
name: Obligate
def: "Always present, i.e. in 100% of the cases." []
synonym: "Obligate (100%)" EXACT []
xref: ORPHA:453310
is_a: HP:0040279 ! Frequency
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040281
name: Very frequent
def: "Present in 80% to 99% of the cases." []
synonym: "Very frequent (99-80%)" EXACT []
xref: ORPHA:453311
is_a: HP:0040279 ! Frequency
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040282
name: Frequent
def: "Present in 30% to 79% of the cases." []
synonym: "Frequent (79-30%)" EXACT []
xref: ORPHA:453312
is_a: HP:0040279 ! Frequency
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040283
name: Occasional
def: "Present in 5% to 29% of the cases." []
synonym: "Occasional (29-5%)" EXACT []
xref: ORPHA:453313
is_a: HP:0040279 ! Frequency
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040284
name: Very rare
def: "Present in 1% to 4% of the cases." []
synonym: "Very rare (&lt;4-1%)" EXACT []
synonym: "Very rare (<4-1%)" EXACT []
xref: ORPHA:453314
is_a: HP:0040279 ! Frequency
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040285
name: Excluded
def: "Present in 0% of the cases." []
synonym: "Excluded (0%)" EXACT []
xref: ORPHA:453315
is_a: HP:0040279 ! Frequency
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040286
name: Abnormality of axial muscles
is_a: HP:0003011 ! Abnormality of the musculature
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040287
name: Axial muscle atrophy
is_a: HP:0040286 ! Abnormality of axial muscles
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040288
name: Nasogastric tube feeding
is_a: HP:0011968 ! Feeding difficulties

[Term]
id: HP:0040289
name: Cyclic neutropenia
def: "Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia)." [https://rarediseases.info.nih.gov/diseases/6229/cyclic-neutropenia]
synonym: "CyN" EXACT HP:0045077 []
is_a: HP:0001875 ! Neutropenia

[Term]
id: HP:0040290
name: Abnormality of skeletal muscles
is_a: HP:0003011 ! Abnormality of the musculature

[Term]
id: HP:0040291
name: Skeletal muscle steatosis
synonym: "Steatosis of skeletal muscle" EXACT []
synonym: "Steatosis of skeletal muscles" EXACT []
is_a: HP:0040290 ! Abnormality of skeletal muscles

[Term]
id: HP:0040292
name: Left hemiplegia
synonym: "Hemiplegia (left)" EXACT []
is_a: HP:0002301 ! Hemiplegia

[Term]
id: HP:0040293
name: Right hemiplegia
synonym: "Hemiplegia (right)" EXACT []
is_a: HP:0002301 ! Hemiplegia

[Term]
id: HP:0040294
name: Duplicated tongue
synonym: "Duplication of tongue" EXACT []
synonym: "Tongue duplicated" EXACT []
synonym: "Tongue duplication" EXACT []
is_a: HP:0030809 ! Abnormal tongue morphology

[Term]
id: HP:0040295
name: Duplication of the upper lip
synonym: "Double upper lip" EXACT []
is_a: HP:0000177 ! Abnormality of upper lip

[Term]
id: HP:0040296
name: Abnormal location of the eyebrow
synonym: "Abnormal location of eyebrows" EXACT []
synonym: "Abnormally placed eyebrows" EXACT []
is_a: HP:0000534 ! Abnormal eyebrow morphology

[Term]
id: HP:0040297
name: Preauricular cyst
is_a: HP:0000383 ! Abnormality of periauricular region

[Term]
id: HP:0040298
name: Hyperplasia of the endometrium
synonym: "Hyperplastic endometrium" EXACT []
is_a: HP:0030126 ! Abnormality of the endometrium

[Term]
id: HP:0040299
name: Decreased circulating free fatty acid level
synonym: "Low fatty acids level" EXACT []
is_a: HP:0040300 ! Abnormal circulating free fatty acid concentration
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040300
name: Abnormal circulating free fatty acid concentration
def: "Any deviation from the normal concentration of a free fatty acid in the blood circulation." []
synonym: "Abnormal circulating free fatty acid level" EXACT []
is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040301
name: Increased urinary glycerol
def: "An increased concentration of glycerol in the urine." []
is_a: HP:0031979 ! Abnormal urine carbohydrate level

[Term]
id: HP:0040302
name: Hyperglycerolemia
def: "Increased concentration of glycerol in the blood." [PMID:23415440]
comment: In glycerol kinase deficiency, the increased glycerol concentration has been noted to cause false-positive results of hypertriglyceridemia, a phenomenon called pseudohypertriglyceridemia.
synonym: "Pseudohypertriglyceridemia" RELATED []
is_a: HP:0031795 ! Abnormal circulating glycerol level

[Term]
id: HP:0040303
name: Decreased serum iron
synonym: "Low serum iron" EXACT []
is_a: HP:0040130 ! Abnormal serum iron concentration

[Term]
id: HP:0040304
name: Duplication of the sella turcica
synonym: "Duplicate sella turcica" EXACT []
synonym: "Duplicated sella turcica" EXACT []
is_a: HP:0002679 ! Abnormality of the sella turcica

[Term]
id: HP:0040305
name: Increased male libido
def: "Increased desire for sexual activity on the part of a male." []
is_a: HP:0031845 ! Abnormal libido
is_a: HP:0040307 ! Male sexual dysfunction

[Term]
id: HP:0040306
name: Decreased male libido
def: "Reduced desire for sexual activity on the part of a male." []
is_a: HP:0031845 ! Abnormal libido
is_a: HP:0040307 ! Male sexual dysfunction

[Term]
id: HP:0040307
name: Male sexual dysfunction
is_a: HP:0012874 ! Abnormal male reproductive system physiology

[Term]
id: HP:0040308
name: Male anorgasmia
def: "Inability of a male to reach orgasm." []
is_a: HP:0040307 ! Male sexual dysfunction

[Term]
id: HP:0040309
name: Increased size of the mandible
synonym: "Large jaw" EXACT []
is_a: HP:0000277 ! Abnormality of the mandible

[Term]
id: HP:0040310
name: Sterile arthritis
def: "An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures." []
comment: This form of arthritis is termed 'sterile' because bacetriology returns negative results even though the clinical presentation resembles that of infectious arthritis.
is_a: HP:0001369 ! Arthritis
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040311
name: Symetrical distal arthritis
is_a: HP:0001369 ! Arthritis
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040312
name: Temporomandibular arthritis
synonym: "Arthritis of temporomandibular joint" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
is_a: HP:0001369 ! Arthritis

[Term]
id: HP:0040313
name: Oligoarthritis
is_a: HP:0001369 ! Arthritis

[Term]
id: HP:0040314
name: Blind vagina
def: "Normally, the female reproductive canal is connected to the internal genitalia. \"Blind vagina\" denotes cases, where this canal ends in a sac." [HPO:skoehler, MGI]
is_a: HP:0000142 ! Abnormal vagina morphology

[Term]
id: HP:0040315
name: Tongue edema
is_a: HP:0000157 ! Abnormality of the tongue
is_a: HP:0000969 ! Edema

[Term]
id: HP:0040316
name: obsolete Aplasia of the penis
is_obsolete: true
replaced_by: HP:0030261

[Term]
id: HP:0040317
name: Blue urine
def: "An abnormal blue color of the urine." []
comment: Blue or green urine coloration may be observed due to certain dyes used for tests of kidney and bladder function, some medications, and disorders including familial benign hypercalcemia and urinary tract infections caused by pseudomonas bacteria.
is_a: HP:0012086 ! Abnormal urinary color
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040318
name: Red urine
def: "An abnormal red color of the urine." []
comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean
is_a: HP:0012086 ! Abnormal urinary color
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040319
name: Dark urine
def: "An abnormal dark color of the urine." []
comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean
is_a: HP:0012086 ! Abnormal urinary color
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040320
name: Red-brown urine
def: "An abnormal red-brown color of the urine." []
comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean
synonym: "red brown urine" EXACT []
is_a: HP:0012086 ! Abnormal urinary color
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040321
name: Dark yellow urine
def: "An abnormal dark-yellow color of the urine." []
comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean
is_a: HP:0012086 ! Abnormal urinary color
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040322
name: Purple urine
def: "An abnormal purple color of the urine." []
comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean
is_a: HP:0012086 ! Abnormal urinary color
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040323
name: Erythema of the eyelids
def: "Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin." []
synonym: "Erythema of eyelid" EXACT []
synonym: "Eyelid erythema" EXACT []
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0010783 ! Erythema

[Term]
id: HP:0040324
name: Heliotrope rash
def: "In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower." []
comment: Heliotrope rash occurs during the initial phase of the idiopathic inflammatory myositis (particularly dermatomyositis). Heliotrope rash is a characteristic symptom of Dermatomyositis.
synonym: "Heliotrope erythema" EXACT []
is_a: HP:0000988 ! Skin rash
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040325
name: Bull's eye rash
def: "A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings." []
is_a: HP:0000988 ! Skin rash
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040326
name: Hypoplasia of the olfactory bulb
def: "Underdevelopment of the olfactory bulb." [HPO:skoehler]
synonym: "Hypoplasia of olfactory bulb" EXACT []
synonym: "Hypoplastic olfactory bulb" EXACT []
is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system
is_a: HP:0040327 ! Abnormal morphology of the olfactory bulb

[Term]
id: HP:0040327
name: Abnormal morphology of the olfactory bulb
def: "An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell." [HPO:skoehler]
is_a: HP:0100547 ! Abnormality of forebrain morphology

[Term]
id: HP:0040328
name: Focal hyperintensity of cerebral white matter on MRI
def: "An abnormal area of increased brightness (hyperintensity) that is limited to one particular area." []
is_a: HP:0007042 ! Focal white matter lesions
is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040329
name: Multifocal hyperintensity of cerebral white matter on MRI
def: "An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas." []
is_a: HP:0007052 ! Multifocal cerebral white matter abnormalities
is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040330
name: Confluent hyperintensity of cerebral white matter on MRI
def: "Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together." [PMID:25636970]
is_a: HP:0007204 ! Diffuse white matter abnormalities
is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040331
name: Focal hypointensity of cerebral white matter on MRI
is_a: HP:0007042 ! Focal white matter lesions
is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040332
name: Multifocal hypointensity of cerebral white matter on MRI
is_a: HP:0007052 ! Multifocal cerebral white matter abnormalities
is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040333
name: Confluent hypointensity of cerebral white matter on MRI
is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI
is_a: HP:0007204 ! Diffuse white matter abnormalities
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0040334
name: Purulent rhinitis
def: "Chronic rhinitis accompanied by pus formation." []
comment: An infection of the nasal mucosa associated with pus formation. (Often secondary to a systemic infection, such as measles)
is_a: HP:0002257 ! Chronic rhinitis
created_by: ORCID:0000-0002-5316-1399

[Term]
id: HP:0045001
name: Abnormal ossification of the trapezium
xref: UMLS:C4022409
is_a: HP:0004252 ! Abnormality of the trapezium
is_a: HP:0006257 ! Abnormality of carpal bone ossification
created_by: HPO:skoehler

[Term]
id: HP:0045002
name: Absent ossification of the trapezium
xref: UMLS:C4022408
is_a: HP:0045001 ! Abnormal ossification of the trapezium
created_by: HPO:skoehler

[Term]
id: HP:0045003
name: Abnormal ossification of the scaphoid
xref: UMLS:C4022407
is_a: HP:0004243 ! Abnormality of the scaphoid
created_by: HPO:skoehler

[Term]
id: HP:0045004
name: Abnormal ossification of the trapezoid bone
xref: UMLS:C4022406
is_a: HP:0004256 ! Abnormality of the trapezoid bone
is_a: HP:0006257 ! Abnormality of carpal bone ossification
created_by: HPO:skoehler

[Term]
id: HP:0045005
name: Neural tube defect
def: "A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine." [HPO:probinson, PMID:19808787]
synonym: "Abnormality of neural tube closure" EXACT []
xref: MSH:D009436
xref: SNOMEDCT_US:253098009
xref: UMLS:C0027794
is_a: HP:0410043 ! Abnormal neural tube morphology
created_by: HPO:skoehler

[Term]
id: HP:0045006
name: Aplasia of lymphatic vessels
def: "Aplasia (absence) of the lymphatic vessels." [ORCID:0000-0001-5208-3432]
synonym: "Absent lymphatic vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022404
is_a: HP:0100766 ! Abnormal lymphatic vessel morphology
created_by: HPO:skoehler

[Term]
id: HP:0045007
name: Abnormality of the substantia nigra
xref: UMLS:C4022403
is_a: HP:0002134 ! Abnormality of the basal ganglia
is_a: HP:0002418 ! Abnormality of midbrain morphology
created_by: HPO:skoehler

[Term]
id: HP:0045008
name: Abnormal shape of the radius
xref: UMLS:C4022402
is_a: HP:0045009 ! Abnormal morphology of the radius
created_by: HPO:skoehler

[Term]
id: HP:0045009
name: Abnormal morphology of the radius
xref: UMLS:C4022401
is_a: HP:0002818 ! Abnormality of the radius
is_a: HP:0011314 ! Abnormality of long bone morphology
is_a: HP:0040073 ! Abnormal forearm bone morphology
created_by: HPO:skoehler

[Term]
id: HP:0045010
name: Abnormality of peripheral nerves
xref: UMLS:C4022400
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
created_by: HPO:skoehler

[Term]
id: HP:0045011
name: Decreased urine bicarbonate concentration
def: "Abnormally decreased concentration of hydrogencarbonate in the urine." []
synonym: "Decreased urine HCO3 concentration" EXACT HP:0045077 []
xref: UMLS:C4022399
is_a: HP:0011279 ! Abnormality of urine bicarbonate concentration
created_by: HPO:skoehler

[Term]
id: HP:0045012
name: Decreased urinary catecholamine concentration
xref: UMLS:C4022398
is_a: HP:0011281 ! Abnormality of urine catecholamine concentration
created_by: HPO:skoehler

[Term]
id: HP:0045013
name: obsolete Decreased urinary glucose concentration
is_obsolete: true
consider: HP:0011016

[Term]
id: HP:0045014
name: Hypolipidemia
xref: SNOMEDCT_US:238090007
xref: UMLS:C0342892
is_a: HP:0003119 ! Abnormal circulating lipid concentration
created_by: HPO:skoehler

[Term]
id: HP:0045016
name: obsolete Elevated serum long-chain fatty acids
synonym: "Increased serum long-chain fatty acids" EXACT []
is_obsolete: true
replaced_by: HP:0003455

[Term]
id: HP:0045017
name: Congenital malformation of the left heart
def: "Defect or defects of the morphogenesis of the left heart identifiable at birth." []
xref: UMLS:C4022397
is_a: HP:0001627 ! Abnormal heart morphology
created_by: HPO:skoehler

[Term]
id: HP:0045018
name: Partial duplication of eyebrows
synonym: "Partial double eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Partial duplication of eyebrows" EXACT layperson []
xref: UMLS:C4022396
is_a: HP:0010730 ! Double eyebrow
created_by: HPO:skoehler

[Term]
id: HP:0045025
name: Narrow palpebral fissure
def: "Reduction in the vertical distance between the upper and lower eyelids." [HPO:probinson]
synonym: "Decreased size of palpebral fissure" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Narrow eyelid opening" RELATED layperson []
synonym: "Narrow palpebral fissures" EXACT []
synonym: "Small opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small palpebral fissures" EXACT [HPO:skoehler]
xref: UMLS:C1837464
xref: UMLS:C2675021
is_a: HP:0200007 ! Abnormal size of the palpebral fissures
created_by: HPO:skoehler

[Term]
id: HP:0045026
name: Abnormality of the mediastinum
alt_id: HP:0100722
xref: UMLS:C4022395
is_a: HP:0045027 ! Abnormality of the thoracic cavity
created_by: HPO:skoehler

[Term]
id: HP:0045027
name: Abnormality of the thoracic cavity
xref: UMLS:C4022394
is_a: HP:0000118 ! Phenotypic abnormality
created_by: HPO:skoehler

[Term]
id: HP:0045028
name: Microlissencephaly
def: "Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements." [PMID:8779318]
comment: This is a severe phenotype that can be diagnosed at the fetopathological level, by which a diagnosis of lissencephaly can be made by the examination of the 6 layers of the cortex. Examination may show 3 layers or an extremely thin cortical plate consistent with the diagnosis of lissencephaly.
synonym: "Lissencephaly type III" EXACT []
synonym: "Type 3 lissencephaly" EXACT []
synonym: "Type III lissencephaly" EXACT []
xref: UMLS:C4021030
is_a: HP:0001339 ! Lissencephaly
created_by: HPO:skoehler

[Term]
id: HP:0045029
name: Eosinophilic fasciitis
def: "Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues." [https://medlineplus.gov/ency/article/000447.htm]
xref: MSH:C562487
xref: SNOMEDCT_US:24129002
xref: UMLS:C0264005
is_a: HP:0100537 ! Fasciitis
created_by: HPO:skoehler

[Term]
id: HP:0045034
name: Elevated urinary aminoisobutyric acid
def: "An increased amount of 3-aminoisobutyric acid in the urine." []
xref: UMLS:C4022393
is_a: HP:0003355 ! Aminoaciduria
created_by: HPO:skoehler

[Term]
id: HP:0045035
name: Decreased urinary copper concentration
synonym: "Decreased urinary copper concentration" EXACT layperson []
xref: UMLS:C4073164
is_a: HP:0045036 ! Abnormal urinary copper concentration
created_by: HPO:skoehler

[Term]
id: HP:0045036
name: Abnormal urinary copper concentration
synonym: "Abnormal urinary copper concentration" EXACT layperson []
xref: UMLS:C4073165
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: HPO:skoehler

[Term]
id: HP:0045037
name: Abnormality of jaw muscles
synonym: "Abnormality of jaw muscles" EXACT layperson []
xref: UMLS:C4073166
is_a: HP:0000301 ! Abnormality of facial musculature
created_by: HPO:skoehler

[Term]
id: HP:0045038
name: Gastric lymphoma
def: "Llymphoma that originates in the stomach itself." []
comment: An uncommon condition, that accounts for less than 15% of gastric malignancies and about 2% of all lymphomas.
synonym: "Primary gastric lymphoma" EXACT []
xref: MSH:C535648
xref: SNOMEDCT_US:276811008
xref: UMLS:C0349532
is_a: HP:0002665 ! Lymphoma
is_a: HP:0006753 ! Neoplasm of the stomach
created_by: HPO:skoehler

[Term]
id: HP:0045039
name: Osteolysis involving bones of the upper limbs
xref: UMLS:C4073167
is_a: HP:0002797 ! Osteolysis
is_a: HP:0040070 ! Abnormal upper limb bone morphology
created_by: HPO:skoehler

[Term]
id: HP:0045040
name: Abnormal lactate dehydrogenase activity
def: "A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate." [PMID:25984930]
xref: UMLS:C4073168
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity

[Term]
id: HP:0045041
name: Reduced lactate dehydrogenase B level
comment: Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. The B subunit of that enzyme is encoded by LDHB.
xref: MSH:C563641
xref: UMLS:C3279904
is_a: HP:0045040 ! Abnormal lactate dehydrogenase activity

[Term]
id: HP:0045042
name: Decreased serum complement C4
def: "A reduced level of the complement component C4 in the circulation." [https://emedicine.medscape.com/article/135478-overview]
synonym: "Decreased serum complement C4 level" EXACT []
xref: UMLS:C4073169
is_a: HP:0004431 ! Complement deficiency
created_by: HPO:skoehler

[Term]
id: HP:0045043
name: Decreased serum complement C4a
def: "A reduced level of the complement component C4a in circulation." [https://emedicine.medscape.com/article/135478-overview]
xref: UMLS:C4073170
is_a: HP:0045042 ! Decreased serum complement C4
created_by: HPO:skoehler

[Term]
id: HP:0045044
name: Decreased serum complement C4b
def: "A reduced level of the complement component C4b in circulation." [https://emedicine.medscape.com/article/135478-overview]
synonym: "C4b deficiency" EXACT []
synonym: "Complement component 4B deficiency" EXACT []
xref: UMLS:C3280641
is_a: HP:0045042 ! Decreased serum complement C4
created_by: HPO:skoehler

[Term]
id: HP:0045045
name: Elevated plasma acylcarnitine levels
xref: UMLS:C4073171
is_a: HP:0012071 ! Abnormal circulating acetylcarnitine concentration
created_by: HPO:skoehler

[Term]
id: HP:0045046
name: Reduced insulin like growth factor binding protein acid labile subunit level
def: "Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits." []
comment: Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. {xref="wikipedia"}
synonym: "Acid-labile subunit deficiency" EXACT []
synonym: "Decreased levels of acid labile subunit" EXACT []
xref: UMLS:C3900122
is_a: HP:0031034 ! Abnormal insulin like growth factor binding protein acid labile subunit level

[Term]
id: HP:0045047
name: HbS hemoglobin
def: "Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography." [HPO:probinson, PMID:3953566]
xref: MSH:D006451
xref: SNOMEDCT_US:50095005
xref: UMLS:C0019043
is_a: HP:0011902 ! Abnormal hemoglobin

[Term]
id: HP:0045048
name: Increased HbA2 hemoglobin
def: "An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia." [HPO:probinson, PMID:26372049]
synonym: "Increased hemoglobin A2" EXACT []
xref: UMLS:C4073172
is_a: HP:0011902 ! Abnormal hemoglobin

[Term]
id: HP:0045049
name: Abnormal DLCO
def: "An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs." []
comment: A test of the diffusing capacity of the lungs for carbon monoxide (DLCO) is one of the most clinically valuable tests of lung function.
synonym: "Abnormal diffusing capacity" EXACT []
synonym: "Abnormal TLCO" EXACT []
synonym: "Abnormal transfer factor of the lung for carbon monoxide" EXACT []
xref: UMLS:C4073173
is_a: HP:0030878 ! Abnormality on pulmonary function testing

[Term]
id: HP:0045050
name: Increased DLCO
comment: Factors that can increase the DLCO include polycythaemia, asthma (can also have normal DLCO) and increased pulmonary blood volume as occurs in exercise. Other factors are left to right intracardiac shunting, and alveolar hemorrhage.
synonym: "Increased diffusing capacity" EXACT []
xref: UMLS:C4073174
is_a: HP:0045049 ! Abnormal DLCO

[Term]
id: HP:0045051
name: Decreased DLCO
comment: DLCO is decreased in any condition which affects the effective alveolar surface area
synonym: "Decreased diffusing capacity" EXACT []
xref: UMLS:C4073175
is_a: HP:0045049 ! Abnormal DLCO

[Term]
id: HP:0045052
name: Abnormality of the brachial nerve plexus
def: "Any abnormality of the brachial nerve plexus." []
xref: UMLS:C4073176
is_a: HP:0410010 ! Abnormality of somatic nerve plexus
created_by: HPO:skoehler

[Term]
id: HP:0045053
name: Abnormality of the lumbosacral nerve plexus
def: "Any abnormality of the lumbosacral nerve plexus." []
xref: UMLS:C4073177
is_a: HP:0410010 ! Abnormality of somatic nerve plexus
created_by: HPO:skoehler

[Term]
id: HP:0045054
name: Brachial plexus neuropathy
comment: Related to ticket: https://github.com/obophenotype/human-phenotype-ontology/issues/484
xref: MSH:D020516
xref: SNOMEDCT_US:3548001
xref: UMLS:C0700251
is_a: HP:0045052 ! Abnormality of the brachial nerve plexus
created_by: HPO:skoehler

[Term]
id: HP:0045055
name: Tiger tail banding
def: "A diagnostic alternating light and dark banding pattern under polarizing microscopy." []
synonym: "Tiger tail banding" EXACT layperson []
xref: UMLS:C4073178
is_a: HP:0003328 ! Abnormal hair laboratory examination
created_by: HPO:skoehler

[Term]
id: HP:0045056
name: Abnormal levels of alpha-fetoprotein
xref: UMLS:C4073179
is_a: HP:0010876 ! Abnormal circulating protein level

[Term]
id: HP:0045057
name: Decreased levels of alpha-fetoprotein
xref: UMLS:C4073295
is_a: HP:0045056 ! Abnormal levels of alpha-fetoprotein

[Term]
id: HP:0045058
name: Abnormality of the testis size
def: "An anomaly of the size of the testicle (the male gonad)." []
xref: UMLS:C4073180
is_a: HP:0000035 ! Abnormal testis morphology

[Term]
id: HP:0045059
name: Hyperkeratotic papule
def: "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically)." []
comment: Initially added for annotation of http://www.omim.org/clinicalSynopsis/615327
xref: PMID:3632007
xref: UMLS:C2047516
is_a: HP:0000962 ! Hyperkeratosis
is_a: HP:0200034 ! Papule

[Term]
id: HP:0045060
name: Aplasia/hypoplasia involving bones of the extremities
xref: UMLS:C4073181
is_a: HP:0002813 ! Abnormality of limb bone morphology
is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities

[Term]
id: HP:0045061
name: Decreased carnitine level in liver
xref: UMLS:C4073182
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
is_a: HP:0410042 ! Abnormal liver morphology

[Term]
id: HP:0045063
name: Increased PIVKA-II
def: "Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells." [HPO:pnrobinson, PMID:12717392]
comment: PIVKA-II can be measured by enzyme-linked immunosorbent assay (ELISA).
synonym: "Increased prothrombin induced by vitamin K absence-II" EXACT []
xref: UMLS:C1112467
is_a: HP:0100831 ! Abnormality of vitamin K metabolism

[Term]
id: HP:0045073
name: Serositis
def: "Inflammation in any serous cavity." [HPO:skoehler]
is_a: HP:0012649 ! Increased inflammatory response

[Term]
id: HP:0045074
name: Thin eyebrow
def: "Decreased diameter of eyebrow hairs." []
synonym: "Thin eyebrow" EXACT layperson []
synonym: "Thin eyebrows" EXACT layperson []
is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow
created_by: HPO:skoehler

[Term]
id: HP:0045075
name: Sparse eyebrow
def: "Decreased density/number of eyebrow hairs." [HPO:skoehler]
synonym: "Hypotrichosis of eyebrow" EXACT [HPO:skoehler]
synonym: "Sparse eyebrow" EXACT layperson []
synonym: "Sparse eyebrows" EXACT layperson []
is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow

[Term]
id: HP:0045079
name: Distal femoral metaphyseal irregularity
def: "Irregularity of the normally smooth surface of the distal metaphysis of the femur." []
synonym: "Irregular distal femoral metaphyses" EXACT []
is_a: HP:0030291 ! Lower-limb metaphyseal irregularity
created_by: HPO:skoehler

[Term]
id: HP:0045080
name: Decreased proportion of CD3-positive T cells
alt_id: HP:0045072
def: "Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells." []
synonym: "Decreased proportion of CD3+ T cells" EXACT []
is_a: HP:0005403 ! Decrease in T cell count

[Term]
id: HP:0045081
name: Abnormality of body mass index
def: "Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages." []
synonym: "Abnormal BMI" EXACT HP:0045077 []
synonym: "Abnormal body mass index" EXACT []
is_a: HP:0004323 ! Abnormality of body weight

[Term]
id: HP:0045082
name: Decreased body mass index
def: "Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages." []
synonym: "Decreased BMI" EXACT HP:0045077 []
is_a: HP:0004325 ! Decreased body weight
is_a: HP:0045081 ! Abnormality of body mass index

[Term]
id: HP:0045083
name: obsolete Increased body mass index
is_obsolete: true
consider: HP:0004324

[Term]
id: HP:0045084
name: Limb myoclonus
comment: Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573
synonym: "Myoclonus of limbs" EXACT []
is_a: HP:0001336 ! Myoclonus

[Term]
id: HP:0045085
name: Atrophy of masseter muscle
synonym: "Atrophied masseter muscle" EXACT []
synonym: "Masseter muscle atrophy" EXACT []
is_a: HP:3000005 ! Abnormality of masseter muscle

[Term]
id: HP:0045086
name: Knee joint hypermobility
def: "The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees)." [PMID:28599980, sanford:krageth]
synonym: "Knee joint over-flexibility" EXACT layperson []
is_a: HP:0001382 ! Joint hypermobility
is_a: HP:0010500 ! Hyperextensibility of the knee

[Term]
id: HP:0045087
name: Hip joint hypermobility
is_a: HP:0001382 ! Joint hypermobility

[Term]
id: HP:0100000
name: Early onset of sexual maturation
def: "An early onset of puberty, in this case early does not refer to precocious." [HPO:probinson]
synonym: "Early onset of sexual maturation" EXACT layperson []
xref: UMLS:C4022392
is_a: HP:0008373 ! Puberty and gonadal disorders
created_by: doelkens
creation_date: 2010-05-04T10:35:02Z

[Term]
id: HP:0100001
name: Malignant mesothelioma
def: "Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer." [HPO:sdoelken]
xref: HP:0100001
xref: MSH:C562839
xref: SNOMEDCT_US:62064005
xref: UMLS:C0345967
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2010-05-11T04:10:29Z

[Term]
id: HP:0100002
name: Pleural mesothelioma
def: "A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma." [HPO:sdoelken]
xref: NCIT:C3234
xref: SNOMEDCT_US:254645002
xref: UMLS:C0812413
is_a: HP:0100001 ! Malignant mesothelioma
is_a: HP:0100527 ! Neoplasia of the pleura
created_by: doelkens
creation_date: 2010-05-11T04:16:23Z

[Term]
id: HP:0100003
name: Peritoneal mesothelioma
def: "A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma." [HPO:sdoelken]
xref: NCIT:C3234
xref: SNOMEDCT_US:109853004
xref: UMLS:C0346109
is_a: HP:0002585 ! Abnormality of the peritoneum
is_a: HP:0100001 ! Malignant mesothelioma
is_a: HP:0100016 ! Abnormality of mesentery morphology
created_by: doelkens
creation_date: 2010-05-11T04:16:23Z

[Term]
id: HP:0100004
name: Pericardial mesothelioma
def: "A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart)." [HPO:sdoelken]
xref: NCIT:C3234
xref: UMLS:C1335381
is_a: HP:0001697 ! Abnormal pericardium morphology
is_a: HP:0100001 ! Malignant mesothelioma
created_by: doelkens
creation_date: 2010-05-11T04:16:23Z

[Term]
id: HP:0100005
name: Testicular mesothelioma
def: "A Malignant mesothelioma of the testis." [HPO:probinson]
comment: Testicular mesothelioma originates from cells of the tunica vaginalis (the thin layer of mesothelium surrounding the testicles). Testicular mesothelioma is the rarest form of mesothelioma.
xref: NCIT:C3234
xref: UMLS:C4022391
is_a: HP:0010788 ! Testicular neoplasm
is_a: HP:0100001 ! Malignant mesothelioma
created_by: doelkens
creation_date: 2010-05-11T04:16:23Z

[Term]
id: HP:0100006
name: Neoplasm of the central nervous system
def: "A neoplasm of the central nervous system." [HPO:probinson]
synonym: "Neoplasia of the central nervous system" RELATED []
synonym: "Neoplasm of the CNS" EXACT HP:0045077 []
synonym: "Tumors of the central nervous system" EXACT layperson [HPO:sdoelken]
xref: MSH:D016543
xref: NCIT:C3262
xref: SNOMEDCT_US:126951006
xref: UMLS:C0085136
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
is_a: HP:0004375 ! Neoplasm of the nervous system
created_by: doelkens
creation_date: 2010-05-14T09:11:53Z

[Term]
id: HP:0100007
name: Neoplasm of the peripheral nervous system
def: "A benign or malignant neoplasm (tumour) of the peripheral nervous system." [HPO:probinson]
synonym: "Tumor of the peripheral nervous system" EXACT layperson [HPO:sdoelken]
xref: MSH:D010524
xref: NCIT:C3262
xref: SNOMEDCT_US:126980002
xref: UMLS:C0031118
is_a: HP:0000759 ! Abnormal peripheral nervous system morphology
is_a: HP:0004375 ! Neoplasm of the nervous system
created_by: doelkens
creation_date: 2010-05-14T09:11:53Z

[Term]
id: HP:0100008
name: Schwannoma
def: "A benign nerve sheath tumor composed of Schwann cells." [HPO:sdoelken]
comment: Glial cells are cells that support nerve cells. Schwann cells wrap around the axon to form the myelin sheath. Schwann cells are involved in many important aspects of peripheral nerve biology; the conduction of nervous impulses along axons, nerve development and regeneration, trophic support for neurons, production of the nerve extracellular matrix and presentation of antigens to T-lymphocytes. Charcot-Marie-Tooth disease (CMT), Guillain-Barre syndrome (GBS), schwannomatosis and chronic inflammatory demyelinating polyneuropathy (CIDP) are all neuropathies involving Schwann cells.
synonym: "Neurilemmoma" EXACT []
synonym: "Neurinoma" EXACT []
synonym: "Neurolemmoma" EXACT []
synonym: "Schwann cell tumor" EXACT []
synonym: "Schwann cell tumour" EXACT []
synonym: "Schwannomas" RELATED [HPO:skoehler]
xref: MSH:D009442
xref: SNOMEDCT_US:404022001
xref: SNOMEDCT_US:985004
xref: UMLS:C0027809
is_a: HP:0100007 ! Neoplasm of the peripheral nervous system
created_by: doelkens
creation_date: 2010-05-14T09:13:07Z

[Term]
id: HP:0100009
name: Intracranial meningioma
xref: MSH:D008579
xref: SNOMEDCT_US:302820008
xref: UMLS:C0349604
is_a: HP:0002858 ! Meningioma
created_by: doelkens
creation_date: 2010-05-14T09:29:27Z

[Term]
id: HP:0100010
name: Spinal meningioma
xref: MSH:D008579
xref: NCIT:C3230
xref: SNOMEDCT_US:189167009
xref: UMLS:C0347515
is_a: HP:0002858 ! Meningioma
created_by: doelkens
creation_date: 2010-05-14T09:29:27Z

[Term]
id: HP:0100011
name: Scleral schwannoma
xref: NCIT:C3269
xref: UMLS:C4022390
is_a: HP:0000591 ! Abnormal sclera morphology
is_a: HP:0100008 ! Schwannoma
is_a: HP:0100012 ! Neoplasm of the eye
created_by: doelkens
creation_date: 2010-05-14T09:41:55Z

[Term]
id: HP:0100012
name: Neoplasm of the eye
def: "A tumor (abnormal growth of tissue) of the eye." [HPO:probinson]
synonym: "Eye tumor" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Neoplasia of the eye" RELATED []
xref: MSH:D005134
xref: NCIT:C3262
xref: SNOMEDCT_US:371486001
xref: UMLS:C0015414
is_a: HP:0011793 ! Neoplasm by anatomical site
is_a: HP:0012372 ! Abnormal eye morphology
created_by: doelkens
creation_date: 2010-05-14T09:43:34Z

[Term]
id: HP:0100013
name: Neoplasm of the breast
alt_id: HP:0010623
def: "A tumor (abnormal growth of tissue) of the breast." [HPO:probinson]
synonym: "Breast tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Neoplasia of the breast" RELATED []
synonym: "Tumours of the breast" EXACT layperson []
xref: MSH:D001943
xref: NCIT:C3262
xref: SNOMEDCT_US:126926005
xref: UMLS:C1458155
is_a: HP:0011793 ! Neoplasm by anatomical site
is_a: HP:0031093 ! Abnormal breast morphology
created_by: doelkens
creation_date: 2010-05-14T09:45:09Z

[Term]
id: HP:0100014
name: Epiretinal membrane
def: "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [HPO:sdoelken]
synonym: "Epiretinal membranes" RELATED [HPO:skoehler]
synonym: "Macular pucker" EXACT []
synonym: "Premacular fibrosis" EXACT []
xref: MSH:D019773
xref: SNOMEDCT_US:133853005
xref: SNOMEDCT_US:367649002
xref: UMLS:C0339543
is_a: HP:0030498 ! Macular thickening
created_by: doelkens
creation_date: 2010-05-14T09:53:27Z

[Term]
id: HP:0100015
name: Stahl ear
def: "The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix." [HPO:sdoelken]
comment: The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda, 1980].
synonym: "Additional crus" EXACT []
synonym: "Spock ear" EXACT layperson []
synonym: "Third crus" EXACT []
synonym: "Vulcan ear" EXACT layperson []
xref: SNOMEDCT_US:253252004
xref: UMLS:C1862689
is_a: HP:0011235 ! Additional crus of antihelix
created_by: doelkens
creation_date: 2010-05-25T10:30:14Z

[Term]
id: HP:0100016
name: Abnormality of mesentery morphology
def: "Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium)." [HPO:sdoelken]
synonym: "Abnormality of the mesentery" RELATED []
xref: UMLS:C4022389
is_a: HP:0002012 ! Abnormality of the abdominal organs
created_by: doelkens
creation_date: 2010-05-25T11:20:36Z

[Term]
id: HP:0100017
name: Capsular cataract
def: "A cataract that affects the capsule of the lens." [HPO:probinson]
xref: SNOMEDCT_US:204125003
xref: UMLS:C0339352
is_a: HP:0000518 ! Cataract
created_by: doelkens
creation_date: 2010-05-27T06:01:54Z

[Term]
id: HP:0100018
name: Nuclear cataract
alt_id: HP:0007672
alt_id: HP:0007781
alt_id: HP:0008024
def: "A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." [HPO:sdoelken]
subset: hposlim_core
synonym: "Yellowish cloudy center of lens" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:53889007
xref: UMLS:C0392557
is_a: HP:0010920 ! Zonular cataract
created_by: doelkens
creation_date: 2010-05-28T11:34:45Z

[Term]
id: HP:0100019
name: Cortical cataract
alt_id: HP:0007876
def: "A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance." [HPO:sdoelken]
subset: hposlim_core
xref: SNOMEDCT_US:193576003
xref: UMLS:C0271160
is_a: HP:0010920 ! Zonular cataract
created_by: doelkens
creation_date: 2010-05-28T11:35:33Z

[Term]
id: HP:0100020
name: Posterior capsular cataract
def: "A cataract which is found in the back outer layer of the lens. This type often develops more rapidly." [HPO:sdoelken]
xref: UMLS:C4022388
is_a: HP:0100017 ! Capsular cataract
created_by: doelkens
creation_date: 2010-05-28T11:36:49Z

[Term]
id: HP:0100021
name: Cerebral palsy
def: "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken]
synonym: "Cerebral paralysis" EXACT []
synonym: "CP" EXACT HP:0045077 []
xref: MSH:D002547
xref: SNOMEDCT_US:128188000
xref: UMLS:C0007789
is_a: HP:0011442 ! Abnormality of central motor function
is_a: HP:0100022 ! Abnormality of movement
created_by: doelkens
creation_date: 2010-05-28T11:46:16Z

[Term]
id: HP:0100022
name: Abnormality of movement
alt_id: HP:0001294
def: "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson]
comment: Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy.
synonym: "Abnormality of movement" EXACT layperson []
synonym: "Movement disorder" EXACT layperson []
synonym: "Unusual movement" EXACT layperson []
xref: MSH:D009069
xref: SNOMEDCT_US:60342002
xref: UMLS:C0026650
is_a: HP:0012638 ! Abnormality of nervous system physiology
created_by: doelkens
creation_date: 2010-05-28T11:48:50Z

[Term]
id: HP:0100023
name: Recurrent hand flapping
def: "A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down." [HPO:probinson]
xref: UMLS:C4022387
is_a: HP:0000733 ! Stereotypy
created_by: doelkens
creation_date: 2010-05-28T12:10:09Z

[Term]
id: HP:0100024
name: Conspicuously happy disposition
def: "An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger." [HPO:sdoelken]
synonym: "Conspicious happy aspect" EXACT []
synonym: "Happy aspect" EXACT []
xref: UMLS:C4021029
is_a: HP:0100851 ! Abnormal emotion/affect behavior
created_by: doelkens
creation_date: 2010-05-28T05:32:35Z

[Term]
id: HP:0100025
name: Overfriendliness
def: "A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction." [HPO:sdoelken]
synonym: "Overfriendliness" EXACT layperson []
xref: UMLS:C4022386
is_a: HP:0012433 ! Abnormal social behavior
created_by: doelkens
creation_date: 2010-05-28T05:42:06Z

[Term]
id: HP:0100026
name: Arteriovenous malformation
def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries." [HPO:probinson]
xref: MSH:D001165
xref: SNOMEDCT_US:234141001
xref: SNOMEDCT_US:24551003
xref: UMLS:C0003857
is_a: HP:0025015 ! Abnormal vascular morphology
created_by: doelkens
creation_date: 2010-05-31T05:32:31Z

[Term]
id: HP:0100027
name: Recurrent pancreatitis
def: "A recurrent form of pancreatitis." [HPO:probinson]
synonym: "Recurring pancreas inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Recurring pancreatitis" EXACT []
xref: MSH:D050500
xref: SNOMEDCT_US:233870001
xref: SNOMEDCT_US:234689009
xref: SNOMEDCT_US:235494005
xref: UMLS:C0149521
is_a: HP:0001733 ! Pancreatitis
created_by: doelkens
creation_date: 2010-06-01T01:45:23Z

[Term]
id: HP:0100028
name: Ectopic thyroid
def: "Mislocalised thyroid gland." [HPO:sdoelken]
comment: An aberrant or ectopic thyroid gland may occur anywhere along the path of initial descent of the thyroid. A total failure to descend contrasts with the incomplete descent of the thyroid, in which case the resulting final resting point of the gland may be high in the neck or just below the hyoid bone. Appart from an abnormal descent, accessory thyroid tissue can also occur, arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.
synonym: "Aberrant thyroid" EXACT [HPO:sdoelken]
synonym: "Aberrant thyroid gland" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormal thryoid location" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Ectopic thyroid gland" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Heteropic thyroid gland" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: MSH:D050033
xref: SNOMEDCT_US:214660000
xref: UMLS:C0266283
is_a: HP:0008188 ! Thyroid dysgenesis
created_by: doelkens
creation_date: 2010-06-10T10:16:37Z

[Term]
id: HP:0100029
name: Lingual thyroid
def: "An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend." [HPO:sdoelken]
comment: A lingual thyroid is the most common form of an aberrant thyroid gland.
xref: MSH:D046151
xref: SNOMEDCT_US:129123002
xref: SNOMEDCT_US:21279007
xref: UMLS:C0266284
is_a: HP:0100028 ! Ectopic thyroid
created_by: doelkens
creation_date: 2010-06-10T10:20:31Z

[Term]
id: HP:0100030
name: Accessory ectopic thyroid tissue
def: "Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract." [HPO:sdoelken]
comment: While the accessory thyroid tissue may be functional, it is generally insufficient for normal function if the main thyroid gland is entirely removed.
xref: UMLS:C4022385
is_a: HP:0100028 ! Ectopic thyroid
created_by: doelkens
creation_date: 2010-06-10T10:25:46Z

[Term]
id: HP:0100031
name: Neoplasm of the thyroid gland
def: "A tumor (abnormal growth of tissue) of the thyroid gland." [HPO:probinson]
synonym: "Neoplasia of the thyroid gland" RELATED []
xref: MSH:D013964
xref: NCIT:C3262
xref: SNOMEDCT_US:127018007
xref: UMLS:C0040136
is_a: HP:0011772 ! Abnormality of thyroid morphology
is_a: HP:0100568 ! Neoplasm of the endocrine system
created_by: doelkens
creation_date: 2010-06-10T10:30:24Z

[Term]
id: HP:0100033
name: Tics
def: "Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement." [HPO:sdoelken, PMID:20589866]
comment: Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics.
synonym: "Tic disorder" EXACT layperson []
synonym: "Tics" EXACT layperson []
xref: UMLS:C2169806
is_a: HP:0004305 ! Involuntary movements
created_by: doelkens
creation_date: 2010-06-10T12:10:29Z

[Term]
id: HP:0100034
name: Motor tics
def: "Movement-based tics affecting discrete muscle groups." [HPO:sdoelken]
xref: MSH:D020323
xref: UMLS:C0751900
is_a: HP:0100033 ! Tics
created_by: doelkens
creation_date: 2010-06-10T12:13:57Z

[Term]
id: HP:0100035
name: Phonic tics
def: "Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound." [HPO:sdoelken]
synonym: "Verbal tics" EXACT []
synonym: "Vocal tics" EXACT []
xref: MSH:D020323
xref: UMLS:C0751901
is_a: HP:0100033 ! Tics
created_by: doelkens
creation_date: 2010-06-10T12:13:57Z

[Term]
id: HP:0100036
name: Pseudo-fractures
def: "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture." [HPO:sdoelken]
comment: Typical sites of involvement are the axillary margins of the scapula, ribs, pubic rami, proximal ends of the femur and ulna. On x-rays pseudo-fractures appear as a lucent line about 1 -2 cm wide, vertical to the cortex and are pathognomonic of osteomalacia, seen on the concave side and are also seen in Paget disease on the convex side of the bone.
synonym: "Looser zones" EXACT []
xref: UMLS:C4021028
is_a: HP:0003103 ! Abnormal cortical bone morphology
created_by: doelkens
creation_date: 2010-06-14T05:25:53Z

[Term]
id: HP:0100037
name: Abnormality of the scalp hair
def: "An abnormality of the hair of head." [HPO:probinson]
synonym: "Abnormality of the scalp hair" EXACT layperson []
xref: UMLS:C4022384
is_a: HP:0001595 ! Abnormal hair morphology
is_a: HP:0001965 ! Abnormality of the scalp
created_by: doelkens
creation_date: 2010-06-22T05:29:31Z

[Term]
id: HP:0100038
name: Slow-growing scalp hair
alt_id: HP:0004553
def: "Scalp hair whose growth is slower than normal." [DDD:cmoss]
synonym: "Slow-growing scalp hair" EXACT layperson []
xref: UMLS:C4022383
is_a: HP:0002217 ! Slow-growing hair
is_a: HP:0100037 ! Abnormality of the scalp hair
created_by: doelkens
creation_date: 2010-06-22T05:46:59Z

[Term]
id: HP:0100039
name: Thickened cortex of bones
def: "An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones." [HPO:sdoelken]
xref: UMLS:C4022382
is_a: HP:0003103 ! Abnormal cortical bone morphology
created_by: doelkens
creation_date: 2010-06-24T09:39:01Z

[Term]
id: HP:0100040
name: Broad 2nd toe
def: "A broad appearance of the second toe." [HPO:sdoelken]
comment: Note that an apparent broad appearance might be due to a hidden duplication.
synonym: "Wide 2nd toe" EXACT layperson []
xref: UMLS:C4022381
is_a: HP:0001837 ! Broad toe
is_a: HP:0010319 ! Abnormality of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:52:57Z

[Term]
id: HP:0100041
name: Broad 3rd toe
def: "A broad appearance of the third toe." [HPO:sdoelken]
synonym: "Broad 3rd toe" EXACT layperson []
synonym: "Wide 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022380
is_a: HP:0001837 ! Broad toe
is_a: HP:0010320 ! Abnormality of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:54:55Z

[Term]
id: HP:0100042
name: Broad 4th toe
def: "A broad appearance of the fourth toe." [HPO:sdoelken]
synonym: "Broad 4th toe" EXACT layperson []
synonym: "Wide 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022379
is_a: HP:0001837 ! Broad toe
is_a: HP:0010321 ! Abnormality of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:55:43Z

[Term]
id: HP:0100043
name: Broad 5th toe
def: "A broad appearance of the fifth toe." [HPO:sdoelken]
synonym: "Broad 5th toe" EXACT layperson []
synonym: "Broad little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022378
is_a: HP:0001837 ! Broad toe
is_a: HP:0010322 ! Abnormality of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T09:56:25Z

[Term]
id: HP:0100044
name: Absent epiphyses of the 2nd toe
synonym: "Absent end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022377
is_a: HP:0010162 ! Absent epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100045
name: Bracket epiphyses of the 2nd toe
synonym: "Bracket shaped end part of 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022376
is_a: HP:0010163 ! Bracket epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100046
name: Cone-shaped epiphyses of the 2nd toe
synonym: "Cone-shaped end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022375
is_a: HP:0010164 ! Cone-shaped epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100047
name: Enlarged epiphyses of the 2nd toe
synonym: "Enlarged end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022374
is_a: HP:0010165 ! Enlarged epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100048
name: Fragmentation of the epiphyses of the 2nd toe
synonym: "Fragmentation of the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022373
is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100049
name: Irregular epiphyses of the 2nd toe
synonym: "Irregular end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022372
is_a: HP:0010167 ! Irregular epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100050
name: Ivory epiphyses of the 2nd toe
def: "Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Increased bone density of end part of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022371
is_a: HP:0010168 ! Ivory epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100051
name: Pseudoepiphyses of the 2nd toe
xref: UMLS:C4022370
is_a: HP:0010169 ! Pseudoepiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100052
name: Small epiphyses of the 2nd toe
synonym: "Small end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022369
is_a: HP:0010170 ! Small epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100053
name: Stippling of the epiphyses of the 2nd toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022368
is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100054
name: Triangular epiphyses of the 2nd toe
synonym: "Triangular end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022367
is_a: HP:0010172 ! Triangular epiphyses of the toes
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:18Z

[Term]
id: HP:0100055
name: Absent epiphyses of the 3rd toe
synonym: "Absent end part of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022366
is_a: HP:0010162 ! Absent epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100056
name: Bracket epiphyses of the 3rd toe
synonym: "Bracket shaped end part of 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022365
is_a: HP:0010163 ! Bracket epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100057
name: Cone-shaped epiphyses of the 3rd toe
synonym: "Cone-shaped end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022364
is_a: HP:0010164 ! Cone-shaped epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100058
name: Enlarged epiphyses of the 3rd toe
synonym: "Enlarged end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022363
is_a: HP:0010165 ! Enlarged epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100059
name: Fragmentation of the epiphyses of the 3rd toe
synonym: "Fragmentation of the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022362
is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100060
name: Irregular epiphyses of the 3rd toe
synonym: "Irregular end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022361
is_a: HP:0010167 ! Irregular epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100061
name: Ivory epiphyses of the 3rd toe
def: "Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Increased bone density of end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022360
is_a: HP:0010168 ! Ivory epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100062
name: Pseudoepiphyses of the 3rd toe
xref: UMLS:C4022359
is_a: HP:0010169 ! Pseudoepiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100063
name: Small epiphyses of the 3rd toe
synonym: "Small end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022358
is_a: HP:0010170 ! Small epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100064
name: Stippling of the epiphyses of the 3rd toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022357
is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100065
name: Triangular epiphyses of the 3rd toe
synonym: "Triangular end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022356
is_a: HP:0010172 ! Triangular epiphyses of the toes
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T09:58:55Z

[Term]
id: HP:0100066
name: Absent epiphyses of the 4th toe
synonym: "Absent end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022355
is_a: HP:0010162 ! Absent epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100067
name: Bracket epiphyses of the 4th toe
synonym: "Bracket shaped end part of 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022354
is_a: HP:0010163 ! Bracket epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100068
name: Cone-shaped epiphyses of the 4th toe
synonym: "Cone-shaped end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022353
is_a: HP:0010164 ! Cone-shaped epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100069
name: Enlarged epiphyses of the 4th toe
synonym: "Enlarged end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022352
is_a: HP:0010165 ! Enlarged epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100070
name: Fragmentation of the epiphyses of the 4th toe
synonym: "Fragmentation of the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022351
is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100071
name: Irregular epiphyses of the 4th toe
synonym: "Irregular end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022350
is_a: HP:0010167 ! Irregular epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100072
name: Ivory epiphyses of the 4th toe
def: "Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Increased bone density of end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022349
is_a: HP:0010168 ! Ivory epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100073
name: Pseudoepiphyses of the 4th toe
xref: UMLS:C4022348
is_a: HP:0010169 ! Pseudoepiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100074
name: Small epiphyses of the 4th toe
synonym: "Small end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022347
is_a: HP:0010170 ! Small epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100075
name: Stippling of the epiphyses of the 4th toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022346
is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100076
name: Triangular epiphyses of the 4th toe
synonym: "Triangular end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022345
is_a: HP:0010172 ! Triangular epiphyses of the toes
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T09:59:30Z

[Term]
id: HP:0100077
name: Absent epiphyses of the 5th toe
synonym: "Absent end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022344
is_a: HP:0010162 ! Absent epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100078
name: Bracket epiphyses of the 5th toe
synonym: "Bracket shaped end part of little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022343
is_a: HP:0010163 ! Bracket epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100079
name: Cone-shaped epiphyses of the 5th toe
synonym: "Cone-shaped end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022342
is_a: HP:0010164 ! Cone-shaped epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100080
name: Enlarged epiphyses of the 5th toe
synonym: "Enlarged end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022341
is_a: HP:0010165 ! Enlarged epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100081
name: Fragmentation of the epiphyses of the 5th toe
synonym: "Fragmentation of the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022340
is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100082
name: Irregular epiphyses of the 5th toe
synonym: "Irregular end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022339
is_a: HP:0010167 ! Irregular epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100083
name: Ivory epiphyses of the 5th toe
def: "Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson]
synonym: "Increased bone density of end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022338
is_a: HP:0010168 ! Ivory epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100084
name: Pseudoepiphyses of the 5th toe
xref: UMLS:C4022337
is_a: HP:0010169 ! Pseudoepiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100085
name: Small epiphyses of the 5th toe
synonym: "Small end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022336
is_a: HP:0010170 ! Small epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100086
name: Stippling of the epiphyses of the 5th toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022335
is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100087
name: Triangular epiphyses of the 5th toe
synonym: "Triangular end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022334
is_a: HP:0010172 ! Triangular epiphyses of the toes
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:00:02Z

[Term]
id: HP:0100088
name: Abnormality of the epiphysis of the distal phalanx of the 2nd toe
synonym: "Abnormality of the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022333
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:01:42Z

[Term]
id: HP:0100089
name: Abnormality of the epiphysis of the middle phalanx of the 2nd toe
synonym: "Abnormality of the end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022332
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:01:42Z

[Term]
id: HP:0100090
name: Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
synonym: "Abnormality of the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022331
is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:01:42Z

[Term]
id: HP:0100091
name: Abnormality of the epiphysis of the distal phalanx of the 3rd toe
synonym: "Abnormality of the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022330
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:02:07Z

[Term]
id: HP:0100092
name: Abnormality of the epiphysis of the middle phalanx of the 3rd toe
synonym: "Abnormality of the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022329
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:02:07Z

[Term]
id: HP:0100093
name: Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
synonym: "Abnormality of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022328
is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:02:07Z

[Term]
id: HP:0100094
name: Abnormality of the epiphysis of the distal phalanx of the 4th toe
synonym: "Abnormality of the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022327
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T10:02:24Z

[Term]
id: HP:0100095
name: Abnormality of the epiphysis of the middle phalanx of the 4th toe
synonym: "Abnormality of the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022326
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T10:02:24Z

[Term]
id: HP:0100096
name: Abnormality of the epiphysis of the proximal phalanx of the 4th toe
synonym: "Abnormality of the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022325
is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T10:02:24Z

[Term]
id: HP:0100097
name: Abnormality of the epiphysis of the distal phalanx of the 5th toe
synonym: "Abnormality of the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022324
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:02:41Z

[Term]
id: HP:0100098
name: Abnormality of the epiphysis of the middle phalanx of the 5th toe
synonym: "Abnormality of the end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022323
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:02:41Z

[Term]
id: HP:0100099
name: Abnormality of the epiphysis of the proximal phalanx of the 5th toe
synonym: "Abnormality of the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022322
is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T10:02:41Z

[Term]
id: HP:0100100
name: Absent epiphysis of the distal phalanx of the 2nd toe
synonym: "Absent end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022321
is_a: HP:0100044 ! Absent epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100101
name: Bracket epiphysis of the distal phalanx of the 2nd toe
synonym: "Bracket shaped end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022320
is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100102
name: Cone-shaped epiphysis of the distal phalanx of the 2nd toe
synonym: "Cone-shaped end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022319
is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100103
name: Enlarged epiphysis of the distal phalanx of the 2nd toe
synonym: "Enlarged end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022318
is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100104
name: Fragmentation of the epiphysis of the distal phalanx of the 2nd toe
synonym: "Fragmentation of the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022317
is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100105
name: Irregular epiphysis of the distal phalanx of the 2nd toe
synonym: "Irregular end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022316
is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100106
name: Ivory epiphysis of the distal phalanx of the 2nd toe
synonym: "Increased bone density of end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022315
is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100107
name: Pseudoepiphysis of the distal phalanx of the 2nd toe
xref: UMLS:C4022314
is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100108
name: Small epiphysis of the distal phalanx of the 2nd toe
synonym: "Small end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022313
is_a: HP:0100052 ! Small epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100109
name: Stippling of the epiphysis of the distal phalanx of the 2nd toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022312
is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100110
name: Triangular epiphysis of the distal phalanx of the 2nd toe
synonym: "Triangular end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022311
is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe
is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:04:20Z

[Term]
id: HP:0100111
name: Absent epiphysis of the middle phalanx of the 2nd toe
synonym: "Absent end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022310
is_a: HP:0100044 ! Absent epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100112
name: Bracket epiphysis of the middle phalanx of the 2nd toe
synonym: "Bracket shaped end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022309
is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100113
name: Cone-shaped epiphysis of the middle phalanx of the 2nd toe
synonym: "Cone-shaped end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022308
is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100114
name: Enlarged epiphysis of the middle phalanx of the 2nd toe
synonym: "Enlarged end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022307
is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100115
name: Fragmentation of the epiphysis of the middle phalanx of the 2nd toe
synonym: "Fragmentation of the end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022306
is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100116
name: Irregular epiphysis of the middle phalanx of the 2nd toe
synonym: "Irregular end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022305
is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100117
name: Ivory epiphysis of the middle phalanx of the 2nd toe
synonym: "Increased bone density of end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022304
is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100118
name: Pseudoepiphysis of the middle phalanx of the 2nd toe
xref: UMLS:C4022303
is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100119
name: Small epiphysis of the middle phalanx of the 2nd toe
synonym: "Small end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022302
is_a: HP:0100052 ! Small epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100120
name: Stippling of the epiphysis of the middle phalanx of the 2nd toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe." [HPO:curators]
synonym: "Speckled calcifications in of the end part of the middle bone of the 2nd toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022301
is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100121
name: Triangular epiphysis of the middle phalanx of the 2nd toe
synonym: "Triangular end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022300
is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe
is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:05:37Z

[Term]
id: HP:0100122
name: Absent epiphysis of the proximal phalanx of the 2nd toe
synonym: "Absent end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022299
is_a: HP:0100044 ! Absent epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100123
name: Bracket epiphysis of the proximal phalanx of the 2nd toe
synonym: "Bracket shaped end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022298
is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100124
name: Cone-shaped epiphysis of the proximal phalanx of the 2nd toe
synonym: "Cone-shaped end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022297
is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100125
name: Enlarged epiphysis of the proximal phalanx of the 2nd toe
synonym: "Enlarged end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022296
is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100126
name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe
synonym: "Fragmentation of the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022295
is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100127
name: Irregular epiphysis of the proximal phalanx of the 2nd toe
synonym: "Irregular end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022294
is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100128
name: Ivory epiphysis of the proximal phalanx of the 2nd toe
synonym: "Increased bone density of end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022293
is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100129
name: Pseudoepiphysis of the proximal phalanx of the 2nd toe
xref: UMLS:C4022292
is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100130
name: Small epiphysis of the proximal phalanx of the 2nd toe
synonym: "Small end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022291
is_a: HP:0100052 ! Small epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100131
name: Stippling of the epiphysis of the proximal phalanx of the 2nd toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022290
is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100132
name: Triangular epiphysis of the proximal phalanx of the 2nd toe
synonym: "Triangular end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022289
is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe
is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
created_by: doelkens
creation_date: 2010-06-24T10:06:29Z

[Term]
id: HP:0100133
name: Abnormality of the pubic hair
def: "Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty." [HPO:sdoelken]
synonym: "Abnormality of the pubic hair" EXACT layperson []
xref: UMLS:C4022288
is_a: HP:0009888 ! Abnormality of secondary sexual hair
created_by: doelkens
creation_date: 2010-06-24T10:15:30Z

[Term]
id: HP:0100134
name: Abnormality of the axillary hair
def: "Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty." [HPO:sdoelken]
xref: UMLS:C4022287
is_a: HP:0009888 ! Abnormality of secondary sexual hair
created_by: doelkens
creation_date: 2010-06-24T10:17:00Z

[Term]
id: HP:0100135
name: Absent epiphysis of the distal phalanx of the 3rd toe
synonym: "Absent end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022286
is_a: HP:0100055 ! Absent epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100136
name: Bracket epiphysis of the distal phalanx of the 3rd toe
synonym: "Bracket shaped end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022285
is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100137
name: Cone-shaped epiphysis of the distal phalanx of the 3rd toe
synonym: "Cone-shaped end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022284
is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100138
name: Enlarged epiphysis of the distal phalanx of the 3rd toe
synonym: "Enlarged end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022283
is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100139
name: Fragmentation of the epiphysis of the distal phalanx of the 3rd toe
synonym: "Fragmentation of the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022282
is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100140
name: Irregular epiphysis of the distal phalanx of the 3rd toe
synonym: "Irregular end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022281
is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100141
name: Ivory epiphysis of the distal phalanx of the 3rd toe
synonym: "Increased bone density of end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022280
is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100142
name: Pseudoepiphysis of the distal phalanx of the 3rd toe
xref: UMLS:C4022279
is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100143
name: Small epiphysis of the distal phalanx of the 3rd toe
synonym: "Small end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022278
is_a: HP:0100063 ! Small epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100144
name: Stippling of the epiphysis of the distal phalanx of the 3rd toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022277
is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100145
name: Triangular epiphysis of the distal phalanx of the 3rd toe
synonym: "Triangular end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022276
is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe
is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:23:44Z

[Term]
id: HP:0100146
name: Absent epiphysis of the middle phalanx of the 3rd toe
synonym: "Absent end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022275
is_a: HP:0100055 ! Absent epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100147
name: Bracket epiphysis of the middle phalanx of the 3rd toe
synonym: "Bracket shaped end part of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022274
is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100148
name: Cone-shaped epiphysis of the middle phalanx of the 3rd toe
synonym: "Cone-shaped end part of the middle bone of the 3rd toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022273
is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100149
name: Enlarged epiphysis of the middle phalanx of the 3rd toe
synonym: "Enlarged end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022272
is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100150
name: Fragmentation of the epiphysis of the middle phalanx of the 3rd toe
synonym: "Fragmentation of the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022271
is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100151
name: Irregular epiphysis of the middle phalanx of the 3rd toe
synonym: "Irregular end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022270
is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100152
name: Ivory epiphysis of the middle phalanx of the 3rd toe
synonym: "Increased bone density of end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022269
is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100153
name: Pseudoepiphysis of the middle phalanx of the 3rd toe
xref: UMLS:C4022268
is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100154
name: Small epiphysis of the middle phalanx of the 3rd toe
synonym: "Small end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022267
is_a: HP:0100063 ! Small epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100155
name: Stippling of the epiphysis of the middle phalanx of the 3rd toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022266
is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100156
name: Triangular epiphysis of the middle phalanx of the 3rd toe
synonym: "Triangular end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022265
is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe
is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:13Z

[Term]
id: HP:0100157
name: Absent epiphysis of the proximal phalanx of the 3rd toe
synonym: "Absent end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022264
is_a: HP:0100055 ! Absent epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100158
name: Bracket epiphysis of the proximal phalanx of the 3rd toe
synonym: "Bracket shaped end part of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022263
is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100159
name: Cone-shaped epiphysis of the proximal phalanx of the 3rd toe
synonym: "Cone-shaped end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022262
is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100160
name: Enlarged epiphysis of the proximal phalanx of the 3rd toe
synonym: "Enlarged end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022261
is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100161
name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe
synonym: "Fragmentation of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022260
is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100162
name: Irregular epiphysis of the proximal phalanx of the 3rd toe
synonym: "Irregular end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022259
is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100163
name: Ivory epiphysis of the proximal phalanx of the 3rd toe
synonym: "Increased bone density of end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022258
is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100164
name: Pseudoepiphysis of the proximal phalanx of the 3rd toe
xref: UMLS:C4022257
is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100165
name: Small epiphysis of the proximal phalanx of the 3rd toe
synonym: "Small end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022256
is_a: HP:0100063 ! Small epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100166
name: Stippling of the epiphysis of the proximal phalanx of the 3rd toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe." [HPO:curators]
synonym: "Speckled calcifications in of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022255
is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100167
name: Triangular epiphysis of the proximal phalanx of the 3rd toe
synonym: "Triangular end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022254
is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe
is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
created_by: doelkens
creation_date: 2010-06-24T10:24:45Z

[Term]
id: HP:0100168
name: Fragmented epiphyses
def: "Fragmented appearance of the epiphyses." [HPO:sdoelken]
synonym: "Fragmented end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022253
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: doelkens
creation_date: 2010-06-24T11:07:51Z

[Term]
id: HP:0100169
name: Absent epiphysis of the distal phalanx of the 4th toe
synonym: "Absent end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022252
is_a: HP:0100066 ! Absent epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100170
name: Bracket epiphysis of the distal phalanx of the 4th toe
synonym: "Bracket shaped end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022251
is_a: HP:0100067 ! Bracket epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100171
name: Cone-shaped epiphysis of the distal phalanx of the 4th toe
synonym: "Cone-shaped end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022250
is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100172
name: Enlarged epiphysis of the distal phalanx of the 4th toe
synonym: "Enlarged end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022249
is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100173
name: Fragmentation of the epiphysis of the distal phalanx of the 4th toe
synonym: "Fragmentation of the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022248
is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100174
name: Irregular epiphysis of the distal phalanx of the 4th toe
synonym: "Irregular end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022247
is_a: HP:0100071 ! Irregular epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100175
name: Ivory epiphysis of the distal phalanx of the 4th toe
synonym: "Increased bone density of end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022246
is_a: HP:0100072 ! Ivory epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100176
name: Pseudoepiphysis of the distal phalanx of the 4th toe
xref: UMLS:C4022245
is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100177
name: Small epiphysis of the distal phalanx of the 4th toe
synonym: "Small end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022244
is_a: HP:0100074 ! Small epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100178
name: Stippling of the epiphysis of the distal phalanx of the 4th toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022243
is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100179
name: Triangular epiphysis of the distal phalanx of the 4th toe
synonym: "Triangular end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022242
is_a: HP:0100076 ! Triangular epiphyses of the 4th toe
is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:53:36Z

[Term]
id: HP:0100180
name: Absent epiphysis of the middle phalanx of the 4th toe
synonym: "Absent end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022241
is_a: HP:0100066 ! Absent epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100181
name: Bracket epiphysis of the middle phalanx of the 4th toe
synonym: "Bracket shaped end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022240
is_a: HP:0100067 ! Bracket epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100182
name: Cone-shaped epiphysis of the middle phalanx of the 4th toe
synonym: "Cone-shaped end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022239
is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100183
name: Enlarged epiphysis of the middle phalanx of the 4th toe
synonym: "Enlarged end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022238
is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100184
name: Fragmentation of the epiphysis of the middle phalanx of the 4th toe
synonym: "Fragmentation of the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022237
is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100185
name: Irregular epiphysis of the middle phalanx of the 4th toe
synonym: "Irregular end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022236
is_a: HP:0100071 ! Irregular epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100186
name: Ivory epiphysis of the middle phalanx of the 4th toe
synonym: "Increased bone density of end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022235
is_a: HP:0100072 ! Ivory epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100187
name: Pseudoepiphysis of the middle phalanx of the 4th toe
xref: UMLS:C4022234
is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100188
name: Small epiphysis of the middle phalanx of the 4th toe
synonym: "Small end part of middle long bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022233
is_a: HP:0100074 ! Small epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100189
name: Stippling of the epiphysis of the middle phalanx of the 4th toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022232
is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100190
name: Triangular epiphysis of the middle phalanx of the 4th toe
synonym: "Triangular end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022231
is_a: HP:0100076 ! Triangular epiphyses of the 4th toe
is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:13Z

[Term]
id: HP:0100191
name: Absent epiphysis of the proximal phalanx of the 4th toe
synonym: "Absent end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022230
is_a: HP:0100066 ! Absent epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100192
name: Bracket epiphysis of the proximal phalanx of the 4th toe
synonym: "Bracket shaped end part of the innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022229
is_a: HP:0100067 ! Bracket epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100193
name: Cone-shaped epiphysis of the proximal phalanx of the 4th toe
synonym: "Cone-shaped end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022228
is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100194
name: Enlarged epiphysis of the proximal phalanx of the 4th toe
synonym: "Enlarged end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022227
is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100195
name: Fragmentation of the epiphysis of the proximal phalanx of the 4th toe
synonym: "Fragmentation of the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022226
is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100196
name: Irregular epiphysis of the proximal phalanx of the 4th toe
synonym: "Irregular end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022225
is_a: HP:0100071 ! Irregular epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100197
name: Ivory epiphysis of the proximal phalanx of the 4th toe
synonym: "Increased bone density of end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022224
is_a: HP:0100072 ! Ivory epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100198
name: Pseudoepiphysis of the proximal phalanx of the 4th toe
xref: UMLS:C4022223
is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100199
name: Small epiphysis of the proximal phalanx of the 4th toe
synonym: "Small end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022222
is_a: HP:0100074 ! Small epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100200
name: Stippling of the epiphysis of the proximal phalanx of the 4th toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022221
is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100201
name: Triangular epiphysis of the proximal phalanx of the 4th toe
synonym: "Triangular end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022220
is_a: HP:0100076 ! Triangular epiphyses of the 4th toe
is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe
created_by: doelkens
creation_date: 2010-06-24T04:54:59Z

[Term]
id: HP:0100202
name: Absent epiphysis of the distal phalanx of the 5th toe
synonym: "Absent end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022219
is_a: HP:0100077 ! Absent epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100203
name: Bracket epiphysis of the distal phalanx of the 5th toe
synonym: "Bracket shaped end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022218
is_a: HP:0100078 ! Bracket epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100204
name: Cone-shaped epiphysis of the distal phalanx of the 5th toe
synonym: "Cone-shaped end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022217
is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100205
name: Enlarged epiphysis of the distal phalanx of the 5th toe
synonym: "Enlarged end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022216
is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100206
name: Fragmentation of the epiphysis of the distal phalanx of the 5th toe
synonym: "Fragmentation of the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022215
is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100207
name: Irregular epiphysis of the distal phalanx of the 5th toe
synonym: "Irregular end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022214
is_a: HP:0100082 ! Irregular epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100208
name: Ivory epiphysis of the distal phalanx of the 5th toe
synonym: "Increased bone density of end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022213
is_a: HP:0100083 ! Ivory epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100209
name: Pseudoepiphysis of the distal phalanx of the 5th toe
xref: UMLS:C4022212
is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100210
name: Small epiphysis of the distal phalanx of the 5th toe
synonym: "Small end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022211
is_a: HP:0100085 ! Small epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100211
name: Stippling of the epiphysis of the distal phalanx of the 5th toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022210
is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100212
name: Triangular epiphysis of the distal phalanx of the 5th toe
synonym: "Triangular end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022209
is_a: HP:0100087 ! Triangular epiphyses of the 5th toe
is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:03:31Z

[Term]
id: HP:0100213
name: Absent epiphysis of the middle phalanx of the 5th toe
synonym: "Absent end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022208
is_a: HP:0100077 ! Absent epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100214
name: Bracket epiphysis of the middle phalanx of the 5th toe
synonym: "Bracket shaped end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022207
is_a: HP:0100078 ! Bracket epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100215
name: Cone-shaped epiphysis of the middle phalanx of the 5th toe
synonym: "Cone-shaped end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022206
is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100216
name: Enlarged epiphysis of the middle phalanx of the 5th toe
synonym: "Enlarged end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022205
is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100217
name: Fragmentation of the epiphysis of the middle phalanx of the 5th toe
synonym: "Fragmentation of the end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022204
is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100218
name: Irregular epiphysis of the middle phalanx of the 5th toe
synonym: "Irregular end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022203
is_a: HP:0100082 ! Irregular epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100219
name: Ivory epiphysis of the middle phalanx of the 5th toe
synonym: "Increased bone density of end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022202
is_a: HP:0100083 ! Ivory epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100220
name: Pseudoepiphysis of the middle phalanx of the 5th toe
xref: UMLS:C4022201
is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100221
name: Small epiphysis of the middle phalanx of the 5th toe
synonym: "Small end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022200
is_a: HP:0100085 ! Small epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100222
name: Stippling of the epiphysis of the middle phalanx of the 5th toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe." [HPO:curators]
synonym: "Speckled calcifications in end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022199
is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100223
name: Triangular epiphysis of the middle phalanx of the 5th toe
synonym: "Triangular end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022198
is_a: HP:0100087 ! Triangular epiphyses of the 5th toe
is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:00Z

[Term]
id: HP:0100224
name: Absent epiphysis of the proximal phalanx of the 5th toe
synonym: "Absent end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022197
is_a: HP:0100077 ! Absent epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100225
name: Bracket epiphysis of the proximal phalanx of the 5th toe
synonym: "Bracket shaped end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bracket shaped end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022196
is_a: HP:0100078 ! Bracket epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100226
name: Cone-shaped epiphysis of the proximal phalanx of the 5th toe
synonym: "Cone-shaped end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Cone-shaped end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022195
is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100227
name: Enlarged epiphysis of the proximal phalanx of the 5th toe
synonym: "Enlarged end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Enlarged end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022194
is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100228
name: Fragmentation of the epiphysis of the proximal phalanx of the 5th toe
synonym: "Fragmentation of the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fragmentation of the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022193
is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100229
name: Irregular epiphysis of the proximal phalanx of the 5th toe
synonym: "Irregular end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Irregular end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022192
is_a: HP:0100082 ! Irregular epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100230
name: Ivory epiphysis of the proximal phalanx of the 5th toe
synonym: "Increased bone density of end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density of end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022191
is_a: HP:0100083 ! Ivory epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100231
name: Pseudoepiphysis of the proximal phalanx of the 5th toe
xref: UMLS:C4022190
is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100232
name: Small epiphysis of the proximal phalanx of the 5th toe
synonym: "Small end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Small end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022189
is_a: HP:0100085 ! Small epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100233
name: Stippling of the epiphysis of the proximal phalanx of the 5th toe
def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe." [HPO:curators]
synonym: "Speckled calcifications in the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Speckled calcifications in the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022188
is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100234
name: Triangular epiphysis of the proximal phalanx of the 5th toe
synonym: "Triangular end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022187
is_a: HP:0100087 ! Triangular epiphyses of the 5th toe
is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe
created_by: doelkens
creation_date: 2010-06-24T05:04:53Z

[Term]
id: HP:0100235
name: Synostosis involving bones of the toes
synonym: "Fusion involving bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022186
is_a: HP:0009140 ! Synostosis involving bones of the feet
is_a: HP:0100262 ! Synostosis involving digits
created_by: doelkens
creation_date: 2010-06-24T05:26:38Z

[Term]
id: HP:0100237
name: Proximal foot symphalangism
xref: UMLS:C4022185
is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes
is_a: HP:0100235 ! Synostosis involving bones of the toes
is_a: HP:0100264 ! Proximal symphalangism
created_by: doelkens
creation_date: 2010-06-24T05:37:18Z

[Term]
id: HP:0100238
name: Synostosis involving bones of the upper limbs
def: "An abnormal union between bones or parts of bones of the upper limbs." [HPO:sdoelken]
synonym: "Fusion involving bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022184
is_a: HP:0009810 ! Abnormality of upper limb joint
is_a: HP:0100240 ! Synostosis of joints
created_by: doelkens
creation_date: 2010-06-24T05:49:08Z

[Term]
id: HP:0100240
name: Synostosis of joints
def: "The abnormal fusion of neighboring bones across a joint." [HPO:probinson]
comment: Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces.
synonym: "Bony ankylosis" EXACT []
synonym: "Fusion of joints" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022183
is_a: HP:0011729 ! Abnormality of joint mobility
created_by: doelkens
creation_date: 2010-06-24T06:04:02Z

[Term]
id: HP:0100241
name: Ectopic respiratory mucosa
def: "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations." [HPO:sdoelken]
comment: Ectopic respiratory mucosa is a very rare finding and has been associated with unilateral skeletal malformation, most commonly with preaxial polydactyly which may be mirror-image like.
xref: UMLS:C4022182
is_a: HP:0002973 ! Abnormality of the forearm
is_a: HP:0012253 ! Abnormal respiratory epithelium morphology
created_by: doelkens
creation_date: 2010-06-29T11:18:12Z

[Term]
id: HP:0100242
name: Sarcoma
def: "A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant." [HPO:sdoelken]
comment: A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels).
synonym: "Cancer of connective tissue" EXACT layperson []
synonym: "Malignant connective tissue tumor" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D012509
xref: NCIT:C9118
xref: SNOMEDCT_US:2424003
xref: SNOMEDCT_US:269469005
xref: SNOMEDCT_US:424413001
xref: SNOMEDCT_US:424952003
xref: UMLS:C1261473
is_a: HP:0011792 ! Neoplasm by histology
created_by: doelkens
creation_date: 2010-07-08T10:43:57Z

[Term]
id: HP:0100243
name: Leiomyosarcoma
def: "A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma." [HPO:sdoelken]
xref: MSH:D007890
xref: NCIT:C3158
xref: SNOMEDCT_US:443719001
xref: SNOMEDCT_US:51549004
xref: UMLS:C0023269
is_a: HP:0030448 ! Soft tissue sarcoma
created_by: doelkens
creation_date: 2010-07-08T10:49:35Z

[Term]
id: HP:0100244
name: Fibrosarcoma
def: "A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells." [HPO:sdoelken]
xref: MSH:D005354
xref: NCIT:C6605
xref: SNOMEDCT_US:443250000
xref: SNOMEDCT_US:53654007
xref: UMLS:C0016057
is_a: HP:0030448 ! Soft tissue sarcoma
created_by: doelkens
creation_date: 2010-07-08T10:55:40Z

[Term]
id: HP:0100245
name: Desmoid tumors
def: "Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine." [HPO:sdoelken]
comment: Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors.\nRisk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery.
xref: MSH:D018222
xref: NCIT:C3042
xref: SNOMEDCT_US:399994005
xref: SNOMEDCT_US:400055004
xref: SNOMEDCT_US:47284001
xref: UMLS:C0079218
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
is_a: HP:0010614 ! Fibroma
is_a: HP:0100244 ! Fibrosarcoma
created_by: doelkens
creation_date: 2010-07-08T10:57:06Z

[Term]
id: HP:0100246
name: Osteoma
def: "Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant." [HPO:sdoelken]
xref: MSH:D010016
xref: NCIT:C3296
xref: SNOMEDCT_US:302858007
xref: SNOMEDCT_US:83612000
xref: UMLS:C0029440
is_a: HP:0010622 ! Neoplasm of the skeletal system
created_by: doelkens
creation_date: 2010-07-08T11:38:30Z

[Term]
id: HP:0100247
name: Recurrent singultus
def: "A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc." [HPO:sdoelken]
comment: A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves.
synonym: "Hiccup" RELATED layperson []
synonym: "Hiccups" RELATED [HPO:skoehler]
synonym: "Recurrent hiccough" EXACT []
synonym: "Recurrent hiccup" EXACT layperson []
synonym: "Recurrent synchronous diaphragmatic flutter" EXACT []
xref: MSH:D006606
xref: SNOMEDCT_US:65958008
xref: UMLS:C0019521
xref: UMLS:C0744897
is_a: HP:0002795 ! Functional respiratory abnormality
created_by: doelkens
creation_date: 2010-07-08T05:28:00Z

[Term]
id: HP:0100248
name: Hemiballismus
def: "Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements." [HPO:sdoelken]
comment: Hemiballismus is a very rare movement disorder. It is five hundred times rarer than Parkinson disease. Its effects can sometimes be severe enough to prevent patients from being able to perform daily functions. It is usually associated with structural brain lesions but can occur with metabolic abnormalities. The symptoms can also decrease while the patient is asleep, unlike some movement disorders. Ballism refers to very large-amplitude choreic movements of the proximal parts of the limbs, causing flinging and flailing limb movements. Ballism is most frequently unilateral, in which case it is referred to as hemiballism
synonym: "Ballismus" RELATED []
xref: MSH:D020820
xref: SNOMEDCT_US:66637005
xref: UMLS:C0221169
is_a: HP:0002134 ! Abnormality of the basal ganglia
is_a: HP:0004305 ! Involuntary movements
created_by: doelkens
creation_date: 2010-07-09T12:21:41Z

[Term]
id: HP:0100249
name: Calcification of muscles
def: "Deposition of calcium salts in muscle tissue." [HPO:probinson]
synonym: "Skeletal muscle calcinosis" EXACT []
xref: SNOMEDCT_US:446993003
xref: UMLS:C2960760
is_a: HP:0010766 ! Ectopic calcification
is_a: HP:0011805 ! Abnormal muscle morphology
created_by: doelkens
creation_date: 2010-07-09T12:32:25Z

[Term]
id: HP:0100250
name: Meningeal calcification
def: "Calcium deposition affecting the Meninges." [HPO:sdoelken]
comment: In general, meningeal calcifications are plaque-like and bilateral as seen on CT-scans.
xref: UMLS:C4022181
is_a: HP:0002514 ! Cerebral calcification
is_a: HP:0010651 ! Abnormal meningeal morphology
created_by: doelkens
creation_date: 2010-07-14T03:41:34Z

[Term]
id: HP:0100251
name: Multiple central nervous system lipomas
def: "The presence of mulitple lipomas located in the central nervous system." [PMID:26942290]
synonym: "Lipomas of the central nervous system" EXACT []
xref: NCIT:C3192
xref: UMLS:C4022180
is_a: HP:0001012 ! Multiple lipomas
is_a: HP:0100835 ! Benign neoplasm of the central nervous system
created_by: doelkens
creation_date: 2010-07-14T03:55:50Z

[Term]
id: HP:0100252
name: Diaphyseal dysplasia
xref: MSH:D003966
xref: SNOMEDCT_US:318761000119105
xref: SNOMEDCT_US:34643004
xref: UMLS:C0011989
is_a: HP:0000940 ! Abnormal diaphysis morphology
is_a: HP:0002652 ! Skeletal dysplasia
created_by: doelkens
creation_date: 2010-07-14T05:01:38Z

[Term]
id: HP:0100253
name: Abnormality of the medullary cavity of the long bones
def: "An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored." [HPO:sdoelken]
synonym: "Abnormality of the marrow cavity of the long bones" EXACT layperson []
xref: UMLS:C4021027
is_a: HP:0000940 ! Abnormal diaphysis morphology
created_by: doelkens
creation_date: 2010-07-14T05:09:21Z

[Term]
id: HP:0100254
name: Stenosis of the medullary cavity of the long bones
xref: UMLS:C4022179
is_a: HP:0100253 ! Abnormality of the medullary cavity of the long bones
created_by: doelkens
creation_date: 2010-07-14T05:13:39Z

[Term]
id: HP:0100255
name: Metaphyseal dysplasia
alt_id: HP:0000948
alt_id: HP:0005002
alt_id: HP:0005636
alt_id: HP:0005704
alt_id: HP:0006427
def: "The presence of dysplastic regions in metaphyseal regions." [HPO:sdoelken]
xref: MSH:C536252
xref: SNOMEDCT_US:27837003
xref: UMLS:C0265294
is_a: HP:0000944 ! Abnormality of the metaphysis
is_a: HP:0002652 ! Skeletal dysplasia
created_by: doelkens
creation_date: 2010-07-14T05:15:56Z

[Term]
id: HP:0100256
name: Senile plaques
def: "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken]
comment: Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic.
synonym: "Braindruse" EXACT []
synonym: "Neuritic plaques" EXACT []
synonym: "Senile druse" EXACT []
xref: MSH:D058225
xref: SNOMEDCT_US:38551001
xref: UMLS:C0333463
is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system
created_by: doelkens
creation_date: 2010-07-15T02:43:44Z

[Term]
id: HP:0100257
name: Ectrodactyly
def: "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet." [HPO:sdoelken]
comment: Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen.
subset: hposlim_core
synonym: "Cleft hand" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Lobster claw hand" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:C574275
xref: SNOMEDCT_US:13624003
xref: SNOMEDCT_US:81208006
xref: UMLS:C0265554
is_a: HP:0002813 ! Abnormality of limb bone morphology
created_by: doelkens
creation_date: 2010-07-15T03:56:58Z

[Term]
id: HP:0100258
name: Preaxial polydactyly
def: "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson]
synonym: "Polydactyly, preaxial" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:205135003
xref: UMLS:C0345354
is_a: HP:0010442 ! Polydactyly
created_by: doelkens
creation_date: 2010-07-20T11:00:32Z

[Term]
id: HP:0100259
name: Postaxial polydactyly
alt_id: HP:0005808
def: "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson]
synonym: "Postaxial hexadactyly" EXACT []
xref: MSH:C562429
xref: UMLS:C0220697
is_a: HP:0010442 ! Polydactyly
created_by: doelkens
creation_date: 2010-07-20T11:00:32Z

[Term]
id: HP:0100260
name: Mesoaxial polydactyly
def: "The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly." [pmid:19125433]
synonym: "Central polydactyly" EXACT []
synonym: "Insertional polydactyly" RELATED []
synonym: "Intercalary polydactyly" EXACT []
xref: UMLS:C1848595
xref: UMLS:C4020689
is_a: HP:0010442 ! Polydactyly
created_by: doelkens
creation_date: 2010-07-20T11:00:32Z

[Term]
id: HP:0100261
name: Abnormal tendon morphology
def: "An abnormality of the structure or form of the tendons, also often called sinews." [HPO:sdoelken]
comment: A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force.
synonym: "Abnormal shape of tendon" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the sinew" EXACT []
xref: UMLS:C4021026
is_a: HP:0011842 ! Abnormality of skeletal morphology
created_by: doelkens
creation_date: 2010-07-20T01:20:19Z

[Term]
id: HP:0100262
name: Synostosis involving digits
synonym: "Fusion involving digits" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022178
is_a: HP:0100240 ! Synostosis of joints
created_by: doelkens
creation_date: 2010-07-20T02:58:46Z

[Term]
id: HP:0100263
name: Distal symphalangism
xref: MSH:C566099
xref: UMLS:C1861401
is_a: HP:0100262 ! Synostosis involving digits
created_by: doelkens
creation_date: 2010-07-20T03:00:19Z

[Term]
id: HP:0100264
name: Proximal symphalangism
synonym: "Cushing's symphalangism" EXACT [ORCID:0000-0001-6908-9849]
xref: MSH:C536223
xref: UMLS:C1861385
is_a: HP:0100262 ! Synostosis involving digits
created_by: doelkens
creation_date: 2010-07-20T03:00:19Z

[Term]
id: HP:0100265
name: Synostosis of metacarpals/metatarsals
synonym: "Fusion of long bones of hand/long bones of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022177
is_a: HP:0100240 ! Synostosis of joints
created_by: doelkens
creation_date: 2010-07-20T03:02:10Z

[Term]
id: HP:0100266
name: Synostosis of carpals/tarsals
alt_id: HP:0005666
alt_id: HP:0005675
alt_id: HP:0005823
def: "The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus." [HPO:sdoelken]
synonym: "Carpal and tarsal fusions" EXACT []
synonym: "Coalescence of carpal and tarsal bones" EXACT []
synonym: "Fusion of carpal and tarsal bones" EXACT []
synonym: "Wrist bone/ankle bone fusions" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021025
is_a: HP:0100240 ! Synostosis of joints
created_by: doelkens
creation_date: 2010-07-20T03:02:14Z

[Term]
id: HP:0100267
name: Lip pit
def: "A depression located on a lip." [HPO:probinson]
subset: hposlim_core
xref: UMLS:C0341059
is_a: HP:0000159 ! Abnormal lip morphology
is_a: HP:0100276 ! Skin pit
created_by: doelkens
creation_date: 2010-07-20T04:06:32Z

[Term]
id: HP:0100268
name: Upper lip pit
def: "Depression located on the vermilion of the upper lip, usually paramedian." [HPO:sdoelken]
comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the upper lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit).
xref: UMLS:C4022176
is_a: HP:0000177 ! Abnormality of upper lip
is_a: HP:0100269 ! Paramedian lip pit
created_by: doelkens
creation_date: 2010-07-20T04:06:52Z

[Term]
id: HP:0100269
name: Paramedian lip pit
def: "Depression located paramedially on the vermilion of a lip." [HPO:sdoelken]
comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the upper or lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit).
synonym: "Paramedian labial pits" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022175
is_a: HP:0100267 ! Lip pit
created_by: doelkens
creation_date: 2010-07-20T04:13:41Z

[Term]
id: HP:0100270
name: Abnormality of dorsoventral patterning of the limbs
def: "An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs." [HPO:sdoelken]
xref: UMLS:C4022174
is_a: HP:0001155 ! Abnormality of the hand
is_a: HP:0001760 ! Abnormality of the foot
created_by: doelkens
creation_date: 2010-07-22T05:02:27Z

[Term]
id: HP:0100271
name: Hyponasal speech
def: "Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion." [HPO:sdoelken]
xref: UMLS:C4022173
is_a: HP:0001608 ! Abnormality of the voice
created_by: doelkens
creation_date: 2010-07-27T09:57:48Z

[Term]
id: HP:0100272
name: Branchial sinus
def: "A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal." [HPO:sdoelken]
comment: Branchial sinuses have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear.
xref: SNOMEDCT_US:253259008
xref: UMLS:C0266624
is_a: HP:0009794 ! Branchial anomaly
created_by: doelkens
creation_date: 2010-07-27T10:10:03Z

[Term]
id: HP:0100273
name: Neoplasm of the colon
synonym: "Colon tumor" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D003110
xref: NCIT:C3262
xref: SNOMEDCT_US:126838000
xref: UMLS:C0009375
is_a: HP:0100834 ! Neoplasm of the large intestine
created_by: doelkens
creation_date: 2010-07-28T05:37:31Z

[Term]
id: HP:0100274
name: Gustatory lacrimation
def: "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal." [HPO:sdoelken]
comment: The aberrant innervation leading to this phenomenon may be seen for example as a hereditary trait in some patients with Branchio-oto-renal (BOR) syndrome in which case it may occur unilateral or bilateral, but it may also result from a secondary aberrant reinnervation following a peripheral facial palsy, in which case it is associated with uncontrollable ipsilateral tearing. In the past gustatory lacrimation was considered to be a very rare non-hereditary type of anomalous, cranial nerve-end organ innervation but rare occurences in patients with Branchio-oto-renal (BOR) syndrome have shown, that this feature may also appear as a hereditary condition.
xref: UMLS:C1862052
is_a: HP:0000632 ! Lacrimation abnormality
is_a: HP:0031910 ! Abnormal cranial nerve physiology
created_by: doelkens
creation_date: 2010-07-29T11:59:06Z

[Term]
id: HP:0100275
name: Diffuse cerebellar atrophy
alt_id: HP:0006928
def: "Diffuse unlocalised atrophy affecting the cerebellum." [HPO:sdoelken]
xref: UMLS:C1854699
is_a: HP:0001272 ! Cerebellar atrophy
created_by: doelkens
creation_date: 2010-08-02T01:22:19Z

[Term]
id: HP:0100276
name: Skin pit
def: "A small, skin-lined tract that leads from the surface to deep within the tissues." []
synonym: "Skin pit" EXACT layperson []
synonym: "Skin pits" RELATED layperson []
xref: UMLS:C4020712
xref: UMLS:C4022172
is_a: HP:0011355 ! Localized skin lesion
created_by: doelkens
creation_date: 2010-08-05T10:51:32Z

[Term]
id: HP:0100277
name: Periauricular skin pits
def: "Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken]
synonym: "Periauricular earpits" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Periauricular fistulas" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Periauricular pits" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Periauricular sinus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Pits around the ear" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022171
is_a: HP:0000383 ! Abnormality of periauricular region
is_a: HP:0100276 ! Skin pit
created_by: doelkens
creation_date: 2010-08-05T10:54:32Z

[Term]
id: HP:0100279
name: Ulcerative colitis
def: "A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon." [HPO:sdoelken]
synonym: "Colitis ulcerosa" EXACT []
xref: MSH:D003093
xref: SNOMEDCT_US:64766004
xref: UMLS:C0009324
is_a: HP:0100281 ! Chronic colitis
created_by: doelkens
creation_date: 2010-08-10T09:25:44Z

[Term]
id: HP:0100280
name: Crohn's disease
def: "A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation." [HPO:sdoelken]
synonym: "Granulomatous enteritis and colitis" EXACT []
synonym: "Morbus Crohn" EXACT []
xref: MSH:D003424
xref: SNOMEDCT_US:34000006
xref: UMLS:C0010346
is_a: HP:0004386 ! Gastrointestinal inflammation
created_by: doelkens
creation_date: 2010-08-10T09:26:05Z

[Term]
id: HP:0100281
name: Chronic colitis
def: "A chronic inflammatory disease of the large intestine (colon, cecum and rectum)." [HPO:sdoelken]
xref: SNOMEDCT_US:54597004
xref: UMLS:C0267375
is_a: HP:0002583 ! Colitis
created_by: doelkens
creation_date: 2010-08-10T09:26:33Z

[Term]
id: HP:0100282
name: Acute colitis
def: "An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum)." [HPO:sdoelken]
xref: UMLS:C2118460
is_a: HP:0002583 ! Colitis
created_by: doelkens
creation_date: 2010-08-10T09:26:33Z

[Term]
id: HP:0100283
name: EMG: continuous motor unit activity at rest
def: "Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles." [HPO:probinson]
comment: The motor unit contains an anterior horn cell, its axon, and all of the muscle fibers that it innervates via the neuromuscular junction. Note that a healthy relaxed muscle does not show significant EMG activity at rest.
xref: UMLS:C4022170
is_a: HP:0003457 ! EMG abnormality
created_by: doelkens
creation_date: 2010-08-10T12:59:19Z

[Term]
id: HP:0100284
name: EMG: myotonic discharges
def: "High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound." [HPO:probinson]
xref: UMLS:C4022169
is_a: HP:0003457 ! EMG abnormality
created_by: doelkens
creation_date: 2010-08-10T01:02:13Z

[Term]
id: HP:0100285
name: EMG: impaired neuromuscular transmission
def: "An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP)." [HPO:probinson]
xref: UMLS:C4022168
is_a: HP:0003457 ! EMG abnormality
created_by: doelkens
creation_date: 2010-08-10T01:02:59Z

[Term]
id: HP:0100287
name: EMG: slow motor conduction
def: "The presence of reduced conduction velocity of motor nerves on electromyography." [HPO:probinson]
xref: UMLS:C4022167
is_a: HP:0003457 ! EMG abnormality
created_by: doelkens
creation_date: 2010-08-10T01:11:48Z

[Term]
id: HP:0100288
name: EMG: myokymic discharges
def: "The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding." [HPO:probinson]
xref: UMLS:C4022166
is_a: HP:0002411 ! Myokymia
is_a: HP:0003457 ! EMG abnormality
created_by: doelkens
creation_date: 2010-08-10T01:12:27Z

[Term]
id: HP:0100289
name: Abnormality of pattern reversal visual evoked potentials
synonym: "Abnormality of pattern reversal VEP" EXACT []
xref: UMLS:C4022165
is_a: HP:0030455 ! Abnormality of pattern visual evoked potentials
created_by: doelkens
creation_date: 2010-08-10T01:20:56Z

[Term]
id: HP:0100290
name: Abnormality of peripheral somatosensory evoked potentials
xref: UMLS:C4022164
is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials
created_by: doelkens
creation_date: 2010-08-10T01:31:37Z

[Term]
id: HP:0100291
name: Abnormality of central somatosensory evoked potentials
xref: UMLS:C4022163
is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials
created_by: doelkens
creation_date: 2010-08-10T01:31:37Z

[Term]
id: HP:0100292
name: Amyloidosis of peripheral nerves
def: "The presence of amyloid deposition in the nerves of the peripheral nervous system." [HPO:probinson]
xref: UMLS:C4022162
is_a: HP:0011034 ! Amyloidosis
is_a: HP:0045010 ! Abnormality of peripheral nerves
created_by: doelkens
creation_date: 2010-08-10T01:46:51Z

[Term]
id: HP:0100293
name: Muscle fiber hypertrophy
synonym: "Muscle fibre hypertrophy" EXACT []
xref: SNOMEDCT_US:42091004
xref: UMLS:C0333759
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: doelkens
creation_date: 2010-08-10T01:57:00Z

[Term]
id: HP:0100295
name: Muscle fiber atrophy
alt_id: HP:0100294
synonym: "Muscle fiber degeneration" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Muscle fibre atrophy" EXACT []
xref: SNOMEDCT_US:67867005
xref: UMLS:C0333751
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: doelkens
creation_date: 2010-08-10T01:58:24Z

[Term]
id: HP:0100296
name: Perifascicular muscle fiber atrophy
xref: SNOMEDCT_US:87196003
xref: UMLS:C0333757
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: doelkens
creation_date: 2010-08-10T01:59:54Z

[Term]
id: HP:0100297
name: Increased endomysial connective tissue
xref: UMLS:C4022161
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: doelkens
creation_date: 2010-08-10T02:06:32Z

[Term]
id: HP:0100298
name: Motheaten muscle fibers
xref: UMLS:C4022160
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: doelkens
creation_date: 2010-08-10T02:19:26Z

[Term]
id: HP:0100299
name: Muscle fiber inclusion bodies
comment: This should have logical def changed to reference a generic muscle fiber but this is not yet in CL.
xref: UMLS:C4022159
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: doelkens
creation_date: 2010-08-10T02:21:34Z

[Term]
id: HP:0100300
name: Desmin bodies
xref: UMLS:C4022158
is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T02:28:49Z

[Term]
id: HP:0100301
name: Muscle fiber tubular inclusions
def: "Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities." [HPO:sdoelken, PMID:15113116]
synonym: "Muscle fiber tubular aggregates" EXACT []
xref: UMLS:C4021024
is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T02:31:27Z

[Term]
id: HP:0100302
name: Muscle fiber tubuloreticular inclusions
synonym: "Muscle fiber tubuloreticular aggregates" EXACT []
xref: UMLS:C4021023
is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T02:36:48Z

[Term]
id: HP:0100303
name: Muscle fiber cytoplasmatic inclusion bodies
alt_id: HP:0003790
def: "The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins." [HPO:probinson]
synonym: "Muscle fiber cytoplasmic bodies" EXACT [http://neuromuscular.wustl.edu/pathol/cytobod.htm]
xref: UMLS:C4022157
is_a: HP:0100299 ! Muscle fiber inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T02:39:22Z

[Term]
id: HP:0100304
name: Muscle fiber intranuclear inclusion bodies
def: "The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins." [HPO:probinson]
xref: UMLS:C4022156
is_a: HP:0100299 ! Muscle fiber inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T02:39:22Z

[Term]
id: HP:0100305
name: Ring fibers
def: "Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation." [HPO:sdoelken]
xref: SNOMEDCT_US:47913008
xref: UMLS:C0333770
is_a: HP:0004303 ! Abnormality of muscle fibers
created_by: doelkens
creation_date: 2010-08-10T02:41:11Z

[Term]
id: HP:0100306
name: Muscle fiber hyaline bodies
xref: UMLS:C4022155
is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T02:49:13Z

[Term]
id: HP:0100307
name: Cerebellar hemisphere hypoplasia
xref: UMLS:C4022154
is_a: HP:0001321 ! Cerebellar hypoplasia
created_by: doelkens
creation_date: 2010-08-10T02:51:21Z

[Term]
id: HP:0100308
name: Cerebral cortical hemiatrophy
def: "Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle." [HPO:probinson]
xref: UMLS:C4022153
is_a: HP:0002120 ! Cerebral cortical atrophy
created_by: doelkens
creation_date: 2010-08-10T02:52:37Z

[Term]
id: HP:0100309
name: Subdural hemorrhage
def: "Hemorrhage occurring between the dura mater and the arachnoid mater." [HPO:sdoelken]
comment: Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated.
synonym: "Subdural haematoma" EXACT []
xref: MSH:D006408
xref: SNOMEDCT_US:35486000
xref: SNOMEDCT_US:95453001
xref: UMLS:C0018946
is_a: HP:0002170 ! Intracranial hemorrhage
created_by: doelkens
creation_date: 2010-08-10T03:01:08Z

[Term]
id: HP:0100310
name: Epidural hemorrhage
def: "Hemorrhage occurring between the dura mater and the skull." [HPO:sdoelken]
comment: Intracranial bleeding occuring between the dura mater (the tough outer membrane of the central nervous system) and the skull. The dura mater also covers the spine, so epidural bleeds may also occur in the spinal column.
synonym: "Epidural haematoma" EXACT []
synonym: "Epidural hematoma" EXACT []
synonym: "Extradural haematoma" EXACT []
synonym: "Extradural hematoma" EXACT []
xref: MSH:D006407
xref: SNOMEDCT_US:428268007
xref: SNOMEDCT_US:82999001
xref: UMLS:C0238154
is_a: HP:0002170 ! Intracranial hemorrhage
created_by: doelkens
creation_date: 2010-08-10T03:05:35Z

[Term]
id: HP:0100311
name: Cerebral ventricular adhesions
xref: UMLS:C4022152
is_a: HP:0002118 ! Abnormality of the cerebral ventricles
created_by: doelkens
creation_date: 2010-08-10T03:10:06Z

[Term]
id: HP:0100312
name: Cerebral germinoma
def: "The presence of a germ cell tumor of the cerebrum." [HPO:probinson]
xref: NCIT:C3708
xref: UMLS:C4022151
is_a: HP:0100620 ! Germinoma
is_a: HP:0100835 ! Benign neoplasm of the central nervous system
is_a: HP:0100836 ! Malignant neoplasm of the central nervous system
created_by: doelkens
creation_date: 2010-08-10T03:17:16Z

[Term]
id: HP:0100313
name: Cerebral granulomatosis
def: "Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells." [HPO:probinson, PMID:937513]
comment: A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
xref: UMLS:C4022150
is_a: HP:0002060 ! Abnormality of the cerebrum
is_a: HP:0002955 ! Granulomatosis
created_by: doelkens
creation_date: 2010-08-10T03:19:05Z

[Term]
id: HP:0100314
name: Cerebral inclusion bodies
def: "Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain." [HPO:probinson]
comment: Inclusion bodies are usually derived from proteins.
xref: UMLS:C4022149
is_a: HP:0002060 ! Abnormality of the cerebrum
created_by: doelkens
creation_date: 2010-08-10T03:31:18Z

[Term]
id: HP:0100315
name: Lewy bodies
synonym: "Lewy body disease" RELATED []
xref: MSH:D016631
xref: MSH:D020961
xref: SNOMEDCT_US:312991009
xref: SNOMEDCT_US:43127003
xref: SNOMEDCT_US:80098002
xref: UMLS:C0085200
xref: UMLS:C0752347
is_a: HP:0100314 ! Cerebral inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T03:32:14Z

[Term]
id: HP:0100316
name: Hirano bodies
def: "Intracellular aggregates of actin and actin-associated proteins within nerve cells." [HPO:probinson]
xref: SNOMEDCT_US:57458003
xref: UMLS:C0521178
is_a: HP:0100314 ! Cerebral inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T03:32:38Z

[Term]
id: HP:0100317
name: Argyrophilic inclusion bodies
def: "Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue." [HPO:sdoelken]
synonym: "Agyrophilic inclusion bodies" EXACT []
synonym: "Pick inclusion bodies" EXACT []
xref: UMLS:C4021022
is_a: HP:0100314 ! Cerebral inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T03:35:26Z

[Term]
id: HP:0100318
name: Lafora bodies
def: "An intraneuronal inclusion body composed of acid mucopolysaccharides." [HPO:sdoelken]
xref: SNOMEDCT_US:87554006
xref: UMLS:C0333749
is_a: HP:0100314 ! Cerebral inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T03:37:06Z

[Term]
id: HP:0100319
name: Cerebral hyaline bodies
def: "Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance." [HPO:sdoelken]
synonym: "Cerebral colloid bodies" EXACT []
xref: UMLS:C4021021
is_a: HP:0100314 ! Cerebral inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T03:39:19Z

[Term]
id: HP:0100320
name: Rosenthal fibres
def: "Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders." [HPO:sdoelken]
xref: SNOMEDCT_US:84605001
xref: UMLS:C0333731
is_a: HP:0100314 ! Cerebral inclusion bodies
created_by: doelkens
creation_date: 2010-08-10T03:46:31Z

[Term]
id: HP:0100321
name: Abnormality of the dentate nucleus
def: "An abnormality of the dentate nucleus." [HPO:probinson]
xref: UMLS:C4022148
is_a: HP:0001317 ! Abnormal cerebellum morphology
created_by: doelkens
creation_date: 2010-08-10T03:56:48Z

[Term]
id: HP:0100322
name: Aplasia of the pyramidal tract
synonym: "Absent pyramidal tract" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022147
is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract
created_by: doelkens
creation_date: 2010-08-10T04:00:24Z

[Term]
id: HP:0100323
name: Juvenile aseptic necrosis
def: "Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers." [HPO:sdoelken]
comment: Causes may be rapid growth, heredity, trauma or overuse and anatomic conformation.
synonym: "Aseptic epiphyseal necrosis" RELATED []
xref: UMLS:C4020710
xref: UMLS:C4022146
is_a: HP:0010885 ! Avascular necrosis
created_by: doelkens
creation_date: 2010-08-10T04:02:42Z

[Term]
id: HP:0100324
name: Scleroderma
alt_id: HP:0001594
alt_id: HP:0007426
def: "A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin." [HPO:sdoelken]
comment: A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease.
synonym: "Progressive systemic scleroderma" EXACT []
synonym: "Pseudoscleroderma" EXACT []
xref: MSH:D012594
xref: SNOMEDCT_US:403524003
xref: SNOMEDCT_US:89155008
xref: UMLS:C0011644
xref: UMLS:C1274865
is_a: HP:0001072 ! Thickened skin
created_by: doelkens
creation_date: 2010-08-10T04:14:42Z

[Term]
id: HP:0100326
name: Immunologic hypersensitivity
def: "Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens." [https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf]
xref: UMLS:C0237653
is_a: HP:0010978 ! Abnormality of immune system physiology
created_by: doelkens
creation_date: 2010-09-16T06:00:43Z

[Term]
id: HP:0100327
name: Cow milk allergy
def: "Hypersensitivity in form of an adverse immune reaction against cow milk protein." [HPO:sdoelken]
synonym: "Cow milk allergy" EXACT layperson []
synonym: "IgE-mediated cow milk allergy" EXACT []
synonym: "Immunoglobulin E-mediated cow milk allergy" EXACT []
synonym: "Milk allergy" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:15911003
xref: UMLS:C0266815
is_a: HP:0410327 ! Dairy allergy
created_by: doelkens
creation_date: 2010-09-16T06:03:58Z

[Term]
id: HP:0100328
name: Carpometacarpal synostosis
def: "Fusion involving carpal and metacarpal bones." [HPO:probinson]
synonym: "Fused wrist bones and long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022145
is_a: HP:0009701 ! Metacarpal synostosis
is_a: HP:0009702 ! Carpal synostosis
created_by: doelkens
creation_date: 2010-10-08T03:52:00Z

[Term]
id: HP:0100329
name: Tarsometatarsal synostosis
synonym: "Fused bones of the midfoot" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022144
is_a: HP:0001440 ! Metatarsal synostosis
is_a: HP:0008368 ! Tarsal synostosis
created_by: doelkens
creation_date: 2010-10-08T03:53:06Z

[Term]
id: HP:0100333
name: Unilateral cleft lip
alt_id: HP:0100331
def: "A non-midline cleft of the upper lip on one side only." [HPO:probinson]
synonym: "One sided cleft upper lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unilateral cheiloschisis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Unilateral cleft upper lip" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:304067009
xref: UMLS:C0392006
is_a: HP:0100335 ! Non-midline cleft lip
created_by: doelkens
creation_date: 2010-10-13T04:11:32Z

[Term]
id: HP:0100334
name: Unilateral cleft palate
synonym: "One sided cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Unilateral palatoschisis" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022143
is_a: HP:0100338 ! Non-midline cleft palate
created_by: doelkens
creation_date: 2010-10-13T04:16:12Z

[Term]
id: HP:0100335
name: Non-midline cleft lip
alt_id: HP:0010283
alt_id: HP:0100332
def: "Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region." [HPO:probinson]
synonym: "Non-midline cleft of the upper lip" EXACT []
synonym: "Paramedian cleft of the upper lip" EXACT []
xref: UMLS:C4021020
is_a: HP:0000204 ! Cleft upper lip
created_by: doelkens
creation_date: 2010-10-13T04:12:24Z

[Term]
id: HP:0100336
name: Bilateral cleft lip
def: "A non-midline cleft of the upper lip on the left and right sides." [HPO:probinson]
subset: hposlim_core
synonym: "Bilateral cheiloschisis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Both sided cleft lip" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Right and left cleft lip" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:304068004
xref: UMLS:C0392005
is_a: HP:0100335 ! Non-midline cleft lip
created_by: doelkens
creation_date: 2010-10-13T04:13:10Z

[Term]
id: HP:0100337
name: Bilateral cleft palate
def: "Nonmidline cleft palate on the left and right sides." [HPO:probinson]
subset: hposlim_core
synonym: "Bilateral palatoschisis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Right and left cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C3553084
is_a: HP:0100338 ! Non-midline cleft palate
created_by: doelkens
creation_date: 2010-10-13T04:16:32Z

[Term]
id: HP:0100338
name: Non-midline cleft palate
synonym: "Paramedian cleft palate" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022142
is_a: HP:0000175 ! Cleft palate
created_by: doelkens
creation_date: 2010-10-13T04:16:40Z

[Term]
id: HP:0100339
name: Abnormality of the os naviculare pedis
xref: UMLS:C4022141
is_a: HP:0001850 ! Abnormality of the tarsal bones
created_by: doelkens
creation_date: 2010-10-13T04:46:42Z

[Term]
id: HP:0100340
name: Fibular deviation of the 4th toe
xref: UMLS:C4022140
is_a: HP:0010338 ! Deviation of the 4th toe
created_by: doelkens
creation_date: 2010-11-11T03:41:54Z

[Term]
id: HP:0100341
name: Tibial deviation of the 4th toe
xref: UMLS:C4022139
is_a: HP:0010338 ! Deviation of the 4th toe
created_by: doelkens
creation_date: 2010-11-11T03:41:54Z

[Term]
id: HP:0100342
name: Fibular deviation of the 3rd toe
xref: UMLS:C4022138
is_a: HP:0010332 ! Deviation of the 3rd toe
created_by: doelkens
creation_date: 2010-11-11T03:43:52Z

[Term]
id: HP:0100343
name: Tibial deviation of the 3rd toe
xref: UMLS:C4022137
is_a: HP:0010332 ! Deviation of the 3rd toe
created_by: doelkens
creation_date: 2010-11-11T03:43:52Z

[Term]
id: HP:0100344
name: Fibular deviation of the 2nd toe
xref: UMLS:C4022136
is_a: HP:0010326 ! Deviation of the 2nd toe
created_by: doelkens
creation_date: 2010-11-11T03:44:07Z

[Term]
id: HP:0100345
name: Tibial deviation of the 2nd toe
xref: UMLS:C4022135
is_a: HP:0010326 ! Deviation of the 2nd toe
created_by: doelkens
creation_date: 2010-11-11T03:44:07Z

[Term]
id: HP:0100346
name: Fibular deviation of the 5th toe
xref: UMLS:C4022134
is_a: HP:0010344 ! Deviation of the 5th toe
created_by: doelkens
creation_date: 2010-11-11T03:44:27Z

[Term]
id: HP:0100347
name: Tibial deviation of the 5th toe
xref: UMLS:C4022133
is_a: HP:0010344 ! Deviation of the 5th toe
created_by: doelkens
creation_date: 2010-11-11T03:44:27Z

[Term]
id: HP:0100348
name: Contracture of the proximal interphalangeal joint of the 2nd toe
def: "The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively." [HPO:probinson]
synonym: "Camptodactyly of the 2nd toe" EXACT []
synonym: "Camptodactyly of the second toe" EXACT []
xref: UMLS:C4021019
is_a: HP:0001836 ! Camptodactyly of toe
is_a: HP:0010327 ! Flexion contracture of the 2nd toe

[Term]
id: HP:0100349
name: Contracture of the proximal interphalangeal joint of the 3rd toe
def: "The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively." [UToronto:htrang]
synonym: "Camptodactyly of the 3rd toe" EXACT []
xref: UMLS:C4021018
is_a: HP:0001836 ! Camptodactyly of toe
is_a: HP:0010333 ! Flexion contracture of 3rd toe

[Term]
id: HP:0100350
name: Contracture of the proximal interphalangeal joint of the 4th toe
def: "The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively." [HPO:probinson]
synonym: "Camptodactyly of the 4th toe" EXACT []
synonym: "Camptodactyly of the fourth toe" EXACT []
synonym: "Contracture of the innermost hinge joint of the 4th toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021017
is_a: HP:0001836 ! Camptodactyly of toe
is_a: HP:0010339 ! Flexion contracture of the 4th toe

[Term]
id: HP:0100351
name: Contractures of the proximal interphalangeal joint of the 5th toe
def: "The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively." [HPO:probinson]
synonym: "Camptodactyly of the 5th toe" EXACT []
synonym: "Camptodactyly of the fifth toe" EXACT []
xref: UMLS:C4021016
is_a: HP:0001836 ! Camptodactyly of toe
is_a: HP:0010345 ! Flexion contracture of the 5th toe

[Term]
id: HP:0100352
name: Contracture of the distal interphalangeal joint of the 2nd toe
def: "The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively." [HPO:probinson]
synonym: "Contracture of the distal interphalangeal joint of the second toe" EXACT []
xref: UMLS:C4021015
is_a: HP:0010327 ! Flexion contracture of the 2nd toe

[Term]
id: HP:0100353
name: Contracture of the distal interphalangeal joint of the 3rd toe
def: "The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively." [HPO:probinson]
xref: UMLS:C4022132
is_a: HP:0010333 ! Flexion contracture of 3rd toe

[Term]
id: HP:0100354
name: Contracture of the distal interphalangeal joint of the 4th toe
def: "The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively." [HPO:probinson]
xref: UMLS:C4022131
is_a: HP:0010339 ! Flexion contracture of the 4th toe

[Term]
id: HP:0100355
name: Contractures of the distal interphalangeal joint of the 5th toe
def: "The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively." [HPO:probinson]
synonym: "Contracture of the outermost hinge joint of the 5th toe" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022130
is_a: HP:0010345 ! Flexion contracture of the 5th toe

[Term]
id: HP:0100356
name: Contracture of the metatarsophalangeal joint of the 2nd toe
def: "The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively." [HPO:probinson]
xref: UMLS:C4022129
is_a: HP:0010327 ! Flexion contracture of the 2nd toe

[Term]
id: HP:0100357
name: Contracture of the metatarsophalangeal joint of the 3rd toe
def: "The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively." [HPO:probinson]
xref: UMLS:C4022128
is_a: HP:0010333 ! Flexion contracture of 3rd toe

[Term]
id: HP:0100358
name: Contracture of the metatarsophalangeal joint of the 4th toe
def: "The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively." [HPO:probinson]
xref: UMLS:C4022127
is_a: HP:0010339 ! Flexion contracture of the 4th toe

[Term]
id: HP:0100359
name: Contracture of the metatarsophalangeal joint of the 5th toe
def: "The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively." [HPO:probinson]
xref: UMLS:C4022126
is_a: HP:0010345 ! Flexion contracture of the 5th toe

[Term]
id: HP:0100360
name: Contractures of the joints of the upper limbs
xref: UMLS:C2750635
is_a: HP:0003121 ! Limb joint contracture
created_by: doelkens
creation_date: 2010-11-11T04:18:29Z

[Term]
id: HP:0100362
name: Aplasia of the phalanges of the 3rd toe
synonym: "Absent digital bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022125
is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe
is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe
is_a: HP:0010745 ! Aplasia of the phalanges of the toes

[Term]
id: HP:0100363
name: Aplasia of the phalanges of the 4th toe
synonym: "Absent bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022124
is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe
is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe
is_a: HP:0010745 ! Aplasia of the phalanges of the toes

[Term]
id: HP:0100364
name: Aplasia of the phalanges of the 5th toe
synonym: "Absent little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022123
is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe
is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe
is_a: HP:0010745 ! Aplasia of the phalanges of the toes

[Term]
id: HP:0100366
name: Short phalanx of the 3rd toe
def: "Developmental hypoplasia of the phalanx of third toe." [HPO:sdoelken]
synonym: "Hypoplastic/small phalanges of the 3rd toe" EXACT []
synonym: "Short 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short phalanx of the third toe" EXACT []
xref: UMLS:C4021014
is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe
is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe
is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes

[Term]
id: HP:0100367
name: Short phalanx of the 4th toe
def: "Developmental hypoplasia of one or more phalanx of fourth toe." [HPO:probinson]
synonym: "Hypoplastic/small phalanges of the 4th toe" EXACT []
synonym: "Short 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short phalanx of the fourth toe" EXACT []
xref: UMLS:C4021013
is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe
is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe
is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes

[Term]
id: HP:0100368
is_anonymous: true
name: Short phalanx of the 5th toe
def: "Developmental hypoplasia of one or more phalanx of little toe." [HPO:probinson]
synonym: "Hypoplastic/small phalanges of the 5th toe" EXACT []
synonym: "Short little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short phalanx of the fifth toe" EXACT []
synonym: "Short pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021012
is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe
is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe
is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes

[Term]
id: HP:0100369
name: Aplasia/Hypoplasia of the distal phalanx of the 3rd toe
synonym: "Absent/small outermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022122
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe
is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe
is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe

[Term]
id: HP:0100370
name: Aplasia/Hypoplasia of the distal phalanx of the 4th toe
synonym: "Absent/small outermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022121
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe
is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe
is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe

[Term]
id: HP:0100371
name: Aplasia/Hypoplasia of the distal phalanx of the 5th toe
synonym: "Absent/small outermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small outermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022120
is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes
is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe
is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe
is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe

[Term]
id: HP:0100372
name: Aplasia/Hypoplasia of the middle phalanx of the 3rd toe
synonym: "Absent/small middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022119
is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes
is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe
is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe
is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe

[Term]
id: HP:0100373
name: Aplasia/Hypoplasia of the middle phalanx of the 4th toe
synonym: "Absent/small middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022118
is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes
is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe
is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe
is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe

[Term]
id: HP:0100374
name: Aplasia/Hypoplasia of the middle phalanx of the 5th toe
synonym: "Absent/small middle 5th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022117
is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes
is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe
is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe
is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe

[Term]
id: HP:0100375
name: Aplasia/hypoplasia of the proximal phalanx of the 3rd toe
def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe." [HPO:probinson]
synonym: "Absent/small innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022116
is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx
is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe
is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe
is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe

[Term]
id: HP:0100376
name: Aplasia/hypoplasia of the proximal phalanx of the 4th toe
def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe." [HPO:probinson]
synonym: "Absent/small innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022115
is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx
is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe
is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe
is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe

[Term]
id: HP:0100377
name: Aplasia/hypoplasia of the proximal phalanx of the 5th toe
def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe." [HPO:probinson]
synonym: "Absent/small innermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small innermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/small innermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped innermost 5th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022114
is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx
is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe
is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe
is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe

[Term]
id: HP:0100378
name: Absent distal phalanx of the 3rd toe
def: "Developmental aplasia of the distal phalanx of third toe." [HPO:sdoelken]
synonym: "Absent distal phalanx of the third toe" EXACT []
synonym: "Absent outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Aplasia of the distal phalanx of the 3rd toe" EXACT []
xref: UMLS:C4021011
is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes
is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe
is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe

[Term]
id: HP:0100379
name: Aplasia of the distal phalanx of the 4th toe
synonym: "Absent distal phalanx of the 4th toe" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Absent outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022113
is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes
is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe
is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe

[Term]
id: HP:0100380
name: Aplasia of the distal phalanx of the 5th toe
synonym: "Absent outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022112
is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes
is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe
is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe

[Term]
id: HP:0100381
name: Absent middle phalanx of the 3rd toe
def: "Developmental aplasia of the middle phalanx of third toe." [HPO:sdoelken]
synonym: "Absent middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle phalanx of the third toe" EXACT []
synonym: "Aplasia of the middle phalanx of the 3rd toe" EXACT []
xref: UMLS:C4021010
is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe
is_a: HP:0100372 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd toe
is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes

[Term]
id: HP:0100382
name: Aplasia of the middle phalanx of the 4th toe
synonym: "Absent middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022111
is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe
is_a: HP:0100373 ! Aplasia/Hypoplasia of the middle phalanx of the 4th toe
is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes

[Term]
id: HP:0100383
name: Aplasia of the middle phalanx of the 5th toe
synonym: "Absent middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022110
is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe
is_a: HP:0100374 ! Aplasia/Hypoplasia of the middle phalanx of the 5th toe
is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes

[Term]
id: HP:0100384
name: Absent proximal phalanx of the 3rd toe
def: "Absence of proximal phalanx of third toe, owing to a congenital defect of development." [HPO:probinson]
synonym: "Absent innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Aplasia of the proximal phalanx of the 3rd toe" EXACT []
xref: UMLS:C4021009
is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe
is_a: HP:0100375 ! Aplasia/hypoplasia of the proximal phalanx of the 3rd toe
is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes

[Term]
id: HP:0100385
name: Aplasia of the proximal phalanx of the 4th toe
synonym: "Absent innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022109
is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe
is_a: HP:0100376 ! Aplasia/hypoplasia of the proximal phalanx of the 4th toe
is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes

[Term]
id: HP:0100386
name: Aplasia of the proximal phalanx of the 5th toe
synonym: "Absent innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Absent innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022108
is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe
is_a: HP:0100377 ! Aplasia/hypoplasia of the proximal phalanx of the 5th toe
is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes

[Term]
id: HP:0100387
name: Aplasia of the middle phalanges of the toes
synonym: "Absent middle toe bones" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022107
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2010-11-11T04:55:30Z

[Term]
id: HP:0100388
name: Aplasia of the proximal phalanges of the toes
synonym: "Absent innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022106
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
created_by: doelkens
creation_date: 2010-11-11T04:55:30Z

[Term]
id: HP:0100389
name: Short distal phalanx of the 3rd toe
def: "Developmental hypoplasia of the distal phalanx of third toe." [HPO:probinson]
synonym: "Hypoplastic/small distal phalanx of the 3rd toe" EXACT []
synonym: "Short distal phalanx of the third toe" EXACT []
synonym: "Short outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021008
is_a: HP:0100366 ! Short phalanx of the 3rd toe
is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe

[Term]
id: HP:0100390
name: Short distal phalanx of the 4th toe
def: "Developmental hypoplasia of the distal phalanx of fourth toe." [HPO:sdoelken]
synonym: "Hypoplastic/small distal phalanx of the 4th toe" EXACT []
synonym: "Short distal phalanx of the fourth toe" EXACT []
synonym: "Short outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021007
is_a: HP:0100367 ! Short phalanx of the 4th toe
is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe

[Term]
id: HP:0100391
name: Short distal phalanx of the 5th toe
def: "Developmental hypoplasia of the distal phalanx of little toe." [HPO:sdoelken]
synonym: "Hypoplastic/small distal phalanx of the 5th toe" EXACT []
synonym: "Short distal phalanx of the fifth toe" EXACT []
synonym: "Short outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021006
is_a: HP:0100368 ! Short phalanx of the 5th toe
is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe

[Term]
id: HP:0100392
name: Short middle phalanx of the 3rd toe
def: "Developmental hypoplasia of the middle phalanx of third toe." [HPO:sdoelken]
synonym: "Hypoplastic/small middle phalanx of the 3rd toe" EXACT []
synonym: "Short middle phalanx of the third toe" EXACT []
xref: UMLS:C4021005
is_a: HP:0100366 ! Short phalanx of the 3rd toe
is_a: HP:0100372 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd toe

[Term]
id: HP:0100393
name: Short middle phalanx of the 4th toe
def: "Developmental hypoplasia of the middle phalanx of fourth toe." [HPO:sdoelken]
synonym: "Hypoplastic/small middle phalanx of the 4th toe" EXACT []
synonym: "Short middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle phalanx of the fourth toe" EXACT []
xref: UMLS:C4021004
is_a: HP:0100367 ! Short phalanx of the 4th toe
is_a: HP:0100373 ! Aplasia/Hypoplasia of the middle phalanx of the 4th toe

[Term]
id: HP:0100394
name: Short middle phalanx of the 5th toe
def: "Developmental hypoplasia of the middle phalanx of the 5th toe." [HPO:probinson]
synonym: "Hypoplastic/small middle phalanx of the 5th toe" EXACT layperson []
synonym: "Short middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short middle phalanx of the fifth toe" EXACT []
xref: UMLS:C4021003
is_a: HP:0100368 ! Short phalanx of the 5th toe
is_a: HP:0100374 ! Aplasia/Hypoplasia of the middle phalanx of the 5th toe

[Term]
id: HP:0100395
name: Short proximal phalanx of the 3rd toe
def: "Abnormal reduction in length of proximal phalanx of third toe." [HPO:probinson]
synonym: "Hypoplastic/small proximal phalanx of the 3rd toe" EXACT []
synonym: "Short proximal phalanx of the third toe" EXACT []
xref: UMLS:C4021002
is_a: HP:0100366 ! Short phalanx of the 3rd toe
is_a: HP:0100375 ! Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

[Term]
id: HP:0100396
name: Short proximal phalanx of the 4th toe
alt_id: HP:0005628
def: "Developmental hypoplasia of the proximal phalanx of fourth toe." [HPO:probinson]
synonym: "Hypoplastic/small proximal phalanx of the 4th toe" EXACT []
synonym: "Short fourth toe proximal phalanx" EXACT []
synonym: "Short proximal phalanx of the fourth toe" EXACT []
xref: UMLS:C4021001
is_a: HP:0100367 ! Short phalanx of the 4th toe
is_a: HP:0100376 ! Aplasia/hypoplasia of the proximal phalanx of the 4th toe

[Term]
id: HP:0100397
name: Short proximal phalanx of the 5th toe
def: "Developmental hypoplasia of the proximal phalanx of fifth toe." [HPO:probinson]
synonym: "Hypoplastic/small proximal phalanx of the 5th toe" EXACT layperson []
synonym: "Short innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Short proximal phalanx of the fifth toe" EXACT layperson []
xref: UMLS:C4021000
is_a: HP:0100368 ! Short phalanx of the 5th toe
is_a: HP:0100377 ! Aplasia/hypoplasia of the proximal phalanx of the 5th toe

[Term]
id: HP:0100398
name: Duplication of the distal phalanx of the 3rd toe
def: "Partial or complete duplication of distal phalanx of third toe." [HPO:probinson]
synonym: "Duplication of the distal phalanx of the third toe" EXACT []
synonym: "Duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the 3rd toe" EXACT []
xref: UMLS:C4020999
is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe
is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe

[Term]
id: HP:0100399
name: Duplication of the distal phalanx of the 4th toe
def: "Partial or complete duplication of the distal phalanx of fourth toe." [HPO:sdoelken]
synonym: "Duplication of the distal phalanx of the fourth toe" EXACT []
synonym: "Duplication of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the 4th toe" EXACT []
xref: UMLS:C4020998
is_a: HP:0010379 ! Duplication of phalanx of the 4th toe
is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe

[Term]
id: HP:0100400
name: Duplication of the distal phalanx of the 5th toe
def: "Partial or complete duplication of the distal phalanx of little toe." [HPO:sdoelken]
synonym: "Duplication of the distal phalanx of the fifth toe" EXACT []
synonym: "Duplication of the outermost bone of the fifth toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial/complete duplication of the distal phalanx of the 5th toe" EXACT []
xref: UMLS:C4020997
is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe
is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe

[Term]
id: HP:0100401
name: Duplication of the middle phalanx of the 3rd toe
def: "Partial or complete duplication of middle phalanx of third toe." [HPO:sdoelken]
synonym: "Duplication of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the middle phalanx of the third toe" EXACT []
synonym: "Partial/complete duplication of the middle phalanx of the 3rd toe" EXACT []
xref: UMLS:C4020996
is_a: HP:0010202 ! Duplication of middle phalanx of toe
is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe
is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe

[Term]
id: HP:0100402
name: Duplication of the middle phalanx of the 4th toe
def: "Partial or complete duplication of middle phalanx of fourth toe." [HPO:sdoelken]
synonym: "Duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the middle phalanx of the fourth toe" EXACT []
synonym: "Partial/complete duplication of the middle phalanx of the 4th toe" EXACT []
xref: UMLS:C4020995
is_a: HP:0010379 ! Duplication of phalanx of the 4th toe
is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe

[Term]
id: HP:0100403
name: Duplication of the middle phalanx of the 5th toe
def: "Partial or complete duplication of the middle phalanx of the 5th toe." [HPO:probinson]
synonym: "Duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the middle phalanx of the fifth toe" EXACT []
synonym: "Partial/complete duplication of the middle phalanx of the 5th toe" EXACT []
xref: UMLS:C4020994
is_a: HP:0010202 ! Duplication of middle phalanx of toe
is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe
is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe

[Term]
id: HP:0100404
name: Duplication of the proximal phalanx of the 3rd toe
def: "Partial or complete duplication of proximal phalanx of third toe." [HPO:sdoelken]
synonym: "Duplication of the innermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the proximal phalanx of the third toe" EXACT []
synonym: "Partial/complete duplication of the proximal phalanx of the 3rd toe" EXACT []
xref: UMLS:C4020993
is_a: HP:0010211 ! Duplication of proximal phalanx of toe
is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe
is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe

[Term]
id: HP:0100405
name: Duplication of the proximal phalanx of the 4th toe
def: "Partial or complete duplication of the proximal phalanx of fourth toe." [HPO:sdoelken]
synonym: "Duplication of the innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the proximal phalanx of the fourth toe" EXACT []
synonym: "Partial/complete duplication of the proximal phalanx of the 4th toe" EXACT []
xref: UMLS:C4020992
is_a: HP:0010211 ! Duplication of proximal phalanx of toe
is_a: HP:0010379 ! Duplication of phalanx of the 4th toe
is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe

[Term]
id: HP:0100406
name: Duplication of the proximal phalanx of the 5th toe
def: "Partial or complete duplication of the proximal phalanx of fifth toe." [HPO:probinson]
synonym: "Duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Duplication of the proximal phalanx of the fifth toe" EXACT []
synonym: "Partial/complete duplication of the proximal phalanx of the 5th toe" EXACT []
xref: UMLS:C4020991
is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe
is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe

[Term]
id: HP:0100407
name: Complete duplication of the distal phalanx of the 3rd toe
def: "Complete duplication of distal phalanx of third toe." [HPO:sdoelken]
synonym: "Complete duplication of the distal phalanx of the third toe" EXACT []
synonym: "Complete duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020990
is_a: HP:0100398 ! Duplication of the distal phalanx of the 3rd toe

[Term]
id: HP:0100408
name: Complete duplication of the distal phalanx of the 4th toe
def: "Complete duplication of the distal phalanx of fourth toe." [HPO:sdoelken]
synonym: "Complete duplication of the distal phalanx of the fourth toe" EXACT []
synonym: "Complete duplication of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020989
is_a: HP:0100399 ! Duplication of the distal phalanx of the 4th toe

[Term]
id: HP:0100409
name: Complete duplication of the distal phalanx of the 5th toe
def: "Complete duplication of the distal phalanx of little toe." [HPO:sdoelken]
synonym: "Complete duplication of the distal phalanx of the fifth toe" EXACT []
synonym: "Complete duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020988
is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe

[Term]
id: HP:0100410
name: Complete duplication of the middle phalanx of the 3rd toe
def: "Complete duplication of middle phalanx of third toe." [HPO:sdoelken]
synonym: "Complete duplication of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the middle phalanx of the third toe" EXACT []
xref: UMLS:C4020987
is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe

[Term]
id: HP:0100411
name: Complete duplication of the middle phalanx of the 4th toe
def: "Complete duplication of middle phalanx of fourth toe." [HPO:sdoelken]
synonym: "Complete duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the middle phalanx of the fourth toe" EXACT []
xref: UMLS:C4020986
is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe

[Term]
id: HP:0100412
name: Complete duplication of the middle phalanx of the 5th toe
def: "Complete duplication of the middle phalanx of the 5th toe." [HPO:probinson]
synonym: "Complete duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the middle phalanx of the fifth toe" EXACT []
xref: UMLS:C4020985
is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe

[Term]
id: HP:0100413
name: Complete duplication of the proximal phalanx of the 3rd toe
def: "Complete duplication of proximal phalanx of third toe." [HPO:sdoelken]
synonym: "Complete duplication of the innermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022105
is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe

[Term]
id: HP:0100414
name: Complete duplication of the proximal phalanx of the 4th toe
synonym: "Complete duplication of the innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4022104
is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe

[Term]
id: HP:0100415
name: Complete duplication of the proximal phalanx of the 5th toe
def: "Complete duplication of the proximal phalanx of fifth toe." [HPO:sdoelken]
synonym: "Complete duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Complete duplication of the proximal phalanx of the fifth toe" EXACT []
xref: UMLS:C4020984
is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe

[Term]
id: HP:0100416
name: Partial duplication of the distal phalanx of the 3rd toe
def: "Partial duplication of distal phalanx of third toe." [HPO:sdoelken]
synonym: "Partial duplication of the distal phalanx of the third toe" EXACT []
synonym: "Partial duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020983
is_a: HP:0100398 ! Duplication of the distal phalanx of the 3rd toe

[Term]
id: HP:0100417
name: Partial duplication of the distal phalanx of the 4th toe
def: "Partial duplication of the distal phalanx of fourth toe." [HPO:sdoelken]
synonym: "Partial duplication of the distal phalanx of the fourth toe" EXACT []
synonym: "Partial duplication of the outermost bone of the fourth toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020982
is_a: HP:0100399 ! Duplication of the distal phalanx of the 4th toe

[Term]
id: HP:0100418
name: Partial duplication of the distal phalanx of the 5th toe
def: "Partial duplication of the distal phalanx of little toe." [HPO:sdoelken]
synonym: "Partial duplication of the distal phalanx of the fifth toe" EXACT []
synonym: "Partial duplication of the outermost bone of the fifth toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020981
is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe

[Term]
id: HP:0100419
name: Partial duplication of the middle phalanx of the 3rd toe
def: "Partial duplication of middle phalanx of third toe." [HPO:probinson]
synonym: "Partial duplication of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the middle phalanx of the third toe" EXACT []
xref: UMLS:C4020980
is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe

[Term]
id: HP:0100420
name: Partial duplication of the middle phalanx of the 4th toe
def: "Partial duplication of middle phalanx of fourth toe." [HPO:sdoelken]
synonym: "Partial duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the middle phalanx of the fourth toe" EXACT []
xref: UMLS:C4020979
is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe

[Term]
id: HP:0100421
name: Partial duplication of the middle phalanx of the 5th toe
def: "Partial duplication of the middle phalanx of the 5th toe." [HPO:probinson]
synonym: "Partial duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the middle phalanx of the fifth toe" EXACT []
xref: UMLS:C4020978
is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe

[Term]
id: HP:0100422
name: Partial duplication of the proximal phalanx of the 3rd toe
def: "Partial duplication of proximal phalanx of third toe." [HPO:probinson]
synonym: "Partial duplication of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the proximal phalanx of the third toe" EXACT []
xref: UMLS:C4020977
is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe

[Term]
id: HP:0100423
name: Partial duplication of the proximal phalanx of the 4th toe
synonym: "Partial duplication of the innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022103
is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe

[Term]
id: HP:0100424
name: Partial duplication of the proximal phalanx of the 5th toe
def: "Partial duplication of the proximal phalanx of fifth toe." [HPO:sdoelken]
synonym: "Partial duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Partial duplication of the proximal phalanx of the fifth toe" EXACT []
xref: UMLS:C4020976
is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe

[Term]
id: HP:0100425
name: Broad middle phalanx of the 3rd toe
synonym: "Broad middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022102
is_a: HP:0010195 ! Broad middle phalanges of the toes
is_a: HP:0010360 ! Broad phalanges of the 3rd toe
is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe

[Term]
id: HP:0100426
name: Broad middle phalanx of the 4th toe
synonym: "Broad middle 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022101
is_a: HP:0010195 ! Broad middle phalanges of the toes
is_a: HP:0010372 ! Broad phalanges of the 4th toe
is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe

[Term]
id: HP:0100427
name: Broad middle phalanx of the 5th toe
synonym: "Broad middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022100
is_a: HP:0010195 ! Broad middle phalanges of the toes
is_a: HP:0010384 ! Broad phalanges of the 5th toe
is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe

[Term]
id: HP:0100428
name: Broad proximal phalanx of the 3rd toe
synonym: "Wide innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022099
is_a: HP:0010204 ! Broad proximal phalanx of toe
is_a: HP:0010360 ! Broad phalanges of the 3rd toe
is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe

[Term]
id: HP:0100429
name: Broad proximal phalanx of the 4th toe
synonym: "Wide innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022098
is_a: HP:0010204 ! Broad proximal phalanx of toe
is_a: HP:0010372 ! Broad phalanges of the 4th toe
is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe

[Term]
id: HP:0100430
name: Broad proximal phalanx of the 5th toe
synonym: "Broad innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Broad innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022097
is_a: HP:0010204 ! Broad proximal phalanx of toe
is_a: HP:0010384 ! Broad phalanges of the 5th toe
is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe

[Term]
id: HP:0100431
name: Broad distal phalanx of the 3rd toe
synonym: "Broad outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022096
is_a: HP:0010186 ! Broad distal phalanx of the toes
is_a: HP:0010360 ! Broad phalanges of the 3rd toe
is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe

[Term]
id: HP:0100432
name: Broad distal phalanx of the 4th toe
synonym: "Broad outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022095
is_a: HP:0010186 ! Broad distal phalanx of the toes
is_a: HP:0010372 ! Broad phalanges of the 4th toe
is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe

[Term]
id: HP:0100433
name: Broad distal phalanx of the 5th toe
synonym: "Broad outermost bone of the 5th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Wide outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022094
is_a: HP:0010186 ! Broad distal phalanx of the toes
is_a: HP:0010384 ! Broad phalanges of the 5th toe
is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe

[Term]
id: HP:0100434
name: Bullet-shaped middle phalanx of the 3rd toe
def: "An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022093
is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx

[Term]
id: HP:0100435
name: Bullet-shaped middle phalanx of the 4th toe
def: "An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022092
is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx

[Term]
id: HP:0100436
name: Bullet-shaped middle phalanx of the 5th toe
def: "An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022091
is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx

[Term]
id: HP:0100437
name: Bullet-shaped proximal phalanx of the 3rd toe
def: "An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped proximal bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022090
is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx
is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx

[Term]
id: HP:0100438
name: Bullet-shaped proximal phalanx of the 4th toe
def: "An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped proximal bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022089
is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx
is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx

[Term]
id: HP:0100439
name: Bullet-shaped proximal phalanx of the 5th toe
def: "An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022088
is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx
is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx

[Term]
id: HP:0100440
name: Bullet-shaped distal phalanx of the 3rd toe
def: "An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022087
is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx

[Term]
id: HP:0100441
name: Bullet-shaped distal phalanx of the 4th toe
def: "An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022086
is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx

[Term]
id: HP:0100442
name: Bullet-shaped distal phalanx of the 5th toe
def: "An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson]
synonym: "Bullet-shaped outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Bullet-shaped outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022085
is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx

[Term]
id: HP:0100443
name: Curved middle phalanx of the 3rd toe
def: "A deviation from the normal straight form of the middle phalanx of the third toe." [HPO:probinson]
synonym: "Curved middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022084
is_a: HP:0010197 ! Curved middle toe phalanx
is_a: HP:0010362 ! Curved 3rd toe phalanx
is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe

[Term]
id: HP:0100444
name: Curved middle phalanx of the 4th toe
def: "A deviation from the normal straight form of the middle phalanx of the fourth toe." [HPO:probinson]
synonym: "Curved middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022083
is_a: HP:0010197 ! Curved middle toe phalanx
is_a: HP:0010374 ! Curved 4th toe phalanx
is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe

[Term]
id: HP:0100445
name: Curved middle phalanx of the 5th toe
def: "A deviation from the normal straight form of the middle phalanx of the fifth toe." [HPO:probinson]
synonym: "Curved middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022082
is_a: HP:0010197 ! Curved middle toe phalanx
is_a: HP:0010386 ! Curved 5th toe phalanx
is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe

[Term]
id: HP:0100446
name: Curved proximal phalanx of the 3rd toe
def: "A deviation from the normal straight form of the proximal phalanx of the third toe." [HPO:probinson]
synonym: "Curved innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022081
is_a: HP:0010206 ! Curved proximal toe phalanx
is_a: HP:0010362 ! Curved 3rd toe phalanx
is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe

[Term]
id: HP:0100447
name: Curved proximal phalanx of the 4th toe
def: "A deviation from the normal straight form of the proximal phalanx of the fourth toe." [HPO:probinson]
synonym: "Curved innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022080
is_a: HP:0010206 ! Curved proximal toe phalanx
is_a: HP:0010374 ! Curved 4th toe phalanx
is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe

[Term]
id: HP:0100448
name: Curved proximal phalanx of the 5th toe
def: "A deviation from the normal straight form of the proximal phalanx of the fifth toe." [HPO:probinson]
synonym: "Curved innermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved innermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved innermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022079
is_a: HP:0010206 ! Curved proximal toe phalanx
is_a: HP:0010386 ! Curved 5th toe phalanx
is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe

[Term]
id: HP:0100449
name: Curved distal phalanx of the 3rd toe
def: "A deviation from the normal straight form of the distal phalanx of the third toe." [HPO:probinson]
synonym: "Curved outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022078
is_a: HP:0010188 ! Curved distal toe phalanx
is_a: HP:0010362 ! Curved 3rd toe phalanx
is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe

[Term]
id: HP:0100450
name: Curved distal phalanx of the 4th toe
def: "A deviation from the normal straight form of the distal phalanx of the fourth toe." [HPO:probinson]
synonym: "Curved outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022077
is_a: HP:0010188 ! Curved distal toe phalanx
is_a: HP:0010374 ! Curved 4th toe phalanx
is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe

[Term]
id: HP:0100451
name: Curved distal phalanx of the 5th toe
def: "A deviation from the normal straight form of the distal phalanx of the fifth toe." [HPO:probinson]
synonym: "Curved outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Curved outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022076
is_a: HP:0010188 ! Curved distal toe phalanx
is_a: HP:0010386 ! Curved 5th toe phalanx
is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe

[Term]
id: HP:0100452
name: Osteolytic defects of the middle phalanx of the 3rd toe
xref: UMLS:C4022075
is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe

[Term]
id: HP:0100453
name: Osteolytic defects of the middle phalanx of the 4th toe
xref: UMLS:C4022074
is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe

[Term]
id: HP:0100454
name: Osteolytic defects of the middle phalanx of the 5th toe
xref: UMLS:C4022073
is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe

[Term]
id: HP:0100455
name: Osteolytic defects of the proximal phalanx of the 3rd toe
xref: UMLS:C4022072
is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe

[Term]
id: HP:0100456
name: Osteolytic defects of the proximal phalanx of the 4th toe
xref: UMLS:C4022071
is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe

[Term]
id: HP:0100457
name: Osteolytic defects of the proximal phalanx of the 5th toe
xref: UMLS:C4022070
is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe

[Term]
id: HP:0100458
name: Osteolytic defects of the distal phalanx of the 3rd toe
synonym: "Osteolytic defects of the outermost bone of the 3rd toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022069
is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe

[Term]
id: HP:0100459
name: Osteolytic defects of the distal phalanx of the 4th toe
synonym: "Osteolytic defects of the outermost bone of the 4th toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022068
is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe

[Term]
id: HP:0100460
name: Osteolytic defects of the distal phalanx of the 5th toe
synonym: "Osteolytic defects of the outermost bone of the 5th toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022067
is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe

[Term]
id: HP:0100461
name: Patchy sclerosis of the middle phalanx of the 3rd toe
synonym: "Uneven increase in bone density in the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022066
is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx
is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx
is_a: HP:0100936 ! Sclerosis of the middle phalanx of the 3rd toe

[Term]
id: HP:0100462
name: Patchy sclerosis of the middle phalanx of the 4th toe
def: "Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Uneven increase in bone density in middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022065
is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx
is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx
is_a: HP:0100937 ! Sclerosis of the middle phalanx of the 4th toe

[Term]
id: HP:0100463
name: Patchy sclerosis of the middle phalanx of the 5th toe
def: "Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Uneven increase in bone density in the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022064
is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx
is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx
is_a: HP:0100938 ! Sclerosis of the middle phalanx of the 5th toe

[Term]
id: HP:0100464
name: Patchy sclerosis of the proximal phalanx of the 3rd toe
synonym: "Uneven increase in bone density in the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022063
is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx
is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx
is_a: HP:0100932 ! Sclerosis of the proximal phalanx of the 3rd toe

[Term]
id: HP:0100465
name: Patchy sclerosis of the proximal phalanx of the 4th toe
def: "Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Uneven increase in bone density in the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022062
is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx
is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx
is_a: HP:0100933 ! Sclerosis of the proximal phalanx of the 4th toe

[Term]
id: HP:0100466
name: Patchy sclerosis of the proximal phalanx of the 5th toe
def: "Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Uneven increase in bone density in the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022061
is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx
is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx
is_a: HP:0100934 ! Sclerosis of the proximal phalanx of the 5th toe

[Term]
id: HP:0100467
name: Patchy sclerosis of the distal phalanx of the 3rd toe
synonym: "Uneven increase in bone density in the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022060
is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx
is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx
is_a: HP:0100940 ! Sclerosis of the distal phalanx of the 3rd toe

[Term]
id: HP:0100468
name: Patchy sclerosis of the distal phalanx of the 4th toe
def: "Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Uneven increase in bone density in the outermost bone of the 4th toe" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022059
is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx
is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx
is_a: HP:0100941 ! Sclerosis of the distal phalanx of the 4th toe

[Term]
id: HP:0100469
name: Patchy sclerosis of the distal phalanx of the 5th toe
def: "Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson]
synonym: "Uneven increase in bone density in the outermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the outermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Uneven increase in bone density in the outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022058
is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx
is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx
is_a: HP:0100942 ! Sclerosis of the distal phalanx of the 5th toe

[Term]
id: HP:0100470
name: Symphalangism affecting the middle phalanx of the 3rd toe
synonym: "Fused middle bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022057
is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe

[Term]
id: HP:0100471
name: Symphalangism affecting the middle phalanx of the 4th toe
synonym: "Fused middle bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022056
is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe

[Term]
id: HP:0100472
name: Symphalangism affecting the middle phalanx of the 5th toe
synonym: "Fused middle bones of 5th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022055
is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe

[Term]
id: HP:0100473
name: Symphalangism affecting the proximal phalanx of the 3rd toe
synonym: "Fused innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022054
is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe

[Term]
id: HP:0100474
name: Symphalangism affecting the proximal phalanx of the 4th toe
synonym: "Fused innermost bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022053
is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe

[Term]
id: HP:0100475
name: Symphalangism affecting the proximal phalanx of the 5th toe
synonym: "Fused innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022052
is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe

[Term]
id: HP:0100476
name: Symphalangism affecting the distal phalanx of the 3rd toe
synonym: "Fused outermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022051
is_a: HP:0001859 ! Distal foot symphalangism
is_a: HP:0100470 ! Symphalangism affecting the middle phalanx of the 3rd toe

[Term]
id: HP:0100477
name: Symphalangism affecting the distal phalanx of the 4th toe
synonym: "Fused outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022050
is_a: HP:0001859 ! Distal foot symphalangism
is_a: HP:0100471 ! Symphalangism affecting the middle phalanx of the 4th toe

[Term]
id: HP:0100478
name: Symphalangism affecting the distal phalanx of the 5th toe
synonym: "Fused outermost bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused outermost bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused outermost bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022049
is_a: HP:0001859 ! Distal foot symphalangism
is_a: HP:0100472 ! Symphalangism affecting the middle phalanx of the 5th toe

[Term]
id: HP:0100480
name: Proximal/middle symphalangism of 3rd toe
def: "Bony fusion of the middle and proximal phalanges of the 3rd toe." [HPO:sdoelken]
synonym: "Fused innermost and middle bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the middle and proximal phalanges of the 3rd toe" EXACT []
xref: UMLS:C4020975
is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe
is_a: HP:0100237 ! Proximal foot symphalangism
is_a: HP:0100470 ! Symphalangism affecting the middle phalanx of the 3rd toe
is_a: HP:0100473 ! Symphalangism affecting the proximal phalanx of the 3rd toe

[Term]
id: HP:0100481
name: Proximal/middle symphalangism of 4th toe
def: "Bony fusion of the middle and proximal phalanges of the 4th toe." [HPO:sdoelken]
synonym: "Fused innermost and middle bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the middle and proximal phalanges of the 4th toe" EXACT []
xref: UMLS:C4020974
is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe
is_a: HP:0100237 ! Proximal foot symphalangism
is_a: HP:0100471 ! Symphalangism affecting the middle phalanx of the 4th toe
is_a: HP:0100474 ! Symphalangism affecting the proximal phalanx of the 4th toe

[Term]
id: HP:0100482
name: Proximal/middle symphalangism of 5th toe
def: "Bony fusion of the middle and proximal phalanges of the 5th toe." [HPO:sdoelken]
synonym: "Fused innermost and middle little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost and middle pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Fused innermost and middle pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the middle and proximal phalanges of the 5th toe" EXACT []
xref: UMLS:C4020973
is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe
is_a: HP:0100237 ! Proximal foot symphalangism
is_a: HP:0100472 ! Symphalangism affecting the middle phalanx of the 5th toe
is_a: HP:0100475 ! Symphalangism affecting the proximal phalanx of the 5th toe

[Term]
id: HP:0100483
name: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
synonym: "Fused innermost bone of 2nd toe with the 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022048
is_a: HP:0001440 ! Metatarsal synostosis
is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe
is_a: HP:0010401 ! Symphalangism affecting the proximal phalanx of the 2nd toe

[Term]
id: HP:0100484
name: Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal
synonym: "Fused innermost bones of third toe with 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022047
is_a: HP:0001440 ! Metatarsal synostosis
is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe
is_a: HP:0100473 ! Symphalangism affecting the proximal phalanx of the 3rd toe

[Term]
id: HP:0100485
name: Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal
synonym: "Fused innermost bone of the 4th toe with 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022046
is_a: HP:0001440 ! Metatarsal synostosis
is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe
is_a: HP:0100474 ! Symphalangism affecting the proximal phalanx of the 4th toe

[Term]
id: HP:0100486
name: Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal
synonym: "Fused innermost pinky toe bone with the 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022045
is_a: HP:0001440 ! Metatarsal synostosis
is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe
is_a: HP:0100475 ! Symphalangism affecting the proximal phalanx of the 5th toe

[Term]
id: HP:0100487
name: Triangular shaped distal phalanx of the 5th toe
synonym: "Triangular shaped outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Triangular shaped outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022044
is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe

[Term]
id: HP:0100488
name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal
synonym: "Fusion of the innermost big toe bone with the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022043
is_a: HP:0001440 ! Metatarsal synostosis
is_a: HP:0010073 ! Synostosis involving the 1st metatarsal
is_a: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux
is_a: HP:0010209 ! Symphalangism affecting the proximal phalanges of the toes
is_a: HP:0100237 ! Proximal foot symphalangism
created_by: doelkens
creation_date: 2010-11-18T06:24:21Z

[Term]
id: HP:0100489
name: Proximal/middle symphalangism of 2nd toe
alt_id: HP:0100479
def: "Bony fusion of the middle and proximal phalanges of the 2nd toe." [HPO:sdoelken]
synonym: "Fused middle and innermost bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Symphalangism of the middle and proximal phalanges of the 2nd toe" EXACT []
xref: UMLS:C4020972
is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe
is_a: HP:0010401 ! Symphalangism affecting the proximal phalanx of the 2nd toe
is_a: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe
is_a: HP:0100237 ! Proximal foot symphalangism
created_by: doelkens
creation_date: 2010-11-18T06:49:16Z

[Term]
id: HP:0100490
name: Camptodactyly of finger
alt_id: HP:0005651
alt_id: HP:0005662
alt_id: HP:0005713
alt_id: HP:0005801
alt_id: HP:0005821
alt_id: HP:0006195
alt_id: HP:0006218
alt_id: HP:0006240
alt_id: HP:0009698
def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension." [HPO:sdoelken, pmid:19125433]
comment: Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified.
synonym: "Camptodactyly of hands" EXACT []
synonym: "Camptodactyly of proximal interphalangeal joint" EXACT []
synonym: "Contractures of the proximal interphalangeal joints of the fingers" EXACT []
synonym: "Flexion contractures of proximal interphalangeal joints" EXACT []
synonym: "Permanent flexion of the finger" EXACT layperson [orcid.org/0000-0002-6548-5200]
synonym: "Proximal interphalangeal finger joint contractures" EXACT []
xref: SNOMEDCT_US:202281000
xref: UMLS:C0409348
is_a: HP:0001220 ! Interphalangeal joint contracture of finger
is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand
is_a: HP:0012385 ! Camptodactyly
created_by: doelkens
creation_date: 2010-12-14T10:46:57Z

[Term]
id: HP:0100491
name: Abnormality of lower limb joint
alt_id: HP:0100239
synonym: "Abnormality of lower limb joint" EXACT layperson []
synonym: "Abnormality of the joints of the lower limbs" EXACT layperson []
xref: UMLS:C4020971
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0002814 ! Abnormality of the lower limb
created_by: doelkens
creation_date: 2010-12-14T10:58:11Z

[Term]
id: HP:0100492
name: Joint contractures involving the joints of the feet
def: "Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue." [HPO:sdoelken]
xref: UMLS:C4022042
is_a: HP:0001371 ! Flexion contracture
is_a: HP:0100491 ! Abnormality of lower limb joint
created_by: doelkens
creation_date: 2010-12-14T11:03:38Z

[Term]
id: HP:0100493
name: Hypoammonemia
def: "A decreased concentration of ammonia in the blood." [HPO:gcarletti]
xref: UMLS:C4022041
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
created_by: doelkens
creation_date: 2010-12-17T03:54:51Z

[Term]
id: HP:0100494
name: Abnormal mast cell morphology
def: "Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation." [HPO:sdoelken]
comment: Mast cells (or mastocytes) can be found in several types of tissues and contain many granules rich in histamine and heparin. Although best known for their role in allergy and anaphylaxis, mast cells play an important protective role as well, being intimately involved in wound healing and defense against pathogens. Mast cells possess a non-lobed nucleus and can work with basophils in the immune defense against worms. Their cell membrane is covered with Fc recepros that may be attached to class E antibodies.
synonym: "Abnormality of mast cells" EXACT []
synonym: "Abnormality of mastocytes" EXACT []
xref: SNOMEDCT_US:397017008
xref: UMLS:C1301149
is_a: HP:0001911 ! Abnormal granulocyte morphology
created_by: doelkens
creation_date: 2010-12-17T04:02:08Z

[Term]
id: HP:0100495
name: Mastocytosis
def: "The presence of an increased number of mast cells and CD34+ mast cell precursors in the body." [HPO:sdoelken]
xref: MSH:D008415
xref: SNOMEDCT_US:125541005
xref: SNOMEDCT_US:397007003
xref: UMLS:C0024899
is_a: HP:0100494 ! Abnormal mast cell morphology
created_by: doelkens
creation_date: 2010-12-17T04:06:36Z

[Term]
id: HP:0100496
name: Abnormality of the vitamin B3 metabolism
comment: Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients.
synonym: "Abnormality of the vitamin B3 metabolism" EXACT layperson []
xref: UMLS:C4022040
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
created_by: doelkens
creation_date: 2010-12-17T04:13:00Z

[Term]
id: HP:0100497
name: Vitamin B3 deficiency
synonym: "Vitamin B3 deficiency" EXACT layperson []
xref: MSH:D010383
xref: SNOMEDCT_US:418186002
xref: SNOMEDCT_US:418279001
xref: UMLS:C0030783
is_a: HP:0100496 ! Abnormality of the vitamin B3 metabolism
created_by: doelkens
creation_date: 2010-12-17T04:14:51Z

[Term]
id: HP:0100498
name: Deviation of toes
xref: UMLS:C4022039
is_a: HP:0001780 ! Abnormality of toe
created_by: doelkens
creation_date: 2010-12-17T04:25:31Z

[Term]
id: HP:0100499
name: Tibial deviation of toes
synonym: "Medial deviation of toes" EXACT []
xref: UMLS:C3806533
is_a: HP:0100498 ! Deviation of toes
created_by: doelkens
creation_date: 2010-12-17T04:25:59Z

[Term]
id: HP:0100500
name: Fibular deviation of toes
synonym: "Lateral deviation of toes" EXACT []
xref: UMLS:C4020970
is_a: HP:0100498 ! Deviation of toes
created_by: doelkens
creation_date: 2010-12-17T04:26:14Z

[Term]
id: HP:0100501
name: Recurrent bronchiolitis
def: "An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis." [HPO:probinson]
xref: UMLS:C4015136
is_a: HP:0002837 ! Recurrent bronchitis
created_by: doelkens
creation_date: 2010-12-17T05:58:08Z

[Term]
id: HP:0100502
name: Vitamin B12 deficiency
synonym: "Vitamin B12 deficiency" EXACT layperson []
xref: MSH:D014806
xref: SNOMEDCT_US:190634004
xref: UMLS:C0042847
is_a: HP:0040126 ! Abnormal vitamin B12 level
created_by: doelkens
creation_date: 2010-12-17T06:00:43Z

[Term]
id: HP:0100503
name: Vitamin B1 deficiency
synonym: "Reduced blood thiamine level" EXACT []
synonym: "Vitamin B1 deficiency" EXACT layperson []
xref: MSH:D013832
xref: SNOMEDCT_US:399357009
xref: UMLS:C0039841
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
created_by: doelkens
creation_date: 2010-12-17T06:13:04Z

[Term]
id: HP:0100504
name: Vitamin B2 deficiency
synonym: "Riboflavin deficiency" EXACT []
synonym: "Vitamin B2 deficiency" EXACT layperson []
xref: MSH:D012257
xref: SNOMEDCT_US:20307000
xref: UMLS:C0035528
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
created_by: doelkens
creation_date: 2010-12-17T06:13:04Z

[Term]
id: HP:0100505
name: Vitamin B5 deficiency
synonym: "Vitamin B5 deficiency" EXACT layperson []
xref: UMLS:C4022038
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
created_by: doelkens
creation_date: 2010-12-17T06:13:04Z

[Term]
id: HP:0100506
name: Vitamin B8 deficiency
synonym: "Vitamin B8 deficiency" EXACT layperson []
xref: UMLS:C4022037
is_a: HP:0004340 ! Abnormality of vitamin B metabolism
created_by: doelkens
creation_date: 2010-12-17T06:13:04Z

[Term]
id: HP:0100507
name: Reduced blood folate concentration
def: "A reduced circulating concentration of folic acid, which is also known as vitamin B9." [HPO:probinson]
synonym: "Folate deficiency" EXACT layperson []
synonym: "Vitamin B9 deficiency" EXACT []
xref: MSH:D005494
xref: SNOMEDCT_US:190633005
xref: UMLS:C0016412
is_a: HP:0040087 ! Abnormal blood folate concentration
created_by: doelkens
creation_date: 2010-12-17T06:13:04Z

[Term]
id: HP:0100508
name: Abnormality of vitamin metabolism
def: "An anomaly in the metabolism of a vitamin." [HPO:probinson]
comment: Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes.
synonym: "Abnormality of vitamin metabolism" EXACT layperson []
xref: UMLS:C4022036
is_a: HP:0032245 ! Abnormal metabolism
created_by: doelkens
creation_date: 2010-12-17T06:17:22Z

[Term]
id: HP:0100509
name: Abnormality of vitamin C metabolism
synonym: "Abnormality of vitamin C metabolism" EXACT layperson []
xref: UMLS:C4021863
is_a: HP:0100508 ! Abnormality of vitamin metabolism
created_by: doelkens
creation_date: 2010-12-17T06:18:32Z

[Term]
id: HP:0100510
name: Vitamin C deficiency
synonym: "Vitamin C deficiency" EXACT layperson []
xref: MSH:D001206
xref: SNOMEDCT_US:76169001
xref: UMLS:C0003969
is_a: HP:0100509 ! Abnormality of vitamin C metabolism
created_by: doelkens
creation_date: 2010-12-17T06:18:50Z

[Term]
id: HP:0100511
name: Abnormality of vitamin D metabolism
synonym: "Abnormality of vitamin D metabolism" EXACT layperson []
xref: UMLS:C4022035
is_a: HP:0100508 ! Abnormality of vitamin metabolism
created_by: doelkens
creation_date: 2010-12-17T06:19:15Z

[Term]
id: HP:0100512
name: Vitamin D deficiency
synonym: "Deficient in vitamin D" EXACT layperson []
synonym: "Vitamin D deficiency" EXACT layperson []
xref: MSH:D014808
xref: SNOMEDCT_US:34713006
xref: UMLS:C0042870
is_a: HP:0100511 ! Abnormality of vitamin D metabolism
created_by: doelkens
creation_date: 2010-12-17T06:19:35Z

[Term]
id: HP:0100513
name: Vitamin E deficiency
synonym: "Alpha-tocopherol deficiency" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-9969-8610]
synonym: "Vitamin E deficiency" EXACT layperson []
xref: MSH:D014811
xref: SNOMEDCT_US:54137008
xref: UMLS:C0042875
is_a: HP:0100514 ! Abnormality of vitamin E metabolism
created_by: doelkens
creation_date: 2010-12-17T06:20:12Z

[Term]
id: HP:0100514
name: Abnormality of vitamin E metabolism
synonym: "Abnormality of vitamin E metabolism" EXACT layperson []
xref: UMLS:C4022034
is_a: HP:0100508 ! Abnormality of vitamin metabolism
created_by: doelkens
creation_date: 2010-12-17T06:20:30Z

[Term]
id: HP:0100515
name: Pollakisuria
def: "Increased frequency of urination." [HPO:probinson]
synonym: "Constant urination" BROAD layperson []
synonym: "Frequent urination" EXACT layperson []
xref: SNOMEDCT_US:162116003
xref: SNOMEDCT_US:300471006
xref: UMLS:C0042023
is_a: HP:0000009 ! Functional abnormality of the bladder
created_by: doelkens
creation_date: 2010-12-20T10:34:28Z

[Term]
id: HP:0100516
name: Neoplasm of the ureter
def: "The presence of a neoplasm of the ureter." [HPO:probinson]
synonym: "Neoplasia of the ureters" RELATED []
synonym: "ureter, cancer of" RELATED []
xref: MSH:D014516
xref: NCIT:C3262
xref: SNOMEDCT_US:126882009
xref: SNOMEDCT_US:363458004
xref: UMLS:C0041955
xref: UMLS:C0153619
is_a: HP:0000069 ! Abnormality of the ureter
is_a: HP:0010786 ! Urinary tract neoplasm
created_by: doelkens
creation_date: 2010-12-20T10:35:11Z

[Term]
id: HP:0100517
name: Neoplasm of the urethra
def: "The presence of a neoplasm of the urethra." [HPO:probinson]
synonym: "Neoplasia of the urethra" RELATED []
xref: MSH:D014523
xref: NCIT:C2974
xref: SNOMEDCT_US:126883004
xref: UMLS:C0041971
is_a: HP:0000795 ! Abnormality of the urethra
is_a: HP:0010786 ! Urinary tract neoplasm
created_by: doelkens
creation_date: 2010-12-20T10:36:17Z

[Term]
id: HP:0100518
name: Dysuria
def: "Painful or difficult urination." [HPO:probinson]
synonym: "Dull burning sensation with urination" RELATED layperson []
synonym: "Painful or difficult urination" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D053159
xref: SNOMEDCT_US:49650001
xref: UMLS:C0013428
is_a: HP:0000009 ! Functional abnormality of the bladder
created_by: doelkens
creation_date: 2010-12-20T10:40:36Z

[Term]
id: HP:0100519
name: Anuria
def: "Absence of urine, clinically classified as below 50ml/day." [HPO:sdoelken]
synonym: "Absent urine output" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D001002
xref: SNOMEDCT_US:2472002
xref: UMLS:C0003460
is_a: HP:0011037 ! Decreased urine output
created_by: doelkens
creation_date: 2010-12-20T10:41:00Z

[Term]
id: HP:0100520
name: Oliguria
def: "Low output of urine, clinically classified as an output below 300-500ml/day." [HPO:sdoelken]
comment: The decreased output of urine may be a sign of dehydration, renal failure, hypovolemic shock, multiple organ dysfunction syndrome, or urinary obstruction/urinary retention.
xref: MSH:D009846
xref: SNOMEDCT_US:718403007
xref: SNOMEDCT_US:83128009
xref: UMLS:C0028961
is_a: HP:0011037 ! Decreased urine output
created_by: doelkens
creation_date: 2010-12-20T10:42:40Z

[Term]
id: HP:0100521
name: Neoplasm of the thymus
def: "A tumor (abnormal growth of tissue) of the thymus." [HPO:probinson]
xref: MSH:D013953
xref: NCIT:C3262
xref: SNOMEDCT_US:127231009
xref: UMLS:C3714644
is_a: HP:0000777 ! Abnormality of the thymus
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2010-12-20T11:02:03Z

[Term]
id: HP:0100522
name: Thymoma
def: "A tumor originating from the epithelial cells of the thymus." [HPO:sdoelken]
comment: Malignant lymphomas that involve the thymus, such as lymphoblastic lymphoma and Hodgkin lymphoma (erroneously termed "granulomatous thymoma" in the past), should not be regarded as thymomas. Thymoma is an uncommon tumor, best known for its association with the neuromuscular disorder myasthenia gravis. Thymoma is found in 15% of patients with myasthenia gravis.
xref: MSH:D013945
xref: NCIT:C3411
xref: SNOMEDCT_US:128856005
xref: SNOMEDCT_US:444231005
xref: UMLS:C0040100
is_a: HP:0100521 ! Neoplasm of the thymus
created_by: doelkens
creation_date: 2010-12-20T11:02:22Z

[Term]
id: HP:0100523
name: Liver abscess
alt_id: HP:0001400
def: "The presence of an abscess of the liver." [HPO:probinson]
synonym: "Hepatic abscess" EXACT []
synonym: "Liver abscess" EXACT layperson []
xref: MSH:D008100
xref: SNOMEDCT_US:27916005
xref: UMLS:C0023885
is_a: HP:0025615 ! Abscess
is_a: HP:0410042 ! Abnormal liver morphology
created_by: doelkens
creation_date: 2010-12-20T11:13:14Z

[Term]
id: HP:0100524
name: Limb duplication
def: "Congenital duplication of all or part of a limb." []
subset: hposlim_core
synonym: "Dimelia" EXACT []
synonym: "Limb duplication" EXACT layperson []
xref: SNOMEDCT_US:34488005
xref: UMLS:C0265551
is_a: HP:0002813 ! Abnormality of limb bone morphology
created_by: doelkens
creation_date: 2010-12-20T11:32:41Z

[Term]
id: HP:0100525
name: Urachus fistula
def: "Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus." [Eurenomics:ewuehl]
xref: SNOMEDCT_US:398320008
xref: SNOMEDCT_US:50986000
xref: UMLS:C0345344
is_a: HP:0010478 ! Abnormality of the urachus
created_by: doelkens
creation_date: 2010-12-20T11:40:58Z

[Term]
id: HP:0100526
name: Neoplasm of the lung
def: "Tumor of the lung." [HPO:probinson]
synonym: "Lung cancer" BROAD layperson []
synonym: "Lung tumor" EXACT layperson []
xref: MSH:D008175
xref: NCIT:C3262
xref: SNOMEDCT_US:126713003
xref: UMLS:C0024121
is_a: HP:0002088 ! Abnormal lung morphology
is_a: HP:0100606 ! Neoplasm of the respiratory system
created_by: doelkens
creation_date: 2010-12-20T11:47:12Z

[Term]
id: HP:0100527
name: Neoplasia of the pleura
xref: NCIT:C3262
xref: UMLS:C4022033
is_a: HP:0002103 ! Abnormality of the pleura
is_a: HP:0100606 ! Neoplasm of the respiratory system
created_by: doelkens
creation_date: 2010-12-20T11:47:33Z

[Term]
id: HP:0100528
name: Pleuropulmonary blastoma
def: "A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant." [HPO:sdoelken]
xref: MSH:C537516
xref: NCIT:C3732
xref: SNOMEDCT_US:128763002
xref: SNOMEDCT_US:707670009
xref: UMLS:C1266144
is_a: HP:0100527 ! Neoplasia of the pleura
is_a: HP:0100552 ! Neoplasm of the tracheobronchial system
created_by: doelkens
creation_date: 2010-12-20T11:48:57Z

[Term]
id: HP:0100529
name: Abnormal blood phosphate concentration
def: "An abnormality of phosphate homeostasis or concentration in the body." [HPO:probinson]
synonym: "Abnormality of phosphate homeostasis" EXACT []
xref: UMLS:C4022032
is_a: HP:0003111 ! Abnormal blood ion concentration
created_by: doelkens
creation_date: 2010-12-20T11:58:32Z

[Term]
id: HP:0100530
name: Abnormal calcium-phosphate regulating hormone level
def: "Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium." []
synonym: "Abnormal Ca-PHOS regulating hormone level" EXACT HP:0045077 []
synonym: "Abnormal Ca2+ PO4 regulating hormone level" EXACT HP:0045077 []
xref: UMLS:C4022031
is_a: HP:0003117 ! Abnormal circulating hormone level
created_by: doelkens
creation_date: 2010-12-20T12:00:26Z

[Term]
id: HP:0100531
name: Wind-swept deformity of the knees
def: "The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other." [HPO:sdoelken]
synonym: "Wind-swept deformity of the knees" EXACT layperson []
xref: UMLS:C4022030
is_a: HP:0002857 ! Genu valgum
is_a: HP:0002970 ! Genu varum
created_by: doelkens
creation_date: 2010-12-20T12:43:09Z

[Term]
id: HP:0100532
name: Scleritis
def: "Inflammation of the sclera." [HPO:probinson]
comment: Scleritis may be accompanied by blurred vision, eye pain, redness of the (normally white) sclera, photophobia, and tearing.
subset: hposlim_core
synonym: "Inflammation of the outer white part of the eye" BROAD layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D015423
xref: SNOMEDCT_US:78370002
xref: UMLS:C0036416
is_a: HP:0000591 ! Abnormal sclera morphology
is_a: HP:0100533 ! Inflammatory abnormality of the eye
created_by: doelkens
creation_date: 2010-12-20T03:50:04Z

[Term]
id: HP:0100533
name: Inflammatory abnormality of the eye
alt_id: HP:0007891
def: "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken]
synonym: "Inflammatory abnormality of the eye" EXACT layperson []
synonym: "Ocular inflammation" EXACT []
xref: UMLS:C4020969
is_a: HP:0012373 ! Abnormal eye physiology
is_a: HP:0012649 ! Increased inflammatory response
created_by: doelkens
creation_date: 2010-12-20T03:53:42Z

[Term]
id: HP:0100534
name: Episcleritis
def: "Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye." [HPO:probinson]
comment: In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera.
subset: hposlim_core
synonym: "Inflammation of the thin layer on top of the white part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D015423
xref: SNOMEDCT_US:815008
xref: UMLS:C0014583
is_a: HP:0000591 ! Abnormal sclera morphology
is_a: HP:0100533 ! Inflammatory abnormality of the eye
created_by: doelkens
creation_date: 2010-12-20T05:48:22Z

[Term]
id: HP:0100535
name: Tibiofibular diastasis
xref: UMLS:C4022029
is_a: HP:0002991 ! Abnormality of fibula morphology
is_a: HP:0002992 ! Abnormality of tibia morphology
created_by: doelkens
creation_date: 2010-12-20T05:53:38Z

[Term]
id: HP:0100536
name: Abnormality of the fascia
def: "An abnormality of fascia." [HPO:probinson]
xref: UMLS:C4022028
is_a: HP:0003549 ! Abnormality of connective tissue
created_by: doelkens
creation_date: 2010-12-20T05:58:56Z

[Term]
id: HP:0100537
name: Fasciitis
def: "Inflammation of fascia, the tissue under the skin and over the muscle." [HPO:probinson]
synonym: "Inflammation of the fascia" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D005208
xref: SNOMEDCT_US:36948007
xref: UMLS:C0015645
is_a: HP:0012649 ! Increased inflammatory response
is_a: HP:0100536 ! Abnormality of the fascia
created_by: doelkens
creation_date: 2010-12-20T05:59:18Z

[Term]
id: HP:0100538
name: Abnormality of the supraorbital ridges
def: "An anomaly of the supraorbital portion of the frontal bones." [HPO:probinson]
synonym: "Abnormality of the brow of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the supraorbital margins" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the supraorbital ridges" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the supraorbital margins" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the supraorbital ridges" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022027
is_a: HP:0000606 ! Abnormality of the periorbital region
created_by: doelkens
creation_date: 2010-12-20T06:05:56Z

[Term]
id: HP:0100539
name: Periorbital edema
def: "Edema affecting the region situated around the orbit of the eye." [HPO:probinson]
synonym: "Periorbital cellulitis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Periorbital swelling" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Puffiness around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Puffy eyes" EXACT layperson []
synonym: "Swelling around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:109245003
xref: SNOMEDCT_US:267041004
xref: SNOMEDCT_US:49563000
xref: UMLS:C0149754
xref: UMLS:C0151205
xref: UMLS:C0424810
is_a: HP:0000282 ! Facial edema
is_a: HP:0000606 ! Abnormality of the periorbital region
created_by: doelkens
creation_date: 2010-12-20T06:09:04Z

[Term]
id: HP:0100540
name: Palpebral edema
alt_id: HP:0000626
def: "Edema in the region of the eyelids." [HPO:probinson]
synonym: "Edema of the eyelids" EXACT []
synonym: "Eyelid edema" EXACT []
synonym: "Fullness of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Puffy eyelids" EXACT layperson []
synonym: "Puffy lids" EXACT layperson []
synonym: "Swelling of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:89091004
xref: UMLS:C0162285
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0100539 ! Periorbital edema
created_by: doelkens
creation_date: 2010-12-20T06:09:32Z

[Term]
id: HP:0100541
name: Femoral hernia
def: "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken]
comment: Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. Femoral hernia appears as a bulge in the upper thigh.
subset: hposlim_core
synonym: "Crural hernia" EXACT []
xref: MEDDRA:10016434 "Femoral hernia"
xref: MSH:D006550
xref: SNOMEDCT_US:50063009
xref: UMLS:C0019288
is_a: HP:0004299 ! Hernia of the abdominal wall
created_by: doelkens
creation_date: 2010-12-20T06:16:40Z

[Term]
id: HP:0100542
name: Abnormal localization of kidney
def: "An abnormal site of the kidney." [HPO:probinson]
synonym: "Abnormal localisation of kidneys" EXACT layperson []
xref: UMLS:C4020968
is_a: HP:0012210 ! Abnormal renal morphology
created_by: doelkens
creation_date: 2010-12-20T06:43:50Z

[Term]
id: HP:0100543
name: Cognitive impairment
alt_id: HP:0002128
alt_id: HP:0002129
alt_id: HP:0002302
alt_id: HP:0002337
alt_id: HP:0002441
alt_id: HP:0006972
alt_id: HP:0006998
alt_id: HP:0007211
def: "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
synonym: "Abnormality of cognition" EXACT layperson []
synonym: "Cognitive abnormality" EXACT layperson []
synonym: "Cognitive defects" EXACT layperson []
synonym: "Cognitive deficits" EXACT layperson []
synonym: "Cognitive impairment" EXACT layperson []
synonym: "Intellectual impairment" EXACT layperson []
synonym: "Mental impairment" EXACT layperson []
xref: MSH:D060825
xref: SNOMEDCT_US:386806002
xref: UMLS:C0338656
xref: UMLS:C0683322
is_a: HP:0011446 ! Abnormality of higher mental function
created_by: doelkens
creation_date: 2010-12-20T06:50:32Z

[Term]
id: HP:0100544
name: Neoplasm of the heart
def: "A tumor (abnormal growth of tissue) of the heart." [HPO:probinson]
synonym: "Cardiac neoplasia" RELATED []
synonym: "Cardiac neoplasm" EXACT []
synonym: "Heart tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006338
xref: NCIT:C3262
xref: SNOMEDCT_US:387842002
xref: UMLS:C0018809
is_a: HP:0001627 ! Abnormal heart morphology
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2010-12-20T07:00:31Z

[Term]
id: HP:0100545
name: Arterial stenosis
def: "Narrowing or constriction of the inner surface (lumen) of an artery." [HPO:probinson]
synonym: "Narrowing of an artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:68109007
xref: UMLS:C0038449
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: doelkens
creation_date: 2010-12-21T01:30:07Z

[Term]
id: HP:0100546
name: Carotid artery stenosis
def: "Narrowing of the carotid arteries." [HPO:probinson]
comment: Carotid artery stenosis is usually caused by caused by atherosclerosis.
synonym: "Carotid stenosis" EXACT []
synonym: "Narrowing of carotid artery" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D016893
xref: SNOMEDCT_US:64586002
xref: UMLS:C0007282
is_a: HP:0005344 ! Abnormal carotid artery morphology
is_a: HP:0100545 ! Arterial stenosis
created_by: doelkens
creation_date: 2010-12-21T01:31:46Z

[Term]
id: HP:0100547
name: Abnormality of forebrain morphology
def: "An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle." [HPO:probinson]
synonym: "Abnormal shape of forebrain" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the forebrain" EXACT []
xref: UMLS:C4020967
is_a: HP:0012443 ! Abnormality of brain morphology
created_by: doelkens
creation_date: 2010-12-21T02:12:53Z

[Term]
id: HP:0100548
name: Exstrophy
def: "Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall." [HPO:probinson]
xref: SNOMEDCT_US:110407002
xref: UMLS:C0015338
is_a: HP:0004298 ! Abnormality of the abdominal wall
created_by: doelkens
creation_date: 2010-12-21T02:20:01Z

[Term]
id: HP:0100550
name: Tendon rupture
def: "Breakage (tear) of a tendon." [HPO:probinson]
comment: Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon.
synonym: "Rupture of tendons" EXACT layperson []
synonym: "Ruptured tendon" EXACT layperson []
synonym: "Tendon rupture" EXACT layperson []
xref: SNOMEDCT_US:415749005
xref: UMLS:C0151937
is_a: HP:0100261 ! Abnormal tendon morphology
created_by: doelkens
creation_date: 2010-12-21T02:58:13Z

[Term]
id: HP:0100551
name: Neoplasm of the trachea
alt_id: HP:0012291
def: "A neoplasm of the trachea." []
synonym: "Tracheal neoplasm" EXACT []
xref: MSH:D014134
xref: NCIT:C3262
xref: SNOMEDCT_US:126703006
xref: UMLS:C0040582
is_a: HP:0002778 ! Abnormal trachea morphology
is_a: HP:0100552 ! Neoplasm of the tracheobronchial system
created_by: doelkens
creation_date: 2010-12-21T03:44:37Z

[Term]
id: HP:0100552
name: Neoplasm of the tracheobronchial system
xref: NCIT:C3262
xref: UMLS:C4022026
is_a: HP:0005607 ! Abnormal tracheobronchial morphology
is_a: HP:0100526 ! Neoplasm of the lung
created_by: doelkens
creation_date: 2010-12-21T03:46:30Z

[Term]
id: HP:0100553
name: Hemihypertrophy of lower limb
def: "Overgrowth of only one leg." [HPO:probinson]
synonym: "Overgrowth of one leg" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:205369009
xref: UMLS:C0431928
is_a: HP:0001528 ! Hemihypertrophy
is_a: HP:0010496 ! Hypertrophy of the lower limb
is_a: HP:0100559 ! Lower limb asymmetry
created_by: doelkens
creation_date: 2010-12-21T03:58:40Z

[Term]
id: HP:0100554
name: Hemihypertrophy of upper limb
def: "Overgrowth of only one arm." [HPO:probinson]
synonym: "Overgrowth of one arm" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:253920006
xref: UMLS:C0431810
is_a: HP:0001528 ! Hemihypertrophy
is_a: HP:0010484 ! Hypertrophy of the upper limb
is_a: HP:0100560 ! Upper limb asymmetry
created_by: doelkens
creation_date: 2010-12-21T03:58:55Z

[Term]
id: HP:0100555
name: Asymmetric growth
def: "A growth pattern that displays an abnormal difference between the left and the right side." [HPO:probinson]
synonym: "Uneven or disproportionate growth of one body part compared to another" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: UMLS:C4022025
is_a: HP:0001507 ! Growth abnormality
created_by: doelkens
creation_date: 2010-12-21T04:00:12Z

[Term]
id: HP:0100556
name: Hemiatrophy
alt_id: HP:0005091
alt_id: HP:0200051
def: "Undergrowth of the limbs that affects only one side." [DDD:hfirth]
synonym: "Asymmetric limb shortening" EXACT layperson []
synonym: "Hemiatrophy of the body" EXACT []
xref: SNOMEDCT_US:34087007
xref: UMLS:C0333662
is_a: HP:0009826 ! Limb undergrowth
is_a: HP:0100555 ! Asymmetric growth
created_by: doelkens
creation_date: 2010-12-21T04:01:10Z

[Term]
id: HP:0100557
name: Hemiatrophy of lower limb
def: "Unilateral atrophy (reduction in size) of a leg." [HPO:probinson]
synonym: "Asymmetric lower limb shortening" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:709411004
xref: UMLS:C0431934
is_a: HP:0100556 ! Hemiatrophy
is_a: HP:0100559 ! Lower limb asymmetry
created_by: doelkens
creation_date: 2010-12-21T04:01:28Z

[Term]
id: HP:0100558
name: Hemiatrophy of upper limb
alt_id: HP:0200052
def: "Unilateral atrophy (reduction in size) of an arm." [HPO:probinson]
synonym: "Asymmetric upper limb shortening" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Hemihypotrophy of upper limb" EXACT []
xref: SNOMEDCT_US:253921005
xref: UMLS:C0431814
is_a: HP:0100556 ! Hemiatrophy
is_a: HP:0100560 ! Upper limb asymmetry
created_by: doelkens
creation_date: 2010-12-21T04:01:48Z

[Term]
id: HP:0100559
name: Lower limb asymmetry
def: "A difference in length or diameter between the left and right leg." [HPO:probinson]
synonym: "Left and right leg differ in length or width" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Leg length discrepancy" RELATED layperson []
xref: MSH:D007870
xref: SNOMEDCT_US:45939007
xref: UMLS:C0023221
is_a: HP:0002814 ! Abnormality of the lower limb
is_a: HP:0100555 ! Asymmetric growth
created_by: doelkens
creation_date: 2010-12-21T04:04:27Z

[Term]
id: HP:0100560
name: Upper limb asymmetry
def: "Difference in length or size between the right and left arm." [HPO:probinson]
subset: hposlim_core
synonym: "Unequal size of arms" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: UMLS:C4022024
is_a: HP:0002817 ! Abnormality of the upper limb
is_a: HP:0100555 ! Asymmetric growth
created_by: doelkens
creation_date: 2010-12-21T04:04:56Z

[Term]
id: HP:0100561
name: Spinal cord lesion
xref: UMLS:C0241224
is_a: HP:0002143 ! Abnormality of the spinal cord
created_by: doelkens
creation_date: 2010-12-21T04:34:03Z

[Term]
id: HP:0100562
name: Diplomyelia
def: "Duplication of the spinal cord." [HPO:sdoelken]
synonym: "Duplication of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:360527003
xref: UMLS:C1260890
is_a: HP:0100561 ! Spinal cord lesion
created_by: doelkens
creation_date: 2010-12-21T04:35:22Z

[Term]
id: HP:0100563
name: Diastomatomyelia
def: "Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum." [HPO:sdoelken]
xref: UMLS:C4022023
is_a: HP:0100561 ! Spinal cord lesion
created_by: doelkens
creation_date: 2010-12-21T04:35:22Z

[Term]
id: HP:0100564
name: Triplomyelia
def: "Triplication of the spinal cord - extremely rare." [HPO:sdoelken]
synonym: "Triplication of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022022
is_a: HP:0100561 ! Spinal cord lesion
created_by: doelkens
creation_date: 2010-12-21T04:35:22Z

[Term]
id: HP:0100565
name: Hydromyelia
def: "Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo." [HPO:sdoelken]
xref: SNOMEDCT_US:11197005
xref: SNOMEDCT_US:74740003
xref: UMLS:C0152444
is_a: HP:0100561 ! Spinal cord lesion
created_by: doelkens
creation_date: 2010-12-21T04:35:22Z

[Term]
id: HP:0100566
name: Amyelia
def: "Congenital absence of the spinal cord." [HPO:sdoelken]
synonym: "Absent spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:78784005
xref: UMLS:C0266510
is_a: HP:0100561 ! Spinal cord lesion
created_by: doelkens
creation_date: 2010-12-21T04:41:35Z

[Term]
id: HP:0100568
name: Neoplasm of the endocrine system
def: "A tumor (abnormal growth of tissue) of the endocrine system." [HPO:probinson]
synonym: "Endocrine neoplasia" EXACT []
xref: MSH:D004701
xref: NCIT:C3262
xref: SNOMEDCT_US:387922007
xref: SNOMEDCT_US:387927001
xref: UMLS:C0014132
is_a: HP:0000818 ! Abnormality of the endocrine system
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2010-12-21T04:55:15Z

[Term]
id: HP:0100569
name: Abnormally ossified vertebrae
def: "An abnormality of the formation and mineralization of one or more vertebrae." [HPO:probinson]
synonym: "Abnormal bone maturation of vertebra" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormal vertebral ossification" EXACT []
synonym: "Abnormality of ossification/mineralisation of vertebrae" EXACT []
xref: UMLS:C4020966
is_a: HP:0003336 ! Abnormal enchondral ossification
is_a: HP:0003468 ! Abnormal vertebral morphology
created_by: doelkens
creation_date: 2010-12-21T04:50:43Z

[Term]
id: HP:0100570
name: Carcinoid tumor
def: "A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin." [HPO:sdoelkens]
synonym: "Carcinoid" EXACT []
synonym: "Carcinoid tumors" RELATED [HPO:skoehler]
xref: MSH:D002276
xref: SNOMEDCT_US:189607006
xref: SNOMEDCT_US:443492008
xref: UMLS:C0007095
is_a: HP:0100634 ! Neuroendocrine neoplasm
created_by: doelkens
creation_date: 2010-12-21T04:57:15Z

[Term]
id: HP:0100571
name: Cardiac diverticulum
def: "A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular." [HPO:sdoelken]
synonym: "Ventricular diverticulum" EXACT []
xref: UMLS:C4020965
is_a: HP:0001713 ! Abnormal cardiac ventricle morphology
created_by: doelkens
creation_date: 2010-12-21T05:11:26Z

[Term]
id: HP:0100572
name: Fibrous cardiac diverticulum
def: "A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly." [HPO:sdoelken]
synonym: "Congenital ventricular aneurysm" EXACT []
xref: UMLS:C4020964
is_a: HP:0006698 ! Dilatation of the ventricular cavity
is_a: HP:0100571 ! Cardiac diverticulum
created_by: doelkens
creation_date: 2010-12-21T05:14:00Z

[Term]
id: HP:0100573
name: Muscular cardiac diverticulum
xref: UMLS:C4022021
is_a: HP:0100571 ! Cardiac diverticulum
created_by: doelkens
creation_date: 2010-12-21T05:14:00Z

[Term]
id: HP:0100574
name: Biliary tract neoplasm
alt_id: HP:0030152
def: "A tumor (abnormal growth of tissue) of the biliary system." [HPO:probinson]
synonym: "Neoplasia of the biliary tract" RELATED []
xref: MSH:D001661
xref: NCIT:C3262
xref: SNOMEDCT_US:126853008
xref: UMLS:C0005426
xref: UMLS:C4020709
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
is_a: HP:0012440 ! Abnormal biliary tract morphology
created_by: doelkens
creation_date: 2010-12-21T05:18:27Z

[Term]
id: HP:0100575
name: Neoplasm of the gallbladder
def: "The presence of a neoplasm of the gallbladder." [HPO:probinson]
synonym: "Neoplasia of the gallbladder" RELATED []
xref: MSH:D005706
xref: NCIT:C3262
xref: SNOMEDCT_US:126854002
xref: UMLS:C0016978
xref: UMLS:C4020708
is_a: HP:0012437 ! Abnormal gallbladder morphology
is_a: HP:0100574 ! Biliary tract neoplasm
created_by: doelkens
creation_date: 2010-12-21T05:18:44Z

[Term]
id: HP:0100576
name: Amaurosis fugax
def: "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
subset: hposlim_core
xref: MSH:D020757
xref: SNOMEDCT_US:88032003
xref: UMLS:C0149793
is_a: HP:0000504 ! Abnormality of vision
created_by: doelkens
creation_date: 2010-12-27T12:42:59Z

[Term]
id: HP:0100577
name: Urinary bladder inflammation
def: "Inflammation of the urinary bladder." [HPO:probinson]
synonym: "Cystitis of the urinary bladder" EXACT []
synonym: "Urinary bladder inflammation" EXACT layperson []
xref: MSH:D003556
xref: SNOMEDCT_US:38822007
xref: UMLS:C0010692
is_a: HP:0012649 ! Increased inflammatory response
is_a: HP:0025487 ! Abnormality of bladder morphology
created_by: doelkens
creation_date: 2010-12-27T12:49:16Z

[Term]
id: HP:0100578
name: Lipoatrophy
def: "Localized loss of fat tissue." [HPO:sdoelken]
comment: This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs.
subset: hposlim_core
synonym: "Atrophy of fat" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Loss of fat tissue in localized area" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10024604 "Lipoatrophy"
xref: SNOMEDCT_US:248315005
xref: UMLS:C1280433
is_a: HP:0009125 ! Lipodystrophy
created_by: doelkens
creation_date: 2010-12-27T12:55:33Z

[Term]
id: HP:0100579
name: Mucosal telangiectasiae
def: "Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken]
xref: UMLS:C4022020
is_a: HP:0001009 ! Telangiectasia
created_by: doelkens
creation_date: 2010-12-27T01:04:18Z

[Term]
id: HP:0100580
name: Barrett esophagus
def: "An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system." [HPO:sdoelken]
comment: The medical significance of Barrett esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer.
synonym: "Barret syndrome" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Barrett's esophagus" EXACT []
synonym: "Endobrachyesophagus" EXACT []
xref: MSH:D001471
xref: SNOMEDCT_US:302914006
xref: UMLS:C0004763
is_a: HP:0100751 ! Esophageal neoplasm
created_by: doelkens
creation_date: 2010-12-27T01:33:00Z

[Term]
id: HP:0100581
name: Dilatation of renal calices
def: "An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine." [HPO:sdoelken]
synonym: "Caliceal dilatation" EXACT []
synonym: "Caliectasis" EXACT []
synonym: "Megacalicosis" RELATED []
xref: UMLS:C4022019
is_a: HP:0011130 ! Abnormal renal calyx morphology
created_by: doelkens
creation_date: 2010-12-27T02:44:04Z

[Term]
id: HP:0100582
name: Nasal polyposis
alt_id: HP:0000462
def: "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken]
synonym: "Nasal polyps" EXACT []
synonym: "Polys of nose" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D009298
xref: SNOMEDCT_US:52756005
xref: UMLS:C0027430
is_a: HP:0000433 ! Abnormality of the nasal mucosa
created_by: doelkens
creation_date: 2010-12-27T02:47:15Z

[Term]
id: HP:0100583
name: Corneal perforation
alt_id: HP:0100793
def: "A rupture of the cornea through which a portion of the iris protrudes." [DDD:ncarter]
synonym: "Iridocele" EXACT []
xref: MSH:D057112
xref: SNOMEDCT_US:74895004
xref: UMLS:C0339293
xref: UMLS:C0948060
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: doelkens
creation_date: 2010-12-27T02:52:19Z

[Term]
id: HP:0100584
name: Endocarditis
def: "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken]
xref: MSH:D004696
xref: SNOMEDCT_US:56819008
xref: UMLS:C0014118
is_a: HP:0004306 ! Abnormal endocardium morphology
is_a: HP:0012649 ! Increased inflammatory response
created_by: doelkens
creation_date: 2010-12-27T02:57:48Z

[Term]
id: HP:0100585
name: Telangiectasia of the skin
def: "Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions." [HPO:probinson]
synonym: "Teleangiectasia of the skin" EXACT []
xref: UMLS:C4022018
is_a: HP:0001009 ! Telangiectasia
created_by: doelkens
creation_date: 2010-12-27T03:06:35Z

[Term]
id: HP:0100586
name: Aseptic leukocyturia
def: "Leukocyturia without bacterial growth upon urine culture." [HPO:probinson]
xref: UMLS:C4022017
is_a: HP:0012085 ! Pyuria
created_by: doelkens
creation_date: 2010-12-27T03:09:12Z

[Term]
id: HP:0100587
name: Abnormality of the preputium
xref: UMLS:C4022016
is_a: HP:0000036 ! Abnormality of the penis
created_by: doelkens
creation_date: 2010-12-27T03:13:07Z

[Term]
id: HP:0100588
name: Paraphimosis
def: "The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis." [HPO:sdoelken]
xref: MSH:D010263
xref: SNOMEDCT_US:13758004
xref: UMLS:C0030483
is_a: HP:0100587 ! Abnormality of the preputium
created_by: doelkens
creation_date: 2010-12-27T03:13:30Z

[Term]
id: HP:0100589
name: Urogenital fistula
def: "The presence of a fistula affecting the genitourinary system." [HPO:probinson]
xref: UMLS:C0853877
is_a: HP:0000119 ! Abnormality of the genitourinary system
created_by: doelkens
creation_date: 2010-12-27T04:09:23Z

[Term]
id: HP:0100590
name: Rectal fistula
def: "The presence of a fistula affecting the rectum." [HPO:probinson]
xref: MSH:D012003
xref: SNOMEDCT_US:80736008
xref: UMLS:C0034884
is_a: HP:0002034 ! Abnormality of the rectum
is_a: HP:0100589 ! Urogenital fistula
is_a: HP:0100819 ! Intestinal fistula
created_by: doelkens
creation_date: 2010-12-27T04:11:26Z

[Term]
id: HP:0100592
name: Peritoneal abscess
def: "The presence of an abscess of the peritoneum." [HPO:probinson]
xref: SNOMEDCT_US:73962000
xref: UMLS:C0267756
is_a: HP:0002585 ! Abnormality of the peritoneum
is_a: HP:0025615 ! Abscess
created_by: doelkens
creation_date: 2010-12-27T04:30:53Z

[Term]
id: HP:0100593
name: Calcification of cartilage
xref: UMLS:C4022015
is_a: HP:0002763 ! Abnormal cartilage morphology
is_a: HP:0010766 ! Ectopic calcification
created_by: doelkens
creation_date: 2010-12-27T04:35:28Z

[Term]
id: HP:0100594
name: Esophageal web
def: "Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare)." [HPO:sdoelken]
subset: hposlim_core
xref: SNOMEDCT_US:19216006
xref: SNOMEDCT_US:22395006
xref: UMLS:C0267080
is_a: HP:0002031 ! Abnormal esophagus morphology
created_by: doelkens
creation_date: 2010-12-27T04:51:07Z

[Term]
id: HP:0100595
name: Camptocormia
def: "An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders." [HPO:sdoelken]
subset: hposlim_core
xref: MSH:C537968
xref: SNOMEDCT_US:13534001
xref: UMLS:C0264162
is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column
created_by: doelkens
creation_date: 2010-12-27T04:55:11Z

[Term]
id: HP:0100596
name: Absent nares
alt_id: HP:0100597
def: "The nostrils (the paired channels of the nose) are not present." [HPO:probinson]
synonym: "Abouphalia" EXACT []
synonym: "Aplasia of the nares" EXACT []
synonym: "Aplasia/Hypoplasia of the nares" RELATED []
synonym: "Missing nostrils" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4020707
xref: UMLS:C4020963
is_a: HP:0005288 ! Abnormality of the nares
created_by: doelkens
creation_date: 2010-12-27T05:07:16Z

[Term]
id: HP:0100598
name: Pulmonary edema
def: "Fluid accumulation in the lungs." [HPO:sdoelken]
synonym: "Excess fluid in lungs" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Lung edema" EXACT []
synonym: "Pulmonary oedema" EXACT []
synonym: "Wet lung" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D011654
xref: SNOMEDCT_US:19242006
xref: UMLS:C0034063
is_a: HP:0000969 ! Edema
is_a: HP:0002088 ! Abnormal lung morphology
created_by: doelkens
creation_date: 2010-12-27T05:10:09Z

[Term]
id: HP:0100599
name: Bifid penis
def: "Two penile structures, separated from the tip to the base of the shaft." [HPO:sdoelken, pmid:23650202]
comment: In individuals with complete duplication often one will find Hypospadias, Epispadias, Bladder exstrophy, or Bifid scrotum, which should be coded separately, as well as urinary tract duplications, renal anomalies, and gastrointestinal duplications. The terms indicate the presence of (part of) two penises, but do not indicate whether they are caused by splitting or double formation.
synonym: "Diphallia" EXACT []
synonym: "Penile duplication" EXACT layperson []
xref: SNOMEDCT_US:253851000
xref: UMLS:C0345322
is_a: HP:0000036 ! Abnormality of the penis
created_by: doelkens
creation_date: 2010-12-27T05:17:57Z

[Term]
id: HP:0100600
name: Penoscrotal transposition
def: "A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis." [HPO:sdoelken]
synonym: "Prepenile scrotum" EXACT []
xref: MSH:C536650
xref: SNOMEDCT_US:312005008
xref: UMLS:C1868854
is_a: HP:0000036 ! Abnormality of the penis
is_a: HP:0000045 ! Abnormality of the scrotum
created_by: doelkens
creation_date: 2010-12-27T05:19:57Z

[Term]
id: HP:0100601
name: Eclampsia
def: "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders." [HPO:sdoelken]
xref: MSH:D004461
xref: SNOMEDCT_US:15938005
xref: UMLS:C0013537
is_a: HP:0100603 ! Toxemia of pregnancy
created_by: doelkens
creation_date: 2010-12-27T05:26:33Z

[Term]
id: HP:0100602
name: Preeclampsia
def: "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken]
synonym: "Pre-eclampsia" EXACT []
xref: MSH:D011225
xref: SNOMEDCT_US:15394000
xref: SNOMEDCT_US:398254007
xref: UMLS:C0032914
is_a: HP:0100603 ! Toxemia of pregnancy
created_by: doelkens
creation_date: 2010-12-27T05:26:57Z

[Term]
id: HP:0100603
name: Toxemia of pregnancy
def: "Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia." [HPO:sdoelken]
synonym: "Hypertensive disorder of pregnancy" EXACT []
xref: MSH:D011225
xref: SNOMEDCT_US:15394000
xref: SNOMEDCT_US:398254007
xref: UMLS:C0032914
is_a: HP:0002686 ! Prenatal maternal abnormality
created_by: doelkens
creation_date: 2010-12-27T05:27:41Z

[Term]
id: HP:0100604
name: Neoplasm of the lip
def: "A tumor (abnormal growth of tissue) of the lip." [HPO:probinson]
synonym: "Lip tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Neoplasia of the lip" RELATED []
synonym: "Tumor of the lip" RELATED layperson []
xref: MSH:D008048
xref: NCIT:C3262
xref: SNOMEDCT_US:126770008
xref: UMLS:C0023761
xref: UMLS:C4020706
is_a: HP:0000159 ! Abnormal lip morphology
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2010-12-27T05:46:46Z

[Term]
id: HP:0100605
name: Neoplasm of the larynx
xref: MSH:D007822
xref: NCIT:C3262
xref: SNOMEDCT_US:126692004
xref: UMLS:C0023055
is_a: HP:0001600 ! Abnormality of the larynx
is_a: HP:0100606 ! Neoplasm of the respiratory system
created_by: doelkens
creation_date: 2010-12-27T06:07:16Z

[Term]
id: HP:0100606
name: Neoplasm of the respiratory system
def: "A tumor (abnormal growth of tissue) of the respiratory system." [HPO:probinson]
synonym: "Respiratory system tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012142
xref: NCIT:C3262
xref: SNOMEDCT_US:126667002
xref: SNOMEDCT_US:448708002
xref: UMLS:C0035244
is_a: HP:0002086 ! Abnormality of the respiratory system
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2010-12-27T06:08:41Z

[Term]
id: HP:0100607
name: Dysmenorrhea
def: "Pain during menstruation that interferes with daily activities." [PMID:15686299]
synonym: "Painful menstruation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D004412
xref: SNOMEDCT_US:266599000
xref: SNOMEDCT_US:289900009
xref: SNOMEDCT_US:431416001
xref: UMLS:C0013390
is_a: HP:0000858 ! Menstrual irregularities
created_by: doelkens
creation_date: 2010-12-27T06:13:30Z

[Term]
id: HP:0100608
name: Metrorrhagia
def: "Bleeding at irregular intervals." [pmid:22594864]
synonym: "Abnormal uterus bleeding" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Intermenstrual bleeding" EXACT [ORCID:0000-0001-5208-3432, PMID:28499529]
synonym: "Menstrual spotting" EXACT [ORCID:0000-0001-5208-3432, PMID:28499529]
xref: MSH:D008796
xref: SNOMEDCT_US:19155002
xref: SNOMEDCT_US:237130006
xref: SNOMEDCT_US:64996003
xref: UMLS:C0025874
is_a: HP:0000140 ! Abnormality of the menstrual cycle
created_by: doelkens
creation_date: 2010-12-27T06:14:01Z

[Term]
id: HP:0100609
name: obsolete Hypermenorrhea
is_obsolete: true
replaced_by: HP:0000132

[Term]
id: HP:0100610
name: Maternal hyperphenylalaninemia
def: "A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy." [HPO:probinson]
synonym: "High blood phenylalanine level in mother" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022014
is_a: HP:0002686 ! Prenatal maternal abnormality
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration
created_by: doelkens
creation_date: 2010-12-27T06:17:13Z

[Term]
id: HP:0100611
name: Multiple glomerular cysts
def: "The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule." [Eurenomics:fschaefer, pmid:20091054, PMID:20367310]
comment: Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney refers to a kidney with greater than 5% cystic glomeruli.
synonym: "Glomerulocystic kidney disease" RELATED []
xref: UMLS:C4020705
xref: UMLS:C4022013
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
created_by: doelkens
creation_date: 2010-12-28T10:23:07Z

[Term]
id: HP:0100612
name: Odontogenic neoplasm
def: "Neoplasm involving odontogenic cells, an odontogenic tumor." [HPO:sdoelken]
comment: Examples for odontogenic neoplasia are Adenomatoid odontogenic tumors, Ameloblastomas, Calcifying epithelial odontogenic tumors, Calcifying odontogenic cysts, Dentigerous cysts, Odontogenic keratocysts, Dontogenic myxomas, Odontomas.
subset: hposlim_core
synonym: "Odontogenic tumor" EXACT []
xref: MSH:D009808
xref: NCIT:C3286
xref: SNOMEDCT_US:127578009
xref: SNOMEDCT_US:3833004
xref: UMLS:C0028880
is_a: HP:0000164 ! Abnormality of the dentition
is_a: HP:0100649 ! Neoplasm of the oral cavity
created_by: doelkens
creation_date: 2010-12-28T11:03:36Z

[Term]
id: HP:0100613
name: Death in early adulthood
def: "Death between the age of 16 and 40 years." [HPO:probinson]
synonym: "Death in early adulthood" EXACT layperson []
xref: UMLS:C4022012
is_a: HP:0011420 ! Age of death
created_by: doelkens
creation_date: 2010-12-28T11:12:21Z

[Term]
id: HP:0100614
name: Myositis
def: "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken]
comment: Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis.
synonym: "Muscle inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009220
xref: SNOMEDCT_US:128496001
xref: SNOMEDCT_US:26889001
xref: UMLS:C0027121
is_a: HP:0011805 ! Abnormal muscle morphology
is_a: HP:0012649 ! Increased inflammatory response
created_by: doelkens
creation_date: 2010-12-28T11:14:59Z

[Term]
id: HP:0100615
name: Ovarian neoplasm
def: "A tumor (abnormal growth of tissue) of the ovary." [HPO:probinson]
synonym: "Neoplasm of the ovaries" EXACT []
synonym: "Neoplasm of the ovary" EXACT []
synonym: "Ovarian cancer" BROAD layperson []
synonym: "Ovarian neoplasia" RELATED []
synonym: "Ovarian tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010051
xref: NCIT:C3262
xref: SNOMEDCT_US:123843001
xref: UMLS:C0919267
is_a: HP:0000137 ! Abnormality of the ovary
is_a: HP:0010785 ! Gonadal neoplasm
created_by: doelkens
creation_date: 2010-12-28T11:37:01Z

[Term]
id: HP:0100616
name: Testicular teratoma
def: "The presence of a teratoma of the testis." [HPO:sdoelken]
comment: An encapsulated tumor of the testis with tissue or organ components resembling normal derivatives of all three germ layers.
xref: MSH:C562472
xref: NCIT:C3403
xref: UMLS:C0238451
is_a: HP:0009792 ! Teratoma
is_a: HP:0010788 ! Testicular neoplasm
created_by: doelkens
creation_date: 2010-12-28T11:42:18Z

[Term]
id: HP:0100617
name: Testicular seminoma
def: "The presence of a seminoma, an undifferentiated germ cell tumor of the testis." [HPO:sdoelken]
xref: MSH:D018239
xref: NCIT:C9309
xref: SNOMEDCT_US:255107005
xref: SNOMEDCT_US:36741007
xref: SNOMEDCT_US:443675005
xref: UMLS:C0036631
is_a: HP:0010788 ! Testicular neoplasm
is_a: HP:0100620 ! Germinoma
created_by: doelkens
creation_date: 2010-12-28T11:42:18Z

[Term]
id: HP:0100618
name: Leydig cell neoplasia
def: "The presence of a neoplasm of the testis with origin in a Leydig cell." [HPO:probinson]
xref: NCIT:C3188
xref: UMLS:C4022011
is_a: HP:0010788 ! Testicular neoplasm
is_a: HP:0010789 ! Abnormality of the Leydig cells
created_by: doelkens
creation_date: 2010-12-28T11:42:18Z

[Term]
id: HP:0100619
name: Sertoli cell neoplasm
def: "The presence of a neoplasm of the testis with origin in a Sertoli cell." [HPO:probinson]
synonym: "Sertoli cell neoplasia" RELATED []
xref: NCIT:C39976
xref: UMLS:C4020704
is_a: HP:0010788 ! Testicular neoplasm
created_by: doelkens
creation_date: 2010-12-28T11:42:18Z

[Term]
id: HP:0100620
name: Germinoma
def: "A type of undifferentiated germ cell tumor that may be benign or malignant." [HPO:sdoelken]
xref: MSH:D018237
xref: SNOMEDCT_US:28307001
xref: UMLS:C0206660
is_a: HP:0100728 ! Germ cell neoplasia
created_by: doelkens
creation_date: 2010-12-28T11:45:44Z

[Term]
id: HP:0100621
name: Dysgerminoma
def: "The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary." [HPO:sdoelken]
xref: MSH:D004407
xref: NCIT:C2996
xref: SNOMEDCT_US:60718004
xref: UMLS:C0013377
is_a: HP:0100615 ! Ovarian neoplasm
is_a: HP:0100620 ! Germinoma
created_by: doelkens
creation_date: 2010-12-28T11:47:47Z

[Term]
id: HP:0100622
name: Maternal seizures
xref: UMLS:C4022010
is_a: HP:0002686 ! Prenatal maternal abnormality
created_by: doelkens
creation_date: 2010-12-28T12:03:21Z

[Term]
id: HP:0100623
name: Abnormality of corpus cavernosum
xref: UMLS:C4022009
is_a: HP:0000036 ! Abnormality of the penis
created_by: doelkens
creation_date: 2010-12-28T12:47:15Z

[Term]
id: HP:0100624
name: Corpus cavernosum sclerosis
xref: UMLS:C4022008
is_a: HP:0100623 ! Abnormality of corpus cavernosum
created_by: doelkens
creation_date: 2010-12-28T12:47:33Z

[Term]
id: HP:0100625
name: Enlarged thorax
synonym: "Wide rib cage" EXACT layperson []
synonym: "Wide thorax" EXACT []
xref: UMLS:C4020962
is_a: HP:0001547 ! Abnormality of the rib cage
created_by: doelkens
creation_date: 2010-12-28T04:14:55Z

[Term]
id: HP:0100626
name: Chronic hepatic failure
synonym: "Chronic liver failure" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D058625
xref: SNOMEDCT_US:235886005
xref: UMLS:C2936476
is_a: HP:0001399 ! Hepatic failure
created_by: doelkens
creation_date: 2010-12-28T04:59:16Z

[Term]
id: HP:0100627
name: Displacement of the urethral meatus
def: "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken]
comment: Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect).
synonym: "Displacement of the external urethral orifice" EXACT []
synonym: "Displacement of the male external urethral orifice" EXACT []
xref: UMLS:C4020961
is_a: HP:0000795 ! Abnormality of the urethra
is_a: HP:0032076 ! Abnormal male urethral meatus morphology
created_by: doelkens
creation_date: 2010-12-28T05:02:59Z

[Term]
id: HP:0100628
name: Esophageal diverticulum
def: "The presence of a diverticulum of the esophagus." [HPO:probinson]
comment: A diverticulum is a blind ended outpouching through the wall of a tubular organ or bounded cavity.
synonym: "Esophageal pouch" EXACT []
xref: MSH:D004936
xref: SNOMEDCT_US:204667006
xref: SNOMEDCT_US:414133009
xref: UMLS:C0014854
is_a: HP:0002031 ! Abnormal esophagus morphology
created_by: doelkens
creation_date: 2010-12-29T02:22:08Z

[Term]
id: HP:0100629
name: Midline facial cleft
def: "A congenital malformation with a cleft (gap or opening) in the midline of the face." [HPO:probinson]
comment: Midline facial clefts correspond to Tessier number 0,14, and 30.
synonym: "Midline facial cleft" EXACT layperson []
synonym: "Tessier facial cleft number 0" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tessier facial cleft number 14" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4022007
is_a: HP:0002006 ! Facial cleft
created_by: doelkens
creation_date: 2010-12-29T02:23:01Z

[Term]
id: HP:0100630
name: Neoplasia of the nasopharynx
synonym: "Nasopharyngeal neoplasm" EXACT []
synonym: "Neoplasm of the nasopharynx" EXACT []
synonym: "Tumor of the nasopharynx" NARROW [ORCID:0000-0001-5889-4463]
xref: MSH:D009303
xref: NCIT:C3262
xref: SNOMEDCT_US:126680004
xref: UMLS:C0027439
is_a: HP:0001739 ! Abnormality of the nasopharynx
is_a: HP:0100606 ! Neoplasm of the respiratory system
created_by: doelkens
creation_date: 2010-12-29T02:23:48Z

[Term]
id: HP:0100631
name: Neoplasm of the adrenal gland
def: "A tumor (abnormal growth of tissue) of the adrenal gland." [DDD:rscott]
synonym: "Adrenal neoplasia" EXACT []
xref: MSH:D000310
xref: NCIT:C3262
xref: SNOMEDCT_US:127021009
xref: UMLS:C0001624
is_a: HP:0011732 ! Abnormality of adrenal morphology
is_a: HP:0100568 ! Neoplasm of the endocrine system
created_by: doelkens
creation_date: 2010-12-29T02:27:47Z

[Term]
id: HP:0100632
name: Pulmonary sequestration
def: "The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration)." [HPO:sdoelken]
synonym: "Cystic lung lesion" RELATED []
xref: MSH:D001998
xref: SNOMEDCT_US:18620009
xref: UMLS:C0006288
xref: UMLS:C4020703
is_a: HP:0002101 ! Abnormal lung lobation
created_by: doelkens
creation_date: 2010-12-29T05:05:08Z

[Term]
id: HP:0100633
name: Esophagitis
def: "Inflammation of the esophagus." [HPO:probinson]
subset: hposlim_core
synonym: "Inflammation of the esophagus" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Oesophagitis" EXACT []
xref: MEDDRA:10030216 "Oesophagitis"
xref: MSH:D004941
xref: SNOMEDCT_US:16761005
xref: UMLS:C0014868
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0004386 ! Gastrointestinal inflammation
created_by: doelkens
creation_date: 2010-12-29T05:09:23Z

[Term]
id: HP:0100634
name: Neuroendocrine neoplasm
def: "A tumor that originates from a neuroendocrine cell." [NCIT:C3809, PMID:28448665]
comment: Neuroendocrine tumors are often diagnosed incidentally or when patients present with symptoms related to hormone production and/or tumor burden.
synonym: "Neuroendocrine neoplasia" EXACT []
xref: MSH:D018358
xref: SNOMEDCT_US:128928004
xref: SNOMEDCT_US:255046005
xref: UMLS:C0206754
is_a: HP:0100007 ! Neoplasm of the peripheral nervous system
is_a: HP:0100568 ! Neoplasm of the endocrine system
created_by: doelkens
creation_date: 2010-12-29T05:12:37Z

[Term]
id: HP:0100635
name: Carotid paraganglioma
def: "A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery." [HPO:probinson]
xref: UMLS:C4022005
is_a: HP:0002864 ! Paraganglioma of head and neck
is_a: HP:0005344 ! Abnormal carotid artery morphology
created_by: doelkens
creation_date: 2010-12-29T05:20:58Z

[Term]
id: HP:0100636
name: Pulmonary paraglioma
xref: UMLS:C4022004
is_a: HP:0002668 ! Paraganglioma
is_a: HP:0100526 ! Neoplasm of the lung
created_by: doelkens
creation_date: 2010-12-29T05:23:34Z

[Term]
id: HP:0100637
name: obsolete Neoplasia of the nose
is_obsolete: true
replaced_by: HP:0012720

[Term]
id: HP:0100638
name: Neoplasm of the pharynx
alt_id: HP:0030073
def: "A neoplasm originating in the pharynx." []
comment: Tumors of pharynx may present with nonspecific findings such as otalgia or unilateral otitis media.
synonym: "Neoplasia of the pharynx" EXACT []
synonym: "Pharyngeal neoplasm" EXACT []
synonym: "Tumor of the pharynx" NARROW [ORCID:0000-0001-5889-4463]
xref: MSH:D010610
xref: NCIT:C3262
xref: SNOMEDCT_US:126685009
xref: UMLS:C0031347
is_a: HP:0100630 ! Neoplasia of the nasopharynx
created_by: doelkens
creation_date: 2010-12-29T05:31:55Z

[Term]
id: HP:0100639
name: Erectile abnormalities
synonym: "Abnormal erection" EXACT layperson []
synonym: "Erectile abnormalities" EXACT layperson []
xref: UMLS:C4022003
is_a: HP:0000036 ! Abnormality of the penis
created_by: doelkens
creation_date: 2010-12-29T05:45:28Z

[Term]
id: HP:0100640
name: Laryngeal cyst
def: "Presence of a cyst (sac-like structure) located in the larynx." [HPO:probinson, pmid:24040590]
xref: SNOMEDCT_US:195867000
xref: UMLS:C0339880
is_a: HP:0025423 ! Abnormal larynx morphology
created_by: doelkens
creation_date: 2010-12-29T05:48:37Z

[Term]
id: HP:0100641
name: Neoplasm of the adrenal cortex
def: "The presence of a neoplasm of the adrenal cortex." [HPO:probinson]
synonym: "Cortical adrenal neoplasia" EXACT []
xref: MSH:D000306
xref: NCIT:C3262
xref: SNOMEDCT_US:127022002
xref: SNOMEDCT_US:18365006
xref: UMLS:C0001618
is_a: HP:0100631 ! Neoplasm of the adrenal gland
created_by: doelkens
creation_date: 2010-12-29T05:53:58Z

[Term]
id: HP:0100642
name: Neoplasm of the adrenal medulla
def: "The presence of a neoplasm of the adrenal medulla." [HPO:probinson]
synonym: "Medullar adrenal neoplasia" EXACT []
xref: NCIT:C3262
xref: SNOMEDCT_US:127023007
xref: UMLS:C0596046
is_a: HP:0100631 ! Neoplasm of the adrenal gland
created_by: doelkens
creation_date: 2010-12-29T05:54:15Z

[Term]
id: HP:0100643
name: Abnormality of nail color
def: "An anomaly of the color of the nail." [HPO:probinson]
synonym: "Abnormality of nail color" EXACT layperson []
synonym: "Abnormality of nail colour" EXACT layperson []
synonym: "Nail dyschromia" EXACT []
xref: UMLS:C4020960
is_a: HP:0001597 ! Abnormality of the nail
created_by: doelkens
creation_date: 2010-12-29T05:59:15Z

[Term]
id: HP:0100644
name: Melanonychia
def: "Brown or black discoloration of the nails." [HPO:probinson]
xref: MEDDRA:10058330 "Melanonychia"
xref: SNOMEDCT_US:402633003
xref: UMLS:C1142305
is_a: HP:0100643 ! Abnormality of nail color
created_by: doelkens
creation_date: 2010-12-29T06:00:12Z

[Term]
id: HP:0100645
name: Cystocele
def: "Anterior vaginal wall prolapse with bulging of the bladder into the vagina." [HPO:sdoelken]
comment: Cystocele occurs owing to weakening and stretching of the suppoortive tissue between the bladder and the vaginal wall.
synonym: "Bladder hernia" EXACT layperson []
synonym: "Dropped bladder" EXACT layperson []
synonym: "Prolapsed bladder" EXACT []
xref: ICD-9:618.00
xref: SNOMEDCT_US:252005008
xref: UMLS:C1394494
is_a: HP:0025487 ! Abnormality of bladder morphology
is_a: HP:0031607 ! Pelvic organ prolapse
is_a: HP:0100672 ! Vaginal hernia
created_by: doelkens
creation_date: 2010-12-29T06:05:01Z

[Term]
id: HP:0100646
name: Thyroiditis
def: "Inflammation of the thyroid gland." [HPO:probinson]
synonym: "Thyroid gland inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D013966
xref: SNOMEDCT_US:82119001
xref: UMLS:C0040147
is_a: HP:0011772 ! Abnormality of thyroid morphology
is_a: HP:0012649 ! Increased inflammatory response
created_by: doelkens
creation_date: 2010-12-29T06:08:32Z

[Term]
id: HP:0100647
name: Graves disease
def: "An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients." [HPO:sdoelken]
synonym: "Morbus Basedow" EXACT []
xref: MSH:D006111
xref: SNOMEDCT_US:353295004
xref: SNOMEDCT_US:55807009
xref: UMLS:C0018213
is_a: HP:0011784 ! Thyrotoxicosis with diffuse goiter
created_by: doelkens
creation_date: 2010-12-29T06:08:53Z

[Term]
id: HP:0100648
name: Neoplasm of the tongue
def: "A tumor (abnormal growth of tissue) of the tongue." [HPO:probinson]
xref: MSH:D014062
xref: NCIT:C3262
xref: SNOMEDCT_US:126778001
xref: UMLS:C0040411
is_a: HP:0000157 ! Abnormality of the tongue
is_a: HP:0100649 ! Neoplasm of the oral cavity
created_by: doelkens
creation_date: 2010-12-29T06:14:32Z

[Term]
id: HP:0100649
name: Neoplasm of the oral cavity
def: "A tumor (abnormal growth of tissue) of the oral cavity." [HPO:probinson]
synonym: "Lesion of mouth" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Lesion of oral cavity" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Neoplasm of the mouth" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Tumor of mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Tumor of oral cavity" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D009062
xref: NCIT:C3262
xref: SNOMEDCT_US:1071000119107
xref: SNOMEDCT_US:126797001
xref: SNOMEDCT_US:235075007
xref: UMLS:C0026640
xref: UMLS:C0149744
xref: UMLS:C4280289
is_a: HP:0000163 ! Abnormal oral cavity morphology
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2010-12-29T06:15:14Z

[Term]
id: HP:0100650
name: Vaginal neoplasm
def: "A tumor (abnormal growth of tissue) of the vagina." [HPO:probinson]
synonym: "Vaginal neoplasia" RELATED []
synonym: "Vaginal tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D014625
xref: NCIT:C3262
xref: SNOMEDCT_US:126921000
xref: UMLS:C0042258
xref: UMLS:C0750081
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0010787 ! Genital neoplasm
created_by: doelkens
creation_date: 2010-12-29T06:34:41Z

[Term]
id: HP:0100651
name: Type I diabetes mellitus
def: "A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin." [HPO:probinson]
comment: The onset of type 1 diabetes is typically during adolescence, but it can develop at any age.
synonym: "Diabetes mellitus Type I" EXACT []
synonym: "Insulin-dependent diabetes mellitus" RELATED [HPO:skoehler]
synonym: "Juvenile diabetes mellitus" EXACT []
synonym: "Type 1 diabetes" EXACT layperson []
synonym: "Type I diabetes" EXACT layperson []
xref: MSH:D003922
xref: SNOMEDCT_US:46635009
xref: UMLS:C0011854
is_a: HP:0000819 ! Diabetes mellitus
created_by: doelkens
creation_date: 2010-12-29T06:37:55Z

[Term]
id: HP:0100653
name: Optic neuritis
def: "Inflammation of the optic nerve." [HPO:sdoelken]
comment: Optic neuritis can cause loss of vision because of swelling and destruction of the myelin sheath covering the optic nerve and/or direct axonal damage.
xref: MSH:D009902
xref: SNOMEDCT_US:66760008
xref: UMLS:C0029134
is_a: HP:0000587 ! Abnormality of the optic nerve
is_a: HP:0012649 ! Increased inflammatory response
created_by: doelkens
creation_date: 2010-12-30T09:56:38Z

[Term]
id: HP:0100654
name: Retrobulbar optic neuritis
def: "Optic neuritis that occurs in the section of the optic nerve located behind the eyeball." [HPO:sdoelken]
synonym: "Retrobulbar neuritis" EXACT []
xref: MSH:D009902
xref: SNOMEDCT_US:230507009
xref: UMLS:C0085582
is_a: HP:0100653 ! Optic neuritis
created_by: doelkens
creation_date: 2010-12-30T09:57:09Z

[Term]
id: HP:0100656
name: Thoracoabdominal wall defect
def: "Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development." []
comment: May be accompanied by thoracic ectopia cordis and gastroschisis.
synonym: "Thoracoabdominal schisis" EXACT []
xref: UMLS:C4022002
is_a: HP:0000765 ! Abnormality of the thorax
is_a: HP:0010866 ! Abdominal wall defect
created_by: doelkens
creation_date: 2010-12-30T10:04:18Z

[Term]
id: HP:0100657
name: Thoracoabdominal eventration
def: "Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls." [HPO:sdoelken]
synonym: "Celosomia" EXACT []
synonym: "Kelosomia" EXACT []
xref: SNOMEDCT_US:44518003
xref: UMLS:C0266682
is_a: HP:0100656 ! Thoracoabdominal wall defect
created_by: doelkens
creation_date: 2010-12-30T10:07:54Z

[Term]
id: HP:0100658
name: Cellulitis
alt_id: HP:0003553
def: "A bacterial infection and inflammation of the skin und subcutaneous tissues." []
comment: In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue.
subset: hposlim_core
synonym: "Bacterial infection of skin" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Skin infection" EXACT layperson []
xref: MSH:D002481
xref: MSH:D017192
xref: SNOMEDCT_US:128045006
xref: SNOMEDCT_US:128936008
xref: SNOMEDCT_US:385627004
xref: UMLS:C0007642
xref: UMLS:C0162627
is_a: HP:0003549 ! Abnormality of connective tissue
created_by: doelkens
creation_date: 2010-12-30T10:11:51Z

[Term]
id: HP:0100659
name: Abnormality of the cerebral vasculature
synonym: "Abnormality of the cerebral blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4022001
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0012443 ! Abnormality of brain morphology
created_by: doelkens
creation_date: 2010-12-30T11:39:15Z

[Term]
id: HP:0100660
name: Dyskinesia
def: "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken]
synonym: "Disorder of involuntary muscle movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Dyskinesias" RELATED [HPO:skoehler]
synonym: "Dyskinesis" EXACT []
xref: MSH:D020820
xref: SNOMEDCT_US:9748009
xref: UMLS:C0013384
is_a: HP:0100022 ! Abnormality of movement
created_by: doelkens
creation_date: 2010-12-30T11:46:50Z

[Term]
id: HP:0100661
name: Trigeminal neuralgia
def: "A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected." [HPO:sdoelken]
synonym: "Tic douloureux" EXACT []
xref: MSH:D014277
xref: SNOMEDCT_US:31681005
xref: UMLS:C0040997
is_a: HP:0031911 ! Abnormal fifth cranial nerve physiology
created_by: doelkens
creation_date: 2010-12-30T11:53:47Z

[Term]
id: HP:0100662
name: Chondritis
def: "Inflammation of cartilage." [HPO:sdoelken]
synonym: "Cartilage inflammation" EXACT layperson []
xref: SNOMEDCT_US:46176001
xref: UMLS:C0008439
is_a: HP:0002763 ! Abnormal cartilage morphology
is_a: HP:0012649 ! Increased inflammatory response
created_by: doelkens
creation_date: 2010-12-30T12:57:50Z

[Term]
id: HP:0100663
name: Synotia
def: "A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw." [HPO:sdoelken]
xref: SNOMEDCT_US:77471004
xref: UMLS:C0266677
is_a: HP:0000357 ! Abnormal location of ears
created_by: doelkens
creation_date: 2010-12-30T01:00:36Z

[Term]
id: HP:0100665
name: Angioedema
alt_id: HP:0100666
def: "Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis." [HPO:sdoelken]
comment: Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation.
synonym: "Angioneurotic oedema" EXACT []
synonym: "Angiooedema" EXACT []
synonym: "Quincke edema" EXACT []
xref: MSH:D000799
xref: SNOMEDCT_US:400075008
xref: SNOMEDCT_US:41291007
xref: UMLS:C0002994
is_a: HP:0000969 ! Edema
is_a: HP:0011276 ! Vascular skin abnormality
created_by: doelkens
creation_date: 2010-12-30T01:09:59Z

[Term]
id: HP:0100668
name: Intestinal duplication
def: "A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine." [HPO:probinson]
synonym: "Bowel duplication" EXACT layperson []
synonym: "Gut duplication" RELATED layperson []
xref: SNOMEDCT_US:3845008
xref: UMLS:C0266166
xref: UMLS:C4020702
is_a: HP:0002242 ! Abnormal intestine morphology
is_a: HP:0011140 ! Gastrointestinal duplication
created_by: doelkens
creation_date: 2010-12-30T01:23:50Z

[Term]
id: HP:0100669
name: Abnormal pigmentation of the oral mucosa
def: "An abnormality of the pigmentation of the mucosa of the mouth." [HPO:probinson]
synonym: "Abnormal color of the oral mucosa" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal pigmentation of oral cavity" EXACT []
synonym: "Abnormal pigmentation of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal pigmentation of the oral mucosa/gingivae" EXACT []
xref: UMLS:C4020959
is_a: HP:0011830 ! Abnormal oral mucosa morphology
created_by: doelkens
creation_date: 2010-12-30T01:25:45Z

[Term]
id: HP:0100670
name: Rough bone trabeculation
synonym: "Rough trabeculation of bone" EXACT []
xref: UMLS:C4020958
is_a: HP:0100671 ! Abnormal trabecular bone morphology
created_by: doelkens
creation_date: 2010-12-30T01:29:46Z

[Term]
id: HP:0100671
name: Abnormal trabecular bone morphology
def: "Abnormal structure or form of trabecular bone." [HPO:probinson]
synonym: "Abnormal shape of spongy bone" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of bone trabeculation" EXACT []
xref: UMLS:C4020957
is_a: HP:0003330 ! Abnormal bone structure
created_by: doelkens
creation_date: 2010-12-30T01:30:05Z

[Term]
id: HP:0100672
name: Vaginal hernia
def: "The presence of a hernia of the vagina." [HPO:probinson]
xref: SNOMEDCT_US:397786004
xref: UMLS:C1442998
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0100823 ! Genital hernia
created_by: doelkens
creation_date: 2010-12-30T01:35:05Z

[Term]
id: HP:0100673
name: Vaginal hydrocele
comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina.
xref: MSH:D006848
xref: SNOMEDCT_US:26614003
xref: SNOMEDCT_US:386152007
xref: SNOMEDCT_US:55434001
xref: UMLS:C1720771
is_a: HP:0000045 ! Abnormality of the scrotum
created_by: doelkens
creation_date: 2010-12-30T01:36:39Z

[Term]
id: HP:0100674
name: Vaginal hematocele
comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina.
xref: UMLS:C1456401
is_a: HP:0000045 ! Abnormality of the scrotum
created_by: doelkens
creation_date: 2010-12-30T01:36:39Z

[Term]
id: HP:0100675
name: Vaginal pyocele
comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina.
xref: UMLS:C4022000
is_a: HP:0000045 ! Abnormality of the scrotum
created_by: doelkens
creation_date: 2010-12-30T01:36:39Z

[Term]
id: HP:0100676
name: Vaginal lymphocele
comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina.
xref: UMLS:C4021999
is_a: HP:0000045 ! Abnormality of the scrotum
created_by: doelkens
creation_date: 2010-12-30T01:36:39Z

[Term]
id: HP:0100677
name: Vulval varicose vein
def: "Varicosity of veins in the vulval region." [HPO:probinson]
xref: SNOMEDCT_US:48868008
xref: UMLS:C0155796
is_a: HP:0000055 ! Abnormality of female external genitalia
is_a: HP:0002619 ! Varicose veins
created_by: doelkens
creation_date: 2010-12-30T01:36:39Z

[Term]
id: HP:0100678
name: Premature skin wrinkling
alt_id: HP:0200074
def: "The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms." [HPO:probinson]
subset: hposlim_core
synonym: "Premature skin wrinkling" EXACT layperson []
synonym: "Wrinkled skin" RELATED layperson []
xref: MEDDRA:10040954 "Skin wrinkling"
xref: MSH:D015595
xref: SNOMEDCT_US:247434009
xref: UMLS:C0037301
is_a: HP:0007495 ! Prematurely aged appearance
created_by: doelkens
creation_date: 2010-12-30T01:43:36Z

[Term]
id: HP:0100679
name: Lack of skin elasticity
synonym: "Tight skin" RELATED layperson []
xref: SNOMEDCT_US:297957009
xref: UMLS:C0558242
xref: UMLS:C4021998
is_a: HP:0010647 ! Abnormal elasticity of skin
created_by: doelkens
creation_date: 2010-12-30T01:48:15Z

[Term]
id: HP:0100681
name: Esophageal duplication
def: "A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication." [HPO:probinson, pmid:10464795]
comment: Esophageal duplication is a rare cause of mediastinal mass. An esophageal duplication may be a simple epithelial cyst or duplication that contains muscle and submucosa but not epithelium. In most cases, the duplication is located in the lower thrid of the esophagus, and the most common associated symptom is difficulty in swallowing. Esophageal duplication occurs because of maldevelopment of the posterior division of embryonic foregut.
xref: SNOMEDCT_US:66865009
xref: UMLS:C0266135
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0011140 ! Gastrointestinal duplication
created_by: doelkens
creation_date: 2010-12-30T02:08:38Z

[Term]
id: HP:0100682
name: Tracheal atresia
def: "A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking." [HPO:probinson, pmid:9776081]
comment: Diagnosis\ncan be made if the neonate presents with respiratory\ndistress at birth, unable to produce an audible cry in spite\nof an obvious physical effort, and cannot be intubated but\nshows some improvement when ventilated by bag and\nmask.
xref: SNOMEDCT_US:53189005
xref: UMLS:C0265766
is_a: HP:0002777 ! Tracheal stenosis
created_by: doelkens
creation_date: 2010-12-30T02:09:37Z

[Term]
id: HP:0100684
name: Salivary gland neoplasm
def: "A tumor (abnormal growth of tissue) of a salivary gland." [HPO:probinson]
synonym: "Cancer of salivary gland" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Salivary gland neoplasia" EXACT []
synonym: "Tumor of salivary gland" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D012468
xref: NCIT:C3262
xref: SNOMEDCT_US:235132004
xref: SNOMEDCT_US:255072001
xref: UMLS:C0036095
xref: UMLS:C0220636
is_a: HP:0010286 ! Abnormal salivary gland morphology
is_a: HP:0100649 ! Neoplasm of the oral cavity
created_by: doelkens
creation_date: 2010-12-30T02:20:38Z

[Term]
id: HP:0100685
name: Abnormal Sharpey fiber morphology
def: "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone." [HPO:probinson]
synonym: "Abnormality of Sharpey fibers" EXACT []
synonym: "Enthesis abnormality" RELATED []
xref: UMLS:C4020701
xref: UMLS:C4021997
is_a: HP:0003549 ! Abnormality of connective tissue
created_by: doelkens
creation_date: 2010-12-30T02:25:32Z

[Term]
id: HP:0100686
name: Enthesitis
synonym: "Inflammation of sharpey fibers" EXACT []
xref: SNOMEDCT_US:359643005
xref: UMLS:C1282952
is_a: HP:0100685 ! Abnormal Sharpey fiber morphology
created_by: doelkens
creation_date: 2010-12-30T02:27:20Z

[Term]
id: HP:0100687
name: Polyotia
def: "The presence of an extra auricle on one or both sides of the head." [HPO:sdoelken]
xref: SNOMEDCT_US:35547002
xref: UMLS:C0266611
is_a: HP:0000356 ! Abnormality of the outer ear
created_by: doelkens
creation_date: 2010-12-30T02:30:14Z

[Term]
id: HP:0100689
name: Decreased corneal thickness
def: "A decreased anteroposterior thickness of the cornea." [HPO:gblack]
synonym: "Thin cornea" EXACT layperson []
xref: SNOMEDCT_US:423459005
xref: UMLS:C1096274
is_a: HP:0011486 ! Abnormality of corneal thickness
created_by: doelkens
creation_date: 2011-02-18T04:40:41Z

[Term]
id: HP:0100690
name: Mosaic central corneal dystrophy
xref: UMLS:C4021996
is_a: HP:0007836 ! Mosaic corneal dystrophy
is_a: HP:0007881 ! Central corneal dystrophy
created_by: doelkens
creation_date: 2011-02-18T04:52:59Z

[Term]
id: HP:0100691
name: Abnormality of the curvature of the cornea
xref: UMLS:C4021995
is_a: HP:0000481 ! Abnormal cornea morphology
created_by: doelkens
creation_date: 2011-02-18T04:58:48Z

[Term]
id: HP:0100692
name: Increased corneal curvature
def: "An increase in the degree of curvature of the cornea compared to normal." [DDD:ncarter]
synonym: "Steep corneal curvature" EXACT []
xref: UMLS:C4020956
is_a: HP:0100691 ! Abnormality of the curvature of the cornea
created_by: doelkens
creation_date: 2011-02-18T05:01:31Z

[Term]
id: HP:0100693
name: Iridodonesis
def: "Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens." [HPO:sdoelken]
xref: SNOMEDCT_US:118166004
xref: UMLS:C0423320
is_a: HP:0000525 ! Abnormality iris morphology
created_by: doelkens
creation_date: 2011-02-18T05:11:16Z

[Term]
id: HP:0100694
name: Tibial torsion
def: "Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia." [HPO:sdoelken]
comment: Normally, lateral rotation of the tibia increases from approximately 5 degrees at birth to approximately 15 degrees at maturity. Tibial torsion is the most common cause of intoeing. In a study by Mullaji et al to determine tibial torsion norms, individuals in India were found to have less tibial torsion than Caucasians but about the same amount as the Japanese population. The differences in normal tibial torsion values are expected to be caused by the different lifestyles and postures of the different populations, such as cross-legged sitting positions.
xref: SNOMEDCT_US:249785006
xref: UMLS:C0426900
is_a: HP:0002992 ! Abnormality of tibia morphology
created_by: doelkens
creation_date: 2011-03-28T05:04:08Z

[Term]
id: HP:0100695
name: Lipedema
def: "Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise ." [HPO:sdoelken]
comment: The pattern of fat deposition is most often bilateral, symmetrical and usually from the waist to a distinct line just above the ankles.
xref: MSH:D065134
xref: SNOMEDCT_US:234102003
xref: UMLS:C0398370
is_a: HP:0009126 ! Increased adipose tissue
created_by: doelkens
creation_date: 2011-03-28T04:43:32Z

[Term]
id: HP:0100697
name: Neurofibrosarcoma
def: "A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma." [HPO:sdoelken]
comment: About half the cases are diagnosed in people with neurofibromatosis.
synonym: "Malignant peripheral nerve sheath tumor" EXACT []
synonym: "Malignant schwannoma" EXACT []
synonym: "Neurosarcoma" EXACT []
xref: MSH:D009442
xref: MSH:D018319
xref: NCIT:C3798
xref: SNOMEDCT_US:19897006
xref: SNOMEDCT_US:404037002
xref: SNOMEDCT_US:77418004
xref: UMLS:C0206729
xref: UMLS:C0751690
is_a: HP:0030448 ! Soft tissue sarcoma
created_by: doelkens
creation_date: 2011-03-29T11:40:44Z

[Term]
id: HP:0100698
name: Subcutaneous neurofibromas
def: "The presence of Neurofibromas in the subcutis." [HPO:sdoelken]
xref: SNOMEDCT_US:425327002
xref: UMLS:C1827970
is_a: HP:0001067 ! Neurofibromas
created_by: doelkens
creation_date: 2011-03-29T12:03:47Z

[Term]
id: HP:0100699
name: Scarring
synonym: "Scar tissue" RELATED layperson []
synonym: "Scarring" EXACT layperson []
xref: MSH:D002921
xref: SNOMEDCT_US:48677004
xref: UMLS:C0008767
is_a: HP:0003549 ! Abnormality of connective tissue
created_by: koehlers
creation_date: 2011-03-29T06:39:56Z

[Term]
id: HP:0100700
name: Abnormal arachnoid mater morphology
def: "An abnormality of the Arachnoid mater." [HPO:sdoelken]
synonym: "Abnormality of the arachnoid mater" EXACT []
synonym: "Abnormality of the arachnoidea" EXACT []
xref: UMLS:C4020955
is_a: HP:0010651 ! Abnormal meningeal morphology
created_by: doelkens
creation_date: 2011-03-31T12:43:27Z

[Term]
id: HP:0100701
name: Abnormal pia mater
def: "An abnormality of the pia mater." [HPO:sdoelken]
synonym: "Abnormality of the pia mater" EXACT []
xref: UMLS:C4021994
is_a: HP:0010651 ! Abnormal meningeal morphology
created_by: doelkens
creation_date: 2011-03-31T12:44:41Z

[Term]
id: HP:0100702
name: Arachnoid cyst
def: "An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid." [HPO:sdoelken]
comment: Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural.
synonym: "Arachnoid cysts" RELATED [HPO:skoehler]
synonym: "Fluid-filled sac located in membrane surrounding brain or spinal cord" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D016080
xref: SNOMEDCT_US:33595009
xref: UMLS:C0078981
is_a: HP:0100700 ! Abnormal arachnoid mater morphology
created_by: doelkens
creation_date: 2011-03-31T12:46:59Z

[Term]
id: HP:0100703
name: Tongue thrusting
synonym: "Tongue thrusting" EXACT layperson []
xref: SNOMEDCT_US:110343009
xref: SNOMEDCT_US:424583005
xref: UMLS:C1829460
is_a: HP:0000733 ! Stereotypy
created_by: doelkens
creation_date: 2011-03-31T12:54:41Z

[Term]
id: HP:0100704
name: Cerebral visual impairment
alt_id: HP:0000595
def: "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson, PMID:28082927]
comment: The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation.
synonym: "Cortical blindness" EXACT []
synonym: "Cortical visual impairment" EXACT []
synonym: "Cortical/cerebral visual impairment" EXACT []
synonym: "CVI" EXACT HP:0045077 []
xref: MSH:D019575
xref: SNOMEDCT_US:413924001
xref: SNOMEDCT_US:68574006
xref: UMLS:C0155320
xref: UMLS:C4048268
is_a: HP:0000505 ! Visual impairment
created_by: doelkens
creation_date: 2011-03-31T01:03:21Z

[Term]
id: HP:0100705
name: Abnormality of the glial cells
def: "An abnormality of the glia cell." [HPO:probinson]
comment: Glia are nonneuronal cells of the nervous system that provide physical support, respond to injury, regulate the composition of the extracellular milieu, guide neuronal migration during development, and exchange metabolites with neurons.
xref: UMLS:C4021993
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
created_by: doelkens
creation_date: 2011-04-03T02:33:49Z

[Term]
id: HP:0100706
name: Abnormality of the oligodendroglia
def: "One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers." [HPO:sdoelken]
xref: UMLS:C4021992
is_a: HP:0100705 ! Abnormality of the glial cells
created_by: doelkens
creation_date: 2011-04-03T02:34:15Z

[Term]
id: HP:0100707
name: Abnormality of the astrocytes
def: "An abnormality of astrocytes." [HPO:probinson]
comment: Astrocytes represent a class of large neuroglial (macroglial) cells in the central nervous system.
xref: UMLS:C4021991
is_a: HP:0100705 ! Abnormality of the glial cells
created_by: doelkens
creation_date: 2011-04-03T02:36:46Z

[Term]
id: HP:0100708
name: Abnormality of the microglia
def: "An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells." [HPO:probinson]
comment: Microglial cells represent a central nervous system macrophage found in the parenchyma of the central nervous system.
xref: UMLS:C4021990
is_a: HP:0100705 ! Abnormality of the glial cells
created_by: doelkens
creation_date: 2011-04-03T02:37:09Z

[Term]
id: HP:0100709
name: Reduction of oligodendroglia
xref: UMLS:C4021852
is_a: HP:0100706 ! Abnormality of the oligodendroglia
created_by: doelkens
creation_date: 2011-04-03T02:39:50Z

[Term]
id: HP:0100710
name: Impulsivity
def: "Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress." [PMID:23902698]
synonym: "Impulsive" EXACT layperson []
synonym: "Impulsivity" EXACT layperson []
xref: MSH:D007175
xref: UMLS:C0021125
is_a: HP:0000734 ! Disinhibition
created_by: doelkens
creation_date: 2011-04-07T05:36:16Z

[Term]
id: HP:0100711
name: Abnormality of the thoracic spine
def: "An abnormality of the thoracic vertebral column." [HPO:probinson]
xref: UMLS:C4021989
is_a: HP:0000765 ! Abnormality of the thorax
is_a: HP:0000925 ! Abnormality of the vertebral column
created_by: doelkens
creation_date: 2011-05-05T09:37:17Z

[Term]
id: HP:0100712
name: Abnormality of the lumbar spine
def: "An abnormality of the lumbar vertebral column." [HPO:probinson]
xref: UMLS:C4021988
is_a: HP:0000925 ! Abnormality of the vertebral column
created_by: doelkens
creation_date: 2011-05-05T09:37:33Z

[Term]
id: HP:0100716
name: Self-injurious behavior
def: "Aggression towards oneself." [HPO:sdoelken]
synonym: "Autoagression" EXACT []
synonym: "Self injury" EXACT []
synonym: "Self-harm" EXACT []
synonym: "Self-injurious behavior" EXACT layperson []
synonym: "Self-injurious behaviors" RELATED layperson [HPO:skoehler]
synonym: "Self-injurious behaviour" EXACT layperson []
xref: MSH:D016728
xref: SNOMEDCT_US:248062006
xref: UMLS:C0085271
is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior
created_by: doelkens
creation_date: 2011-05-16T06:47:54Z

[Term]
id: HP:0100717
name: Abnormality of the cementum
xref: UMLS:C4021987
is_a: HP:0011061 ! Abnormality of dental structure
is_a: HP:3000050 ! Abnormality of odontoid tissue
created_by: doelkens
creation_date: 2011-06-06T01:33:28Z

[Term]
id: HP:0100718
name: Uterine rupture
xref: MSH:D014597
xref: SNOMEDCT_US:34430009
xref: UMLS:C0042143
is_a: HP:0031105 ! Abnormal uterus morphology
created_by: doelkens
creation_date: 2011-06-06T01:49:29Z

[Term]
id: HP:0100719
name: Lens coloboma
def: "A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence." [HPO:probinson]
subset: hposlim_core
xref: SNOMEDCT_US:204134008
xref: UMLS:C0344516
is_a: HP:0000589 ! Coloboma
is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens
created_by: doelkens
creation_date: 2011-06-06T02:16:53Z

[Term]
id: HP:0100720
name: Hypoplasia of the ear cartilage
synonym: "Underdeveloped ear cartilage" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021986
is_a: HP:0000377 ! Abnormality of the pinna
created_by: doelkens
creation_date: 2011-06-06T02:17:54Z

[Term]
id: HP:0100721
name: Mediastinal lymphadenopathy
def: "Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes." [HPO:probinson]
synonym: "Swollen lymph nodes in center of chest" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:52324001
xref: UMLS:C0520743
is_a: HP:0002716 ! Lymphadenopathy
is_a: HP:0045026 ! Abnormality of the mediastinum
created_by: doelkens
creation_date: 2011-06-06T02:26:55Z

[Term]
id: HP:0100723
name: Gastrointestinal stroma tumor
synonym: "Gastrointestinal stromal tumor" EXACT []
synonym: "Gastrointestinal stromal tumors" RELATED [HPO:skoehler]
synonym: "GI stroma tumor" EXACT HP:0045077 []
synonym: "GIST" EXACT HP:0045077 [HPO:skoehler]
xref: MSH:D046152
xref: SNOMEDCT_US:128755003
xref: SNOMEDCT_US:420120006
xref: UMLS:C0238198
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
created_by: doelkens
creation_date: 2011-06-06T02:49:58Z

[Term]
id: HP:0100724
name: Hypercoagulability
def: "An abnormality of coagulation associated with an increased risk of thrombosis." [HPO:probinson]
synonym: "Blood hyperviscosity" EXACT []
synonym: "Thrombophilia" EXACT []
xref: MSH:D019851
xref: SNOMEDCT_US:234467004
xref: SNOMEDCT_US:76612001
xref: UMLS:C0398623
is_a: HP:0001928 ! Abnormality of coagulation
created_by: doelkens
creation_date: 2011-06-06T04:04:38Z

[Term]
id: HP:0100725
name: Lichenification
def: "Thickening and hardening of the epidermis seen with exaggeration of normal skin lines." [HPO:probinson]
xref: SNOMEDCT_US:19940005
xref: SNOMEDCT_US:402237006
xref: UMLS:C0023653
is_a: HP:0011121 ! Abnormality of skin morphology
created_by: doelkens
creation_date: 2011-06-06T04:18:53Z

[Term]
id: HP:0100726
name: Kaposi's sarcoma
def: "A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV)." [HPO:sdoelken]
xref: MSH:D012514
xref: SNOMEDCT_US:109385007
xref: SNOMEDCT_US:49937004
xref: UMLS:C0036220
is_a: HP:0008069 ! Neoplasm of the skin
created_by: doelkens
creation_date: 2011-06-06T04:33:09Z

[Term]
id: HP:0100727
name: Histiocytosis
def: "An excessive number of histiocytes (tissue macrophages)." [HPO:sdoelken]
xref: MSH:D015614
xref: SNOMEDCT_US:60657004
xref: SNOMEDCT_US:65396000
xref: UMLS:C0019618
is_a: HP:0004311 ! Abnormal macrophage morphology
created_by: doelkens
creation_date: 2011-06-06T04:43:05Z

[Term]
id: HP:0100728
name: Germ cell neoplasia
xref: NCIT:C3708
xref: UMLS:C4021985
is_a: HP:0010785 ! Gonadal neoplasm
created_by: doelkens
creation_date: 2011-06-06T04:46:36Z

[Term]
id: HP:0100729
name: Large face
synonym: "Big face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large face" EXACT layperson []
synonym: "Large facies" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C2748652
is_a: HP:0001999 ! Abnormal facial shape
created_by: doelkens
creation_date: 2011-06-06T04:50:47Z

[Term]
id: HP:0100730
name: Bronchogenic cyst
def: "A rare congenital cystic lesion of the lungs in the mediastinum." [HPO:sdoelken, PMID:24605255]
comment: Bronchogenic cysts (BCs) are congenital lesions thought to result from abnormal budding of the embryonic foregut. The most frequent symptoms are pain, cough, fever, respiratory distress, or dyspnea. Intrapulmonary bronchogenic cysts are usually sharply defined, solitary, non-calcified, round, or oval opacities confined to a single lobe. These can present as a homogeneous water density, an air- filled cyst, or with an air-fluid level. The cyst can rupture into the trachea, pericardial cavity, or pleural cavity. Infection of the cyst may lead to surrounding acinar shadow. An air-filled cyst or one with an air-fluid level may be present if a complicating tracheo-bronchial connection develops.
xref: MSH:D001994
xref: SNOMEDCT_US:268194008
xref: SNOMEDCT_US:9550003
xref: UMLS:C0006281
is_a: HP:0032445 ! Pulmonary cyst
created_by: doelkens
creation_date: 2011-06-06T05:01:27Z

[Term]
id: HP:0100731
name: Transverse facial cleft
def: "A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear." [DDD:jhurst]
comment: Usually, these clefts are unilateral and do not extend beyond the anterior border of the masseter. Transverse clefts are thought to develop either due to failure of the maxillary and mandibular processes to fuse or a disruption in the processes after fusing.
synonym: "Lateral facial cleft" EXACT []
synonym: "Tessier cleft number 7" EXACT []
synonym: "Tessier facial cleft number 6" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Tessier facial cleft number 7" EXACT []
synonym: "Tessier facial cleft number 8" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4020954
is_a: HP:0002006 ! Facial cleft
is_a: HP:0011338 ! Abnormality of mouth shape
created_by: doelkens
creation_date: 2011-06-06T05:03:42Z

[Term]
id: HP:0100732
name: Pancreatic fibrosis
xref: SNOMEDCT_US:25942009
xref: UMLS:C0267952
is_a: HP:0012090 ! Abnormal pancreas morphology
created_by: doelkens
creation_date: 2011-06-06T05:06:26Z

[Term]
id: HP:0100733
name: Neoplasm of the parathyroid gland
def: "A tumor (abnormal growth of tissue) of the parathyroid gland." [HPO:probinson]
synonym: "Parathyroid neoplasia" EXACT []
xref: MSH:D010282
xref: NCIT:C3262
xref: SNOMEDCT_US:127020005
xref: UMLS:C0030521
is_a: HP:0011766 ! Abnormality of the parathyroid morphology
is_a: HP:0100568 ! Neoplasm of the endocrine system
created_by: doelkens
creation_date: 2011-06-06T05:09:38Z

[Term]
id: HP:0100734
name: Abnormality of vertebral epiphysis morphology
def: "An anomaly of one or more epiphyses of one or more vertebrae." []
synonym: "Abnormal shape of the end part of the vertebra bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the vertebral epiphyses" EXACT []
xref: UMLS:C4020953
is_a: HP:0003468 ! Abnormal vertebral morphology
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: doelkens
creation_date: 2011-06-06T05:13:08Z

[Term]
id: HP:0100735
name: Hypertensive crisis
xref: SNOMEDCT_US:706882009
xref: UMLS:C0020546
is_a: HP:0000822 ! Hypertension
created_by: doelkens
creation_date: 2011-06-06T05:38:31Z

[Term]
id: HP:0100736
name: Abnormal soft palate morphology
def: "An abnormality of the soft palate." [HPO:probinson]
synonym: "Abnormality of the muscular palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the soft palate" EXACT []
synonym: "Abnormality of the velum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the velum palatinum" EXACT [HPO:skoehler]
xref: UMLS:C4021984
is_a: HP:0000174 ! Abnormal palate morphology
created_by: doelkens
creation_date: 2011-06-06T05:41:48Z

[Term]
id: HP:0100737
name: Abnormal hard palate morphology
synonym: "Abnormality of the hard palate" EXACT []
synonym: "Abnormality of the secondary palate" BROAD [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021983
is_a: HP:0000174 ! Abnormal palate morphology
created_by: doelkens
creation_date: 2011-06-06T05:42:10Z

[Term]
id: HP:0100738
name: Abnormal eating behavior
def: "Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption." []
comment: Note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder, which is a psychological disorder that is characterized by one or more abnormal eating behaviors.
synonym: "Abnormal eating behavior" EXACT layperson []
xref: UMLS:C4021982
is_a: HP:0040202 ! Abnormal consumption behavior
created_by: doelkens
creation_date: 2011-06-06T05:54:51Z

[Term]
id: HP:0100739
name: Bulimia
def: "A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these)." [HPO:probinson, pmid:23346610]
synonym: "Binge and purge" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D002032
xref: SNOMEDCT_US:78004001
xref: UMLS:C0006370
is_a: HP:0100738 ! Abnormal eating behavior
created_by: doelkens
creation_date: 2011-06-06T05:55:43Z

[Term]
id: HP:0100742
name: Vascular neoplasm
def: "A benign or malignant neoplasm (tumour) originating in the vascular system." [HPO:probinson]
synonym: "Blood vessel tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009383
xref: MSH:D019043
xref: NCIT:C3262
xref: SNOMEDCT_US:115235003
xref: SNOMEDCT_US:126736007
xref: SNOMEDCT_US:699605009
xref: UMLS:C0027668
xref: UMLS:C0282607
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2011-06-06T06:08:26Z

[Term]
id: HP:0100743
name: Neoplasm of the rectum
synonym: "Rectal tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D012004
xref: NCIT:C3262
xref: SNOMEDCT_US:126847008
xref: UMLS:C0034885
is_a: HP:0002034 ! Abnormality of the rectum
is_a: HP:0100834 ! Neoplasm of the large intestine
created_by: doelkens
creation_date: 2011-06-06T06:20:18Z

[Term]
id: HP:0100744
name: Abnormality of the humeroradial joint
xref: UMLS:C4021981
is_a: HP:0009811 ! Abnormality of the elbow
created_by: doelkens
creation_date: 2011-06-06T06:24:45Z

[Term]
id: HP:0100745
name: Abnormality of the humeroulnar joint
def: "An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint." [HPO:probinson]
xref: UMLS:C4021980
is_a: HP:0009811 ! Abnormality of the elbow
created_by: doelkens
creation_date: 2011-06-06T06:25:05Z

[Term]
id: HP:0100746
name: Macrodactyly of finger
def: "A type of Macrodactyly affecting one or several fingers." [HPO:probinson]
synonym: "Macrodactyly of hands" EXACT []
xref: MSH:C537720
xref: SNOMEDCT_US:297195000
xref: UMLS:C0574044
is_a: HP:0001167 ! Abnormality of finger
is_a: HP:0004099 ! Macrodactyly
created_by: doelkens
creation_date: 2011-06-06T06:29:55Z

[Term]
id: HP:0100747
name: Macrodactyly of toe
def: "A type of Macrodactyly affecting one or several toes." [HPO:probinson]
synonym: "Foot macrodactyly" EXACT []
xref: MSH:C537719
xref: UMLS:C2931596
is_a: HP:0001780 ! Abnormality of toe
is_a: HP:0004099 ! Macrodactyly
created_by: doelkens
creation_date: 2011-06-06T06:29:55Z

[Term]
id: HP:0100748
name: Muscular edema
xref: UMLS:C4021979
is_a: HP:0000969 ! Edema
is_a: HP:0011805 ! Abnormal muscle morphology
created_by: doelkens
creation_date: 2011-06-06T06:31:20Z

[Term]
id: HP:0100749
name: Chest pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest." []
synonym: "Chest pain" EXACT layperson []
synonym: "Thoracic pain" EXACT []
xref: MSH:D002637
xref: SNOMEDCT_US:29857009
xref: UMLS:C0008031
is_a: HP:0000765 ! Abnormality of the thorax
is_a: HP:0012531 ! Pain
created_by: doelkens
creation_date: 2011-06-06T06:36:48Z

[Term]
id: HP:0100750
name: Atelectasis
def: "Collapse of part of a lung associated with absence of inflation (air) of that part." [HPPO:probinson]
synonym: "Partial or complete collapse of part or entire lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Pulmonary atelectasis" EXACT []
xref: MSH:D001261
xref: SNOMEDCT_US:46621007
xref: UMLS:C0004144
is_a: HP:0002088 ! Abnormal lung morphology
created_by: doelkens
creation_date: 2011-06-06T06:38:53Z

[Term]
id: HP:0100751
name: Esophageal neoplasm
def: "A tumor (abnormal growth of tissue) of the esophagus." []
synonym: "Esophageal tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D004938
xref: NCIT:C3262
xref: SNOMEDCT_US:126817006
xref: UMLS:C0014859
is_a: HP:0002031 ! Abnormal esophagus morphology
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
is_a: HP:0012288 ! Neoplasm of head and neck
created_by: doelkens
creation_date: 2011-06-06T06:44:54Z

[Term]
id: HP:0100752
name: Abnormal liver lobulation
def: "Formation of abnormal lobules (small masses of tissue) in the liver." [HPO:probinson]
synonym: "Anomalous liver lobulation" EXACT []
synonym: "Hepatic anomalous lobulation" EXACT []
xref: SNOMEDCT_US:253811003
xref: UMLS:C0345286
is_a: HP:0030146 ! Abnormal liver parenchyma morphology
created_by: doelkens
creation_date: 2011-06-06T06:47:05Z

[Term]
id: HP:0100753
name: Schizophrenia
def: "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%." [HPO:sdoelken]
comment: Positive symptoms, such as delusions and hallucinations (especially of voices), are common, and any Schneiderian first-rank symptoms are particularly indicative of the illness. Negative symptoms include social withdrawal, impairment of ego boundaries, and loss of energy and initiative. Schizophrenia is diagnosed only if symptoms persist for at least one month. The illness can spontaneously remit, run a course with infrequent or frequent relapses, or become chronic. The prognosis has improved with antipsychotic drugs and with vigorous psychological and social management and rehabilitation. The many causes include genetic factors, environmental stress, and various triggering factors.
xref: MSH:D012559
xref: SNOMEDCT_US:191526005
xref: SNOMEDCT_US:58214004
xref: UMLS:C0036341
is_a: HP:0000708 ! Behavioral abnormality
created_by: doelkens
creation_date: 2011-06-07T09:53:08Z

[Term]
id: HP:0100754
name: Mania
def: "A state of abnormally elevated or irritable mood, arousal, and or energy levels." [PMID:15104084]
synonym: "Manic" EXACT layperson []
xref: MSH:D001714
xref: SNOMEDCT_US:231494001
xref: UMLS:C0338831
is_a: HP:0000708 ! Behavioral abnormality
created_by: doelkens
creation_date: 2011-06-07T09:54:05Z

[Term]
id: HP:0100755
name: Abnormality of salivation
synonym: "Abnormal spit" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of salivation" EXACT layperson []
xref: UMLS:C4021978
is_a: HP:0031815 ! Abnormal oral physiology
created_by: doelkens
creation_date: 2011-06-07T10:01:04Z

[Term]
id: HP:0100757
name: Pancreatoblastoma
def: "A rare pediatric carcinoma of the pancreas." [HPO:sdoelken]
xref: MSH:C537162
xref: SNOMEDCT_US:53618008
xref: UMLS:C0334489
is_a: HP:0002894 ! Neoplasm of the pancreas
created_by: doelkens
creation_date: 2011-06-07T10:05:52Z

[Term]
id: HP:0100758
name: Gangrene
def: "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
comment: This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy.
synonym: "Death of body tissue due to lack of blood flow or infection" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D005734
xref: SNOMEDCT_US:36024000
xref: SNOMEDCT_US:372070002
xref: UMLS:C0017086
is_a: HP:0025142 ! Constitutional symptom
created_by: doelkens
creation_date: 2011-06-07T10:19:11Z

[Term]
id: HP:0100759
name: Clubbing of fingers
def: "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken]
subset: hposlim_core
synonym: "Clubbed fingers" EXACT layperson []
synonym: "Clubbing (hands)" EXACT layperson []
synonym: "Clubbing of fingers" EXACT layperson []
synonym: "Finger clubbing" EXACT layperson []
xref: MEDDRA:10016680 "Finger clubbing"
xref: MSH:D010005
xref: SNOMEDCT_US:30760008
xref: UMLS:C0009080
is_a: HP:0001211 ! Abnormal fingertip morphology
is_a: HP:0001217 ! Clubbing
created_by: doelkens
creation_date: 2011-06-07T10:25:26Z

[Term]
id: HP:0100760
name: Clubbing of toes
def: "Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken]
synonym: "Clubbed toes" RELATED layperson []
synonym: "Clubbing of feet" EXACT layperson []
xref: MSH:D003025
xref: SNOMEDCT_US:249808002
xref: SNOMEDCT_US:397932003
xref: SNOMEDCT_US:53148007
xref: UMLS:C0009081
xref: UMLS:C3887489
is_a: HP:0001217 ! Clubbing
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
created_by: doelkens
creation_date: 2011-06-07T10:25:26Z

[Term]
id: HP:0100761
name: Visceral angiomatosis
xref: UMLS:C4021977
is_a: HP:0007461 ! Hemangiomatosis
created_by: doelkens
creation_date: 2011-06-07T10:33:09Z

[Term]
id: HP:0100762
name: Hemobilia
def: "Bleeding into the biliary tree." [HPO:sdoelken]
synonym: "Haemobilia" EXACT []
xref: MSH:D006431
xref: SNOMEDCT_US:66556007
xref: UMLS:C0018994
is_a: HP:0012439 ! Abnormal biliary tract physiology
created_by: doelkens
creation_date: 2011-06-07T10:36:09Z

[Term]
id: HP:0100763
name: Abnormality of the lymphatic system
alt_id: HP:0003012
def: "An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively." [HPO:probinson]
synonym: "Lymphatic disease" RELATED []
xref: MSH:D008206
xref: SNOMEDCT_US:111590001
xref: SNOMEDCT_US:234087005
xref: SNOMEDCT_US:3305006
xref: SNOMEDCT_US:362971004
xref: UMLS:C0024228
xref: UMLS:C4021976
is_a: HP:0002597 ! Abnormality of the vasculature
is_a: HP:0002715 ! Abnormality of the immune system
created_by: doelkens
creation_date: 2011-06-07T10:40:36Z

[Term]
id: HP:0100764
name: Lymphangioma
def: "Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor." [HPO:probinson, PMID:12376602]
xref: MSH:D008202
xref: NCIT:C8965
xref: SNOMEDCT_US:253057002
xref: SNOMEDCT_US:254836000
xref: SNOMEDCT_US:400178008
xref: SNOMEDCT_US:69044001
xref: UMLS:C0024221
is_a: HP:0010566 ! Hamartoma
is_a: HP:0100763 ! Abnormality of the lymphatic system
created_by: doelkens
creation_date: 2011-06-07T10:41:13Z

[Term]
id: HP:0100765
name: Abnormality of the tonsils
def: "An abnormality of the tonsils." [HPO:probinson]
xref: UMLS:C4021975
is_a: HP:0100763 ! Abnormality of the lymphatic system
created_by: doelkens
creation_date: 2011-06-07T10:43:35Z

[Term]
id: HP:0100766
name: Abnormal lymphatic vessel morphology
def: "A structural anomaly of the vessel that contains or conveys lymph fluid." [https://en.wikipedia.org/wiki/Lymphatic_vessel]
synonym: "Abnormality of the lymphatic vessels" EXACT []
xref: UMLS:C4021974
is_a: HP:0025015 ! Abnormal vascular morphology
is_a: HP:0100763 ! Abnormality of the lymphatic system
created_by: doelkens
creation_date: 2011-06-07T10:44:54Z

[Term]
id: HP:0100767
name: Abnormality of the placenta
def: "An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange." [HPO:probinson]
synonym: "Placental issue" EXACT layperson []
xref: SNOMEDCT_US:169957005
xref: SNOMEDCT_US:33552005
xref: UMLS:C1306893
is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord
created_by: doelkens
creation_date: 2011-06-07T11:03:03Z

[Term]
id: HP:0100768
name: Choriocarcinoma
def: "A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors." [HPO:sdoelken]
xref: MSH:D002822
xref: SNOMEDCT_US:188188009
xref: SNOMEDCT_US:44769000
xref: UMLS:C0008497
is_a: HP:0031502 ! Trophoblastic tumor
is_a: HP:0100767 ! Abnormality of the placenta
created_by: doelkens
creation_date: 2011-06-07T11:05:40Z

[Term]
id: HP:0100769
name: Synovitis
xref: MSH:D013585
xref: SNOMEDCT_US:416209007
xref: UMLS:C0039103
is_a: HP:0005262 ! Abnormality of the synovia
created_by: doelkens
creation_date: 2011-06-07T11:45:59Z

[Term]
id: HP:0100770
name: Hyperperistalsis
def: "Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine." [HPO:probinson]
synonym: "Stomach churning" BROAD layperson [http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html, ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:271838002
xref: SNOMEDCT_US:80306002
xref: UMLS:C0232474
xref: UMLS:C0857071
is_a: HP:0030914 ! Abnormal peristalsis
created_by: doelkens
creation_date: 2011-06-07T11:53:08Z

[Term]
id: HP:0100771
name: Hypoperistalsis
def: "Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract." [HPO:probinson]
synonym: "Intestinal hypoperistalsis" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:77853002
xref: UMLS:C0232475
xref: UMLS:C4020700
is_a: HP:0030914 ! Abnormal peristalsis
created_by: doelkens
creation_date: 2011-06-07T11:53:08Z

[Term]
id: HP:0100773
name: Cartilage destruction
synonym: "Cartilage destruction" EXACT layperson []
xref: UMLS:C4021973
is_a: HP:0002763 ! Abnormal cartilage morphology
created_by: doelkens
creation_date: 2011-06-07T05:13:50Z

[Term]
id: HP:0100774
name: Hyperostosis
def: "Excessive growth or abnormal thickening of bone tissue." [HPO:probinson]
comment: Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density).
synonym: "Bone Hypertrophy" EXACT []
synonym: "Bone overgrowth" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D015576
xref: SNOMEDCT_US:13814009
xref: SNOMEDCT_US:203514008
xref: UMLS:C0020492
is_a: HP:0011842 ! Abnormality of skeletal morphology
created_by: doelkens
creation_date: 2011-06-07T05:17:19Z

[Term]
id: HP:0100775
name: Dural ectasia
def: "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken]
comment: Dural ectasia is one of the major manifestations of Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. It is also a cause of posterior vertebral scalloping present in radiographs in patients who are diagnosed with Neurofibromatosis. Dural ectasia may also manifest in Ehlers-Danlos Syndrome, cauda equina syndrome and in ankylosing spondylitis.
xref: UMLS:C1851712
is_a: HP:0010303 ! Abnormal spinal meningeal morphology
created_by: doelkens
creation_date: 2011-06-07T05:22:13Z

[Term]
id: HP:0100776
name: Recurrent pharyngitis
def: "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson]
synonym: "Pharyngitis, recurrent" EXACT []
synonym: "Recurrent sore throat" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C0747556
is_a: HP:0002788 ! Recurrent upper respiratory tract infections
is_a: HP:0025439 ! Pharyngitis
created_by: doelkens
creation_date: 2011-06-07T05:28:27Z

[Term]
id: HP:0100777
name: Exostoses
def: "An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson]
synonym: "Formation of new noncancerous bone on top of existing bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: MSH:D005096
xref: SNOMEDCT_US:416189003
xref: SNOMEDCT_US:80400009
xref: UMLS:C1442903
is_a: HP:0010622 ! Neoplasm of the skeletal system
created_by: doelkens
creation_date: 2011-06-07T05:34:49Z

[Term]
id: HP:0100778
name: Cryoglobulinemia
def: "Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius." [HPO:probinson]
synonym: "Cryoprecipitable immune complexes" EXACT []
xref: MSH:D003449
xref: SNOMEDCT_US:30911005
xref: UMLS:C0010403
is_a: HP:0005368 ! Abnormality of humoral immunity
created_by: doelkens
creation_date: 2011-06-07T05:42:38Z

[Term]
id: HP:0100779
name: Urogenital sinus anomaly
def: "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators]
xref: UMLS:C4021972
is_a: HP:0000142 ! Abnormal vagina morphology
is_a: HP:0000795 ! Abnormality of the urethra
created_by: doelkens
creation_date: 2011-06-07T05:45:10Z

[Term]
id: HP:0100780
name: Conjunctival hamartoma
def: "A hamartoma (disordered proliferation of mature tissues) of the conjunctiva." [HPO:probinson]
xref: UMLS:C4021849
is_a: HP:0000502 ! Abnormal conjunctiva morphology
is_a: HP:0010568 ! Hamartoma of the eye
created_by: doelkens
creation_date: 2011-06-07T05:50:21Z

[Term]
id: HP:0100781
name: Abnormality of the sacroiliac joint
def: "An anomaly of the sacroiliac joint." [HPO:probinson]
xref: UMLS:C0262621
is_a: HP:0001367 ! Abnormal joint morphology
is_a: HP:0002867 ! Abnormality of the ilium
is_a: HP:0005107 ! Abnormal sacrum morphology
created_by: doelkens
creation_date: 2011-06-07T05:52:24Z

[Term]
id: HP:0100783
name: Breast aplasia
def: "Failure to develop and congenital absence of the breast." []
synonym: "Absent breast" EXACT layperson []
synonym: "Congenital absence of breast" EXACT []
synonym: "Mammary gland aplasia" EXACT []
xref: SNOMEDCT_US:111324004
xref: UMLS:C0266009
is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts
created_by: doelkens
creation_date: 2011-06-07T06:02:34Z

[Term]
id: HP:0100784
name: Peripheral arteriovenous fistula
xref: UMLS:C4021971
is_a: HP:0004947 ! Arteriovenous fistula
created_by: doelkens
creation_date: 2011-06-07T06:03:29Z

[Term]
id: HP:0100785
name: Insomnia
synonym: "Difficulty staying or falling asleep" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Fragmented sleep" NARROW layperson []
xref: MSH:D007319
xref: SNOMEDCT_US:193462001
xref: UMLS:C0917801
is_a: HP:0002360 ! Sleep disturbance
created_by: doelkens
creation_date: 2011-06-07T06:14:22Z

[Term]
id: HP:0100786
name: Hypersomnia
synonym: "Excessive sleepiness" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006970
xref: SNOMEDCT_US:77692006
xref: UMLS:C0917799
is_a: HP:0002360 ! Sleep disturbance
created_by: doelkens
creation_date: 2011-06-07T06:15:07Z

[Term]
id: HP:0100787
name: Prostate neoplasm
xref: MSH:D011471
xref: SNOMEDCT_US:126906006
xref: UMLS:C0033578
is_a: HP:0008775 ! Abnormality of the prostate
created_by: doelkens
creation_date: 2011-06-07T06:29:49Z

[Term]
id: HP:0100788
name: Fused lips
def: "Lack of separation of the upper and lower lips." [HPO:probinson]
subset: hposlim_core
synonym: "Adhesion of upper and lower lips" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Fused lips" EXACT layperson []
synonym: "Fusion of upper and lower lips" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021970
is_a: HP:0000159 ! Abnormal lip morphology
created_by: doelkens
creation_date: 2011-06-08T02:16:16Z

[Term]
id: HP:0100789
name: Torus palatinus
def: "A bony protrusion present on the midline of the hard palate." [HPO:sdoelken]
subset: hposlim_core
synonym: "Maxillary torus" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Palatal tori" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Palatal torus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Palate exostoses" EXACT []
synonym: "Prominent midpalatal ridge" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:244683008
xref: SNOMEDCT_US:46752004
xref: SNOMEDCT_US:697945009
xref: UMLS:C0266981
xref: UMLS:C0447996
xref: UMLS:C1840236
is_a: HP:0100737 ! Abnormal hard palate morphology
created_by: doelkens
creation_date: 2011-06-08T02:28:48Z

[Term]
id: HP:0100790
name: Hernia
synonym: "Hernias" RELATED [HPO:skoehler]
xref: MSH:D006547
xref: SNOMEDCT_US:414403008
xref: SNOMEDCT_US:52515009
xref: UMLS:C0019270
is_a: HP:0003549 ! Abnormality of connective tissue
created_by: doelkens
creation_date: 2011-06-08T02:33:37Z

[Term]
id: HP:0100792
name: Acantholysis
def: "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes." [HPO:sdoelken]
comment: Acantolysis results in a positive Nikolsky's sign in which slight rubbing of the skin results in exfoliation of the outermost layer.
synonym: "Nikolsky's sign" RELATED []
xref: MSH:D000051
xref: SNOMEDCT_US:43327007
xref: SNOMEDCT_US:441837004
xref: UMLS:C0000887
xref: UMLS:C0241128
is_a: HP:0011124 ! Abnormality of epidermal morphology
created_by: doelkens
creation_date: 2011-06-08T03:22:24Z

[Term]
id: HP:0100795
name: Abnormally straight spine
def: "The absence of the normal curvature of the vertebral column." [HPO:sdoelken]
subset: hposlim_core
synonym: "Abnormally straight spine" EXACT layperson []
xref: UMLS:C4021969
is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column
created_by: doelkens
creation_date: 2011-06-08T03:52:57Z

[Term]
id: HP:0100796
name: Orchitis
def: "Testicular inflammation." [HPO:sdoelken]
synonym: "Inflammation of testicles" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D009920
xref: SNOMEDCT_US:274718005
xref: UMLS:C0029191
is_a: HP:0000035 ! Abnormal testis morphology
created_by: doelkens
creation_date: 2011-06-08T04:18:06Z

[Term]
id: HP:0100797
name: Toenail dysplasia
def: "An abnormality of the development of the toenails." [HPO:probinson]
synonym: "Abnormal toenail development" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Dysplastic toenails" EXACT []
xref: UMLS:C3276623
is_a: HP:0002164 ! Nail dysplasia
is_a: HP:0008388 ! Abnormal toenail morphology
created_by: doelkens
creation_date: 2011-06-08T04:23:37Z

[Term]
id: HP:0100798
name: Fingernail dysplasia
def: "An abnormality of the development of the fingernails." [HPO:probinson]
comment: If possible, a more precise term should be chosen for annotation.
synonym: "Abnormal fingernail development" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Dysplastic fingernails" EXACT []
xref: UMLS:C4020952
is_a: HP:0001231 ! Abnormal fingernail morphology
is_a: HP:0002164 ! Nail dysplasia
created_by: doelkens
creation_date: 2011-06-08T04:23:53Z

[Term]
id: HP:0100799
name: Neoplasm of the middle ear
def: "A tumor (abnormal growth of tissue) of the middle ear." [HPO:probinson]
synonym: "Middle ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Neoplasia of the middle ear" EXACT []
xref: NCIT:C3262
xref: SNOMEDCT_US:127006003
xref: UMLS:C0345617
is_a: HP:0000370 ! Abnormality of the middle ear
is_a: HP:0012780 ! Neoplasm of the ear
created_by: doelkens
creation_date: 2011-06-08T04:25:43Z

[Term]
id: HP:0100800
name: Aplasia/Hypoplasia of the pancreas
def: "A congenital underdevelopment (aplasia or hypoplasia) of the pancreas." [HPO:sdoelken]
synonym: "Absent/small pancreas" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021968
is_a: HP:0012094 ! Abnormal pancreas size
created_by: doelkens
creation_date: 2011-06-09T11:45:58Z

[Term]
id: HP:0100801
name: Pancreatic aplasia
def: "Aplasia of the pancreas." [HPO:sdoelken]
synonym: "Absent pancreas" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021967
is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas
created_by: doelkens
creation_date: 2011-06-09T11:46:59Z

[Term]
id: HP:0100802
name: Malposition of the stomach
def: "Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation." [HPO:probinson, pmid:16465538]
synonym: "Abnormal stomach location" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Gastric ectopia" EXACT []
synonym: "Gastric malposition" EXACT []
xref: UMLS:C1402983
is_a: HP:0002577 ! Abnormality of the stomach
created_by: doelkens
creation_date: 2011-06-09T11:52:49Z

[Term]
id: HP:0100803
name: Abnormality of the periungual region
def: "An abnormality of the region around the nails of the fingers or toes." [HPO:probinson]
xref: UMLS:C4021966
is_a: HP:0001597 ! Abnormality of the nail
is_a: HP:0011356 ! Regional abnormality of skin
created_by: doelkens
creation_date: 2011-06-09T11:59:15Z

[Term]
id: HP:0100804
name: Ungual fibroma
def: "Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate)." [HPO:probinson, pmid:18815399]
comment: Ungual fibromas are characteristic of tuberous sclerosis.
synonym: "Koenen tumor" EXACT []
synonym: "Koenen's tumor" EXACT []
synonym: "Parungual fibromas" EXACT []
synonym: "Periungual fibroma" EXACT []
xref: SNOMEDCT_US:264561009
xref: UMLS:C0442880
is_a: HP:0010614 ! Fibroma
is_a: HP:0100803 ! Abnormality of the periungual region
is_a: HP:0100826 ! Neoplasm of the nail
created_by: doelkens
creation_date: 2011-06-09T11:59:55Z

[Term]
id: HP:0100805
name: obsolete Precocious menopause
is_obsolete: true

[Term]
id: HP:0100806
name: Sepsis
def: "Systemic inflammatory response to infection." [HPO:probinson]
synonym: "Infection in blood stream" EXACT layperson [ORCID:0000-0002-6548-5200]
xref: MSH:D018805
xref: UMLS:C0036690
is_a: HP:0010978 ! Abnormality of immune system physiology
created_by: doelkens
creation_date: 2011-06-09T01:05:51Z

[Term]
id: HP:0100807
name: Long fingers
alt_id: HP:0006010
def: "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433]
synonym: "Long fingers" EXACT layperson []
xref: UMLS:C1858091
is_a: HP:0001167 ! Abnormality of finger
created_by: doelkens
creation_date: 2011-06-09T01:13:15Z

[Term]
id: HP:0100808
name: Gastric diverticulum
def: "An outpouching of the gastric wall." [HPO:probinson, pmid:22257431]
comment: Gastric diverticulum may be asymptomatic or may present with a vague sensation of fullness or discomfort in the upper abdomen, or with acute upper gastrointestinal bleed or perforation.
synonym: "Stomach diverticulum" EXACT []
xref: MSH:D013273
xref: SNOMEDCT_US:75198005
xref: UMLS:C0038355
is_a: HP:0002577 ! Abnormality of the stomach
created_by: doelkens
creation_date: 2011-06-09T01:43:31Z

[Term]
id: HP:0100809
name: Scalp tenderness
def: "Pain or discomfort of the scalp elicited by palpation." [HPO:probinson]
synonym: "Allodynia of scalp" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Scalp hypersensitivity" EXACT []
synonym: "Scalp pain" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Scalp tenderness" EXACT layperson []
xref: MEDDRA:10039521 "Scalp tenderness"
xref: SNOMEDCT_US:75851004
xref: UMLS:C0151206
xref: UMLS:C0240940
xref: UMLS:C4073183
is_a: HP:0001965 ! Abnormality of the scalp
created_by: doelkens
creation_date: 2011-06-09T01:46:12Z

[Term]
id: HP:0100810
name: Pointed helix
synonym: "Elfin ear" EXACT []
synonym: "Pointed ear" BROAD layperson [ORCID:0000-0001-5208-3432]
synonym: "Spock's ear" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4020951
is_a: HP:0011039 ! Abnormality of the helix
created_by: doelkens
creation_date: 2011-06-09T01:51:46Z

[Term]
id: HP:0100811
name: Aplasia/Hypoplasia of the colon
def: "Congenital absence or underdevelopment of the colon." [HPO:probinson]
synonym: "Absent/small colon" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Absent/underdeveloped colon" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021964
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0005245 ! Intestinal hypoplasia
created_by: doelkens
creation_date: 2011-06-09T01:54:57Z

[Term]
id: HP:0100812
name: Halitosis
def: "Noticeably unpleasant odors exhaled in breathing." [HPO:sdoelken]
subset: hposlim_core
synonym: "Bad breath" EXACT layperson []
synonym: "Foetor ex ore" EXACT []
xref: MEDDRA:10006326 "Breath odour"
xref: MSH:D006209
xref: SNOMEDCT_US:79879001
xref: UMLS:C0018520
is_a: HP:0025142 ! Constitutional symptom
is_a: HP:0031815 ! Abnormal oral physiology
created_by: doelkens
creation_date: 2011-06-09T02:00:42Z

[Term]
id: HP:0100813
name: Testicular torsion
def: "Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain." [HPO:sdoelken]
comment: Many of the symptoms of testicular torsion are similar to the infection epididymitis.
synonym: "Spermatic cord torsion" EXACT []
xref: MSH:D013086
xref: SNOMEDCT_US:49198006
xref: SNOMEDCT_US:81996005
xref: UMLS:C0037856
is_a: HP:0000035 ! Abnormal testis morphology
created_by: doelkens
creation_date: 2011-06-09T02:03:12Z

[Term]
id: HP:0100814
name: Blue nevus
synonym: "Congenital dermal melanocytosis" RELATED []
synonym: "Mongolian spot" EXACT layperson []
xref: MSH:D049328
xref: SNOMEDCT_US:40467008
xref: UMLS:C0265985
xref: UMLS:C4020699
is_a: HP:0003764 ! Nevus
created_by: doelkens
creation_date: 2011-06-09T02:15:28Z

[Term]
id: HP:0100816
name: Lip hyperpigmentation
synonym: "Darkening of skin of the lips" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperpigmentation of lip vermillion" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased pigmentation on the lips" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021963
is_a: HP:0007400 ! Irregular hyperpigmentation
is_a: HP:0032453 ! Abnormal lip pigmentation
created_by: doelkens
creation_date: 2011-06-09T02:18:39Z

[Term]
id: HP:0100817
name: Renovascular hypertension
alt_id: HP:0008741
def: "The presence of hypertension related to stenosis of the renal artery." [HPO:probinson]
comment: Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system.
synonym: "Hypertension due to renal artery hyperplasia" EXACT []
xref: MSH:D006978
xref: SNOMEDCT_US:123799005
xref: UMLS:C0020545
is_a: HP:0000822 ! Hypertension
is_a: HP:0012211 ! Abnormal renal physiology
created_by: doelkens
creation_date: 2011-06-09T04:48:35Z

[Term]
id: HP:0100818
name: Long thorax
def: "Increased inferior to superior extent of the thorax." [HPO:probinson]
subset: hposlim_core
synonym: "Long rib cage" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: SNOMEDCT_US:298710001
xref: UMLS:C0575484
is_a: HP:0100625 ! Enlarged thorax
created_by: doelkens
creation_date: 2011-06-09T04:51:15Z

[Term]
id: HP:0100819
name: Intestinal fistula
def: "An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract." [HPO:probinson]
subset: hposlim_core
xref: MEDDRA:10022647 "Intestinal fistula"
xref: MSH:D007412
xref: SNOMEDCT_US:38851006
xref: UMLS:C0021833
is_a: HP:0002242 ! Abnormal intestine morphology
created_by: doelkens
creation_date: 2011-06-09T04:57:15Z

[Term]
id: HP:0100820
name: Glomerulopathy
def: "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken]
synonym: "Diseased glomeruli" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:197679002
xref: UMLS:C0268731
is_a: HP:0000095 ! Abnormality of renal glomerulus morphology
created_by: doelkens
creation_date: 2011-06-09T04:59:55Z

[Term]
id: HP:0100821
name: Urethrocele
def: "The prolapse of the female urethra into the vagina." [HPO:sdoelken]
xref: ICD-9:618.03
xref: SNOMEDCT_US:12068006
xref: UMLS:C0238502
is_a: HP:0000795 ! Abnormality of the urethra
is_a: HP:0100672 ! Vaginal hernia
created_by: doelkens
creation_date: 2011-06-09T05:06:51Z

[Term]
id: HP:0100822
name: Rectocele
def: "A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy." [HPO:sdoelken]
xref: ICD-9:618.04
xref: MSH:D020047
xref: SNOMEDCT_US:447072005
xref: SNOMEDCT_US:62730001
xref: UMLS:C0149771
is_a: HP:0002035 ! Rectal prolapse
is_a: HP:0100672 ! Vaginal hernia
created_by: doelkens
creation_date: 2011-06-09T05:07:41Z

[Term]
id: HP:0100823
name: Genital hernia
xref: UMLS:C4021962
is_a: HP:0100790 ! Hernia
created_by: doelkens
creation_date: 2011-06-09T05:11:49Z

[Term]
id: HP:0100825
name: Cheilitis
def: "Inflammation of the lip." [HPO:sdoelken]
comment: It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma.
subset: hposlim_core
synonym: "Inflammation of the lips" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Red and sore lips" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D002613
xref: SNOMEDCT_US:7847004
xref: UMLS:C0007971
xref: UMLS:C4280288
is_a: HP:0000159 ! Abnormal lip morphology
created_by: doelkens
creation_date: 2011-06-09T05:18:41Z

[Term]
id: HP:0100826
name: Neoplasm of the nail
def: "A tumor (abnormal growth of tissue) of the nail." [HPO:probinson]
synonym: "Nail tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: NCIT:C3262
xref: UMLS:C4021961
is_a: HP:0001597 ! Abnormality of the nail
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: doelkens
creation_date: 2011-06-09T05:31:21Z

[Term]
id: HP:0100827
name: Lymphocytosis
alt_id: HP:0012141
def: "Increase in the number or proportion of lymphocytes in the blood." [HPO:sdoelken]
synonym: "High lymphocyte count" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D008218
xref: SNOMEDCT_US:67023009
xref: UMLS:C0024282
is_a: HP:0001974 ! Leukocytosis
is_a: HP:0040088 ! Abnormal lymphocyte count
created_by: doelkens
creation_date: 2011-06-09T05:32:57Z

[Term]
id: HP:0100828
name: Increased T cell count
def: "An abnormal increase in the total number of T cells detected in the blood." []
synonym: "Increase in T cell count" EXACT []
synonym: "Increase in T cell number" EXACT []
xref: UMLS:C4021960
is_a: HP:0011839 ! Abnormal T cell count
is_a: HP:0100827 ! Lymphocytosis
created_by: doelkens
creation_date: 2011-06-09T05:34:46Z

[Term]
id: HP:0100829
name: Galactorrhea
def: "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing." [HPO:sdoelken]
synonym: "Galactorrhoea" EXACT []
synonym: "Spontaneous milk flow from breast" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D005687
xref: UMLS:C3665358
is_a: HP:0031094 ! Abnormal breast physiology
created_by: doelkens
creation_date: 2011-06-09T05:39:15Z

[Term]
id: HP:0100830
name: Round ear
synonym: "Round ear" EXACT layperson []
xref: UMLS:C4021959
is_a: HP:0000377 ! Abnormality of the pinna
created_by: doelkens
creation_date: 2011-06-09T05:41:29Z

[Term]
id: HP:0100831
name: Abnormality of vitamin K metabolism
def: "Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade." [HPO:probinson]
synonym: "Abnormality of vitamin K metabolism" EXACT layperson []
xref: UMLS:C4021958
is_a: HP:0100508 ! Abnormality of vitamin metabolism
created_by: doelkens
creation_date: 2011-06-09T05:46:50Z

[Term]
id: HP:0100832
name: Vitreous floaters
def: "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent." [HPO:sdoelken]
comment: Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil.
synonym: "Eye floaters" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Flitting flies" EXACT []
synonym: "Mouches volantes" EXACT []
synonym: "Myodeopsia" EXACT []
synonym: "Myodesopsia" EXACT []
synonym: "Spots in front of eyes" EXACT layperson []
synonym: "Vitreous condensations" EXACT []
synonym: "Vitreous debris" EXACT []
synonym: "Vitreous opacities" EXACT []
synonym: "Vitreous veils" EXACT []
xref: SNOMEDCT_US:15013002
xref: SNOMEDCT_US:162278001
xref: SNOMEDCT_US:420999000
xref: UMLS:C0016242
xref: UMLS:C1720491
is_a: HP:0000504 ! Abnormality of vision
is_a: HP:0004327 ! Abnormal vitreous humor morphology
created_by: doelkens
creation_date: 2011-06-09T05:58:09Z

[Term]
id: HP:0100833
name: Neoplasm of the small intestine
def: "The presence of a neoplasm of the small intestine." [HPO:probinson]
comment: An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas.
synonym: "Small intestine tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: NCIT:C3262
xref: SNOMEDCT_US:126832004
xref: UMLS:C0345832
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
created_by: doelkens
creation_date: 2011-06-09T06:03:02Z

[Term]
id: HP:0100834
name: Neoplasm of the large intestine
def: "The presence of a neoplasm of the large intestine." [HPO:probinson]
synonym: "Large intestine tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D015179
xref: NCIT:C3262
xref: SNOMEDCT_US:126837005
xref: UMLS:C0009404
is_a: HP:0002250 ! Abnormal large intestine morphology
is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract
created_by: doelkens
creation_date: 2011-06-09T06:03:45Z

[Term]
id: HP:0100835
name: Benign neoplasm of the central nervous system
synonym: "Benign neoplasm of the CNS" EXACT HP:0045077 []
xref: SNOMEDCT_US:92048008
xref: UMLS:C0347509
is_a: HP:0100006 ! Neoplasm of the central nervous system
created_by: doelkens
creation_date: 2011-06-09T06:08:47Z

[Term]
id: HP:0100836
name: Malignant neoplasm of the central nervous system
def: "A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns." [HPO:probinson]
synonym: "Malignant neoplasm of the CNS" EXACT HP:0045077 []
xref: SNOMEDCT_US:372062007
xref: UMLS:C0348374
is_a: HP:0100006 ! Neoplasm of the central nervous system
created_by: doelkens
creation_date: 2011-06-09T06:09:10Z

[Term]
id: HP:0100837
name: Atrophodermia vermiculata
def: "Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions." [HPO:probinson]
comment: The onset of atrophodermia vermiculata is usually between the ages of 5 and 12 years.
synonym: "Vermiculata atrophoderma" EXACT []
xref: MSH:C537412
xref: SNOMEDCT_US:400059005
xref: SNOMEDCT_US:400126005
xref: UMLS:C0263428
is_a: HP:0000987 ! Atypical scarring of skin
is_a: HP:0011799 ! Abnormality of facial soft tissue
created_by: doelkens
creation_date: 2011-06-09T06:20:04Z

[Term]
id: HP:0100838
name: Recurrent cutaneous abscess formation
def: "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses." [HPO:probinson]
xref: UMLS:C4021957
is_a: HP:0002722 ! Recurrent abscess formation
is_a: HP:0005406 ! Recurrent bacterial skin infections
is_a: HP:0031292 ! Cutaneous abscess
created_by: doelkens
creation_date: 2011-06-09T06:35:07Z

[Term]
id: HP:0100839
name: Hepatic agenesis
def: "Absence of the liver owing to a failure of the liver to develop." [HPO:probinson]
synonym: "Failed liver development" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Liver agenesis" EXACT []
xref: SNOMEDCT_US:3650004
xref: UMLS:C0266258
is_a: HP:0410042 ! Abnormal liver morphology
created_by: doelkens
creation_date: 2011-06-09T06:37:25Z

[Term]
id: HP:0100840
name: Aplasia/Hypoplasia of the eyebrow
def: "Absence or underdevelopment of the eyebrow." [HPO:probinson]
synonym: "Absence of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of eyebrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypotrophic eyebrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Lack of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Sparse or absent eyebrows" RELATED layperson [HPO:skoehler]
synonym: "Sparse to absent eyebrows" RELATED layperson [HPO:skoehler]
synonym: "Sparse/absent eyebrows" RELATED layperson [HPO:skoehler]
xref: UMLS:C1848765
xref: UMLS:C2266639
xref: UMLS:C3551430
xref: UMLS:C4021956
is_a: HP:0000534 ! Abnormal eyebrow morphology
created_by: doelkens
creation_date: 2011-06-09T06:40:51Z

[Term]
id: HP:0100841
name: Microgastria
def: "A developmental anomaly wtih a small tubular or saccular midline stomach." [pmid:10067744]
comment: Patients with microgastria usually have poor growth, inadequate food consumption, or a complication of the small gastric cavity and gastroesophageal reflux, including frequent vomiting or pneumonia.
xref: SNOMEDCT_US:83714006
xref: UMLS:C0266150
is_a: HP:0002577 ! Abnormality of the stomach
created_by: doelkens
creation_date: 2011-06-09T06:42:10Z

[Term]
id: HP:0100842
name: Septo-optic dysplasia
def: "Underdevelopment of the optic nerve and absence of the septum pellucidum." [HPO:sdoelken]
synonym: "De Morsier syndrome" EXACT []
xref: MSH:D025962
xref: SNOMEDCT_US:7611002
xref: UMLS:C0338503
is_a: HP:0000609 ! Optic nerve hypoplasia
is_a: HP:0001331 ! Absent septum pellucidum
created_by: doelkens
creation_date: 2011-06-09T06:44:12Z

[Term]
id: HP:0100843
name: obsolete Glioblastoma
is_obsolete: true
replaced_by: HP:0012174
creation_date: 2011-06-09T06:47:23Z

[Term]
id: HP:0100844
name: Pancreatic fistula
xref: MSH:D010185
xref: SNOMEDCT_US:25803005
xref: UMLS:C0030290
is_a: HP:0012090 ! Abnormal pancreas morphology
created_by: doelkens
creation_date: 2011-06-09T06:50:10Z

[Term]
id: HP:0100845
name: Anaphylactic shock
def: "An acute hypersensitivity reaction due to exposure to a previously encountered antigen." [HPO:probinson]
comment: Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated.
synonym: "Anaphylaxis" EXACT layperson []
xref: MSH:D000707
xref: SNOMEDCT_US:39579001
xref: UMLS:C0002792
is_a: HP:0100326 ! Immunologic hypersensitivity
created_by: doelkens
creation_date: 2011-06-09T06:54:40Z

[Term]
id: HP:0100847
name: Palmoplantar pustulosis
def: "A chronic, relapsing, pustular eruption that is localized to the palms and soles." [HPO:probinson, pmid:23209116]
comment: There are recurrent and painful eruptions of pustules on the palms and the soles of feet that may resolve with red-brown discoloration.
synonym: "Palmoplantar pustules" EXACT []
synonym: "Pustulosis of palms and soles" EXACT []
synonym: "Pustulosis palmaris et plantaris" EXACT []
xref: MEDDRA:10050185 "Palmoplantar pustulosis"
xref: MSH:D011565
xref: SNOMEDCT_US:27520001
xref: UMLS:C0030246
is_a: HP:0011356 ! Regional abnormality of skin
is_a: HP:0200039 ! Pustule
created_by: doelkens
creation_date: 2011-06-09T07:07:06Z

[Term]
id: HP:0100848
name: Neoplasm of the male external genitalia
def: "A tumor (abnormal growth of tissue) of the male external genitalia." [HPO:sdoelken]
synonym: "Neoplasia of the male external genitalia" EXACT []
xref: NCIT:C3262
xref: UMLS:C4020950
is_a: HP:0000032 ! Abnormality of male external genitalia
is_a: HP:0010787 ! Genital neoplasm
created_by: doelkens
creation_date: 2011-06-17T01:33:06Z

[Term]
id: HP:0100849
name: Neoplasm of the scrotum
def: "A tumor (abnormal growth of tissue) of the scrotum." [HPO:probinson]
synonym: "Neoplasia of the scrotum" EXACT []
synonym: "Scrotum tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: NCIT:C3262
xref: SNOMEDCT_US:126905005
xref: UMLS:C0341790
is_a: HP:0000045 ! Abnormality of the scrotum
is_a: HP:0100848 ! Neoplasm of the male external genitalia
created_by: doelkens
creation_date: 2011-06-17T01:37:49Z

[Term]
id: HP:0100850
name: Neoplasm of the penis
def: "A tumor (abnormal growth of tissue) of the penis." [HPO:probinson]
synonym: "Neoplasia of the penis" EXACT []
synonym: "Penis tumor" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D010412
xref: NCIT:C3262
xref: SNOMEDCT_US:126896003
xref: UMLS:C0030849
is_a: HP:0000036 ! Abnormality of the penis
is_a: HP:0100848 ! Neoplasm of the male external genitalia
created_by: doelkens
creation_date: 2011-06-17T01:38:16Z

[Term]
id: HP:0100851
name: Abnormal emotion/affect behavior
def: "An abnormality of emotional behaviour." [HPO:sdoelken]
synonym: "Abnormal emotion/affect behaviour" EXACT []
xref: UMLS:C4020949
is_a: HP:0000708 ! Behavioral abnormality
created_by: doelkens
creation_date: 2011-06-23T11:07:13Z

[Term]
id: HP:0100852
name: Abnormal fear/anxiety-related behavior
alt_id: HP:0001296
def: "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response." [HPO:sdoelken]
xref: UMLS:C4018849
is_a: HP:0031466 ! Impairment in personality functioning
created_by: doelkens
creation_date: 2011-06-23T11:13:16Z

[Term]
id: HP:0100853
name: Hypoplastic areola
alt_id: HP:0006609
def: "Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplastic areolae" EXACT []
xref: UMLS:C3276032
is_a: HP:0032314 ! Abnormal areolar morphology
created_by: doelkens
creation_date: 2011-11-30T09:41:44Z

[Term]
id: HP:0100854
name: Aplasia of the musculature
def: "Absence of the musculature." [HPO:sdoelken]
synonym: "Absent musculature" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021955
is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature
created_by: doelkens
creation_date: 2011-11-30T09:51:08Z

[Term]
id: HP:0100855
name: Triceps hypoplasia
def: "Hypoplasia of the triceps muscle." [HPO:sdoelken]
synonym: "Small triceps" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Underdeveloped triceps" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021954
is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps
is_a: HP:0030239 ! Hypoplasia of the upper arm musculature
created_by: doelkens
creation_date: 2011-11-30T09:56:14Z

[Term]
id: HP:0100856
name: Poorly ossified vertebrae
def: "Decreased ossification of the vertebral bodies." [HPO:sdoelken]
xref: UMLS:C4021953
is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies
created_by: doelkens
creation_date: 2011-11-30T09:59:32Z

[Term]
id: HP:0100857
name: Flat sella turcica
def: "An abnormally flat sella turcica." [HPO:sdoelken]
xref: UMLS:C4021952
is_a: HP:0002681 ! Deformed sella turcica
created_by: doelkens
creation_date: 2011-11-30T10:02:07Z

[Term]
id: HP:0100858
name: Dilatation of celiac artery
def: "Abnormal outpouching or sac-like dilatation in the wall of the celiac artery." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Celiac artery aneurysm" NARROW []
xref: SNOMEDCT_US:111290000
xref: UMLS:C0264969
is_a: HP:0002636 ! Dilatation of an abdominal artery
created_by: doelkens
creation_date: 2011-11-30T10:07:35Z

[Term]
id: HP:0100859
name: Dilatation of superior mesenteric artery
def: "Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery ." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Superior mesenteric artery aneurysm" NARROW []
xref: SNOMEDCT_US:65498003
xref: UMLS:C0264974
is_a: HP:0011934 ! Dilatation of mesenteric artery
created_by: doelkens
creation_date: 2011-11-30T10:07:35Z

[Term]
id: HP:0100860
name: Dilatation of Inferior mesenteric artery
def: "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery ." [HPO:probinson]
comment: Aneurysm is considered a severe form of dilatation.
synonym: "Inferior mesenteric artery aneurysm" NARROW []
xref: SNOMEDCT_US:195289005
xref: UMLS:C0340625
is_a: HP:0011934 ! Dilatation of mesenteric artery
created_by: doelkens
creation_date: 2011-11-30T10:07:35Z

[Term]
id: HP:0100861
name: Sclerotic vertebral body
alt_id: HP:0004578
def: "Increase in bone density of the vertebral body." [HPO:probinson]
synonym: "Vertebral body sclerosis" EXACT []
xref: UMLS:C4021951
is_a: HP:0003468 ! Abnormal vertebral morphology
created_by: doelkens
creation_date: 2011-11-30T10:12:34Z

[Term]
id: HP:0100862
name: Aplasia of the femoral head
synonym: "Absent femoral head" EXACT [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021950
is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck
created_by: doelkens
creation_date: 2011-11-30T10:47:46Z

[Term]
id: HP:0100863
name: Aplasia of the femoral neck
synonym: "Absent neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021949
is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck
created_by: doelkens
creation_date: 2011-11-30T10:48:08Z

[Term]
id: HP:0100864
name: Short femoral neck
alt_id: HP:0003032
alt_id: HP:0008779
alt_id: HP:0008793
def: "An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson]
subset: hposlim_core
synonym: "Hypoplasia of the femoral neck" EXACT []
synonym: "Hypoplastic femoral neck" EXACT []
synonym: "Short femoral necks" EXACT []
synonym: "Short neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1836184
is_a: HP:0003367 ! Abnormality of the femoral neck
is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck
created_by: doelkens
creation_date: 2011-11-30T10:48:34Z

[Term]
id: HP:0100865
name: Broad ischia
alt_id: HP:0008814
def: "Increased width of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson]
xref: UMLS:C1836868
is_a: HP:0003174 ! Abnormality of the ischium
created_by: doelkens
creation_date: 2011-11-30T11:09:10Z

[Term]
id: HP:0100866
name: Short iliac bones
synonym: "Short pelvis bones" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C1849063
is_a: HP:0000946 ! Hypoplastic ilia
created_by: doelkens
creation_date: 2011-11-30T11:11:24Z

[Term]
id: HP:0100867
name: Duodenal stenosis
alt_id: HP:0005205
alt_id: HP:0010449
def: "The narrowing or partial blockage of a portion of the duodenum." [HPO:sdoelken]
subset: hposlim_core
synonym: "Duodenal stenosis/atresia" EXACT []
xref: MEDDRA:10050094 "Duodenal stenosis"
xref: MSH:C535720
xref: SNOMEDCT_US:73120006
xref: UMLS:C0238093
xref: UMLS:C1860791
is_a: HP:0002246 ! Abnormality of the duodenum
is_a: HP:0012848 ! Small intestinal stenosis
created_by: doelkens
creation_date: 2011-11-30T11:13:27Z

[Term]
id: HP:0100869
name: Palmar telangiectasia
alt_id: HP:0007399
def: "The presence of telangiectases on the skin of palm of hand." [HPO:probinson]
synonym: "Telangiectases of palms and soles" EXACT []
synonym: "Teleangiectases of palms" EXACT []
xref: UMLS:C4020948
is_a: HP:0040211 ! Abnormality of the skin of the palm
is_a: HP:0100585 ! Telangiectasia of the skin
created_by: doelkens
creation_date: 2011-11-30T11:19:45Z

[Term]
id: HP:0100870
name: Plantar telangiectasia
def: "Telangiectases (small dilated blood vessels) located on the skin of sole of foot." [HPO:probinson]
synonym: "Plantar teleangiectasia" EXACT []
synonym: "Telangiectases of soles" EXACT []
synonym: "Teleangiectases of soles" EXACT []
xref: UMLS:C4020947
is_a: HP:0100585 ! Telangiectasia of the skin
is_a: HP:0100872 ! Abnormality of the plantar skin of foot
created_by: doelkens
creation_date: 2011-11-30T11:19:59Z

[Term]
id: HP:0100871
name: Abnormality of the palm
def: "An abnormality of the palm, that is, of the front of the hand." [HPO:probinson]
synonym: "Abnormality of the palm" EXACT layperson []
xref: UMLS:C4021948
is_a: HP:0001155 ! Abnormality of the hand
created_by: doelkens
creation_date: 2011-11-30T11:21:16Z

[Term]
id: HP:0100872
name: Abnormality of the plantar skin of foot
alt_id: HP:0010613
def: "An abnormality of the plantar part of foot, that is of the soles of the feet." [HPO:probinson]
synonym: "Minor feet anomalies" EXACT []
xref: UMLS:C4020946
is_a: HP:0001760 ! Abnormality of the foot
is_a: HP:0011356 ! Regional abnormality of skin
created_by: doelkens
creation_date: 2011-11-30T11:23:05Z

[Term]
id: HP:0100874
name: Thick hair
def: "Increased density of hairs, i.e., and elevated number of hairs per unit area." [HPO:probinson]
subset: hposlim_core
synonym: "Increased follicular density" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased hair density" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Thick hair" EXACT layperson []
xref: UMLS:C4073184
is_a: HP:0011357 ! Abnormality of hair density
created_by: doelkens
creation_date: 2011-12-01T02:13:58Z

[Term]
id: HP:0100875
name: Hemimacroglossia
def: "Increased length and width of one half of the tounge." [HPO:sdoelken]
synonym: "Hemiglossal hyperplasia" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hemiglossal hypertrophy" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of half of the tongue" BROAD [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of half of the tongue" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased size of half of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large half of tongue" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021947
xref: UMLS:C4280287
is_a: HP:0000158 ! Macroglossia
created_by: doelkens
creation_date: 2011-12-01T02:15:01Z

[Term]
id: HP:0100876
name: Infra-orbital crease
alt_id: HP:0007796
def: "Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma." [pmid:19125427]
comment: This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but should be coded separately.
subset: hposlim_core
synonym: "Crease in skin under the eye" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Groove in skin under the eye" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Infraorbital crease" EXACT []
synonym: "Infraorbital creases" EXACT []
synonym: "Underorbital skin creases" EXACT []
xref: UMLS:C1857280
is_a: HP:0000606 ! Abnormality of the periorbital region
created_by: doelkens
creation_date: 2011-12-01T02:21:22Z

[Term]
id: HP:0100877
name: Renal diverticulum
def: "Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system." [HPO:sdoelken]
synonym: "Caliceal diverticulum" EXACT []
synonym: "Pelvic diverticulum" EXACT []
synonym: "Renal pelvic diverticulum" EXACT []
xref: SNOMEDCT_US:433036004
xref: UMLS:C2315541
is_a: HP:0000107 ! Renal cyst
is_a: HP:0004742 ! Abnormal renal collecting system morphology
created_by: doelkens
creation_date: 2011-12-01T02:29:09Z

[Term]
id: HP:0100878
name: Enlarged uterus
synonym: "Enlarged uterus" EXACT layperson []
xref: SNOMEDCT_US:198319004
xref: UMLS:C0151994
is_a: HP:0031105 ! Abnormal uterus morphology
created_by: doelkens
creation_date: 2011-12-01T02:32:26Z

[Term]
id: HP:0100879
name: Enlarged ovaries
synonym: "Enlarged ovaries" EXACT layperson []
xref: SNOMEDCT_US:66998000
xref: UMLS:C0392039
is_a: HP:0031065 ! Abnormal ovarian morphology
created_by: doelkens
creation_date: 2011-12-01T02:33:12Z

[Term]
id: HP:0100880
name: Nephrogenic rest
def: "Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney." [HPO:sdoelken]
comment: Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests.
xref: SNOMEDCT_US:405933007
xref: UMLS:C1320468
is_a: HP:0012210 ! Abnormal renal morphology
created_by: doelkens
creation_date: 2011-12-01T02:41:34Z

[Term]
id: HP:0100881
name: Congenital mesoblastic nephroma
def: "Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue." [HPO:sdoelken]
comment: Congenital mesoblastic nephroma is more common in males.
xref: MSH:D018201
xref: UMLS:C1332965
is_a: HP:0003549 ! Abnormality of connective tissue
is_a: HP:0011794 ! Embryonal renal neoplasm
created_by: doelkens
creation_date: 2011-12-01T02:44:52Z

[Term]
id: HP:0100882
name: Fibrous hamartoma
def: "A rare, benign soft tissue tumor that typically occurs within the first two years of life." [HPO:sdoelken]
synonym: "Fibrous hamartoma of infancy" EXACT []
xref: SNOMEDCT_US:22257004
xref: SNOMEDCT_US:56364004
xref: UMLS:C0265979
is_a: HP:0010566 ! Hamartoma
created_by: doelkens
creation_date: 2011-12-01T02:48:30Z

[Term]
id: HP:0100883
name: Chorangioma
def: "Hamartoma-like growth in the placenta consisting of blood vessels." [HPO:sdoelken]
xref: MSH:D006391
xref: SNOMEDCT_US:2099007
xref: SNOMEDCT_US:237268002
xref: SNOMEDCT_US:699948001
xref: UMLS:C0677608
is_a: HP:0010566 ! Hamartoma
is_a: HP:0100767 ! Abnormality of the placenta
created_by: doelkens
creation_date: 2011-12-01T02:50:56Z

[Term]
id: HP:0100884
name: Compensatory scoliosis
def: "A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time." [HPO:sdoelken]
xref: SNOMEDCT_US:203645000
xref: UMLS:C0343292
is_a: HP:0002650 ! Scoliosis
created_by: doelkens
creation_date: 2011-12-01T02:56:41Z

[Term]
id: HP:0100885
name: Lateral venous anomaly
def: "Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life." [HPO:sdoelken]
synonym: "Lateral marginal vein of Servelle" EXACT []
synonym: "Vein of servelle" EXACT []
xref: UMLS:C4020945
is_a: HP:0001015 ! Prominent superficial veins
created_by: doelkens
creation_date: 2011-12-01T03:16:02Z

[Term]
id: HP:0100886
name: Abnormality of globe location
def: "An abnormality in the placement of the ocular globe (eyeball)." [HPO:sdoelken]
synonym: "Abnormality of eyeball location" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of eyeball position" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of globe position" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021946
is_a: HP:0012372 ! Abnormal eye morphology
created_by: doelkens
creation_date: 2011-12-13T04:25:29Z

[Term]
id: HP:0100887
name: Abnormality of globe size
alt_id: HP:0010725
def: "An abnormality in the size of the ocular globe (eyeball)." [HPO:sdoelken]
synonym: "Abnormality of eyeball size" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Eye size difference" EXACT layperson []
xref: UMLS:C4021945
is_a: HP:0012372 ! Abnormal eye morphology
created_by: doelkens
creation_date: 2011-12-13T04:25:29Z

[Term]
id: HP:0100888
name: Interdigital loops
xref: UMLS:C4021944
is_a: HP:0007477 ! Abnormal dermatoglyphics
created_by: doelkens
creation_date: 2011-12-01T04:50:01Z

[Term]
id: HP:0100889
name: Abnormality of the ductus choledochus
def: "An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder." [HPO:sdoelken]
synonym: "Abnormality of the common bile duct" EXACT []
xref: UMLS:C4020944
is_a: HP:0012440 ! Abnormal biliary tract morphology
created_by: doelkens
creation_date: 2011-12-01T04:52:13Z

[Term]
id: HP:0100890
name: Cyst of the ductus choledochus
synonym: "Choledochal cyst" EXACT []
xref: MSH:D015529
xref: SNOMEDCT_US:397868007
xref: SNOMEDCT_US:398197009
xref: SNOMEDCT_US:440471007
xref: UMLS:C0008340
is_a: HP:0100889 ! Abnormality of the ductus choledochus
created_by: doelkens
creation_date: 2011-12-01T05:02:35Z

[Term]
id: HP:0100891
name: Bifid xiphoid process
def: "A cleft of the xiphoid process of the sternum." [HPO:sdoelken]
synonym: "Bifid xiphisternum" EXACT []
xref: UMLS:C4020943
is_a: HP:0100892 ! Abnormality of the xiphoid process
created_by: doelkens
creation_date: 2011-12-01T05:07:17Z

[Term]
id: HP:0100892
name: Abnormality of the xiphoid process
def: "An abnormality of the xiphoid process of the sternum." [HPO:sdoelken]
xref: UMLS:C4021943
is_a: HP:0000766 ! Abnormality of the sternum
created_by: doelkens
creation_date: 2011-12-01T05:09:03Z

[Term]
id: HP:0100893
name: Prominent xiphoid process
def: "Increased prominence of the xiphoid process of the sternum." [HPO:probinson]
synonym: "Prominent xiphisternum" EXACT []
xref: UMLS:C4020942
is_a: HP:0100892 ! Abnormality of the xiphoid process
created_by: doelkens
creation_date: 2011-12-01T05:10:05Z

[Term]
id: HP:0100894
name: Broad xiphoid process
def: "Increased side-to-side width of the xiphoid process of the sternum." [HPO:probinson]
synonym: "Broad xiphisternum" EXACT []
xref: UMLS:C4020901
is_a: HP:0100892 ! Abnormality of the xiphoid process
created_by: doelkens
creation_date: 2011-12-01T05:10:27Z

[Term]
id: HP:0100896
name: Rectal polyposis
alt_id: HP:0100897
def: "The presence of multiple rectal hyperplastic/adenomatous polyps." [HPO:probinson]
synonym: "Multiple rectal polyps" EXACT []
synonym: "Rectal polyps" EXACT []
xref: SNOMEDCT_US:39772007
xref: UMLS:C0034887
is_a: HP:0030255 ! Large intestinal polyposis
is_a: HP:0100743 ! Neoplasm of the rectum
created_by: doelkens
creation_date: 2011-12-01T05:33:49Z

[Term]
id: HP:0100898
name: Connective tissue nevi
def: "Connective tissue nevi are hamartomas in which one or several components of the dermis is altered." [HPO:sdoelken]
comment: Lesions in which collagen predominates are called collagenomas; lesions in which elastin predominates are called elastomas. A nevus mucinosis is a lesion in which an alteration in the amount of dermal glycosaminoglycan is present. The name nevus mucinosis is also used for lesions in which an alteration in more than one dermal component is present. Connective tissue nevi may be solitary or multiple, sporadic or inherited. They may occur as isolated skin lesions, or they may be associated with a number of syndromes.
xref: MSH:C562737
xref: SNOMEDCT_US:22858003
xref: SNOMEDCT_US:400091006
xref: UMLS:C0334083
is_a: HP:0003549 ! Abnormality of connective tissue
is_a: HP:0003764 ! Nevus
created_by: doelkens
creation_date: 2011-12-01T05:39:30Z

[Term]
id: HP:0100899
name: Sclerosis of finger phalanx
def: "An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in the finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the hand" EXACT []
xref: UMLS:C4020941
is_a: HP:0004054 ! Sclerosis of hand bone
is_a: HP:0005918 ! Abnormal finger phalanx morphology
created_by: doelkens
creation_date: 2011-12-02T09:34:05Z

[Term]
id: HP:0100900
name: Sclerosis of the distal phalanx of the 2nd finger
synonym: "Increased bone density in the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021942
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx

[Term]
id: HP:0100901
name: Sclerosis of the distal phalanx of the 3rd finger
synonym: "Increased bone density in the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021941
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx

[Term]
id: HP:0100902
name: Sclerosis of the distal phalanx of the 4th finger
synonym: "Increased bone density in the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021940
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
is_a: HP:0100920 ! Sclerosis of 4th finger phalanx

[Term]
id: HP:0100903
name: Sclerosis of the distal phalanx of the 5th finger
synonym: "Increased bone density in the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021939
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
is_a: HP:0100921 ! Sclerosis of 5th finger phalanx

[Term]
id: HP:0100904
name: Sclerosis of the middle phalanx of the 2nd finger
synonym: "Increased bone density in the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021938
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx

[Term]
id: HP:0100905
name: Sclerosis of the middle phalanx of the 3rd finger
synonym: "Increased bone density in the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021937
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx

[Term]
id: HP:0100906
name: Sclerosis of the middle phalanx of the 4th finger
synonym: "Increased bone density in the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021936
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
is_a: HP:0100920 ! Sclerosis of 4th finger phalanx

[Term]
id: HP:0100907
name: Sclerosis of the middle phalanx of the 5th finger
synonym: "Increased bone density in the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021935
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
is_a: HP:0100921 ! Sclerosis of 5th finger phalanx

[Term]
id: HP:0100908
name: Sclerosis of the proximal phalanx of the 2nd finger
synonym: "Increased bone density in the innermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021934
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx
is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx

[Term]
id: HP:0100909
name: Sclerosis of the proximal phalanx of the 3rd finger
synonym: "Increased bone density in innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021933
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx
is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx

[Term]
id: HP:0100910
name: Sclerosis of the proximal phalanx of the 4th finger
synonym: "Increased bone density in the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021932
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx
is_a: HP:0100920 ! Sclerosis of 4th finger phalanx

[Term]
id: HP:0100911
name: Sclerosis of the proximal phalanx of the 5th finger
synonym: "Increased bone density in innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021931
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx
is_a: HP:0100921 ! Sclerosis of 5th finger phalanx

[Term]
id: HP:0100912
name: Sclerosis of the distal phalanx of the thumb
def: "An elevation of bone density in the distal phalanx of the thumb." [HPO:probinson]
comment: Sclerosis can be identified on a radiograph as an area of increased opacity.
synonym: "Increased bone density in the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021930
is_a: HP:0100915 ! Sclerosis of distal finger phalanx
is_a: HP:0100922 ! Sclerosis of thumb phalanx

[Term]
id: HP:0100913
name: Sclerosis of the proximal phalanx of the thumb
def: "An elevation of bone density in the proximal phalanx of the thumb." [HPO:probinson]
synonym: "Increased bone density in the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021929
is_a: HP:0100916 ! Sclerosis of middle finger phalanx
is_a: HP:0100922 ! Sclerosis of thumb phalanx

[Term]
id: HP:0100914
name: Sclerosis of the 1st metacarpal
synonym: "Increased bone density in 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021928
is_a: HP:0100917 ! Sclerosis of proximal finger phalanx

[Term]
id: HP:0100915
name: Sclerosis of distal finger phalanx
def: "An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the distal phalanges of the hand" EXACT []
xref: UMLS:C4020940
is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger
is_a: HP:0100899 ! Sclerosis of finger phalanx

[Term]
id: HP:0100916
name: Sclerosis of middle finger phalanx
def: "An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in middle finger bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the middle phalanges of the hand" EXACT []
xref: UMLS:C4020939
is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand
is_a: HP:0100899 ! Sclerosis of finger phalanx

[Term]
id: HP:0100917
name: Sclerosis of proximal finger phalanx
def: "An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the proximal phalanges of the hand" EXACT []
xref: UMLS:C4020938
is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand
is_a: HP:0100899 ! Sclerosis of finger phalanx

[Term]
id: HP:0100918
name: Sclerosis of 2nd finger phalanx
def: "An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in 2nd finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the 2nd finger" EXACT []
xref: UMLS:C4020937
is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger
is_a: HP:0100899 ! Sclerosis of finger phalanx

[Term]
id: HP:0100919
name: Sclerosis of 3rd finger phalanx
def: "An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the 3rd finger" EXACT []
xref: UMLS:C4020936
is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology
is_a: HP:0100899 ! Sclerosis of finger phalanx

[Term]
id: HP:0100920
name: Sclerosis of 4th finger phalanx
def: "An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the 4th finger" EXACT []
xref: UMLS:C4020935
is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology
is_a: HP:0100899 ! Sclerosis of finger phalanx

[Term]
id: HP:0100921
name: Sclerosis of 5th finger phalanx
def: "An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the 5th finger" EXACT []
xref: UMLS:C4020934
is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology
is_a: HP:0100899 ! Sclerosis of finger phalanx

[Term]
id: HP:0100922
name: Sclerosis of thumb phalanx
synonym: "Increased bone density in thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the thumb" EXACT []
xref: UMLS:C4020933
is_a: HP:0009602 ! Abnormality of thumb phalanx
is_a: HP:0100899 ! Sclerosis of finger phalanx

[Term]
id: HP:0100923
name: Clavicular sclerosis
alt_id: HP:0006648
def: "An increase in bone density within the clavicle." [HPO:probinson]
synonym: "Increased bone density in collarbone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Osteosclerosis of the clavicle" EXACT []
synonym: "Osteosclerosis of the clavicles" RELATED [HPO:skoehler]
xref: UMLS:C3554669
is_a: HP:0000889 ! Abnormality of the clavicle
is_a: HP:0011001 ! Increased bone mineral density
created_by: doelkens
creation_date: 2011-12-02T10:28:41Z

[Term]
id: HP:0100924
name: Sclerosis of toe phalanx
def: "An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in the toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the toes" EXACT []
xref: UMLS:C4020932
is_a: HP:0010161 ! Abnormality of the phalanges of the toes
is_a: HP:0100925 ! Sclerosis of foot bone
created_by: doelkens
creation_date: 2011-12-02T11:08:43Z

[Term]
id: HP:0100925
name: Sclerosis of foot bone
def: "An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in foot bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of bones of the feet" EXACT []
xref: UMLS:C4020931
is_a: HP:0011001 ! Increased bone mineral density
created_by: doelkens
creation_date: 2011-12-02T11:12:32Z

[Term]
id: HP:0100926
name: Sclerosis of 2nd toe phalanx
def: "An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the 2nd toe" EXACT []
xref: UMLS:C4020930
is_a: HP:0100924 ! Sclerosis of toe phalanx

[Term]
id: HP:0100927
name: Sclerosis of 3rd toe phalanx
def: "An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the 3rd toe" EXACT []
xref: UMLS:C4020929
is_a: HP:0100924 ! Sclerosis of toe phalanx

[Term]
id: HP:0100928
name: Sclerosis of 4th toe phalanx
def: "An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the 4th toe" EXACT []
xref: UMLS:C4020928
is_a: HP:0100924 ! Sclerosis of toe phalanx

[Term]
id: HP:0100929
name: Sclerosis of 5th toe phalanx
def: "An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the 5th toe" EXACT []
xref: UMLS:C4020927
is_a: HP:0100924 ! Sclerosis of toe phalanx

[Term]
id: HP:0100930
name: Sclerosis of hallux phalanx
def: "An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the phalanges of the hallux" EXACT []
xref: UMLS:C4020926
is_a: HP:0100924 ! Sclerosis of toe phalanx

[Term]
id: HP:0100931
name: Sclerosis of the proximal phalanx of the 2nd toe
def: "An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021927
is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx
is_a: HP:0100946 ! Sclerosis of proximal toe phalanx

[Term]
id: HP:0100932
name: Sclerosis of the proximal phalanx of the 3rd toe
def: "An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021926
is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx
is_a: HP:0100946 ! Sclerosis of proximal toe phalanx

[Term]
id: HP:0100933
name: Sclerosis of the proximal phalanx of the 4th toe
synonym: "Increased bone density in the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021925
is_a: HP:0100928 ! Sclerosis of 4th toe phalanx
is_a: HP:0100946 ! Sclerosis of proximal toe phalanx

[Term]
id: HP:0100934
name: Sclerosis of the proximal phalanx of the 5th toe
synonym: "Increased bone density in the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021924
is_a: HP:0100929 ! Sclerosis of 5th toe phalanx
is_a: HP:0100946 ! Sclerosis of proximal toe phalanx

[Term]
id: HP:0100935
name: Sclerosis of the middle phalanx of the 2nd toe
synonym: "Increased bone density in the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021923
is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx
is_a: HP:0100947 ! Sclerosis of middle toe phalanx

[Term]
id: HP:0100936
name: Sclerosis of the middle phalanx of the 3rd toe
def: "An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021922
is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx
is_a: HP:0100947 ! Sclerosis of middle toe phalanx

[Term]
id: HP:0100937
name: Sclerosis of the middle phalanx of the 4th toe
synonym: "Increased bone density in the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021921
is_a: HP:0100928 ! Sclerosis of 4th toe phalanx
is_a: HP:0100947 ! Sclerosis of middle toe phalanx

[Term]
id: HP:0100938
name: Sclerosis of the middle phalanx of the 5th toe
synonym: "Increased bone density in the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021920
is_a: HP:0100929 ! Sclerosis of 5th toe phalanx
is_a: HP:0100947 ! Sclerosis of middle toe phalanx

[Term]
id: HP:0100939
name: Sclerosis of the distal phalanx of the 2nd toe
synonym: "Increased bone density in the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021919
is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe
is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx
is_a: HP:0100948 ! Sclerosis of distal toe phalanx

[Term]
id: HP:0100940
name: Sclerosis of the distal phalanx of the 3rd toe
def: "An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021918
is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx
is_a: HP:0100948 ! Sclerosis of distal toe phalanx

[Term]
id: HP:0100941
name: Sclerosis of the distal phalanx of the 4th toe
synonym: "Increased bone density in the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021917
is_a: HP:0100928 ! Sclerosis of 4th toe phalanx
is_a: HP:0100948 ! Sclerosis of distal toe phalanx

[Term]
id: HP:0100942
name: Sclerosis of the distal phalanx of the 5th toe
synonym: "Increased bone density in the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Increased bone density in the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021916
is_a: HP:0100929 ! Sclerosis of 5th toe phalanx
is_a: HP:0100948 ! Sclerosis of distal toe phalanx

[Term]
id: HP:0100943
name: Sclerosis of the proximal phalanx of the hallux
synonym: "Increased bone density in the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021915
is_a: HP:0100930 ! Sclerosis of hallux phalanx
is_a: HP:0100947 ! Sclerosis of middle toe phalanx

[Term]
id: HP:0100944
name: Sclerosis of the distal phalanx of the hallux
synonym: "Increased bone density in the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021914
is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux
is_a: HP:0100930 ! Sclerosis of hallux phalanx
is_a: HP:0100948 ! Sclerosis of distal toe phalanx

[Term]
id: HP:0100945
name: Sclerosis of the 1st metatarsal
synonym: "Increased bone density in the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021913
is_a: HP:0100930 ! Sclerosis of hallux phalanx

[Term]
id: HP:0100946
name: Sclerosis of proximal toe phalanx
def: "An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the proximal phalanges of the toes" EXACT []
xref: UMLS:C4020925
is_a: HP:0010184 ! Abnormality of toe proximal phalanx
is_a: HP:0100924 ! Sclerosis of toe phalanx

[Term]
id: HP:0100947
name: Sclerosis of middle toe phalanx
def: "An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in middle toe bone" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the middle phalanges of the toes" EXACT []
xref: UMLS:C4020924
is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes
is_a: HP:0100924 ! Sclerosis of toe phalanx

[Term]
id: HP:0100948
name: Sclerosis of distal toe phalanx
def: "An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson]
synonym: "Increased bone density in the outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Sclerosis of the distal phalanges of the toes" EXACT []
xref: UMLS:C4020923
is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes
is_a: HP:0100924 ! Sclerosis of toe phalanx

[Term]
id: HP:0100950
name: Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
comment: Previously, 3-alpha-hydroxyacyl-CoA dehydrogenase was referred to as short-chain 3-alpha-hydroxyacyl-CoA dehydrogenase as well as medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase.
synonym: "Long chain 3 hydroxyacyl coA dehydrogenase deficiency" RELATED []
synonym: "Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency" RELATED []
synonym: "Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" RELATED []
xref: MSH:C566945
xref: SNOMEDCT_US:237999008
xref: UMLS:C1969443
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: doelkens
creation_date: 2011-12-02T04:33:23Z

[Term]
id: HP:0100951
name: Enlarged fossa interpeduncularis
alt_id: HP:0002420
synonym: "Enlarged basal cistern" EXACT []
synonym: "Enlarged interpeduncular cistern" EXACT []
xref: UMLS:C4020922
is_a: HP:0002119 ! Ventriculomegaly
created_by: doelkens
creation_date: 2011-12-02T04:45:02Z

[Term]
id: HP:0100952
name: Enlarged sylvian cistern
def: "An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure)." [HPO:probinson]
synonym: "Enlarged lateral fissure" EXACT []
synonym: "Enlarged lateral sulcus" EXACT []
synonym: "Enlarged sylvian fissure" EXACT []
xref: UMLS:C4020921
is_a: HP:0002119 ! Ventriculomegaly
created_by: doelkens
creation_date: 2011-12-02T04:47:51Z

[Term]
id: HP:0100953
name: Enlarged interhemispheric fissure
synonym: "Enlarged great longitudinal fissure" EXACT []
synonym: "Enlarged longitudinal cerebral fissure" EXACT []
synonym: "Enlarged longitudinal fissure" EXACT []
xref: UMLS:C4020920
is_a: HP:0012703 ! Abnormal subarachnoid space morphology
created_by: doelkens
creation_date: 2011-12-02T04:49:49Z

[Term]
id: HP:0100954
name: Open operculum
def: "Underdevelopment of the operculum." [HPO:sdoelken]
xref: UMLS:C2675973
is_a: HP:0002538 ! Abnormality of the cerebral cortex
is_a: HP:0006872 ! Cerebral hypoplasia
created_by: doelkens
creation_date: 2011-12-02T04:55:20Z

[Term]
id: HP:0100955
name: Giant cell granuloma of mandible
xref: UMLS:C4021912
is_a: HP:0000277 ! Abnormality of the mandible
created_by: doelkens
creation_date: 2011-12-02T04:57:10Z

[Term]
id: HP:0100957
name: Abnormal renal medulla morphology
alt_id: HP:0005582
def: "Any structural abnormality of the medulla of the kidney." [HPO:probinson, PMID:22343825]
comment: The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis.
synonym: "Abnormality of the renal medulla" EXACT []
xref: UMLS:C4021911
is_a: HP:0012210 ! Abnormal renal morphology
created_by: doelkens
creation_date: 2011-12-12T10:02:15Z

[Term]
id: HP:0100958
name: Narrow foramen obturatorium
def: "Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis." [HPO:probinson]
xref: UMLS:C4021910
is_a: HP:0003172 ! Abnormality of the pubic bone
is_a: HP:0003174 ! Abnormality of the ischium
created_by: doelkens
creation_date: 2012-01-18T05:17:14Z

[Term]
id: HP:0100959
name: Dense metaphyseal bands
def: "Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex." [HPO:sdoelken, PMID:10352605]
synonym: "Dense metaphyseal lines" EXACT []
synonym: "Transverse metaphyseal bands" EXACT []
xref: UMLS:C4020919
is_a: HP:0000944 ! Abnormality of the metaphysis
created_by: doelkens
creation_date: 2012-01-18T05:25:57Z

[Term]
id: HP:0100960
name: Asymmetric ventricles
xref: UMLS:C4021909
is_a: HP:0002118 ! Abnormality of the cerebral ventricles
created_by: doelkens
creation_date: 2012-01-18T05:47:26Z

[Term]
id: HP:0100961
name: Enlarged hippocampus
def: "Increase in size of the hippocampus." [HPO:probinson]
comment: The hippocampus is part of the limbic system and plays a role in long- and short-term memory.
xref: UMLS:C4021908
is_a: HP:0025100 ! Abnormal morphology of the hippocampus
created_by: doelkens
creation_date: 2012-01-18T06:05:24Z

[Term]
id: HP:0100962
name: Shyness
synonym: "Shyness" EXACT layperson []
xref: MSH:D012792
xref: UMLS:C0037020
is_a: HP:0012433 ! Abnormal social behavior
created_by: doelkens
creation_date: 2012-01-18T06:06:28Z

[Term]
id: HP:0100963
name: Hyperesthesia
synonym: "Hyperaesthesia" EXACT []
xref: MSH:D006941
xref: SNOMEDCT_US:14151009
xref: UMLS:C0020453
is_a: HP:0000763 ! Sensory neuropathy
created_by: doelkens
creation_date: 2012-01-18T06:11:19Z

[Term]
id: HP:0200000
name: Dysharmonic bone age
def: "Different levels of maturation of different bones." [HPO:probinson]
comment: Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. \nIf the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation.
synonym: "Dysharmonic skeletal maturation" EXACT []
xref: UMLS:C4020918
is_a: HP:0000927 ! Abnormality of skeletal maturation
created_by: sebastiankohler
creation_date: 2010-05-31T01:16:51Z

[Term]
id: HP:0200001
name: Dysharmonic accelerated bone age
def: "A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones." [HPO:probinson]
xref: UMLS:C4021907
is_a: HP:0005616 ! Accelerated skeletal maturation
is_a: HP:0200000 ! Dysharmonic bone age
created_by: sebastiankohler
creation_date: 2010-05-31T01:20:58Z

[Term]
id: HP:0200003
name: Splayed epiphyses
alt_id: HP:0004978
def: "Flaring (widening) of the epiphysis." [HPO:probinson]
synonym: "Splayed end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021906
is_a: HP:0005930 ! Abnormality of epiphysis morphology
created_by: sebastiankohler
creation_date: 2010-05-31T02:19:45Z

[Term]
id: HP:0200005
name: Abnormal shape of the palpebral fissure
def: "The presence of an abnormal shape of the palpebral fissure." [HPO:probinson]
subset: hposlim_core
synonym: "Abnormal morphology of the palpebral fissure" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormal shape of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021905
is_a: HP:0008050 ! Abnormality of the palpebral fissures
created_by: sebastiankohler
creation_date: 2010-06-09T07:56:37Z

[Term]
id: HP:0200006
name: Slanting of the palpebral fissure
synonym: "Slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C2748932
is_a: HP:0008050 ! Abnormality of the palpebral fissures
created_by: sebastiankohler
creation_date: 2010-06-09T07:57:10Z

[Term]
id: HP:0200007
name: Abnormal size of the palpebral fissures
def: "An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures." [HPO:sdoelken]
synonym: "Abnormal size of the eyes" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormal size of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021904
xref: UMLS:C4280286
is_a: HP:0008050 ! Abnormality of the palpebral fissures
created_by: sebastiankohler
creation_date: 2010-06-09T08:18:52Z

[Term]
id: HP:0200008
name: Intestinal polyposis
def: "The presence of multiple polyps in the intestine." [HPO:probinson]
synonym: "Gastrointestinal polyps" RELATED [HPO:skoehler]
synonym: "Growths in inner lining of intestine" BROAD layperson [https://orcid.org/0000-0002-6548-5200]
synonym: "Multiple intestinal polyps" EXACT []
xref: MSH:D044483
xref: UMLS:C0744333
xref: UMLS:C1257915
is_a: HP:0005266 ! Intestinal polyp
created_by: sebastiankohler
creation_date: 2010-06-09T11:38:54Z

[Term]
id: HP:0200011
name: Abnormal length of corpus callosum
xref: UMLS:C4021903
is_a: HP:0001273 ! Abnormal corpus callosum morphology
created_by: sebastiankohler
creation_date: 2010-06-09T11:52:00Z

[Term]
id: HP:0200012
name: Short corpus callosum
xref: UMLS:C4021902
is_a: HP:0200011 ! Abnormal length of corpus callosum
created_by: sebastiankohler
creation_date: 2010-06-09T11:52:21Z

[Term]
id: HP:0200013
name: Neoplasm of fatty tissue
def: "A tumor (abnormal growth of tissue) of adipose tissue." [HPO:sdoelken]
synonym: "Tumor of fatty tissue" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: NCIT:C3262
xref: UMLS:C4021901
is_a: HP:0009124 ! Abnormal adipose tissue morphology
is_a: HP:0011793 ! Neoplasm by anatomical site
created_by: sebastiankohler
creation_date: 2010-06-10T09:37:17Z

[Term]
id: HP:0200015
name: Symmetric great toe depigmentation
xref: UMLS:C4021900
is_a: HP:0001000 ! Abnormality of skin pigmentation
created_by: sebastiankohler
creation_date: 2010-06-16T11:57:43Z

[Term]
id: HP:0200016
name: Acrokeratosis
def: "Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet." [HPO:skoehler]
synonym: "Acral keratosis" EXACT []
xref: SNOMEDCT_US:46629009
xref: UMLS:C0001202
is_a: HP:0011368 ! Epidermal thickening
is_a: HP:0200036 ! Skin nodule
created_by: sebastiankohler
creation_date: 2010-06-16T12:18:42Z

[Term]
id: HP:0200017
name: Cerebral white matter agenesis
def: "Congenital defect with failure of the development of the cerebral white matter." [HPO:probinson]
synonym: "Agenesis of the cerebral white matter" EXACT []
synonym: "White matter agenesis" EXACT []
xref: UMLS:C1859969
is_a: HP:0012429 ! Aplasia/Hypoplasia of the cerebral white matter
created_by: sebastiankohler
creation_date: 2010-06-16T12:37:37Z

[Term]
id: HP:0200018
name: Protanomaly
alt_id: HP:0200019
def: "A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green." [HPO:probinson]
comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green.
synonym: "Colorblindness, partial, protan series" EXACT []
synonym: "Red-weak" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: MSH:D003117
xref: SNOMEDCT_US:51445007
xref: UMLS:C0155015
xref: UMLS:C3887980
is_a: HP:0000642 ! Red-green dyschromatopsia
is_a: HP:0011519 ! Anomalous trichromacy
created_by: sebastiankohler
creation_date: 2010-06-16T12:55:24Z

[Term]
id: HP:0200020
name: Corneal erosion
def: "An erosion or abrasion of the cornea's outermost layer of epithelial cells." [HPO:sdoelken]
subset: hposlim_core
synonym: "Damage to outer layer of the cornea of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200]
xref: SNOMEDCT_US:50792001
xref: UMLS:C0392163
is_a: HP:0011495 ! Abnormal corneal epithelium morphology
created_by: sebastiankohler
creation_date: 2010-06-16T01:50:48Z

[Term]
id: HP:0200021
name: Down-sloping shoulders
alt_id: HP:0001556
alt_id: HP:0006663
def: "Low set, steeply sloping shoulders." [HPO:probinson]
subset: hposlim_core
synonym: "Down-sloping shoulders" EXACT layperson []
synonym: "Rounded shoulders" EXACT layperson []
synonym: "Rounded, sloping shoulders" EXACT layperson []
synonym: "Sloping shoulders" EXACT layperson []
xref: UMLS:C1856872
is_a: HP:0003043 ! Abnormality of the shoulder
created_by: sebastiankohler
creation_date: 2010-06-16T02:15:20Z

[Term]
id: HP:0200022
name: Choroid plexus papilloma
def: "Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus." [HPO:skoehler]
xref: MSH:D020288
xref: NCIT:C3698
xref: SNOMEDCT_US:18021007
xref: UMLS:C0205770
is_a: HP:0007376 ! Abnormality of the choroid plexus
is_a: HP:0012740 ! Papilloma
is_a: HP:0100835 ! Benign neoplasm of the central nervous system
created_by: sebastiankohler
creation_date: 2010-06-16T04:01:24Z

[Term]
id: HP:0200023
name: Priapism
def: "A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours." [HPO:skoehler]
synonym: "hulseyism" EXACT []
xref: MSH:D011317
xref: SNOMEDCT_US:6273006
xref: UMLS:C0033117
is_a: HP:0100639 ! Erectile abnormalities
created_by: sebastiankohler
creation_date: 2010-06-16T05:00:44Z

[Term]
id: HP:0200024
name: Premature chromatid separation
def: "The presence of premature sister chromatid segregation." [HPO:probinson]
xref: UMLS:C4021899
is_a: HP:0002916 ! Abnormality of chromosome segregation
created_by: sebastiankohler
creation_date: 2010-06-16T05:13:30Z

[Term]
id: HP:0200025
name: Mandibular pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible." []
synonym: "Lower jaw pain" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:274667000
xref: UMLS:C0236000
is_a: HP:0000277 ! Abnormality of the mandible
is_a: HP:0012531 ! Pain
created_by: sebastiankohler
creation_date: 2010-06-16T07:33:14Z

[Term]
id: HP:0200026
name: Ocular pain
def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye." []
synonym: "Eye pain" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: MSH:D058447
xref: SNOMEDCT_US:41652007
xref: UMLS:C0151827
is_a: HP:0012373 ! Abnormal eye physiology
is_a: HP:0012531 ! Pain
created_by: sebastiankohler
creation_date: 2010-06-16T07:39:04Z

[Term]
id: HP:0200028
name: Pretibial myxedema
def: "A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet." [HPO:skoehler]
synonym: "Graves dermopathy" EXACT [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:237825005
xref: SNOMEDCT_US:78146007
xref: UMLS:C0033103
xref: UMLS:C0342554
is_a: HP:0011356 ! Regional abnormality of skin
created_by: sebastiankohler
creation_date: 2010-06-17T02:32:36Z

[Term]
id: HP:0200029
name: Vasculitis in the skin
synonym: "Cutaneous vasculitis" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:53312001
xref: UMLS:C0262988
is_a: HP:0002633 ! Vasculitis
is_a: HP:0011276 ! Vascular skin abnormality
created_by: sebastiankohler
creation_date: 2010-06-17T02:55:19Z

[Term]
id: HP:0200030
name: Punctate vasculitis skin lesions
xref: UMLS:C3277693
is_a: HP:0200029 ! Vasculitis in the skin
created_by: sebastiankohler
creation_date: 2010-06-17T02:55:38Z

[Term]
id: HP:0200032
name: Kayser-Fleischer ring
def: "Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea." [HPO:SKOEHLER]
synonym: "Fleischer's ring" EXACT [HPO:SKOEHLER]
synonym: "Fleischer-Kayser ring" EXACT [HPO:SKOEHLER]
synonym: "Fleischer-Struempell ring" EXACT [HPO:SKOEHLER]
xref: SNOMEDCT_US:77103006
xref: UMLS:C0152457
is_a: HP:0007957 ! Corneal opacity
created_by: sebastiankohler
creation_date: 2010-06-24T12:30:24Z

[Term]
id: HP:0200034
name: Papule
def: "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:skoehler]
subset: hposlim_core
synonym: "Papules" EXACT [HPO:skoehler]
synonym: "Skin papules" RELATED []
xref: MEDDRA:10033733 "Papule"
xref: SNOMEDCT_US:25694009
xref: SNOMEDCT_US:443871003
xref: UMLS:C0332563
is_a: HP:0011355 ! Localized skin lesion
created_by: sebastiankohler
creation_date: 2010-06-18T01:38:03Z

[Term]
id: HP:0200035
name: Skin plaque
def: "A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter." [HPO:skoehler]
xref: SNOMEDCT_US:128177006
xref: SNOMEDCT_US:276322001
xref: UMLS:C0241148
is_a: HP:0011355 ! Localized skin lesion
created_by: sebastiankohler
creation_date: 2010-06-18T01:39:28Z

[Term]
id: HP:0200036
name: Skin nodule
def: "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." [HPO:skoehler]
comment: A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children.
synonym: "Growth of abnormal tissue on or under the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432]
xref: SNOMEDCT_US:95319004
xref: UMLS:C0037287
is_a: HP:0011355 ! Localized skin lesion
created_by: sebastiankohler
creation_date: 2010-06-18T01:48:50Z

[Term]
id: HP:0200037
name: Skin vesicle
def: "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
synonym: "Blister" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C3814530
is_a: HP:0011355 ! Localized skin lesion
created_by: sebastiankohler
creation_date: 2010-06-18T01:58:15Z

[Term]
id: HP:0200039
name: Pustule
def: "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:skoehler]
subset: hposlim_core
synonym: "Pimple" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Pustula" EXACT []
synonym: "Pustules" EXACT [HPO:skoehler]
synonym: "Skin pustule" EXACT []
synonym: "Skin pustules" EXACT [HPO:skoehler]
xref: MEDDRA:10037578 "Pustule"
xref: SNOMEDCT_US:103605005
xref: SNOMEDCT_US:271760008
xref: SNOMEDCT_US:285305004
xref: SNOMEDCT_US:47002008
xref: UMLS:C0241157
xref: UMLS:C0542346
is_a: HP:0011123 ! Inflammatory abnormality of the skin
created_by: sebastiankohler
creation_date: 2010-06-18T02:03:24Z

[Term]
id: HP:0200040
name: Epidermoid cyst
def: "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts." [HPO:skoehler]
comment: A cyst is a cavity containing liquid, semisolid, or solid material. An epidermoid cyst is a benign cyst that develops out of ectodermal tissue and consists of a thin layer of squamous epithelium. An epidermal cyst may or may not be painful or release pus, and are usually noticed as a bump on the skin. Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts.
synonym: "Epidermal cyst" EXACT []
synonym: "Epidermal inclusion cyst" EXACT []
synonym: "Epidermoid cysts" RELATED HP:0045078 [HPO:skoehler]
synonym: "Infundibular cyst" EXACT []
synonym: "Keratin cyst" EXACT []
synonym: "Sebaceous cyst" RELATED []
synonym: "Skin cyst" EXACT layperson []
xref: MSH:D004814
xref: SNOMEDCT_US:399999000
xref: SNOMEDCT_US:417992006
xref: SNOMEDCT_US:418323001
xref: SNOMEDCT_US:418630001
xref: SNOMEDCT_US:419603000
xref: SNOMEDCT_US:419670003
xref: SNOMEDCT_US:419893006
xref: UMLS:C0014511
is_a: HP:0025245 ! Cutaneous cyst
created_by: sebastiankohler
creation_date: 2010-06-18T02:08:02Z

[Term]
id: HP:0200041
name: Skin erosion
def: "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:skoehler]
xref: MEDDRA:10040840 "Skin erosion"
xref: SNOMEDCT_US:93448009
xref: UMLS:C3887524
is_a: HP:0011355 ! Localized skin lesion
created_by: sebastiankohler
creation_date: 2010-06-18T02:15:51Z

[Term]
id: HP:0200042
name: Skin ulcer
def: "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:skoehler]
subset: hposlim_core
synonym: "Open skin sore" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200]
xref: MEDDRA:10040943 "Skin ulcer"
xref: MSH:D012883
xref: SNOMEDCT_US:46742003
xref: UMLS:C0037299
is_a: HP:0011355 ! Localized skin lesion
created_by: sebastiankohler
creation_date: 2010-06-18T02:17:00Z

[Term]
id: HP:0200043
name: Verrucae
def: "Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:skoehler]
comment: Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion.
synonym: "Warts" EXACT layperson [HPO:SKOEHLER]
xref: MSH:D014860
xref: SNOMEDCT_US:30285000
xref: SNOMEDCT_US:57019003
xref: UMLS:C3665596
is_a: HP:0012740 ! Papilloma
created_by: sebastiankohler
creation_date: 2010-06-18T11:35:25Z

[Term]
id: HP:0200044
name: Porokeratosis
def: "A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella." [HPO:skoehler]
xref: MSH:D017499
xref: SNOMEDCT_US:80432009
xref: UMLS:C0949506
is_a: HP:0011368 ! Epidermal thickening
created_by: sebastiankohler
creation_date: 2010-06-18T11:57:47Z

[Term]
id: HP:0200046
name: Cat cry
def: "The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten." [HPO:probinson]
comment: This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age.
synonym: "Cat cry" EXACT layperson []
synonym: "cat-like cry" EXACT layperson [HPO:skoehler]
synonym: "cri de chat-associated cry" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:42712003
xref: UMLS:C0234861
is_a: HP:0025429 ! Abnormal cry
created_by: sebastiankohler
creation_date: 2011-02-02T01:56:20Z

[Term]
id: HP:0200047
name: Chondritis of pinna
def: "Inflammation of the cartilage of the external ear." [HPO:probinson]
synonym: "Inflammation of cartilage of pinna" EXACT []
xref: UMLS:C0741305
is_a: HP:0000377 ! Abnormality of the pinna
created_by: sebastiankohler
creation_date: 2011-02-02T02:02:10Z

[Term]
id: HP:0200048
name: Cyanotic episode
xref: SNOMEDCT_US:301795004
xref: UMLS:C0578475
is_a: HP:0000961 ! Cyanosis
created_by: sebastiankohler
creation_date: 2011-02-02T02:03:18Z

[Term]
id: HP:0200049
name: Upper limb hypertonia
xref: UMLS:C4021898
is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs
is_a: HP:0002509 ! Limb hypertonia
created_by: koehlers

[Term]
id: HP:0200050
name: Bracket metacarpal epiphyses
synonym: "Bracket shaped end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C4021897
is_a: HP:0005913 ! Abnormality of metacarpal epiphyses
created_by: koehlers

[Term]
id: HP:0200053
name: Hemihypotrophy of lower limb
alt_id: HP:0005618
def: "Shortening of a leg affecting only one side." [HPO:curators]
synonym: "Asymmetric leg shortening" EXACT []
synonym: "Asymmetric lower limb shortness" EXACT []
xref: UMLS:C1844734
is_a: HP:0100556 ! Hemiatrophy
created_by: sebastiankohler
creation_date: 2011-12-02T03:41:26Z

[Term]
id: HP:0200054
name: Foot monodactyly
xref: UMLS:C4021896
is_a: HP:0001849 ! Foot oligodactyly
created_by: doelkens
creation_date: 2011-11-22T09:56:55Z

[Term]
id: HP:0200055
name: Small hand
def: "Disproportionately small hand." [HPO:probinson]
synonym: "Disproportionately small hands" EXACT layperson []
synonym: "Small hand" EXACT layperson []
synonym: "Small hands" RELATED layperson [HPO:skoehler]
xref: SNOMEDCT_US:299032009
xref: UMLS:C0575802
is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand
created_by: sebastiankohler

[Term]
id: HP:0200056
name: Macular scar
alt_id: HP:0007949
def: "Scar tissue in the macula." [HPO:probinson]
synonym: "Macular scarring" EXACT []
xref: SNOMEDCT_US:18410006
xref: UMLS:C0423428
is_a: HP:0007401 ! Macular atrophy
is_a: HP:0100699 ! Scarring
created_by: sebastiankohler
creation_date: 2012-11-18T11:09:09Z

[Term]
id: HP:0200057
name: Marcus Gunn pupil
comment: Video description of how to test patients at: http://www.youtube.com/watch?v=HSYo7LhfV3A .
synonym: "relative afferent pupil defect" EXACT [HPO:skoehler]
synonym: "relative afferent pupillary defect" EXACT [HPO:skoehler]
xref: SNOMEDCT_US:232122003
xref: SNOMEDCT_US:247015002
xref: UMLS:C0549122
is_a: HP:0000587 ! Abnormality of the optic nerve
created_by: sebastiankohler
creation_date: 2012-11-18T12:14:22Z

[Term]
id: HP:0200058
name: Angiosarcoma
xref: MSH:D006394
xref: SNOMEDCT_US:33176006
xref: SNOMEDCT_US:39000009
xref: SNOMEDCT_US:403977003
xref: UMLS:C0018923
is_a: HP:0030448 ! Soft tissue sarcoma
created_by: sebastiankohler

[Term]
id: HP:0200059
name: Metastatic angiosarcoma
xref: UMLS:C0854892
is_a: HP:0200058 ! Angiosarcoma
created_by: sebastiankohler

[Term]
id: HP:0200063
name: Colorectal polyposis
def: "Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen." []
synonym: "Colorectal polyps" EXACT []
xref: SNOMEDCT_US:399505005
xref: UMLS:C0949059
is_a: HP:0030255 ! Large intestinal polyposis
is_a: HP:0100743 ! Neoplasm of the rectum
created_by: sebastiankohler
creation_date: 2013-05-31T01:19:31Z

[Term]
id: HP:0200064
name: Asymmetry of iris pigmentation
def: "Asymmetry between the two irides or asymmetry between different parts of one iris." [ORCID:0000-0003-0986-4123]
xref: MSH:C538115
xref: SNOMEDCT_US:247033008
xref: UMLS:C0423318
is_a: HP:0008034 ! Abnormal iris pigmentation
created_by: sebastiankohler
creation_date: 2013-05-31T01:27:41Z

[Term]
id: HP:0200065
name: Chorioretinal degeneration
alt_id: HP:0007912
alt_id: HP:0007945
xref: SNOMEDCT_US:247177004
xref: UMLS:C0521683
is_a: HP:0000532 ! Abnormal chorioretinal morphology
created_by: sebastiankohler
creation_date: 2013-05-31T01:29:16Z

[Term]
id: HP:0200066
name: Ribbonlike corneal degeneration
xref: UMLS:C4021894
is_a: HP:0007705 ! Corneal degeneration
created_by: sebastiankohler
creation_date: 2013-05-31T01:31:04Z

[Term]
id: HP:0200067
name: Recurrent spontaneous abortion
def: "Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference." [HPO:probinson]
synonym: "Spontaneous abortion, recurrent" RELATED [HPO:skoehler]
xref: UMLS:C3279439
is_a: HP:0005268 ! Spontaneous abortion
created_by: sebastiankohler
creation_date: 2013-05-31T01:33:01Z

[Term]
id: HP:0200068
name: Nonprogressive visual loss
synonym: "Decreased visual acuity, nonprogressive" RELATED [HPO:skoehler]
xref: UMLS:C3553696
xref: UMLS:C4021893
is_a: HP:0000572 ! Visual loss
created_by: sebastiankohler
creation_date: 2013-05-31T01:36:51Z

[Term]
id: HP:0200070
name: Peripheral retinal atrophy
synonym: "Wasting of the outer part of the retina" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C3553016
is_a: HP:0001105 ! Retinal atrophy
created_by: sebastiankohler
creation_date: 2013-05-31T01:48:09Z

[Term]
id: HP:0200071
name: Peripheral vitreoretinal degeneration
def: "A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina." []
xref: UMLS:C3280349
is_a: HP:0007773 ! Vitreoretinopathy
created_by: sebastiankohler
creation_date: 2013-05-31T01:49:02Z

[Term]
id: HP:0200072
name: Episodic quadriplegia
def: "Intermittent episodes of paralysis of all four limbs." [HPO:probinson]
synonym: "Quadriplegia, episodic" RELATED [HPO:skoehler]
xref: UMLS:C1863062
is_a: HP:0002445 ! Tetraplegia
created_by: sebastiankohler
creation_date: 2013-05-31T04:27:32Z

[Term]
id: HP:0200073
name: Respiratory insufficiency due to defective ciliary clearance
xref: UMLS:C3552099
is_a: HP:0002093 ! Respiratory insufficiency
is_a: HP:0012261 ! Abnormal respiratory motile cilium physiology
created_by: sebastiankohler
creation_date: 2013-05-31T04:31:32Z

[Term]
id: HP:0200083
name: Severe limb shortening
synonym: "Severe limb shortening" EXACT layperson []
xref: UMLS:C1835446
is_a: HP:0002983 ! Micromelia
created_by: sebastiankohler
creation_date: 2013-06-03T04:14:07Z

[Term]
id: HP:0200084
name: Giant cell hepatitis
def: "Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver." [PMID:27746622]
synonym: "Giant cell hepatitis on biopsy" RELATED [HPO:skoehler]
synonym: "Giant cell hepatitis on liver biopsy" RELATED [HPO:skoehler]
synonym: "Giant cell hepatitis shown on biopsy" RELATED [HPO:skoehler]
xref: SNOMEDCT_US:69800000
xref: UMLS:C0027613
xref: UMLS:C2673820
xref: UMLS:C2675624
xref: UMLS:C4020697
is_a: HP:0012115 ! Hepatitis
created_by: sebastiankohler
creation_date: 2013-06-04T02:32:26Z

[Term]
id: HP:0200085
name: Limb tremor
synonym: "Involuntary shaking of limb" EXACT layperson [ORCID:0000-0001-6908-9849]
synonym: "Limb tremor" EXACT layperson []
synonym: "Tremor of limbs" RELATED layperson [HPO:skoehler]
xref: MSH:D014202
xref: UMLS:C0235081
is_a: HP:0030188 ! Tremor by anatomical site
created_by: sebastiankohler
creation_date: 2013-06-04T02:39:15Z

[Term]
id: HP:0200094
name: Frontal open bite
xref: UMLS:C1857012
is_a: HP:0010807 ! Open bite
created_by: sebastiankohler
creation_date: 2013-06-04T03:04:44Z

[Term]
id: HP:0200095
name: Anterior open bite
xref: SNOMEDCT_US:67289000
xref: UMLS:C0266060
is_a: HP:0010807 ! Open bite
created_by: sebastiankohler
creation_date: 2013-06-04T03:04:56Z

[Term]
id: HP:0200096
name: Triangular-shaped open mouth
def: "A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle." [HPO:probinson]
synonym: "Triangular-shaped open mouth" EXACT layperson []
xref: UMLS:C1859292
is_a: HP:0000194 ! Open mouth
is_a: HP:0000207 ! Triangular mouth
created_by: sebastiankohler
creation_date: 2013-06-04T03:06:03Z

[Term]
id: HP:0200097
name: Oral mucosal blisters
def: "Blisters arising in the mouth." [HPO:probinson]
synonym: "Blebs of oral mucosa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Blisters of mouth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Bullae of oral mucosa" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Oral blistering" EXACT []
synonym: "Oral mucosa blisters" RELATED [HPO:skoehler]
synonym: "Oral mucosal blisters" EXACT layperson []
xref: UMLS:C0853945
is_a: HP:0008066 ! Abnormal blistering of the skin
is_a: HP:0011830 ! Abnormal oral mucosa morphology
created_by: sebastiankohler
creation_date: 2013-06-05T09:59:58Z

[Term]
id: HP:0200098
name: Absent skin pigmentation
def: "Lack of skin pigmentation (coloring)." [HPO:probinson]
synonym: "Absent skin pigmentation" EXACT layperson []
synonym: "Lack of skin coloration" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: UMLS:C2673954
is_a: HP:0001010 ! Hypopigmentation of the skin
created_by: sebastiankohler
creation_date: 2013-06-05T10:22:18Z

[Term]
id: HP:0200099
name: obsolete Peripheral retinal pigmentation abnormalities
is_obsolete: true
consider: HP:0007703
created_by: sebastiankohler
creation_date: 2013-06-05T10:24:46Z

[Term]
id: HP:0200101
name: Decreased/absent ankle reflexes
synonym: "Decreased or absent ankle reflexes" RELATED layperson [HPO:skoehler]
synonym: "Decreased/absent ankle reflexes" EXACT layperson []
xref: UMLS:C1850816
is_a: HP:0002522 ! Areflexia of lower limbs
created_by: sebastiankohler
creation_date: 2013-06-05T11:58:29Z

[Term]
id: HP:0200102
name: Sparse or absent eyelashes
synonym: "Partial to total absence of eyelashes" RELATED layperson [HPO:skoehler]
synonym: "Sparse or absent eyelashes" EXACT layperson []
synonym: "Sparse to absent eyelashes" RELATED layperson [HPO:skoehler]
xref: UMLS:C1835157
xref: UMLS:C1862855
xref: UMLS:C3551431
is_a: HP:0000499 ! Abnormal eyelash morphology
created_by: sebastiankohler
creation_date: 2013-06-05T12:03:01Z

[Term]
id: HP:0200104
name: Absent fifth fingernail
alt_id: HP:0011366
def: "Absence of nail of little finger." [HPO:probinson]
synonym: "Absent fifth fingernail" EXACT layperson []
synonym: "Absent nail of fifth finger" EXACT layperson []
xref: UMLS:C4020917
is_a: HP:0001817 ! Absent fingernail
created_by: sebastiankohler
creation_date: 2013-06-05T12:11:16Z

[Term]
id: HP:0200105
name: Absent fifth toenail
synonym: "Absent fifth toenail" EXACT layperson []
synonym: "Missing fifth toenail" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C4021892
is_a: HP:0001802 ! Absent toenail
created_by: sebastiankohler
creation_date: 2013-06-05T12:11:38Z

[Term]
id: HP:0200106
name: Absent/shortened dynein arms
xref: UMLS:C4021891
is_a: HP:0012255 ! Dynein arm defect of respiratory motile cilia
created_by: sebastiankohler
creation_date: 2013-06-05T12:14:18Z

[Term]
id: HP:0200107
name: Shortened inner dynein arms
xref: UMLS:C4021890
is_a: HP:0200106 ! Absent/shortened dynein arms
created_by: sebastiankohler
creation_date: 2013-06-05T12:14:49Z

[Term]
id: HP:0200108
name: Shortened outer dynein arms
xref: UMLS:C4021889
is_a: HP:0200106 ! Absent/shortened dynein arms
created_by: sebastiankohler
creation_date: 2013-06-05T12:15:10Z

[Term]
id: HP:0200109
name: Absent/shortened outer dynein arms
synonym: "Respiratory cilia have shortened or absent outer dynein arms" RELATED [HPO:skoehler]
xref: UMLS:C2750161
is_a: HP:0012256 ! Absent outer dynein arms
is_a: HP:0200108 ! Shortened outer dynein arms
created_by: sebastiankohler
creation_date: 2013-06-05T12:17:14Z

[Term]
id: HP:0200111
name: Absent stapes head
xref: UMLS:C4021888
is_a: HP:0008628 ! Abnormality of the stapes
created_by: sebastiankohler
creation_date: 2013-06-05T12:21:37Z

[Term]
id: HP:0200113
name: Aphalangy of hands and feet
synonym: "Aphalangy, hands and feet" RELATED [HPO:skoehler]
xref: UMLS:C4021887
is_a: HP:0005886 ! Aphalangy of the hands
is_a: HP:0009776 ! Adactyly
is_a: HP:0010745 ! Aplasia of the phalanges of the toes
created_by: sebastiankohler
creation_date: 2013-06-05T12:27:09Z

[Term]
id: HP:0200114
name: Metabolic alkalosis
xref: SNOMEDCT_US:1388004
xref: UMLS:C0220983
is_a: HP:0001948 ! Alkalosis
created_by: sebastiankohler
creation_date: 2013-06-05T12:33:28Z

[Term]
id: HP:0200116
name: Distal ileal atresia
xref: UMLS:C3279409
is_a: HP:0011102 ! Ileal atresia
created_by: sebastiankohler
creation_date: 2013-06-06T04:14:39Z

[Term]
id: HP:0200117
name: Recurrent upper and lower respiratory tract infections
def: "Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections." []
xref: UMLS:C1842777
is_a: HP:0002783 ! Recurrent lower respiratory tract infections
is_a: HP:0002788 ! Recurrent upper respiratory tract infections
created_by: sebastiankohler
creation_date: 2013-06-07T01:34:02Z

[Term]
id: HP:0200118
name: Malabsorption of Vitamin B12
synonym: "Malabsorption of cyanocobalamin" RELATED [HPO:skoehler]
synonym: "Vitamin B12 deficiency caused by intestinal malabsorption" RELATED [HPO:skoehler]
xref: UMLS:C0750292
xref: UMLS:C1850013
is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism
created_by: sebastiankohler
creation_date: 2013-06-11T11:04:49Z

[Term]
id: HP:0200119
name: Acute hepatitis
def: "Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver." [https://www.healthline.com/health/acute-hepatitis-c#acute-vs-chronic]
synonym: "Acute liver inflammation" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: SNOMEDCT_US:37871000
xref: UMLS:C0267797
is_a: HP:0012115 ! Hepatitis
created_by: sebastiankohler
creation_date: 2013-06-11T11:15:57Z

[Term]
id: HP:0200120
name: Chronic active hepatitis
def: "Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis." [PMID:7418593]
synonym: "Hepatitis, chronic active" RELATED [HPO:skoehler]
xref: MSH:D006521
xref: SNOMEDCT_US:197284004
xref: UMLS:C0520463
is_a: HP:0200123 ! Chronic hepatitis
created_by: sebastiankohler
creation_date: 2013-06-11T11:17:25Z

[Term]
id: HP:0200122
name: Atypical or prolonged hepatitis
synonym: "Atypical or prolonged liver inflammation" EXACT layperson [ORCID:0000-0001-6908-9849]
xref: UMLS:C1848456
is_a: HP:0012115 ! Hepatitis
created_by: sebastiankohler
creation_date: 2013-06-11T11:20:29Z

[Term]
id: HP:0200123
name: Chronic hepatitis
def: "Hepatitis that lasts for more than six months." [https://patient.info/doctor/chronic-hepatitis]
synonym: "Chronic liver inflammation" EXACT layperson [ORCID:0000-0001-5208-3432]
xref: MSH:D006521
xref: SNOMEDCT_US:76783007
xref: UMLS:C0019189
is_a: HP:0012115 ! Hepatitis
created_by: sebastiankohler
creation_date: 2013-06-11T11:20:53Z

[Term]
id: HP:0200124
name: Chronic hepatitis due to cryptosporidium infection
def: "Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue." [PMID:23440042]
synonym: "Hepatitis, chronic, due to cryptosporidium infection" RELATED [HPO:skoehler]
xref: UMLS:C3808820
is_a: HP:0200123 ! Chronic hepatitis
created_by: sebastiankohler
creation_date: 2013-06-11T11:21:21Z

[Term]
id: HP:0200125
name: Mitochondrial respiratory chain defects
xref: UMLS:C2751582
is_a: HP:0003287 ! Abnormality of mitochondrial metabolism
created_by: sebastiankohler
creation_date: 2013-06-11T11:22:52Z

[Term]
id: HP:0200126
name: obsolete Amyloid cardiomyopathy
is_obsolete: true
replaced_by: HP:0030843

[Term]
id: HP:0200127
name: Atrial cardiomyopathy
def: "Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations." [PMID:27402624]
xref: UMLS:C4021885
is_a: HP:0001638 ! Cardiomyopathy
created_by: sebastiankohler
creation_date: 2013-06-11T11:27:27Z

[Term]
id: HP:0200128
name: Biventricular hypertrophy
def: "Thickening of the heart walls in both ventricles." [PMID:28740584]
xref: UMLS:C0281788
is_a: HP:0001714 ! Ventricular hypertrophy
created_by: sebastiankohler
creation_date: 2013-06-11T11:28:46Z

[Term]
id: HP:0200129
name: obsolete Calcific mitral stenosis
is_obsolete: true
consider: HP:0001718

[Term]
id: HP:0200133
name: Lumbosacral meningocele
xref: UMLS:C2675557
is_a: HP:0100712 ! Abnormality of the lumbar spine
created_by: sebastiankohler
creation_date: 2013-06-11T03:59:35Z

[Term]
id: HP:0200134
name: Epileptic encephalopathy
xref: UMLS:C0543888
is_a: HP:0001298 ! Encephalopathy
created_by: sebastiankohler
creation_date: 2013-06-11T04:02:30Z

[Term]
id: HP:0200135
name: obsolete Macrocephaly due to hydrocephalus
is_obsolete: true

[Term]
id: HP:0200136
name: Oral-pharyngeal dysphagia
synonym: "Difficulty swallowing" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Oral pharyngeal dysphagia" EXACT [ORCID:0000-0001-5208-3432]
synonym: "Oropharyngeal dysphagia" EXACT [ORCID:0000-0001-5889-4463]
xref: MSH:D003680
xref: SNOMEDCT_US:71457002
xref: UMLS:C0267071
is_a: HP:0000600 ! Abnormality of the pharynx
is_a: HP:0002015 ! Dysphagia
created_by: sebastiankohler
creation_date: 2013-06-12T11:05:35Z

[Term]
id: HP:0200138
name: Bilateral choanal atresia/stenosis
xref: UMLS:C4021884
is_a: HP:0000452 ! Choanal stenosis
is_a: HP:0004502 ! Bilateral choanal atresia
created_by: sebastiankohler
creation_date: 2013-06-12T11:08:52Z

[Term]
id: HP:0200141
name: Small, conical teeth
synonym: "Conical microdontia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Small, cone shaped teeth" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Small, peg shaped teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Small, pointed teeth" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C1851883
xref: UMLS:C4280284
xref: UMLS:C4280285
is_a: HP:0000691 ! Microdontia
is_a: HP:0000698 ! Conical tooth
created_by: sebastiankohler
creation_date: 2013-06-13T11:59:54Z

[Term]
id: HP:0200143
name: Megaloblastic erythroid hyperplasia
synonym: "Bone marrow biopsy shows megaloblastic erythroid hyperplasia" RELATED [HPO:skoehler]
xref: UMLS:C1334688
xref: UMLS:C1850020
is_a: HP:0012132 ! Erythroid hyperplasia
created_by: sebastiankohler
creation_date: 2013-06-13T12:44:34Z

[Term]
id: HP:0200144
name: obsolete Anaphylactoid purpura
is_obsolete: true
consider: HP:0000979

[Term]
id: HP:0200146
name: Mucoid extracellular matrix accumulation
def: "An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.)." [PMID:27031798]
comment: MEMA replaces a variety of terms used in the past such as cystic medial necrosis, cystonecrosis, cystic degeneration, mucoid degeneration which, while generally understood by pathologists, are inaccurate. This histopathology can be subclassified and graded according to distribution, severity, and/or whether it crosses over multiple lamellar units as described. The grading should be reported as mild/moderate/severe and the distribution should be reported as focal, multifocal, or extensive.
synonym: "Cystic medial necrosis of the aorta" EXACT []
synonym: "MEMA" EXACT HP:0045077 []
xref: MSH:C536230
xref: SNOMEDCT_US:234021009
xref: SNOMEDCT_US:42182000
xref: SNOMEDCT_US:45894003
xref: UMLS:C0392775
is_a: HP:0012180 ! Cystic medial necrosis
is_a: HP:0032079 ! Medial degeneration
created_by: sebastiankohler
creation_date: 2013-06-13T12:55:22Z

[Term]
id: HP:0200147
name: Neuronal loss in basal ganglia
def: "A reduction in the number of nerve cells in the basal ganglia." [HPO:probinson, pmid:13729575]
comment: See Fig. 11 in pmid:13729575.
xref: UMLS:C2750913
is_a: HP:0002134 ! Abnormality of the basal ganglia
created_by: sebastiankohler
creation_date: 2013-06-13T12:59:06Z

[Term]
id: HP:0200148
name: Abnormal liver function tests during pregnancy
synonym: "Abnormal liver function tests during pregnancy" EXACT layperson []
synonym: "Abnormal liver function tests during pregnancy, resolves postpartum" RELATED [HPO:skoehler]
xref: UMLS:C2750654
xref: UMLS:C4021883
is_a: HP:0002910 ! Elevated hepatic transaminase
created_by: sebastiankohler
creation_date: 2013-06-13T01:01:21Z

[Term]
id: HP:0200149
name: CSF lymphocytic pleiocytosis
def: "An increased lymphocyte count in the cerebrospinal fluid." [KI:phemming]
synonym: "CSF lymphocytosis" EXACT []
xref: SNOMEDCT_US:167719009
xref: UMLS:C0427877
is_a: HP:0012229 ! CSF pleocytosis
created_by: sebastiankohler
creation_date: 2013-06-13T01:03:23Z

[Term]
id: HP:0200150
name: Increased serum bile acid concentration during pregnancy
synonym: "Increased serum bile acid concentration during pregnancy, resolves" RELATED [HPO:skoehler]
xref: UMLS:C4020695
xref: UMLS:C4021882
is_a: HP:0012202 ! Increased serum bile acid concentration
created_by: sebastiankohler
creation_date: 2013-06-13T01:05:40Z

[Term]
id: HP:0200151
name: Cutaneous mastocytosis
def: "Multifocal dense infiltrates of mast cells in cutaneous tissue." [HPO:probinson, PMID:21668033]
xref: MSH:D034701
xref: SNOMEDCT_US:397012002
xref: SNOMEDCT_US:703827008
xref: UMLS:C1136033
is_a: HP:0008069 ! Neoplasm of the skin
is_a: HP:0100495 ! Mastocytosis
created_by: sebastiankohler
creation_date: 2013-06-14T09:22:02Z

[Term]
id: HP:0200153
name: Agenesis of lateral incisor
synonym: "Absence of lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021881
xref: UMLS:C4227831
is_a: HP:0006485 ! Agenesis of incisor

[Term]
id: HP:0200154
name: Agenesis of mandibular lateral incisor
synonym: "Absence of lower lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing lower lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021880
xref: UMLS:C4280283
is_a: HP:0200153 ! Agenesis of lateral incisor
is_a: HP:0200161 ! Agenesis of mandibular incisor

[Term]
id: HP:0200158
name: Agenesis of permanent mandibular lateral incisor
synonym: "Absence of adult mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of permanent mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of permanent mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing adult lower lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing permanent mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021879
xref: UMLS:C4280282
is_a: HP:0200154 ! Agenesis of mandibular lateral incisor

[Term]
id: HP:0200159
name: Agenesis of primary mandibular lateral incisor
synonym: "Absence of deciduous mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of lower front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of primary mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of deciduous mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of deciduous mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of primary mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing deciduous mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Missing primary mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021878
xref: UMLS:C4280280
xref: UMLS:C4280281
is_a: HP:0200154 ! Agenesis of mandibular lateral incisor

[Term]
id: HP:0200160
name: Agenesis of maxillary incisor
synonym: "Absence of maxillary incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of upper front tooth" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of maxillary incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of upper incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing upper incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021877
xref: UMLS:C4280278
xref: UMLS:C4280279
is_a: HP:0006485 ! Agenesis of incisor

[Term]
id: HP:0200161
name: Agenesis of mandibular incisor
synonym: "Absence of lower front tooth" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of lower incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Absence of mandibular incisor" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Agenesis of lower incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Failure of development of mandibular incisor" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Missing lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Missing lower incisor" RELATED layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C3150012
xref: UMLS:C4021876
xref: UMLS:C4280277
is_a: HP:0006485 ! Agenesis of incisor

[Term]
id: HP:0400000
name: Tall chin
def: "Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin." [eom:96d8ca16a3c80216, pmid:19125436]
synonym: "Increased height of chin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased height of menton region" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Long chin" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Long lower third of face" RELATED layperson [ORCID:0000-0001-5889-4463]
synonym: "Tall chin" EXACT layperson []
synonym: "Vertical excess of chin" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical hyperplasia of chin" EXACT [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:471397004
xref: UMLS:C3532221
xref: UMLS:C4021875
is_a: HP:0000306 ! Abnormality of the chin

[Term]
id: HP:0400001
name: Chin with vertical crease
def: "Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest." [eom:8a5493c72e0dd13c, pmid:19125436]
comment: The vertical shape must be distinguished from H-shaped crease of the chin.
synonym: "Chin with vertical crease" EXACT layperson []
synonym: "Chin with vertical furrow" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Chin with vertical groove" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Chin with vertical sulcus" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Chin, vertical crease" EXACT []
synonym: "Cleft chin" EXACT layperson []
synonym: "Vertical chin skin cleft" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Vertical menton crease" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4020916
is_a: HP:0000306 ! Abnormality of the chin

[Term]
id: HP:0400002
name: Extra concha fold
def: "Folds or ridges within the concha that are distinct from the crus helix." [eom:40563f1f62db2319, pmid:19152421]
synonym: "Concha, Extra Fold" EXACT []
xref: UMLS:C4020915
is_a: HP:0000356 ! Abnormality of the outer ear

[Term]
id: HP:0400003
name: Focal absence of the external ear
def: "Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe)." [eom:5b0e213b31288acd, pmid:19152421]
xref: UMLS:C4021874
is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear

[Term]
id: HP:0400004
name: Long ear
def: "Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2028381d5c61842a, pmid:19152421]
comment: The commonly used term Macrotia is a bundled term comprising increased length and width (surface area).
synonym: "Long ear" EXACT layperson []
synonym: "Long ears" EXACT layperson [HPO:skoehler]
xref: UMLS:C1848657
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0400005
name: Short ear
def: "Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2cff5ac9b681fc73, pmid:19152421]
comment: The commonly used term Microtia is a bundled term comprising decreased length and width (surface area).
synonym: "Short ear" EXACT layperson []
synonym: "Short ears" EXACT layperson [HPO:skoehler]
xref: UMLS:C3551041
is_a: HP:0000377 ! Abnormality of the pinna

[Term]
id: HP:0400007
name: Polymenorrhea
def: "Frequent menses; menstrual cycles lasting less than 21 days." [pmid:22594864]
xref: MSH:D008599
xref: SNOMEDCT_US:52754008
xref: UMLS:C0032519
is_a: HP:0000140 ! Abnormality of the menstrual cycle

[Term]
id: HP:0400008
name: Menometrorrhagia
def: "Prolonged/excessive menses and bleeding at irregular intervals." [pmid:22594864]
xref: SNOMEDCT_US:314631008
xref: SNOMEDCT_US:351814001
xref: UMLS:C0232943
is_a: HP:0000140 ! Abnormality of the menstrual cycle

[Term]
id: HP:0410000
name: Abnormality of vomer
def: "An abnormality of the vomer." [GOC:NV]
synonym: "Abnormality of vomer bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Defect of vomer" EXACT []
xref: UMLS:C4020914
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0410003
name: Cleft maxillary alveolus
def: "Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine." []
comment: The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine
synonym: "Alveolar cleft" EXACT []
synonym: "Cleft alveolar process of maxilla" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Cleft anterior maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft primary palate" BROAD [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:109546001
xref: UMLS:C0432084
xref: UMLS:C4280276
is_a: HP:0000202 ! Oral cleft

[Term]
id: HP:0410004
name: obsolete Cleft secondary palate
is_obsolete: true
replaced_by: HP:0000175

[Term]
id: HP:0410005
name: Cleft hard palate
synonym: "Cleft bony palate" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Cleft of hard palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:448915004
xref: UMLS:C0432090
is_a: HP:0000175 ! Cleft palate

[Term]
id: HP:0410006
name: Abnormality of ophthalmic artery
def: "Abnormality of the first branch of the internal carotid artery." [ORCID:0000-0001-5889-4463]
comment: The ophthalmic artery (OA) is the first branch of the internal carotid artery distal to the cavernous sinus. Branches of the OA supply all the structures in the orbit as well as some structures in the nose, face and meninges.
synonym: "Ophthalmic artery anomaly" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073185
is_a: HP:3000062 ! Abnormal internal carotid artery morphology

[Term]
id: HP:0410007
name: Abnormality of cartilage morphology
def: "Any abnormality of cartilage." [ORCID:0000-0001-5208-3432]
xref: UMLS:C4073186
is_a: HP:0011842 ! Abnormality of skeletal morphology

[Term]
id: HP:0410008
name: Abnormality of the peripheral nervous system
def: "Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the peripheral nervous system" EXACT layperson []
xref: UMLS:C4073187
is_a: HP:0000707 ! Abnormality of the nervous system

[Term]
id: HP:0410009
name: Abnormality of the somatic nervous system
def: "Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements." [ORCID:0000-0001-5889-4463]
comment: The SoNS consists of afferent and efferent nerves. Afferent nerves are responsible for relaying sensation to the central nervous system; efferent nerves are responsible for stimulating muscle contraction, including all the non-sensory neurons connected with skeletal muscles and skin.
xref: UMLS:C4073188
is_a: HP:0410008 ! Abnormality of the peripheral nervous system

[Term]
id: HP:0410010
name: Abnormality of somatic nerve plexus
def: "Any abnormality of the somatic nerve plexus." [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073189
is_a: HP:0410009 ! Abnormality of the somatic nervous system

[Term]
id: HP:0410011
name: Abnormality of masticatory muscle
def: "Any abnormality of the masticatory muscle." [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of muscles of mastication" EXACT []
xref: UMLS:C4073190
is_a: HP:0045037 ! Abnormality of jaw muscles

[Term]
id: HP:0410012
name: Abnormal mouth floor morphology
def: "Any abnormality of the mouth floor." [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of the floor of mouth" EXACT layperson []
synonym: "Abnormality of the mouth floor" EXACT layperson []
xref: UMLS:C4073191
is_a: HP:0000163 ! Abnormal oral cavity morphology

[Term]
id: HP:0410013
name: Abnormality of the submandibular region
def: "Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery." [https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html, ORCID:0000-0001-5208-3432]
xref: UMLS:C4073192
is_a: HP:0000271 ! Abnormality of the face

[Term]
id: HP:0410014
name: Abnormality of ganglion
def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]
xref: UMLS:C4073193
is_a: HP:0000707 ! Abnormality of the nervous system

[Term]
id: HP:0410015
name: Abnormality of ganglion of peripheral nervous system
def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]
xref: UMLS:C4073194
is_a: HP:0410014 ! Abnormality of ganglion

[Term]
id: HP:0410016
name: Abnormality of cranial ganglion
def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]
xref: UMLS:C4073195
is_a: HP:0410014 ! Abnormality of ganglion

[Term]
id: HP:0410017
name: Otitis externa
def: "Inflammation or infection of the external auditory canal (EAC), the auricle, or both." [http://search.medscape.com/search/?q=otitis%20externa, ORCID:0000-0001-5208-3432]
synonym: "Swimmer's ear" EXACT layperson []
is_a: HP:0000372 ! Abnormality of the auditory canal

[Term]
id: HP:0410018
name: Recurrent ear infections
def: "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections." [ORCID:0000-0001-5208-3432]
synonym: "Frequent ear infections" EXACT layperson []
synonym: "Recurrent ear infections" EXACT layperson []
is_a: HP:0002719 ! Recurrent infections

[Term]
id: HP:0410019
name: Epigastric pain
def: "Pain that is localized to the region of the upper abdomen immediately below the ribs." [https://www.healthgrades.com/symptoms/epigastric-pain, ORCID:0000-0001-5208-3432]
synonym: "Epigastrium pain" EXACT []
is_a: HP:0012531 ! Pain

[Term]
id: HP:0410020
name: Fish odor
def: "Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals." [http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm]
synonym: "Fish odour" EXACT layperson []
synonym: "Fishy body odor" EXACT [HPO:skoehler]
synonym: "Fishy odor" EXACT layperson []
is_a: HP:0500001 ! Body odor

[Term]
id: HP:0410021
name: Musty odor
def: "Pungent body odor." []
synonym: "Musty odor" EXACT layperson []
synonym: "Musty odour" EXACT layperson []
is_a: HP:0500001 ! Body odor

[Term]
id: HP:0410022
name: Vaginal fish odor
def: "A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA)." [PMID:16086821]
synonym: "Vaginal fish odor" EXACT layperson []
synonym: "Vaginal fish odour" EXACT layperson []
is_a: HP:0410020 ! Fish odor

[Term]
id: HP:0410023
name: Abnormal distribution of cell junction proteins in buccal mucosal cells
def: "An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43." [PMCID:PMC4785796]
comment: Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy.
is_a: HP:0031476 ! Abnormal buccal mucosa cell morphology
is_a: HP:3000019 ! Abnormality of buccal mucosa
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410026
name: Abnormality of the periodontium
def: "Any abnormality of the periodontium." []
is_a: HP:0000164 ! Abnormality of the dentition
property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:40:50Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410027
name: Alveolar bone loss around teeth
def: "A decrease in the amount of alveolar bone around the root of a tooth." []
synonym: "Bone loss around teeth" EXACT []
is_a: HP:0410026 ! Abnormality of the periodontium
property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:41:41Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410028
name: Recurrent oral herpes
def: "Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus." []
synonym: "Recurrent herpes labialis" EXACT []
is_a: HP:0005353 ! Recurrent herpes
property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:46:19Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410030
name: Cleft lip
def: "A gap in the lip or lips." []
synonym: "Cleft lip" EXACT layperson []
synonym: "Cleft of the lip" EXACT []
is_a: HP:0000202 ! Oral cleft
property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T22:17:35Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410031
name: Submucous cleft of soft and hard palate
def: "Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth." [http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/]
is_a: HP:0000175 ! Cleft palate
property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:09:33Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410032
name: Cleft of uvula
def: "A split or cleft in the uvula resulting from incomplete fusion of the palatine shelves." [https://en.wikipedia.org/wiki/Palatine_uvula]
is_a: HP:0000185 ! Cleft soft palate
property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:30:00Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410033
name: Unilateral alveolar cleft of maxilla
def: "One sided alveolar cleft of the maxilla." []
is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla
property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:37:01Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410034
name: Bilateral alveolar cleft of maxilla
def: "Nonmidline alveolar cleft of the maxilla." []
is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla
property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:37:09Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410035
name: Abnormal T cell activation
def: "Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." []
synonym: "Abnormal T lymphocyte activation" EXACT []
synonym: "Abnormal T-cell activation" EXACT []
synonym: "Abnormal T-lymphocyte activation" EXACT []
is_a: HP:0011840 ! Abnormality of T cell physiology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-22T19:07:54Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410042
name: Abnormal liver morphology
def: "Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage." [MP:0000598]
xref: Fyler:4447
is_a: HP:0001392 ! Abnormality of the liver
property_value: http://purl.org/dc/elements/1.1/date 2017-09-20T00:22:53Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410043
name: Abnormal neural tube morphology
def: "Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)." [MP:0002151]
xref: Fyler:4339
is_a: HP:0002011 ! Morphological abnormality of the central nervous system
property_value: http://purl.org/dc/elements/1.1/date 2017-09-20T00:25:37Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410049
name: Abnormality of radial ray
comment: An abnormality of the radial ray; the thumb bones and 1st meta carpel. {xref="ORCID:0000-0002-9353-5498"}
synonym: "Deformity of radial ray" EXACT []
synonym: "Radial ray abnormality" EXACT []
synonym: "Radial ray anomaly" EXACT []
synonym: "Radial ray deformity" EXACT []
is_a: HP:0002813 ! Abnormality of limb bone morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-10-16T20:21:52Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410050
name: Decreased level of 1,5 anhydroglucitol in serum
def: "A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues." [PMID:16731998, PMID:17659063, PMID:9357814]
synonym: "Decreased level of 1,5-AG in serum" EXACT [http://www.hmdb.ca/metabolites/HMDB0002712]
synonym: "Decreased level of 1,5-anhydro-D-glucitol in serum" EXACT []
synonym: "Decreased level of 1,5-anhydroglucitol in serum" EXACT [http://www.hmdb.ca/metabolites/HMDB0002712]
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T00:26:24Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410051
name: Increased level of 3-hydroxy-3-methylglutaric acid in urine
synonym: "An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine." EXACT [PMID:15505778, PMID:23705938]
is_a: HP:0003215 ! Dicarboxylic aciduria
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:26:32Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410052
name: Increased level of allantoin in serum
def: "An increase in the level of allantoin in the serum." [PMID:18636793]
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:42:36Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410053
name: Increased level of GABA in serum
def: "An increase in the level of GABA in the serum." [PMID:1485027]
synonym: "Increased level of gamma-aminobutyric acid in serum" EXACT []
is_a: HP:0003112 ! Abnormality of serum amino acid level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:56:05Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410054
name: Decreased level of GABA in serum
def: "A decrease in the level of GABA in the serum." [PMID:1485027]
synonym: "Decreased level of gamma-aminobutyric acid in serum" EXACT []
is_a: HP:0003112 ! Abnormality of serum amino acid level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:56:12Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410055
name: Decreased level of erythritol in urine
def: "A decrease in the level of erythritol in the urine." [PMID:14988808]
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:15:00Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410056
name: Decreased level of erythritol in CSF
def: "A decrease in the level of erythritol in the cerebrospinal fluid." [PMID:14988808]
synonym: "Decreased level of erythritol in cerebrospinal fluid" EXACT []
is_a: HP:0025454 ! Abnormal CSF metabolite level
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:15:08Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410057
name: Increased level of D-threitol in plasma
def: "An increase in the level of D-threitol in the plasma." [PMID:14988808]
comment: D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans.
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:34Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410058
name: Increased level of D-threitol in CSF
def: "An increase in the level of D-threitol in the cerebrospinal fluid." [PMID:14988808]
comment: D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans.
synonym: "Increased level of D-threitol in cerebrospinal fluid" EXACT []
is_a: HP:0025454 ! Abnormal CSF metabolite level
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:44Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410059
name: Increased level of D-threitol in urine
def: "An increase in the level of D-threitol in the urine." [PMID:14988808]
comment: D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans.
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:50Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410060
name: Decreased level of D-mannose in urine
def: "A decrease in the level of D-mannose in the urine." [PMID:2576290, PMID:29099052]
comment: D-Mannose is the 2-epimer of glucose.
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:01:57Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410061
name: Increased level of galactitol in plasma
def: "An increase in the level of galactitol in the plasma." [PMID:11092512, PMID:7671965]
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:37:31Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410062
name: Increased level of galactitol in urine
def: "An increase in the level of galactitol in the urine." [PMID:11092512, PMID:7671965]
comment: Galactitol is the reduction product of galactose.
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:38:29Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410063
name: Increased level of galactonate in red blood cells
def: "An increase in the level of galactonate in the red blood cells." [PMID:14680973]
synonym: "Increased level of galactonate in erythrocytes" EXACT []
synonym: "Increased level of galactonate in RBCs" EXACT HP:0045077 []
is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:39:38Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410064
name: Increased level of galactitol in red blood cells
def: "An increase in the level of galactitol in the red blood cells." [PMID:14680973]
synonym: "Increased level of galactitol in erythrocytes" EXACT []
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:40:39Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410065
name: Increased level of hippuric acid in blood
def: "An increase in the level of hippuric acid in the blood." [PMID:22626821]
synonym: "Increased level of N-benzoylglycine in blood" EXACT []
is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:41:34Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410066
name: Increased level of hippuric acid in urine
def: "An increase in the level of hippuric acid in the urine." [PMID:19551947, PMID:22626821]
synonym: "Increased level of N-benzoylglycine in urine" EXACT []
is_a: HP:0031980 ! Abnormal urine carboxylic acid level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:42:45Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410067
name: Increased level of L-fucose in urine
def: "An increase in the level of L-fucose in the urine." [PMID:2311216]
comment: Fucose is a hexose deoxy sugar with the chemical formula C6H12O5.
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:55:21Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410068
name: Increased level of L-glutamic acid in blood
def: "An increase in the level of L-glutamic acid in the blood." [PMID:7623444]
is_a: HP:0500148 ! Abnormal circulating glutamate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:56:49Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410069
name: Increased level of propylene glycol in blood
def: "An increase in the level of propylene glycol in the blood." [PMID:3426740]
synonym: "Increased level of propane-1,2-diol in blood" EXACT []
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:57:39Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410070
name: Increased level of ribitol in urine
def: "An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose." [PMID:14988808, PMID:26054712]
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:58:41Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410071
name: Increased level of ribitol in CSF
def: "An increase in the level of ribitol in the cerebral spinal fluid." [PMID:14988808]
synonym: "Increased level of ribitol in cerebrospinal fluid" EXACT []
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:59:19Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410072
name: Increased level of ribose in urine
def: "An increase in the level of ribose in the urine." [PMID:14988808]
comment: Ribose is a pentose monosaccharide.
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:47:12Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410073
name: Increased level of ribose in CSF
def: "An increase in the level of ribose in the cerebrospinal fluid." [PMID:14988808]
synonym: "Increased level of ribose in cerebrospinal fluid" EXACT []
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:47:46Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410074
name: Increased level of xylitol in urine
def: "An increase in the level of xylitol in the urine." [PMID:14988808]
is_a: HP:0031979 ! Abnormal urine carbohydrate level
property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:49:41Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410075
name: Increased level of xylitol in CSF
def: "An increase in the level of xylitol in the cerebrospinal fluid." [PMID:14988808]
synonym: "Increased level of xylitol in cerebrospinal fluid" EXACT []
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:50:08Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410132
name: Increased level of L-pyroglutamic acid in urine
def: "An increase in the level of L-pyroglutamic acid in the urine." [PMID:10094443, PMID:4557757]
synonym: "Increased level of 5-oxo-L-proline in urine" EXACT []
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2018-02-22T18:07:36Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410133
name: Chronic idiopathic urticaria
def: "Urticaria characterized by spontaneously recurring hives for 6 weeks or longer." [PMID:25807072]
synonym: "Chronic spontaneous urticaria" EXACT [PMID:25807072]
synonym: "CIU" EXACT HP:0045077 [PMID:25807072]
synonym: "CSU" EXACT HP:0045077 [PMID:25807072]
is_a: HP:0001025 ! Urticaria
property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:33:51Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410134
name: Physical urticaria
def: "Urticaria caused by physical agents, such as heat, cold, light, friction." [PMID:11702618]
is_a: HP:0001025 ! Urticaria
property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:37:30Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410135
name: Cold urticaria
def: "Urticaria may be caused by cold temperatures." [PMID:11702618]
is_a: HP:0410134 ! Physical urticaria
property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:45:27Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410136
name: Aquagenic urticaria
def: "A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin." [PMID:22346281]
is_a: HP:0410134 ! Physical urticaria
property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:52:44Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410137
name: Solar urticaria
def: "Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light." [PMID:29315482]
is_a: HP:0000992 ! Cutaneous photosensitivity
is_a: HP:0410134 ! Physical urticaria
property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:07:52Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410138
name: Vibratory urticaria
def: "Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." [PMID:26841242]
is_a: HP:0410134 ! Physical urticaria
property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:14:35Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410139
name: Exercise induced anaphylaxis
def: "Anaphylaxis after physical activity." [PMID:7400473]
is_a: HP:0100845 ! Anaphylactic shock
property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:22:59Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410144
name: Abnormal biotinidase activity
def: "An abnormality in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation." [PMID:29359854]
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T20:12:17Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410145
name: Decreased biotinidase activity
def: "A decrease in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation." [PMID:29359854]
is_a: HP:0410144 ! Abnormal biotinidase activity
property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T20:14:33Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410146
name: Increased biotinidase activity
def: "An increase in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation." [PMID:29359854]
is_a: HP:0410144 ! Abnormal biotinidase activity
property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T20:15:15Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410147
name: Eosinophilic infiltration in the stomach mucosa
def: "Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia." [orcid.org/0000-0001-5208-3432, PMID:23904840]
synonym: "Eosinophilic gastritis" EXACT []
is_a: HP:0005263 ! Gastritis
is_a: HP:0032064 ! Gastrointestinal eosinophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T20:54:48Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410148
name: Idiopathic anaphylaxis
def: "A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment." [PMID:28890861]
is_a: HP:0100845 ! Anaphylactic shock
property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T21:12:08Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410149
name: Drug-induced anaphylaxis
def: "A form of anaphylaxis that is triggered by intake of drugs or medications." [PMID:29135486]
synonym: "Drug induced anaphylaxis" EXACT []
is_a: HP:0100845 ! Anaphylactic shock
property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T21:33:42Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410151
name: Eosinophilic infiltration of the esophagus
def: "Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus." [PMID:27158535]
synonym: "Eosinophilic infiltration of the oesophagus" EXACT []
is_a: HP:0032064 ! Gastrointestinal eosinophilia
is_a: HP:0100633 ! Esophagitis
property_value: http://purl.org/dc/elements/1.1/date 2018-03-13T04:36:03Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410152
name: Eosinophilic microabscess formation in the esophagus
def: "The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques." [PMID:27158535]
synonym: "Eosinophilic micro-abscess formation in the esophagus" EXACT []
synonym: "Eosinophilic microabscess formation in the oesophagus" EXACT []
is_a: HP:0100633 ! Esophagitis
property_value: http://purl.org/dc/elements/1.1/date 2018-03-13T04:43:53Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410153
name: Increased level of methylsuccinic acid in urine
def: "An increase in the level of methylsuccinic acid in the urine." [PMID:16828325, PMID:19343532, PMID:3571488, PMID:6616873]
synonym: "Increased level of pyrotartaric acid in urine" EXACT [PMID:16828325, PMID:19343532, PMID:3571488, PMID:6616873]
is_a: HP:0003215 ! Dicarboxylic aciduria
property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T21:49:40Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410154
name: Increased level of myristic acid in serum
def: "An increase in the level of myristic acid in the serum." [PMID:22024767]
synonym: "Increased level of tetradecanoic acid in serum" EXACT []
is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid cocentration
property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T21:58:16Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410156
name: Increased level of N-acetylneuraminic acid in urine
def: "An increase in the level of N-acetylneuraminic acid in the urine." [PMID:7398077]
synonym: "Increased level of NANA in urine" EXACT []
synonym: "Increased level of Neu5Ac in urine" EXACT []
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-03-28T00:27:38Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410157
name: Increased level of N-acetylneuraminic acid in fibroblasts
def: "An increase in the level of N-acetylneuraminic acid in cultured fibroblasts." [PMID:11992753]
synonym: "Increased level of NANA in fibroblasts" EXACT []
synonym: "Increased level of Neu5Ac in fibroblasts" EXACT []
synonym: "Increased level of sialic acid in fibroblasts" EXACT []
is_a: HP:0032243 ! Abnormal tissue metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-03-28T19:40:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410158
name: Increased level of O-phosphoethanolamine in urine
def: "An increase in the level of O-phosphoethanolamine in the urine." [PMID:23093139]
synonym: "Increased level of ALPL in urine" EXACT []
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-03-28T19:43:27Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410166
name: Defective interstrand cross-link repair
def: "A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication." [GO:0036297, PMID:16464006, PMID:22064477]
is_a: HP:0003254 ! Abnormality of DNA repair
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T17:32:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410167
name: Abnormality of the chest musculature
def: "Any abnormality of the chest muscles." []
synonym: "Muscle issues in the chest" BROAD layperson []
is_a: HP:0003011 ! Abnormality of the musculature
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T17:37:03Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410168
name: Abnormality of the back musculature
def: "Any abnormality of the back muscles." []
synonym: "Muscle issues in the back" BROAD layperson []
is_a: HP:0003011 ! Abnormality of the musculature
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T17:38:59Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410169
name: Abnormality of the shoulder musculature
def: "Any abnormality of the shoulder muscles." []
synonym: "Muscle issues in the shoulder" EXACT layperson []
is_a: HP:0003011 ! Abnormality of the musculature
property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T17:39:54Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410170
name: Hippocampal atrophy
def: "Partial or complete wasting (loss) of hippocampus tissue that was once present." []
synonym: "Atrophy of the hippocampus" EXACT []
synonym: "Degeneration of the hippocampus" EXACT []
is_a: HP:0025100 ! Abnormal morphology of the hippocampus
property_value: http://purl.org/dc/elements/1.1/date 2018-05-07T18:29:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410171
name: Increased cotinine level
def: "Increased concentration of cotinine in urine." []
comment: Cotinine is the main metabolite of nicotine and accumulates in the body as a result of tobacco exposure. In humans, cotinine is excreted in the urine, mainly as trans-3[prime]-hydroxycotinine and glucuronide. This is used as a measure for exposure to tobacco smoke.
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-18T17:47:54Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410172
name: Blood xenobiotic
def: "The presence of a xenobiotic in blood." []
is_a: HP:0031838 ! Presence of xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-18T18:31:08Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410173
name: Increased troponin I level in blood
def: "An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction." []
is_a: HP:0500020 ! Abnormal cardiac biomarker test
property_value: http://purl.org/dc/elements/1.1/date 2018-05-18T20:20:47Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410174
name: Increased troponin T level in blood
def: "An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction." [PMID:15452153]
is_a: HP:0500020 ! Abnormal cardiac biomarker test
property_value: http://purl.org/dc/elements/1.1/date 2018-05-18T20:21:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410175
name: Hyperketonemia
def: "An increase in the level of ketone bodies in the blood." [PMID:27036365]
synonym: "Increased level of ketone bodies in blood" EXACT layperson []
synonym: "Ketonemia" EXACT []
is_a: HP:0001946 ! Ketosis
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:36:23Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410176
name: Abnormal glucose-6-phosphate dehydrogenase level
def: "An anomaly in the level of glucose-6-phosphate dehydrogenase." []
synonym: "Abnormal G6PD level" EXACT HP:0045077 []
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:49:08Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410177
name: Abnormal glucose-6-phosphate dehydrogenase level in blood
def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood." [PMID:24787449]
synonym: "Abnormal G6PD level in blood" EXACT HP:0045077 []
is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:54:53Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410178
name: Increased glucose-6-phosphate dehydrogenase level in blood
def: "An increase in the level of glucose-6-phosphate dehydrogenase in the blood." []
synonym: "Increased G6PD level in blood" EXACT HP:0045077 []
is_a: HP:0410177 ! Abnormal glucose-6-phosphate dehydrogenase level in blood
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:55:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410179
name: Decreased glucose-6-phosphate dehydrogenase level in blood
def: "A decrease in the level of glucose-6-phosphate dehydrogenase in the blood." [PMID:24787449]
synonym: "Decreased G6PD level in blood" EXACT HP:0045077 []
is_a: HP:0410177 ! Abnormal glucose-6-phosphate dehydrogenase level in blood
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:55:41Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410180
name: Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot
def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot." [PMID:28479150]
synonym: "Abnormal G6PD level in dried blood spot" EXACT HP:0045077 []
synonym: "Abnormal glucose-6-phosphate dehydrogenase level in DBS" EXACT []
is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:57:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410181
name: Increased glucose-6-phosphate dehydrogenase level in dried blood spot
def: "An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot." [PMID:28479150]
synonym: "Increased G6PD level in dried blood spot" EXACT HP:0045077 []
synonym: "Increased glucose-6-phosphate dehydrogenase level in DBS" EXACT []
is_a: HP:0410180 ! Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:58:20Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410182
name: Decreased glucose-6-phosphate dehydrogenase level in dried blood spot
def: "A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot." [PMID:28479150]
synonym: "Decreased G6PD level in dried blood spot" EXACT HP:0045077 []
synonym: "Decreased glucose-6-phosphate dehydrogenase level in DBS" EXACT []
is_a: HP:0410180 ! Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:58:29Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410183
name: Abnormal glucose-6-phosphate dehydrogenase level in leukocytes
def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes." [https://doi.org/10.1016/B978-0-12-383834-6.00086-0]
synonym: "Abnormal G6PD level in leukocytes" EXACT HP:0045077 []
is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:00:54Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410184
name: Abnormal glucose-6-phosphate dehydrogenase level in red blood cells
def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells." [PMID:18942156]
synonym: "Abnormal G6PD level in RBCs" EXACT HP:0045077 []
synonym: "Abnormal G6PD level in red blood cells" EXACT HP:0045077 []
is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:01:06Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410185
name: Abnormal glucose-6-phosphate dehydrogenase level in tissue
def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue." []
synonym: "Abnormal G6PD level in tissue" EXACT HP:0045077 []
is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:01:15Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410186
name: Increased glucose-6-phosphate dehydrogenase level in tissue
def: "An increase in the level of glucose-6-phosphate dehydrogenase in tissue." []
synonym: "Increased G6PD level in tissue" EXACT HP:0045077 []
is_a: HP:0410185 ! Abnormal glucose-6-phosphate dehydrogenase level in tissue
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:03:24Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410187
name: Decreased glucose-6-phosphate dehydrogenase level in tissue
def: "A decrease in the level of glucose-6-phosphate dehydrogenase in tissue." []
synonym: "Decreased G6PD level in tissue" EXACT HP:0045077 []
is_a: HP:0410185 ! Abnormal glucose-6-phosphate dehydrogenase level in tissue
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:03:29Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410188
name: Decreased glucose-6-phosphate dehydrogenase level in red blood cells
def: "A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells." [PMID:18942156]
synonym: "Decreased G6PD level in RBCs" EXACT HP:0045077 []
synonym: "Decreased G6PD level in red blood cells" EXACT HP:0045077 []
is_a: HP:0410184 ! Abnormal glucose-6-phosphate dehydrogenase level in red blood cells
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:03:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410189
name: Increased glucose-6-phosphate dehydrogenase level in red blood cells
def: "An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells." []
synonym: "Increased G6PD level in RBCs" EXACT HP:0045077 []
synonym: "Increased G6PD level in red blood cells" EXACT HP:0045077 []
is_a: HP:0410184 ! Abnormal glucose-6-phosphate dehydrogenase level in red blood cells
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:03:42Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410190
name: Decreased glucose-6-phosphate dehydrogenase level in leukocytes
def: "A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes." [https://doi.org/10.1016/B978-0-12-383834-6.00086-0]
synonym: "Decreased G6PD level in leukocytes" EXACT HP:0045077 []
is_a: HP:0410183 ! Abnormal glucose-6-phosphate dehydrogenase level in leukocytes
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:04:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410191
name: Increased glucose-6-phosphate dehydrogenase level in leukocytes
def: "An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes." []
synonym: "Increased G6PD level in leukocytes" EXACT HP:0045077 []
is_a: HP:0410183 ! Abnormal glucose-6-phosphate dehydrogenase level in leukocytes
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:04:08Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410192
name: Abnormal uridine diphosphate glucose-4-epimerase activity
def: "An abnormality in uridine diphosphate glucose-4-epimerase activity, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose." []
synonym: "Abnormal UDP-glucose 4-epimerase activity activity" EXACT []
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:22:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410193
name: Abnormal uridine diphosphate glucose-4-epimerase activity in plasma
def: "An abnormality in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." []
synonym: "Abnormal UDP-glucose 4-epimerase activity activity in plasma" EXACT []
is_a: HP:0410192 ! Abnormal uridine diphosphate glucose-4-epimerase activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:23:41Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410194
name: Increased uridine diphosphate glucose-4-epimerase activity in plasma
def: "An increase in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." []
synonym: "Increased UDP-glucose 4-epimerase activity activity in plasma" EXACT []
is_a: HP:0410193 ! Abnormal uridine diphosphate glucose-4-epimerase activity in plasma
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:23:47Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410195
name: Decreased uridine diphosphate glucose-4-epimerase activity in plasma
def: "A decrease in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." []
synonym: "Decreased UDP-glucose 4-epimerase activity activity in plasma" EXACT []
is_a: HP:0410193 ! Abnormal uridine diphosphate glucose-4-epimerase activity in plasma
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:23:54Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410196
name: Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells
def: "An abnormality in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." []
synonym: "Abnormal UDP-glucose 4-epimerase activity activity in RBCs" EXACT HP:0045077 []
synonym: "Abnormal UDP-glucose 4-epimerase activity activity in red blood cells" EXACT HP:0045077 []
is_a: HP:0410192 ! Abnormal uridine diphosphate glucose-4-epimerase activity
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:24:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410197
name: Increased uridine diphosphate glucose-4-epimerase activity in red blood cells
def: "An increase in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." []
synonym: "Increased UDP-glucose 4-epimerase activity activity in RBCs" EXACT HP:0045077 []
synonym: "Increased UDP-glucose 4-epimerase activity activity in red blood cells" EXACT HP:0045077 []
is_a: HP:0410196 ! Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:24:12Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410198
name: Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells
def: "A decrease in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." []
synonym: "Decreased UDP-glucose 4-epimerase activity activity in RBCs" EXACT HP:0045077 []
synonym: "Decreased UDP-glucose 4-epimerase activity activity in red blood cells" EXACT HP:0045077 []
is_a: HP:0410196 ! Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:24:19Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410199
name: Increased CSF urate concentration
def: "Increased concentration of urate in the cerebrospinal fluid." []
synonym: "Elevated CSF urate concentration" EXACT HP:0045077 []
synonym: "Increased cerebrospinal fluid urate" EXACT []
is_a: HP:0500117 ! Abnormal CSF urate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T22:56:41Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410200
name: Positive meconium barbiturate test
def: "Detection of barbiturate metabolites such as phenobarbital in meconium." []
is_a: HP:0500098 ! Meconium xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T23:02:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410201
name: Positive hair barbiturate test
def: "Detection of barbiturate metabolites such as phenobarbital in the hair." []
is_a: HP:0500099 ! Hair xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T23:03:14Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410202
name: Positive stool barbiturate test
def: "Detection of barbiturate metabolites such as phenobarbital in the stool." []
is_a: HP:0500097 ! Stool xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T23:04:11Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410203
name: Positive gastric fluid barbiturate test
def: "Detection of barbiturate metabolites such as phenobarbital in the gastric fluid." []
is_a: HP:0500101 ! Gastric fluid xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T23:04:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410204
name: Increased intestinal transit time
def: "An increase in the length of time required for food to pass through the intestines." [PMID:22206545]
is_a: HP:0030896 ! Abnormal gastrointestinal transit time
property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T02:19:44Z xsd:dateTime
created_by: ORCID:0000-0001-5208-3432

[Term]
id: HP:0410205
name: Abnormal circulating nicotinurate level
def: "Any deviation from the normal concentration of nicotinurate in the blood." []
comment: Nicotinuric acid is an acyl glycine, which are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Nicotinuric acid is the major detoxification product of nicotinic acid. It may serve as a simple quantitative index of hepatic biotransformation of nicotinic acid. {xref="PMID:3243933"}
synonym: "Abnormal circulating N-nicotinoylglycine level" EXACT []
is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-09-11T23:40:08Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410206
name: Increased circulating nicotinurate level
def: "An increased amount of nicotinurate in the blood." []
synonym: "Increased circulating N-nicotinoylglycine level" EXACT []
is_a: HP:0410205 ! Abnormal circulating nicotinurate level
property_value: http://purl.org/dc/elements/1.1/date 2018-09-11T23:40:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410207
name: Positive methadone plasma/serum test
def: "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum." []
comment: Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency.
is_a: HP:0500100 ! Plasma/serum xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-09-11T23:47:39Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410208
name: Positive plasma/serum cotinine test
def: "Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum." [PMID:10027825]
comment: Cotinine is used as a biomarker for exposure to tobacco smoke.
is_a: HP:0500100 ! Plasma/serum xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-09-11T23:57:25Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410209
name: Folate deficiency in CSF
def: "A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid." [PMID:15581159]
comment: Cerebral folate deficiency is usually measured as low levels of folate in the CSF, in the presence of normal folate metabolism outside the nervous system.
synonym: "Folate deficiency in cerebrospinal fluid" EXACT []
is_a: HP:0012335 ! Abnormality of folate metabolism
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:12:26Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410210
name: Abnormal cord blood measurement
def: "An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level." [PMID:7926229]
is_a: HP:0010881 ! Abnormality of the umbilical cord
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:35:41Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410211
name: Abnormal blood gas level in cord blood
is_a: HP:0410210 ! Abnormal cord blood measurement
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:12Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410212
name: Hyperoxemia in cord blood
def: "An abnormally high level of blood oxygen in the cord blood." []
synonym: "High cord blood oxygen level" EXACT layperson []
is_a: HP:0410211 ! Abnormal blood gas level in cord blood
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:20Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410213
name: Hypoxemia in cord blood
def: "An abnormally low level of blood oxygen in the cord blood." []
synonym: "Low cord blood oxygen level" EXACT layperson []
is_a: HP:0410211 ! Abnormal blood gas level in cord blood
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:25Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410214
name: Hypercapnia in cord blood
def: "Abnormally elevated blood carbon dioxide (CO2) level in the cord blood." []
synonym: "High cord blood carbon dioxide level" EXACT layperson []
is_a: HP:0410211 ! Abnormal blood gas level in cord blood
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410215
name: Hypocapnia in cord blood
def: "Abnormally decreased blood carbon dioxide (CO2) level in the cord blood." []
synonym: "Low cord blood carbon dioxide level" EXACT layperson []
is_a: HP:0410211 ! Abnormal blood gas level in cord blood
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:35Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410216
name: Abnormal blood 5-methyltetrahydrofolate level
def: "An abnormal concentration of 5-methyltetrahydrofolate in the blood." []
is_a: HP:0012335 ! Abnormality of folate metabolism
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:50:35Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410217
name: Reduced blood 5-methyltetrahydrofolate level
def: "A decreased concentration of 5-methyltetrahydrofolate in the blood." []
is_a: HP:0410216 ! Abnormal blood 5-methyltetrahydrofolate level
property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:51:49Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410218
name: Hypoplasia of maxilla relative to mandible
def: "Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw)." [https://orcid.org/0000-0001-5889-4463, https://www.researchgate.net/publication/277918795_Nonsyndromic_oligodontia_A_rare_case_report]
synonym: "Disorder of maxillary and mandibular dental arch relationship" EXACT []
is_a: HP:0000327 ! Hypoplasia of the maxilla
property_value: http://purl.org/dc/elements/1.1/date 2018-09-25T00:46:15Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410219
name: Hypoplasia of mandible relative to maxilla
def: "Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw)." [https://orcid.org/0000-0001-5889-4463]
synonym: "Disorder of mandibular and maxillary dental arch relationship" EXACT []
is_a: HP:0000347 ! Micrognathia
property_value: http://purl.org/dc/elements/1.1/date 2018-09-25T00:54:14Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410220
name: Increased anti-dairy protein IgE antibody level
def: "Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products." [PMID:26433529]
synonym: "Increased anti-dairy IgE antibody level" RELATED []
is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:47:11Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410221
name: Increased anti-animal protein IgE antibody level
def: "Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine." [PMID:8543754]
comment: For animal dander annotations, there is a more specific subclass of this term.
synonym: "Increased level of anti-animal protein IgE antibody" EXACT []
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:51:13Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410222
name: Increased anti-seafood IgE antibody level
def: "Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone." [PMID:14719162]
synonym: "Increased level of anti-seafood IgE antibody" EXACT []
is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:51:45Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410223
name: Increased anti-dust mite IgE antibody level
def: "Increased level of IgE antibody against dust mites, such as house dust mites." [https://www.atsjournals.org/doi/abs/10.1164/arrd.1982.125.1.80]
synonym: "Increased level of anti-dust mite IgE antibody" EXACT []
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:52:07Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410224
name: Increased anti-bacteria IgE antibody level
def: "Increased level of IgE antibody against bacteria." []
synonym: "Increased level of anti-bacteria IgE antibody" EXACT []
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:52:57Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410225
name: Increased anti-drug IgE antibody level
def: "Increased level of IgE antibody against a drug or class of drugs, such as antibiotics." [PMID:7835691]
synonym: "Increased level of anti-drug IgE antibody" EXACT []
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T18:09:35Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410226
name: Increased anti-feather IgE antibody level
def: "Increased level of IgE antibody against an feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers." [PMID:9534914]
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T18:40:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410227
name: Increased anti-food allergen IgE antibody level
def: "Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish." [PMID:23229594]
synonym: "Increased level of anti-food allergen IgE antibody" EXACT []
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:27:03Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410228
name: Increased anti-plant based food allergen IgE antibody level
def: "Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits." [PMID:26549334]
synonym: "Increased level of anti-plant based food allergen IgE antibody" EXACT []
is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:28:37Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410229
name: Increased anti-gluten IgE antibody level
def: "Increased level of IgE antibody against an gluten, a protein found in wheat, barley, and rye." [PMID:25788950]
synonym: "Increased level of anti-gluten IgE antibody" EXACT []
is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:29:41Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410230
name: Increased anti-nut food product IgE antibody level
def: "Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds." [PMID:12915766, PMID:23229594]
is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:34:16Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410231
name: Increased anti-egg IgE antibody level
def: "Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid." [PMID:11591198]
is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:39:10Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410232
name: Increased anti-fungi IgE antibody level
def: "Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota." [PMID:12402012]
synonym: "Increased anti-fungal IgE antibody level" EXACT []
synonym: "Increased anti-fungus IgE antibody level" EXACT []
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:57:01Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410233
name: Increased anti-meat allergen IgE antibody level
def: "Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken." [PMID:30182427]
is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T22:02:09Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410234
name: Increased anti-parasite IgE antibody level
def: "Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii." [https://doi.org/10.1007/s40475-015-0058-7]
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T22:42:54Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410235
name: Increased anti-insect IgE antibody level
def: "Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches." [PMID:21913205]
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T22:38:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410236
name: Increased anti-venom IgE antibody level
def: "Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets." [PMID:21913205]
is_a: HP:0410235 ! Increased anti-insect IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T22:40:21Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410238
name: Increased anti-plant product IgE antibody level
def: "Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen." []
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T23:09:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410239
name: Positive urine norcotinine test
def: "Detection of norcotinine, a metabolite of nicotine, in urine." []
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-10-09T23:11:26Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410240
name: Abnormal IgA level
def: "An abnormal deviation from normal levels of IgA immunoglobulin in blood." []
is_a: HP:0010701 ! Abnormal immunoglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:32:11Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410241
name: Abnormal IgE level
def: "An abnormal deviation from normal levels of IgE immunoglobulin in blood." []
is_a: HP:0010701 ! Abnormal immunoglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:32:27Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410242
name: Abnormal IgG level
def: "An abnormal deviation from normal levels of IgG immunoglobulin in blood." []
is_a: HP:0010701 ! Abnormal immunoglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:32:38Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410243
name: Abnormal IgM level
def: "An abnormal deviation from normal levels of IgM immunoglobulin in blood." []
is_a: HP:0010701 ! Abnormal immunoglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:32:45Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410244
name: Abnormal IgD level
def: "An abnormal deviation from normal levels of IgD immunoglobulin in blood." []
is_a: HP:0010701 ! Abnormal immunoglobulin level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:42:13Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410245
name: Decreased circulating total IgD
def: "An abnormally decreased level of immunoglobulin D (IgD) in blood." []
synonym: "Decreased IgD" EXACT []
synonym: "IgD deficiency" EXACT []
is_a: HP:0004313 ! Decreased antibody level in blood
is_a: HP:0410244 ! Abnormal IgD level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:43:37Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410246
name: Increased circulating IgD level
def: "An abnormally increased level of immunoglobulin D in blood." []
synonym: "Elevated IgD" EXACT []
synonym: "Elevated serum IgD" EXACT []
synonym: "IgD hypergammaglobulinemia" EXACT []
synonym: "Increased IgD level" EXACT []
synonym: "Increased levels of IgD" EXACT []
synonym: "Increased serum IgD" EXACT []
is_a: HP:0010702 ! Increased antibody level in blood
is_a: HP:0410244 ! Abnormal IgD level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:43:48Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410247
name: Increased anti-animal dander IgE antibody level
def: "Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats." []
synonym: "Increased level of anti-dander IgE antibody" EXACT []
is_a: HP:0410221 ! Increased anti-animal protein IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:49:45Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410248
name: Increased anti-house dust mite IgE antibody level
def: "Increased level of IgE antibody against house dust mites, a common allergen." []
synonym: "Increased anti-house dust IgE antibody level" EXACT []
synonym: "Increased level of anti-house dust IgE antibody" EXACT []
is_a: HP:0410223 ! Increased anti-dust mite IgE antibody level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:56:01Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410249
name: Increased anti-alpha-gal IgE antibody level
def: "Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat." [PMID:29986992]
synonym: "Increased anti-galactose-alpha-1, 3 galactose IgE antibody level" EXACT []
is_a: HP:0032336 ! Increased circulating specific IgE antibody
property_value: http://purl.org/dc/elements/1.1/date 2018-10-15T17:54:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410251
name: Abnormal L-selectin shedding
def: "An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection." [PMID:8614468]
is_a: HP:0011990 ! Abnormality of neutrophil physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T17:56:39Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410252
name: Chronic neutropenia
def: "Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months." [PMID:23953336]
is_a: HP:0001875 ! Neutropenia
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T18:25:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410253
name: Chronic neutropenia in myeloid maturation arrest in bone marrow
def: "Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow." [PMID:23233578]
is_a: HP:0410252 ! Chronic neutropenia
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T18:41:56Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410254
name: Cyclic neutropenia in myeloid maturation arrest in bone marrow
def: "Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow." [PMID:23233578]
is_a: HP:0040289 ! Cyclic neutropenia
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T18:52:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410255
name: Transient neutropenia
def: "A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity." [PMID:23953336]
is_a: HP:0001875 ! Neutropenia
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T18:57:52Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410256
name: Infection associated neutropenia
def: "Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan." [PMID:23953336]
is_a: HP:0410255 ! Transient neutropenia
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T19:13:46Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410257
name: Neutrophilia in presence of infection
def: "An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus." [PMID:27543669]
is_a: HP:0011897 ! Neutrophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T19:22:50Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410258
name: Neutrophilia in absence of infection
def: "An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders." [PMID:24050624]
is_a: HP:0011897 ! Neutrophilia
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T19:23:14Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410259
name: Hepatopulmonary fusion
def: "Fusion of the liver with the lung." [PMID:28196822]
synonym: "Hepatic pulmonary fusion" EXACT []
is_a: HP:0410042 ! Abnormal liver morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T21:35:39Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410260
name: Asymmetrical gluteal crease
def: "The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg." [PMID:29701087]
synonym: "Asymmetrical buttock crease" EXACT []
synonym: "Asymmetrical gluteal sulcus" EXACT []
synonym: "Asymmetrical horizontal gluteal crease" EXACT []
is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T21:42:53Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410261
name: Wide space between 4th and 5th toe
def: "A widely spaced gap between the fourth toe and the fifth (pinky) toe." []
synonym: "Wide space between the 4th and 5th toe" EXACT []
is_a: HP:0010321 ! Abnormality of the 4th toe
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T22:00:03Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410262
name: Lower cranial nerve dysfunction
def: "A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves." [PMID:26167022]
synonym: "Abnormal lower cranial nerve function" EXACT []
is_a: HP:0031910 ! Abnormal cranial nerve physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T22:03:52Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410263
name: Brain imaging abnormality
def: "An anomaly of metabolism or structure of the brain identified by imaging." []
synonym: "Abnormal brain imaging" EXACT []
is_a: HP:0012638 ! Abnormality of nervous system physiology
property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T22:17:24Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410264
name: Subglottic hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway." [PMID:30174006]
synonym: "Airway hemangioma" EXACT []
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:47:40Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410265
name: Supraglottic hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords." [PMID:16866116]
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:49:01Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410266
name: Visceral hemangioma
def: "A hemangiomas arising from within visceral structures, the internal organs of the body." [https://doi.org/10.1016/j.epsc.2014.06.004]
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:56:12Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410267
name: Intestinal hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel." [https://orcid.org/0000-0001-5208-3432]
synonym: "Bowel hemangioma" EXACT []
synonym: "Intestinal hemangioma" EXACT []
is_a: HP:0410266 ! Visceral hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:56:39Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410268
name: Spleen hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen." [PMID:11307096]
synonym: "Splenic hemangioma" EXACT []
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:57:13Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410269
name: Labial hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip." [http://www.jpss.eu/index.php/current-issue/item/457-forty-four-cases-of-labial-hemangioma-therapeutic-management]
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:07:28Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410270
name: Esophageal hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus." [PMID:10626176]
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:10:29Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410271
name: Laryngeal hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions." [PMID:28419860]
synonym: "Throat hemangioma" EXACT []
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:15:03Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410272
name: Vulvar hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva." [PMID:29980161]
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:17:19Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410273
name: Retropharyngeal hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx." [PMID:26011223, UBERON:0035619]
xref: NCIT:C3085
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:17:49Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410274
name: Paraspinal hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine." [http://ispub.com/IJOS/11/1/8101#]
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:21:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410275
name: Lumbosacral hemangioma
def: "A spinal cord hemangioma located in the lumbosacral spine region." [PMID:25449217]
synonym: "Lumbar/sacral hemangioma" EXACT []
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:21:55Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410276
name: Supraumbilical raphe
def: "An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button)." [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities, PMID:24075092]
synonym: "Midline supraumbilical raphe" EXACT []
is_a: HP:0000766 ! Abnormality of the sternum
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T18:16:55Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410277
name: Sternal pit
def: "A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum." [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities]
is_a: HP:0000766 ! Abnormality of the sternum
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T18:23:42Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410278
name: Pituitary gland cyst
def: "A fluid-filled sacs that develop on or near the pituitary gland." [https://www.chop.edu/conditions-diseases/pituitary-cysts]
synonym: "Cyst of the pituitary gland" EXACT []
is_a: HP:0010576 ! Intracranial cystic lesion
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T19:49:29Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410279
name: Atrophic pituitary gland
def: "Partial or complete wasting (loss) of the pituitary gland." [DOI:10.1530/endoabs.44.EP82]
synonym: "Atrophic pituitary" EXACT []
synonym: "Pituitary gland atrophy" EXACT []
is_a: HP:0012506 ! Small pituitary gland
property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T19:54:09Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410280
name: Pediatric onset
def: "Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset." [ORCID:0000-0002-0843-4271]
synonym: "Onset before adulthood" EXACT []
is_a: HP:0003674 ! Onset
property_value: http://purl.org/dc/elements/1.1/date 2018-11-01T15:27:45Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410281
name: Dyspepsia
def: "A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur." [PMID:23399526]
synonym: "Indigestion" EXACT layperson [ORCID:0000-0001-6439-2224]
is_a: HP:0002027 ! Abdominal pain
property_value: http://purl.org/dc/elements/1.1/date 2018-11-06T23:08:26Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410282
name: Abnormal circulating amylase level
def: "A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands." [NCIT:C16284]
is_a: HP:0010876 ! Abnormal circulating protein level
property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T01:35:56Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410283
name: Positive blood acetaminophen test
def: "Detection of acetaminophen in the blood." []
synonym: "Positive blood paracetamol test" EXACT []
synonym: "Positive blood Tylenol test" EXACT []
is_a: HP:0410172 ! Blood xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T01:44:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410284
name: Positive norpropoxyphene blood test
def: "Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene." [PubChem:18804]
is_a: HP:0410172 ! Blood xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T02:17:31Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410285
name: Positive meconium methadone test
def: "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium." []
is_a: HP:0500098 ! Meconium xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T02:02:19Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410286
name: Positive blood molindone test
def: "Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia." [PubChem:23897]
synonym: "Positive blood Moban test" EXACT []
is_a: HP:0410172 ! Blood xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T02:07:58Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410287
name: Intrathoracic hemangioma
def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region." []
synonym: "Chest hemangioma" EXACT []
is_a: HP:0001028 ! Hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2019-01-09T20:07:18Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410288
name: Hyperamylasemia
def: "Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands." []
synonym: "Increased circulating amylase level" EXACT []
is_a: HP:0410282 ! Abnormal circulating amylase level
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T20:07:47Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410289
name: Hypoamylasemia
def: "Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands." []
synonym: "Decreased circulating amylase level" EXACT []
is_a: HP:0410282 ! Abnormal circulating amylase level
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T20:07:56Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410290
name: Positive urine norpropoxyphene test
def: "Detection of norpropoxyphene in urine." []
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T20:20:19Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410291
name: Negativism
def: "Opposing or not responding to instructions or external stimuli." [PMID:28754582, PMID:30262571]
is_a: HP:0000708 ! Behavioral abnormality
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T20:32:25Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410292
name: Abnormal isohemagglutinin level
def: "An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)." []
synonym: "Abnormal level of natural antibody to blood group agents" EXACT []
is_a: HP:0012475 ! Decreased circulating level of specific antibody
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T21:28:37Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410293
name: Absent isohemagglutinin level
def: "Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)." [PMID:25309532]
synonym: "Absent natural antibody to blood group agents" EXACT []
is_a: HP:0410292 ! Abnormal isohemagglutinin level
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T21:29:11Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410294
name: Decreased specific antibody response to protein vaccine
def: "A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination." [PMID:26018535]
is_a: HP:0032140 ! Decreased specific antibody response to vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410295
name: Complete or near-complete absence of specific antibody response to tetanus vaccine
def: "The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410294 ! Decreased specific antibody response to protein vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:31Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410296
name: Complete or near-complete absence of specific antibody response to hepatitis B vaccine
def: "The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410294 ! Decreased specific antibody response to protein vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:42Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410297
name: Partial absence of specific antibody response to tetanus vaccine
def: "A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410294 ! Decreased specific antibody response to protein vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:45Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410298
name: Partial absence of specific antibody response to hepatitis B vaccine
def: "A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410294 ! Decreased specific antibody response to protein vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:55Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410299
name: Decreased specific antibody response to polysaccharide vaccine
def: "A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination." [PMID:26018535]
is_a: HP:0032140 ! Decreased specific antibody response to vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:03:17Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410300
name: Complete or near-complete absence of specific antibody response to pneumococcus vaccine
def: "The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410299 ! Decreased specific antibody response to polysaccharide vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:03:29Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410301
name: Partial absence of specific antibody response to pneumococcus vaccine
def: "A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410299 ! Decreased specific antibody response to polysaccharide vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:03:40Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410302
name: Decreased specific antibody response to protein-conjugated polysaccharide vaccine
def: "A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination." [PMID:26018535]
is_a: HP:0032140 ! Decreased specific antibody response to vaccination
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410303
name: Complete or near-complete absence of specific antibody response to Haemophilus H type B vaccine
def: "The inability to synthesize postvaccination antibodies against a Haemophilus H type B antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410302 ! Decreased specific antibody response to protein-conjugated polysaccharide vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:07Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410304
name: Complete or near-complete absence of specific antibody response to meningococcus vaccine
def: "The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410302 ! Decreased specific antibody response to protein-conjugated polysaccharide vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:12Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410305
name: Partial absence of specific antibody response to Haemophilus H type B vaccine
def: "A reduced ability to synthesize postvaccination antibodies against a Haemophilus H type B antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410302 ! Decreased specific antibody response to protein-conjugated polysaccharide vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:21Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410306
name: Partial absence of specific antibody response to meningococcus vaccine
def: "A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination." []
is_a: HP:0410302 ! Decreased specific antibody response to protein-conjugated polysaccharide vaccine
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:31Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410307
name: Positive stool methadone test
def: "Detection of methadone and its metabolites in the stool." []
is_a: HP:0500097 ! Stool xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T23:27:34Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410308
name: Decreased specific antibody response to infection
def: "A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection." []
is_a: HP:0012475 ! Decreased circulating level of specific antibody
property_value: http://purl.org/dc/elements/1.1/date 2019-01-30T19:50:11Z xsd:dateTime
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410309
name: Alpha-aminoadipic aciduria
def: "A increased concentration of alpha-aminoadipic acid in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:117247]
synonym: "2-aminoadipic aciduria" EXACT []
is_a: HP:0003355 ! Aminoaciduria
created_by: https://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410310
name: Abnormality of neutrophil morphology in CSF
def: "An abnormal form or size of neutrophils in the cerebrospinal fluid." [https://orcid.org/0000-0002-8169-9049]
synonym: "Abnormality of neutrophil morphology in cerebrospinal fluid" EXACT []
is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410311
name: Hyposegmentation of neutrophil nuclei in CSF
def: "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid." [https://orcid.org/0000-0002-8169-9049]
synonym: "Hyposegmentation of neutrophil nuclei in cerebrospinal fluid" EXACT []
is_a: HP:0410310 ! Abnormality of neutrophil morphology in CSF
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410312
name: Hypersegmentation of neutrophil nuclei in CSF
def: "An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid." [https://orcid.org/0000-0002-8169-9049]
synonym: "Hypersegmentation of neutrophil nuclei in cerebrospinal fluid" EXACT []
is_a: HP:0410310 ! Abnormality of neutrophil morphology in CSF
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410313
name: Abnormal urinary 1-methylhistidine concentration
def: "Abnormal concentration of 1-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049]
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410314
name: Decreased urinary 1-methylhistidine
def: "Decreased concentration of 1-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049]
is_a: HP:0410313 ! Abnormal urinary 1-methylhistidine concentration
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410315
name: Increased urinary 1-methylhistidine
def: "Increased concentration of 1-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049]
synonym: "1-Methylhistidinuria" EXACT []
is_a: HP:0410313 ! Abnormal urinary 1-methylhistidine concentration
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410316
name: Abnormal urinary 3-methylhistidine concentration
def: "Abnormal concentration of 3-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:6790901]
is_a: HP:0003110 ! Abnormality of urine homeostasis
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410317
name: Increased urinary 3-methylhistidine
def: "Increased concentration of 3-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:6790901]
synonym: "3-Methylhistidinuria" EXACT []
is_a: HP:0410316 ! Abnormal urinary 3-methylhistidine concentration
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410318
name: Decreased urinary 3-methylhistidine
def: "Decreased concentration of 3-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:6790901]
is_a: HP:0410316 ! Abnormal urinary 3-methylhistidine concentration
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410319
name: Alpha-gal allergy
def: "Hypersensitivity in form of an adverse immune reaction against alpha-gal." []
synonym: "Allergy to alpha-gal" EXACT []
synonym: "Alpha-gal allergy" EXACT layperson []
synonym: "IgE-mediated alpha-gal allergy" EXACT []
synonym: "Immunoglobulin E-mediated alpha-gal allergy" EXACT []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410320
name: Animal protein allergy
def: "Hypersensitivity in form of an adverse immune reaction against animal proteins." []
synonym: "Allergy to animal proteins" EXACT []
synonym: "Animal protein allergy" EXACT layperson []
synonym: "IgE-mediated animal protein allergy" EXACT []
synonym: "Immunoglobulin E-mediated animal protein allergy" EXACT []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410321
name: Animal dander allergy
def: "Hypersensitivity in form of an adverse immune reaction against animal dander." []
synonym: "Allergy to animal dander" EXACT []
synonym: "Animal dander allergy" EXACT layperson []
synonym: "IgE-mediated animal dander allergy" EXACT []
synonym: "Immunoglobulin E-mediated animal dander allergy" EXACT []
is_a: HP:0410320 ! Animal protein allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410322
name: Bacteria allergy
def: "Hypersensitivity in form of an adverse immune reaction against bacteria." []
synonym: "Allergy to bacteria" EXACT []
synonym: "Bacteria allergy" EXACT layperson []
synonym: "IgE-mediated bacteria allergy" EXACT []
synonym: "Immunoglobulin E-mediated bacteria allergy" EXACT []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410323
name: Drug allergy
def: "Hypersensitivity in form of an adverse immune reaction against drugs." []
synonym: "Allergy to drugs" EXACT []
synonym: "Drug allergy" EXACT layperson []
synonym: "IgE-mediated drug allergy" EXACT []
synonym: "Immunoglobulin E-mediated drug allergy" EXACT []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410324
name: Dust mite allergy
def: "Hypersensitivity in form of an adverse immune reaction against dust mites." []
synonym: "Allergy to dust mites" EXACT []
synonym: "Dust mite allergy" EXACT layperson []
synonym: "IgE-mediated dust mite allergy" EXACT []
synonym: "Immunoglobulin E-mediated dust mite allergy" EXACT []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410325
name: House dust mite allergy
def: "Hypersensitivity in form of an adverse immune reaction against house dust mites." []
synonym: "Allergy to house dust mites" EXACT []
synonym: "House dust mite allergy" EXACT layperson []
synonym: "IgE-mediated house dust mite allergy" EXACT []
synonym: "Immunoglobulin E-mediated house dust mite allergy" EXACT []
is_a: HP:0410324 ! Dust mite allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410326
name: Feather allergy
def: "Hypersensitivity in form of an adverse immune reaction against feathers." []
synonym: "Allergy to feathers" EXACT []
synonym: "Feather allergy" EXACT layperson []
synonym: "IgE-mediated feather allergy" EXACT []
synonym: "Immunoglobulin E-mediated feather allergy" EXACT []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410327
name: Dairy allergy
def: "Hypersensitivity in form of an adverse immune reaction against dairy." []
synonym: "Allergy to dairy" EXACT []
synonym: "Dairy allergy" EXACT layperson []
synonym: "IgE-mediated dairy allergy" EXACT []
synonym: "Immunoglobulin E-mediated dairy allergy" EXACT []
is_a: HP:0500093 ! Food allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410328
name: Egg allergy
def: "Hypersensitivity in form of an adverse immune reaction against eggs." []
synonym: "Allergy to eggs" EXACT []
synonym: "Egg allergy" EXACT layperson []
synonym: "IgE-mediated egg allergy" EXACT []
synonym: "Immunoglobulin E-mediated egg allergy" EXACT []
is_a: HP:0500093 ! Food allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410329
name: Gluten allergy
def: "Hypersensitivity in form of an adverse immune reaction against gluten." []
comment: A gluten allergy is usually distinct from gluten sensitivity or Celiac disease.
synonym: "Allergy to gluten" EXACT []
synonym: "Gluten allergy" EXACT layperson []
synonym: "IgE-mediated gluten allergy" EXACT []
synonym: "Immunoglobulin E-mediated gluten allergy" EXACT []
is_a: HP:0500093 ! Food allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410330
name: Meat allergen allergy
def: "Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products." []
synonym: "Allergy to meat allergens" EXACT []
synonym: "IgE-mediated meat allergen allergy" EXACT []
synonym: "Immunoglobulin E-mediated meat allergen allergy" EXACT []
synonym: "Meat allergen allergy" EXACT layperson []
synonym: "Meat allergy" EXACT layperson []
is_a: HP:0500093 ! Food allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410331
name: Nut food product allergy
def: "Hypersensitivity in form of an adverse immune reaction against nut food products." []
synonym: "Allergy to nut food products" EXACT []
synonym: "IgE-mediated nut food product allergy" EXACT []
synonym: "Immunoglobulin E-mediated nut food product allergy" EXACT []
synonym: "Nut allergy" EXACT layperson []
synonym: "Nut food product allergy" EXACT layperson []
is_a: HP:0410332 ! Plant based food allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410332
name: Plant based food allergy
def: "Hypersensitivity in form of an adverse immune reaction against plant based food allergens." []
synonym: "Allergy to plant based food allergens" EXACT []
synonym: "IgE-mediated plant based food allergen allergy" EXACT []
synonym: "Immunoglobulin E-mediated plant based food allergen allergy" EXACT []
synonym: "Plant based food allergy" EXACT layperson []
is_a: HP:0500093 ! Food allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410333
name: Seafood allergy
def: "Hypersensitivity in form of an adverse immune reaction against seafood." []
synonym: "Allergy to seafood" EXACT []
synonym: "IgE-mediated seafood allergy" EXACT []
synonym: "Immunoglobulin E-mediated seafood allergy" EXACT []
synonym: "Seafood allergy" EXACT layperson []
is_a: HP:0500093 ! Food allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410334
name: Fungi allergy
def: "Hypersensitivity in form of an adverse immune reaction against fungus." []
synonym: "Allergy to fungi" EXACT []
synonym: "Fungal allergy" EXACT layperson []
synonym: "Fungi allergy" EXACT layperson []
synonym: "Fungus allergy" EXACT layperson []
synonym: "IgE-mediated fungi allergy" EXACT []
synonym: "Immunoglobulin E-mediated fungi allergy" EXACT []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410335
name: Insect allergy
def: "Hypersensitivity in form of an adverse immune reaction against insects." []
synonym: "Allergy to insects" EXACT []
synonym: "IgE-mediated insect allergy" EXACT []
synonym: "Immunoglobulin E-mediated insect allergy" EXACT []
synonym: "Insect allergy" EXACT layperson []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410336
name: Venom allergy
def: "Hypersensitivity in form of an adverse immune reaction against insect venom." []
synonym: "Allergy to venom" EXACT []
synonym: "IgE-mediated venom allergy" EXACT []
synonym: "Immunoglobulin E-mediated venom allergy" EXACT []
synonym: "Venom allergy" EXACT layperson []
is_a: HP:0410335 ! Insect allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410337
name: Parasite allergy
def: "Hypersensitivity in form of an adverse immune reaction against parasites." []
synonym: "Allergy to parasites" EXACT []
synonym: "IgE-mediated parasite allergy" EXACT []
synonym: "Immunoglobulin E-mediated parasite allergy" EXACT []
synonym: "Parasite allergy" EXACT layperson []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410338
name: Plant product allergy
def: "Hypersensitivity in form of an adverse immune reaction against plant products." []
synonym: "Allergy to plant products" EXACT []
synonym: "IgE-mediated plant product allergy" EXACT []
synonym: "Immunoglobulin E-mediated plant product allergy" EXACT []
synonym: "Plant product allergy" EXACT layperson []
is_a: HP:0012393 ! Allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410339
name: Insect bite allergy
def: "Hypersensitivity in form of an adverse immune reaction against insect bites." []
synonym: "Allergy to insect bites" EXACT []
synonym: "IgE-mediated insect bite allergy" EXACT []
synonym: "Immunoglobulin E-mediated insect bite allergy" EXACT []
synonym: "Insect bite allergy" EXACT layperson []
is_a: HP:0410335 ! Insect allergy
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410340
name: Focal epithelial hyperplasia of oral mucosa
def: "The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate." [PMID:23204755]
synonym: "Focal epithelial hyperplasia of the lining of mouth" EXACT []
synonym: "Oral mucosa epithelial hyperplasia" EXACT []
is_a: HP:0011830 ! Abnormal oral mucosa morphology
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410341
name: Abnormal circulating heparan sulfate level
def: "An abnormal level of heparan sulfate in the blood." [https://orcid.org/0000-0001-9969-8610]
synonym: "Abnormality of the concentration of heparan sulfate in the blood" EXACT []
is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410342
name: Increased circulating heparan sulfate level
def: "An abnormal increase in the concentration of heparan sulfate in the blood." [https://orcid.org/0000-0001-9969-8610, PMID:9692391]
synonym: "Increased blood heparan sulfate concentration" EXACT []
is_a: HP:0410341 ! Abnormal circulating heparan sulfate level
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410343
name: Decreased circulating heparan sulfate level
def: "An abnormal decrease in the concentration of heparan sulfate in the blood." [https://orcid.org/0000-0001-9969-8610, PMID:23514715]
synonym: "Decreased blood heparan sulfate concentration" EXACT []
is_a: HP:0410341 ! Abnormal circulating heparan sulfate level
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410344
name: Shortened O-fucosylated glycan on properdin
def: "Decreased length of O-fucosylated glycans present on properdin." [https://orcid.org/0000-0001-9969-8610, PMID:18199743]
synonym: "Presence of terminal O-fucose glycans on properdin" EXACT []
is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410345
name: Increased urinary polyhexose
def: "An abnormal increase in the concentration of polyhexose in the urine." [https://orcid.org/0000-0001-9969-8610, PMID:23676310]
synonym: "Increased polyhexose concentration in urine" EXACT []
is_a: HP:0010471 ! Oligosacchariduria
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410346
name: Increased urinary galactosylated oligosaccharide
def: "An abnormal increase in the concentration of galactosylated oligosaccharides in urine." [https://orcid.org/0000-0001-9969-8610, PMID:23676310]
synonym: "Increased concentration of galactosylated oligosaccharides in urine" EXACT []
is_a: HP:0010471 ! Oligosacchariduria
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410347
name: Increased urinary high-mannose-type oligosaccharide
def: "An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine." [https://orcid.org/0000-0001-9969-8610, PMID:23676310]
synonym: "Increased concentration of high-mannose-type oligosaccharides in urine" EXACT []
is_a: HP:0010471 ! Oligosacchariduria
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410348
name: Increased urinary multiantennary sialylated oligosaccharide
def: "An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine." [https://orcid.org/0000-0001-9969-8610, PMID:23676310]
synonym: "Increase concentration of multiantennary sialylated oligosaccharides in urine" EXACT []
is_a: HP:0010471 ! Oligosacchariduria
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410349
name: Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase activity
def: "An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic activity." [https://orcid.org/0000-0001-9969-8610, PMID:16385447]
is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410350
name: Increased urinary fucosylated oligosaccharide
def: "An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine." [https://orcid.org/0000-0001-9969-8610, PMID:25251875]
synonym: "Increased concentration of fucosylated oligosaccharides in urine" EXACT []
is_a: HP:0010471 ! Oligosacchariduria
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410351
name: Abnormal complex N-glycan level
def: "An abnormal concentration of complex N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610]
synonym: "Abnormal concentration of complex N-glycans on glycoproteins" EXACT []
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410352
name: Increased complex N-glycan level
def: "An abnormal increase in the concentration of complex N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
synonym: "Increased concentration of complex N-glycans on glycoproteins" EXACT []
is_a: HP:0410351 ! Abnormal complex N-glycan level
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410353
name: Decreased complex N-glycan level
def: "An abnormal decrease in the concentration of complex N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:21385794]
synonym: "Increased truncated complex N-glycans on glycoproteins" EXACT []
is_a: HP:0410351 ! Abnormal complex N-glycan level
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410354
name: Increased sialylated N-glycan level
def: "An abnormal increase in the concentration of sialylated N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
synonym: "Increased concentration of sialylated N-glycans on glycoproteins" EXACT []
is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410355
name: Decreased sialylated N-glycan level
def: "An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:23430903]
synonym: "Decreased concentration of sialylated N-glycans on glycoproteins" EXACT []
is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410356
name: Abnormal high-mannose N-glycan level
def: "An abnormal concentration of high-mannose N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610]
synonym: "Abnormal high-mannose N-glycans on glycoprotein concentration" EXACT []
is_a: HP:0012347 ! Abnormal protein N-linked glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410357
name: Increased high-mannose N-glycan level
def: "An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:23928051]
synonym: "Increased high-mannose N-glycans on glycoprotein concentration" EXACT []
is_a: HP:0410356 ! Abnormal high-mannose N-glycan level
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410358
name: Decreased high-mannose N-glycan level
synonym: "An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins." EXACT [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
synonym: "Decreased high-mannose N-glycans on glycoprotein concentration" EXACT []
is_a: HP:0410356 ! Abnormal high-mannose N-glycan level
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410359
name: Abnormal core 1 O-glycan level
def: "An abnormal in the concentration of core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610]
synonym: "Abnormal concentration of T-antigen" EXACT []
is_a: HP:0012358 ! Abnormal protein O-linked glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410360
name: Increased core 1 O-glycan level
def: "An abnormal increase in the concentration of core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:14578315]
synonym: "Increased T-antigen concentration" EXACT []
is_a: HP:0410359 ! Abnormal core 1 O-glycan level
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410361
name: Decreased core 1 O-glycan level
def: "An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
synonym: "Decreased T-antigen concentration" EXACT []
is_a: HP:0410359 ! Abnormal core 1 O-glycan level
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410363
name: Increased monosialylated core 1 O-glycan level
def: "An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:25142811]
synonym: "Increased sialyl T-antigen concentration" EXACT []
is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410364
name: Decreased monosialylated core 1 O-glycan level
def: "An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
synonym: "Decreased sialyl T-antigen concentration" EXACT []
is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410365
name: Increased disialylated core 1 O-glycan level
def: "An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
synonym: "Increased disialyl T-antigen concentration" EXACT []
is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410366
name: Increased globoside Gb4 level
def: "An abnormal increase in the concentration of globoside Gb4." [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
synonym: "Increased globoside Gb4 concentration" EXACT []
is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410368
name: Increased globoside Gb3 level
def: "An abnormal increase in the concentration of glycolipid globoside Gb3." [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
synonym: "Increased globoside Gb3 concentration" EXACT []
is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410370
name: Absence of ganglioside GM3
def: "The absence of ganglioside GM3." [https://orcid.org/0000-0001-9969-8610, PMID:24026681]
is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410372
name: Increased Tn-antigen level
def: "An abnormal increase in the concentration of Tn antigen on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:16251947]
synonym: "Increased O-GalNac on glycoprotein concentration" EXACT []
is_a: HP:0012358 ! Abnormal protein O-linked glycosylation
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410373
name: Abnormal proportion of naive CD4 T cells
def: "Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells." [PMID:22474485]
synonym: "Abnormal proportion of CD4+CD45RA+ cells" EXACT []
is_a: HP:0031396 ! Abnormal proportion of naive T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410374
name: Abnormal proportion of naive CD8 T cells
def: "Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells." [PMID:26700072]
is_a: HP:0031396 ! Abnormal proportion of naive T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410375
name: Elevated proportion of naive CD4 T cells
comment: An abnormally increased proportion of naive CD4 T cells relative to the total number of T cells. {xref="PMID:22474485"}
synonym: "Increased proportion of CD4+CD45RA+ cells" EXACT []
is_a: HP:0031398 ! Elevated proportion of naive T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410376
name: Elevated proportion of naive CD8 T cells
def: "An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells." [PMID:26700072]
is_a: HP:0031398 ! Elevated proportion of naive T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410377
name: Reduced proportion of naive CD8 T cells
def: "An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells." [PMID:26700072]
is_a: HP:0031397 ! Reduced proportion of naive T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410378
name: Reduced proportion of naive CD4 T cells
def: "An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells." [PMID:22474485]
synonym: "Decreased proportion of CD4+CD45RA+ cells" EXACT []
is_a: HP:0031397 ! Reduced proportion of naive T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410379
name: Abnormal proportion of CD4-positive, alpha-beta memory T cells
def: "An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [CL:0000897]
is_a: HP:0032182 ! Abnormal proportion of memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410380
name: Abnormal proportion of CD8-positive, alpha-beta memory T cells
def: "An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [PMID:20146720]
is_a: HP:0032182 ! Abnormal proportion of memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410381
name: Abnormal proportion of central memory CD4-positive, alpha-beta T cells
def: "An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568]
is_a: HP:0410379 ! Abnormal proportion of CD4-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410382
name: Abnormal proportion of effector memory CD4-positive, alpha-beta T cells
def: "An abnormal proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568]
is_a: HP:0410379 ! Abnormal proportion of CD4-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410383
name: Abnormal proportion of effector memory CD8-positive, alpha-beta T cell
def: "An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568]
is_a: HP:0410380 ! Abnormal proportion of CD8-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410384
name: Abnormal proportion of central memory CD8-positive, alpha-beta T cell
def: "An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568]
is_a: HP:0410380 ! Abnormal proportion of CD8-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410385
name: Decreased proportion of CD8-positive, alpha-beta memory T cells
def: "Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [PMID:20146720]
is_a: HP:0032183 ! Decreased proportion of memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410386
name: Decreased proportion of CD4-positive, alpha-beta memory T cells
def: "Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [CL:0000897]
is_a: HP:0032183 ! Decreased proportion of memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410387
name: Decreased proportion of effector memory CD4-positive, alpha-beta T cells
def: "A reduced proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568]
is_a: HP:0410386 ! Decreased proportion of CD4-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410388
name: Decreased proportion of central memory CD4-positive, alpha-beta T cells
def: "A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568]
is_a: HP:0410386 ! Decreased proportion of CD4-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410389
name: Decreased proportion of central memory CD8-positive, alpha-beta T cells
def: "A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568]
is_a: HP:0410385 ! Decreased proportion of CD8-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410390
name: Decreased proportion of effector memory CD8-positive, alpha-beta T cells
def: "A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568]
is_a: HP:0410385 ! Decreased proportion of CD8-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410391
name: Increased proportion of CD4-positive, alpha-beta memory T cells
def: "An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [CL:0000897]
is_a: HP:0032184 ! Increased proportion of memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410392
name: Increased proportion of CD8-positive, alpha-beta memory T cells
def: "An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [PMID:20146720]
is_a: HP:0032184 ! Increased proportion of memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410393
name: Increased proportion of central memory CD4-positive, alpha-beta T cells
def: "An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568]
is_a: HP:0410391 ! Increased proportion of CD4-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410394
name: Increased proportion of effector memory CD4-positive, alpha-beta T cells
def: "An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568]
is_a: HP:0410391 ! Increased proportion of CD4-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410395
name: Increased proportion of effector memory CD8-positive, alpha-beta T cells
def: "An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568]
is_a: HP:0410392 ! Increased proportion of CD8-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0410396
name: Increased proportion of central memory CD8-positive, alpha-beta T cells
def: "An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568]
is_a: HP:0410392 ! Increased proportion of CD8-positive, alpha-beta memory T cells
created_by: http://orcid.org/0000-0001-5208-3432

[Term]
id: HP:0430000
name: Abnormality of the frontal bone
def: "An abnormality of the frontal bone." [GOC:MG]
synonym: "Abnormal morphology of frontal bone" NARROW [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Abnormality of the bone of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of the frontal bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the frontal bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the frontal bone" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021873
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0430002
name: Abnormality of the lacrimal bone
def: "An abnormality of the lacrimal bone." [GOC:MG]
synonym: "Anomaly of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021872
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0430003
name: Abnormality of the palatine bone
def: "An abnormality of the palatine bone." [GOC:MG]
synonym: "Anomaly of the palatine bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the palatine bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the palatine bone" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021871
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0430004
name: Frontomalar faciosynostosis
xref: UMLS:C4021870
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0430005
name: Abnormality of ethmoid bone
def: "An abnormality of the ethmoid bone" [GOC:MG]
synonym: "Anomaly of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Deformity of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Malformation of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021869
is_a: HP:0011821 ! Abnormality of facial skeleton

[Term]
id: HP:0430006
name: Ectopic cilia of eyelid
def: "An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid." [GOC:MG, http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html]
xref: SNOMEDCT_US:95504004
xref: UMLS:C0521574
is_a: HP:0000499 ! Abnormal eyelash morphology

[Term]
id: HP:0430007
name: Symblepharon
def: "A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball." [GOC:MG, http://en.wikipedia.org/wiki/Symblepharon]
synonym: "Eyelid adhesion to globe of eye" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Eyelid stuck to eyeball" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:90216006
xref: UMLS:C0152454
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0430008
name: Accessory eyelid
def: "The presence of more than the normal number of eyelids." [GOC:MG]
synonym: "Double eyelid" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Extra eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:24606006
xref: UMLS:C0266576
xref: UMLS:C4280275
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0430009
name: Hypoplasia of eyelid
def: "Developmental hypoplasia of the eyelid." [GOC:MG]
synonym: "Decreased size of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Short eyelid" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Small eyelid" BROAD layperson [ORCID:0000-0001-5889-4463]
synonym: "Underdevelopment of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:204203001
xref: UMLS:C0344499
xref: UMLS:C4280274
is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid

[Term]
id: HP:0430010
name: Microblepharia
def: "Abnormal shortness of the vertical dimensions of the eyelids." [http://medical-dictionary.thefreedictionary.com/microblepharia]
synonym: "Abnormally small eyelid" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:94684003
xref: UMLS:C0685873
is_a: HP:0000492 ! Abnormal eyelid morphology

[Term]
id: HP:0430011
name: Defect of palpebral conjunctiva
def: "An abnormality of the palpebral conjunctiva." [GOC:MG]
xref: UMLS:C4021868
is_a: HP:0000502 ! Abnormal conjunctiva morphology

[Term]
id: HP:0430012
name: Incomplete ossification of palatine bone
def: "Failure to complete ossification (maturation and calcification) of the palatine bone." [GOC:MG]
synonym: "Incomplete calcification of palatine bone" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Incomplete formation of palatine bone" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Incomplete mineralization of palatine bone" NARROW [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:93595006
xref: UMLS:C0685213
is_a: HP:0430003 ! Abnormality of the palatine bone

[Term]
id: HP:0430013
name: Absent palatine bone ossification
def: "Lack of formation of the palatine bone." [GOC:MG]
synonym: "Absence of palatine bone calcification" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Absence of palatine bone formation" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Absence of palatine bone mineralization" NARROW [ORCID:0000-0001-5889-4463]
xref: UMLS:C4021867
is_a: HP:0430003 ! Abnormality of the palatine bone

[Term]
id: HP:0430014
name: Abnormality of musculature of soft palate
def: "An abnormality of one or more of the five muscles of the soft palate." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of soft palate muscles" EXACT []
xref: UMLS:C4073196
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0100736 ! Abnormal soft palate morphology

[Term]
id: HP:0430015
name: Abnormality of musculature of pharynx
def: "An abnormality of any of the muscles of the pharynx." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of muscles of the pharynx" EXACT []
synonym: "Abnormality of pharyngeal musculature" EXACT []
synonym: "Abnormality of pharynx musculature" EXACT []
xref: UMLS:C4073197
is_a: HP:0000600 ! Abnormality of the pharynx
is_a: HP:0003011 ! Abnormality of the musculature

[Term]
id: HP:0430016
name: Abnormality of tensor veli palatini muscle
def: "An abnormality of the tensor veli palatini muscle" [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073198
is_a: HP:0430014 ! Abnormality of musculature of soft palate

[Term]
id: HP:0430017
name: Abnormality of uvular muscle
def: "An abnormality of the uvular muscle" [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of musculus uvulae" EXACT []
xref: UMLS:C4073199
is_a: HP:0000172 ! Abnormality of the uvula
is_a: HP:0430014 ! Abnormality of musculature of soft palate

[Term]
id: HP:0430018
name: Abnormality of nasal musculature
def: "An abnormality of the muscles of the structure of the nose." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of muscle of nose" EXACT layperson []
synonym: "Abnormality of musculature of the nose" EXACT layperson []
synonym: "Abnormality of nasal musculature" EXACT layperson []
xref: UMLS:C4073200
is_a: HP:0000301 ! Abnormality of facial musculature

[Term]
id: HP:0430019
name: Abnormality of muscle of facial expression
def: "An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of muscle of facial expression" EXACT layperson []
synonym: "Abnormality of musculature of facial expression" EXACT []
xref: UMLS:C4073201
is_a: HP:0000301 ! Abnormality of facial musculature

[Term]
id: HP:0430020
name: Abnormality of levator labii superioris alaeque nasi muscle
def: "An abnormality of the levator labii superioris alaeque nasi muscle." [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073202
is_a: HP:0430019 ! Abnormality of muscle of facial expression

[Term]
id: HP:0430021
name: Abnormal common carotid artery morphology
def: "An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the common carotid artery" EXACT layperson []
xref: UMLS:C4073203
is_a: HP:0005344 ! Abnormal carotid artery morphology

[Term]
id: HP:0430022
name: Abnormality of the sphenoid sinus
def: "An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the sphenoidal sinus" EXACT []
xref: UMLS:C4073204
is_a: HP:0000245 ! Abnormality of the paranasal sinuses

[Term]
id: HP:0430023
name: Abnormality of the maxillary sinus
def: "An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity." [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the antrum of Highmore" EXACT []
synonym: "Abnormality of the maxillary antrum" EXACT []
synonym: "Abnormality of the upper jaw sinus" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073205
is_a: HP:0000245 ! Abnormality of the paranasal sinuses

[Term]
id: HP:0430024
name: Abnormality of external jugular vein
def: "An abnormality of an external jugular vein of the neck." [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073206
is_a: HP:3000042 ! Abnormal jugular vein morphology

[Term]
id: HP:0430025
name: Bilateral facial palsy
def: "Two-sided or bilateral weakness of the muscles of facial expression and eye closure." [ORCID:0000-0001-5889-4463]
synonym: "Bilateral facial muscle paralysis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Bilateral facial muscle weakness" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Bilateral facial paralysis" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Paralysis of both sides of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Weakness of both sides of the face" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073207
is_a: HP:0010628 ! Facial palsy

[Term]
id: HP:0430026
name: Abnormality of the shape of the midface
def: "An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims." [ORCID:0000-0001-5889-4463]
synonym: "Abnormal morphology of the midface" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the shape of the midface" EXACT layperson []
synonym: "Dysmorphic midface" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073208
is_a: HP:0000309 ! Abnormality of the midface
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0430028
name: Hyperplasia of the maxilla
def: "Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla." []
synonym: "Big maxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Big upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of upper jaw" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of maxilla" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Hypertrophy of upper jaw" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Increased projection of maxilla" NARROW [ORCID:0000-0001-5889-4463]
synonym: "Increased projection of upper jaw" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Increased size of maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased size of upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Maxillary excess" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Maxillary hyperplasia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Maxillary macrognathia" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Maxillary prognathia" RELATED [ORCID:0000-0001-5889-4463]
synonym: "Maxillary prominence" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prognathia of the upper jaw" RELATED []
synonym: "Prominent maxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Prominent upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Upper jaw bone excess" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Upper jaw excess" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: SNOMEDCT_US:28070007
xref: UMLS:C0266081
xref: UMLS:C2227090
xref: UMLS:C4073209
xref: UMLS:C4280272
xref: UMLS:C4280273
is_a: HP:0000326 ! Abnormality of the maxilla

[Term]
id: HP:0430029
name: Hyperplasia of the premaxilla
def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures." [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Hyperplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased size of premaxilla" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Increased size of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Large premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Large primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Premaxillary excess" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Primary palate bone excess" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073210
is_a: HP:0010758 ! Abnormality of the premaxilla

[Term]
id: HP:0500001
name: Body odor
def: "A perceived unpleasant smell given off by the body." [HPO:probinson]
synonym: "BO" EXACT HP:0045077 []
synonym: "Body odor" EXACT layperson []
synonym: "Body odour" EXACT []
synonym: "Bromhidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview]
synonym: "Bromidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview]
synonym: "Osmidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview]
is_a: HP:0025142 ! Constitutional symptom

[Term]
id: HP:0500005
name: Anal pain
def: "Pain in and around the anus or rectum (perianal region)." [http://www.mayoclinic.org/symptoms/anal-pain/basics/definition/sym-20050918]
synonym: "Anal pain" EXACT layperson []
synonym: "Rectal pain" EXACT layperson []
is_a: HP:0012531 ! Pain

[Term]
id: HP:0500006
name: Urethritis
def: "Inflammation of the urethra." [PMID:26220178]
comment: Urethritis is characterized by discharge, dysuria and/or urethral discomfort but may be asymptomatic. Common etiologies include gonococcal urethritis as well as infection by chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, trichomonas vaginalis, anaerobes, herpes simplex virus, and adenovirus.
is_a: HP:0000795 ! Abnormality of the urethra

[Term]
id: HP:0500007
name: Iris flocculi
def: "Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris." [PMID:27843899, PMID:7575269]
comment: Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. {xref="PMID:27843899"}
is_a: HP:0000525 ! Abnormality iris morphology

[Term]
id: HP:0500008
name: Cornea verticillata
def: "Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea." [HPO:probinson]
comment: Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. {xref="HPO:probinson"}
synonym: "Vortex keratopathy" EXACT []
is_a: HP:0000481 ! Abnormal cornea morphology

[Term]
id: HP:0500009
name: Dysplastic gangliocytoma of the cerebellum
def: "It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum." [PMID:11073535]
comment: Often associated with Cowden syndrome. {xref="PMID:11073535"}
synonym: "LDD" RELATED HP:0045077 []
synonym: "Lhermitte-Duclos disease" RELATED []
is_a: HP:0001317 ! Abnormal cerebellum morphology

[Term]
id: HP:0500010
name: obsolete Increased cholesterol esters
is_obsolete: true
replaced_by: HP:0031211

[Term]
id: HP:0500011
name: Moon facies
def: "A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin." [HPO:probinson]
comment: Moon facies can occur in persons treated with high-dose corticosteroids or with Cushing disease.
synonym: "Moon face" EXACT layperson []
synonym: "Puffy face" EXACT layperson []
synonym: "Puffy facies" EXACT []
is_a: HP:0001999 ! Abnormal facial shape

[Term]
id: HP:0500012
name: Abnormality of gonadotropin-releasing hormone level
def: "A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland." [HPO:probinson]
synonym: "Abnormality of GnRH level" EXACT HP:0045077 []
is_a: HP:0003117 ! Abnormal circulating hormone level

[Term]
id: HP:0500013
name: Lack of gonadotropin-releasing hormone pulsatility
def: "Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion." [HPO:probinson]
comment: The decapeptide gonadotropin-releasing hormone (GnRH) is the master hormone regulating reproduction. GnRH is released from some 1000 neurons within the hypothalamus in a pulsatile manner. Hypothalamic GnRH gene expression occurs intermittently (in a pulsatile fashion). The primary target of hypothalamic GnRH is the anterior pituitary gonadotrope, which responds to stimulation by increasing the synthesis and secretion of the gonadotropins luteinzing hormone (LH) and follicle stimulating hormone (FSH), which in turn regulate gonadal development and function.
synonym: "Absence of GnRH pulsatility" EXACT []
is_a: HP:0500012 ! Abnormality of gonadotropin-releasing hormone level

[Term]
id: HP:0500014
name: obsolete Abnormal test result
is_obsolete: true
consider: HP:0000118

[Term]
id: HP:0500015
name: Abnormal cardiac test
def: "Abnormal test result of cardiovascular physiology." []
is_a: HP:0001626 ! Abnormality of the cardiovascular system
property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:23:33Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500016
name: Abnormal cardiac MRI
def: "Abnormal results of a MRI for the heart." []
synonym: "Abnormal cardiac magnetic resonance imaging" EXACT []
synonym: "Abnormal heart MRI" EXACT []
is_a: HP:0500015 ! Abnormal cardiac test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:33:16Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500017
name: Abnormal cardiac catheterization
def: "Abnormal results from the diagnostic tests resulting from cardiac catheterization." []
synonym: "Abnormal cardiac cath" EXACT HP:0045077 []
is_a: HP:0500015 ! Abnormal cardiac test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:36:51Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500018
name: Abnormal cardiac exercise stress test
def: "Abnormal results of exercise on heart function." []
synonym: "Abnormal cardiac exercise test" EXACT []
synonym: "Abnormal exercise test" BROAD layperson []
synonym: "Abnormal treadmill test" EXACT layperson []
is_a: HP:0500015 ! Abnormal cardiac test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:41:01Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500019
name: Abnormal resting energy expenditure from metabolic cart test
def: "Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2)." [http://emedicine.medscape.com/article/2009552-overview]
synonym: "Abnormal metabolic cart test" EXACT []
is_a: HP:0500015 ! Abnormal cardiac test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:49:32Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500020
name: Abnormal cardiac biomarker test
def: "Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes." [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers]
is_a: HP:0500015 ! Abnormal cardiac test
property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:54:55Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500021
name: Reduced brain gamma-aminobutyric acid level by MRS
def: "An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:27388694]
is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T19:29:53Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500022
name: Abnormal serum dehydroepiandrosterone level
def: "A deviation from the normal concentration of dehydroepiandrosterone in the circulation." [PMID:27979632]
comment: Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids.
synonym: "Abnormal serum androstenolone level" EXACT []
synonym: "Abnormal serum DHEA" EXACT HP:0045077 []
is_a: HP:0030347 ! Abnormal circulating androgen level
property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T19:38:52Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500023
name: Shoulder muscle aplasia
def: "Absence of shoulder muscles." []
synonym: "Absent shoulder muscle" EXACT []
is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature
property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:40:00Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500024
name: Aplasia of the musculature of the pelvis
def: "Absence of the musculature of the pelvis." []
is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:51:46Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500026
name: Hypoplasia of the musculature of the pelvis
def: "Underdevelopment of the musculature of the pelvis." []
is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis
property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:53:10Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500027
name: Aplastic colon
def: "Congenital absence of the colon" []
synonym: "Absence of the colon" EXACT []
synonym: "Aplasia of the colon" EXACT []
is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon
property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T17:10:13Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500028
name: Cotton wool plaques
def: "Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes." [PMID:20460383]
synonym: "CWPs" EXACT HP:0045077 []
is_a: HP:0100256 ! Senile plaques
property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T18:52:34Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500030
name: Abnormal hepatic glycogen storage
def: "Change in normal glycogen storage content." [PMID:26835382]
is_a: HP:0410042 ! Abnormal liver morphology
property_value: http://purl.org/dc/elements/1.1/date 2017-06-01T16:35:52Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500031
name: Sclerosis of the carpal bones
def: "An elevation in bone density in one or more carpal bones of the hand." [PMID:21120491]
is_a: HP:0004054 ! Sclerosis of hand bone
property_value: http://purl.org/dc/elements/1.1/contributor ORCID:0000-0003-0169-8159 xsd:string
property_value: http://purl.org/dc/elements/1.1/date 2017-06-01T16:54:00Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500032
name: Abnormal neuron branching
def: "Abnormality of the structure and branching of the dendrites of a neuron." [PMID:20404840]
synonym: "Aberrant neuronal branching" EXACT []
synonym: "Abnormal neuronal branching" EXACT []
is_a: HP:0012757 ! Abnormal neuron morphology
property_value: http://purl.org/dc/elements/1.1/contributor ORCID:0000-0003-0169-8159 xsd:string
property_value: http://purl.org/dc/elements/1.1/date 2017-06-07T17:35:08Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500033
name: Abnormal natural killer subset distribution
def: "Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells." []
is_a: HP:0040089 ! Abnormal natural killer cell count
property_value: http://purl.org/dc/elements/1.1/date 2018-01-08T19:18:59Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500034
name: Nasolacrimal sac obstruction
def: "Blockage of the nasolacrimal sac." [PMID:17203310]
is_a: HP:3000066 ! Abnormal lacrimal sac morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:35:58Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500035
name: Nasolacrimal sac granuloma
def: "A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac." [PMID:13434546]
is_a: HP:0500034 ! Nasolacrimal sac obstruction
property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:48:25Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500036
name: Nasolacrimal sac papilloma
def: "Benign tumor of the nasolacrimal sac." [PMID:4352147]
is_a: HP:0500035 ! Nasolacrimal sac granuloma
property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:58:13Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500037
name: Nasolacrimal sac epithelial papillary carcinoma
def: "The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac." [PMID:16253035]
is_a: HP:3000066 ! Abnormal lacrimal sac morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T17:14:14Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500039
name: Conjunctival cicatrization
def: "An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring." [ORCID:0000-0003-0986-4123]
synonym: "Cicatricial conjunctivitis" EXACT []
synonym: "Cicatrizating conjunctivitis" EXACT []
synonym: "Conjunctival cicatricial conjunctivitis" EXACT []
is_a: HP:0030947 ! Conjunctival follicles
property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T14:47:58Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500040
name: Dermolipoma of the conjunctiva
def: "A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix." [PMID:25586714]
synonym: "Conjunctival lipodermoid" EXACT []
is_a: HP:0500039 ! Conjunctival cicatrization
property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T15:28:59Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500041
name: Myopic astigmatism
def: "A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest." [https://www.aoa.org/]
is_a: HP:0000483 ! Astigmatism
property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T15:53:24Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500042
name: Latent hypermetropia
def: "A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye." []
synonym: "Latent hyperopia" EXACT []
is_a: HP:0008499 ! High hypermetropia
property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T18:41:23Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500043
name: Eyelid retraction
def: "With the eyes in primary position, the sclera is visible above the superior corneal limbus." [https://www.aao.org/bcscsnippetdetail.aspx?id=03ad3eb3-3445-4be2-9470-2c4845169b75, PMID:8719687]
is_a: HP:0000492 ! Abnormal eyelid morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:22:49Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500044
name: Upper eyelid retraction
def: "An elevation of the eyelid above the normal level in the primary position." [PMID:7735674]
is_a: HP:0500043 ! Eyelid retraction
property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:39:46Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500045
name: Collier's sign
def: "A unilateral or bilateral eyelid retraction due to midbrain lesions." [PMID:17323781]
is_a: HP:0500044 ! Upper eyelid retraction
property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:48:13Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500046
name: Seborrhoeic blepharitis
def: "Inflamation of the eyelid due to overactivity of the sebaceous gland." [PMID:10777824]
comment: There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. {xref="PMID:10777824"}
is_a: HP:0025610 ! Posterior blepharitis
property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T17:03:04Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500047
name: Nasolacrimal sac lymphoma
def: "A type of lymphoma that involves the nasolacrimal sac." [ORCID:0000-0003-0986-4123, PMID:9392338]
is_a: HP:3000066 ! Abnormal lacrimal sac morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-02-12T18:31:38Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500048
name: Delayed canalization of nasolacrimal duct
def: "A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period." [PMID:11222337]
is_a: HP:0000579 ! Nasolacrimal duct obstruction
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T15:38:47Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500049
name: Retinopathy of prematurity
def: "An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness." [ISBN:978-3-319-52190-9, PMID:16009843]
is_a: HP:0000488 ! Retinopathy
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:14:43Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500050
name: Retinopathy of prematurity stage 1
def: "The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina." [ISBN:978-3-319-52190-9, PMID:16009843]
synonym: "ROP stage 1" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:27:23Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500051
name: Retinopathy of prematurity stage 2
def: "The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous." [ISBN:978-3-319-52190-9]
synonym: "ROP stage 2" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:30:02Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500052
name: Retinopathy of prematurity stage 3
def: "The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina." [ISBN:978-3-319-52190-9]
synonym: "ROP stage 3" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:43:45Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500053
name: Retinopathy of prematurity stage 4
def: "Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment." [ISBN:978-3-319-52190-9]
comment: Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase.
synonym: "ROP stage 4" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:51:13Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500054
name: Retinopathy of prematurity stage 4a
def: "A detachment that involves the peripheral retina that does not extend into the macula." [ISBN:978-3-319-52190-9]
synonym: "ROP stage 4a" EXACT HP:0045077 []
is_a: HP:0500053 ! Retinopathy of prematurity stage 4
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:56:37Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500055
name: Retinopathy of prematurity stage 4b
def: "A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well." [ISBN:978-3-319-52190-9]
synonym: "ROP 4b" EXACT HP:0045077 []
is_a: HP:0500053 ! Retinopathy of prematurity stage 4
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:56:48Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500056
name: Retinopathy of prematurity stage 5
def: "Funnel detachment from the retina with generally traction in all four quadrants." [ISBN:978-3-319-52190-9]
synonym: "ROP stage 5" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:11:28Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500057
name: Retinopathy of prematurity stage 5a
def: "An open funnel detachment of the retina with generally traction in all four quadrants." [ISBN:978-3-319-52190-9]
synonym: "ROP stage 5a" EXACT HP:0045077 []
is_a: HP:0500056 ! Retinopathy of prematurity stage 5
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:16:16Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500058
name: Retinopathy of prematurity stage 5b
def: "A closed funnel detachment of the retina with generally traction in all four quadrants." [ISBN:978-3-319-52190-9]
synonym: "ROP stage 5b" EXACT HP:0045077 []
is_a: HP:0500056 ! Retinopathy of prematurity stage 5
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:16:26Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500059
name: Retinopathy of prematurity zone I
def: "Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula." [ISBN:978-3-319-52190-9, PMID:16009843]
synonym: "ROP zone 1" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:24:42Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500060
name: Retinopathy of prematurity zone II
def: "Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata." [ISBN:978-3-319-52190-9, PMID:16009843]
synonym: "ROP zone II" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:52:54Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500061
name: Retinopathy of prematurity zone III
def: "Retinopathy which is a residual crescent of retina anterior to zone II." [ISBN:978-3-319-52190-9, PMID:16009843]
synonym: "ROP zone III" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:53:11Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500062
name: Retinopathy of prematurity plus
def: "Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye." [PMID:16009843]
synonym: "ROP plus" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:17:35Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500063
name: Retinopathy of prematurity pre-plus
def: "As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal." [PMID:16009843]
comment: Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. {xref="PMID:16009843"}
synonym: "ROP pre-plus" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:18:12Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500064
name: Retinopathy of prematurity threshold
def: "A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease." [ISBN:978-3-319-52190-9]
synonym: "ROP threshold" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:26:45Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500065
name: Retinopathy of prematurity prethreshold
def: "High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both." [ISBN:978-3-319-52190-9]
synonym: "ROP prethreshold" EXACT HP:0045077 []
is_a: HP:0500049 ! Retinopathy of prematurity
property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:26:57Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500066
name: Latent myopia
def: "The difference between total and manifest myopia." [ORCID:0000-0003-0986-4123]
is_a: HP:0000545 ! Myopia
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:14:19Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500069
name: Paralytic ectropion
def: "A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy." [ISBN-13:9781416029076, ORCID:0000-0003-0986-4123]
is_a: HP:0000656 ! Ectropion
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:37:32Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500070
name: Conjunctival dermolipoma
def: "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus." [ORCID:0000-0003-0986-4123]
is_a: HP:0000502 ! Abnormal conjunctiva morphology
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:48:12Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500072
name: Absolute eccentric fixation
def: "Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation." [ORCID:0000-0003-0986-4123]
is_a: HP:0025549 ! Eccentric visual fixation
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:22:07Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500073
name: Abnormal ocular alignment
def: "Any deviation from the normal ocular alignment." [ORCID:0000-0001-7941-2961]
is_a: HP:0000496 ! Abnormality of eye movement
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:50:33Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500074
name: Dissociated vertical deviation
def: "An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering." [ISBN-13:978-0199679980]
comment: Dissociated vertical deviation (DVD ) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. {xref="ISBN-13:978-0199679980", xref="ORCID:0000-0003-0986-4123"}
is_a: HP:0500073 ! Abnormal ocular alignment
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:53:08Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500075
name: Dissociated horizontal deviation
def: "A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes." [PMID:18427617]
is_a: HP:0500073 ! Abnormal ocular alignment
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:53:28Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500076
name: Alternating hypertropia
def: "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards." [ORCID:0000-0003-0986-4123]
is_a: HP:0025586 ! Hypertropia
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:13:10Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500077
name: Alternating hyperphoria
def: "A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards." [ORCID:0000-0003-0986-4123]
is_a: HP:0025585 ! Hyperphoria
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:15:24Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500078
name: Alternating hypotropia
def: "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards." [ORCID:0000-0003-0986-4123]
is_a: HP:0025584 ! Hypotropia
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:22:54Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500079
name: Alternating hypophoria
def: "A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards." [ORCID:0000-0003-0986-4123]
is_a: HP:0031725 ! Hypophoria
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:24:11Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500081
name: Pseudophakia
def: "The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL)." [PMID:28358301]
is_a: HP:0000517 ! Abnormality of the lens
property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T20:00:29Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500086
name: Optic nerve gray crescent
def: "Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas." [PMID:24862768]
comment: This type of disc rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. {xref="PMID:24862768"}
synonym: "Temporal gray pigmentary crescent" EXACT []
is_a: HP:0012511 ! Temporal optic disc pallor
property_value: http://purl.org/dc/elements/1.1/date 2018-03-20T19:55:34Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500087
name: Peripapillary atrophy
def: "Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve." [PMID:20920826]
is_a: HP:0012512 ! Diffuse optic disc pallor
property_value: http://purl.org/dc/elements/1.1/date 2018-03-20T20:01:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500088
name: Foveal depigmentation
def: "Loss of pigment in the fovea centralis." [PMID:24023426]
is_a: HP:0012643 ! Foveal hypopigmentation
property_value: http://purl.org/dc/elements/1.1/date 2018-03-20T20:30:24Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500089
name: Optic nerve sheath meningioma
def: "A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2." [ISBN-13:978-0199552641]
is_a: HP:0002858 ! Meningioma
property_value: http://purl.org/dc/elements/1.1/date 2018-03-20T20:36:12Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500090
name: Periocular capillary hemangioma
def: "A capillary hemangioma surrounding the eyeball but within the orbit." [PMID:20616917]
synonym: "Peri-ocular capillary hemangioma" EXACT []
is_a: HP:0005306 ! Capillary hemangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T14:45:09Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500091
name: Lymphangioma of the orbit
def: "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage." [ISBN-13:978-0199679980]
is_a: HP:0030670 ! Hamartoma of the orbital region
is_a: HP:0100764 ! Lymphangioma
property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T14:55:41Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500092
name: Orbital rhabdomyosarcoma
def: "A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit." []
is_a: HP:0002859 ! Rhabdomyosarcoma
property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T15:11:41Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500093
name: Food allergy
def: "Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods." [PMID:27069254, PMID:27069841]
synonym: "Food allergy" EXACT layperson []
synonym: "IgE-mediated food allergy" EXACT []
synonym: "Immunoglobulin E-mediated food allergy" EXACT []
is_a: HP:0012393 ! Allergy
property_value: http://purl.org/dc/elements/1.1/date 2018-04-27T19:35:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500094
name: Latex allergy
def: "Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis." [PMID:15327474]
is_a: HP:0012393 ! Allergy
property_value: http://purl.org/dc/elements/1.1/date 2018-04-27T19:47:57Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500095
name: Food-induced anaphylaxis
def: "Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food." [PMID:16461139]
is_a: HP:0100845 ! Anaphylactic shock
property_value: http://purl.org/dc/elements/1.1/date 2018-04-27T19:55:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500096
name: Venom-induced anaphylaxis
def: "A form of anaphylaxis that is triggered by exposure to venom." [PMID:21458655]
is_a: HP:0100845 ! Anaphylactic shock
property_value: http://purl.org/dc/elements/1.1/date 2018-04-27T20:09:07Z xsd:dateTime
created_by: ORCID:0000-0001-7941-2961

[Term]
id: HP:0500097
name: Stool xenobiotic
def: "Presence of xenobiotic in stool." []
is_a: HP:0031838 ! Presence of xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:42:31Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500098
name: Meconium xenobiotic
def: "Presence of a xenobiotic in meconium." []
is_a: HP:0500097 ! Stool xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:43:07Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500099
name: Hair xenobiotic
def: "Presence of xenobiotic in hair." []
is_a: HP:0031838 ! Presence of xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:44:10Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500100
name: Plasma/serum xenobiotic
def: "Presence of a xenobiotic in plasma and/or serum." []
is_a: HP:0410172 ! Blood xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:45:51Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500101
name: Gastric fluid xenobiotic
def: "Presence of a xenobiotic in gastric fluid." []
is_a: HP:0031838 ! Presence of xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:46:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500104
name: Decreased diastolic blood pressure
def: "Abnormal decrease in diastolic blood pressure." [PMID:21947466]
synonym: "Decreased diastolic BP" EXACT HP:0045077 []
synonym: "Reduced diastolic blood pressure." EXACT []
is_a: HP:0002615 ! Hypotension
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T13:58:31Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500105
name: Decreased systolic blood pressure
def: "Abnormal decrease in systolic blood pressure." [PMID:21947466]
synonym: "Decreased systolic BP" EXACT HP:0045077 []
synonym: "Reduced systolic blood pressure" EXACT []
is_a: HP:0002615 ! Hypotension
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T14:02:09Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500106
name: Isolated systolic hypertension
def: "Elevated systolic blood pressure without an elevated blood pressure." [PMID:21947466]
comment: Isolated systolic hypertension or an elevated systolic blood pressure without an elevated diastolic blood pressure is a known risk factor for incident heart failure in older adults. {xref="PMID:21947466"}
is_a: HP:0004421 ! Elevated systolic blood pressure
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T14:04:14Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500107
name: Isolated diastolic hypotension
def: "A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg)." [PMID:21947466]
comment: Isolated diastolic hypotension is a risk factor for incident heart failure. {xref="PMID:21947466"}
is_a: HP:0500104 ! Decreased diastolic blood pressure
property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T14:06:56Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500108
name: Positive urine cocaine test
def: "Detection of cocaine or its major metabolite, benzoylecgonine, in urine." []
comment: Cocaine is an illicit stimulant that has a high potential for abuse and addiction.
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T15:07:40Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500109
name: Positive urine barbiturate test
def: "Detection of barbiturate metabolites such as Phenobarbital in urine." [ORCID:0000-0001-7941-2961]
comment: Barbiturates are central nervous depressants. They can reduce heart rate, breathing, and blood pressure. {xref="PMID:26339207"}
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T15:19:29Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500110
name: Positive urine cannabinoid test
def: "Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine." []
comment: Cannabis (marijuana, hashish) is the most widely used illegal drug in the world. The primary psychoactive component in cannabis is delta9-tetrahydrocannabinol (THC), which is rapidly metabolized to equipotent 11-hydroxy-THC (11-OH-THC) and non-psychoactive 11-nor-9-carboxy- delta9-tetrahydrocannabinol (THCCOOH). {xref="PMID:21134021"}
synonym: "Positive urine marijuana test" EXACT layperson []
synonym: "Postive urine pot test" EXACT layperson []
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T15:40:37Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500111
name: Positive urine benzodiazepines test
def: "Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine." []
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T16:04:20Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500112
name: Positive urine amphetamine test
def: "Detection of amphetamine or its metabolites in urine." []
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T16:49:42Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500113
name: Positive urine opioid test
def: "Detection of opioids or opioid metabolites in urine." []
comment: Opiates are the natural or synthetic drugs that have a morphine-like pharmacological action. Medically, opiates are used primarily for relief of pain. Opiates include morphine and drugs structurally similar to morphine (eg, codeine, hydrocodone, hydromorphone, oxycodone).
is_a: HP:0031840 ! Urine xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T17:20:19Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500114
name: Abnormal stool urobilinogen concentration
def: "Abnormal concentration of urobilinogen present in the stool." [ORCID:0000-0001-7941-2961]
is_a: HP:0031685 ! Abnormal stool composition
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T14:59:44Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500115
name: Increased stool urobilinogen concentration
def: "An increased amount of urobilinogen present in the stool." [ORCID:0000-0001-7941-2961]
comment: Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. {xref="HPO:probinson"}
is_a: HP:0500114 ! Abnormal stool urobilinogen concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T15:00:15Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500116
name: Positive blood barbiturate test
def: "Detection of barbiturate metabolites such as Phenobarbital in blood." [ORCID:0000-0001-7941-2961]
is_a: HP:0410172 ! Blood xenobiotic
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T15:10:44Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500117
name: Abnormal CSF urate concentration
def: "Abnormal concentration of urate in the cerebrospinal fluid (CSF)." [ORCID:0000-0001-7941-2961]
comment: Urate is largely excluded from the brain under non-inflammatory conditions but increases in particular conditions such as Guillain-Barre Syndrome and bacterial meningitis. {xref="PMID:15571231"}
is_a: HP:0025454 ! Abnormal CSF metabolite level
property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T15:35:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500132
name: Hypovalinemia
def: "A decreased amount of valine in the blood." [https://orcid.org/0000-0001-7941-2961]
synonym: "Low blood valine concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0010914 ! Abnormal circulating valine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T14:47:05Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500133
name: Hypotyrosinemia
def: "An decreased concentration of tyrosine in the blood." [https://orcid.org/0000-0001-7941-2961]
synonym: "Decreased tyrosine in blood" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
synonym: "Low blood tyrosine concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0010917 ! Abnormal circulating tyrosine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T15:01:56Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500134
name: Hypertryptophanemia
def: "An increased amount of tryptophan in the blood." [https://orcid.org/0000-0001-7941-2961]
synonym: "High blood tryptophan concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
synonym: "Increased tryptophan in blood" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0004365 ! Abnormal circulating tryptophan concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T15:09:12Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500135
name: Hypotryptophanemia
def: "A decreased amount of tryptophan in the blood." [https://orcid.org/0000-0001-7941-2961]
synonym: "Decreased tryptophan in blood" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
synonym: "Low blood tryptophan concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0004365 ! Abnormal circulating tryptophan concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T15:10:31Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500136
name: Hypothreoninemia
def: "A decreased amount of threonine in the blood." [https://orcid.org/0000-0001-7941-2961]
synonym: "Decreased circulating threonine levels" EXACT []
synonym: "Decreased threonine blood levels" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
synonym: "Low blood threonine concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0010900 ! Abnormal circulating threonine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T16:07:19Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500138
name: Hyperserinemia
def: "An increased amount of serine in the blood." []
synonym: "Elevated circulating serine levels" EXACT []
synonym: "High blood serine levels" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
synonym: "Increased serine blood concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961]
is_a: HP:0012278 ! Abnormal circulating serine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T16:54:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500139
name: Hypoprolinemia
def: "A decreased amount of proline in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood proline levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood proline concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010907 ! Abnormal circulating proline concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T19:35:50Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500140
name: Decreased circulating hydroxyproline concentration
def: "A decreased amount of hydroxyproline in the blood." [PMID:4690509]
synonym: "Decreased hydroxyproline in the blood" EXACT layperson [PMID:4690509]
synonym: "Low level of hydroxyproline in the blood" EXACT layperson [PMID:4690509]
is_a: HP:0010907 ! Abnormal circulating proline concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T19:43:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500141
name: Hypophenylalaninemia
def: "A decreased amount of phenylalanine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood phenylalanine" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood phenylalanine" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T19:58:21Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500142
name: Hypolysinemia
def: "A decreased amount of lysine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood lysine" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood lysine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010908 ! Abnormal circulating lysine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T20:04:58Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500143
name: Hypoleucinemia
def: "Decreased amount of leucine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood concentration of leucine" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood leucine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0004357 ! Abnormal circulating leucine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T13:17:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500144
name: Hypoisoleucinemia
def: "A decreased amount of isoleucine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood isoleucine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood isoleucine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010912 ! Abnormal circulating isoleucine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T13:22:24Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500145
name: Hypohistidinemia
def: "A decreased amount of histidine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood histidine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood histidine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010904 ! Abnormal circulating histidine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T13:28:34Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500147
name: Hypoglutaminemia
def: "Decreased amount of glutamine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood glutamine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood glutamine level" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010903 ! Abnormal circulating glutamine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:11:16Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500148
name: Abnormal circulating glutamate concentration
def: "Any deviation from the normal concentration of glutamate in the blood circulation." []
synonym: "Abnormality of glutamate metabolism" EXACT []
is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:22:57Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500149
name: Hyperglutamatemia
def: "An increased amount of glutamate in the blood." [PMID:22949847]
comment: Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. {xref="PMID:22949847"}
synonym: "High blood glutamate levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Increased blood glutamate concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0500148 ! Abnormal circulating glutamate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:29:35Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500150
name: Hypoglutamatemia
def: "A decreased amount of glutamate in the blood." [PMID:22949847]
comment: Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. {xref="PMID:22949847"}
synonym: "Decreased blood glutamate concentrations" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood glutamate levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0500148 ! Abnormal circulating glutamate concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:29:47Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500151
name: Hypercystinemia
def: "An increased amount of cystine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "High blood cystine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Increased blood cystine concentraions" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010918 ! Abnormal circulating cysteine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:59:26Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500152
name: Hypocystinemia
def: "A decreased amount of cystine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood cystine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood cystine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010918 ! Abnormal circulating cysteine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:59:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500153
name: Hyperargininemia
def: "An increased amount of arginine levels in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "High blood arginine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Increased blood arginine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010909 ! Abnormal circulating arginine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T14:45:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500154
name: Hypoalaninemia
def: "A decreased amount of alanine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood alanine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood alanine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0010916 ! Abnormal circulating alanine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T14:55:51Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500155
name: Abnormal circulating asparagine concentration
def: "Any deviation from the normal concentration of asparagine in the blood circulation." [http://orcid.org/0000-0001-7941-2961]
comment: Asparagine is a polar, aliphatic amino acid.
synonym: "Abnormality of asparagine metabolism" EXACT []
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:06:56Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500156
name: Hyperasparaginemia
def: "An increased amount of asparagine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "High blood asaparagine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Increased blood asparagine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0500155 ! Abnormal circulating asparagine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:12:27Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500157
name: Hypoasparaginemia
def: "A decreased amount of asparagine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood asparagine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood asparagine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0500155 ! Abnormal circulating asparagine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:12:38Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500158
name: Abnormal circulating aspartic acid concentration
def: "Any deviation from the normal concentration of aspartate in the blood circulation." [ORCID:0000-0001-7941-2961]
comment: Aspartate is classified as an acidic amino acid.
synonym: "Abnormal circulating aspartate concentration" EXACT []
is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:26:40Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500159
name: Increased level of circulating aspartic acid
def: "An increased amount of aspartic acid in the blood." [PMID:7353275]
synonym: "High blood aspartic acid levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Increased blood aspartic acid" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0500158 ! Abnormal circulating aspartic acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:38:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500160
name: Abnormal circulating carnosine concentration
def: "Any deviation from the normal concentration of carnosine in the blood circulation." [ORCID:0000-0001-7941-2961, PMID:20017611]
comment: Carnosine is a neuroprotective dipeptide consisting of beta-alanine and L-histidine.
synonym: "Abnormality of carnosine metabolism" EXACT []
is_a: HP:0003112 ! Abnormality of serum amino acid level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:52:07Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500161
name: Increased level of carnosine in blood
def: "An increased amount of carnosine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "High blood carnosine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Increased blood carnosine concenrtation" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0500160 ! Abnormal circulating carnosine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T16:07:32Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500162
name: Decreased level of carnosine in blood
def: "A decreased amount of carnosine in bood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood carnosine concentraion" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood carnosine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0500160 ! Abnormal circulating carnosine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T16:11:06Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500163
name: Hypoornithinemia
def: "An abnormal decrease in ornithine in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Decreased blood ornithine concentrations" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Low blood ornithine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0012025 ! Abnormal circulating ornithine concentration
property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T13:25:49Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500164
name: Abnormal blood carbon dioxide level
def: "An abnormality of carbon dioxide (CO2) in the arterial blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal blood carbon dioxide level" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Abnormal CO2 levels in blood" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0012415 ! Abnormal blood gas level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-17T15:09:16Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500165
name: Abnormal blood oxygen level
def: "An abnormality of the partial pressure of oxygen in the arterial blood." [HPO:probinson]
synonym: "Abnormal blood O2 level" EXACT HP:0045077 []
synonym: "Abnormal blood oxygen levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Abnromal O2 blood concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0012415 ! Abnormal blood gas level
property_value: http://purl.org/dc/elements/1.1/date 2018-10-17T15:14:35Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500166
name: Abnormal circulating gastrin level
def: "An abnormal concentration of gastrin in the blood." [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0003117 ! Abnormal circulating hormone level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-05T18:46:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500167
name: Hypergastrinemia
def: "An elevated amount of gastrin in the blood." [http://orcid.org/0000-0001-7941-2961]
synonym: "Elevated gastrin in the blood" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
synonym: "Increased blood gastrin" EXACT layperson [http://orcid.org/0000-0001-7941-2961]
is_a: HP:0500166 ! Abnormal circulating gastrin level
property_value: http://purl.org/dc/elements/1.1/date 2018-11-05T18:51:20Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500170
name: Abnormal concentration of acylcarnitine in the urine
def: "An abnormal amount of acylcarnitine in the urine." [http://orcid.org/0000-0001-7941-2961]
comment: Combined, the total daily bile and urine production of acylcarnitine is <200 micromol. {xref="PMID:23258903"}
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2018-11-05T19:19:05Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500173
name: Reflex asystolic syncope
def: "A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure." [PMID:23814085]
synonym: "Reflex anoxic seizure" EXACT [PMID:23814085]
synonym: "Reflex anoxic seizures" EXACT [PMID:23814085]
is_a: HP:0001279 ! Syncope
property_value: http://purl.org/dc/elements/1.1/date 2018-11-20T13:57:33Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500180
name: Abnormal circulating amino sulfonic acid concentration
is_a: HP:0032180 ! Abnormal circulating metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-22T17:26:10Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500181
name: Hypertaurinemia
def: "An increased amount of taurine in the blood." []
synonym: "Elevated serum taurine levels" EXACT []
synonym: "Increased circulating taurine levels in the blood" EXACT []
is_a: HP:0500180 ! Abnormal circulating amino sulfonic acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-22T17:28:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500182
name: Hypotaurinemia
def: "A decreased amount of taurine in the blood." []
synonym: "Decreased circulating taurine levels" EXACT []
synonym: "Lower blood levels of taurine" EXACT []
synonym: "Reduced taurine levels in the blood" EXACT []
is_a: HP:0500180 ! Abnormal circulating amino sulfonic acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-22T17:29:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500183
name: Abnormal CSF carboxylic acid concentration
def: "Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid." []
is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:15:53Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500184
name: Abnormal CSF amino acid concentration
def: "Any deviation from the normal concentration of amino acids in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal amino acid levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500183 ! Abnormal CSF carboxylic acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:20:22Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500185
name: Abnormal CSF branched chain amino acid concentration
def: "Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal branched-chain amino acid levels in cerbrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:24:13Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500186
name: Abnormal CSF valine concentration
def: "Any deviation from the normal concentration of valine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal valine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500185 ! Abnormal CSF branched chain amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:28:13Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500187
name: Increased CSF valine concentration
def: "Any increased amount from normal of valine in the cerebrospinal fluid." [PMID:715764]
synonym: "High valine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500186 ! Abnormal CSF valine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:37:57Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500188
name: Decreased CSF valine concentration
def: "Any decreased amount from normal of valine in the cerebrospinal fluid." [PMID:715764]
synonym: "Low valine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500186 ! Abnormal CSF valine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:40:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500189
name: Abnormal CSF leucine concentration
def: "Any deviation from the normal concentration of leucine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal leucine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500185 ! Abnormal CSF branched chain amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:52:19Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500190
name: Decreased CSF leucine concentration
def: "Abnormally decreased levels of leucine in the cerebrospinal fluid." [PMID:715764]
synonym: "Low leucine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500189 ! Abnormal CSF leucine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:52:49Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500191
name: Increased CSF leucine concentration
def: "Abnormally increased levels of leucine in cerebrospinal fluid." [PMID:715764]
synonym: "High leucine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500189 ! Abnormal CSF leucine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:53:12Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500192
name: Abnormal CSF isoleucine concentration
def: "Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal isoleucine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500185 ! Abnormal CSF branched chain amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:24:44Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500193
name: Increased CSF isoleucine concentration
def: "Abnormally increased levels of isoleucine in cerebrospinal fluid." [PMID:715764]
synonym: "High levels of isoleucine in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500192 ! Abnormal CSF isoleucine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:25:11Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500194
name: Decreased CSF isoleucine concentration
def: "Abnormally decreased levels of isoleucine in cerebrospinal fluid." [PMID:715764]
synonym: "Low levels of isoleucine in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500192 ! Abnormal CSF isoleucine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:25:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500195
name: Abnormal CSF glutamine family amino acid concentration
def: "Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal glutamine family amino acid levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:41:53Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500196
name: Abnormal CSF glutamine concentration
def: "Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal glutamine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500195 ! Abnormal CSF glutamine family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:42:34Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500197
name: Increased CSF glutamine concentration
def: "Abnormally increased levels of glutamine in cerebrospinal fluid." [PMID:715764]
synonym: "High glutamine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500196 ! Abnormal CSF glutamine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:43:02Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500198
name: Decreased CSF glutamine concentration
def: "Abnormally decreased levels of glutamine in cerebrospinal fluid." [PMID:715764]
synonym: "Low glutamine levels in cerebrospinal fluid" EXACT []
is_a: HP:0500196 ! Abnormal CSF glutamine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:43:22Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500199
name: Abnormal CSF glutamate concentration
def: "Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal glutamic acid levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500195 ! Abnormal CSF glutamine family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:56:56Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500200
name: Increased CSF glutamate concentration
def: "Abnormally increased levels of glutamic acid in cerebrospinal fluid." [PMID:715764]
synonym: "High glutamic acid levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500199 ! Abnormal CSF glutamate concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:57:13Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500201
name: Decreased CSF glutamate concentration
def: "Abnormally decreased levels of glutamic acid in cerebrospinal fluid." [PMID:715764]
synonym: "Low glutamic acid levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500199 ! Abnormal CSF glutamate concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:57:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500202
name: Abnormal CSF arginine concentration
def: "Any deviation from the normal concentration of arginine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal arginine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500195 ! Abnormal CSF glutamine family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T17:12:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500203
name: Increased CSF arginine concentration
def: "Abnormally increased levels of arginine in cerebrospinal fluid." [PMID:715764]
synonym: "High arginine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500202 ! Abnormal CSF arginine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T17:12:38Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500204
name: Decreased CSF arginine concentration
def: "Abnormally decreased levels of arginine in cerebrospinal fluid." [PMID:715764]
synonym: "Low arginine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500202 ! Abnormal CSF arginine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T17:12:54Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500205
name: Abnormal CSF aspartate family amino acid concentration
def: "Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal aspartate-family amino acid levels in cerebrospinal fluid" EXACT []
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:30:37Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500206
name: Abnormal CSF lysine concentration
def: "Any deviation from the normal concentration of lysine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal lysine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500205 ! Abnormal CSF aspartate family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:31:42Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500207
name: Decreased CSF lysine concentration
def: "Abnormally decreased levels of lysine in cerebrospinal fluid." [PMID:715764]
synonym: "Low lysine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500206 ! Abnormal CSF lysine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:31:54Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500208
name: Increased CSF lysine concentration
def: "Abnormally increased levels of lysine in cerebrospinal fluid." []
synonym: "High lysine levels in cerebrospinal fluid" EXACT []
is_a: HP:0500206 ! Abnormal CSF lysine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:32:16Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500209
name: Abnormal CSF methionine concentration
def: "Any deviation from the normal concentration of methionine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal methionine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500205 ! Abnormal CSF aspartate family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:58:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500210
name: Increased CSF methionine concentration
def: "Abnormally increased levels of methionine in cerebrospinal fluid." [PMID:715764]
synonym: "High methionine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500209 ! Abnormal CSF methionine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:58:44Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500211
name: Abnormal CSF threonine concentration
def: "Any deviation from the normal concentration of threonine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal threonine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500205 ! Abnormal CSF aspartate family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:08:53Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500212
name: Increased CSF threonine concentration
def: "Abnormally increased levels of threonine in cerebrospinal fluid." [PMID:715764]
synonym: "High threonine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500211 ! Abnormal CSF threonine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:09:32Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500213
name: Decreased CSF threonine concentration
def: "Abnormally decreased levels of threonine in cerebrospinal fluid." [PMID:715764]
synonym: "Low threonine levels in the cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500211 ! Abnormal CSF threonine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:10:14Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500214
name: Abnormal CSF aromatic amino acid concentration
def: "Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal aromatic amino acid levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:28:05Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500215
name: Abnormal CSF phenylalanine concentration
def: "Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal phenylalanine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500214 ! Abnormal CSF aromatic amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:28:51Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500216
name: Abnormal CSF aspartate concentration
def: "Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid." []
synonym: "Abnormal aspartic acid levels in cerebrospinal fluid" EXACT []
synonym: "Abnormal CSF aspartic acid concentration" EXACT []
is_a: HP:0500205 ! Abnormal CSF aspartate family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:31:26Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500217
name: Increased CSF aspartate concentration
def: "Abnormally increased levels of aspartic acid in cerebrospinal fluid." [PMID:715764]
synonym: "High aspartic acid levels in cerebrospinal fluid" EXACT [PMID:715764]
synonym: "Increased CSF aspartic acid concentration" EXACT [PMID:715764]
is_a: HP:0500216 ! Abnormal CSF aspartate concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:32:03Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500218
name: Abnormal CSF tryptophan concentration
def: "Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal tryptophan levels in cerebrospinal fluid" EXACT []
is_a: HP:0500214 ! Abnormal CSF aromatic amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:44:06Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500219
name: Abnormal CSF tyrosine concentration
def: "Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal tyrosine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500214 ! Abnormal CSF aromatic amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:48:03Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500220
name: Increased CSF tyrosine concentration
def: "Abnormally increased levels of tyrosine in cerebrospinal fluid." [PMID:715764]
synonym: "High tyrosine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500219 ! Abnormal CSF tyrosine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:53:00Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500221
name: Decreased CSF tyrosine concentration
def: "Abnormally decreased levels of tyrosine in cerebrospinal fluid." [PMID:715764]
synonym: "Low tyrosine levels in the cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500219 ! Abnormal CSF tyrosine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:53:22Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500222
name: Increased CSF tryptophan concentration
def: "Abnormally increased levels of tryptophan in cerebrospinal fluid." [PMID:715764]
synonym: "High tryptophan levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500218 ! Abnormal CSF tryptophan concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:07:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500223
name: Increased CSF phenylalanine concentration
def: "Abnormally increased levels of phenylalanine in cerebrospinal fluid." [PMID:715764]
synonym: "High phenylalanine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500215 ! Abnormal CSF phenylalanine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:13:37Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500224
name: Decreased CSF phenylalanine concentration
def: "Abnormally decreased levels of phenylalanine in cerebrospinal fluid." [PMID:715764]
synonym: "Low phenylalanine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500215 ! Abnormal CSF phenylalanine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:13:51Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500225
name: Abnormal CSF serine family amino acid concentration
def: "Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal serine-family amino acid levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:27:34Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500226
name: Abnormal CSF serine concentration
def: "Any deviation from the normal concentration of serine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal serine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500225 ! Abnormal CSF serine family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:30:42Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500227
name: Increased CSF serine concentration
def: "Abnormally increased levels of serine in cerebrospinal fluid." [PMID:715764]
synonym: "High serine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500226 ! Abnormal CSF serine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:32:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500228
name: Decreased CSF serine concentration
def: "Abnormally decreased levels of serine in cerebrospinal fluid." [PMID:715764]
synonym: "Low serine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500226 ! Abnormal CSF serine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:32:46Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500229
name: Abnormal CSF glycine concentration
def: "Any deviation from the normal concentration of glycine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal glycine levels in cerebrospinal fluid." EXACT [PMID:715764]
is_a: HP:0500225 ! Abnormal CSF serine family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:40:09Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500230
name: Increased CSF glycine concentration
def: "Abnormally increased levels of glycine in cerebrospinal fluid." [PMID:715764]
synonym: "High glycine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500229 ! Abnormal CSF glycine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:40:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500231
name: Abnormal CSF pyruvate family amino acid concentration
def: "Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid." []
synonym: "Abnormal pyruvate-family amino acid levels in cerebrospinal fluid" EXACT []
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:53:35Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500232
name: Abnormal CSF alanine concentration
def: "Any deviation from the normal concentration of alanine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal alanine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500231 ! Abnormal CSF pyruvate family amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:53:52Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500233
name: Increased CSF alanine concentration
def: "Abnormally increased levels of alanine in cerebrospinal fluid." [PMID:715764]
synonym: "High alanine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500232 ! Abnormal CSF alanine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:55:23Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500234
name: Decreased CSF alanine concentration
def: "Abnormally decreased levels of alanine in cerebrospinal fluid." [PMID:715764]
synonym: "Low alanine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500232 ! Abnormal CSF alanine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:55:37Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500235
name: Abnormal CSF histidine concentration
def: "Any deviation from the normal concentration of histidine in the cerebrospinal fluid." [PMID:715764]
synonym: "Abnormal histidine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T21:07:30Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500236
name: Increased CSF histidine concentration
def: "Abnormally increased levels of histidine in cerebrospinal fluid." [PMID:715764]
synonym: "High histidine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500235 ! Abnormal CSF histidine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T21:08:11Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500237
name: Decreased CSF histidine concentration
def: "Abnormally decreased levels of histidine in cerebrospinal fluid." [PMID:715764]
synonym: "Low histidine levels in cerebrospinal fluid" EXACT [PMID:715764]
is_a: HP:0500235 ! Abnormal CSF histidine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T21:08:33Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500238
name: Abnormal CSF albumin concentration
def: "Any deviation from the normal concentration of albumin in the cerebrospinal fluid." [PMID:27067000]
synonym: "Abnormal albumin levels in cerebrospinal fluid" EXACT [PMID:27067000]
is_a: HP:0025456 ! Abnormal CSF protein level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:00:29Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500239
name: Increased CSF albumin concentration
comment: Abnormally increased levels of albumin in cerebrospinal fluid. {xref="PMID:27067000"}
synonym: "High albumin levels in cerebrospinal fluid" EXACT [PMID:27067000]
is_a: HP:0500238 ! Abnormal CSF albumin concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:00:54Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500240
name: Abnormal CSF carnosine concentration
def: "Any deviation from the normal concentration of carnosine in the cerebrospinal fluid." [PMID:16341596]
synonym: "Abnormal carnosine levels in cerebrospinal fluid" EXACT [PMID:16341596]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:25:43Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500241
name: Abnormal CSF homocarnosine concentration
def: "Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid." [PMID:16341596]
synonym: "Abnormal homocarnosine levels in cerebrospinal fluid" EXACT [PMID:16341596]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:26:01Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500242
name: Increased CSF homocarnosine concentration
def: "Abnormally increased levels of homocarnosine in cerebrospinal fluid." [PMID:16341596]
synonym: "High homocarnosine levels in cerebrospinal fluid" EXACT [PMID:16341596]
is_a: HP:0500241 ! Abnormal CSF homocarnosine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:26:24Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500243
name: Abnormal CSF ornithine concentration
def: "Any deviation from the normal concentration of ornithine in the cerebrospinal fluid." [PMID:20551690]
synonym: "Abnormal ornithine levels in cerebrospinal fluid" EXACT [PMID:20551690]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:36:15Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500244
name: Increased CSF ornithine concentration
def: "Abnormally increased levels of ornithine in cerebrospinal fluid." [PMID:20551690]
synonym: "High ornithine levels in cerebrospinal fluid" EXACT [PMID:20551690]
is_a: HP:0500243 ! Abnormal CSF ornithine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:36:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500245
name: Abnormal CSF citrulline concentration
def: "Any deviation from the normal concentration of citrulline in the cerebrospinal fluid." [PMID:16793028]
synonym: "Abnormal citrulline levels in cerebrospinal fluid" EXACT [PMID:16793028]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:48:42Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500246
name: Increased CSF citrulline concentration
def: "Abnormally increased levels of citrulline in cerebrospinal fluid." [PMID:16793028]
synonym: "High citrulline levels in cerebrospinal fluid" EXACT [PMID:16793028]
is_a: HP:0500245 ! Abnormal CSF citrulline concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:49:01Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500247
name: Abnormal CSF alpha-aminobutyrate concentration
def: "Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid." [PMID:3397910]
synonym: "Abnormal alpha-aminobutyrate levels in cerebrospinal fluid" EXACT [PMID:3397910]
is_a: HP:0500184 ! Abnormal CSF amino acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:59:10Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500248
name: Increased CSF alpha-aminobutyrate concentration
def: "Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid." [PMID:3397910]
synonym: "High alpha-aminobutyrate levels in cerebrospinal fluid" EXACT [PMID:3397910]
is_a: HP:0500247 ! Abnormal CSF alpha-aminobutyrate concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:59:28Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500249
name: Abnormal circulating ethanolamine concentration
def: "Any deviation from the normal concentration of ethanolamine in circulation." [PMID:28785375]
synonym: "Abnormal ethanolamine levels in the blood" EXACT [PMID:28785375]
is_a: HP:0003112 ! Abnormality of serum amino acid level
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T16:08:51Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500250
name: Increased circulating ethanolamine concentration
def: "Abnormally increased levels of ethanolamine in circulation." [PMID:28785375]
synonym: "High ethanolamine levels in the blood" EXACT [PMID:28785375]
is_a: HP:0500249 ! Abnormal circulating ethanolamine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T16:09:12Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500251
name: Abnormal urine sebacic acid concentration
def: "Abnormal concentration of sebacic acid in the urine." [PMID:25051233]
synonym: "Abnormal urine decanedioic acid concentration" EXACT []
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T19:58:13Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500252
name: Increased urine sebacic acid concentration
def: "Elevated concentration of sebacic acid in the urine." [PMID:25051233]
synonym: "Increased urine decanedioic acid concentration" EXACT []
is_a: HP:0500251 ! Abnormal urine sebacic acid concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T20:03:22Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500253
name: Increased level of gamma-aminobutyric acid in urine
def: "Elevated concentration of gamma-aminobutyric acid in the urine." [PMID:11121859]
is_a: HP:0003355 ! Aminoaciduria
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T20:23:10Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500254
name: Abnormal urine hexanoylglycine concentration
def: "Abnormal concentration of hexanoylglycine in the urine." [PMID:2775902]
synonym: "Abnormal urinary N-hexanoylglycine levels" EXACT [PMID:2775902]
is_a: HP:0003110 ! Abnormality of urine homeostasis
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T20:56:21Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500255
name: Increased level of hexanoylglycine in urine
def: "Elevated concentration of hexanoylglycine in the urine." [PMID:2775902]
synonym: "Elevated urinary N-hexanoylglycine concentration" EXACT [PMID:2775902]
is_a: HP:0500254 ! Abnormal urine hexanoylglycine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T21:01:41Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500256
name: Abnormal urine isobutyrylglycine concentration
def: "Abnormal concentration of isobutyrylglycine in the urine." [PMID:28053874]
synonym: "Abnormal urinary isobutyrylglycine levels" EXACT [PMID:28053874]
is_a: HP:0012073 ! Abnormal urinary acylglycine profile
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T21:14:32Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0500257
name: Increased urine isobutyrylglycine concentration
def: "Elevated concentration of isobutyrylglycine in the urine." [PMID:28053874]
synonym: "High urinary isobutyrylglycine levels" EXACT [PMID:28053874]
is_a: HP:0500256 ! Abnormal urine isobutyrylglycine concentration
property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T21:15:36Z xsd:dateTime
created_by: http://orcid.org/0000-0001-7941-2961

[Term]
id: HP:0550003
name: Proximal scleroderma
def: "Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk." [PMID:3954464, RGD:gthayman]
is_a: HP:0100324 ! Scleroderma
property_value: http://purl.org/dc/elements/1.1/date 2017-08-02T22:02:40Z xsd:dateTime
created_by: http://orcid.org/0000-0002-6387-4317

[Term]
id: HP:0550004
name: Verruca plana
def: "Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals." [HPO:ucbasharo]
synonym: "Flat wart" EXACT layperson []
is_a: HP:0200043 ! Verrucae
property_value: http://purl.org/dc/elements/1.1/date 2017-08-03T19:50:21Z xsd:dateTime
created_by: ORCID:0000-0002-6387-4317

[Term]
id: HP:0550005
name: Bilateral basilar pulmonary fibrosis
def: "It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis." [PMID:7378088, RGD:gthayman]
synonym: "Lung disease with systemic sclerosis" EXACT []
synonym: "Scleroderma lung disease" EXACT []
synonym: "Scleroderma of lung" EXACT []
is_a: HP:0002206 ! Pulmonary fibrosis
property_value: http://purl.org/dc/elements/1.1/date 2017-08-03T19:57:54Z xsd:dateTime
created_by: ORCID:0000-0002-6387-4317

[Term]
id: HP:3000001
name: obsolete Abnormal heart morphology
is_obsolete: true
replaced_by: HP:0001627

[Term]
id: HP:3000002
name: Abnormal inner ear epithelium morphology
def: "Any structural anomaly of an inner ear epithelium." [GOC:TermGenie]
xref: UMLS:C4073211
is_a: HP:0011390 ! Morphological abnormality of the inner ear
created_by: haendel
creation_date: 2014-07-15T23:41:38Z

[Term]
id: HP:3000003
name: Abnormal mandibular ramus morphology
def: "An abnormality of a mandibular ramus." [GOC:TermGenie]
synonym: "Abnormality of mandibular ramus" EXACT []
xref: UMLS:C4073212
is_a: HP:0000163 ! Abnormal oral cavity morphology
is_a: HP:0000277 ! Abnormality of the mandible
created_by: vasilevs
creation_date: 2015-02-26T03:38:57Z

[Term]
id: HP:3000004
name: Abnormality of frontalis muscle belly
def: "An abnormality of a frontalis muscle belly." [GOC:TermGenie]
xref: UMLS:C4073213
is_a: HP:0000290 ! Abnormality of the forehead
is_a: HP:0040172 ! Abnormality of occipitofrontalis muscle
created_by: vasilevs
creation_date: 2015-02-26T03:42:54Z

[Term]
id: HP:3000005
name: Abnormality of masseter muscle
def: "An abnormality of a masseter muscle." [GOC:TermGenie]
xref: UMLS:C4073214
is_a: HP:0410011 ! Abnormality of masticatory muscle
created_by: vasilevs
creation_date: 2015-02-26T03:43:00Z

[Term]
id: HP:3000006
name: Abnormality of medial pterygoid muscle
def: "An abnormality of a medial pterygoid muscle." [GOC:TermGenie]
xref: UMLS:C4073215
is_a: HP:0410011 ! Abnormality of masticatory muscle
created_by: vasilevs
creation_date: 2015-02-26T03:43:06Z

[Term]
id: HP:3000007
name: Abnormality of mentalis muscle
def: "An abnormality of a mentalis muscle." [GOC:TermGenie]
xref: UMLS:C4073216
is_a: HP:0000306 ! Abnormality of the chin
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-02-26T03:43:12Z

[Term]
id: HP:3000008
name: Abnormality of mylohyoid muscle
def: "An abnormality of a mylohyoid muscle." [GOC:TermGenie]
xref: UMLS:C4073217
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0410012 ! Abnormal mouth floor morphology
is_a: HP:0410013 ! Abnormality of the submandibular region
created_by: vasilevs
creation_date: 2015-02-26T03:43:17Z

[Term]
id: HP:3000009
name: Abnormality of nasalis muscle
def: "An abnormality of a nasalis muscle." [GOC:TermGenie]
xref: UMLS:C4073218
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0430018 ! Abnormality of nasal musculature
created_by: vasilevs
creation_date: 2015-02-26T03:55:52Z

[Term]
id: HP:3000010
name: Abnormality of orbicularis oris muscle
def: "An abnormality of an orbicularis oris muscle." [GOC:TermGenie]
xref: UMLS:C4073219
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-02-26T03:55:58Z

[Term]
id: HP:3000011
name: Abnormality of palatoglossus muscle
def: "An abnormality of a palatoglossus muscle." [GOC:TermGenie]
xref: UMLS:C4073220
is_a: HP:0040174 ! Abnormality of extrinsic muscle of tongue
is_a: HP:0430014 ! Abnormality of musculature of soft palate
created_by: vasilevs
creation_date: 2015-02-26T03:56:03Z

[Term]
id: HP:3000012
name: Abnormality of palatopharyngeus muscle
def: "An abnormality of a palatopharyngeus muscle." [GOC:TermGenie]
xref: UMLS:C4073221
is_a: HP:0430014 ! Abnormality of musculature of soft palate
is_a: HP:0430015 ! Abnormality of musculature of pharynx
created_by: vasilevs
creation_date: 2015-02-26T03:56:09Z

[Term]
id: HP:3000013
name: Abnormality of platysma
def: "An abnormality of the platysma muscle." [GOC:TermGenie, ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the platysma muscle" EXACT []
xref: UMLS:C4073222
is_a: HP:0000301 ! Abnormality of facial musculature
is_a: HP:0001574 ! Abnormality of the integument
is_a: HP:0011006 ! Abnormality of the musculature of the neck
created_by: vasilevs
creation_date: 2015-02-26T03:56:14Z

[Term]
id: HP:3000014
name: Abnormality of procerus muscle
def: "An abnormality of a procerus." [GOC:TermGenie]
xref: UMLS:C4073223
is_a: HP:0000366 ! Abnormality of the nose
is_a: HP:0430018 ! Abnormality of nasal musculature
created_by: vasilevs
creation_date: 2015-02-26T03:58:45Z

[Term]
id: HP:3000015
name: Abnormality of risorius muscle
def: "An abnormality of a risorius muscle." [GOC:TermGenie]
xref: UMLS:C4073224
is_a: HP:0004426 ! Abnormality of the cheek
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-02-26T03:58:51Z

[Term]
id: HP:3000016
name: Abnormality of styloglossus muscle
def: "An abnormality of the styloglossus muscle." [GOC:TermGenie, ORCID:0000-0001-5889-4463]
xref: UMLS:C4073225
is_a: HP:0040174 ! Abnormality of extrinsic muscle of tongue
created_by: vasilevs
creation_date: 2015-02-26T03:58:56Z

[Term]
id: HP:3000017
name: Abnormality of temporalis muscle
def: "An abnormality of a temporalis muscle." [GOC:TermGenie]
xref: UMLS:C4073226
is_a: HP:0410011 ! Abnormality of masticatory muscle
created_by: vasilevs
creation_date: 2015-02-26T03:59:01Z

[Term]
id: HP:3000018
name: Abnormality of zygomaticus major muscle
def: "An abnormality of a zygomaticus major muscle." [GOC:TermGenie]
xref: UMLS:C4073227
is_a: HP:0004426 ! Abnormality of the cheek
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-02-26T03:59:07Z

[Term]
id: HP:3000019
name: Abnormality of buccal mucosa
def: "An abnormality of a buccal mucosa." [GOC:TermGenie]
synonym: "Abnormality of cheek mucosa" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of inside lining of cheek" EXACT layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073228
is_a: HP:0004426 ! Abnormality of the cheek
created_by: vasilevs
creation_date: 2015-08-07T00:13:17Z

[Term]
id: HP:3000020
name: Abnormality of zygomaticus minor muscle
def: "An abnormality of a zygomaticus minor muscle." [GOC:TermGenie]
xref: UMLS:C4073229
is_a: HP:0004426 ! Abnormality of the cheek
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-08-07T00:15:45Z

[Term]
id: HP:3000021
name: Abnormality of buccal fat pad
def: "An abnormality of a buccal fat pad." [GOC:TermGenie]
xref: UMLS:C4073230
is_a: HP:0004426 ! Abnormality of the cheek
created_by: vasilevs
creation_date: 2015-08-07T00:15:49Z

[Term]
id: HP:3000022
name: Abnormality of cartilage of external ear
def: "An abnormality of a cartilage of external ear." [GOC:TermGenie]
xref: UMLS:C4073231
is_a: HP:0000356 ! Abnormality of the outer ear
is_a: HP:0410007 ! Abnormality of cartilage morphology
created_by: vasilevs
creation_date: 2015-08-07T00:15:54Z

[Term]
id: HP:3000023
name: Abnormality of angular artery
def: "An abnormality of the angular artery, the terminal branch of the facial artery." [GOC:TermGenie, ORCID:0000-0001-5889-4463]
xref: UMLS:C4073232
is_a: HP:3000024 ! Abnormal facial artery morphology
created_by: vasilevs
creation_date: 2015-08-07T00:15:58Z

[Term]
id: HP:3000024
name: Abnormal facial artery morphology
def: "Any structural abnormality of a facial artery, one of the branches of the external carotid artery." [GOC:TermGenie, ORCID:0000-0001-5889-4463]
synonym: "Abnormality of facial artery" EXACT []
xref: UMLS:C4073233
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: vasilevs
creation_date: 2015-08-07T00:16:03Z

[Term]
id: HP:3000025
name: Abnormality of ciliary ganglion
def: "An abnormality of a ciliary ganglion." [GOC:TermGenie]
xref: UMLS:C4073234
is_a: HP:0410016 ! Abnormality of cranial ganglion
created_by: vasilevs
creation_date: 2015-08-07T00:16:07Z

[Term]
id: HP:3000026
name: obsolete Abnormality of common carotid artery plus branches
is_obsolete: true
consider: HP:0430021

[Term]
id: HP:3000027
name: Abnormality of buccinator muscle
def: "An abnormality of a buccinator muscle." [GOC:TermGenie]
xref: UMLS:C4073236
is_a: HP:0004426 ! Abnormality of the cheek
created_by: vasilevs
creation_date: 2015-08-07T00:16:16Z

[Term]
id: HP:3000028
name: Abnormality of depressor anguli oris muscle
def: "An abnormality of a depressor anguli oris muscle." [GOC:TermGenie]
xref: UMLS:C4073237
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-08-07T00:16:20Z

[Term]
id: HP:3000029
name: Abnormality of depressor labii inferioris
def: "An abnormality of a depressor labii inferioris." [GOC:TermGenie]
synonym: "Abnormality of depressor labii inferioris muscle" EXACT []
xref: UMLS:C4073238
is_a: HP:0000306 ! Abnormality of the chin
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-08-07T00:16:25Z

[Term]
id: HP:3000030
name: Abnormality of bony orbit of skull
def: "An abnormality of an orbit of skull." [GOC:TermGenie]
synonym: "Abnormality of bones of the orbit of the skull" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the bony eye socket" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of the orbital bones of skull" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073239
is_a: HP:0000315 ! Abnormality of the orbital region
is_a: HP:0000929 ! Abnormality of the skull
created_by: vasilevs
creation_date: 2015-08-07T00:27:07Z

[Term]
id: HP:3000031
name: Abnormality of anterior ethmoidal artery
def: "An abnormality of an anterior ethmoidal artery." [GOC:TermGenie]
xref: UMLS:C4073287
is_a: HP:0410006 ! Abnormality of ophthalmic artery
created_by: vasilevs
creation_date: 2015-08-07T00:27:12Z

[Term]
id: HP:3000032
name: Abnormality of central retinal artery
def: "An abnormality of a central retinal artery." [GOC:TermGenie]
comment: The central retinal artery is a small branch of the ophthalmic artery that extends forward a short distance before entering the meningeal sheath of the nerve about 10 to 12 mm behind the globe of the eye.
xref: UMLS:C4073240
is_a: HP:0410006 ! Abnormality of ophthalmic artery
created_by: vasilevs
creation_date: 2015-08-07T00:27:17Z

[Term]
id: HP:3000033
name: Abnormality of nasopharyngeal adenoids
def: "Any abnormality of nasopharyngeal adenoids." []
comment: The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. {xref="GOC:TermGenie", xref="ORCID:0000-0001-5889-4463"}
synonym: "Abnormality of adenoids" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of nasopharyngeal tonsil" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Abnormality of pharyngeal tonsil" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073241
is_a: HP:0001739 ! Abnormality of the nasopharynx
is_a: HP:0100765 ! Abnormality of the tonsils
created_by: vasilevs
creation_date: 2015-08-07T00:27:21Z

[Term]
id: HP:3000034
name: Abnormality of cartilage of nasal septum
def: "An abnormality of a cartilage of nasal septum." [GOC:TermGenie]
synonym: "Abnormality of cartilage of nasal septum" EXACT layperson []
synonym: "Abnormality of cartilage of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463]
synonym: "Anomaly of cartilage of nasal septum" EXACT [ORCID:0000-0001-5889-4463]
synonym: "Deformity of cartilage of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463]
synonym: "Malformation of cartilage of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073242
is_a: HP:0000419 ! Abnormality of the nasal septum
is_a: HP:0010937 ! Abnormality of the nasal skeleton
is_a: HP:0410007 ! Abnormality of cartilage morphology
created_by: vasilevs
creation_date: 2015-08-07T00:27:26Z

[Term]
id: HP:3000035
name: Abnormality of cervical plexus
def: "Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck." [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073243
is_a: HP:0410010 ! Abnormality of somatic nerve plexus
created_by: vasilevs
creation_date: 2015-08-07T00:35:58Z

[Term]
id: HP:3000036
name: Abnormality of head blood vessel
def: "An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head." [GOC:TermGenie, ORCID:0000-0001-5889-4463]
synonym: "Abnormality of blood vessel of head" EXACT layperson []
synonym: "Abnormality of head blood vessel" EXACT layperson []
synonym: "Abnormality of vasculature of head" EXACT []
xref: UMLS:C4073244
is_a: HP:0000234 ! Abnormality of the head
is_a: HP:0002597 ! Abnormality of the vasculature
created_by: vasilevs
creation_date: 2015-08-07T00:36:02Z

[Term]
id: HP:3000037
name: Abnormality of neck blood vessel
def: "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck." [GOC:TermGenie, ORCID:0000-0001-5889-4463]
synonym: "Abnormality of blood vessel of neck" EXACT layperson []
synonym: "Abnormality of neck blood vessel" EXACT layperson []
synonym: "Abnormality of the cervical blood vessels" EXACT []
synonym: "Abnormality of the cervical vasculature" EXACT []
synonym: "Abnormality of the vasculature of the neck" EXACT []
xref: UMLS:C4073245
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0002597 ! Abnormality of the vasculature
created_by: vasilevs
creation_date: 2015-08-07T00:36:06Z

[Term]
id: HP:3000038
name: Abnormal cricoid cartilage morphology
def: "Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx." [GOC:TermGenie]
synonym: "Abnormality of cricoid cartilage" EXACT []
xref: UMLS:C4073246
is_a: HP:0025423 ! Abnormal larynx morphology
is_a: HP:0410007 ! Abnormality of cartilage morphology
created_by: vasilevs
creation_date: 2015-08-07T00:36:11Z

[Term]
id: HP:3000039
name: Abnormality of dorsal nasal artery
def: "An abnormality of a dorsal nasal artery." [GOC:TermGenie]
xref: UMLS:C4073247
is_a: HP:0410006 ! Abnormality of ophthalmic artery
created_by: vasilevs
creation_date: 2015-08-07T00:36:15Z

[Term]
id: HP:3000040
name: Abnormality of ethmoid sinus
def: "An abnormality of an ethmoid sinus." [GOC:TermGenie]
synonym: "Abnormality of ethmoidal air cells" EXACT []
xref: UMLS:C4073248
is_a: HP:0000245 ! Abnormality of the paranasal sinuses
created_by: vasilevs
creation_date: 2015-08-07T00:36:19Z

[Term]
id: HP:3000041
name: Abnormality of external carotid artery
def: "An abnormality of an external carotid artery." [GOC:TermGenie]
synonym: "Abnormality of carotid artery" BROAD [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
synonym: "Disorder of carotid artery" BROAD [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463]
xref: UMLS:C4073249
is_a: HP:0005344 ! Abnormal carotid artery morphology
created_by: vasilevs
creation_date: 2015-08-07T00:36:24Z

[Term]
id: HP:3000042
name: Abnormal jugular vein morphology
def: "Any structural abnormality of a jugular vein." [GOC:TermGenie]
synonym: "Abnormality of jugular vein" EXACT layperson []
xref: UMLS:C4073250
is_a: HP:0002624 ! Abnormal venous morphology
is_a: HP:3000037 ! Abnormality of neck blood vessel
created_by: vasilevs
creation_date: 2015-08-07T01:04:39Z

[Term]
id: HP:3000043
name: Abnormal facial vein morphology
def: "An abnormality of a facial vein." [GOC:TermGenie]
synonym: "Abnormal vein of face" EXACT layperson [ORCID:0000-0001-5208-3432]
synonym: "Abnormality of facial vein" EXACT layperson []
xref: UMLS:C4073251
is_a: HP:0002624 ! Abnormal venous morphology
is_a: HP:3000036 ! Abnormality of head blood vessel
is_a: HP:3000037 ! Abnormality of neck blood vessel
created_by: vasilevs
creation_date: 2015-08-07T01:04:44Z

[Term]
id: HP:3000044
name: Abnormality of frontal process of maxilla
def: "An abnormality of a frontal process of the maxilla bone." [GOC:TermGenie, ORCID:0000-0001-5889-4463]
xref: UMLS:C4073252
is_a: HP:0000326 ! Abnormality of the maxilla
created_by: vasilevs
creation_date: 2015-08-07T01:04:49Z

[Term]
id: HP:3000045
name: Abnormality of genioglossus muscle
def: "An abnormality of a genioglossus muscle." [GOC:TermGenie]
xref: UMLS:C4073253
is_a: HP:0040174 ! Abnormality of extrinsic muscle of tongue
created_by: vasilevs
creation_date: 2015-08-07T01:04:53Z

[Term]
id: HP:3000046
name: Abnormality of geniohyoid muscle
def: "An abnormality of a geniohyoid muscle." [GOC:TermGenie]
xref: UMLS:C4073254
is_a: HP:0011006 ! Abnormality of the musculature of the neck
created_by: vasilevs
creation_date: 2015-08-07T01:04:58Z

[Term]
id: HP:3000047
name: Abnormal glossopharyngeal nerve morphology
def: "Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX)." [GOC:TermGenie]
comment: The glossopharyngeal nerve originates in the medulla oblongata. It Innervates the oropharynx, carotid body and sinus, as well as the posterior third of the tongue (where it mediates taste sensation), the middle ear cavity and the Eustachian tube. Additionally, it innervates the stylopharyngeus muscle of the pharynx.
synonym: "Abnormality of glossopharyngeal nerve" EXACT []
xref: UMLS:C4073255
is_a: HP:0001291 ! Abnormal cranial nerve morphology
is_a: HP:0045010 ! Abnormality of peripheral nerves
created_by: vasilevs
creation_date: 2015-08-07T01:08:41Z

[Term]
id: HP:3000048
name: Abnormal great auricular nerve morphology
def: "Any structural anomaly of a great auricular nerve." [GOC:TermGenie, PMID:26504711]
comment: The great auricular nerve originates from the cervical plexus and ascends to the posterior inferior region of the parotid gland, where it divides into several small branches. The nerve supplies sensation for an extensive area of the face including the skin over the parotid gland and the mastoid process and the surface of the external ear. The great auricular nerve winds around the posterior aspect of the sternocleidomastoid muscle. After perforating the deep fascia, it ascends upon the sternocleidomastoid muscle beneath the platysma to the parotid gland, where it divides into an anterior and a posterior branch. The anterior branch provides sensory innervation to the skin overlying the parotid gland and communicates with the facial nerve in the substance of the gland. The posterior branch innervates the skin over the mastoid and the posterior surface of the auricle except at its upper part.
xref: UMLS:C4073256
is_a: HP:0045010 ! Abnormality of peripheral nerves
created_by: vasilevs
creation_date: 2015-08-07T01:08:45Z

[Term]
id: HP:3000049
name: Abnormal greater palatine artery morphology
def: "An abnormality of a greater palatine artery." [GOC:TermGenie]
comment: The greater palatine artery is a terminal branch of the maxillary artery that supplies blood to the hard palate and nasal septum.
synonym: "Abnormality of greater palatine artery" EXACT []
xref: UMLS:C4073257
is_a: HP:0011004 ! Abnormal systemic arterial morphology
created_by: vasilevs
creation_date: 2015-08-07T01:08:50Z

[Term]
id: HP:3000050
name: Abnormality of odontoid tissue
def: "An abnormality of an odontoid tissue." [GOC:TermGenie]
synonym: "Abnormality of hard tissues of teeth" EXACT []
synonym: "Abnormality of tooth hard tissue" EXACT []
xref: UMLS:C4073258
is_a: HP:0000924 ! Abnormality of the skeletal system
is_a: HP:0003549 ! Abnormality of connective tissue
created_by: vasilevs
creation_date: 2015-08-07T01:08:54Z

[Term]
id: HP:3000051
name: Abnormality of hyoglossus muscle
def: "An abnormality of a hyoglossus muscle." [GOC:TermGenie]
xref: UMLS:C4073259
is_a: HP:0003011 ! Abnormality of the musculature
is_a: HP:0030809 ! Abnormal tongue morphology
created_by: vasilevs
creation_date: 2015-08-07T01:08:58Z

[Term]
id: HP:3000052
name: Abnormality of hyoid bone
def: "An abnormality of a hyoid bone." [GOC:TermGenie]
xref: UMLS:C4073260
is_a: HP:0011842 ! Abnormality of skeletal morphology
created_by: vasilevs
creation_date: 2015-08-07T01:09:03Z

[Term]
id: HP:3000053
name: Abnormality of hypopharynx
def: "An abnormality of a hypopharynx." [GOC:TermGenie]
synonym: "Abnormality of hypopharynx" EXACT layperson []
synonym: "Abnormality of lower pharynx" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073261
is_a: HP:0000600 ! Abnormality of the pharynx
created_by: vasilevs
creation_date: 2015-08-07T01:09:07Z

[Term]
id: HP:3000054
name: Abnormality of inferior alveolar artery
def: "An abnormality of an inferior alveolar artery." [GOC:TermGenie]
xref: UMLS:C4073262
is_a: HP:0031816 ! Abnormal oral morphology
is_a: HP:3000036 ! Abnormality of head blood vessel
created_by: vasilevs
creation_date: 2015-08-07T01:09:11Z

[Term]
id: HP:3000055
name: Abnormality of inferior alveolar nerve
def: "An abnormality of an inferior alveolar nerve." [GOC:TermGenie]
xref: UMLS:C4073263
is_a: HP:0001291 ! Abnormal cranial nerve morphology
is_a: HP:0045010 ! Abnormality of peripheral nerves
created_by: vasilevs
creation_date: 2015-08-07T01:10:08Z

[Term]
id: HP:3000056
name: Abnormality of artery of lower lip
def: "An abnormality of an artery of lower lip." [GOC:TermGenie]
synonym: "Abnormality of the inferior labial artery" EXACT []
xref: UMLS:C4073264
is_a: HP:3000024 ! Abnormal facial artery morphology
created_by: vasilevs
creation_date: 2015-08-07T03:18:34Z

[Term]
id: HP:3000057
name: Abnormality of inferior oblique extraocular muscle
def: "An abnormality of an inferior oblique extraocular muscle." [GOC:TermGenie]
synonym: "Abnormality of the inferior oblique muscle" EXACT []
xref: UMLS:C4073265
is_a: HP:0008049 ! Abnormality of the extraocular muscles
created_by: vasilevs
creation_date: 2015-08-07T03:18:39Z

[Term]
id: HP:3000058
name: Abnormality of inferior rectus extraocular muscle
def: "An abnormality of an inferior rectus extraocular muscle." [GOC:TermGenie]
xref: UMLS:C4073266
is_a: HP:0008049 ! Abnormality of the extraocular muscles
created_by: vasilevs
creation_date: 2015-08-07T03:18:44Z

[Term]
id: HP:3000059
name: Abnormal inferior thyroid vein morphology
def: "An abnormality of an inferior thyroid vein." [GOC:TermGenie]
synonym: "Abnormality of inferior thyroid vein" EXACT []
xref: UMLS:C4073267
is_a: HP:0002624 ! Abnormal venous morphology
created_by: vasilevs
creation_date: 2015-08-07T03:18:48Z

[Term]
id: HP:3000060
name: Abnormality of infraorbital artery
def: "An abnormality of an infraorbital artery." [GOC:TermGenie]
xref: UMLS:C4073268
is_a: HP:0002597 ! Abnormality of the vasculature
created_by: vasilevs
creation_date: 2015-08-07T03:18:53Z

[Term]
id: HP:3000061
name: Abnormality of infra-orbital nerve
def: "A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal." [GOC:TermGenie, PMID:26564432]
synonym: "Abnormality of the infraorbital nerve" EXACT []
xref: UMLS:C4073269
is_a: HP:0010824 ! Abnormal fifth cranial nerve morphology
created_by: vasilevs
creation_date: 2015-08-07T03:18:57Z

[Term]
id: HP:3000062
name: Abnormal internal carotid artery morphology
def: "An abnormality of an internal carotid artery." [GOC:TermGenie]
synonym: "Abnormality of internal carotid artery" EXACT []
xref: UMLS:C1860488
is_a: HP:0005344 ! Abnormal carotid artery morphology
is_a: HP:3000036 ! Abnormality of head blood vessel
created_by: vasilevs
creation_date: 2015-08-07T03:19:02Z

[Term]
id: HP:3000063
name: Abnormality of internal jugular vein
def: "An abnormality of an internal jugular vein." [GOC:TermGenie]
xref: UMLS:C4073270
is_a: HP:3000042 ! Abnormal jugular vein morphology
created_by: vasilevs
creation_date: 2015-08-07T03:19:06Z

[Term]
id: HP:3000064
name: Abnormality of intrinsic muscle of tongue
def: "An abnormality of an intrinsic muscle of tongue." [GOC:TermGenie]
synonym: "Abnormality of intrinsic lingual muscle" EXACT [ORCID:0000-0001-5889-4463]
xref: UMLS:C4073271
is_a: HP:0040173 ! Abnormality of the tongue muscle
created_by: vasilevs
creation_date: 2015-08-07T03:19:10Z

[Term]
id: HP:3000065
name: Abnormal lacrimal artery morphology
def: "An abnormality of a lacrimal artery." [GOC:TermGenie]
synonym: "Abnormality of lacrimal artery" EXACT []
xref: UMLS:C4073272
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:3000036 ! Abnormality of head blood vessel
created_by: vasilevs
creation_date: 2015-08-07T03:38:25Z

[Term]
id: HP:3000066
name: Abnormal lacrimal sac morphology
def: "An abnormality of a lacrimal sac." [GOC:TermGenie]
synonym: "Abnormality of lacrimal sac" EXACT []
xref: UMLS:C4073273
is_a: HP:0000614 ! Abnormal nasolacrimal system morphology
created_by: vasilevs
creation_date: 2015-08-07T03:38:31Z

[Term]
id: HP:3000067
name: Abnormal lateral cricoarytenoid muscle morphology
def: "Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway." [GOC:TermGenie]
synonym: "Abnormal anterior cricoarytenoid muscle morphology" EXACT []
synonym: "Abnormality of lateral crico-arytenoid" EXACT []
synonym: "Abnormality of lateral cricoarytenoid muscle" EXACT []
xref: UMLS:C4073274
is_a: HP:0000464 ! Abnormality of the neck
is_a: HP:0011805 ! Abnormal muscle morphology
is_a: HP:0025423 ! Abnormal larynx morphology
created_by: vasilevs
creation_date: 2015-08-07T03:38:35Z

[Term]
id: HP:3000068
name: Abnormality of lateral pterygoid muscle
def: "An abnormality of a lateral pterygoid muscle." [GOC:TermGenie]
xref: UMLS:C4073275
is_a: HP:0410011 ! Abnormality of masticatory muscle
created_by: vasilevs
creation_date: 2015-08-07T03:38:40Z

[Term]
id: HP:3000069
name: Abnormality of lateral rectus extra-ocular muscle
def: "An abnormality of a lateral rectus extra-ocular muscle." [GOC:TermGenie]
xref: UMLS:C4073276
is_a: HP:0008049 ! Abnormality of the extraocular muscles
created_by: vasilevs
creation_date: 2015-08-07T03:38:44Z

[Term]
id: HP:3000070
name: Abnormality of levator anguli oris
def: "An abnormality of a levator anguli oris." [GOC:TermGenie]
xref: UMLS:C4073277
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-08-07T03:38:48Z

[Term]
id: HP:3000071
name: Abnormality of levator labii superioris
def: "An abnormality of a levator labii superioris." [GOC:TermGenie]
xref: UMLS:C4073278
is_a: HP:0430019 ! Abnormality of muscle of facial expression
created_by: vasilevs
creation_date: 2015-08-07T03:38:52Z

[Term]
id: HP:3000072
name: Abnormal levator palpebrae superioris morphology
def: "An abnormality of a levator palpebrae superioris." [GOC:TermGenie]
xref: UMLS:C4073279
is_a: HP:0000492 ! Abnormal eyelid morphology
is_a: HP:0008049 ! Abnormality of the extraocular muscles
created_by: vasilevs
creation_date: 2015-08-07T03:38:57Z

[Term]
id: HP:3000073
name: Abnormality of levator veli palatini muscle
def: "An abnormality of a levator veli palatini." [GOC:TermGenie]
xref: UMLS:C4073280
is_a: HP:0430014 ! Abnormality of musculature of soft palate
created_by: vasilevs
creation_date: 2015-08-07T03:39:01Z

[Term]
id: HP:3000074
name: Abnormal lingual artery morphology
def: "Any structural abnormality of a lingual artery." [GOC:TermGenie]
synonym: "Abnormality of lingual artery" EXACT []
xref: UMLS:C4073281
is_a: HP:0011004 ! Abnormal systemic arterial morphology
is_a: HP:0030809 ! Abnormal tongue morphology
is_a: HP:3000036 ! Abnormality of head blood vessel
created_by: vasilevs
creation_date: 2015-08-07T03:39:06Z

[Term]
id: HP:3000075
name: Abnormal lingual nerve morphology
def: "Any structural anomaly of a lingual nerve." [GOC:TermGenie, PMID:27662622]
comment: The lingual nerve (LN) is one of the two terminal branches of the posterior division of the mandibular nerve. It supplies the general sensation to the mucosa of the anterior two-thirds of the tongue, the sublingual mucosa, the mandibular lingual gingiva and the floor of the mouth.The chorda tympani nerve, a branch of the facial nerve joins this nerve carrying taste fibers from the anterior two third of the tongue and parasympathetic fibers to the submandibular ganglion.
synonym: "Abnormality of lingual nerve" EXACT []
xref: UMLS:C4073282
is_a: HP:0045010 ! Abnormality of peripheral nerves
created_by: vasilevs
creation_date: 2015-08-07T03:39:10Z

[Term]
id: HP:3000076
name: Abnormality of lingual tonsil
def: "An abnormality of a lingual tonsil." [GOC:TermGenie]
xref: UMLS:C4073283
is_a: HP:0030809 ! Abnormal tongue morphology
is_a: HP:0100765 ! Abnormality of the tonsils
created_by: vasilevs
creation_date: 2015-08-07T03:39:15Z

[Term]
id: HP:3000077
name: Abnormal mandible condylar process morphology
def: "An abnormality of a mandible condylar process." [GOC:TermGenie]
synonym: "Abnormality of mandible condylar process" EXACT []
xref: UMLS:C4073284
is_a: HP:0000277 ! Abnormality of the mandible
is_a: HP:0031816 ! Abnormal oral morphology
created_by: vasilevs
creation_date: 2015-08-07T03:39:19Z

[Term]
id: HP:3000078
name: Abnormal mandible coronoid process morphology
def: "An abnormality of a mandible coronoid process." [GOC:TermGenie]
synonym: "Abnormality of mandible coronoid process" EXACT []
xref: UMLS:C4073285
is_a: HP:0000277 ! Abnormality of the mandible
is_a: HP:0031816 ! Abnormal oral morphology
created_by: vasilevs
creation_date: 2015-08-07T03:39:24Z

[Term]
id: HP:3000079
name: Abnormality of mandibular symphysis
def: "A structural abnormality of a mandibular symphysis." [GOC:TermGenie]
synonym: "Abnormality of mandible symphysis" EXACT []
xref: UMLS:C4073286
is_a: HP:0011842 ! Abnormality of skeletal morphology
created_by: vasilevs
creation_date: 2015-08-07T03:39:28Z

