#Format: diseaseId<tab>gene-symbol<tab>gene-id(entrez)<tab>HPO-ID<tab>HPO-term-name
OMIM:604286	SGCB	6443	HP:0003325	Limb-girdle muscle weakness
OMIM:604286	SGCB	6443	HP:0003560	Muscular dystrophy
OMIM:604286	SGCB	6443	HP:0003691	Scapular winging
OMIM:604286	SGCB	6443	HP:0003724	Shoulder girdle muscle atrophy
OMIM:604286	SGCB	6443	HP:0007126	Proximal amyotrophy
OMIM:604286	SGCB	6443	HP:0000007	Autosomal recessive inheritance
OMIM:604286	SGCB	6443	HP:0008988	Pelvic girdle muscle atrophy
OMIM:604286	SGCB	6443	HP:0001644	Dilated cardiomyopathy
OMIM:604286	SGCB	6443	HP:0003236	Elevated serum creatine phosphokinase
OMIM:604286	SGCB	6443	HP:0003707	Calf muscle pseudohypertrophy
OMIM:604286	SGCB	6443	HP:0003621	Juvenile onset
ORPHA:36899	TOR1A	1861	HP:0000716	Depressivity
ORPHA:36899	TOR1A	1861	HP:0025269	Panic attack
ORPHA:36899	TOR1A	1861	HP:0045084	Limb myoclonus
ORPHA:36899	TOR1A	1861	HP:0012075	Personality disorder
ORPHA:36899	TOR1A	1861	HP:0000739	Anxiety
ORPHA:36899	TOR1A	1861	HP:0002356	Writer's cramp
ORPHA:36899	TOR1A	1861	HP:0000473	Torticollis
ORPHA:36899	TOR1A	1861	HP:0000722	Obsessive-compulsive behavior
ORPHA:36899	TOR1A	1861	HP:0010531	Spinal myoclonus
OMIM:145500	PTGIS	5740	HP:0004972	Elevated mean arterial pressure
OMIM:145500	PTGIS	5740	HP:0004421	Elevated systolic blood pressure
OMIM:145500	PTGIS	5740	HP:0005117	Elevated diastolic blood pressure
OMIM:145500	PTGIS	5740	HP:0001426	Multifactorial inheritance
OMIM:251000	MUT	4594	HP:0002013	Vomiting
OMIM:251000	MUT	4594	HP:0001259	Coma
OMIM:251000	MUT	4594	HP:0001882	Leukopenia
OMIM:251000	MUT	4594	HP:0002912	Methylmalonic acidemia
OMIM:251000	MUT	4594	HP:0011695	Cerebellar hemorrhage
OMIM:251000	MUT	4594	HP:0001987	Hyperammonemia
OMIM:251000	MUT	4594	HP:0003774	Stage 5 chronic kidney disease
OMIM:251000	MUT	4594	HP:0001873	Thrombocytopenia
OMIM:251000	MUT	4594	HP:0001290	Generalized hypotonia
OMIM:251000	MUT	4594	HP:0001970	Tubulointerstitial nephritis
OMIM:251000	MUT	4594	HP:0012120	Methylmalonic aciduria
OMIM:251000	MUT	4594	HP:0001944	Dehydration
OMIM:251000	MUT	4594	HP:0002240	Hepatomegaly
OMIM:251000	MUT	4594	HP:0001263	Global developmental delay
OMIM:251000	MUT	4594	HP:0002154	Hyperglycinemia
OMIM:251000	MUT	4594	HP:0001254	Lethargy
OMIM:251000	MUT	4594	HP:0005979	Metabolic ketoacidosis
OMIM:251000	MUT	4594	HP:0001638	Cardiomyopathy
OMIM:251000	MUT	4594	HP:0002188	Delayed CNS myelination
OMIM:251000	MUT	4594	HP:0000007	Autosomal recessive inheritance
OMIM:251000	MUT	4594	HP:0002453	Abnormal globus pallidus morphology
OMIM:251000	MUT	4594	HP:0001508	Failure to thrive
OMIM:251000	MUT	4594	HP:0001733	Pancreatitis
OMIM:613758	SAG	6295	HP:0000533	Chorioretinal atrophy
OMIM:613758	SAG	6295	HP:0000510	Rod-cone dystrophy
OMIM:613758	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613758	SAG	6295	HP:0000580	Pigmentary retinopathy
OMIM:613758	SAG	6295	HP:0000662	Nyctalopia
OMIM:613758	SAG	6295	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude
OMIM:613758	SAG	6295	HP:0000505	Visual impairment
OMIM:614433	CITED2	10370	HP:0001631	Atrial septal defect
OMIM:614433	CITED2	10370	HP:0000006	Autosomal dominant inheritance
ORPHA:391665	LDLR	3949	HP:0005181	Premature coronary artery atherosclerosis
ORPHA:391665	LDLR	3949	HP:0007201	Cerebral artery atherosclerosis
ORPHA:391665	LDLR	3949	HP:0001645	Sudden cardiac death
ORPHA:391665	LDLR	3949	HP:0012373	Abnormal eye physiology
ORPHA:391665	LDLR	3949	HP:0004950	Peripheral arterial stenosis
ORPHA:391665	LDLR	3949	HP:0000822	Hypertension
ORPHA:391665	LDLR	3949	HP:0001397	Hepatic steatosis
ORPHA:391665	LDLR	3949	HP:0030882	Coronary artery aneurysm
ORPHA:391665	LDLR	3949	HP:0010874	Tendon xanthomatosis
ORPHA:391665	LDLR	3949	HP:0002094	Dyspnea
ORPHA:391665	LDLR	3949	HP:0004963	Calcification of the aorta
ORPHA:391665	LDLR	3949	HP:0005162	Left ventricular failure
ORPHA:391665	LDLR	3949	HP:3000062	Abnormal internal carotid artery morphology
ORPHA:391665	LDLR	3949	HP:0012397	Aortic atherosclerosis
ORPHA:391665	LDLR	3949	HP:0001681	Angina pectoris
ORPHA:391665	LDLR	3949	HP:0001138	Optic neuropathy
ORPHA:391665	LDLR	3949	HP:0003141	Increased circulating low-density lipoprotein levels
ORPHA:391665	LDLR	3949	HP:0030148	Heart murmur
ORPHA:391665	LDLR	3949	HP:0003124	Hypercholesterolemia
ORPHA:391665	LDLR	3949	HP:0005177	Premature arteriosclerosis
ORPHA:391665	LDLR	3949	HP:0004381	Supravalvular aortic stenosis
ORPHA:391665	LDLR	3949	HP:0001653	Mitral regurgitation
ORPHA:391665	LDLR	3949	HP:0012638	Abnormality of nervous system physiology
ORPHA:391665	LDLR	3949	HP:0003077	Hyperlipidemia
ORPHA:391665	LDLR	3949	HP:0006693	Myocardial steatosis
ORPHA:391665	LDLR	3949	HP:0002829	Arthralgia
ORPHA:391665	LDLR	3949	HP:0001920	Renal artery stenosis
ORPHA:391665	LDLR	3949	HP:0001658	Myocardial infarction
ORPHA:391665	LDLR	3949	HP:0000799	Renal steatosis
ORPHA:391665	LDLR	3949	HP:0004416	Precocious atherosclerosis
ORPHA:1458	LONP1	9361	HP:0000407	Sensorineural hearing impairment
ORPHA:1458	LONP1	9361	HP:0003196	Short nose
ORPHA:1458	LONP1	9361	HP:0002750	Delayed skeletal maturation
ORPHA:1458	LONP1	9361	HP:0000639	Nystagmus
ORPHA:1458	LONP1	9361	HP:0009901	Crumpled ear
ORPHA:1458	LONP1	9361	HP:0000072	Hydroureter
ORPHA:1458	LONP1	9361	HP:0005242	Extrahepatic biliary duct atresia
ORPHA:1458	LONP1	9361	HP:0006482	Abnormality of dental morphology
ORPHA:1458	LONP1	9361	HP:0000286	Epicanthus
ORPHA:1458	LONP1	9361	HP:0004322	Short stature
ORPHA:1458	LONP1	9361	HP:0000396	Overfolded helix
ORPHA:1458	LONP1	9361	HP:0005930	Abnormality of epiphysis morphology
ORPHA:1458	LONP1	9361	HP:0001252	Muscular hypotonia
ORPHA:1458	LONP1	9361	HP:0005280	Depressed nasal bridge
ORPHA:1458	LONP1	9361	HP:0000518	Cataract
ORPHA:1458	LONP1	9361	HP:0003417	Coronal cleft vertebrae
ORPHA:1458	LONP1	9361	HP:0000508	Ptosis
ORPHA:1458	LONP1	9361	HP:0002650	Scoliosis
ORPHA:1458	LONP1	9361	HP:0000463	Anteverted nares
ORPHA:1458	LONP1	9361	HP:0001629	Ventricular septal defect
ORPHA:1458	LONP1	9361	HP:0000682	Abnormality of dental enamel
ORPHA:1458	LONP1	9361	HP:0004122	Midline defect of the nose
ORPHA:1458	LONP1	9361	HP:0005692	Joint hyperflexibility
ORPHA:1458	LONP1	9361	HP:0001374	Congenital hip dislocation
ORPHA:1458	LONP1	9361	HP:0010049	Short metacarpal
ORPHA:1458	LONP1	9361	HP:0001156	Brachydactyly
ORPHA:1458	LONP1	9361	HP:0000486	Strabismus
ORPHA:1458	LONP1	9361	HP:0000684	Delayed eruption of teeth
ORPHA:1458	LONP1	9361	HP:0001263	Global developmental delay
ORPHA:1458	LONP1	9361	HP:0001600	Abnormality of the larynx
ORPHA:1458	LONP1	9361	HP:0012368	Flat face
OMIM:615468	MALT1	10892	HP:0002721	Immunodeficiency
OMIM:615468	MALT1	10892	HP:0000007	Autosomal recessive inheritance
OMIM:615468	MALT1	10892	HP:0000939	Osteoporosis
OMIM:615468	MALT1	10892	HP:0002750	Delayed skeletal maturation
OMIM:615468	MALT1	10892	HP:0004429	Recurrent viral infections
OMIM:615468	MALT1	10892	HP:0001510	Growth delay
OMIM:615468	MALT1	10892	HP:0002718	Recurrent bacterial infections
ORPHA:79312	MUT	4594	HP:0001297	Stroke
ORPHA:79312	MUT	4594	HP:0001873	Thrombocytopenia
ORPHA:79312	MUT	4594	HP:0001266	Choreoathetosis
ORPHA:79312	MUT	4594	HP:0001744	Splenomegaly
ORPHA:79312	MUT	4594	HP:0001875	Neutropenia
ORPHA:79312	MUT	4594	HP:0002017	Nausea and vomiting
ORPHA:79312	MUT	4594	HP:0000648	Optic atrophy
ORPHA:79312	MUT	4594	HP:0001260	Dysarthria
ORPHA:79312	MUT	4594	HP:0000083	Renal insufficiency
ORPHA:79312	MUT	4594	HP:0002098	Respiratory distress
ORPHA:79312	MUT	4594	HP:0001263	Global developmental delay
ORPHA:79312	MUT	4594	HP:0001249	Intellectual disability
ORPHA:79312	MUT	4594	HP:0002039	Anorexia
ORPHA:79312	MUT	4594	HP:0001508	Failure to thrive
ORPHA:79312	MUT	4594	HP:0001944	Dehydration
ORPHA:79312	MUT	4594	HP:0001250	Seizures
ORPHA:79312	MUT	4594	HP:0001252	Muscular hypotonia
ORPHA:79312	MUT	4594	HP:0001254	Lethargy
ORPHA:79312	MUT	4594	HP:0001903	Anemia
ORPHA:79312	MUT	4594	HP:0001332	Dystonia
ORPHA:79312	MUT	4594	HP:0002240	Hepatomegaly
ORPHA:79312	MUT	4594	HP:0002027	Abdominal pain
ORPHA:79312	MUT	4594	HP:0011968	Feeding difficulties
ORPHA:79312	MUT	4594	HP:0001638	Cardiomyopathy
ORPHA:79312	MUT	4594	HP:0002721	Immunodeficiency
ORPHA:79312	MUT	4594	HP:0001987	Hyperammonemia
ORPHA:79312	MUT	4594	HP:0001733	Pancreatitis
ORPHA:79312	MUT	4594	HP:0001259	Coma
OMIM:306400	CYBB	1536	HP:0007417	Discoid lupus rash
OMIM:306400	CYBB	1536	HP:0002742	Recurrent Klebsiella infections
OMIM:306400	CYBB	1536	HP:0000976	Eczematoid dermatitis
OMIM:306400	CYBB	1536	HP:0002240	Hepatomegaly
OMIM:306400	CYBB	1536	HP:0100658	Cellulitis
OMIM:306400	CYBB	1536	HP:0003203	Negative nitroblue tetrazolium reduction test
OMIM:306400	CYBB	1536	HP:0002955	Granulomatosis
OMIM:306400	CYBB	1536	HP:0001744	Splenomegaly
OMIM:306400	CYBB	1536	HP:0001419	X-linked recessive inheritance
OMIM:306400	CYBB	1536	HP:0002724	Recurrent Aspergillus infections
OMIM:306400	CYBB	1536	HP:0002726	Recurrent Staphylococcus aureus infections
OMIM:306400	CYBB	1536	HP:0005224	Rectal abscess
OMIM:306400	CYBB	1536	HP:0002741	Recurrent Serratia marcescens infections
OMIM:306400	CYBB	1536	HP:0002754	Osteomyelitis
OMIM:306400	CYBB	1536	HP:0003514	Deficiency or absence of cytochrome b(-245)
OMIM:306400	CYBB	1536	HP:0100523	Liver abscess
OMIM:306400	CYBB	1536	HP:0005406	Recurrent bacterial skin infections
OMIM:306400	CYBB	1536	HP:0003621	Juvenile onset
OMIM:306400	CYBB	1536	HP:0002716	Lymphadenopathy
OMIM:306400	CYBB	1536	HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes
OMIM:306400	CYBB	1536	HP:0006532	Recurrent pneumonia
OMIM:306400	CYBB	1536	HP:0002740	Recurrent E. coli infections
OMIM:306400	CYBB	1536	HP:0002840	Lymphadenitis
OMIM:306400	CYBB	1536	HP:0003206	Decreased activity of NADPH oxidase
OMIM:306400	CYBB	1536	HP:0002842	Recurrent Burkholderia cepacia infections
OMIM:604169	DTNA	1837	HP:0001712	Left ventricular hypertrophy
OMIM:604169	DTNA	1837	HP:0001635	Congestive heart failure
OMIM:604169	DTNA	1837	HP:0005110	Atrial fibrillation
OMIM:604169	DTNA	1837	HP:0030682	Left ventricular noncompaction
OMIM:604169	DTNA	1837	HP:0004383	Hypoplastic left heart
OMIM:604169	DTNA	1837	HP:0001653	Mitral regurgitation
OMIM:604169	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:604169	DTNA	1837	HP:0001645	Sudden cardiac death
OMIM:604169	DTNA	1837	HP:0004308	Ventricular arrhythmia
OMIM:604169	DTNA	1837	HP:0001643	Patent ductus arteriosus
OMIM:604169	DTNA	1837	HP:0001629	Ventricular septal defect
OMIM:604169	DTNA	1837	HP:0011664	Left ventricular noncompaction cardiomyopathy
OMIM:268000	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:268000	PDE6G	5148	HP:0001133	Constriction of peripheral visual field
OMIM:268000	PDE6G	5148	HP:0000662	Nyctalopia
ORPHA:2138	SRY	6736	HP:0000046	Scrotal hypoplasia
ORPHA:2138	SRY	6736	HP:0000048	Bifid scrotum
ORPHA:2138	SRY	6736	HP:0012856	Abnormal scrotal rugation
ORPHA:2138	SRY	6736	HP:0000022	Abnormality of male internal genitalia
ORPHA:2138	SRY	6736	HP:0008736	Hypoplasia of penis
ORPHA:2138	SRY	6736	HP:0000047	Hypospadias
ORPHA:2138	SRY	6736	HP:0000130	Abnormality of the uterus
ORPHA:2138	SRY	6736	HP:0010459	True hermaphroditism
ORPHA:2138	SRY	6736	HP:0000144	Decreased fertility
ORPHA:2138	SRY	6736	HP:0000147	Polycystic ovaries
ORPHA:2138	SRY	6736	HP:0100779	Urogenital sinus anomaly
ORPHA:2138	SRY	6736	HP:0000028	Cryptorchidism
OMIM:185500	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:185500	ELN	2006	HP:0004950	Peripheral arterial stenosis
OMIM:185500	ELN	2006	HP:0001642	Pulmonic stenosis
OMIM:185500	ELN	2006	HP:0004381	Supravalvular aortic stenosis
OMIM:185500	ELN	2006	HP:0004415	Pulmonary artery stenosis
OMIM:616212	KATNB1	10300	HP:0001338	Partial agenesis of the corpus callosum
OMIM:616212	KATNB1	10300	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616212	KATNB1	10300	HP:0001302	Pachygyria
OMIM:616212	KATNB1	10300	HP:0002126	Polymicrogyria
OMIM:616212	KATNB1	10300	HP:0000340	Sloping forehead
OMIM:616212	KATNB1	10300	HP:0001270	Motor delay
OMIM:616212	KATNB1	10300	HP:0002509	Limb hypertonia
OMIM:616212	KATNB1	10300	HP:0001250	Seizures
OMIM:616212	KATNB1	10300	HP:0100543	Cognitive impairment
OMIM:616212	KATNB1	10300	HP:0001257	Spasticity
OMIM:616212	KATNB1	10300	HP:0001339	Lissencephaly
OMIM:616212	KATNB1	10300	HP:0000252	Microcephaly
OMIM:616212	KATNB1	10300	HP:0003593	Infantile onset
OMIM:616212	KATNB1	10300	HP:0001347	Hyperreflexia
OMIM:616212	KATNB1	10300	HP:0009879	Cortical gyral simplification
OMIM:616212	KATNB1	10300	HP:0001263	Global developmental delay
OMIM:616212	KATNB1	10300	HP:0002119	Ventriculomegaly
OMIM:616212	KATNB1	10300	HP:0000007	Autosomal recessive inheritance
OMIM:613506	LRRC8A	56262	HP:0000369	Low-set ears
OMIM:613506	LRRC8A	56262	HP:0004432	Agammaglobulinemia
OMIM:613506	LRRC8A	56262	HP:0000286	Epicanthus
OMIM:613506	LRRC8A	56262	HP:0000316	Hypertelorism
OMIM:613506	LRRC8A	56262	HP:0000006	Autosomal dominant inheritance
OMIM:613506	LRRC8A	56262	HP:0000218	High palate
ORPHA:65759	MEGF8	1954	HP:0001513	Obesity
ORPHA:65759	MEGF8	1954	HP:0011304	Broad thumb
ORPHA:65759	MEGF8	1954	HP:0002676	Cloverleaf skull
ORPHA:65759	MEGF8	1954	HP:0001643	Patent ductus arteriosus
ORPHA:65759	MEGF8	1954	HP:0001841	Preaxial foot polydactyly
ORPHA:65759	MEGF8	1954	HP:0002751	Kyphoscoliosis
ORPHA:65759	MEGF8	1954	HP:0002857	Genu valgum
ORPHA:65759	MEGF8	1954	HP:0003241	External genital hypoplasia
ORPHA:65759	MEGF8	1954	HP:0001748	Polysplenia
ORPHA:65759	MEGF8	1954	HP:0001249	Intellectual disability
ORPHA:65759	MEGF8	1954	HP:0000263	Oxycephaly
ORPHA:65759	MEGF8	1954	HP:0001156	Brachydactyly
ORPHA:65759	MEGF8	1954	HP:0001363	Craniosynostosis
ORPHA:65759	MEGF8	1954	HP:0006101	Finger syndactyly
ORPHA:65759	MEGF8	1954	HP:0000481	Abnormality of the cornea
ORPHA:65759	MEGF8	1954	HP:0001537	Umbilical hernia
ORPHA:65759	MEGF8	1954	HP:0001762	Talipes equinovarus
ORPHA:65759	MEGF8	1954	HP:0000028	Cryptorchidism
ORPHA:65759	MEGF8	1954	HP:0001162	Postaxial hand polydactyly
ORPHA:65759	MEGF8	1954	HP:0001770	Toe syndactyly
OMIM:219080	GNAS	2778	HP:0000709	Psychosis
OMIM:219080	GNAS	2778	HP:0000311	Round face
OMIM:219080	GNAS	2778	HP:0003745	Sporadic
OMIM:219080	GNAS	2778	HP:0008231	Macronodular adrenal hyperplasia
OMIM:219080	GNAS	2778	HP:0000978	Bruising susceptibility
OMIM:219080	GNAS	2778	HP:0001065	Striae distensae
OMIM:219080	GNAS	2778	HP:0002664	Neoplasm
OMIM:219080	GNAS	2778	HP:0000939	Osteoporosis
OMIM:219080	GNAS	2778	HP:0000739	Anxiety
OMIM:219080	GNAS	2778	HP:0000963	Thin skin
OMIM:219080	GNAS	2778	HP:0002920	Decreased circulating ACTH level
OMIM:219080	GNAS	2778	HP:0000938	Osteopenia
OMIM:219080	GNAS	2778	HP:0001579	Primary hypercorticolism
OMIM:219080	GNAS	2778	HP:0001575	Mood changes
OMIM:219080	GNAS	2778	HP:0001956	Truncal obesity
OMIM:219080	GNAS	2778	HP:0000716	Depressivity
OMIM:219080	GNAS	2778	HP:0000713	Agitation
OMIM:219080	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:219080	GNAS	2778	HP:0002808	Kyphosis
OMIM:219080	GNAS	2778	HP:0001268	Mental deterioration
OMIM:219080	GNAS	2778	HP:0000822	Hypertension
OMIM:219080	GNAS	2778	HP:0003202	Skeletal muscle atrophy
OMIM:219080	GNAS	2778	HP:0003581	Adult onset
OMIM:614889	IFNGR2	3460	HP:0002721	Immunodeficiency
OMIM:614889	IFNGR2	3460	HP:0011274	Recurrent mycobacterial infections
OMIM:614889	IFNGR2	3460	HP:0000007	Autosomal recessive inheritance
OMIM:228600	ANTXR2	118429	HP:0002797	Osteolysis
OMIM:228600	ANTXR2	118429	HP:0000212	Gingival overgrowth
OMIM:228600	ANTXR2	118429	HP:0001482	Subcutaneous nodule
OMIM:228600	ANTXR2	118429	HP:0005876	Progressive flexion contractures
OMIM:228600	ANTXR2	118429	HP:0003676	Progressive
OMIM:228600	ANTXR2	118429	HP:0000938	Osteopenia
OMIM:228600	ANTXR2	118429	HP:0002719	Recurrent infections
OMIM:228600	ANTXR2	118429	HP:0000280	Coarse facial features
OMIM:228600	ANTXR2	118429	HP:0000939	Osteoporosis
OMIM:228600	ANTXR2	118429	HP:0000007	Autosomal recessive inheritance
OMIM:228600	ANTXR2	118429	HP:0002014	Diarrhea
OMIM:228600	ANTXR2	118429	HP:0000169	Gingival fibromatosis
OMIM:228600	ANTXR2	118429	HP:0003828	Variable expressivity
OMIM:607398	MRAP	56246	HP:0001988	Recurrent hypoglycemia
OMIM:607398	MRAP	56246	HP:0003154	Increased circulating ACTH level
OMIM:607398	MRAP	56246	HP:0008163	Decreased circulating cortisol level
OMIM:607398	MRAP	56246	HP:0000953	Hyperpigmentation of the skin
OMIM:607398	MRAP	56246	HP:0000007	Autosomal recessive inheritance
OMIM:246700	SAR1B	51128	HP:0002013	Vomiting
OMIM:246700	SAR1B	51128	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:246700	SAR1B	51128	HP:0004395	Malnutrition
OMIM:246700	SAR1B	51128	HP:0003073	Hypoalbuminemia
OMIM:246700	SAR1B	51128	HP:0001510	Growth delay
OMIM:246700	SAR1B	51128	HP:0000478	Abnormality of the eye
OMIM:246700	SAR1B	51128	HP:0001249	Intellectual disability
OMIM:246700	SAR1B	51128	HP:0002570	Steatorrhea
OMIM:246700	SAR1B	51128	HP:0003146	Hypocholesterolemia
OMIM:246700	SAR1B	51128	HP:0001508	Failure to thrive
OMIM:246700	SAR1B	51128	HP:0000007	Autosomal recessive inheritance
OMIM:246700	SAR1B	51128	HP:0001315	Reduced tendon reflexes
OMIM:246700	SAR1B	51128	HP:0002014	Diarrhea
OMIM:246700	SAR1B	51128	HP:0002495	Impaired vibratory sensation
OMIM:246700	SAR1B	51128	HP:0003593	Infantile onset
OMIM:246700	SAR1B	51128	HP:0003563	Decreased circulating low-density lipoprotein levels
OMIM:250100	ARSA	410	HP:0011096	Peripheral demyelination
OMIM:250100	ARSA	410	HP:0001249	Intellectual disability
OMIM:250100	ARSA	410	HP:0001260	Dysarthria
OMIM:250100	ARSA	410	HP:0001288	Gait disturbance
OMIM:250100	ARSA	410	HP:0003445	EMG: neuropathic changes
OMIM:250100	ARSA	410	HP:0002922	Increased CSF protein
OMIM:250100	ARSA	410	HP:0000648	Optic atrophy
OMIM:250100	ARSA	410	HP:0005609	Gallbladder dysfunction
OMIM:250100	ARSA	410	HP:0001268	Mental deterioration
OMIM:250100	ARSA	410	HP:0002500	Abnormality of the cerebral white matter
OMIM:250100	ARSA	410	HP:0002072	Chorea
OMIM:250100	ARSA	410	HP:0001251	Ataxia
OMIM:250100	ARSA	410	HP:0002445	Tetraplegia
OMIM:250100	ARSA	410	HP:0002510	Spastic tetraplegia
OMIM:250100	ARSA	410	HP:0002371	Loss of speech
OMIM:250100	ARSA	410	HP:0001347	Hyperreflexia
OMIM:250100	ARSA	410	HP:0001290	Generalized hypotonia
OMIM:250100	ARSA	410	HP:0001082	Cholecystitis
OMIM:250100	ARSA	410	HP:0001265	Hyporeflexia
OMIM:250100	ARSA	410	HP:0000746	Delusions
OMIM:250100	ARSA	410	HP:0000007	Autosomal recessive inheritance
OMIM:250100	ARSA	410	HP:0000762	Decreased nerve conduction velocity
OMIM:250100	ARSA	410	HP:0000020	Urinary incontinence
OMIM:250100	ARSA	410	HP:0007133	Progressive peripheral neuropathy
OMIM:250100	ARSA	410	HP:0001250	Seizures
OMIM:250100	ARSA	410	HP:0000712	Emotional lability
OMIM:250100	ARSA	410	HP:0001332	Dystonia
OMIM:250100	ARSA	410	HP:0000738	Hallucinations
OMIM:250100	ARSA	410	HP:0001283	Bulbar palsy
OMIM:250100	ARSA	410	HP:0003487	Babinski sign
OMIM:607685	PDGFRA	5156	HP:0000989	Pruritus
OMIM:607685	PDGFRA	5156	HP:0005547	Myeloproliferative disorder
OMIM:607685	PDGFRA	5156	HP:0004936	Venous thrombosis
OMIM:607685	PDGFRA	5156	HP:0000707	Abnormality of the nervous system
OMIM:607685	PDGFRA	5156	HP:0001723	Restrictive cardiomyopathy
OMIM:607685	PDGFRA	5156	HP:0003745	Sporadic
OMIM:607685	PDGFRA	5156	HP:0001428	Somatic mutation
OMIM:607685	PDGFRA	5156	HP:0001880	Eosinophilia
OMIM:607685	PDGFRA	5156	HP:0003326	Myalgia
OMIM:607685	PDGFRA	5156	HP:0006685	Endocardial fibrosis
OMIM:607685	PDGFRA	5156	HP:0001744	Splenomegaly
OMIM:607685	PDGFRA	5156	HP:0002240	Hepatomegaly
OMIM:607685	PDGFRA	5156	HP:0002113	Pulmonary infiltrates
OMIM:615537	ADAM10	102	HP:0000006	Autosomal dominant inheritance
OMIM:616509	LSS	4047	HP:0000007	Autosomal recessive inheritance
OMIM:616509	LSS	4047	HP:0000519	Congenital cataract
OMIM:616509	LSS	4047	HP:0000572	Visual loss
OMIM:133239	RNF6	6049	HP:0002860	Squamous cell carcinoma
OMIM:133239	RNF6	6049	HP:0000006	Autosomal dominant inheritance
OMIM:614173	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
OMIM:614173	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:135900	ARID1B	57492	HP:0000252	Microcephaly
OMIM:135900	ARID1B	57492	HP:0000718	Aggressive behavior
OMIM:135900	ARID1B	57492	HP:0000175	Cleft palate
OMIM:135900	ARID1B	57492	HP:0001537	Umbilical hernia
OMIM:135900	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:135900	ARID1B	57492	HP:0000729	Autistic behavior
OMIM:135900	ARID1B	57492	HP:0000023	Inguinal hernia
OMIM:135900	ARID1B	57492	HP:0008398	Hypoplastic fifth fingernail
OMIM:135900	ARID1B	57492	HP:0002205	Recurrent respiratory infections
OMIM:135900	ARID1B	57492	HP:0100391	Short distal phalanx of the 5th toe
OMIM:135900	ARID1B	57492	HP:0000007	Autosomal recessive inheritance
OMIM:135900	ARID1B	57492	HP:0000028	Cryptorchidism
OMIM:135900	ARID1B	57492	HP:0001305	Dandy-Walker malformation
OMIM:135900	ARID1B	57492	HP:0002592	Gastric ulcer
OMIM:135900	ARID1B	57492	HP:0006863	Severe expressive language delay
OMIM:135900	ARID1B	57492	HP:0001643	Patent ductus arteriosus
OMIM:135900	ARID1B	57492	HP:0003812	Phenotypic variability
OMIM:135900	ARID1B	57492	HP:0000483	Astigmatism
OMIM:135900	ARID1B	57492	HP:0000219	Thin upper lip vermilion
OMIM:135900	ARID1B	57492	HP:0000154	Wide mouth
OMIM:135900	ARID1B	57492	HP:0002650	Scoliosis
OMIM:135900	ARID1B	57492	HP:0000280	Coarse facial features
OMIM:135900	ARID1B	57492	HP:0001636	Tetralogy of Fallot
OMIM:135900	ARID1B	57492	HP:0000455	Broad nasal tip
OMIM:135900	ARID1B	57492	HP:0002576	Intussusception
OMIM:135900	ARID1B	57492	HP:0000508	Ptosis
OMIM:135900	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
OMIM:135900	ARID1B	57492	HP:0001629	Ventricular septal defect
OMIM:135900	ARID1B	57492	HP:0008872	Feeding difficulties in infancy
OMIM:135900	ARID1B	57492	HP:0001263	Global developmental delay
OMIM:135900	ARID1B	57492	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:135900	ARID1B	57492	HP:0000453	Choanal atresia
OMIM:135900	ARID1B	57492	HP:0000505	Visual impairment
OMIM:135900	ARID1B	57492	HP:0002673	Coxa valga
OMIM:135900	ARID1B	57492	HP:0000486	Strabismus
OMIM:135900	ARID1B	57492	HP:0000047	Hypospadias
OMIM:135900	ARID1B	57492	HP:0000369	Low-set ears
OMIM:135900	ARID1B	57492	HP:0000879	Short sternum
OMIM:135900	ARID1B	57492	HP:0006237	Prominent interphalangeal joints
OMIM:135900	ARID1B	57492	HP:0000574	Thick eyebrow
OMIM:135900	ARID1B	57492	HP:0002209	Sparse scalp hair
OMIM:135900	ARID1B	57492	HP:0002566	Intestinal malrotation
OMIM:135900	ARID1B	57492	HP:0002808	Kyphosis
OMIM:135900	ARID1B	57492	HP:0003083	Dislocated radial head
OMIM:135900	ARID1B	57492	HP:0000179	Thick lower lip vermilion
OMIM:135900	ARID1B	57492	HP:0000358	Posteriorly rotated ears
OMIM:135900	ARID1B	57492	HP:0000776	Congenital diaphragmatic hernia
OMIM:135900	ARID1B	57492	HP:0000218	High palate
OMIM:135900	ARID1B	57492	HP:0004227	Short distal phalanx of the 5th finger
OMIM:135900	ARID1B	57492	HP:0001631	Atrial septal defect
OMIM:135900	ARID1B	57492	HP:0001028	Hemangioma
OMIM:135900	ARID1B	57492	HP:0000960	Sacral dimple
OMIM:135900	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:135900	ARID1B	57492	HP:0009747	Lumbosacral hirsutism
OMIM:135900	ARID1B	57492	HP:0000527	Long eyelashes
OMIM:135900	ARID1B	57492	HP:0001511	Intrauterine growth retardation
OMIM:135900	ARID1B	57492	HP:0000151	Aplasia of the uterus
OMIM:135900	ARID1B	57492	HP:0000601	Hypotelorism
OMIM:135900	ARID1B	57492	HP:0005280	Depressed nasal bridge
OMIM:135900	ARID1B	57492	HP:0000365	Hearing impairment
OMIM:135900	ARID1B	57492	HP:0001388	Joint laxity
OMIM:135900	ARID1B	57492	HP:0000086	Ectopic kidney
OMIM:135900	ARID1B	57492	HP:0000965	Cutis marmorata
OMIM:135900	ARID1B	57492	HP:0000639	Nystagmus
OMIM:135900	ARID1B	57492	HP:0003298	Spina bifida occulta
OMIM:135900	ARID1B	57492	HP:0002219	Facial hypertrichosis
OMIM:135900	ARID1B	57492	HP:0002588	Duodenal ulcer
OMIM:135900	ARID1B	57492	HP:0002079	Hypoplasia of the corpus callosum
OMIM:135900	ARID1B	57492	HP:0002750	Delayed skeletal maturation
OMIM:135900	ARID1B	57492	HP:0000089	Renal hypoplasia
OMIM:135900	ARID1B	57492	HP:0000384	Preauricular skin tag
OMIM:135900	ARID1B	57492	HP:0000954	Single transverse palmar crease
OMIM:135900	ARID1B	57492	HP:0001338	Partial agenesis of the corpus callosum
OMIM:135900	ARID1B	57492	HP:0000126	Hydronephrosis
OMIM:135900	ARID1B	57492	HP:0000545	Myopia
OMIM:135900	ARID1B	57492	HP:0008897	Postnatal growth retardation
OMIM:135900	ARID1B	57492	HP:0001250	Seizures
OMIM:135900	ARID1B	57492	HP:0000684	Delayed eruption of teeth
OMIM:135900	ARID1B	57492	HP:0001252	Muscular hypotonia
OMIM:135900	ARID1B	57492	HP:0004322	Short stature
ORPHA:91387	ELN	2006	HP:0000965	Cutis marmorata
ORPHA:91387	ELN	2006	HP:0002326	Transient ischemic attack
ORPHA:91387	ELN	2006	HP:0004959	Descending thoracic aorta aneurysm
ORPHA:91387	ELN	2006	HP:0002140	Ischemic stroke
ORPHA:91387	ELN	2006	HP:0002105	Hemoptysis
ORPHA:91387	ELN	2006	HP:0002616	Aortic root aneurysm
ORPHA:91387	ELN	2006	HP:0001647	Bicuspid aortic valve
ORPHA:91387	ELN	2006	HP:0002138	Subarachnoid hemorrhage
ORPHA:91387	ELN	2006	HP:0002875	Exertional dyspnea
ORPHA:91387	ELN	2006	HP:0000822	Hypertension
ORPHA:91387	ELN	2006	HP:0002686	Prenatal maternal abnormality
ORPHA:91387	ELN	2006	HP:0004950	Peripheral arterial stenosis
ORPHA:91387	ELN	2006	HP:0000978	Bruising susceptibility
ORPHA:91387	ELN	2006	HP:0002705	High, narrow palate
ORPHA:91387	ELN	2006	HP:0012763	Paroxysmal dyspnea
ORPHA:91387	ELN	2006	HP:0000278	Retrognathia
ORPHA:91387	ELN	2006	HP:0001677	Coronary artery atherosclerosis
ORPHA:91387	ELN	2006	HP:0012163	Carotid artery dilatation
ORPHA:91387	ELN	2006	HP:0001166	Arachnodactyly
ORPHA:91387	ELN	2006	HP:0100749	Chest pain
ORPHA:91387	ELN	2006	HP:0004933	Ascending aortic dissection
ORPHA:91387	ELN	2006	HP:0000525	Abnormality iris morphology
ORPHA:91387	ELN	2006	HP:0011106	Hypovolemia
ORPHA:91387	ELN	2006	HP:0100775	Dural ectasia
ORPHA:91387	ELN	2006	HP:0001643	Patent ductus arteriosus
ORPHA:91387	ELN	2006	HP:0002650	Scoliosis
ORPHA:91387	ELN	2006	HP:0004944	Dilatation of the cerebral artery
ORPHA:91387	ELN	2006	HP:0000316	Hypertelorism
ORPHA:91387	ELN	2006	HP:0001659	Aortic regurgitation
ORPHA:91387	ELN	2006	HP:0000098	Tall stature
ORPHA:91387	ELN	2006	HP:0000766	Abnormality of the sternum
ORPHA:91387	ELN	2006	HP:0005162	Left ventricular failure
ORPHA:91387	ELN	2006	HP:0012499	Descending aortic dissection
ORPHA:91387	ELN	2006	HP:0200146	Cystic medial necrosis of the aorta
ORPHA:91387	ELN	2006	HP:0001763	Pes planus
ORPHA:91387	ELN	2006	HP:0001640	Cardiomegaly
ORPHA:91387	ELN	2006	HP:0000023	Inguinal hernia
ORPHA:91387	ELN	2006	HP:0005112	Abdominal aortic aneurysm
ORPHA:91387	ELN	2006	HP:0002107	Pneumothorax
OMIM:248360	MLYCD	23417	HP:0004322	Short stature
OMIM:248360	MLYCD	23417	HP:0001263	Global developmental delay
OMIM:248360	MLYCD	23417	HP:0001639	Hypertrophic cardiomyopathy
OMIM:248360	MLYCD	23417	HP:0000007	Autosomal recessive inheritance
OMIM:248360	MLYCD	23417	HP:0001250	Seizures
OMIM:248360	MLYCD	23417	HP:0012450	Chronic constipation
OMIM:248360	MLYCD	23417	HP:0001946	Ketosis
OMIM:248360	MLYCD	23417	HP:0002013	Vomiting
OMIM:248360	MLYCD	23417	HP:0001942	Metabolic acidosis
OMIM:248360	MLYCD	23417	HP:0002027	Abdominal pain
OMIM:248360	MLYCD	23417	HP:0001943	Hypoglycemia
OMIM:248360	MLYCD	23417	HP:0002014	Diarrhea
OMIM:248360	MLYCD	23417	HP:0003128	Lactic acidosis
OMIM:248360	MLYCD	23417	HP:0001290	Generalized hypotonia
OMIM:248360	MLYCD	23417	HP:0001302	Pachygyria
OMIM:608232	BCR	613	HP:0001428	Somatic mutation
OMIM:608232	BCR	613	HP:0004848	Ph-positive acute lymphoblastic leukemia
OMIM:608232	BCR	613	HP:0005506	Chronic myelogenous leukemia
OMIM:268305	EIF4A3	9775	HP:0008744	Abnormality of the aryepiglottic fold
OMIM:268305	EIF4A3	9775	HP:0005736	Short tibia
OMIM:268305	EIF4A3	9775	HP:0011968	Feeding difficulties
OMIM:268305	EIF4A3	9775	HP:0000160	Narrow mouth
OMIM:268305	EIF4A3	9775	HP:0000308	Microretrognathia
OMIM:268305	EIF4A3	9775	HP:0000369	Low-set ears
OMIM:268305	EIF4A3	9775	HP:0009094	Cleft lower alveolar ridge
OMIM:268305	EIF4A3	9775	HP:0009623	Proximal placement of thumb
OMIM:268305	EIF4A3	9775	HP:0009778	Short thumb
OMIM:268305	EIF4A3	9775	HP:0001608	Abnormality of the voice
OMIM:268305	EIF4A3	9775	HP:0009486	Radial deviation of the hand
OMIM:268305	EIF4A3	9775	HP:0004322	Short stature
OMIM:268305	EIF4A3	9775	HP:0010752	Cleft mandible
OMIM:268305	EIF4A3	9775	HP:0010049	Short metacarpal
OMIM:268305	EIF4A3	9775	HP:0009803	Short phalanx of finger
OMIM:268305	EIF4A3	9775	HP:0001762	Talipes equinovarus
OMIM:268305	EIF4A3	9775	HP:0008807	Acetabular dysplasia
OMIM:268305	EIF4A3	9775	HP:0000007	Autosomal recessive inheritance
OMIM:268305	EIF4A3	9775	HP:0008753	Aplasia of the epiglottis
OMIM:268305	EIF4A3	9775	HP:0004209	Clinodactyly of the 5th finger
OMIM:268305	EIF4A3	9775	HP:0001263	Global developmental delay
OMIM:268305	EIF4A3	9775	HP:0030043	Hip subluxation
OMIM:268305	EIF4A3	9775	HP:0100499	Tibial deviation of toes
OMIM:268305	EIF4A3	9775	HP:0000201	Pierre-Robin sequence
OMIM:268305	EIF4A3	9775	HP:0006355	Agenesis of mandibular central incisor
OMIM:268305	EIF4A3	9775	HP:0002984	Hypoplasia of the radius
OMIM:268305	EIF4A3	9775	HP:0000193	Bifid uvula
OMIM:268305	EIF4A3	9775	HP:0000218	High palate
OMIM:268305	EIF4A3	9775	HP:0000411	Protruding ear
OMIM:268305	EIF4A3	9775	HP:0002827	Hip dislocation
OMIM:268305	EIF4A3	9775	HP:0000448	Prominent nose
OMIM:268305	EIF4A3	9775	HP:0003038	Fibular hypoplasia
OMIM:300622	C1GALT1C1	29071	HP:0002960	Autoimmunity
OMIM:300622	C1GALT1C1	29071	HP:0001877	Abnormal erythrocyte morphology
OMIM:603965	TRPC6	7225	HP:0000100	Nephrotic syndrome
OMIM:603965	TRPC6	7225	HP:0000093	Proteinuria
OMIM:603965	TRPC6	7225	HP:0012622	Chronic kidney disease
OMIM:603965	TRPC6	7225	HP:0000097	Focal segmental glomerulosclerosis
ORPHA:93299	TRIP11	9321	HP:0006703	Aplasia/Hypoplasia of the lungs
ORPHA:93299	TRIP11	9321	HP:0003196	Short nose
ORPHA:93299	TRIP11	9321	HP:0000774	Narrow chest
ORPHA:93299	TRIP11	9321	HP:0100541	Femoral hernia
ORPHA:93299	TRIP11	9321	HP:0002007	Frontal bossing
ORPHA:93299	TRIP11	9321	HP:0000463	Anteverted nares
ORPHA:93299	TRIP11	9321	HP:0001789	Hydrops fetalis
ORPHA:93299	TRIP11	9321	HP:0002757	Recurrent fractures
ORPHA:93299	TRIP11	9321	HP:0012368	Flat face
ORPHA:93299	TRIP11	9321	HP:0001561	Polyhydramnios
ORPHA:93299	TRIP11	9321	HP:0005716	Lethal skeletal dysplasia
ORPHA:93299	TRIP11	9321	HP:0000470	Short neck
ORPHA:93299	TRIP11	9321	HP:0000347	Micrognathia
ORPHA:93299	TRIP11	9321	HP:0002983	Micromelia
ORPHA:93299	TRIP11	9321	HP:0010306	Short thorax
ORPHA:93299	TRIP11	9321	HP:0000476	Cystic hygroma
ORPHA:93299	TRIP11	9321	HP:0000343	Long philtrum
ORPHA:93299	TRIP11	9321	HP:0003336	Abnormal enchondral ossification
ORPHA:93299	TRIP11	9321	HP:0006640	Multiple rib fractures
ORPHA:93299	TRIP11	9321	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:93299	TRIP11	9321	HP:0000474	Thickened nuchal skin fold
ORPHA:93299	TRIP11	9321	HP:0001537	Umbilical hernia
ORPHA:93299	TRIP11	9321	HP:0004279	Short palm
ORPHA:93299	TRIP11	9321	HP:0003270	Abdominal distention
ORPHA:93299	TRIP11	9321	HP:0001773	Short foot
ORPHA:93299	TRIP11	9321	HP:0003510	Severe short stature
ORPHA:93299	TRIP11	9321	HP:0000256	Macrocephaly
OMIM:615346	MKRN3	7681	HP:0000006	Autosomal dominant inheritance
OMIM:615346	MKRN3	7681	HP:0005616	Accelerated skeletal maturation
OMIM:615346	MKRN3	7681	HP:0010314	Premature thelarche
ORPHA:52417	MALT1	10892	HP:0000614	Abnormal morphology of the nasolacrimal system
ORPHA:52417	MALT1	10892	HP:0012191	B-cell lymphoma
ORPHA:52417	MALT1	10892	HP:0002017	Nausea and vomiting
ORPHA:52417	MALT1	10892	HP:0012123	Posterior uveitis
ORPHA:52417	MALT1	10892	HP:0100721	Mediastinal lymphadenopathy
ORPHA:52417	MALT1	10892	HP:0002205	Recurrent respiratory infections
ORPHA:52417	MALT1	10892	HP:0002113	Pulmonary infiltrates
ORPHA:52417	MALT1	10892	HP:0002027	Abdominal pain
ORPHA:52417	MALT1	10892	HP:0001824	Weight loss
ORPHA:52417	MALT1	10892	HP:0001903	Anemia
ORPHA:52417	MALT1	10892	HP:0000975	Hyperhidrosis
ORPHA:52417	MALT1	10892	HP:0012378	Fatigue
ORPHA:52417	MALT1	10892	HP:0001945	Fever
ORPHA:52417	MALT1	10892	HP:0000820	Abnormality of the thyroid gland
ORPHA:52417	MALT1	10892	HP:0002019	Constipation
ORPHA:52417	MALT1	10892	HP:0000505	Visual impairment
OMIM:610102	C7	730	HP:0005381	Recurrent meningococcal disease
OMIM:610102	C7	730	HP:0004431	Complement deficiency
OMIM:610102	C7	730	HP:0000007	Autosomal recessive inheritance
OMIM:614741	MPC1	51660	HP:0000219	Thin upper lip vermilion
OMIM:614741	MPC1	51660	HP:0003577	Congenital onset
OMIM:614741	MPC1	51660	HP:0002151	Increased serum lactate
OMIM:614741	MPC1	51660	HP:0003128	Lactic acidosis
OMIM:614741	MPC1	51660	HP:0003828	Variable expressivity
OMIM:614741	MPC1	51660	HP:0003542	Increased serum pyruvate
OMIM:614741	MPC1	51660	HP:0001992	Organic aciduria
OMIM:614741	MPC1	51660	HP:0001290	Generalized hypotonia
OMIM:614741	MPC1	51660	HP:0002098	Respiratory distress
OMIM:614741	MPC1	51660	HP:0000286	Epicanthus
OMIM:614741	MPC1	51660	HP:0001250	Seizures
OMIM:614741	MPC1	51660	HP:0001298	Encephalopathy
OMIM:614741	MPC1	51660	HP:0000007	Autosomal recessive inheritance
OMIM:614741	MPC1	51660	HP:0000253	Progressive microcephaly
OMIM:614741	MPC1	51660	HP:0002240	Hepatomegaly
OMIM:614741	MPC1	51660	HP:0001263	Global developmental delay
OMIM:614741	MPC1	51660	HP:0001583	Rotary nystagmus
OMIM:614741	MPC1	51660	HP:0009830	Peripheral neuropathy
OMIM:614741	MPC1	51660	HP:0000343	Long philtrum
OMIM:614741	MPC1	51660	HP:0001943	Hypoglycemia
OMIM:209300	TF	7018	HP:0001635	Congestive heart failure
OMIM:209300	TF	7018	HP:0012239	Atransferrinemia
OMIM:209300	TF	7018	HP:0001392	Abnormality of the liver
OMIM:209300	TF	7018	HP:0000007	Autosomal recessive inheritance
OMIM:209300	TF	7018	HP:0001931	Hypochromic anemia
ORPHA:648	KAT6B	23522	HP:0000218	High palate
ORPHA:648	KAT6B	23522	HP:0011362	Abnormal hair quantity
ORPHA:648	KAT6B	23522	HP:0004415	Pulmonary artery stenosis
ORPHA:648	KAT6B	23522	HP:0001252	Muscular hypotonia
ORPHA:648	KAT6B	23522	HP:0011381	Aplasia of the semicircular canal
ORPHA:648	KAT6B	23522	HP:0000639	Nystagmus
ORPHA:648	KAT6B	23522	HP:0008872	Feeding difficulties in infancy
ORPHA:648	KAT6B	23522	HP:0000407	Sensorineural hearing impairment
ORPHA:648	KAT6B	23522	HP:0000347	Micrognathia
ORPHA:648	KAT6B	23522	HP:0001004	Lymphedema
ORPHA:648	KAT6B	23522	HP:0000325	Triangular face
ORPHA:648	KAT6B	23522	HP:0006610	Wide intermamillary distance
ORPHA:648	KAT6B	23522	HP:0001928	Abnormality of coagulation
ORPHA:648	KAT6B	23522	HP:0004322	Short stature
ORPHA:648	KAT6B	23522	HP:0004209	Clinodactyly of the 5th finger
ORPHA:648	KAT6B	23522	HP:0000486	Strabismus
ORPHA:648	KAT6B	23522	HP:0000476	Cystic hygroma
ORPHA:648	KAT6B	23522	HP:0000465	Webbed neck
ORPHA:648	KAT6B	23522	HP:0000391	Thickened helices
ORPHA:648	KAT6B	23522	HP:0001743	Abnormality of the spleen
ORPHA:648	KAT6B	23522	HP:0000768	Pectus carinatum
ORPHA:648	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
ORPHA:648	KAT6B	23522	HP:0007477	Abnormal dermatoglyphics
ORPHA:648	KAT6B	23522	HP:0000767	Pectus excavatum
ORPHA:648	KAT6B	23522	HP:0005692	Joint hyperflexibility
ORPHA:648	KAT6B	23522	HP:0000179	Thick lower lip vermilion
ORPHA:648	KAT6B	23522	HP:0000508	Ptosis
ORPHA:648	KAT6B	23522	HP:0011869	Abnormal platelet function
ORPHA:648	KAT6B	23522	HP:0001156	Brachydactyly
ORPHA:648	KAT6B	23522	HP:0001324	Muscle weakness
ORPHA:648	KAT6B	23522	HP:0001260	Dysarthria
ORPHA:648	KAT6B	23522	HP:0100625	Enlarged thorax
ORPHA:648	KAT6B	23522	HP:0001892	Abnormal bleeding
ORPHA:648	KAT6B	23522	HP:0000348	High forehead
ORPHA:648	KAT6B	23522	HP:0000995	Melanocytic nevus
ORPHA:648	KAT6B	23522	HP:0000474	Thickened nuchal skin fold
ORPHA:648	KAT6B	23522	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:648	KAT6B	23522	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:648	KAT6B	23522	HP:0000520	Proptosis
ORPHA:648	KAT6B	23522	HP:0002162	Low posterior hairline
ORPHA:648	KAT6B	23522	HP:0002750	Delayed skeletal maturation
ORPHA:648	KAT6B	23522	HP:0000316	Hypertelorism
ORPHA:648	KAT6B	23522	HP:0002208	Coarse hair
ORPHA:648	KAT6B	23522	HP:0002240	Hepatomegaly
ORPHA:648	KAT6B	23522	HP:0002974	Radioulnar synostosis
ORPHA:648	KAT6B	23522	HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
ORPHA:648	KAT6B	23522	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:648	KAT6B	23522	HP:0011675	Arrhythmia
ORPHA:648	KAT6B	23522	HP:0000028	Cryptorchidism
ORPHA:648	KAT6B	23522	HP:0002650	Scoliosis
ORPHA:648	KAT6B	23522	HP:0011800	Midface retrusion
OMIM:115197	MYBPC3	4607	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115197	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:168550	MSX2	4488	HP:0004492	Widely patent fontanelles and sutures
OMIM:168550	MSX2	4488	HP:0000894	Short clavicles
OMIM:168550	MSX2	4488	HP:0002697	Parietal foramina
OMIM:168550	MSX2	4488	HP:0025247	Dermoid cyst
OMIM:168550	MSX2	4488	HP:0000256	Macrocephaly
OMIM:168550	MSX2	4488	HP:0008551	Microtia
OMIM:168550	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:168550	MSX2	4488	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:115700	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:115700	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:215700	ASS1	445	HP:0002240	Hepatomegaly
OMIM:215700	ASS1	445	HP:0002038	Protein avoidance
OMIM:215700	ASS1	445	HP:0005961	Hypoargininemia
OMIM:215700	ASS1	445	HP:0001508	Failure to thrive
OMIM:215700	ASS1	445	HP:0001950	Respiratory alkalosis
OMIM:215700	ASS1	445	HP:0001987	Hyperammonemia
OMIM:215700	ASS1	445	HP:0001254	Lethargy
OMIM:215700	ASS1	445	HP:0001263	Global developmental delay
OMIM:215700	ASS1	445	HP:0001951	Episodic ammonia intoxication
OMIM:215700	ASS1	445	HP:0003623	Neonatal onset
OMIM:215700	ASS1	445	HP:0003812	Phenotypic variability
OMIM:215700	ASS1	445	HP:0002013	Vomiting
OMIM:215700	ASS1	445	HP:0001250	Seizures
OMIM:215700	ASS1	445	HP:0003217	Hyperglutaminemia
OMIM:215700	ASS1	445	HP:0001249	Intellectual disability
OMIM:215700	ASS1	445	HP:0000737	Irritability
OMIM:215700	ASS1	445	HP:0003218	Oroticaciduria
OMIM:215700	ASS1	445	HP:0000007	Autosomal recessive inheritance
OMIM:215700	ASS1	445	HP:0001251	Ataxia
OMIM:215700	ASS1	445	HP:0001394	Cirrhosis
OMIM:215700	ASS1	445	HP:0002181	Cerebral edema
OMIM:215700	ASS1	445	HP:0001297	Stroke
OMIM:215700	ASS1	445	HP:0001259	Coma
OMIM:610984	CFI	3426	HP:0006946	Recurrent meningitis
OMIM:610984	CFI	3426	HP:0005369	Decreased serum complement factor H
OMIM:610984	CFI	3426	HP:0011108	Recurrent sinusitis
OMIM:610984	CFI	3426	HP:0002633	Vasculitis
OMIM:610984	CFI	3426	HP:0005356	Decreased serum complement factor I
OMIM:610984	CFI	3426	HP:0000010	Recurrent urinary tract infections
OMIM:610984	CFI	3426	HP:0000007	Autosomal recessive inheritance
OMIM:610984	CFI	3426	HP:0005366	Recurrent streptococcus pneumoniae infections
OMIM:610984	CFI	3426	HP:0005376	Recurrent Haemophilus influenzae infections
OMIM:610984	CFI	3426	HP:0000083	Renal insufficiency
OMIM:610984	CFI	3426	HP:0000099	Glomerulonephritis
OMIM:610984	CFI	3426	HP:0005421	Decreased serum complement C3
OMIM:610984	CFI	3426	HP:0001581	Recurrent skin infections
OMIM:610984	CFI	3426	HP:0000403	Recurrent otitis media
OMIM:610984	CFI	3426	HP:0003621	Juvenile onset
OMIM:610984	CFI	3426	HP:0001369	Arthritis
OMIM:610984	CFI	3426	HP:0005381	Recurrent meningococcal disease
OMIM:610984	CFI	3426	HP:0005416	Decreased serum complement factor B
OMIM:610984	CFI	3426	HP:0012330	Pyelonephritis
OMIM:258100	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:258100	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:258100	SAG	6295	HP:0012047	Hemeralopia
ORPHA:777	AGTR2	186	HP:0001249	Intellectual disability
ORPHA:618	POT1	25913	HP:0002861	Melanoma
ORPHA:618	POT1	25913	HP:0002894	Neoplasm of the pancreas
ORPHA:618	POT1	25913	HP:0001480	Freckling
ORPHA:618	POT1	25913	HP:0006753	Neoplasm of the stomach
ORPHA:618	POT1	25913	HP:0001595	Abnormality of the hair
ORPHA:618	POT1	25913	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:618	POT1	25913	HP:0100013	Neoplasm of the breast
ORPHA:618	POT1	25913	HP:0000958	Dry skin
ORPHA:618	POT1	25913	HP:0100763	Abnormality of the lymphatic system
ORPHA:618	POT1	25913	HP:0003764	Nevus
ORPHA:618	POT1	25913	HP:0000488	Retinopathy
ORPHA:48431	CTDP1	9150	HP:0001943	Hypoglycemia
ORPHA:48431	CTDP1	9150	HP:0000518	Cataract
ORPHA:48431	CTDP1	9150	HP:0000486	Strabismus
ORPHA:48431	CTDP1	9150	HP:0008942	Acute rhabdomyolysis
ORPHA:48431	CTDP1	9150	HP:0003134	Abnormality of peripheral nerve conduction
ORPHA:48431	CTDP1	9150	HP:0000939	Osteoporosis
ORPHA:48431	CTDP1	9150	HP:0002808	Kyphosis
ORPHA:48431	CTDP1	9150	HP:0002119	Ventriculomegaly
ORPHA:48431	CTDP1	9150	HP:0000527	Long eyelashes
ORPHA:48431	CTDP1	9150	HP:0003401	Paresthesia
ORPHA:48431	CTDP1	9150	HP:0010620	Malar prominence
ORPHA:48431	CTDP1	9150	HP:0100490	Camptodactyly of finger
ORPHA:48431	CTDP1	9150	HP:0007256	Abnormal pyramidal signs
ORPHA:48431	CTDP1	9150	HP:0000347	Micrognathia
ORPHA:48431	CTDP1	9150	HP:0002650	Scoliosis
ORPHA:48431	CTDP1	9150	HP:0002080	Intention tremor
ORPHA:48431	CTDP1	9150	HP:0001511	Intrauterine growth retardation
ORPHA:48431	CTDP1	9150	HP:0004322	Short stature
ORPHA:48431	CTDP1	9150	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:48431	CTDP1	9150	HP:0003319	Abnormality of the cervical spine
ORPHA:48431	CTDP1	9150	HP:0000568	Microphthalmia
ORPHA:48431	CTDP1	9150	HP:0001256	Intellectual disability, mild
ORPHA:48431	CTDP1	9150	HP:0001263	Global developmental delay
ORPHA:48431	CTDP1	9150	HP:0007002	Motor axonal neuropathy
ORPHA:48431	CTDP1	9150	HP:0001310	Dysmetria
ORPHA:48431	CTDP1	9150	HP:0002120	Cerebral cortical atrophy
ORPHA:48431	CTDP1	9150	HP:0000482	Microcornea
ORPHA:48431	CTDP1	9150	HP:0000639	Nystagmus
ORPHA:3047	KAT6B	23522	HP:0000614	Abnormal morphology of the nasolacrimal system
ORPHA:3047	KAT6B	23522	HP:0008191	Thyroid agenesis
ORPHA:3047	KAT6B	23522	HP:0001561	Polyhydramnios
ORPHA:3047	KAT6B	23522	HP:0002205	Recurrent respiratory infections
ORPHA:3047	KAT6B	23522	HP:0001629	Ventricular septal defect
ORPHA:3047	KAT6B	23522	HP:0000369	Low-set ears
ORPHA:3047	KAT6B	23522	HP:0001508	Failure to thrive
ORPHA:3047	KAT6B	23522	HP:0007598	Bilateral single transverse palmar creases
ORPHA:3047	KAT6B	23522	HP:0001643	Patent ductus arteriosus
ORPHA:3047	KAT6B	23522	HP:0000269	Prominent occiput
ORPHA:3047	KAT6B	23522	HP:0005692	Joint hyperflexibility
ORPHA:3047	KAT6B	23522	HP:0000340	Sloping forehead
ORPHA:3047	KAT6B	23522	HP:0000358	Posteriorly rotated ears
ORPHA:3047	KAT6B	23522	HP:0100648	Neoplasm of the tongue
ORPHA:3047	KAT6B	23522	HP:0000176	Submucous cleft hard palate
ORPHA:3047	KAT6B	23522	HP:0100490	Camptodactyly of finger
ORPHA:3047	KAT6B	23522	HP:0005990	Thyroid hypoplasia
ORPHA:3047	KAT6B	23522	HP:0003189	Long nose
ORPHA:3047	KAT6B	23522	HP:0006695	Atrioventricular canal defect
ORPHA:3047	KAT6B	23522	HP:0001328	Specific learning disability
ORPHA:3047	KAT6B	23522	HP:0001250	Seizures
ORPHA:3047	KAT6B	23522	HP:0004426	Abnormality of the cheek
ORPHA:3047	KAT6B	23522	HP:0001263	Global developmental delay
ORPHA:3047	KAT6B	23522	HP:0000448	Prominent nose
ORPHA:3047	KAT6B	23522	HP:0000278	Retrognathia
ORPHA:3047	KAT6B	23522	HP:0000193	Bifid uvula
ORPHA:3047	KAT6B	23522	HP:0001249	Intellectual disability
ORPHA:3047	KAT6B	23522	HP:0000581	Blepharophimosis
ORPHA:3047	KAT6B	23522	HP:0009738	Abnormality of the antihelix
ORPHA:3047	KAT6B	23522	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3047	KAT6B	23522	HP:0000028	Cryptorchidism
ORPHA:3047	KAT6B	23522	HP:0001631	Atrial septal defect
ORPHA:3047	KAT6B	23522	HP:0003510	Severe short stature
ORPHA:3047	KAT6B	23522	HP:0011968	Feeding difficulties
ORPHA:3047	KAT6B	23522	HP:0000347	Micrognathia
ORPHA:3047	KAT6B	23522	HP:0100028	Ectopic thyroid
ORPHA:3047	KAT6B	23522	HP:0000252	Microcephaly
ORPHA:3047	KAT6B	23522	HP:0001252	Muscular hypotonia
ORPHA:3047	KAT6B	23522	HP:0012745	Short palpebral fissure
ORPHA:3047	KAT6B	23522	HP:0000414	Bulbous nose
ORPHA:3047	KAT6B	23522	HP:0000821	Hypothyroidism
ORPHA:1727	TBX1	6899	HP:0001636	Tetralogy of Fallot
ORPHA:1727	TBX1	6899	HP:0000126	Hydronephrosis
ORPHA:1727	TBX1	6899	HP:0000316	Hypertelorism
ORPHA:1727	TBX1	6899	HP:0011611	Interrupted aortic arch
ORPHA:1727	TBX1	6899	HP:0000275	Narrow face
ORPHA:1727	TBX1	6899	HP:0000494	Downslanted palpebral fissures
ORPHA:1727	TBX1	6899	HP:0000286	Epicanthus
ORPHA:1727	TBX1	6899	HP:0000739	Anxiety
ORPHA:1727	TBX1	6899	HP:0000319	Smooth philtrum
ORPHA:1727	TBX1	6899	HP:0000717	Autism
ORPHA:1727	TBX1	6899	HP:0002650	Scoliosis
ORPHA:1727	TBX1	6899	HP:0009908	Anterior creases of earlobe
ORPHA:1727	TBX1	6899	HP:0001611	Nasal speech
ORPHA:1727	TBX1	6899	HP:0000600	Abnormality of the pharynx
ORPHA:1727	TBX1	6899	HP:0000365	Hearing impairment
ORPHA:1727	TBX1	6899	HP:0004383	Hypoplastic left heart
ORPHA:1727	TBX1	6899	HP:0000445	Wide nose
ORPHA:1727	TBX1	6899	HP:0001252	Muscular hypotonia
ORPHA:1727	TBX1	6899	HP:0000733	Stereotypy
ORPHA:1727	TBX1	6899	HP:0008661	Urethral stenosis
ORPHA:1727	TBX1	6899	HP:0010978	Abnormality of immune system physiology
ORPHA:1727	TBX1	6899	HP:0000750	Delayed speech and language development
ORPHA:1727	TBX1	6899	HP:0000348	High forehead
ORPHA:1727	TBX1	6899	HP:0000722	Obsessive-compulsive behavior
ORPHA:1727	TBX1	6899	HP:0000175	Cleft palate
ORPHA:1727	TBX1	6899	HP:0002167	Neurological speech impairment
ORPHA:1727	TBX1	6899	HP:0011800	Midface retrusion
ORPHA:1727	TBX1	6899	HP:0001249	Intellectual disability
ORPHA:1727	TBX1	6899	HP:0100627	Displacement of the external urethral meatus
ORPHA:1727	TBX1	6899	HP:0001263	Global developmental delay
ORPHA:1727	TBX1	6899	HP:0000508	Ptosis
ORPHA:1727	TBX1	6899	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHA:1727	TBX1	6899	HP:0001669	Transposition of the great arteries
ORPHA:1727	TBX1	6899	HP:0001510	Growth delay
ORPHA:1727	TBX1	6899	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:1727	TBX1	6899	HP:0000252	Microcephaly
ORPHA:1727	TBX1	6899	HP:0001250	Seizures
ORPHA:1727	TBX1	6899	HP:0000457	Depressed nasal ridge
ORPHA:1727	TBX1	6899	HP:0000347	Micrognathia
ORPHA:1727	TBX1	6899	HP:0001629	Ventricular septal defect
ORPHA:242	SRY	6736	HP:0000147	Polycystic ovaries
ORPHA:242	SRY	6736	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:242	SRY	6736	HP:0008715	Testicular dysgenesis
ORPHA:242	SRY	6736	HP:0000037	Male pseudohermaphroditism
OMIM:105120	GSN	2934	HP:0001283	Bulbar palsy
OMIM:105120	GSN	2934	HP:0001149	Lattice corneal dystrophy
OMIM:105120	GSN	2934	HP:0003216	Generalized amyloid deposition
OMIM:105120	GSN	2934	HP:0003581	Adult onset
OMIM:105120	GSN	2934	HP:0030843	Cardiac amyloidosis
OMIM:105120	GSN	2934	HP:0001438	Abnormality of abdomen morphology
OMIM:105120	GSN	2934	HP:0000100	Nephrotic syndrome
OMIM:105120	GSN	2934	HP:0001638	Cardiomyopathy
OMIM:105120	GSN	2934	HP:0000006	Autosomal dominant inheritance
OMIM:105120	GSN	2934	HP:0000973	Cutis laxa
OMIM:105120	GSN	2934	HP:0000083	Renal insufficiency
OMIM:105120	GSN	2934	HP:0001271	Polyneuropathy
OMIM:610283	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:610283	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:610283	SEMA4A	64218	HP:0000529	Progressive visual loss
OMIM:610283	SEMA4A	64218	HP:0009926	Epiphora
OMIM:610283	SEMA4A	64218	HP:0001000	Abnormality of skin pigmentation
OMIM:610283	SEMA4A	64218	HP:0000608	Macular degeneration
OMIM:610283	SEMA4A	64218	HP:0000613	Photophobia
OMIM:610283	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:610283	SEMA4A	64218	HP:0007994	Peripheral visual field loss
OMIM:610283	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:103580	GNAS	2778	HP:0000293	Full cheeks
OMIM:103580	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:103580	GNAS	2778	HP:0003472	Hypocalcemic tetany
OMIM:103580	GNAS	2778	HP:0000518	Cataract
OMIM:103580	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:103580	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:103580	GNAS	2778	HP:0001513	Obesity
OMIM:103580	GNAS	2778	HP:0000135	Hypogonadism
OMIM:103580	GNAS	2778	HP:0001249	Intellectual disability
OMIM:103580	GNAS	2778	HP:0000311	Round face
OMIM:103580	GNAS	2778	HP:0001250	Seizures
OMIM:103580	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:103580	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:103580	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:103580	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:103580	GNAS	2778	HP:0010743	Short metatarsal
OMIM:103580	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:103580	GNAS	2778	HP:0000470	Short neck
OMIM:103580	GNAS	2778	HP:0004322	Short stature
OMIM:103580	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:103580	GNAS	2778	HP:0006960	Choroid plexus calcification
OMIM:103580	GNAS	2778	HP:0010049	Short metacarpal
OMIM:103580	GNAS	2778	HP:0000821	Hypothyroidism
OMIM:103580	GNAS	2778	HP:0000639	Nystagmus
OMIM:103580	GNAS	2778	HP:0001831	Short toe
OMIM:103580	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:103580	GNAS	2778	HP:0000939	Osteoporosis
OMIM:103580	GNAS	2778	HP:0009381	Short finger
OMIM:103580	GNAS	2778	HP:0002135	Basal ganglia calcification
OMIM:103580	GNAS	2778	HP:0001156	Brachydactyly
OMIM:103580	GNAS	2778	HP:0002684	Thickened calvaria
OMIM:615349	B3GALT6	126792	HP:0000767	Pectus excavatum
OMIM:615349	B3GALT6	126792	HP:0000973	Cutis laxa
OMIM:615349	B3GALT6	126792	HP:0004233	Advanced ossification of carpal bones
OMIM:615349	B3GALT6	126792	HP:0011220	Prominent forehead
OMIM:615349	B3GALT6	126792	HP:0004325	Decreased body weight
OMIM:615349	B3GALT6	126792	HP:0000926	Platyspondyly
OMIM:615349	B3GALT6	126792	HP:0001263	Global developmental delay
OMIM:615349	B3GALT6	126792	HP:0000592	Blue sclerae
OMIM:615349	B3GALT6	126792	HP:0000520	Proptosis
OMIM:615349	B3GALT6	126792	HP:0009702	Carpal synostosis
OMIM:615349	B3GALT6	126792	HP:0001290	Generalized hypotonia
OMIM:615349	B3GALT6	126792	HP:0000175	Cleft palate
OMIM:615349	B3GALT6	126792	HP:0002751	Kyphoscoliosis
OMIM:615349	B3GALT6	126792	HP:0001762	Talipes equinovarus
OMIM:615349	B3GALT6	126792	HP:0002827	Hip dislocation
OMIM:615349	B3GALT6	126792	HP:0008070	Sparse hair
OMIM:615349	B3GALT6	126792	HP:0012368	Flat face
OMIM:615349	B3GALT6	126792	HP:0000007	Autosomal recessive inheritance
OMIM:615349	B3GALT6	126792	HP:0000974	Hyperextensible skin
OMIM:615349	B3GALT6	126792	HP:0003015	Flared metaphysis
OMIM:615349	B3GALT6	126792	HP:0011341	Long upper lip
OMIM:187500	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:187500	TBX1	6899	HP:0000337	Broad forehead
OMIM:187500	TBX1	6899	HP:0004467	Preauricular pit
OMIM:187500	TBX1	6899	HP:0000520	Proptosis
OMIM:187500	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:187500	TBX1	6899	HP:0004209	Clinodactyly of the 5th finger
OMIM:613265	EDN3	1908	HP:0002226	White eyebrow
OMIM:613265	EDN3	1908	HP:0001425	Heterogeneous
OMIM:613265	EDN3	1908	HP:0002227	White eyelashes
OMIM:613265	EDN3	1908	HP:0000007	Autosomal recessive inheritance
OMIM:613265	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:613265	EDN3	1908	HP:0000407	Sensorineural hearing impairment
OMIM:613265	EDN3	1908	HP:0000635	Blue irides
OMIM:613265	EDN3	1908	HP:0001053	Hypopigmented skin patches
OMIM:613265	EDN3	1908	HP:0002211	White forelock
OMIM:613265	EDN3	1908	HP:0002216	Premature graying of hair
OMIM:613265	EDN3	1908	HP:0001100	Heterochromia iridis
OMIM:613265	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:616538	DAG1	1605	HP:0001344	Absent speech
OMIM:616538	DAG1	1605	HP:0002421	Poor head control
OMIM:616538	DAG1	1605	HP:0002350	Cerebellar cyst
OMIM:616538	DAG1	1605	HP:0000557	Buphthalmos
OMIM:616538	DAG1	1605	HP:0000568	Microphthalmia
OMIM:616538	DAG1	1605	HP:0000256	Macrocephaly
OMIM:616538	DAG1	1605	HP:0001290	Generalized hypotonia
OMIM:616538	DAG1	1605	HP:0001263	Global developmental delay
OMIM:616538	DAG1	1605	HP:0003828	Variable expressivity
OMIM:616538	DAG1	1605	HP:0000556	Retinal dystrophy
OMIM:616538	DAG1	1605	HP:0002126	Polymicrogyria
OMIM:616538	DAG1	1605	HP:0002415	Leukodystrophy
OMIM:616538	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:616538	DAG1	1605	HP:0002878	Respiratory failure
OMIM:616538	DAG1	1605	HP:0002119	Ventriculomegaly
OMIM:616538	DAG1	1605	HP:0000545	Myopia
OMIM:616538	DAG1	1605	HP:0001320	Cerebellar vermis hypoplasia
OMIM:616538	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:616538	DAG1	1605	HP:0000518	Cataract
OMIM:616538	DAG1	1605	HP:0002514	Cerebral calcification
OMIM:616538	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:616538	DAG1	1605	HP:0000238	Hydrocephalus
OMIM:616538	DAG1	1605	HP:0003593	Infantile onset
OMIM:616538	DAG1	1605	HP:0002079	Hypoplasia of the corpus callosum
OMIM:276710	HPD	3242	HP:0001256	Intellectual disability, mild
OMIM:276710	HPD	3242	HP:0003231	Hypertyrosinemia
OMIM:276710	HPD	3242	HP:0001250	Seizures
OMIM:276710	HPD	3242	HP:0001392	Abnormality of the liver
OMIM:276710	HPD	3242	HP:0003607	4-Hydroxyphenylacetic aciduria
OMIM:276710	HPD	3242	HP:0000007	Autosomal recessive inheritance
OMIM:276710	HPD	3242	HP:0003161	4-Hydroxyphenylpyruvic aciduria
ORPHA:85167	PCYT1A	5130	HP:0003184	Decreased hip abduction
ORPHA:85167	PCYT1A	5130	HP:0000545	Myopia
ORPHA:85167	PCYT1A	5130	HP:0008905	Rhizomelia
ORPHA:85167	PCYT1A	5130	HP:0007730	Iris hypopigmentation
ORPHA:85167	PCYT1A	5130	HP:0000551	Abnormality of color vision
ORPHA:85167	PCYT1A	5130	HP:0002996	Limited elbow movement
ORPHA:85167	PCYT1A	5130	HP:0000483	Astigmatism
ORPHA:85167	PCYT1A	5130	HP:0000572	Visual loss
ORPHA:85167	PCYT1A	5130	HP:0000926	Platyspondyly
ORPHA:85167	PCYT1A	5130	HP:0007994	Peripheral visual field loss
ORPHA:85167	PCYT1A	5130	HP:0008499	High hypermetropia
ORPHA:85167	PCYT1A	5130	HP:0003307	Hyperlordosis
ORPHA:85167	PCYT1A	5130	HP:0002650	Scoliosis
ORPHA:85167	PCYT1A	5130	HP:0003021	Metaphyseal cupping
ORPHA:85167	PCYT1A	5130	HP:0003510	Severe short stature
ORPHA:85167	PCYT1A	5130	HP:0000548	Cone/cone-rod dystrophy
ORPHA:85167	PCYT1A	5130	HP:0001129	Large central visual field defect
ORPHA:85167	PCYT1A	5130	HP:0006487	Bowing of the long bones
ORPHA:85167	PCYT1A	5130	HP:0000662	Nyctalopia
ORPHA:85167	PCYT1A	5130	HP:0000639	Nystagmus
ORPHA:85167	PCYT1A	5130	HP:0002657	Spondylometaphyseal dysplasia
ORPHA:85167	PCYT1A	5130	HP:0000613	Photophobia
ORPHA:85167	PCYT1A	5130	HP:0000772	Abnormality of the ribs
ORPHA:85167	PCYT1A	5130	HP:0004279	Short palm
ORPHA:167	LYST	1130	HP:0000225	Gingival bleeding
ORPHA:167	LYST	1130	HP:0000613	Photophobia
ORPHA:167	LYST	1130	HP:0001875	Neutropenia
ORPHA:167	LYST	1130	HP:0100838	Recurrent cutaneous abscess formation
ORPHA:167	LYST	1130	HP:0000646	Amblyopia
ORPHA:167	LYST	1130	HP:0000969	Edema
ORPHA:167	LYST	1130	HP:0002716	Lymphadenopathy
ORPHA:167	LYST	1130	HP:0007513	Generalized hypopigmentation
ORPHA:167	LYST	1130	HP:0001945	Fever
ORPHA:167	LYST	1130	HP:0001903	Anemia
ORPHA:167	LYST	1130	HP:0000639	Nystagmus
ORPHA:167	LYST	1130	HP:0002665	Lymphoma
ORPHA:167	LYST	1130	HP:0001337	Tremor
ORPHA:167	LYST	1130	HP:0002063	Rigidity
ORPHA:167	LYST	1130	HP:0200042	Skin ulcer
ORPHA:167	LYST	1130	HP:0001263	Global developmental delay
ORPHA:167	LYST	1130	HP:0012145	Abnormality of multiple cell lineages in the bone marrow
ORPHA:167	LYST	1130	HP:0007730	Iris hypopigmentation
ORPHA:167	LYST	1130	HP:0002067	Bradykinesia
ORPHA:167	LYST	1130	HP:0000995	Melanocytic nevus
ORPHA:167	LYST	1130	HP:0003401	Paresthesia
ORPHA:167	LYST	1130	HP:0001250	Seizures
ORPHA:167	LYST	1130	HP:0007440	Generalized hyperpigmentation
ORPHA:167	LYST	1130	HP:0001744	Splenomegaly
ORPHA:167	LYST	1130	HP:0001873	Thrombocytopenia
ORPHA:167	LYST	1130	HP:0002239	Gastrointestinal hemorrhage
ORPHA:167	LYST	1130	HP:0002205	Recurrent respiratory infections
ORPHA:167	LYST	1130	HP:0002240	Hepatomegaly
ORPHA:167	LYST	1130	HP:0011364	White hair
ORPHA:167	LYST	1130	HP:0000421	Epistaxis
ORPHA:167	LYST	1130	HP:0001251	Ataxia
ORPHA:167	LYST	1130	HP:0000704	Periodontitis
ORPHA:167	LYST	1130	HP:0000978	Bruising susceptibility
ORPHA:167	LYST	1130	HP:0001631	Atrial septal defect
ORPHA:167	LYST	1130	HP:0001272	Cerebellar atrophy
ORPHA:167	LYST	1130	HP:0002376	Developmental regression
ORPHA:167	LYST	1130	HP:0001284	Areflexia
ORPHA:167	LYST	1130	HP:0002721	Immunodeficiency
OMIM:610253	EHMT1	79813	HP:0000664	Synophrys
OMIM:610253	EHMT1	79813	HP:0001252	Muscular hypotonia
OMIM:610253	EHMT1	79813	HP:0012210	Abnormal renal morphology
OMIM:610253	EHMT1	79813	HP:0000722	Obsessive-compulsive behavior
OMIM:610253	EHMT1	79813	HP:0001762	Talipes equinovarus
OMIM:610253	EHMT1	79813	HP:0000272	Malar flattening
OMIM:610253	EHMT1	79813	HP:0000316	Hypertelorism
OMIM:610253	EHMT1	79813	HP:0001710	Conotruncal defect
OMIM:610253	EHMT1	79813	HP:0011800	Midface retrusion
OMIM:610253	EHMT1	79813	HP:0002786	Tracheobronchomalacia
OMIM:610253	EHMT1	79813	HP:0002020	Gastroesophageal reflux
OMIM:610253	EHMT1	79813	HP:0000054	Micropenis
OMIM:610253	EHMT1	79813	HP:0003745	Sporadic
OMIM:610253	EHMT1	79813	HP:0010806	U-Shaped upper lip vermilion
OMIM:610253	EHMT1	79813	HP:0010808	Protruding tongue
OMIM:610253	EHMT1	79813	HP:0012368	Flat face
OMIM:610253	EHMT1	79813	HP:0000047	Hypospadias
OMIM:610253	EHMT1	79813	HP:0002205	Recurrent respiratory infections
OMIM:610253	EHMT1	79813	HP:0000750	Delayed speech and language development
OMIM:610253	EHMT1	79813	HP:0000303	Mandibular prognathia
OMIM:610253	EHMT1	79813	HP:0002360	Sleep disturbance
OMIM:610253	EHMT1	79813	HP:0001290	Generalized hypotonia
OMIM:610253	EHMT1	79813	HP:0006335	Persistence of primary teeth
OMIM:610253	EHMT1	79813	HP:0000006	Autosomal dominant inheritance
OMIM:610253	EHMT1	79813	HP:0000695	Natal tooth
OMIM:610253	EHMT1	79813	HP:0000718	Aggressive behavior
OMIM:610253	EHMT1	79813	HP:0000248	Brachycephaly
OMIM:610253	EHMT1	79813	HP:0000741	Apathy
OMIM:610253	EHMT1	79813	HP:0001513	Obesity
OMIM:610253	EHMT1	79813	HP:0000733	Stereotypy
OMIM:610253	EHMT1	79813	HP:0000280	Coarse facial features
OMIM:610253	EHMT1	79813	HP:0001249	Intellectual disability
OMIM:610253	EHMT1	79813	HP:0000582	Upslanted palpebral fissure
OMIM:610253	EHMT1	79813	HP:0000158	Macroglossia
OMIM:610253	EHMT1	79813	HP:0000232	Everted lower lip vermilion
OMIM:610253	EHMT1	79813	HP:0001156	Brachydactyly
OMIM:610253	EHMT1	79813	HP:0001250	Seizures
OMIM:610253	EHMT1	79813	HP:0000252	Microcephaly
OMIM:610253	EHMT1	79813	HP:0000365	Hearing impairment
OMIM:610253	EHMT1	79813	HP:0010864	Intellectual disability, severe
OMIM:610253	EHMT1	79813	HP:0000028	Cryptorchidism
OMIM:610253	EHMT1	79813	HP:0000717	Autism
OMIM:610253	EHMT1	79813	HP:0000954	Single transverse palmar crease
OMIM:610253	EHMT1	79813	HP:0000377	Abnormality of the pinna
OMIM:610253	EHMT1	79813	HP:0000463	Anteverted nares
OMIM:300643	SRPX2	27286	HP:0000006	Autosomal dominant inheritance
OMIM:300643	SRPX2	27286	HP:0011098	Speech apraxia
OMIM:300643	SRPX2	27286	HP:0001256	Intellectual disability, mild
OMIM:300643	SRPX2	27286	HP:0007095	Frontoparietal polymicrogyria
OMIM:300643	SRPX2	27286	HP:0007359	Focal seizures
OMIM:136630	DIP2B	57609	HP:0000006	Autosomal dominant inheritance
OMIM:136630	DIP2B	57609	HP:0001249	Intellectual disability
OMIM:136630	DIP2B	57609	HP:0000962	Hyperkeratosis
OMIM:136630	DIP2B	57609	HP:0001250	Seizures
OMIM:136630	DIP2B	57609	HP:0003812	Phenotypic variability
OMIM:612463	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:612463	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:612463	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:612463	GNAS	2778	HP:0000311	Round face
OMIM:612463	GNAS	2778	HP:0000293	Full cheeks
OMIM:612463	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:612463	GNAS	2778	HP:0000939	Osteoporosis
OMIM:612463	GNAS	2778	HP:0000470	Short neck
OMIM:612463	GNAS	2778	HP:0001156	Brachydactyly
OMIM:612463	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:612463	GNAS	2778	HP:0000518	Cataract
OMIM:612463	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:612463	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:612463	GNAS	2778	HP:0004322	Short stature
OMIM:612463	GNAS	2778	HP:0010049	Short metacarpal
OMIM:612463	GNAS	2778	HP:0000639	Nystagmus
OMIM:612463	GNAS	2778	HP:0001249	Intellectual disability
OMIM:612463	GNAS	2778	HP:0010743	Short metatarsal
OMIM:612463	GNAS	2778	HP:0001513	Obesity
ORPHA:79501	AAGAB	79719	HP:0005584	Renal cell carcinoma
ORPHA:79501	AAGAB	79719	HP:0002894	Neoplasm of the pancreas
ORPHA:79501	AAGAB	79719	HP:0001597	Abnormality of the nail
ORPHA:79501	AAGAB	79719	HP:0006740	Transitional cell carcinoma of the bladder
ORPHA:79501	AAGAB	79719	HP:0003003	Colon cancer
ORPHA:79501	AAGAB	79719	HP:0000982	Palmoplantar keratoderma
ORPHA:79501	AAGAB	79719	HP:0003002	Breast carcinoma
ORPHA:79501	AAGAB	79719	HP:0012189	Hodgkin lymphoma
ORPHA:1772	SRY	6736	HP:0010464	Streak ovary
ORPHA:1772	SRY	6736	HP:0012887	Ovarian serous cystadenoma
ORPHA:1772	SRY	6736	HP:0000837	Increased circulating gonadotropin level
ORPHA:1772	SRY	6736	HP:0000054	Micropenis
ORPHA:1772	SRY	6736	HP:0008689	Bilateral cryptorchidism
ORPHA:1772	SRY	6736	HP:0000771	Gynecomastia
ORPHA:1772	SRY	6736	HP:0000150	Gonadoblastoma
ORPHA:1772	SRY	6736	HP:0000041	Chordee
ORPHA:1772	SRY	6736	HP:0040171	Decreased serum testosterone level
ORPHA:1772	SRY	6736	HP:0000729	Autistic behavior
ORPHA:1772	SRY	6736	HP:0002442	Dyscalculia
ORPHA:1772	SRY	6736	HP:0000365	Hearing impairment
ORPHA:1772	SRY	6736	HP:0001822	Hallux valgus
ORPHA:1772	SRY	6736	HP:0008968	Muscle hypertrophy of the lower extremities
ORPHA:1772	SRY	6736	HP:0012741	Unilateral cryptorchidism
ORPHA:1772	SRY	6736	HP:0000821	Hypothyroidism
ORPHA:1772	SRY	6736	HP:0002162	Low posterior hairline
ORPHA:1772	SRY	6736	HP:0001657	Prolonged QT interval
ORPHA:1772	SRY	6736	HP:0002750	Delayed skeletal maturation
ORPHA:1772	SRY	6736	HP:0000085	Horseshoe kidney
ORPHA:1772	SRY	6736	HP:0000403	Recurrent otitis media
ORPHA:1772	SRY	6736	HP:0000347	Micrognathia
ORPHA:1772	SRY	6736	HP:0000061	Ambiguous genitalia, female
ORPHA:1772	SRY	6736	HP:0000639	Nystagmus
ORPHA:1772	SRY	6736	HP:0001087	Congenital glaucoma
ORPHA:1772	SRY	6736	HP:0000465	Webbed neck
ORPHA:1772	SRY	6736	HP:0002650	Scoliosis
ORPHA:1772	SRY	6736	HP:0000048	Bifid scrotum
ORPHA:1772	SRY	6736	HP:0001649	Tachycardia
ORPHA:1772	SRY	6736	HP:0006610	Wide intermamillary distance
ORPHA:1772	SRY	6736	HP:0001680	Coarctation of aorta
ORPHA:1772	SRY	6736	HP:0001513	Obesity
ORPHA:1772	SRY	6736	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1772	SRY	6736	HP:0001256	Intellectual disability, mild
ORPHA:1772	SRY	6736	HP:0002164	Nail dysplasia
ORPHA:1772	SRY	6736	HP:0003251	Male infertility
ORPHA:1772	SRY	6736	HP:0004322	Short stature
ORPHA:1772	SRY	6736	HP:0100779	Urogenital sinus anomaly
ORPHA:1772	SRY	6736	HP:0000218	High palate
ORPHA:1772	SRY	6736	HP:0012861	Ovotestis
ORPHA:1772	SRY	6736	HP:0002967	Cubitus valgus
ORPHA:1772	SRY	6736	HP:0030079	Cervix cancer
ORPHA:1772	SRY	6736	HP:0000808	Penoscrotal hypospadias
ORPHA:1772	SRY	6736	HP:0000505	Visual impairment
ORPHA:1772	SRY	6736	HP:0000823	Delayed puberty
ORPHA:1772	SRY	6736	HP:0010743	Short metatarsal
ORPHA:1772	SRY	6736	HP:0000027	Azoospermia
ORPHA:1772	SRY	6736	HP:0000286	Epicanthus
ORPHA:1772	SRY	6736	HP:0000767	Pectus excavatum
ORPHA:1772	SRY	6736	HP:0001647	Bicuspid aortic valve
ORPHA:1772	SRY	6736	HP:0000033	Ambiguous genitalia, male
ORPHA:1772	SRY	6736	HP:0000039	Epispadias
ORPHA:1772	SRY	6736	HP:0010044	Short 4th metacarpal
OMIM:616668	SPG11	80208	HP:0003477	Peripheral axonal neuropathy
OMIM:616668	SPG11	80208	HP:0002751	Kyphoscoliosis
OMIM:616668	SPG11	80208	HP:0100543	Cognitive impairment
OMIM:616668	SPG11	80208	HP:0001155	Abnormality of the hand
OMIM:616668	SPG11	80208	HP:0002936	Distal sensory impairment
OMIM:616668	SPG11	80208	HP:0003677	Slow progression
OMIM:616668	SPG11	80208	HP:0003812	Phenotypic variability
OMIM:616668	SPG11	80208	HP:0001761	Pes cavus
OMIM:616668	SPG11	80208	HP:0002079	Hypoplasia of the corpus callosum
OMIM:616668	SPG11	80208	HP:0009027	Foot dorsiflexor weakness
OMIM:616668	SPG11	80208	HP:0001337	Tremor
OMIM:616668	SPG11	80208	HP:0006466	Ankle contracture
OMIM:616668	SPG11	80208	HP:0000007	Autosomal recessive inheritance
ORPHA:388	EDN3	1908	HP:0001824	Weight loss
ORPHA:388	EDN3	1908	HP:0001249	Intellectual disability
ORPHA:388	EDN3	1908	HP:0002251	Aganglionic megacolon
ORPHA:388	EDN3	1908	HP:0100806	Sepsis
ORPHA:388	EDN3	1908	HP:0004322	Short stature
ORPHA:388	EDN3	1908	HP:0100031	Neoplasm of the thyroid gland
ORPHA:388	EDN3	1908	HP:0200008	Intestinal polyposis
ORPHA:388	EDN3	1908	HP:0002019	Constipation
ORPHA:388	EDN3	1908	HP:0001181	Adducted thumb
ORPHA:388	EDN3	1908	HP:0002014	Diarrhea
ORPHA:388	EDN3	1908	HP:0005214	Intestinal obstruction
ORPHA:388	EDN3	1908	HP:0000407	Sensorineural hearing impairment
ORPHA:388	EDN3	1908	HP:0002017	Nausea and vomiting
ORPHA:388	EDN3	1908	HP:0002027	Abdominal pain
ORPHA:388	EDN3	1908	HP:0001531	Failure to thrive in infancy
OMIM:269160	SIX3	6496	HP:0010636	Schizencephaly
ORPHA:93359	B3GALT6	126792	HP:0004322	Short stature
ORPHA:93359	B3GALT6	126792	HP:0001263	Global developmental delay
ORPHA:93359	B3GALT6	126792	HP:0000175	Cleft palate
ORPHA:93359	B3GALT6	126792	HP:0001249	Intellectual disability
ORPHA:93359	B3GALT6	126792	HP:0002251	Aganglionic megacolon
ORPHA:93359	B3GALT6	126792	HP:0003307	Hyperlordosis
ORPHA:93359	B3GALT6	126792	HP:0000218	High palate
ORPHA:93359	B3GALT6	126792	HP:0002827	Hip dislocation
ORPHA:93359	B3GALT6	126792	HP:0000926	Platyspondyly
ORPHA:93359	B3GALT6	126792	HP:0000974	Hyperextensible skin
ORPHA:93359	B3GALT6	126792	HP:0002650	Scoliosis
ORPHA:93359	B3GALT6	126792	HP:0000944	Abnormality of the metaphysis
ORPHA:93359	B3GALT6	126792	HP:0000592	Blue sclerae
ORPHA:93359	B3GALT6	126792	HP:0000343	Long philtrum
ORPHA:93359	B3GALT6	126792	HP:0011849	Abnormal bone ossification
ORPHA:93359	B3GALT6	126792	HP:0002651	Spondyloepimetaphyseal dysplasia
ORPHA:93359	B3GALT6	126792	HP:0000545	Myopia
ORPHA:93359	B3GALT6	126792	HP:0100777	Exostoses
ORPHA:93359	B3GALT6	126792	HP:0001671	Abnormal cardiac septum morphology
ORPHA:93359	B3GALT6	126792	HP:0100866	Short iliac bones
ORPHA:93359	B3GALT6	126792	HP:0001773	Short foot
ORPHA:93359	B3GALT6	126792	HP:0005930	Abnormality of epiphysis morphology
ORPHA:93359	B3GALT6	126792	HP:0001762	Talipes equinovarus
ORPHA:93359	B3GALT6	126792	HP:0002983	Micromelia
ORPHA:93359	B3GALT6	126792	HP:0000520	Proptosis
ORPHA:93359	B3GALT6	126792	HP:0001083	Ectopia lentis
ORPHA:93359	B3GALT6	126792	HP:0003042	Elbow dislocation
ORPHA:93359	B3GALT6	126792	HP:0004279	Short palm
ORPHA:93359	B3GALT6	126792	HP:0005692	Joint hyperflexibility
ORPHA:93359	B3GALT6	126792	HP:0002808	Kyphosis
OMIM:213600	SLC20A2	6575	HP:0003581	Adult onset
OMIM:213600	SLC20A2	6575	HP:0002067	Bradykinesia
OMIM:213600	SLC20A2	6575	HP:0001300	Parkinsonism
OMIM:213600	SLC20A2	6575	HP:0000020	Urinary incontinence
OMIM:213600	SLC20A2	6575	HP:0001260	Dysarthria
OMIM:213600	SLC20A2	6575	HP:0001288	Gait disturbance
OMIM:213600	SLC20A2	6575	HP:0007256	Abnormal pyramidal signs
OMIM:213600	SLC20A2	6575	HP:0001347	Hyperreflexia
OMIM:213600	SLC20A2	6575	HP:0002172	Postural instability
OMIM:213600	SLC20A2	6575	HP:0002461	Dense calcifications in the cerebellar dentate nucleus
OMIM:213600	SLC20A2	6575	HP:0002063	Rigidity
OMIM:213600	SLC20A2	6575	HP:0002305	Athetosis
OMIM:213600	SLC20A2	6575	HP:0002135	Basal ganglia calcification
OMIM:213600	SLC20A2	6575	HP:0002406	Limb dysmetria
OMIM:213600	SLC20A2	6575	HP:0000006	Autosomal dominant inheritance
OMIM:213600	SLC20A2	6575	HP:0002072	Chorea
OMIM:213600	SLC20A2	6575	HP:0000298	Mask-like facies
OMIM:213600	SLC20A2	6575	HP:0003676	Progressive
OMIM:213600	SLC20A2	6575	HP:0001268	Mental deterioration
OMIM:213600	SLC20A2	6575	HP:0002354	Memory impairment
OMIM:213600	SLC20A2	6575	HP:0002075	Dysdiadochokinesis
OMIM:213600	SLC20A2	6575	HP:0002504	Calcification of the small brain vessels
OMIM:213600	SLC20A2	6575	HP:0000709	Psychosis
OMIM:213600	SLC20A2	6575	HP:0001332	Dystonia
OMIM:213600	SLC20A2	6575	HP:0001337	Tremor
OMIM:213600	SLC20A2	6575	HP:0000716	Depressivity
OMIM:251850	MYO5B	4645	HP:0001510	Growth delay
OMIM:251850	MYO5B	4645	HP:0011473	Villous atrophy
OMIM:251850	MYO5B	4645	HP:0004385	Protracted diarrhea
OMIM:251850	MYO5B	4645	HP:0001522	Death in infancy
OMIM:251850	MYO5B	4645	HP:0004395	Malnutrition
OMIM:251850	MYO5B	4645	HP:0000007	Autosomal recessive inheritance
OMIM:251850	MYO5B	4645	HP:0001944	Dehydration
OMIM:609180	MPDU1	9526	HP:0040189	Scaling skin
OMIM:609180	MPDU1	9526	HP:0002059	Cerebral atrophy
OMIM:609180	MPDU1	9526	HP:0001019	Erythroderma
OMIM:609180	MPDU1	9526	HP:0000648	Optic atrophy
OMIM:609180	MPDU1	9526	HP:0000958	Dry skin
OMIM:609180	MPDU1	9526	HP:0000962	Hyperkeratosis
OMIM:609180	MPDU1	9526	HP:0001276	Hypertonia
OMIM:609180	MPDU1	9526	HP:0000007	Autosomal recessive inheritance
OMIM:609180	MPDU1	9526	HP:0003577	Congenital onset
OMIM:609180	MPDU1	9526	HP:0000252	Microcephaly
OMIM:609180	MPDU1	9526	HP:0001250	Seizures
OMIM:609180	MPDU1	9526	HP:0001263	Global developmental delay
OMIM:609180	MPDU1	9526	HP:0011968	Feeding difficulties
OMIM:609180	MPDU1	9526	HP:0001344	Absent speech
OMIM:609180	MPDU1	9526	HP:0000486	Strabismus
OMIM:609180	MPDU1	9526	HP:0001508	Failure to thrive
OMIM:609180	MPDU1	9526	HP:0000639	Nystagmus
OMIM:609180	MPDU1	9526	HP:0001251	Ataxia
OMIM:609180	MPDU1	9526	HP:0001290	Generalized hypotonia
OMIM:609180	MPDU1	9526	HP:0003256	Abnormality of the coagulation cascade
OMIM:609180	MPDU1	9526	HP:0001371	Flexion contracture
ORPHA:261330	BCR	613	HP:0002721	Immunodeficiency
ORPHA:261330	BCR	613	HP:0100033	Tics
ORPHA:261330	BCR	613	HP:0002553	Highly arched eyebrow
ORPHA:261330	BCR	613	HP:0000160	Narrow mouth
ORPHA:261330	BCR	613	HP:0001660	Truncus arteriosus
ORPHA:261330	BCR	613	HP:0003307	Hyperlordosis
ORPHA:261330	BCR	613	HP:0000272	Malar flattening
ORPHA:261330	BCR	613	HP:0002205	Recurrent respiratory infections
ORPHA:261330	BCR	613	HP:0001817	Absent fingernail
ORPHA:261330	BCR	613	HP:0000219	Thin upper lip vermilion
ORPHA:261330	BCR	613	HP:0006487	Bowing of the long bones
ORPHA:261330	BCR	613	HP:0001263	Global developmental delay
ORPHA:261330	BCR	613	HP:0000252	Microcephaly
ORPHA:261330	BCR	613	HP:0000490	Deeply set eye
ORPHA:261330	BCR	613	HP:0001659	Aortic regurgitation
ORPHA:261330	BCR	613	HP:0002463	Language impairment
ORPHA:261330	BCR	613	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:261330	BCR	613	HP:0000276	Long face
ORPHA:261330	BCR	613	HP:0000581	Blepharophimosis
ORPHA:261330	BCR	613	HP:0001166	Arachnodactyly
ORPHA:261330	BCR	613	HP:0009882	Short distal phalanx of finger
ORPHA:261330	BCR	613	HP:0010296	Ankyloglossia
ORPHA:261330	BCR	613	HP:0001250	Seizures
ORPHA:261330	BCR	613	HP:0002673	Coxa valga
ORPHA:261330	BCR	613	HP:0001622	Premature birth
ORPHA:261330	BCR	613	HP:0002664	Neoplasm
ORPHA:261330	BCR	613	HP:0004942	Aortic aneurysm
ORPHA:261330	BCR	613	HP:0002021	Pyloric stenosis
ORPHA:261330	BCR	613	HP:0100490	Camptodactyly of finger
ORPHA:261330	BCR	613	HP:0001629	Ventricular septal defect
ORPHA:261330	BCR	613	HP:0001249	Intellectual disability
ORPHA:261330	BCR	613	HP:0001631	Atrial septal defect
ORPHA:261330	BCR	613	HP:0004279	Short palm
ORPHA:261330	BCR	613	HP:0009465	Ulnar deviation of finger
ORPHA:261330	BCR	613	HP:0000453	Choanal atresia
ORPHA:261330	BCR	613	HP:0001852	Sandal gap
ORPHA:261330	BCR	613	HP:0001770	Toe syndactyly
ORPHA:261330	BCR	613	HP:0002705	High, narrow palate
ORPHA:261330	BCR	613	HP:0000175	Cleft palate
ORPHA:261330	BCR	613	HP:0000722	Obsessive-compulsive behavior
ORPHA:261330	BCR	613	HP:0009795	Branchial fistula
ORPHA:261330	BCR	613	HP:0000010	Recurrent urinary tract infections
ORPHA:261330	BCR	613	HP:0004209	Clinodactyly of the 5th finger
ORPHA:261330	BCR	613	HP:0000407	Sensorineural hearing impairment
ORPHA:261330	BCR	613	HP:0001511	Intrauterine growth retardation
ORPHA:261330	BCR	613	HP:0002607	Bowel incontinence
ORPHA:261330	BCR	613	HP:0001802	Absent toenail
ORPHA:261330	BCR	613	HP:0000426	Prominent nasal bridge
ORPHA:261330	BCR	613	HP:0001763	Pes planus
ORPHA:261330	BCR	613	HP:0000023	Inguinal hernia
ORPHA:261330	BCR	613	HP:0005692	Joint hyperflexibility
ORPHA:261330	BCR	613	HP:0004322	Short stature
ORPHA:261330	BCR	613	HP:0000716	Depressivity
ORPHA:261330	BCR	613	HP:0000430	Underdeveloped nasal alae
ORPHA:261330	BCR	613	HP:0000307	Pointed chin
ORPHA:261330	BCR	613	HP:0000363	Abnormality of earlobe
ORPHA:261330	BCR	613	HP:0000657	Oculomotor apraxia
ORPHA:261330	BCR	613	HP:0000324	Facial asymmetry
ORPHA:261330	BCR	613	HP:0000319	Smooth philtrum
ORPHA:521	BCR	613	HP:0004396	Poor appetite
ORPHA:521	BCR	613	HP:0005547	Myeloproliferative disorder
ORPHA:521	BCR	613	HP:0001873	Thrombocytopenia
ORPHA:521	BCR	613	HP:0001912	Abnormality of basophils
ORPHA:521	BCR	613	HP:0001945	Fever
ORPHA:521	BCR	613	HP:0001744	Splenomegaly
ORPHA:521	BCR	613	HP:0001894	Thrombocytosis
ORPHA:521	BCR	613	HP:0012378	Fatigue
ORPHA:521	BCR	613	HP:0001974	Leukocytosis
ORPHA:393	SRY	6736	HP:0000062	Ambiguous genitalia
ORPHA:393	SRY	6736	HP:0000147	Polycystic ovaries
ORPHA:393	SRY	6736	HP:0000026	Male hypogonadism
ORPHA:393	SRY	6736	HP:0008734	Decreased testicular size
ORPHA:44890	PDGFRA	5156	HP:0005214	Intestinal obstruction
ORPHA:44890	PDGFRA	5156	HP:0012378	Fatigue
ORPHA:44890	PDGFRA	5156	HP:0006753	Neoplasm of the stomach
ORPHA:44890	PDGFRA	5156	HP:0100833	Neoplasm of the small intestine
ORPHA:44890	PDGFRA	5156	HP:0002015	Dysphagia
ORPHA:44890	PDGFRA	5156	HP:0001392	Abnormality of the liver
ORPHA:44890	PDGFRA	5156	HP:0001903	Anemia
ORPHA:44890	PDGFRA	5156	HP:0100743	Neoplasm of the rectum
ORPHA:44890	PDGFRA	5156	HP:0100242	Sarcoma
ORPHA:44890	PDGFRA	5156	HP:0100273	Neoplasm of the colon
ORPHA:44890	PDGFRA	5156	HP:0100751	Esophageal neoplasm
ORPHA:44890	PDGFRA	5156	HP:0002239	Gastrointestinal hemorrhage
ORPHA:44890	PDGFRA	5156	HP:0000988	Skin rash
ORPHA:44890	PDGFRA	5156	HP:0007400	Irregular hyperpigmentation
ORPHA:44890	PDGFRA	5156	HP:0002017	Nausea and vomiting
ORPHA:44890	PDGFRA	5156	HP:0100723	Gastrointestinal stroma tumor
ORPHA:44890	PDGFRA	5156	HP:0002019	Constipation
OMIM:300960	EBP	10682	HP:0000238	Hydrocephalus
OMIM:300960	EBP	10682	HP:0003812	Phenotypic variability
OMIM:300960	EBP	10682	HP:0001845	Overlapping toe
OMIM:300960	EBP	10682	HP:0010442	Polydactyly
OMIM:300960	EBP	10682	HP:0100807	Long fingers
OMIM:300960	EBP	10682	HP:0000518	Cataract
OMIM:300960	EBP	10682	HP:0000028	Cryptorchidism
OMIM:300960	EBP	10682	HP:0001249	Intellectual disability
OMIM:300960	EBP	10682	HP:0008064	Ichthyosis
OMIM:300960	EBP	10682	HP:0001305	Dandy-Walker malformation
OMIM:300960	EBP	10682	HP:0004691	2-3 toe syndactyly
OMIM:300960	EBP	10682	HP:0001263	Global developmental delay
OMIM:300960	EBP	10682	HP:0000752	Hyperactivity
OMIM:300960	EBP	10682	HP:0000426	Prominent nasal bridge
OMIM:300960	EBP	10682	HP:0010557	Overlapping fingers
OMIM:300960	EBP	10682	HP:0011800	Midface retrusion
OMIM:300960	EBP	10682	HP:0000369	Low-set ears
OMIM:300960	EBP	10682	HP:0004322	Short stature
OMIM:300960	EBP	10682	HP:0000308	Microretrognathia
OMIM:300960	EBP	10682	HP:0001250	Seizures
OMIM:300960	EBP	10682	HP:0001419	X-linked recessive inheritance
OMIM:300960	EBP	10682	HP:0000218	High palate
OMIM:300960	EBP	10682	HP:0001290	Generalized hypotonia
OMIM:300960	EBP	10682	HP:0001650	Aortic valve stenosis
ORPHA:1052	BUB3	9184	HP:0000347	Micrognathia
ORPHA:1052	BUB3	9184	HP:0006721	Acute lymphoblastic leukemia
ORPHA:1052	BUB3	9184	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1052	BUB3	9184	HP:0001000	Abnormality of skin pigmentation
ORPHA:1052	BUB3	9184	HP:0001511	Intrauterine growth retardation
ORPHA:1052	BUB3	9184	HP:0002104	Apnea
ORPHA:1052	BUB3	9184	HP:0000252	Microcephaly
ORPHA:1052	BUB3	9184	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1052	BUB3	9184	HP:0007957	Corneal opacity
ORPHA:1052	BUB3	9184	HP:0000175	Cleft palate
ORPHA:1052	BUB3	9184	HP:0000365	Hearing impairment
ORPHA:1052	BUB3	9184	HP:0000821	Hypothyroidism
ORPHA:1052	BUB3	9184	HP:0000062	Ambiguous genitalia
ORPHA:1052	BUB3	9184	HP:0002247	Duodenal atresia
ORPHA:1052	BUB3	9184	HP:0001682	Subvalvular aortic stenosis
ORPHA:1052	BUB3	9184	HP:0000457	Depressed nasal ridge
ORPHA:1052	BUB3	9184	HP:0002859	Rhabdomyosarcoma
ORPHA:1052	BUB3	9184	HP:0001631	Atrial septal defect
ORPHA:1052	BUB3	9184	HP:0002667	Nephroblastoma
ORPHA:1052	BUB3	9184	HP:0002007	Frontal bossing
ORPHA:1052	BUB3	9184	HP:0001249	Intellectual disability
ORPHA:1052	BUB3	9184	HP:0010978	Abnormality of immune system physiology
ORPHA:1052	BUB3	9184	HP:0000494	Downslanted palpebral fissures
ORPHA:1052	BUB3	9184	HP:0002101	Abnormal lung lobation
ORPHA:1052	BUB3	9184	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:1052	BUB3	9184	HP:0003560	Muscular dystrophy
ORPHA:1052	BUB3	9184	HP:0001263	Global developmental delay
ORPHA:1052	BUB3	9184	HP:0000501	Glaucoma
ORPHA:1052	BUB3	9184	HP:0000518	Cataract
ORPHA:1052	BUB3	9184	HP:0007565	Multiple cafe-au-lait spots
ORPHA:1052	BUB3	9184	HP:0002797	Osteolysis
ORPHA:1052	BUB3	9184	HP:0000568	Microphthalmia
ORPHA:1052	BUB3	9184	HP:0001252	Muscular hypotonia
ORPHA:1052	BUB3	9184	HP:0000003	Multicystic kidney dysplasia
ORPHA:1052	BUB3	9184	HP:0001561	Polyhydramnios
ORPHA:1052	BUB3	9184	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:1052	BUB3	9184	HP:0000504	Abnormality of vision
ORPHA:1052	BUB3	9184	HP:0200008	Intestinal polyposis
ORPHA:1052	BUB3	9184	HP:0000286	Epicanthus
ORPHA:1052	BUB3	9184	HP:0002863	Myelodysplasia
ORPHA:1052	BUB3	9184	HP:0000445	Wide nose
ORPHA:1052	BUB3	9184	HP:0000340	Sloping forehead
ORPHA:1052	BUB3	9184	HP:0003003	Colon cancer
ORPHA:1052	BUB3	9184	HP:0000348	High forehead
ORPHA:1052	BUB3	9184	HP:0001680	Coarctation of aorta
ORPHA:1052	BUB3	9184	HP:0000325	Triangular face
ORPHA:1052	BUB3	9184	HP:0010880	Increased nuchal translucency
ORPHA:1052	BUB3	9184	HP:0012126	Stomach cancer
ORPHA:1052	BUB3	9184	HP:0001250	Seizures
ORPHA:1052	BUB3	9184	HP:0001541	Ascites
ORPHA:1052	BUB3	9184	HP:0001659	Aortic regurgitation
ORPHA:1052	BUB3	9184	HP:0004322	Short stature
ORPHA:1052	BUB3	9184	HP:0001305	Dandy-Walker malformation
ORPHA:1052	BUB3	9184	HP:0100650	Vaginal neoplasm
ORPHA:1052	BUB3	9184	HP:0001360	Holoprosencephaly
ORPHA:93946	PQBP1	10084	HP:0001249	Intellectual disability
ORPHA:93946	PQBP1	10084	HP:0000160	Narrow mouth
ORPHA:93946	PQBP1	10084	HP:0000431	Wide nasal bridge
ORPHA:93946	PQBP1	10084	HP:0001263	Global developmental delay
ORPHA:93946	PQBP1	10084	HP:0001631	Atrial septal defect
ORPHA:93946	PQBP1	10084	HP:0004322	Short stature
ORPHA:93946	PQBP1	10084	HP:0000347	Micrognathia
ORPHA:93946	PQBP1	10084	HP:0001522	Death in infancy
ORPHA:93946	PQBP1	10084	HP:0001166	Arachnodactyly
ORPHA:93946	PQBP1	10084	HP:0000252	Microcephaly
ORPHA:93946	PQBP1	10084	HP:0000414	Bulbous nose
ORPHA:93946	PQBP1	10084	HP:0000175	Cleft palate
ORPHA:93946	PQBP1	10084	HP:0000378	Cupped ear
ORPHA:93946	PQBP1	10084	HP:0000272	Malar flattening
OMIM:612952	SAMHD1	25939	HP:0001257	Spasticity
OMIM:612952	SAMHD1	25939	HP:0003828	Variable expressivity
OMIM:612952	SAMHD1	25939	HP:0009710	Chilblain lesions
OMIM:612952	SAMHD1	25939	HP:0001371	Flexion contracture
OMIM:612952	SAMHD1	25939	HP:0003040	Arthropathy
OMIM:612952	SAMHD1	25939	HP:0040189	Scaling skin
OMIM:612952	SAMHD1	25939	HP:0001263	Global developmental delay
OMIM:612952	SAMHD1	25939	HP:0007321	Deep white matter hypodensities
OMIM:612952	SAMHD1	25939	HP:0000958	Dry skin
OMIM:612952	SAMHD1	25939	HP:0002415	Leukodystrophy
OMIM:612952	SAMHD1	25939	HP:0008872	Feeding difficulties in infancy
OMIM:612952	SAMHD1	25939	HP:0200149	CSF lymphocytic pleiocytosis
OMIM:612952	SAMHD1	25939	HP:0000252	Microcephaly
OMIM:612952	SAMHD1	25939	HP:0000737	Irritability
OMIM:612952	SAMHD1	25939	HP:0002352	Leukoencephalopathy
OMIM:612952	SAMHD1	25939	HP:0000007	Autosomal recessive inheritance
OMIM:612952	SAMHD1	25939	HP:0008936	Muscular hypotonia of the trunk
OMIM:612952	SAMHD1	25939	HP:0002135	Basal ganglia calcification
OMIM:612952	SAMHD1	25939	HP:0001873	Thrombocytopenia
OMIM:608895	FBLN5	10516	HP:0011808	Decreased patellar reflex
OMIM:608895	FBLN5	10516	HP:0002460	Distal muscle weakness
OMIM:608895	FBLN5	10516	HP:0003477	Peripheral axonal neuropathy
OMIM:608895	FBLN5	10516	HP:0011510	Drusen
OMIM:608895	FBLN5	10516	HP:0007868	Age-related macular degeneration
OMIM:608895	FBLN5	10516	HP:0000974	Hyperextensible skin
OMIM:608895	FBLN5	10516	HP:0001382	Joint hypermobility
OMIM:608895	FBLN5	10516	HP:0000006	Autosomal dominant inheritance
OMIM:608895	FBLN5	10516	HP:0002936	Distal sensory impairment
OMIM:608895	FBLN5	10516	HP:0001761	Pes cavus
OMIM:608895	FBLN5	10516	HP:0003693	Distal amyotrophy
OMIM:608895	FBLN5	10516	HP:0000762	Decreased nerve conduction velocity
OMIM:608895	FBLN5	10516	HP:0011506	Choroidal neovascularization
OMIM:607259	SPG7	6687	HP:0000007	Autosomal recessive inheritance
OMIM:607259	SPG7	6687	HP:0001258	Spastic paraplegia
OMIM:607259	SPG7	6687	HP:0002354	Memory impairment
OMIM:607259	SPG7	6687	HP:0000648	Optic atrophy
OMIM:607259	SPG7	6687	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:607259	SPG7	6687	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:607259	SPG7	6687	HP:0001347	Hyperreflexia
OMIM:607259	SPG7	6687	HP:0002015	Dysphagia
OMIM:607259	SPG7	6687	HP:0002650	Scoliosis
OMIM:607259	SPG7	6687	HP:0000012	Urinary urgency
OMIM:607259	SPG7	6687	HP:0001272	Cerebellar atrophy
OMIM:607259	SPG7	6687	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:607259	SPG7	6687	HP:0000006	Autosomal dominant inheritance
OMIM:607259	SPG7	6687	HP:0002066	Gait ataxia
OMIM:607259	SPG7	6687	HP:0001260	Dysarthria
OMIM:607259	SPG7	6687	HP:0000020	Urinary incontinence
OMIM:607259	SPG7	6687	HP:0002064	Spastic gait
OMIM:607259	SPG7	6687	HP:0003487	Babinski sign
OMIM:607259	SPG7	6687	HP:0002120	Cerebral cortical atrophy
OMIM:607259	SPG7	6687	HP:0003581	Adult onset
OMIM:607259	SPG7	6687	HP:0002061	Lower limb spasticity
OMIM:607259	SPG7	6687	HP:0007340	Lower limb muscle weakness
OMIM:607259	SPG7	6687	HP:0000639	Nystagmus
OMIM:607259	SPG7	6687	HP:0001761	Pes cavus
OMIM:608908	SCO2	9997	HP:0000545	Myopia
OMIM:608908	SCO2	9997	HP:0000006	Autosomal dominant inheritance
ORPHA:91132	ST14	6768	HP:0001006	Hypotrichosis
ORPHA:91132	ST14	6768	HP:0008064	Ichthyosis
ORPHA:2028	ANTXR2	118429	HP:0001482	Subcutaneous nodule
ORPHA:2028	ANTXR2	118429	HP:0003202	Skeletal muscle atrophy
ORPHA:2028	ANTXR2	118429	HP:0001595	Abnormality of the hair
ORPHA:2028	ANTXR2	118429	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:2028	ANTXR2	118429	HP:0001387	Joint stiffness
ORPHA:2028	ANTXR2	118429	HP:0005876	Progressive flexion contractures
ORPHA:2028	ANTXR2	118429	HP:0000940	Abnormal diaphysis morphology
ORPHA:2028	ANTXR2	118429	HP:0002797	Osteolysis
ORPHA:2028	ANTXR2	118429	HP:0000929	Abnormality of the skull
ORPHA:2028	ANTXR2	118429	HP:0200034	Papule
ORPHA:2028	ANTXR2	118429	HP:0011024	Abnormality of the gastrointestinal tract
ORPHA:2028	ANTXR2	118429	HP:0000212	Gingival overgrowth
ORPHA:2028	ANTXR2	118429	HP:0001522	Death in infancy
ORPHA:2028	ANTXR2	118429	HP:0000169	Gingival fibromatosis
ORPHA:2028	ANTXR2	118429	HP:0200042	Skin ulcer
OMIM:144250	LPL	4023	HP:0001658	Myocardial infarction
OMIM:144250	LPL	4023	HP:0003362	Increased circulating very-low-density lipoprotein levels
OMIM:144250	LPL	4023	HP:0000006	Autosomal dominant inheritance
OMIM:144250	LPL	4023	HP:0003141	Increased circulating low-density lipoprotein levels
OMIM:144250	LPL	4023	HP:0001114	Xanthelasma
ORPHA:2290	MYO5B	4645	HP:0002014	Diarrhea
ORPHA:2290	MYO5B	4645	HP:0000989	Pruritus
ORPHA:2290	MYO5B	4645	HP:0001942	Metabolic acidosis
ORPHA:2290	MYO5B	4645	HP:0012211	Abnormal renal physiology
ORPHA:2290	MYO5B	4645	HP:0011473	Villous atrophy
ORPHA:2290	MYO5B	4645	HP:0011106	Hypovolemia
ORPHA:2290	MYO5B	4645	HP:0000121	Nephrocalcinosis
ORPHA:2290	MYO5B	4645	HP:0001944	Dehydration
ORPHA:2290	MYO5B	4645	HP:0003270	Abdominal distention
ORPHA:2290	MYO5B	4645	HP:0001263	Global developmental delay
OMIM:604563	SBF2	81846	HP:0002936	Distal sensory impairment
OMIM:604563	SBF2	81846	HP:0001761	Pes cavus
OMIM:604563	SBF2	81846	HP:0001178	Ulnar claw
OMIM:604563	SBF2	81846	HP:0003431	Decreased motor nerve conduction velocity
OMIM:604563	SBF2	81846	HP:0001265	Hyporeflexia
OMIM:604563	SBF2	81846	HP:0001425	Heterogeneous
OMIM:604563	SBF2	81846	HP:0001171	Split hand
OMIM:604563	SBF2	81846	HP:0000407	Sensorineural hearing impairment
OMIM:604563	SBF2	81846	HP:0003693	Distal amyotrophy
OMIM:604563	SBF2	81846	HP:0003383	Onion bulb formation
OMIM:604563	SBF2	81846	HP:0001284	Areflexia
OMIM:604563	SBF2	81846	HP:0002460	Distal muscle weakness
OMIM:604563	SBF2	81846	HP:0002751	Kyphoscoliosis
OMIM:604563	SBF2	81846	HP:0003376	Steppage gait
OMIM:604563	SBF2	81846	HP:0001765	Hammertoe
OMIM:604563	SBF2	81846	HP:0003621	Juvenile onset
OMIM:604563	SBF2	81846	HP:0000501	Glaucoma
OMIM:604563	SBF2	81846	HP:0003481	Segmental peripheral demyelination/remyelination
OMIM:604563	SBF2	81846	HP:0000007	Autosomal recessive inheritance
OMIM:604563	SBF2	81846	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604563	SBF2	81846	HP:0001762	Talipes equinovarus
OMIM:604563	SBF2	81846	HP:0009027	Foot dorsiflexor weakness
OMIM:604563	SBF2	81846	HP:0002355	Difficulty walking
OMIM:102200	GNAS	2778	HP:0000858	Menstrual irregularities
OMIM:102200	GNAS	2778	HP:0100829	Galactorrhea
OMIM:102200	GNAS	2778	HP:0002893	Pituitary adenoma
OMIM:102200	GNAS	2778	HP:0001638	Cardiomyopathy
OMIM:102200	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:102200	GNAS	2778	HP:0000870	Prolactin excess
OMIM:102200	GNAS	2778	HP:0030269	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
OMIM:102200	GNAS	2778	HP:0001712	Left ventricular hypertrophy
OMIM:102200	GNAS	2778	HP:0040278	Prolactinoma
OMIM:102200	GNAS	2778	HP:0000822	Hypertension
OMIM:102200	GNAS	2778	HP:0000845	Growth hormone excess
OMIM:102200	GNAS	2778	HP:0001428	Somatic mutation
OMIM:102200	GNAS	2778	HP:0000280	Coarse facial features
OMIM:102200	GNAS	2778	HP:0011760	Pituitary growth hormone cell adenoma
OMIM:102200	GNAS	2778	HP:0006767	Pituitary prolactin cell adenoma
ORPHA:899	DAG1	1605	HP:0000541	Retinal detachment
ORPHA:899	DAG1	1605	HP:0001265	Hyporeflexia
ORPHA:899	DAG1	1605	HP:0000518	Cataract
ORPHA:899	DAG1	1605	HP:0001328	Specific learning disability
ORPHA:899	DAG1	1605	HP:0007731	Chorioretinal dysplasia
ORPHA:899	DAG1	1605	HP:0012400	Abnormal aldolase level
ORPHA:899	DAG1	1605	HP:0000411	Protruding ear
ORPHA:899	DAG1	1605	HP:0008736	Hypoplasia of penis
ORPHA:899	DAG1	1605	HP:0001274	Agenesis of corpus callosum
ORPHA:899	DAG1	1605	HP:0000482	Microcornea
ORPHA:899	DAG1	1605	HP:0000568	Microphthalmia
ORPHA:899	DAG1	1605	HP:0001250	Seizures
ORPHA:899	DAG1	1605	HP:0007973	Retinal dysplasia
ORPHA:899	DAG1	1605	HP:0001249	Intellectual disability
ORPHA:899	DAG1	1605	HP:0010508	Metatarsus valgus
ORPHA:899	DAG1	1605	HP:0001302	Pachygyria
ORPHA:899	DAG1	1605	HP:0001321	Cerebellar hypoplasia
ORPHA:899	DAG1	1605	HP:0000612	Iris coloboma
ORPHA:899	DAG1	1605	HP:0001284	Areflexia
ORPHA:899	DAG1	1605	HP:0003560	Muscular dystrophy
ORPHA:899	DAG1	1605	HP:0000176	Submucous cleft hard palate
ORPHA:899	DAG1	1605	HP:0001324	Muscle weakness
ORPHA:899	DAG1	1605	HP:0040081	Abnormal levels of creatine kinase in blood
ORPHA:899	DAG1	1605	HP:0000028	Cryptorchidism
ORPHA:899	DAG1	1605	HP:0001252	Muscular hypotonia
ORPHA:899	DAG1	1605	HP:0000252	Microcephaly
ORPHA:899	DAG1	1605	HP:0000528	Anophthalmia
ORPHA:899	DAG1	1605	HP:0000648	Optic atrophy
ORPHA:899	DAG1	1605	HP:0007227	Macrogyria
ORPHA:899	DAG1	1605	HP:0001331	Absent septum pellucidum
ORPHA:899	DAG1	1605	HP:0000556	Retinal dystrophy
ORPHA:899	DAG1	1605	HP:0000369	Low-set ears
ORPHA:899	DAG1	1605	HP:0000193	Bifid uvula
ORPHA:899	DAG1	1605	HP:0001263	Global developmental delay
ORPHA:899	DAG1	1605	HP:0003202	Skeletal muscle atrophy
ORPHA:899	DAG1	1605	HP:0045040	Abnormal lactate dehydrogenase activity
ORPHA:899	DAG1	1605	HP:0002126	Polymicrogyria
ORPHA:899	DAG1	1605	HP:0000358	Posteriorly rotated ears
ORPHA:899	DAG1	1605	HP:0000501	Glaucoma
ORPHA:899	DAG1	1605	HP:0000256	Macrocephaly
ORPHA:899	DAG1	1605	HP:0000238	Hydrocephalus
ORPHA:899	DAG1	1605	HP:0001305	Dandy-Walker malformation
ORPHA:899	DAG1	1605	HP:0001339	Lissencephaly
ORPHA:899	DAG1	1605	HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
ORPHA:899	DAG1	1605	HP:0007957	Corneal opacity
OMIM:238600	LPL	4023	HP:0001013	Eruptive xanthomas
OMIM:238600	LPL	4023	HP:0002574	Episodic abdominal pain
OMIM:238600	LPL	4023	HP:0012238	Increased circulating chylomicron levels
OMIM:238600	LPL	4023	HP:0000660	Lipemia retinalis
OMIM:238600	LPL	4023	HP:0000007	Autosomal recessive inheritance
OMIM:238600	LPL	4023	HP:0001744	Splenomegaly
OMIM:238600	LPL	4023	HP:0001733	Pancreatitis
OMIM:238600	LPL	4023	HP:0001433	Hepatosplenomegaly
OMIM:238600	LPL	4023	HP:0002013	Vomiting
OMIM:238600	LPL	4023	HP:0002018	Nausea
OMIM:238600	LPL	4023	HP:0031028	Lactescent serum
OMIM:238600	LPL	4023	HP:0003124	Hypercholesterolemia
OMIM:238600	LPL	4023	HP:0000952	Jaundice
ORPHA:6	MCCC1	56922	HP:0001531	Failure to thrive in infancy
ORPHA:6	MCCC1	56922	HP:0004357	Abnormality of leucine metabolism
ORPHA:6	MCCC1	56922	HP:0100022	Abnormality of movement
ORPHA:6	MCCC1	56922	HP:0001943	Hypoglycemia
ORPHA:6	MCCC1	56922	HP:0002093	Respiratory insufficiency
ORPHA:6	MCCC1	56922	HP:0001257	Spasticity
ORPHA:6	MCCC1	56922	HP:0001992	Organic aciduria
ORPHA:6	MCCC1	56922	HP:0001252	Muscular hypotonia
ORPHA:6	MCCC1	56922	HP:0001987	Hyperammonemia
ORPHA:6	MCCC1	56922	HP:0100659	Abnormality of the cerebral vasculature
OMIM:606170	KAT6B	23522	HP:0000006	Autosomal dominant inheritance
OMIM:606170	KAT6B	23522	HP:0001156	Brachydactyly
OMIM:606170	KAT6B	23522	HP:0009803	Short phalanx of finger
OMIM:606170	KAT6B	23522	HP:0001374	Congenital hip dislocation
OMIM:606170	KAT6B	23522	HP:0000347	Micrognathia
OMIM:606170	KAT6B	23522	HP:0002015	Dysphagia
OMIM:606170	KAT6B	23522	HP:0001274	Agenesis of corpus callosum
OMIM:606170	KAT6B	23522	HP:0002974	Radioulnar synostosis
OMIM:606170	KAT6B	23522	HP:0000046	Scrotal hypoplasia
OMIM:606170	KAT6B	23522	HP:0000054	Micropenis
OMIM:606170	KAT6B	23522	HP:0002089	Pulmonary hypoplasia
OMIM:606170	KAT6B	23522	HP:0001290	Generalized hypotonia
OMIM:606170	KAT6B	23522	HP:0006443	Patellar aplasia
OMIM:606170	KAT6B	23522	HP:0000003	Multicystic kidney dysplasia
OMIM:606170	KAT6B	23522	HP:0003273	Hip contracture
OMIM:606170	KAT6B	23522	HP:0001601	Laryngomalacia
OMIM:606170	KAT6B	23522	HP:0001629	Ventricular septal defect
OMIM:606170	KAT6B	23522	HP:0008665	Clitoral hypertrophy
OMIM:606170	KAT6B	23522	HP:0030048	Colpocephaly
OMIM:606170	KAT6B	23522	HP:0000280	Coarse facial features
OMIM:606170	KAT6B	23522	HP:0000007	Autosomal recessive inheritance
OMIM:606170	KAT6B	23522	HP:0001631	Atrial septal defect
OMIM:606170	KAT6B	23522	HP:0000448	Prominent nose
OMIM:606170	KAT6B	23522	HP:0002209	Sparse scalp hair
OMIM:606170	KAT6B	23522	HP:0000684	Delayed eruption of teeth
OMIM:606170	KAT6B	23522	HP:0001263	Global developmental delay
OMIM:606170	KAT6B	23522	HP:0006887	Intellectual disability, progressive
OMIM:606170	KAT6B	23522	HP:0000252	Microcephaly
OMIM:606170	KAT6B	23522	HP:0000494	Downslanted palpebral fissures
OMIM:606170	KAT6B	23522	HP:0000126	Hydronephrosis
OMIM:606170	KAT6B	23522	HP:0008683	Enlarged labia minora
OMIM:606170	KAT6B	23522	HP:0008823	Hypoplastic inferior pubic rami
OMIM:606170	KAT6B	23522	HP:0003175	Hypoplastic ischia
OMIM:606170	KAT6B	23522	HP:0000445	Wide nose
OMIM:606170	KAT6B	23522	HP:0006380	Knee flexion contracture
OMIM:606170	KAT6B	23522	HP:0000365	Hearing impairment
OMIM:606170	KAT6B	23522	HP:0000426	Prominent nasal bridge
OMIM:606170	KAT6B	23522	HP:0007165	Periventricular gray matter heterotopia
OMIM:606170	KAT6B	23522	HP:0001762	Talipes equinovarus
OMIM:606170	KAT6B	23522	HP:0002999	Patellar dislocation
OMIM:606170	KAT6B	23522	HP:0000028	Cryptorchidism
OMIM:606170	KAT6B	23522	HP:0001561	Polyhydramnios
OMIM:615493	ANK3	288	HP:0000718	Aggressive behavior
OMIM:615493	ANK3	288	HP:0003763	Bruxism
OMIM:615493	ANK3	288	HP:0000007	Autosomal recessive inheritance
OMIM:615493	ANK3	288	HP:0001249	Intellectual disability
OMIM:615493	ANK3	288	HP:0001257	Spasticity
OMIM:615493	ANK3	288	HP:0001250	Seizures
OMIM:615493	ANK3	288	HP:0002342	Intellectual disability, moderate
OMIM:615493	ANK3	288	HP:0001290	Generalized hypotonia
OMIM:615493	ANK3	288	HP:0000752	Hyperactivity
OMIM:254450	CALR	811	HP:0001428	Somatic mutation
OMIM:254450	CALR	811	HP:0005547	Myeloproliferative disorder
OMIM:254450	CALR	811	HP:0011974	Myelofibrosis
OMIM:254450	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:400045	SRY	6736	HP:0010459	True hermaphroditism
OMIM:400045	SRY	6736	HP:0001450	Y-linked inheritance
OMIM:400045	SRY	6736	HP:0012245	Sex reversal
ORPHA:1465	ARID1B	57492	HP:0008398	Hypoplastic fifth fingernail
ORPHA:1465	ARID1B	57492	HP:0000126	Hydronephrosis
ORPHA:1465	ARID1B	57492	HP:0000518	Cataract
ORPHA:1465	ARID1B	57492	HP:0000322	Short philtrum
ORPHA:1465	ARID1B	57492	HP:0005108	Abnormality of the intervertebral disk
ORPHA:1465	ARID1B	57492	HP:0001305	Dandy-Walker malformation
ORPHA:1465	ARID1B	57492	HP:0002205	Recurrent respiratory infections
ORPHA:1465	ARID1B	57492	HP:0008872	Feeding difficulties in infancy
ORPHA:1465	ARID1B	57492	HP:0002230	Generalized hirsutism
ORPHA:1465	ARID1B	57492	HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger
ORPHA:1465	ARID1B	57492	HP:0000431	Wide nasal bridge
ORPHA:1465	ARID1B	57492	HP:0002673	Coxa valga
ORPHA:1465	ARID1B	57492	HP:0005280	Depressed nasal bridge
ORPHA:1465	ARID1B	57492	HP:0000154	Wide mouth
ORPHA:1465	ARID1B	57492	HP:0000776	Congenital diaphragmatic hernia
ORPHA:1465	ARID1B	57492	HP:0000639	Nystagmus
ORPHA:1465	ARID1B	57492	HP:0000632	Lacrimation abnormality
ORPHA:1465	ARID1B	57492	HP:0000086	Ectopic kidney
ORPHA:1465	ARID1B	57492	HP:0000028	Cryptorchidism
ORPHA:1465	ARID1B	57492	HP:0008678	Renal hypoplasia/aplasia
ORPHA:1465	ARID1B	57492	HP:0000965	Cutis marmorata
ORPHA:1465	ARID1B	57492	HP:0001338	Partial agenesis of the corpus callosum
ORPHA:1465	ARID1B	57492	HP:0001511	Intrauterine growth retardation
ORPHA:1465	ARID1B	57492	HP:0000486	Strabismus
ORPHA:1465	ARID1B	57492	HP:0007598	Bilateral single transverse palmar creases
ORPHA:1465	ARID1B	57492	HP:0002808	Kyphosis
ORPHA:1465	ARID1B	57492	HP:0003298	Spina bifida occulta
ORPHA:1465	ARID1B	57492	HP:0000508	Ptosis
ORPHA:1465	ARID1B	57492	HP:0006498	Aplasia/Hypoplasia of the patella
ORPHA:1465	ARID1B	57492	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe
ORPHA:1465	ARID1B	57492	HP:0000175	Cleft palate
ORPHA:1465	ARID1B	57492	HP:0001249	Intellectual disability
ORPHA:1465	ARID1B	57492	HP:0000179	Thick lower lip vermilion
ORPHA:1465	ARID1B	57492	HP:0000252	Microcephaly
ORPHA:1465	ARID1B	57492	HP:0000527	Long eyelashes
ORPHA:1465	ARID1B	57492	HP:0001250	Seizures
ORPHA:1465	ARID1B	57492	HP:0000164	Abnormality of the dentition
ORPHA:1465	ARID1B	57492	HP:0002650	Scoliosis
ORPHA:1465	ARID1B	57492	HP:0000280	Coarse facial features
ORPHA:1465	ARID1B	57492	HP:0000286	Epicanthus
ORPHA:1465	ARID1B	57492	HP:0000574	Thick eyebrow
ORPHA:1465	ARID1B	57492	HP:0001252	Muscular hypotonia
ORPHA:1465	ARID1B	57492	HP:0002217	Slow-growing hair
ORPHA:1465	ARID1B	57492	HP:0004322	Short stature
ORPHA:1465	ARID1B	57492	HP:0000457	Depressed nasal ridge
ORPHA:1465	ARID1B	57492	HP:0000889	Abnormality of the clavicle
ORPHA:1465	ARID1B	57492	HP:0001263	Global developmental delay
ORPHA:1465	ARID1B	57492	HP:0011937	Hypoplastic fifth toenail
ORPHA:1465	ARID1B	57492	HP:0003042	Elbow dislocation
ORPHA:1465	ARID1B	57492	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1465	ARID1B	57492	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:1465	ARID1B	57492	HP:0009882	Short distal phalanx of finger
ORPHA:1465	ARID1B	57492	HP:0000365	Hearing impairment
ORPHA:1465	ARID1B	57492	HP:0005692	Joint hyperflexibility
ORPHA:1465	ARID1B	57492	HP:0003272	Abnormality of the hip bone
ORPHA:1465	ARID1B	57492	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614961	CHMP1A	5119	HP:0002072	Chorea
OMIM:614961	CHMP1A	5119	HP:0000639	Nystagmus
OMIM:614961	CHMP1A	5119	HP:0001257	Spasticity
OMIM:614961	CHMP1A	5119	HP:0001321	Cerebellar hypoplasia
OMIM:614961	CHMP1A	5119	HP:0000545	Myopia
OMIM:614961	CHMP1A	5119	HP:0002020	Gastroesophageal reflux
OMIM:614961	CHMP1A	5119	HP:0001347	Hyperreflexia
OMIM:614961	CHMP1A	5119	HP:0001290	Generalized hypotonia
OMIM:614961	CHMP1A	5119	HP:0002465	Poor speech
OMIM:614961	CHMP1A	5119	HP:0000007	Autosomal recessive inheritance
OMIM:614961	CHMP1A	5119	HP:0001344	Absent speech
OMIM:614961	CHMP1A	5119	HP:0004684	Talipes valgus
OMIM:614961	CHMP1A	5119	HP:0001249	Intellectual disability
OMIM:614961	CHMP1A	5119	HP:0000483	Astigmatism
OMIM:614961	CHMP1A	5119	HP:0002015	Dysphagia
OMIM:614961	CHMP1A	5119	HP:0001263	Global developmental delay
OMIM:614961	CHMP1A	5119	HP:0100704	Cortical visual impairment
OMIM:614961	CHMP1A	5119	HP:0002804	Arthrogryposis multiplex congenita
OMIM:614961	CHMP1A	5119	HP:0000565	Esotropia
OMIM:614961	CHMP1A	5119	HP:0002365	Hypoplasia of the brainstem
OMIM:614961	CHMP1A	5119	HP:0008936	Muscular hypotonia of the trunk
OMIM:614961	CHMP1A	5119	HP:0000998	Hypertrichosis
OMIM:614961	CHMP1A	5119	HP:0001761	Pes cavus
OMIM:614961	CHMP1A	5119	HP:0005484	Postnatal microcephaly
OMIM:614961	CHMP1A	5119	HP:0001762	Talipes equinovarus
OMIM:614961	CHMP1A	5119	HP:0000540	Hypermetropia
OMIM:614961	CHMP1A	5119	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614961	CHMP1A	5119	HP:0003577	Congenital onset
OMIM:606764	PDGFRA	5156	HP:0002015	Dysphagia
OMIM:606764	PDGFRA	5156	HP:0003745	Sporadic
OMIM:606764	PDGFRA	5156	HP:0000006	Autosomal dominant inheritance
OMIM:606764	PDGFRA	5156	HP:0005214	Intestinal obstruction
OMIM:606764	PDGFRA	5156	HP:0100723	Gastrointestinal stroma tumor
OMIM:606764	PDGFRA	5156	HP:0001176	Large hands
OMIM:606764	PDGFRA	5156	HP:0000953	Hyperpigmentation of the skin
OMIM:606764	PDGFRA	5156	HP:0002019	Constipation
OMIM:606764	PDGFRA	5156	HP:0001025	Urticaria
OMIM:606764	PDGFRA	5156	HP:0001067	Neurofibromas
ORPHA:904	ELN	2006	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:904	ELN	2006	HP:0200021	Down-sloping shoulders
ORPHA:904	ELN	2006	HP:0003307	Hyperlordosis
ORPHA:904	ELN	2006	HP:0004322	Short stature
ORPHA:904	ELN	2006	HP:0000343	Long philtrum
ORPHA:904	ELN	2006	HP:0000411	Protruding ear
ORPHA:904	ELN	2006	HP:0000076	Vesicoureteral reflux
ORPHA:904	ELN	2006	HP:0000121	Nephrocalcinosis
ORPHA:904	ELN	2006	HP:0002019	Constipation
ORPHA:904	ELN	2006	HP:0010807	Open bite
ORPHA:904	ELN	2006	HP:0004381	Supravalvular aortic stenosis
ORPHA:904	ELN	2006	HP:0007957	Corneal opacity
ORPHA:904	ELN	2006	HP:0002750	Delayed skeletal maturation
ORPHA:904	ELN	2006	HP:0008661	Urethral stenosis
ORPHA:904	ELN	2006	HP:0001636	Tetralogy of Fallot
ORPHA:904	ELN	2006	HP:0004398	Peptic ulcer
ORPHA:904	ELN	2006	HP:0000023	Inguinal hernia
ORPHA:904	ELN	2006	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:904	ELN	2006	HP:0002253	Colonic diverticula
ORPHA:904	ELN	2006	HP:0003119	Abnormality of lipid metabolism
ORPHA:904	ELN	2006	HP:0000486	Strabismus
ORPHA:904	ELN	2006	HP:0000389	Chronic otitis media
ORPHA:904	ELN	2006	HP:0002999	Patellar dislocation
ORPHA:904	ELN	2006	HP:0100539	Periorbital edema
ORPHA:904	ELN	2006	HP:0007495	Prematurely aged appearance
ORPHA:904	ELN	2006	HP:0000627	Posterior embryotoxon
ORPHA:904	ELN	2006	HP:0000767	Pectus excavatum
ORPHA:904	ELN	2006	HP:0002205	Recurrent respiratory infections
ORPHA:904	ELN	2006	HP:0000635	Blue irides
ORPHA:904	ELN	2006	HP:0000252	Microcephaly
ORPHA:904	ELN	2006	HP:0002857	Genu valgum
ORPHA:904	ELN	2006	HP:0000722	Obsessive-compulsive behavior
ORPHA:904	ELN	2006	HP:0000154	Wide mouth
ORPHA:904	ELN	2006	HP:0000717	Autism
ORPHA:904	ELN	2006	HP:0001260	Dysarthria
ORPHA:904	ELN	2006	HP:0001310	Dysmetria
ORPHA:904	ELN	2006	HP:0000960	Sacral dimple
ORPHA:904	ELN	2006	HP:0001629	Ventricular septal defect
ORPHA:904	ELN	2006	HP:0000464	Abnormality of the neck
ORPHA:904	ELN	2006	HP:0000158	Macroglossia
ORPHA:904	ELN	2006	HP:0001635	Congestive heart failure
ORPHA:904	ELN	2006	HP:0001645	Sudden cardiac death
ORPHA:904	ELN	2006	HP:0002035	Rectal prolapse
ORPHA:904	ELN	2006	HP:0001252	Muscular hypotonia
ORPHA:904	ELN	2006	HP:0001537	Umbilical hernia
ORPHA:904	ELN	2006	HP:0000010	Recurrent urinary tract infections
ORPHA:904	ELN	2006	HP:0001181	Adducted thumb
ORPHA:904	ELN	2006	HP:0003028	Abnormality of the ankles
ORPHA:904	ELN	2006	HP:0003198	Myopathy
ORPHA:904	ELN	2006	HP:0001634	Mitral valve prolapse
ORPHA:904	ELN	2006	HP:0002020	Gastroesophageal reflux
ORPHA:904	ELN	2006	HP:0000545	Myopia
ORPHA:904	ELN	2006	HP:0010526	Dysgraphia
ORPHA:904	ELN	2006	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:904	ELN	2006	HP:0010662	Abnormality of the diencephalon
ORPHA:904	ELN	2006	HP:0100785	Insomnia
ORPHA:904	ELN	2006	HP:0000682	Abnormality of dental enamel
ORPHA:904	ELN	2006	HP:0001631	Atrial septal defect
ORPHA:904	ELN	2006	HP:0001822	Hallux valgus
ORPHA:904	ELN	2006	HP:0001658	Myocardial infarction
ORPHA:904	ELN	2006	HP:0000938	Osteopenia
ORPHA:904	ELN	2006	HP:0100613	Death in early adulthood
ORPHA:904	ELN	2006	HP:0000826	Precocious puberty
ORPHA:904	ELN	2006	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:904	ELN	2006	HP:0000280	Coarse facial features
ORPHA:904	ELN	2006	HP:0008736	Hypoplasia of penis
ORPHA:904	ELN	2006	HP:0000400	Macrotia
ORPHA:904	ELN	2006	HP:0001337	Tremor
ORPHA:904	ELN	2006	HP:0000147	Polycystic ovaries
ORPHA:904	ELN	2006	HP:0000632	Lacrimation abnormality
ORPHA:904	ELN	2006	HP:0001081	Cholelithiasis
ORPHA:904	ELN	2006	HP:0007372	Atrophy/Degeneration involving the corticospinal tracts
ORPHA:904	ELN	2006	HP:0000075	Renal duplication
ORPHA:904	ELN	2006	HP:0001257	Spasticity
ORPHA:904	ELN	2006	HP:0000286	Epicanthus
ORPHA:904	ELN	2006	HP:0001640	Cardiomegaly
ORPHA:904	ELN	2006	HP:0001643	Patent ductus arteriosus
ORPHA:904	ELN	2006	HP:0000337	Broad forehead
ORPHA:904	ELN	2006	HP:0001763	Pes planus
ORPHA:904	ELN	2006	HP:0001513	Obesity
ORPHA:904	ELN	2006	HP:0001969	Tubulointerstitial abnormality
ORPHA:904	ELN	2006	HP:0000670	Carious teeth
ORPHA:904	ELN	2006	HP:0003422	Vertebral segmentation defect
ORPHA:904	ELN	2006	HP:0001647	Bicuspid aortic valve
ORPHA:904	ELN	2006	HP:0002024	Malabsorption
ORPHA:904	ELN	2006	HP:0000518	Cataract
ORPHA:904	ELN	2006	HP:0002575	Tracheoesophageal fistula
ORPHA:904	ELN	2006	HP:0001618	Dysphonia
ORPHA:904	ELN	2006	HP:0000044	Hypogonadotrophic hypogonadism
ORPHA:904	ELN	2006	HP:0000212	Gingival overgrowth
ORPHA:904	ELN	2006	HP:0005113	Aortic arch aneurysm
ORPHA:904	ELN	2006	HP:0001642	Pulmonic stenosis
ORPHA:904	ELN	2006	HP:0003072	Hypercalcemia
ORPHA:904	ELN	2006	HP:0000431	Wide nasal bridge
ORPHA:904	ELN	2006	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:904	ELN	2006	HP:0000347	Micrognathia
ORPHA:904	ELN	2006	HP:0000407	Sensorineural hearing impairment
ORPHA:904	ELN	2006	HP:0007720	Flat cornea
ORPHA:904	ELN	2006	HP:0100817	Renovascular hypertension
ORPHA:904	ELN	2006	HP:0001653	Mitral regurgitation
ORPHA:904	ELN	2006	HP:0002829	Arthralgia
ORPHA:904	ELN	2006	HP:0007477	Abnormal dermatoglyphics
ORPHA:904	ELN	2006	HP:0000716	Depressivity
ORPHA:904	ELN	2006	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:904	ELN	2006	HP:0004295	Abnormality of the gastric mucosa
ORPHA:904	ELN	2006	HP:0000089	Renal hypoplasia
ORPHA:904	ELN	2006	HP:0000179	Thick lower lip vermilion
ORPHA:904	ELN	2006	HP:0003196	Short nose
ORPHA:904	ELN	2006	HP:0000739	Anxiety
ORPHA:904	ELN	2006	HP:0002637	Cerebral ischemia
ORPHA:904	ELN	2006	HP:0010780	Hyperacusis
ORPHA:904	ELN	2006	HP:0010669	Hypoplasia of the zygomatic bone
ORPHA:904	ELN	2006	HP:0011001	Increased bone mineral density
ORPHA:904	ELN	2006	HP:0001361	Nystagmus-induced head nodding
ORPHA:904	ELN	2006	HP:0005344	Abnormal carotid artery morphology
ORPHA:904	ELN	2006	HP:0001387	Joint stiffness
ORPHA:904	ELN	2006	HP:0004209	Clinodactyly of the 5th finger
ORPHA:904	ELN	2006	HP:0002308	Arnold-Chiari malformation
ORPHA:904	ELN	2006	HP:0000083	Renal insufficiency
ORPHA:904	ELN	2006	HP:0001582	Redundant skin
ORPHA:904	ELN	2006	HP:0004428	Elfin facies
ORPHA:904	ELN	2006	HP:0010880	Increased nuchal translucency
ORPHA:904	ELN	2006	HP:0002017	Nausea and vomiting
ORPHA:904	ELN	2006	HP:0000348	High forehead
ORPHA:904	ELN	2006	HP:0002376	Developmental regression
ORPHA:904	ELN	2006	HP:0002808	Kyphosis
ORPHA:904	ELN	2006	HP:0000581	Blepharophimosis
ORPHA:904	ELN	2006	HP:0001800	Hypoplastic toenails
ORPHA:904	ELN	2006	HP:0002974	Radioulnar synostosis
ORPHA:904	ELN	2006	HP:0002644	Abnormality of pelvic girdle bone morphology
ORPHA:904	ELN	2006	HP:0000307	Pointed chin
ORPHA:904	ELN	2006	HP:0005562	Multiple renal cysts
ORPHA:904	ELN	2006	HP:0000691	Microdontia
ORPHA:904	ELN	2006	HP:0000232	Everted lower lip vermilion
ORPHA:904	ELN	2006	HP:0001249	Intellectual disability
ORPHA:904	ELN	2006	HP:0002120	Cerebral cortical atrophy
ORPHA:904	ELN	2006	HP:0000025	Functional abnormality of male internal genitalia
ORPHA:904	ELN	2006	HP:0000501	Glaucoma
ORPHA:904	ELN	2006	HP:0000028	Cryptorchidism
ORPHA:904	ELN	2006	HP:0000939	Osteoporosis
ORPHA:904	ELN	2006	HP:0001052	Nevus flammeus
ORPHA:904	ELN	2006	HP:0001297	Stroke
ORPHA:904	ELN	2006	HP:0000125	Pelvic kidney
ORPHA:904	ELN	2006	HP:0100025	Overfriendliness
ORPHA:904	ELN	2006	HP:0001531	Failure to thrive in infancy
ORPHA:904	ELN	2006	HP:0001347	Hyperreflexia
ORPHA:904	ELN	2006	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:904	ELN	2006	HP:0002650	Scoliosis
ORPHA:904	ELN	2006	HP:0000015	Bladder diverticulum
ORPHA:904	ELN	2006	HP:0002150	Hypercalciuria
ORPHA:904	ELN	2006	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:904	ELN	2006	HP:0002141	Gait imbalance
ORPHA:904	ELN	2006	HP:0002623	Overriding aorta
ORPHA:904	ELN	2006	HP:0000485	Megalocornea
ORPHA:904	ELN	2006	HP:0000821	Hypothyroidism
ORPHA:904	ELN	2006	HP:0001231	Abnormality of the fingernails
ORPHA:904	ELN	2006	HP:0000505	Visual impairment
ORPHA:904	ELN	2006	HP:0005978	Type II diabetes mellitus
ORPHA:904	ELN	2006	HP:0000689	Dental malocclusion
ORPHA:904	ELN	2006	HP:0001388	Joint laxity
ORPHA:904	ELN	2006	HP:0000275	Narrow face
ORPHA:904	ELN	2006	HP:0000787	Nephrolithiasis
ORPHA:904	ELN	2006	HP:0001609	Hoarse voice
ORPHA:904	ELN	2006	HP:0005692	Joint hyperflexibility
ORPHA:904	ELN	2006	HP:0003298	Spina bifida occulta
ORPHA:904	ELN	2006	HP:0002183	Phonophobia
ORPHA:904	ELN	2006	HP:0000093	Proteinuria
ORPHA:904	ELN	2006	HP:0001136	Retinal arteriolar tortuosity
ORPHA:904	ELN	2006	HP:0008499	High hypermetropia
ORPHA:904	ELN	2006	HP:0000668	Hypodontia
ORPHA:904	ELN	2006	HP:0002027	Abdominal pain
ORPHA:904	ELN	2006	HP:0004306	Abnormal endocardium morphology
ORPHA:475	TCTN1	79600	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:475	TCTN1	79600	HP:0000202	Oral cleft
ORPHA:475	TCTN1	79600	HP:0000463	Anteverted nares
ORPHA:475	TCTN1	79600	HP:0000639	Nystagmus
ORPHA:475	TCTN1	79600	HP:0001696	Situs inversus totalis
ORPHA:475	TCTN1	79600	HP:0001337	Tremor
ORPHA:475	TCTN1	79600	HP:0000612	Iris coloboma
ORPHA:475	TCTN1	79600	HP:0002084	Encephalocele
ORPHA:475	TCTN1	79600	HP:0002650	Scoliosis
ORPHA:475	TCTN1	79600	HP:0004422	Biparietal narrowing
ORPHA:475	TCTN1	79600	HP:0001249	Intellectual disability
ORPHA:475	TCTN1	79600	HP:0002876	Episodic tachypnea
ORPHA:475	TCTN1	79600	HP:0003312	Abnormal form of the vertebral bodies
ORPHA:475	TCTN1	79600	HP:0000657	Oculomotor apraxia
ORPHA:475	TCTN1	79600	HP:0000426	Prominent nasal bridge
ORPHA:475	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
ORPHA:475	TCTN1	79600	HP:0002104	Apnea
ORPHA:475	TCTN1	79600	HP:0001288	Gait disturbance
ORPHA:475	TCTN1	79600	HP:0000276	Long face
ORPHA:475	TCTN1	79600	HP:0002553	Highly arched eyebrow
ORPHA:475	TCTN1	79600	HP:0008872	Feeding difficulties in infancy
ORPHA:475	TCTN1	79600	HP:0000238	Hydrocephalus
ORPHA:475	TCTN1	79600	HP:0001161	Hand polydactyly
ORPHA:475	TCTN1	79600	HP:0000369	Low-set ears
ORPHA:475	TCTN1	79600	HP:0000508	Ptosis
ORPHA:475	TCTN1	79600	HP:0002126	Polymicrogyria
ORPHA:475	TCTN1	79600	HP:0001263	Global developmental delay
ORPHA:475	TCTN1	79600	HP:0001829	Foot polydactyly
ORPHA:475	TCTN1	79600	HP:0001251	Ataxia
ORPHA:475	TCTN1	79600	HP:0000486	Strabismus
ORPHA:475	TCTN1	79600	HP:0001250	Seizures
ORPHA:475	TCTN1	79600	HP:0001252	Muscular hypotonia
ORPHA:475	TCTN1	79600	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:475	TCTN1	79600	HP:0002251	Aganglionic megacolon
OMIM:614415	SAMHD1	25939	HP:0000006	Autosomal dominant inheritance
OMIM:614415	SAMHD1	25939	HP:0000992	Cutaneous photosensitivity
ORPHA:233	CHN1	1123	HP:0000463	Anteverted nares
ORPHA:233	CHN1	1123	HP:0009601	Aplasia/Hypoplasia of the thumb
ORPHA:233	CHN1	1123	HP:0001177	Preaxial hand polydactyly
ORPHA:233	CHN1	1123	HP:0000646	Amblyopia
ORPHA:233	CHN1	1123	HP:0001762	Talipes equinovarus
ORPHA:233	CHN1	1123	HP:0000384	Preauricular skin tag
ORPHA:233	CHN1	1123	HP:0001156	Brachydactyly
ORPHA:233	CHN1	1123	HP:0012246	Oculomotor nerve palsy
ORPHA:233	CHN1	1123	HP:0000252	Microcephaly
ORPHA:233	CHN1	1123	HP:0007766	Optic disc hypoplasia
ORPHA:233	CHN1	1123	HP:0005640	Abnormal vertebral segmentation and fusion
ORPHA:233	CHN1	1123	HP:0000232	Everted lower lip vermilion
ORPHA:233	CHN1	1123	HP:0000465	Webbed neck
ORPHA:233	CHN1	1123	HP:0000567	Chorioretinal coloboma
ORPHA:233	CHN1	1123	HP:0011386	Narrow internal auditory canal
ORPHA:233	CHN1	1123	HP:0012745	Short palpebral fissure
ORPHA:233	CHN1	1123	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:233	CHN1	1123	HP:0000508	Ptosis
ORPHA:233	CHN1	1123	HP:0000431	Wide nasal bridge
ORPHA:233	CHN1	1123	HP:0011365	Patchy hypopigmentation of hair
ORPHA:233	CHN1	1123	HP:0000482	Microcornea
ORPHA:233	CHN1	1123	HP:0000612	Iris coloboma
ORPHA:233	CHN1	1123	HP:0003202	Skeletal muscle atrophy
ORPHA:233	CHN1	1123	HP:0007990	Hypoplastic iris stroma
ORPHA:233	CHN1	1123	HP:0003974	Absent radius
ORPHA:233	CHN1	1123	HP:0002984	Hypoplasia of the radius
ORPHA:233	CHN1	1123	HP:0000639	Nystagmus
ORPHA:233	CHN1	1123	HP:0008572	External ear malformation
ORPHA:233	CHN1	1123	HP:0000581	Blepharophimosis
ORPHA:233	CHN1	1123	HP:0000526	Aniridia
ORPHA:233	CHN1	1123	HP:0000486	Strabismus
ORPHA:233	CHN1	1123	HP:0000347	Micrognathia
ORPHA:233	CHN1	1123	HP:0002162	Low posterior hairline
ORPHA:233	CHN1	1123	HP:0012385	Camptodactyly
ORPHA:233	CHN1	1123	HP:0001053	Hypopigmented skin patches
ORPHA:233	CHN1	1123	HP:0000086	Ectopic kidney
ORPHA:233	CHN1	1123	HP:0007818	Central heterochromia
ORPHA:233	CHN1	1123	HP:0000407	Sensorineural hearing impairment
ORPHA:233	CHN1	1123	HP:0001263	Global developmental delay
ORPHA:233	CHN1	1123	HP:0007400	Irregular hyperpigmentation
ORPHA:233	CHN1	1123	HP:0000470	Short neck
ORPHA:233	CHN1	1123	HP:0000402	Stenosis of the external auditory canal
ORPHA:233	CHN1	1123	HP:0003298	Spina bifida occulta
ORPHA:233	CHN1	1123	HP:0000324	Facial asymmetry
ORPHA:233	CHN1	1123	HP:0001357	Plagiocephaly
ORPHA:233	CHN1	1123	HP:0000490	Deeply set eye
ORPHA:233	CHN1	1123	HP:0001250	Seizures
ORPHA:233	CHN1	1123	HP:0012732	Anorectal anomaly
ORPHA:233	CHN1	1123	HP:0000643	Blepharospasm
ORPHA:233	CHN1	1123	HP:0000175	Cleft palate
ORPHA:233	CHN1	1123	HP:0001199	Triphalangeal thumb
ORPHA:233	CHN1	1123	HP:0000615	Abnormal pupil morphology
ORPHA:233	CHN1	1123	HP:0003312	Abnormal form of the vertebral bodies
OMIM:615440	ELAC2	60528	HP:0001263	Global developmental delay
OMIM:615440	ELAC2	60528	HP:0001290	Generalized hypotonia
OMIM:615440	ELAC2	60528	HP:0001508	Failure to thrive
OMIM:615440	ELAC2	60528	HP:0001635	Congestive heart failure
OMIM:615440	ELAC2	60528	HP:0000365	Hearing impairment
OMIM:615440	ELAC2	60528	HP:0000007	Autosomal recessive inheritance
OMIM:615440	ELAC2	60528	HP:0000252	Microcephaly
OMIM:615440	ELAC2	60528	HP:0001510	Growth delay
OMIM:615440	ELAC2	60528	HP:0001639	Hypertrophic cardiomyopathy
OMIM:615440	ELAC2	60528	HP:0003128	Lactic acidosis
ORPHA:251056	ARID1B	57492	HP:0100490	Camptodactyly of finger
ORPHA:251056	ARID1B	57492	HP:0000431	Wide nasal bridge
ORPHA:251056	ARID1B	57492	HP:0000582	Upslanted palpebral fissure
ORPHA:251056	ARID1B	57492	HP:0001508	Failure to thrive
ORPHA:251056	ARID1B	57492	HP:0000343	Long philtrum
ORPHA:251056	ARID1B	57492	HP:0000504	Abnormality of vision
ORPHA:251056	ARID1B	57492	HP:0000368	Low-set, posteriorly rotated ears
ORPHA:251056	ARID1B	57492	HP:0000175	Cleft palate
ORPHA:251056	ARID1B	57492	HP:0001256	Intellectual disability, mild
ORPHA:251056	ARID1B	57492	HP:0001263	Global developmental delay
ORPHA:251056	ARID1B	57492	HP:0000316	Hypertelorism
ORPHA:251056	ARID1B	57492	HP:0000377	Abnormality of the pinna
ORPHA:251056	ARID1B	57492	HP:0004322	Short stature
ORPHA:251056	ARID1B	57492	HP:0001319	Neonatal hypotonia
ORPHA:251056	ARID1B	57492	HP:0001357	Plagiocephaly
ORPHA:251056	ARID1B	57492	HP:0000407	Sensorineural hearing impairment
ORPHA:251056	ARID1B	57492	HP:0000272	Malar flattening
ORPHA:251056	ARID1B	57492	HP:0000286	Epicanthus
ORPHA:251056	ARID1B	57492	HP:0004209	Clinodactyly of the 5th finger
ORPHA:251056	ARID1B	57492	HP:0000347	Micrognathia
ORPHA:251056	ARID1B	57492	HP:0001274	Agenesis of corpus callosum
ORPHA:251056	ARID1B	57492	HP:0003241	External genital hypoplasia
ORPHA:251056	ARID1B	57492	HP:0001250	Seizures
ORPHA:251056	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
ORPHA:251056	ARID1B	57492	HP:0002119	Ventriculomegaly
ORPHA:251056	ARID1B	57492	HP:0000252	Microcephaly
ORPHA:251056	ARID1B	57492	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:251056	ARID1B	57492	HP:0000218	High palate
ORPHA:251056	ARID1B	57492	HP:0001838	Rocker bottom foot
OMIM:606744	RBBP8	5932	HP:0011342	Mild global developmental delay
OMIM:606744	RBBP8	5932	HP:0001518	Small for gestational age
OMIM:606744	RBBP8	5932	HP:0030148	Heart murmur
OMIM:606744	RBBP8	5932	HP:0001510	Growth delay
OMIM:606744	RBBP8	5932	HP:0000568	Microphthalmia
OMIM:606744	RBBP8	5932	HP:0000347	Micrognathia
OMIM:606744	RBBP8	5932	HP:0001620	High pitched voice
OMIM:606744	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:606744	RBBP8	5932	HP:0000448	Prominent nose
OMIM:606744	RBBP8	5932	HP:0007429	Few cafe-au-lait spots
OMIM:606744	RBBP8	5932	HP:0000047	Hypospadias
OMIM:606744	RBBP8	5932	HP:0000171	Microglossia
OMIM:606744	RBBP8	5932	HP:0000691	Microdontia
OMIM:606744	RBBP8	5932	HP:0000252	Microcephaly
OMIM:606744	RBBP8	5932	HP:0004209	Clinodactyly of the 5th finger
OMIM:606744	RBBP8	5932	HP:0001321	Cerebellar hypoplasia
OMIM:606744	RBBP8	5932	HP:0000086	Ectopic kidney
OMIM:606744	RBBP8	5932	HP:0000341	Narrow forehead
OMIM:312863	IL2RG	3561	HP:0001419	X-linked recessive inheritance
OMIM:312863	IL2RG	3561	HP:0005387	Combined immunodeficiency
OMIM:312863	IL2RG	3561	HP:0002090	Pneumonia
OMIM:312863	IL2RG	3561	HP:0004315	IgG deficiency
OMIM:312863	IL2RG	3561	HP:0000246	Sinusitis
OMIM:312863	IL2RG	3561	HP:0002837	Recurrent bronchitis
OMIM:312863	IL2RG	3561	HP:0000388	Otitis media
OMIM:312863	IL2RG	3561	HP:0005415	Decreased proportion of CD8-positive T cells
OMIM:312863	IL2RG	3561	HP:0005407	Decreased proportion of CD4-positive T cells
OMIM:607323	SALL4	57167	HP:0000085	Horseshoe kidney
OMIM:607323	SALL4	57167	HP:0002023	Anal atresia
OMIM:607323	SALL4	57167	HP:0100258	Preaxial polydactyly
OMIM:607323	SALL4	57167	HP:0000487	Congenital strabismus
OMIM:607323	SALL4	57167	HP:0003298	Spina bifida occulta
OMIM:607323	SALL4	57167	HP:0003974	Absent radius
OMIM:607323	SALL4	57167	HP:0010628	Facial palsy
OMIM:607323	SALL4	57167	HP:0000634	Impaired ocular abduction
OMIM:607323	SALL4	57167	HP:0001763	Pes planus
OMIM:607323	SALL4	57167	HP:0001629	Ventricular septal defect
OMIM:607323	SALL4	57167	HP:0001631	Atrial septal defect
OMIM:607323	SALL4	57167	HP:0001245	Small thenar eminence
OMIM:607323	SALL4	57167	HP:0003812	Phenotypic variability
OMIM:607323	SALL4	57167	HP:0001852	Sandal gap
OMIM:607323	SALL4	57167	HP:0000089	Renal hypoplasia
OMIM:607323	SALL4	57167	HP:0002949	Fused cervical vertebrae
OMIM:607323	SALL4	57167	HP:0008998	Pectoralis hypoplasia
OMIM:607323	SALL4	57167	HP:0000453	Choanal atresia
OMIM:607323	SALL4	57167	HP:0000452	Choanal stenosis
OMIM:607323	SALL4	57167	HP:0001739	Abnormality of the nasopharynx
OMIM:607323	SALL4	57167	HP:0000104	Renal agenesis
OMIM:607323	SALL4	57167	HP:0000619	Impaired convergence
OMIM:607323	SALL4	57167	HP:0010048	Aplasia of metacarpal bones
OMIM:607323	SALL4	57167	HP:0004712	Renal malrotation
OMIM:607323	SALL4	57167	HP:0000316	Hypertelorism
OMIM:607323	SALL4	57167	HP:0002650	Scoliosis
OMIM:607323	SALL4	57167	HP:0000286	Epicanthus
OMIM:607323	SALL4	57167	HP:0000006	Autosomal dominant inheritance
OMIM:607323	SALL4	57167	HP:0002984	Hypoplasia of the radius
OMIM:607323	SALL4	57167	HP:0000661	Palpebral fissure narrowing on adduction
OMIM:607323	SALL4	57167	HP:0002025	Anal stenosis
OMIM:607323	SALL4	57167	HP:0000542	Impaired ocular adduction
OMIM:607323	SALL4	57167	HP:0000612	Iris coloboma
OMIM:607323	SALL4	57167	HP:0009777	Absent thumb
OMIM:607323	SALL4	57167	HP:0009778	Short thumb
OMIM:607323	SALL4	57167	HP:0004736	Crossed fused renal ectopia
OMIM:607323	SALL4	57167	HP:0009486	Radial deviation of the hand
OMIM:607323	SALL4	57167	HP:0000407	Sensorineural hearing impairment
OMIM:607323	SALL4	57167	HP:0000480	Retinal coloboma
OMIM:607323	SALL4	57167	HP:0005792	Short humerus
OMIM:607323	SALL4	57167	HP:0008588	Slit-like opening of the exterior auditory meatus
OMIM:607323	SALL4	57167	HP:0000518	Cataract
OMIM:607323	SALL4	57167	HP:0001199	Triphalangeal thumb
OMIM:607323	SALL4	57167	HP:0001159	Syndactyly
OMIM:607323	SALL4	57167	HP:0000324	Facial asymmetry
OMIM:607323	SALL4	57167	HP:0009016	Upper limb muscle hypoplasia
OMIM:607323	SALL4	57167	HP:0003022	Hypoplasia of the ulna
OMIM:607323	SALL4	57167	HP:0000568	Microphthalmia
OMIM:607323	SALL4	57167	HP:0000076	Vesicoureteral reflux
OMIM:607323	SALL4	57167	HP:0002251	Aganglionic megacolon
OMIM:607323	SALL4	57167	HP:0007766	Optic disc hypoplasia
OMIM:607323	SALL4	57167	HP:0000126	Hydronephrosis
OMIM:607323	SALL4	57167	HP:0009921	Duane anomaly
OMIM:615873	ADNP	23394	HP:0001250	Seizures
OMIM:615873	ADNP	23394	HP:0002719	Recurrent infections
OMIM:615873	ADNP	23394	HP:0000752	Hyperactivity
OMIM:615873	ADNP	23394	HP:0000319	Smooth philtrum
OMIM:615873	ADNP	23394	HP:0000431	Wide nasal bridge
OMIM:615873	ADNP	23394	HP:0011220	Prominent forehead
OMIM:615873	ADNP	23394	HP:0000540	Hypermetropia
OMIM:615873	ADNP	23394	HP:0000733	Stereotypy
OMIM:615873	ADNP	23394	HP:0000505	Visual impairment
OMIM:615873	ADNP	23394	HP:0200055	Small hand
OMIM:615873	ADNP	23394	HP:0000219	Thin upper lip vermilion
OMIM:615873	ADNP	23394	HP:0000006	Autosomal dominant inheritance
OMIM:615873	ADNP	23394	HP:0004322	Short stature
OMIM:615873	ADNP	23394	HP:0000494	Downslanted palpebral fissures
OMIM:615873	ADNP	23394	HP:0000625	Eyelid coloboma
OMIM:615873	ADNP	23394	HP:0000729	Autistic behavior
OMIM:615873	ADNP	23394	HP:0003593	Infantile onset
OMIM:615873	ADNP	23394	HP:0001388	Joint laxity
OMIM:615873	ADNP	23394	HP:0002463	Language impairment
OMIM:615873	ADNP	23394	HP:0011968	Feeding difficulties
OMIM:615873	ADNP	23394	HP:0000508	Ptosis
OMIM:615873	ADNP	23394	HP:0000722	Obsessive-compulsive behavior
OMIM:615873	ADNP	23394	HP:0000486	Strabismus
OMIM:615873	ADNP	23394	HP:0001513	Obesity
OMIM:615873	ADNP	23394	HP:0001627	Abnormal heart morphology
OMIM:615873	ADNP	23394	HP:0003196	Short nose
OMIM:615873	ADNP	23394	HP:0001249	Intellectual disability
OMIM:615873	ADNP	23394	HP:0001263	Global developmental delay
OMIM:615873	ADNP	23394	HP:0001290	Generalized hypotonia
OMIM:616393	EEF1A2	1917	HP:0000286	Epicanthus
OMIM:616393	EEF1A2	1917	HP:0002714	Downturned corners of mouth
OMIM:616393	EEF1A2	1917	HP:0010864	Intellectual disability, severe
OMIM:616393	EEF1A2	1917	HP:0000232	Everted lower lip vermilion
OMIM:616393	EEF1A2	1917	HP:0000006	Autosomal dominant inheritance
OMIM:616393	EEF1A2	1917	HP:0000718	Aggressive behavior
OMIM:616393	EEF1A2	1917	HP:0000494	Downslanted palpebral fissures
OMIM:616393	EEF1A2	1917	HP:0000490	Deeply set eye
OMIM:616393	EEF1A2	1917	HP:0001319	Neonatal hypotonia
OMIM:616393	EEF1A2	1917	HP:0001249	Intellectual disability
OMIM:616393	EEF1A2	1917	HP:0005280	Depressed nasal bridge
OMIM:616393	EEF1A2	1917	HP:0000369	Low-set ears
OMIM:616393	EEF1A2	1917	HP:0001252	Muscular hypotonia
OMIM:616393	EEF1A2	1917	HP:0001263	Global developmental delay
OMIM:616393	EEF1A2	1917	HP:0003593	Infantile onset
OMIM:616393	EEF1A2	1917	HP:0001250	Seizures
OMIM:616393	EEF1A2	1917	HP:0010804	Tented upper lip vermilion
OMIM:602772	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:602772	EYS	346007	HP:0000662	Nyctalopia
OMIM:602772	EYS	346007	HP:0007737	Bone spicule pigmentation of the retina
OMIM:602772	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:602772	EYS	346007	HP:0000550	Undetectable electroretinogram
OMIM:602772	EYS	346007	HP:0001133	Constriction of peripheral visual field
OMIM:602772	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
ORPHA:3303	CITED2	10370	HP:0000268	Dolichocephaly
ORPHA:3303	CITED2	10370	HP:0001156	Brachydactyly
ORPHA:3303	CITED2	10370	HP:0000028	Cryptorchidism
ORPHA:3303	CITED2	10370	HP:0000337	Broad forehead
ORPHA:3303	CITED2	10370	HP:0001511	Intrauterine growth retardation
ORPHA:3303	CITED2	10370	HP:0005105	Abnormal nasal morphology
ORPHA:3303	CITED2	10370	HP:0004209	Clinodactyly of the 5th finger
ORPHA:3303	CITED2	10370	HP:0000520	Proptosis
ORPHA:3303	CITED2	10370	HP:0000233	Thin vermilion border
ORPHA:3303	CITED2	10370	HP:0004467	Preauricular pit
ORPHA:3303	CITED2	10370	HP:0001636	Tetralogy of Fallot
ORPHA:3303	CITED2	10370	HP:0009891	Underdeveloped supraorbital ridges
OMIM:613065	BCR	613	HP:0010982	Polygenic inheritance
OMIM:613065	BCR	613	HP:0006721	Acute lymphoblastic leukemia
OMIM:600373	LONP1	9361	HP:0002750	Delayed skeletal maturation
OMIM:600373	LONP1	9361	HP:0000028	Cryptorchidism
OMIM:600373	LONP1	9361	HP:0001631	Atrial septal defect
OMIM:600373	LONP1	9361	HP:0003417	Coronal cleft vertebrae
OMIM:600373	LONP1	9361	HP:0001561	Polyhydramnios
OMIM:600373	LONP1	9361	HP:0003311	Hypoplasia of the odontoid process
OMIM:600373	LONP1	9361	HP:0006297	Hypoplasia of dental enamel
OMIM:600373	LONP1	9361	HP:0000508	Ptosis
OMIM:600373	LONP1	9361	HP:0009623	Proximal placement of thumb
OMIM:600373	LONP1	9361	HP:0000684	Delayed eruption of teeth
OMIM:600373	LONP1	9361	HP:0002023	Anal atresia
OMIM:600373	LONP1	9361	HP:0005792	Short humerus
OMIM:600373	LONP1	9361	HP:0001250	Seizures
OMIM:600373	LONP1	9361	HP:0001263	Global developmental delay
OMIM:600373	LONP1	9361	HP:0000143	Rectovaginal fistula
OMIM:600373	LONP1	9361	HP:0000519	Congenital cataract
OMIM:600373	LONP1	9361	HP:0001290	Generalized hypotonia
OMIM:600373	LONP1	9361	HP:0002857	Genu valgum
OMIM:600373	LONP1	9361	HP:0005280	Depressed nasal bridge
OMIM:600373	LONP1	9361	HP:0001374	Congenital hip dislocation
OMIM:600373	LONP1	9361	HP:0004322	Short stature
OMIM:600373	LONP1	9361	HP:0001539	Omphalocele
OMIM:600373	LONP1	9361	HP:0002079	Hypoplasia of the corpus callosum
OMIM:600373	LONP1	9361	HP:0006695	Atrioventricular canal defect
OMIM:600373	LONP1	9361	HP:0001216	Delayed ossification of carpal bones
OMIM:600373	LONP1	9361	HP:0008081	Pes valgus
OMIM:600373	LONP1	9361	HP:0003177	Squared iliac bones
OMIM:600373	LONP1	9361	HP:0100255	Metaphyseal dysplasia
OMIM:600373	LONP1	9361	HP:0009803	Short phalanx of finger
OMIM:600373	LONP1	9361	HP:0000463	Anteverted nares
OMIM:600373	LONP1	9361	HP:0001604	Vocal cord paresis
OMIM:600373	LONP1	9361	HP:0002682	Broad skull
OMIM:600373	LONP1	9361	HP:0000407	Sensorineural hearing impairment
OMIM:600373	LONP1	9361	HP:0010049	Short metacarpal
OMIM:600373	LONP1	9361	HP:0000007	Autosomal recessive inheritance
OMIM:600373	LONP1	9361	HP:0001629	Ventricular septal defect
OMIM:614976	MEGF8	1954	HP:0000316	Hypertelorism
OMIM:614976	MEGF8	1954	HP:0100259	Postaxial polydactyly
OMIM:614976	MEGF8	1954	HP:0005280	Depressed nasal bridge
OMIM:614976	MEGF8	1954	HP:0001537	Umbilical hernia
OMIM:614976	MEGF8	1954	HP:0000582	Upslanted palpebral fissure
OMIM:614976	MEGF8	1954	HP:0000007	Autosomal recessive inheritance
OMIM:614976	MEGF8	1954	HP:0011304	Broad thumb
OMIM:614976	MEGF8	1954	HP:0012385	Camptodactyly
OMIM:614976	MEGF8	1954	HP:0000263	Oxycephaly
OMIM:614976	MEGF8	1954	HP:0002812	Coxa vara
OMIM:614976	MEGF8	1954	HP:0002557	Hypoplastic nipples
OMIM:614976	MEGF8	1954	HP:0000369	Low-set ears
OMIM:614976	MEGF8	1954	HP:0000248	Brachycephaly
OMIM:614976	MEGF8	1954	HP:0001669	Transposition of the great arteries
OMIM:614976	MEGF8	1954	HP:0001363	Craniosynostosis
OMIM:614976	MEGF8	1954	HP:0000463	Anteverted nares
OMIM:614976	MEGF8	1954	HP:0000535	Sparse and thin eyebrow
OMIM:614976	MEGF8	1954	HP:0001643	Patent ductus arteriosus
OMIM:614976	MEGF8	1954	HP:0002007	Frontal bossing
OMIM:614976	MEGF8	1954	HP:0000054	Micropenis
OMIM:614976	MEGF8	1954	HP:0000243	Trigonocephaly
OMIM:614976	MEGF8	1954	HP:0000049	Shawl scrotum
OMIM:614976	MEGF8	1954	HP:0001156	Brachydactyly
OMIM:614976	MEGF8	1954	HP:0009933	Narrow naris
OMIM:614976	MEGF8	1954	HP:0000767	Pectus excavatum
OMIM:614976	MEGF8	1954	HP:0002558	Supernumerary nipple
OMIM:614976	MEGF8	1954	HP:0000189	Narrow palate
OMIM:614976	MEGF8	1954	HP:0010554	Cutaneous finger syndactyly
OMIM:614976	MEGF8	1954	HP:0010239	Aplasia of the middle phalanx of the hand
OMIM:614976	MEGF8	1954	HP:0000973	Cutis laxa
OMIM:614976	MEGF8	1954	HP:0000286	Epicanthus
OMIM:614976	MEGF8	1954	HP:0002553	Highly arched eyebrow
OMIM:614976	MEGF8	1954	HP:0001263	Global developmental delay
OMIM:614976	MEGF8	1954	HP:0011800	Midface retrusion
OMIM:614976	MEGF8	1954	HP:0001696	Situs inversus totalis
OMIM:614976	MEGF8	1954	HP:0001631	Atrial septal defect
OMIM:614976	MEGF8	1954	HP:0000768	Pectus carinatum
OMIM:614976	MEGF8	1954	HP:0000431	Wide nasal bridge
OMIM:614976	MEGF8	1954	HP:0000407	Sensorineural hearing impairment
OMIM:614976	MEGF8	1954	HP:0000218	High palate
OMIM:614976	MEGF8	1954	HP:0100258	Preaxial polydactyly
OMIM:614976	MEGF8	1954	HP:0000028	Cryptorchidism
OMIM:614976	MEGF8	1954	HP:0000278	Retrognathia
OMIM:614976	MEGF8	1954	HP:0001762	Talipes equinovarus
OMIM:614976	MEGF8	1954	HP:0001513	Obesity
OMIM:614976	MEGF8	1954	HP:0000465	Webbed neck
OMIM:614976	MEGF8	1954	HP:0000470	Short neck
OMIM:614976	MEGF8	1954	HP:0000411	Protruding ear
OMIM:614976	MEGF8	1954	HP:0006610	Wide intermamillary distance
OMIM:616795	CACNA1G	8913	HP:0001337	Tremor
OMIM:616795	CACNA1G	8913	HP:0001260	Dysarthria
OMIM:616795	CACNA1G	8913	HP:0000020	Urinary incontinence
OMIM:616795	CACNA1G	8913	HP:0000666	Horizontal nystagmus
OMIM:616795	CACNA1G	8913	HP:0002064	Spastic gait
OMIM:616795	CACNA1G	8913	HP:0100543	Cognitive impairment
OMIM:616795	CACNA1G	8913	HP:0002497	Spastic ataxia
OMIM:616795	CACNA1G	8913	HP:0000716	Depressivity
OMIM:616795	CACNA1G	8913	HP:0002317	Unsteady gait
OMIM:616795	CACNA1G	8913	HP:0006938	Impaired vibration sensation at ankles
OMIM:616795	CACNA1G	8913	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
OMIM:616795	CACNA1G	8913	HP:0000006	Autosomal dominant inheritance
OMIM:616795	CACNA1G	8913	HP:0001152	Saccadic smooth pursuit
OMIM:616795	CACNA1G	8913	HP:0001272	Cerebellar atrophy
OMIM:616795	CACNA1G	8913	HP:0002015	Dysphagia
OMIM:616795	CACNA1G	8913	HP:0003677	Slow progression
OMIM:616795	CACNA1G	8913	HP:0031166	Eyelid myokymia
OMIM:616795	CACNA1G	8913	HP:0000651	Diplopia
OMIM:616795	CACNA1G	8913	HP:0001347	Hyperreflexia
OMIM:616795	CACNA1G	8913	HP:0000012	Urinary urgency
OMIM:616795	CACNA1G	8913	HP:0003487	Babinski sign
ORPHA:51083	CACNA2D1	781	HP:0001663	Ventricular fibrillation
ORPHA:51083	CACNA2D1	781	HP:0001678	Atrioventricular block
ORPHA:51083	CACNA2D1	781	HP:0012232	Shortened QT interval
ORPHA:51083	CACNA2D1	781	HP:0001662	Bradycardia
ORPHA:51083	CACNA2D1	781	HP:0001279	Syncope
ORPHA:51083	CACNA2D1	781	HP:0001962	Palpitations
ORPHA:51083	CACNA2D1	781	HP:0001645	Sudden cardiac death
ORPHA:51083	CACNA2D1	781	HP:0005110	Atrial fibrillation
ORPHA:189427	GNAS	2778	HP:0001324	Muscle weakness
ORPHA:189427	GNAS	2778	HP:0002858	Meningioma
ORPHA:189427	GNAS	2778	HP:0001956	Truncal obesity
ORPHA:189427	GNAS	2778	HP:0000311	Round face
ORPHA:189427	GNAS	2778	HP:0008231	Macronodular adrenal hyperplasia
ORPHA:189427	GNAS	2778	HP:0000978	Bruising susceptibility
ORPHA:189427	GNAS	2778	HP:0012378	Fatigue
ORPHA:189427	GNAS	2778	HP:0002230	Generalized hirsutism
ORPHA:189427	GNAS	2778	HP:0000939	Osteoporosis
ORPHA:189427	GNAS	2778	HP:0400008	Menometrorrhagia
ORPHA:189427	GNAS	2778	HP:0000716	Depressivity
ORPHA:189427	GNAS	2778	HP:0000822	Hypertension
ORPHA:189427	GNAS	2778	HP:0000819	Diabetes mellitus
ORPHA:189427	GNAS	2778	HP:0000787	Nephrolithiasis
ORPHA:189427	GNAS	2778	HP:0000963	Thin skin
ORPHA:189427	GNAS	2778	HP:0001508	Failure to thrive
OMIM:604391	MRE11	4361	HP:0000007	Autosomal recessive inheritance
OMIM:604391	MRE11	4361	HP:0002061	Lower limb spasticity
OMIM:604391	MRE11	4361	HP:0003676	Progressive
OMIM:604391	MRE11	4361	HP:0001332	Dystonia
OMIM:604391	MRE11	4361	HP:0001260	Dysarthria
OMIM:604391	MRE11	4361	HP:0000657	Oculomotor apraxia
OMIM:604391	MRE11	4361	HP:0000571	Hypometric saccades
OMIM:604391	MRE11	4361	HP:0001009	Telangiectasia
OMIM:604391	MRE11	4361	HP:0000640	Gaze-evoked nystagmus
OMIM:604391	MRE11	4361	HP:0001265	Hyporeflexia
OMIM:604391	MRE11	4361	HP:0001272	Cerebellar atrophy
OMIM:604391	MRE11	4361	HP:0003828	Variable expressivity
OMIM:604391	MRE11	4361	HP:0002066	Gait ataxia
OMIM:604391	MRE11	4361	HP:0002072	Chorea
OMIM:604391	MRE11	4361	HP:0002359	Frequent falls
OMIM:604391	MRE11	4361	HP:0002075	Dysdiadochokinesis
OMIM:604391	MRE11	4361	HP:0003693	Distal amyotrophy
OMIM:604391	MRE11	4361	HP:0007772	Impaired smooth pursuit
OMIM:604356	CHN1	1123	HP:0000006	Autosomal dominant inheritance
OMIM:604356	CHN1	1123	HP:0000646	Amblyopia
OMIM:604356	CHN1	1123	HP:0009921	Duane anomaly
OMIM:616833	ZNF687	57592	HP:0000006	Autosomal dominant inheritance
OMIM:616833	ZNF687	57592	HP:0002653	Bone pain
OMIM:616833	ZNF687	57592	HP:0003155	Elevated alkaline phosphatase
OMIM:616833	ZNF687	57592	HP:0001677	Coronary artery atherosclerosis
OMIM:616833	ZNF687	57592	HP:0000121	Nephrocalcinosis
OMIM:616833	ZNF687	57592	HP:0003581	Adult onset
OMIM:616833	ZNF687	57592	HP:0002757	Recurrent fractures
OMIM:616833	ZNF687	57592	HP:0001712	Left ventricular hypertrophy
OMIM:616833	ZNF687	57592	HP:0002758	Osteoarthritis
OMIM:209920	CIITA	4261	HP:0002383	Encephalitis
OMIM:209920	CIITA	4261	HP:0004385	Protracted diarrhea
OMIM:209920	CIITA	4261	HP:0002024	Malabsorption
OMIM:209920	CIITA	4261	HP:0011473	Villous atrophy
OMIM:209920	CIITA	4261	HP:0004432	Agammaglobulinemia
OMIM:209920	CIITA	4261	HP:0002718	Recurrent bacterial infections
OMIM:209920	CIITA	4261	HP:0001508	Failure to thrive
OMIM:209920	CIITA	4261	HP:0007041	Chronic lymphocytic meningitis
OMIM:209920	CIITA	4261	HP:0002965	Cutaneous anergy
OMIM:209920	CIITA	4261	HP:0001080	Biliary tract abnormality
OMIM:209920	CIITA	4261	HP:0002788	Recurrent upper respiratory tract infections
OMIM:209920	CIITA	4261	HP:0002783	Recurrent lower respiratory tract infections
OMIM:209920	CIITA	4261	HP:0006562	Viral hepatitis
OMIM:209920	CIITA	4261	HP:0000007	Autosomal recessive inheritance
OMIM:209920	CIITA	4261	HP:0001875	Neutropenia
OMIM:209920	CIITA	4261	HP:0004429	Recurrent viral infections
OMIM:209920	CIITA	4261	HP:0000010	Recurrent urinary tract infections
OMIM:209920	CIITA	4261	HP:0002728	Chronic mucocutaneous candidiasis
OMIM:209920	CIITA	4261	HP:0002583	Colitis
OMIM:209920	CIITA	4261	HP:0002841	Recurrent fungal infections
OMIM:209920	CIITA	4261	HP:0000006	Autosomal dominant inheritance
OMIM:209920	CIITA	4261	HP:0003139	Panhypogammaglobulinemia
OMIM:209920	CIITA	4261	HP:0005386	Recurrent protozoan infections
OMIM:615286	ADAT3	113179	HP:0000252	Microcephaly
OMIM:615286	ADAT3	113179	HP:0001249	Intellectual disability
OMIM:615286	ADAT3	113179	HP:0001508	Failure to thrive
OMIM:615286	ADAT3	113179	HP:0001290	Generalized hypotonia
OMIM:615286	ADAT3	113179	HP:0003593	Infantile onset
OMIM:615286	ADAT3	113179	HP:0000565	Esotropia
OMIM:615286	ADAT3	113179	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MYO6	4646	HP:0001751	Vestibular dysfunction
OMIM:607821	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:607821	MYO6	4646	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:607821	MYO6	4646	HP:0007642	Congenital stationary night blindness
OMIM:607821	MYO6	4646	HP:0000510	Rod-cone dystrophy
ORPHA:154	MYBPC3	4607	HP:0001874	Abnormality of neutrophils
ORPHA:154	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
ORPHA:154	MYBPC3	4607	HP:0003457	EMG abnormality
ORPHA:154	MYBPC3	4607	HP:0000407	Sensorineural hearing impairment
ORPHA:154	MYBPC3	4607	HP:0000982	Palmoplantar keratoderma
ORPHA:154	MYBPC3	4607	HP:0100578	Lipoatrophy
ORPHA:154	MYBPC3	4607	HP:0003236	Elevated serum creatine phosphokinase
ORPHA:154	MYBPC3	4607	HP:0003198	Myopathy
ORPHA:2609	NDUFV2	4729	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:214500	LYST	1130	HP:0002180	Neurodegeneration
OMIM:214500	LYST	1130	HP:0001250	Seizures
OMIM:214500	LYST	1130	HP:0005592	Giant melanosomes in melanocytes
OMIM:214500	LYST	1130	HP:0001903	Anemia
OMIM:214500	LYST	1130	HP:0001265	Hyporeflexia
OMIM:214500	LYST	1130	HP:0001249	Intellectual disability
OMIM:214500	LYST	1130	HP:0005429	Recurrent systemic pyogenic infections
OMIM:214500	LYST	1130	HP:0000639	Nystagmus
OMIM:214500	LYST	1130	HP:0001010	Hypopigmentation of the skin
OMIM:214500	LYST	1130	HP:0000505	Visual impairment
OMIM:214500	LYST	1130	HP:0001744	Splenomegaly
OMIM:214500	LYST	1130	HP:0001337	Tremor
OMIM:214500	LYST	1130	HP:0007133	Progressive peripheral neuropathy
OMIM:214500	LYST	1130	HP:0009027	Foot dorsiflexor weakness
OMIM:214500	LYST	1130	HP:0001288	Gait disturbance
OMIM:214500	LYST	1130	HP:0000007	Autosomal recessive inheritance
OMIM:214500	LYST	1130	HP:0001104	Macular hypoplasia
OMIM:214500	LYST	1130	HP:0000952	Jaundice
OMIM:214500	LYST	1130	HP:0002240	Hepatomegaly
OMIM:214500	LYST	1130	HP:0000486	Strabismus
OMIM:214500	LYST	1130	HP:0000613	Photophobia
OMIM:214500	LYST	1130	HP:0007663	Reduced visual acuity
OMIM:214500	LYST	1130	HP:0001882	Leukopenia
OMIM:214500	LYST	1130	HP:0007730	Iris hypopigmentation
OMIM:214500	LYST	1130	HP:0005406	Recurrent bacterial skin infections
OMIM:214500	LYST	1130	HP:0001873	Thrombocytopenia
OMIM:214500	LYST	1130	HP:0006824	Cranial nerve paralysis
OMIM:214500	LYST	1130	HP:0005599	Hypopigmentation of hair
OMIM:214500	LYST	1130	HP:0000230	Gingivitis
OMIM:214500	LYST	1130	HP:0002716	Lymphadenopathy
OMIM:214500	LYST	1130	HP:0000762	Decreased nerve conduction velocity
ORPHA:215	SAG	6295	HP:0007766	Optic disc hypoplasia
ORPHA:215	SAG	6295	HP:0000639	Nystagmus
ORPHA:215	SAG	6295	HP:0007663	Reduced visual acuity
ORPHA:215	SAG	6295	HP:0011003	High myopia
ORPHA:215	SAG	6295	HP:0000486	Strabismus
ORPHA:215	SAG	6295	HP:0008002	Abnormality of macular pigmentation
ORPHA:215	SAG	6295	HP:0000662	Nyctalopia
ORPHA:3051	ARID1B	57492	HP:0009928	Thick nasal alae
ORPHA:3051	ARID1B	57492	HP:0007665	Curly eyelashes
ORPHA:3051	ARID1B	57492	HP:0002381	Aphasia
ORPHA:3051	ARID1B	57492	HP:0001373	Joint dislocation
ORPHA:3051	ARID1B	57492	HP:0100760	Clubbing of toes
ORPHA:3051	ARID1B	57492	HP:0002300	Mutism
ORPHA:3051	ARID1B	57492	HP:0012745	Short palpebral fissure
ORPHA:3051	ARID1B	57492	HP:0002121	Absence seizures
ORPHA:3051	ARID1B	57492	HP:0005930	Abnormality of epiphysis morphology
ORPHA:3051	ARID1B	57492	HP:0000527	Long eyelashes
ORPHA:3051	ARID1B	57492	HP:0001328	Specific learning disability
ORPHA:3051	ARID1B	57492	HP:0000446	Narrow nasal bridge
ORPHA:3051	ARID1B	57492	HP:0100790	Hernia
ORPHA:3051	ARID1B	57492	HP:0000964	Eczema
ORPHA:3051	ARID1B	57492	HP:0001163	Abnormality of the metacarpal bones
ORPHA:3051	ARID1B	57492	HP:0000325	Triangular face
ORPHA:3051	ARID1B	57492	HP:0002750	Delayed skeletal maturation
ORPHA:3051	ARID1B	57492	HP:0000343	Long philtrum
ORPHA:3051	ARID1B	57492	HP:0003510	Severe short stature
ORPHA:3051	ARID1B	57492	HP:0004279	Short palm
ORPHA:3051	ARID1B	57492	HP:0001852	Sandal gap
ORPHA:3051	ARID1B	57492	HP:0000252	Microcephaly
ORPHA:3051	ARID1B	57492	HP:0000154	Wide mouth
ORPHA:3051	ARID1B	57492	HP:0007392	Excessive wrinkled skin
ORPHA:3051	ARID1B	57492	HP:0000463	Anteverted nares
ORPHA:3051	ARID1B	57492	HP:0010720	Abnormal hair pattern
ORPHA:3051	ARID1B	57492	HP:0000232	Everted lower lip vermilion
ORPHA:3051	ARID1B	57492	HP:0002133	Status epilepticus
ORPHA:3051	ARID1B	57492	HP:0002357	Dysphasia
ORPHA:3051	ARID1B	57492	HP:0009836	Broad distal phalanx of finger
ORPHA:3051	ARID1B	57492	HP:0000028	Cryptorchidism
ORPHA:3051	ARID1B	57492	HP:0001006	Hypotrichosis
ORPHA:3051	ARID1B	57492	HP:0006610	Wide intermamillary distance
ORPHA:3051	ARID1B	57492	HP:0001249	Intellectual disability
ORPHA:3051	ARID1B	57492	HP:0000581	Blepharophimosis
ORPHA:3051	ARID1B	57492	HP:0001156	Brachydactyly
ORPHA:3051	ARID1B	57492	HP:0011097	Epileptic spasms
ORPHA:3051	ARID1B	57492	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:3051	ARID1B	57492	HP:0002650	Scoliosis
ORPHA:3051	ARID1B	57492	HP:0001596	Alopecia
ORPHA:3051	ARID1B	57492	HP:0001263	Global developmental delay
ORPHA:3051	ARID1B	57492	HP:0002705	High, narrow palate
ORPHA:3051	ARID1B	57492	HP:0005616	Accelerated skeletal maturation
ORPHA:3051	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
ORPHA:3051	ARID1B	57492	HP:0002553	Highly arched eyebrow
ORPHA:3051	ARID1B	57492	HP:0000233	Thin vermilion border
ORPHA:3051	ARID1B	57492	HP:0000319	Smooth philtrum
ORPHA:3051	ARID1B	57492	HP:0010529	Echolalia
OMIM:252940	GNS	2799	HP:0000280	Coarse facial features
OMIM:252940	GNS	2799	HP:0001744	Splenomegaly
OMIM:252940	GNS	2799	HP:0000574	Thick eyebrow
OMIM:252940	GNS	2799	HP:0001387	Joint stiffness
OMIM:252940	GNS	2799	HP:0000365	Hearing impairment
OMIM:252940	GNS	2799	HP:0000900	Thickened ribs
OMIM:252940	GNS	2799	HP:0001007	Hirsutism
OMIM:252940	GNS	2799	HP:0003653	Cellular metachromasia
OMIM:252940	GNS	2799	HP:0000007	Autosomal recessive inheritance
OMIM:252940	GNS	2799	HP:0002307	Drooling
OMIM:252940	GNS	2799	HP:0002360	Sleep disturbance
OMIM:252940	GNS	2799	HP:0003309	Ovoid thoracolumbar vertebrae
OMIM:252940	GNS	2799	HP:0002208	Coarse hair
OMIM:252940	GNS	2799	HP:0002015	Dysphagia
OMIM:252940	GNS	2799	HP:0001344	Absent speech
OMIM:252940	GNS	2799	HP:0002788	Recurrent upper respiratory tract infections
OMIM:252940	GNS	2799	HP:0002159	Heparan sulfate excretion in urine
OMIM:252940	GNS	2799	HP:0000943	Dysostosis multiplex
OMIM:252940	GNS	2799	HP:0001507	Growth abnormality
OMIM:252940	GNS	2799	HP:0000463	Anteverted nares
OMIM:252940	GNS	2799	HP:0005280	Depressed nasal bridge
OMIM:252940	GNS	2799	HP:0002007	Frontal bossing
OMIM:252940	GNS	2799	HP:0001371	Flexion contracture
OMIM:252940	GNS	2799	HP:0001249	Intellectual disability
OMIM:252940	GNS	2799	HP:0000664	Synophrys
OMIM:252940	GNS	2799	HP:0002014	Diarrhea
OMIM:252940	GNS	2799	HP:0000470	Short neck
OMIM:252940	GNS	2799	HP:0011220	Prominent forehead
OMIM:252940	GNS	2799	HP:0000154	Wide mouth
OMIM:252940	GNS	2799	HP:0000369	Low-set ears
OMIM:252940	GNS	2799	HP:0001670	Asymmetric septal hypertrophy
OMIM:252940	GNS	2799	HP:0000752	Hyperactivity
OMIM:252940	GNS	2799	HP:0000179	Thick lower lip vermilion
OMIM:252940	GNS	2799	HP:0002240	Hepatomegaly
OMIM:252940	GNS	2799	HP:0001250	Seizures
OMIM:252940	GNS	2799	HP:0003676	Progressive
OMIM:252940	GNS	2799	HP:0001260	Dysarthria
ORPHA:93947	PQBP1	10084	HP:0000158	Macroglossia
ORPHA:93947	PQBP1	10084	HP:0011359	Dry hair
ORPHA:93947	PQBP1	10084	HP:0000286	Epicanthus
ORPHA:93947	PQBP1	10084	HP:0001250	Seizures
ORPHA:93947	PQBP1	10084	HP:0001249	Intellectual disability
ORPHA:93947	PQBP1	10084	HP:0000275	Narrow face
ORPHA:93947	PQBP1	10084	HP:0000276	Long face
ORPHA:93947	PQBP1	10084	HP:0001264	Spastic diplegia
ORPHA:93947	PQBP1	10084	HP:0002299	Brittle hair
ORPHA:93947	PQBP1	10084	HP:0000582	Upslanted palpebral fissure
ORPHA:93947	PQBP1	10084	HP:0000378	Cupped ear
ORPHA:93947	PQBP1	10084	HP:0000325	Triangular face
ORPHA:93947	PQBP1	10084	HP:0000252	Microcephaly
ORPHA:93947	PQBP1	10084	HP:0004322	Short stature
ORPHA:93947	PQBP1	10084	HP:0001631	Atrial septal defect
ORPHA:93947	PQBP1	10084	HP:0000411	Protruding ear
ORPHA:93947	PQBP1	10084	HP:0008404	Nail dystrophy
ORPHA:319600	IRF8	3394	HP:0001945	Fever
ORPHA:319600	IRF8	3394	HP:0002716	Lymphadenopathy
ORPHA:319600	IRF8	3394	HP:0010978	Abnormality of immune system physiology
OMIM:613705	SUMO1	7341	HP:0100333	Unilateral cleft lip
OMIM:613705	SUMO1	7341	HP:0100334	Unilateral cleft palate
OMIM:176270	MKRN3	7681	HP:0007513	Generalized hypopigmentation
OMIM:176270	MKRN3	7681	HP:0000268	Dolichocephaly
OMIM:176270	MKRN3	7681	HP:0003199	Decreased muscle mass
OMIM:176270	MKRN3	7681	HP:0001010	Hypopigmentation of the skin
OMIM:176270	MKRN3	7681	HP:0002236	Frontal upsweep of hair
OMIM:176270	MKRN3	7681	HP:0001385	Hip dysplasia
OMIM:176270	MKRN3	7681	HP:0000750	Delayed speech and language development
OMIM:176270	MKRN3	7681	HP:0002714	Downturned corners of mouth
OMIM:176270	MKRN3	7681	HP:0003745	Sporadic
OMIM:176270	MKRN3	7681	HP:0000992	Cutaneous photosensitivity
OMIM:176270	MKRN3	7681	HP:0000826	Precocious puberty
OMIM:176270	MKRN3	7681	HP:0005599	Hypopigmentation of hair
OMIM:176270	MKRN3	7681	HP:0000046	Scrotal hypoplasia
OMIM:176270	MKRN3	7681	HP:0009466	Radial deviation of finger
OMIM:176270	MKRN3	7681	HP:0007015	Poor gross motor coordination
OMIM:176270	MKRN3	7681	HP:0000060	Clitoral hypoplasia
OMIM:176270	MKRN3	7681	HP:0000789	Infertility
OMIM:176270	MKRN3	7681	HP:0001250	Seizures
OMIM:176270	MKRN3	7681	HP:0001328	Specific learning disability
OMIM:176270	MKRN3	7681	HP:0000219	Thin upper lip vermilion
OMIM:176270	MKRN3	7681	HP:0000054	Micropenis
OMIM:176270	MKRN3	7681	HP:0000545	Myopia
OMIM:176270	MKRN3	7681	HP:0000846	Adrenal insufficiency
OMIM:176270	MKRN3	7681	HP:0000446	Narrow nasal bridge
OMIM:176270	MKRN3	7681	HP:0000939	Osteoporosis
OMIM:176270	MKRN3	7681	HP:0001513	Obesity
OMIM:176270	MKRN3	7681	HP:0004322	Short stature
OMIM:176270	MKRN3	7681	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:176270	MKRN3	7681	HP:0000876	Oligomenorrhea
OMIM:176270	MKRN3	7681	HP:0000341	Narrow forehead
OMIM:176270	MKRN3	7681	HP:0000823	Delayed puberty
OMIM:176270	MKRN3	7681	HP:0004279	Short palm
OMIM:176270	MKRN3	7681	HP:0001773	Short foot
OMIM:176270	MKRN3	7681	HP:0200055	Small hand
OMIM:176270	MKRN3	7681	HP:0007328	Impaired pain sensation
OMIM:176270	MKRN3	7681	HP:0002205	Recurrent respiratory infections
OMIM:176270	MKRN3	7681	HP:0002033	Poor suck
OMIM:176270	MKRN3	7681	HP:0000786	Primary amenorrhea
OMIM:176270	MKRN3	7681	HP:0001159	Syndactyly
OMIM:176270	MKRN3	7681	HP:0001611	Nasal speech
OMIM:176270	MKRN3	7681	HP:0002791	Hypoventilation
OMIM:176270	MKRN3	7681	HP:0000565	Esotropia
OMIM:176270	MKRN3	7681	HP:0005968	Temperature instability
OMIM:176270	MKRN3	7681	HP:0004283	Narrow palm
OMIM:176270	MKRN3	7681	HP:0012743	Abdominal obesity
OMIM:176270	MKRN3	7681	HP:0002808	Kyphosis
OMIM:176270	MKRN3	7681	HP:0002591	Polyphagia
OMIM:176270	MKRN3	7681	HP:0030084	Clinodactyly
OMIM:176270	MKRN3	7681	HP:0000709	Psychosis
OMIM:176270	MKRN3	7681	HP:0000717	Autism
OMIM:176270	MKRN3	7681	HP:0005978	Type II diabetes mellitus
OMIM:176270	MKRN3	7681	HP:0007018	Attention deficit hyperactivity disorder
OMIM:176270	MKRN3	7681	HP:0000540	Hypermetropia
OMIM:176270	MKRN3	7681	HP:0002650	Scoliosis
OMIM:176270	MKRN3	7681	HP:0000064	Hypoplastic labia minora
OMIM:176270	MKRN3	7681	HP:0001558	Decreased fetal movement
OMIM:176270	MKRN3	7681	HP:0000582	Upslanted palpebral fissure
OMIM:176270	MKRN3	7681	HP:0000824	Growth hormone deficiency
OMIM:176270	MKRN3	7681	HP:0001290	Generalized hypotonia
OMIM:176270	MKRN3	7681	HP:0007010	Poor fine motor coordination
OMIM:176270	MKRN3	7681	HP:0007730	Iris hypopigmentation
OMIM:176270	MKRN3	7681	HP:0002119	Ventriculomegaly
OMIM:176270	MKRN3	7681	HP:0000938	Osteopenia
OMIM:176270	MKRN3	7681	HP:0001263	Global developmental delay
OMIM:176270	MKRN3	7681	HP:0010535	Sleep apnea
OMIM:176270	MKRN3	7681	HP:0000028	Cryptorchidism
OMIM:176270	MKRN3	7681	HP:0000670	Carious teeth
OMIM:176270	MKRN3	7681	HP:0000842	Hyperinsulinemia
OMIM:176270	MKRN3	7681	HP:0001270	Motor delay
OMIM:176270	MKRN3	7681	HP:0001531	Failure to thrive in infancy
OMIM:176270	MKRN3	7681	HP:0007874	Almond-shaped palpebral fissure
OMIM:607765	HSD3B7	80270	HP:0001394	Cirrhosis
OMIM:607765	HSD3B7	80270	HP:0001399	Hepatic failure
OMIM:607765	HSD3B7	80270	HP:0003146	Hypocholesterolemia
OMIM:607765	HSD3B7	80270	HP:0003623	Neonatal onset
OMIM:607765	HSD3B7	80270	HP:0003256	Abnormality of the coagulation cascade
OMIM:607765	HSD3B7	80270	HP:0011985	Acholic stools
OMIM:607765	HSD3B7	80270	HP:0001744	Splenomegaly
OMIM:607765	HSD3B7	80270	HP:0002904	Hyperbilirubinemia
OMIM:607765	HSD3B7	80270	HP:0000007	Autosomal recessive inheritance
OMIM:607765	HSD3B7	80270	HP:0000952	Jaundice
OMIM:607765	HSD3B7	80270	HP:0001508	Failure to thrive
OMIM:607765	HSD3B7	80270	HP:0002910	Elevated hepatic transaminases
OMIM:607765	HSD3B7	80270	HP:0001406	Intrahepatic cholestasis
OMIM:607765	HSD3B7	80270	HP:0200084	Giant cell hepatitis
OMIM:607765	HSD3B7	80270	HP:0002240	Hepatomegaly
OMIM:607765	HSD3B7	80270	HP:0002570	Steatorrhea
OMIM:607765	HSD3B7	80270	HP:0002014	Diarrhea
ORPHA:145	MRE11	4361	HP:0003002	Breast carcinoma
ORPHA:145	MRE11	4361	HP:0002861	Melanoma
ORPHA:145	MRE11	4361	HP:0012125	Prostate cancer
ORPHA:145	MRE11	4361	HP:0030406	Primary peritoneal carcinoma
ORPHA:145	MRE11	4361	HP:0011027	Abnormality of the fallopian tube
ORPHA:145	MRE11	4361	HP:0100615	Ovarian neoplasm
ORPHA:145	MRE11	4361	HP:0002894	Neoplasm of the pancreas
ORPHA:1377	CRYBB1	1414	HP:0000612	Iris coloboma
ORPHA:1377	CRYBB1	1414	HP:0007957	Corneal opacity
ORPHA:1377	CRYBB1	1414	HP:0001131	Corneal dystrophy
ORPHA:1377	CRYBB1	1414	HP:0000545	Myopia
ORPHA:1377	CRYBB1	1414	HP:0000518	Cataract
ORPHA:1377	CRYBB1	1414	HP:0000482	Microcornea
ORPHA:1377	CRYBB1	1414	HP:0000639	Nystagmus
ORPHA:1377	CRYGD	1421	HP:0000612	Iris coloboma
ORPHA:1377	CRYGD	1421	HP:0007957	Corneal opacity
ORPHA:1377	CRYGD	1421	HP:0001131	Corneal dystrophy
ORPHA:1377	CRYGD	1421	HP:0000545	Myopia
ORPHA:1377	CRYGD	1421	HP:0000518	Cataract
ORPHA:1377	CRYGD	1421	HP:0000482	Microcornea
ORPHA:1377	CRYGD	1421	HP:0000639	Nystagmus
OMIM:613674	SOX17	64321	HP:0000076	Vesicoureteral reflux
OMIM:613674	SOX17	64321	HP:0000126	Hydronephrosis
OMIM:613674	SOX17	64321	HP:0000006	Autosomal dominant inheritance
OMIM:613674	SOX17	64321	HP:0000072	Hydroureter
OMIM:613674	SOX17	64321	HP:0001561	Polyhydramnios
ORPHA:959	SALL4	57167	HP:0010109	Short hallux
ORPHA:959	SALL4	57167	HP:0000407	Sensorineural hearing impairment
ORPHA:959	SALL4	57167	HP:0000405	Conductive hearing impairment
ORPHA:959	SALL4	57167	HP:0000567	Chorioretinal coloboma
ORPHA:959	SALL4	57167	HP:0004712	Renal malrotation
ORPHA:959	SALL4	57167	HP:0001883	Talipes
ORPHA:959	SALL4	57167	HP:0000588	Optic nerve coloboma
ORPHA:959	SALL4	57167	HP:0001852	Sandal gap
ORPHA:959	SALL4	57167	HP:0000505	Visual impairment
ORPHA:959	SALL4	57167	HP:0000085	Horseshoe kidney
ORPHA:959	SALL4	57167	HP:0001177	Preaxial hand polydactyly
ORPHA:959	SALL4	57167	HP:0001636	Tetralogy of Fallot
ORPHA:959	SALL4	57167	HP:0000508	Ptosis
ORPHA:959	SALL4	57167	HP:0004059	Radial club hand
ORPHA:959	SALL4	57167	HP:0003022	Hypoplasia of the ulna
ORPHA:959	SALL4	57167	HP:0000486	Strabismus
ORPHA:959	SALL4	57167	HP:0002948	Vertebral fusion
ORPHA:959	SALL4	57167	HP:0008897	Postnatal growth retardation
ORPHA:959	SALL4	57167	HP:0000639	Nystagmus
ORPHA:959	SALL4	57167	HP:0000612	Iris coloboma
ORPHA:959	SALL4	57167	HP:0000518	Cataract
ORPHA:959	SALL4	57167	HP:0010059	Broad hallux phalanx
ORPHA:959	SALL4	57167	HP:0007766	Optic disc hypoplasia
ORPHA:959	SALL4	57167	HP:0008678	Renal hypoplasia/aplasia
ORPHA:959	SALL4	57167	HP:0001770	Toe syndactyly
ORPHA:959	SALL4	57167	HP:0004736	Crossed fused renal ectopia
ORPHA:959	SALL4	57167	HP:0000076	Vesicoureteral reflux
ORPHA:959	SALL4	57167	HP:0001199	Triphalangeal thumb
ORPHA:959	SALL4	57167	HP:0005792	Short humerus
ORPHA:959	SALL4	57167	HP:0000015	Bladder diverticulum
ORPHA:959	SALL4	57167	HP:0000316	Hypertelorism
ORPHA:959	SALL4	57167	HP:0000568	Microphthalmia
ORPHA:959	SALL4	57167	HP:0000482	Microcornea
ORPHA:959	SALL4	57167	HP:0002251	Aganglionic megacolon
ORPHA:959	SALL4	57167	HP:0006101	Finger syndactyly
ORPHA:959	SALL4	57167	HP:0009650	Short distal phalanx of the thumb
ORPHA:959	SALL4	57167	HP:0000286	Epicanthus
ORPHA:959	SALL4	57167	HP:0012745	Short palpebral fissure
OMIM:605013	NDE1	54820	HP:0000400	Macrotia
OMIM:605013	NDE1	54820	HP:0006887	Intellectual disability, progressive
OMIM:605013	NDE1	54820	HP:0000742	Self-mutilation
OMIM:605013	NDE1	54820	HP:0001263	Global developmental delay
OMIM:605013	NDE1	54820	HP:0002510	Spastic tetraplegia
OMIM:605013	NDE1	54820	HP:0001321	Cerebellar hypoplasia
OMIM:605013	NDE1	54820	HP:0002119	Ventriculomegaly
OMIM:605013	NDE1	54820	HP:0001347	Hyperreflexia
OMIM:605013	NDE1	54820	HP:0003202	Skeletal muscle atrophy
OMIM:605013	NDE1	54820	HP:0012736	Profound global developmental delay
OMIM:605013	NDE1	54820	HP:0002123	Generalized myoclonic seizures
OMIM:605013	NDE1	54820	HP:0000252	Microcephaly
OMIM:605013	NDE1	54820	HP:0000340	Sloping forehead
OMIM:605013	NDE1	54820	HP:0001274	Agenesis of corpus callosum
OMIM:605013	NDE1	54820	HP:0000007	Autosomal recessive inheritance
OMIM:605013	NDE1	54820	HP:0002828	Multiple joint contractures
OMIM:605013	NDE1	54820	HP:0002305	Athetosis
OMIM:605013	NDE1	54820	HP:0002365	Hypoplasia of the brainstem
OMIM:605013	NDE1	54820	HP:0010864	Intellectual disability, severe
OMIM:605013	NDE1	54820	HP:0000426	Prominent nasal bridge
OMIM:605013	NDE1	54820	HP:0001302	Pachygyria
OMIM:605013	NDE1	54820	HP:0001762	Talipes equinovarus
OMIM:605013	NDE1	54820	HP:0002324	Hydranencephaly
OMIM:605013	NDE1	54820	HP:0000520	Proptosis
OMIM:605013	NDE1	54820	HP:0004322	Short stature
OMIM:616803	SOX5	6660	HP:0000750	Delayed speech and language development
OMIM:616803	SOX5	6660	HP:0000414	Bulbous nose
OMIM:616803	SOX5	6660	HP:0005280	Depressed nasal bridge
OMIM:616803	SOX5	6660	HP:0030084	Clinodactyly
OMIM:616803	SOX5	6660	HP:0001263	Global developmental delay
OMIM:616803	SOX5	6660	HP:0000006	Autosomal dominant inheritance
OMIM:616803	SOX5	6660	HP:0000324	Facial asymmetry
OMIM:616803	SOX5	6660	HP:0000369	Low-set ears
OMIM:616803	SOX5	6660	HP:0000431	Wide nasal bridge
OMIM:616803	SOX5	6660	HP:0003812	Phenotypic variability
OMIM:616803	SOX5	6660	HP:0000678	Dental crowding
OMIM:616803	SOX5	6660	HP:0000486	Strabismus
OMIM:616803	SOX5	6660	HP:0001845	Overlapping toe
OMIM:616803	SOX5	6660	HP:0002650	Scoliosis
OMIM:616803	SOX5	6660	HP:0000545	Myopia
OMIM:616803	SOX5	6660	HP:0100807	Long fingers
OMIM:616803	SOX5	6660	HP:0002007	Frontal bossing
OMIM:616803	SOX5	6660	HP:0000739	Anxiety
OMIM:616803	SOX5	6660	HP:0000358	Posteriorly rotated ears
OMIM:616803	SOX5	6660	HP:0001847	Long hallux
OMIM:616803	SOX5	6660	HP:0000194	Open mouth
OMIM:616803	SOX5	6660	HP:0000494	Downslanted palpebral fissures
OMIM:616803	SOX5	6660	HP:0001249	Intellectual disability
OMIM:616803	SOX5	6660	HP:0000286	Epicanthus
OMIM:616803	SOX5	6660	HP:0001290	Generalized hypotonia
OMIM:616803	SOX5	6660	HP:0000648	Optic atrophy
OMIM:616803	SOX5	6660	HP:0000768	Pectus carinatum
OMIM:616803	SOX5	6660	HP:0008428	Vertebral clefting
OMIM:616803	SOX5	6660	HP:0001763	Pes planus
OMIM:611493	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:611493	KCNE2	9992	HP:0005110	Atrial fibrillation
ORPHA:2554	CDC45	8318	HP:0000176	Submucous cleft hard palate
ORPHA:2554	CDC45	8318	HP:0000059	Hypoplastic labia majora
ORPHA:2554	CDC45	8318	HP:0000772	Abnormality of the ribs
ORPHA:2554	CDC45	8318	HP:0001249	Intellectual disability
ORPHA:2554	CDC45	8318	HP:0000365	Hearing impairment
ORPHA:2554	CDC45	8318	HP:0000060	Clitoral hypoplasia
ORPHA:2554	CDC45	8318	HP:0000252	Microcephaly
ORPHA:2554	CDC45	8318	HP:0011968	Feeding difficulties
ORPHA:2554	CDC45	8318	HP:0001508	Failure to thrive
ORPHA:2554	CDC45	8318	HP:0001511	Intrauterine growth retardation
ORPHA:2554	CDC45	8318	HP:0003100	Slender long bone
ORPHA:2554	CDC45	8318	HP:0002878	Respiratory failure
ORPHA:2554	CDC45	8318	HP:0006660	Aplastic clavicles
ORPHA:2554	CDC45	8318	HP:0000327	Hypoplasia of the maxilla
ORPHA:2554	CDC45	8318	HP:0000358	Posteriorly rotated ears
ORPHA:2554	CDC45	8318	HP:0005692	Joint hyperflexibility
ORPHA:2554	CDC45	8318	HP:0003510	Severe short stature
ORPHA:2554	CDC45	8318	HP:0000193	Bifid uvula
ORPHA:2554	CDC45	8318	HP:0005930	Abnormality of epiphysis morphology
ORPHA:2554	CDC45	8318	HP:0000369	Low-set ears
ORPHA:2554	CDC45	8318	HP:0003042	Elbow dislocation
ORPHA:2554	CDC45	8318	HP:0008665	Clitoral hypertrophy
ORPHA:2554	CDC45	8318	HP:0000347	Micrognathia
ORPHA:2554	CDC45	8318	HP:0000413	Atresia of the external auditory canal
ORPHA:2554	CDC45	8318	HP:0002098	Respiratory distress
ORPHA:2554	CDC45	8318	HP:0006443	Patellar aplasia
ORPHA:2554	CDC45	8318	HP:0001363	Craniosynostosis
ORPHA:2554	CDC45	8318	HP:0004209	Clinodactyly of the 5th finger
ORPHA:2554	CDC45	8318	HP:0000064	Hypoplastic labia minora
ORPHA:2554	CDC45	8318	HP:0002750	Delayed skeletal maturation
ORPHA:2554	CDC45	8318	HP:0000039	Epispadias
ORPHA:2554	CDC45	8318	HP:0000278	Retrognathia
ORPHA:2554	CDC45	8318	HP:0008736	Hypoplasia of penis
ORPHA:2554	CDC45	8318	HP:0001328	Specific learning disability
ORPHA:2554	CDC45	8318	HP:0000160	Narrow mouth
ORPHA:2554	CDC45	8318	HP:0001263	Global developmental delay
ORPHA:2554	CDC45	8318	HP:0000028	Cryptorchidism
ORPHA:2554	CDC45	8318	HP:0100783	Breast aplasia
ORPHA:2554	CDC45	8318	HP:0009892	Anotia
ORPHA:2554	CDC45	8318	HP:0100490	Camptodactyly of finger
ORPHA:2554	CDC45	8318	HP:0002705	High, narrow palate
ORPHA:2554	CDC45	8318	HP:0009939	Mandibular aplasia
ORPHA:2554	CDC45	8318	HP:0000047	Hypospadias
ORPHA:2554	CDC45	8318	HP:0011267	Microtia, third degree
ORPHA:2554	CDC45	8318	HP:0012471	Thick vermilion border
ORPHA:352530	TRAPPC9	83696	HP:0001182	Tapered finger
ORPHA:352530	TRAPPC9	83696	HP:0009891	Underdeveloped supraorbital ridges
ORPHA:352530	TRAPPC9	83696	HP:0000431	Wide nasal bridge
ORPHA:352530	TRAPPC9	83696	HP:0000851	Congenital hypothyroidism
ORPHA:352530	TRAPPC9	83696	HP:0000219	Thin upper lip vermilion
ORPHA:352530	TRAPPC9	83696	HP:0007642	Congenital stationary night blindness
ORPHA:352530	TRAPPC9	83696	HP:0002714	Downturned corners of mouth
ORPHA:352530	TRAPPC9	83696	HP:0004209	Clinodactyly of the 5th finger
ORPHA:352530	TRAPPC9	83696	HP:0001252	Muscular hypotonia
ORPHA:352530	TRAPPC9	83696	HP:0000252	Microcephaly
ORPHA:352530	TRAPPC9	83696	HP:0000286	Epicanthus
ORPHA:352530	TRAPPC9	83696	HP:0001321	Cerebellar hypoplasia
ORPHA:352530	TRAPPC9	83696	HP:0002265	Large fleshy ears
ORPHA:352530	TRAPPC9	83696	HP:0010864	Intellectual disability, severe
ORPHA:352530	TRAPPC9	83696	HP:0000248	Brachycephaly
ORPHA:352530	TRAPPC9	83696	HP:0000664	Synophrys
ORPHA:352530	TRAPPC9	83696	HP:0002120	Cerebral cortical atrophy
ORPHA:352530	TRAPPC9	83696	HP:0002047	Malignant hyperthermia
ORPHA:352530	TRAPPC9	83696	HP:0001263	Global developmental delay
ORPHA:352530	TRAPPC9	83696	HP:0002123	Generalized myoclonic seizures
ORPHA:352530	TRAPPC9	83696	HP:0000311	Round face
ORPHA:352530	TRAPPC9	83696	HP:0002079	Hypoplasia of the corpus callosum
ORPHA:352530	TRAPPC9	83696	HP:0000341	Narrow forehead
ORPHA:352530	TRAPPC9	83696	HP:0000316	Hypertelorism
ORPHA:352530	TRAPPC9	83696	HP:0011228	Horizontal eyebrow
ORPHA:352530	TRAPPC9	83696	HP:0001513	Obesity
ORPHA:352530	TRAPPC9	83696	HP:0007052	Multifocal cerebral white matter abnormalities
OMIM:611544	CRYBB1	1414	HP:0010693	Pulverulent cataract
OMIM:611544	CRYBB1	1414	HP:0000639	Nystagmus
OMIM:611544	CRYBB1	1414	HP:0000482	Microcornea
OMIM:611544	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:611544	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:611544	CRYBB1	1414	HP:0100018	Nuclear cataract
OMIM:611544	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:611544	CRYBB1	1414	HP:0000646	Amblyopia
OMIM:602099	SPG11	80208	HP:0001260	Dysarthria
OMIM:602099	SPG11	80208	HP:0002483	Bulbar signs
OMIM:602099	SPG11	80208	HP:0002366	Abnormal lower motor neuron morphology
OMIM:602099	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:602099	SPG11	80208	HP:0003693	Distal amyotrophy
OMIM:602099	SPG11	80208	HP:0001257	Spasticity
OMIM:602099	SPG11	80208	HP:0002380	Fasciculations
OMIM:602099	SPG11	80208	HP:0003677	Slow progression
OMIM:602099	SPG11	80208	HP:0002460	Distal muscle weakness
OMIM:602099	SPG11	80208	HP:0007354	Amyotrophic lateral sclerosis
OMIM:602099	SPG11	80208	HP:0003487	Babinski sign
OMIM:602099	SPG11	80208	HP:0003621	Juvenile onset
OMIM:602099	SPG11	80208	HP:0001347	Hyperreflexia
OMIM:602099	SPG11	80208	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:221200	SLITRK6	84189	HP:0000405	Conductive hearing impairment
OMIM:221200	SLITRK6	84189	HP:0000545	Myopia
OMIM:221200	SLITRK6	84189	HP:0000790	Hematuria
OMIM:221200	SLITRK6	84189	HP:0001249	Intellectual disability
OMIM:221200	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:221200	SLITRK6	84189	HP:0011003	High myopia
OMIM:221200	SLITRK6	84189	HP:0000093	Proteinuria
ORPHA:2307	SALL4	57167	HP:0002650	Scoliosis
ORPHA:2307	SALL4	57167	HP:0001199	Triphalangeal thumb
ORPHA:2307	SALL4	57167	HP:0007477	Abnormal dermatoglyphics
ORPHA:2307	SALL4	57167	HP:0005048	Synostosis of carpal bones
ORPHA:2307	SALL4	57167	HP:0003510	Severe short stature
ORPHA:2307	SALL4	57167	HP:0009778	Short thumb
ORPHA:2307	SALL4	57167	HP:0001177	Preaxial hand polydactyly
ORPHA:2307	SALL4	57167	HP:0011675	Arrhythmia
ORPHA:2307	SALL4	57167	HP:0001387	Joint stiffness
ORPHA:2307	SALL4	57167	HP:0002974	Radioulnar synostosis
ORPHA:2307	SALL4	57167	HP:0000143	Rectovaginal fistula
ORPHA:2307	SALL4	57167	HP:0000486	Strabismus
ORPHA:2307	SALL4	57167	HP:0001974	Leukocytosis
ORPHA:2307	SALL4	57167	HP:0001873	Thrombocytopenia
ORPHA:2307	SALL4	57167	HP:0002023	Anal atresia
ORPHA:2307	SALL4	57167	HP:0006660	Aplastic clavicles
ORPHA:2307	SALL4	57167	HP:0002984	Hypoplasia of the radius
ORPHA:2307	SALL4	57167	HP:0000365	Hearing impairment
ORPHA:3237	FGF9	2254	HP:0010579	Cone-shaped epiphysis
ORPHA:3237	FGF9	2254	HP:0001387	Joint stiffness
ORPHA:3237	FGF9	2254	HP:0007598	Bilateral single transverse palmar creases
ORPHA:3237	FGF9	2254	HP:0009773	Symphalangism affecting the phalanges of the hand
ORPHA:3237	FGF9	2254	HP:0000405	Conductive hearing impairment
ORPHA:3237	FGF9	2254	HP:0000324	Facial asymmetry
ORPHA:3237	FGF9	2254	HP:0004279	Short palm
ORPHA:3237	FGF9	2254	HP:0011304	Broad thumb
ORPHA:3237	FGF9	2254	HP:0001156	Brachydactyly
ORPHA:3237	FGF9	2254	HP:0001597	Abnormality of the nail
OMIM:616367	EDNRA	1909	HP:0000405	Conductive hearing impairment
OMIM:616367	EDNRA	1909	HP:0000232	Everted lower lip vermilion
OMIM:616367	EDNRA	1909	HP:0000324	Facial asymmetry
OMIM:616367	EDNRA	1909	HP:0001647	Bicuspid aortic valve
OMIM:616367	EDNRA	1909	HP:0000378	Cupped ear
OMIM:616367	EDNRA	1909	HP:0000402	Stenosis of the external auditory canal
OMIM:616367	EDNRA	1909	HP:0000327	Hypoplasia of the maxilla
OMIM:616367	EDNRA	1909	HP:0000384	Preauricular skin tag
OMIM:616367	EDNRA	1909	HP:0004467	Preauricular pit
OMIM:616367	EDNRA	1909	HP:0000369	Low-set ears
OMIM:616367	EDNRA	1909	HP:0000431	Wide nasal bridge
OMIM:616367	EDNRA	1909	HP:0000652	Lower eyelid coloboma
OMIM:616367	EDNRA	1909	HP:0005321	Mandibulofacial dysostosis
OMIM:616367	EDNRA	1909	HP:0000162	Glossoptosis
OMIM:616367	EDNRA	1909	HP:0000175	Cleft palate
OMIM:616367	EDNRA	1909	HP:0000411	Protruding ear
OMIM:616367	EDNRA	1909	HP:0000211	Trismus
OMIM:616367	EDNRA	1909	HP:0000653	Sparse eyelashes
OMIM:616367	EDNRA	1909	HP:0000678	Dental crowding
OMIM:616367	EDNRA	1909	HP:0000006	Autosomal dominant inheritance
OMIM:616367	EDNRA	1909	HP:0000535	Sparse and thin eyebrow
OMIM:616367	EDNRA	1909	HP:0000680	Delayed eruption of primary teeth
OMIM:616367	EDNRA	1909	HP:0000072	Hydroureter
OMIM:616367	EDNRA	1909	HP:0000347	Micrognathia
ORPHA:402075	SMAD6	4091	HP:0000822	Hypertension
ORPHA:402075	SMAD6	4091	HP:0004933	Ascending aortic dissection
ORPHA:402075	SMAD6	4091	HP:0001650	Aortic valve stenosis
ORPHA:402075	SMAD6	4091	HP:0004380	Aortic valve calcification
ORPHA:402075	SMAD6	4091	HP:0001647	Bicuspid aortic valve
ORPHA:402075	SMAD6	4091	HP:0011103	Abnormality of the left ventricular outflow tract
ORPHA:402075	SMAD6	4091	HP:0030148	Heart murmur
ORPHA:402075	SMAD6	4091	HP:0001680	Coarctation of aorta
ORPHA:402075	SMAD6	4091	HP:0005113	Aortic arch aneurysm
ORPHA:402075	SMAD6	4091	HP:0001659	Aortic regurgitation
ORPHA:402075	SMAD6	4091	HP:0004383	Hypoplastic left heart
ORPHA:402075	SMAD6	4091	HP:0004962	Thoracic aorta calcification
OMIM:148600	AAGAB	79719	HP:0000951	Abnormality of the skin
OMIM:148600	AAGAB	79719	HP:0000006	Autosomal dominant inheritance
OMIM:148600	AAGAB	79719	HP:0003584	Late onset
OMIM:148600	AAGAB	79719	HP:0001425	Heterogeneous
OMIM:203300	HPS1	3257	HP:0002091	Restrictive ventilatory defect
OMIM:203300	HPS1	3257	HP:0000225	Gingival bleeding
OMIM:203300	HPS1	3257	HP:0003010	Prolonged bleeding time
OMIM:203300	HPS1	3257	HP:0007603	Freckles in sun-exposed areas
OMIM:203300	HPS1	3257	HP:0000083	Renal insufficiency
OMIM:203300	HPS1	3257	HP:0001107	Ocular albinism
OMIM:203300	HPS1	3257	HP:0000978	Bruising susceptibility
OMIM:203300	HPS1	3257	HP:0001595	Abnormality of the hair
OMIM:203300	HPS1	3257	HP:0001141	Severe visual impairment
OMIM:203300	HPS1	3257	HP:0002027	Abdominal pain
OMIM:203300	HPS1	3257	HP:0002573	Hematochezia
OMIM:203300	HPS1	3257	HP:0002037	Inflammation of the large intestine
OMIM:203300	HPS1	3257	HP:0001425	Heterogeneous
OMIM:203300	HPS1	3257	HP:0001022	Albinism
OMIM:203300	HPS1	3257	HP:0000639	Nystagmus
OMIM:203300	HPS1	3257	HP:0001638	Cardiomyopathy
OMIM:203300	HPS1	3257	HP:0001480	Freckling
OMIM:203300	HPS1	3257	HP:0000995	Melanocytic nevus
OMIM:203300	HPS1	3257	HP:0000007	Autosomal recessive inheritance
OMIM:203300	HPS1	3257	HP:0000421	Epistaxis
OMIM:203300	HPS1	3257	HP:0002206	Pulmonary fibrosis
ORPHA:1195	TF	7018	HP:0001903	Anemia
ORPHA:1195	TF	7018	HP:0000821	Hypothyroidism
ORPHA:1195	TF	7018	HP:0001732	Abnormality of the pancreas
ORPHA:1195	TF	7018	HP:0001369	Arthritis
ORPHA:1195	TF	7018	HP:0002719	Recurrent infections
ORPHA:1195	TF	7018	HP:0001626	Abnormality of the cardiovascular system
OMIM:271640	B3GALT6	126792	HP:0003100	Slender long bone
OMIM:271640	B3GALT6	126792	HP:0001647	Bicuspid aortic valve
OMIM:271640	B3GALT6	126792	HP:0009702	Carpal synostosis
OMIM:271640	B3GALT6	126792	HP:0000974	Hyperextensible skin
OMIM:271640	B3GALT6	126792	HP:0010550	Paraplegia
OMIM:271640	B3GALT6	126792	HP:0000926	Platyspondyly
OMIM:271640	B3GALT6	126792	HP:0002751	Kyphoscoliosis
OMIM:271640	B3GALT6	126792	HP:0000939	Osteoporosis
OMIM:271640	B3GALT6	126792	HP:0004325	Decreased body weight
OMIM:271640	B3GALT6	126792	HP:0001290	Generalized hypotonia
OMIM:271640	B3GALT6	126792	HP:0002756	Pathologic fracture
OMIM:271640	B3GALT6	126792	HP:0001030	Fragile skin
OMIM:271640	B3GALT6	126792	HP:0003048	Radial head subluxation
OMIM:271640	B3GALT6	126792	HP:0002176	Spinal cord compression
OMIM:271640	B3GALT6	126792	HP:0000343	Long philtrum
OMIM:271640	B3GALT6	126792	HP:0000470	Short neck
OMIM:271640	B3GALT6	126792	HP:0001763	Pes planus
OMIM:271640	B3GALT6	126792	HP:0001822	Hallux valgus
OMIM:271640	B3GALT6	126792	HP:0002209	Sparse scalp hair
OMIM:271640	B3GALT6	126792	HP:0001631	Atrial septal defect
OMIM:271640	B3GALT6	126792	HP:0000218	High palate
OMIM:271640	B3GALT6	126792	HP:0008824	Hypoplastic iliac body
OMIM:271640	B3GALT6	126792	HP:0003083	Dislocated radial head
OMIM:271640	B3GALT6	126792	HP:0011220	Prominent forehead
OMIM:271640	B3GALT6	126792	HP:0002827	Hip dislocation
OMIM:271640	B3GALT6	126792	HP:0001629	Ventricular septal defect
OMIM:271640	B3GALT6	126792	HP:0000175	Cleft palate
OMIM:271640	B3GALT6	126792	HP:0003300	Ovoid vertebral bodies
OMIM:271640	B3GALT6	126792	HP:0000300	Oval face
OMIM:271640	B3GALT6	126792	HP:0003510	Severe short stature
OMIM:271640	B3GALT6	126792	HP:0002869	Flared iliac wings
OMIM:271640	B3GALT6	126792	HP:0001653	Mitral regurgitation
OMIM:271640	B3GALT6	126792	HP:0008818	Large iliac wings
OMIM:271640	B3GALT6	126792	HP:0008828	Delayed proximal femoral epiphyseal ossification
OMIM:271640	B3GALT6	126792	HP:0000904	Flaring of rib cage
OMIM:271640	B3GALT6	126792	HP:0000592	Blue sclerae
OMIM:271640	B3GALT6	126792	HP:0000887	Cupped ribs
OMIM:271640	B3GALT6	126792	HP:0002857	Genu valgum
OMIM:271640	B3GALT6	126792	HP:0008012	Congenital myopia
OMIM:271640	B3GALT6	126792	HP:0000520	Proptosis
OMIM:271640	B3GALT6	126792	HP:0000007	Autosomal recessive inheritance
OMIM:271640	B3GALT6	126792	HP:0009836	Broad distal phalanx of finger
OMIM:271640	B3GALT6	126792	HP:0000347	Micrognathia
OMIM:271640	B3GALT6	126792	HP:0001371	Flexion contracture
OMIM:271640	B3GALT6	126792	HP:0100864	Short femoral neck
OMIM:271640	B3GALT6	126792	HP:0001840	Metatarsus adductus
OMIM:271640	B3GALT6	126792	HP:0000272	Malar flattening
OMIM:271640	B3GALT6	126792	HP:0011800	Midface retrusion
OMIM:271640	B3GALT6	126792	HP:0030043	Hip subluxation
OMIM:271640	B3GALT6	126792	HP:0002986	Radial bowing
OMIM:271640	B3GALT6	126792	HP:0003015	Flared metaphysis
OMIM:271640	B3GALT6	126792	HP:0004233	Advanced ossification of carpal bones
OMIM:271640	B3GALT6	126792	HP:0012368	Flat face
OMIM:271640	B3GALT6	126792	HP:0000878	11 pairs of ribs
OMIM:271640	B3GALT6	126792	HP:0001027	Soft, doughy skin
OMIM:271640	B3GALT6	126792	HP:0001762	Talipes equinovarus
OMIM:271640	B3GALT6	126792	HP:0010049	Short metacarpal
OMIM:271640	B3GALT6	126792	HP:0001799	Short nail
OMIM:271640	B3GALT6	126792	HP:0002673	Coxa valga
OMIM:271640	B3GALT6	126792	HP:0003301	Irregular vertebral endplates
OMIM:271640	B3GALT6	126792	HP:0002651	Spondyloepimetaphyseal dysplasia
OMIM:271640	B3GALT6	126792	HP:0011341	Long upper lip
OMIM:271640	B3GALT6	126792	HP:0001083	Ectopia lentis
OMIM:271640	B3GALT6	126792	HP:0001388	Joint laxity
OMIM:271640	B3GALT6	126792	HP:0003026	Short long bone
ORPHA:79323	MPDU1	9526	HP:0000504	Abnormality of vision
ORPHA:79323	MPDU1	9526	HP:0100543	Cognitive impairment
ORPHA:79323	MPDU1	9526	HP:0001250	Seizures
ORPHA:79323	MPDU1	9526	HP:0001252	Muscular hypotonia
ORPHA:258	LAMA2	3908	HP:0030234	Highly elevated creatine phosphokinase
ORPHA:258	LAMA2	3908	HP:0100543	Cognitive impairment
ORPHA:258	LAMA2	3908	HP:0002791	Hypoventilation
ORPHA:258	LAMA2	3908	HP:0002181	Cerebral edema
ORPHA:258	LAMA2	3908	HP:0002650	Scoliosis
ORPHA:258	LAMA2	3908	HP:0002783	Recurrent lower respiratory tract infections
ORPHA:258	LAMA2	3908	HP:0010808	Protruding tongue
ORPHA:258	LAMA2	3908	HP:0000649	Abnormality of visual evoked potentials
ORPHA:258	LAMA2	3908	HP:0001302	Pachygyria
ORPHA:258	LAMA2	3908	HP:0004878	Intercostal muscle weakness
ORPHA:258	LAMA2	3908	HP:0010628	Facial palsy
ORPHA:258	LAMA2	3908	HP:0001371	Flexion contracture
ORPHA:258	LAMA2	3908	HP:0002446	Astrocytosis
ORPHA:258	LAMA2	3908	HP:0003741	Congenital muscular dystrophy
ORPHA:258	LAMA2	3908	HP:0100614	Myositis
ORPHA:258	LAMA2	3908	HP:0007359	Focal seizures
ORPHA:258	LAMA2	3908	HP:0002375	Hypokinesia
ORPHA:258	LAMA2	3908	HP:0010754	Abnormality of the temporomandibular joint
ORPHA:258	LAMA2	3908	HP:0009025	Increased connective tissue
ORPHA:258	LAMA2	3908	HP:0002092	Pulmonary arterial hypertension
ORPHA:258	LAMA2	3908	HP:0002121	Absence seizures
ORPHA:258	LAMA2	3908	HP:0007141	Sensorimotor neuropathy
ORPHA:258	LAMA2	3908	HP:0011675	Arrhythmia
ORPHA:258	LAMA2	3908	HP:0004325	Decreased body weight
ORPHA:258	LAMA2	3908	HP:0001249	Intellectual disability
ORPHA:258	LAMA2	3908	HP:0005216	Chewing difficulties
ORPHA:258	LAMA2	3908	HP:0000158	Macroglossia
ORPHA:258	LAMA2	3908	HP:0002540	Inability to walk
ORPHA:258	LAMA2	3908	HP:0000194	Open mouth
ORPHA:258	LAMA2	3908	HP:0002020	Gastroesophageal reflux
ORPHA:258	LAMA2	3908	HP:0001612	Weak cry
ORPHA:258	LAMA2	3908	HP:0002878	Respiratory failure
ORPHA:258	LAMA2	3908	HP:0100750	Atelectasis
ORPHA:258	LAMA2	3908	HP:0003307	Hyperlordosis
ORPHA:258	LAMA2	3908	HP:0001319	Neonatal hypotonia
ORPHA:258	LAMA2	3908	HP:0001339	Lissencephaly
ORPHA:258	LAMA2	3908	HP:0001638	Cardiomyopathy
ORPHA:258	LAMA2	3908	HP:0002058	Myopathic facies
ORPHA:258	LAMA2	3908	HP:0012664	Reduced ejection fraction
ORPHA:258	LAMA2	3908	HP:0012747	Abnormal brainstem MRI signal intensity
ORPHA:258	LAMA2	3908	HP:0100295	Muscle fiber atrophy
ORPHA:258	LAMA2	3908	HP:0002835	Aspiration
ORPHA:258	LAMA2	3908	HP:0001270	Motor delay
ORPHA:258	LAMA2	3908	HP:0006879	Pontocerebellar atrophy
OMIM:617063	CDC45	8318	HP:0004691	2-3 toe syndactyly
OMIM:617063	CDC45	8318	HP:0004442	Sagittal craniosynostosis
OMIM:617063	CDC45	8318	HP:0000160	Narrow mouth
OMIM:617063	CDC45	8318	HP:0002023	Anal atresia
OMIM:617063	CDC45	8318	HP:0002650	Scoliosis
OMIM:617063	CDC45	8318	HP:0000365	Hearing impairment
OMIM:617063	CDC45	8318	HP:0001629	Ventricular septal defect
OMIM:617063	CDC45	8318	HP:0004322	Short stature
OMIM:617063	CDC45	8318	HP:0000253	Progressive microcephaly
OMIM:617063	CDC45	8318	HP:0000054	Micropenis
OMIM:617063	CDC45	8318	HP:0002089	Pulmonary hypoplasia
OMIM:617063	CDC45	8318	HP:0001388	Joint laxity
OMIM:617063	CDC45	8318	HP:0000047	Hypospadias
OMIM:617063	CDC45	8318	HP:0000520	Proptosis
OMIM:617063	CDC45	8318	HP:0006498	Aplasia/Hypoplasia of the patella
OMIM:617063	CDC45	8318	HP:0007099	Arnold-Chiari type I malformation
OMIM:617063	CDC45	8318	HP:0100258	Preaxial polydactyly
OMIM:617063	CDC45	8318	HP:0000076	Vesicoureteral reflux
OMIM:617063	CDC45	8318	HP:0001217	Clubbing
OMIM:617063	CDC45	8318	HP:0000486	Strabismus
OMIM:617063	CDC45	8318	HP:0008665	Clitoral hypertrophy
OMIM:617063	CDC45	8318	HP:0001631	Atrial septal defect
OMIM:617063	CDC45	8318	HP:0000007	Autosomal recessive inheritance
OMIM:617063	CDC45	8318	HP:0001674	Complete atrioventricular canal defect
OMIM:617063	CDC45	8318	HP:0000453	Choanal atresia
OMIM:617063	CDC45	8318	HP:0000260	Wide anterior fontanel
OMIM:617063	CDC45	8318	HP:0001263	Global developmental delay
OMIM:617063	CDC45	8318	HP:0045074	Thin eyebrow
OMIM:617063	CDC45	8318	HP:0002025	Anal stenosis
OMIM:617063	CDC45	8318	HP:0012227	Urethral stricture
OMIM:617063	CDC45	8318	HP:0008551	Microtia
OMIM:617063	CDC45	8318	HP:0004325	Decreased body weight
OMIM:617063	CDC45	8318	HP:0000028	Cryptorchidism
OMIM:617063	CDC45	8318	HP:0000218	High palate
OMIM:617063	CDC45	8318	HP:0002979	Bowing of the legs
OMIM:617063	CDC45	8318	HP:0000175	Cleft palate
OMIM:617063	CDC45	8318	HP:0100867	Duodenal stenosis
OMIM:617063	CDC45	8318	HP:0000545	Myopia
ORPHA:99798	SUMO1	7341	HP:0000347	Micrognathia
ORPHA:99798	SUMO1	7341	HP:0000691	Microdontia
ORPHA:99798	SUMO1	7341	HP:0000677	Oligodontia
ORPHA:99798	SUMO1	7341	HP:0000327	Hypoplasia of the maxilla
ORPHA:79301	HSD3B7	80270	HP:0001394	Cirrhosis
ORPHA:79301	HSD3B7	80270	HP:0002240	Hepatomegaly
ORPHA:79301	HSD3B7	80270	HP:0002910	Elevated hepatic transaminases
ORPHA:79301	HSD3B7	80270	HP:0000662	Nyctalopia
ORPHA:79301	HSD3B7	80270	HP:0001080	Biliary tract abnormality
ORPHA:79301	HSD3B7	80270	HP:0002239	Gastrointestinal hemorrhage
ORPHA:79301	HSD3B7	80270	HP:0009830	Peripheral neuropathy
ORPHA:79301	HSD3B7	80270	HP:0000952	Jaundice
ORPHA:79301	HSD3B7	80270	HP:0002024	Malabsorption
ORPHA:79301	HSD3B7	80270	HP:0000939	Osteoporosis
ORPHA:79301	HSD3B7	80270	HP:0001744	Splenomegaly
ORPHA:79301	HSD3B7	80270	HP:0001928	Abnormality of coagulation
ORPHA:79301	HSD3B7	80270	HP:0001508	Failure to thrive
ORPHA:79301	HSD3B7	80270	HP:0006566	Neonatal cholestatic liver disease
ORPHA:79301	HSD3B7	80270	HP:0000989	Pruritus
ORPHA:562	GNAS	2778	HP:0004349	Reduced bone mineral density
ORPHA:562	GNAS	2778	HP:0100031	Neoplasm of the thyroid gland
ORPHA:562	GNAS	2778	HP:0010807	Open bite
ORPHA:562	GNAS	2778	HP:0000682	Abnormality of dental enamel
ORPHA:562	GNAS	2778	HP:0100013	Neoplasm of the breast
ORPHA:562	GNAS	2778	HP:0000843	Hyperparathyroidism
ORPHA:562	GNAS	2778	HP:0002910	Elevated hepatic transaminases
ORPHA:562	GNAS	2778	HP:0000040	Long penis
ORPHA:562	GNAS	2778	HP:0002652	Skeletal dysplasia
ORPHA:562	GNAS	2778	HP:0000053	Macroorchidism
ORPHA:562	GNAS	2778	HP:0000256	Macrocephaly
ORPHA:562	GNAS	2778	HP:0002808	Kyphosis
ORPHA:562	GNAS	2778	HP:0007440	Generalized hyperpigmentation
ORPHA:562	GNAS	2778	HP:0007565	Multiple cafe-au-lait spots
ORPHA:562	GNAS	2778	HP:0000098	Tall stature
ORPHA:562	GNAS	2778	HP:0002653	Bone pain
ORPHA:562	GNAS	2778	HP:0010788	Testicular neoplasm
ORPHA:562	GNAS	2778	HP:0000174	Abnormality of the palate
ORPHA:562	GNAS	2778	HP:0000303	Mandibular prognathia
ORPHA:562	GNAS	2778	HP:0000504	Abnormality of vision
ORPHA:562	GNAS	2778	HP:0000836	Hyperthyroidism
ORPHA:562	GNAS	2778	HP:0000826	Precocious puberty
ORPHA:562	GNAS	2778	HP:0003010	Prolonged bleeding time
ORPHA:562	GNAS	2778	HP:0000670	Carious teeth
ORPHA:562	GNAS	2778	HP:0003118	Increased circulating cortisol level
ORPHA:562	GNAS	2778	HP:0000853	Goiter
ORPHA:562	GNAS	2778	HP:0002757	Recurrent fractures
ORPHA:562	GNAS	2778	HP:0000147	Polycystic ovaries
ORPHA:562	GNAS	2778	HP:0002148	Hypophosphatemia
ORPHA:562	GNAS	2778	HP:0000648	Optic atrophy
ORPHA:562	GNAS	2778	HP:0100242	Sarcoma
ORPHA:562	GNAS	2778	HP:0000364	Hearing abnormality
ORPHA:231169	CIB2	10518	HP:0000716	Depressivity
ORPHA:231169	CIB2	10518	HP:0000375	Abnormal cochlea morphology
ORPHA:231169	CIB2	10518	HP:0001263	Global developmental delay
ORPHA:231169	CIB2	10518	HP:0001756	Vestibular hypofunction
ORPHA:231169	CIB2	10518	HP:0012157	Subcortical cerebral atrophy
ORPHA:231169	CIB2	10518	HP:0000682	Abnormality of dental enamel
ORPHA:231169	CIB2	10518	HP:0000739	Anxiety
ORPHA:231169	CIB2	10518	HP:0100753	Schizophrenia
ORPHA:231169	CIB2	10518	HP:0000512	Abnormal electroretinogram
ORPHA:231169	CIB2	10518	HP:0007730	Iris hypopigmentation
ORPHA:231169	CIB2	10518	HP:0001249	Intellectual disability
ORPHA:231169	CIB2	10518	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:231169	CIB2	10518	HP:0000575	Scotoma
ORPHA:231169	CIB2	10518	HP:0000407	Sensorineural hearing impairment
ORPHA:231169	CIB2	10518	HP:0000518	Cataract
ORPHA:231169	CIB2	10518	HP:0000572	Visual loss
ORPHA:231169	CIB2	10518	HP:0000738	Hallucinations
ORPHA:231169	CIB2	10518	HP:0012377	Hemianopia
ORPHA:231169	CIB2	10518	HP:0001251	Ataxia
ORPHA:231169	CIB2	10518	HP:0002120	Cerebral cortical atrophy
ORPHA:231169	CIB2	10518	HP:0008499	High hypermetropia
ORPHA:231169	CIB2	10518	HP:0000662	Nyctalopia
ORPHA:231169	USH1G	124590	HP:0000716	Depressivity
ORPHA:231169	USH1G	124590	HP:0000375	Abnormal cochlea morphology
ORPHA:231169	USH1G	124590	HP:0001263	Global developmental delay
ORPHA:231169	USH1G	124590	HP:0001756	Vestibular hypofunction
ORPHA:231169	USH1G	124590	HP:0012157	Subcortical cerebral atrophy
ORPHA:231169	USH1G	124590	HP:0000682	Abnormality of dental enamel
ORPHA:231169	USH1G	124590	HP:0000739	Anxiety
ORPHA:231169	USH1G	124590	HP:0100753	Schizophrenia
ORPHA:231169	USH1G	124590	HP:0000512	Abnormal electroretinogram
ORPHA:231169	USH1G	124590	HP:0007730	Iris hypopigmentation
ORPHA:231169	USH1G	124590	HP:0001249	Intellectual disability
ORPHA:231169	USH1G	124590	HP:0007360	Aplasia/Hypoplasia of the cerebellum
ORPHA:231169	USH1G	124590	HP:0000575	Scotoma
ORPHA:231169	USH1G	124590	HP:0000407	Sensorineural hearing impairment
ORPHA:231169	USH1G	124590	HP:0000518	Cataract
ORPHA:231169	USH1G	124590	HP:0000572	Visual loss
ORPHA:231169	USH1G	124590	HP:0000738	Hallucinations
ORPHA:231169	USH1G	124590	HP:0012377	Hemianopia
ORPHA:231169	USH1G	124590	HP:0001251	Ataxia
ORPHA:231169	USH1G	124590	HP:0002120	Cerebral cortical atrophy
ORPHA:231169	USH1G	124590	HP:0008499	High hypermetropia
ORPHA:231169	USH1G	124590	HP:0000662	Nyctalopia
OMIM:614562	ARID1B	57492	HP:0004322	Short stature
OMIM:614562	ARID1B	57492	HP:0000006	Autosomal dominant inheritance
OMIM:614562	ARID1B	57492	HP:0001252	Muscular hypotonia
OMIM:614562	ARID1B	57492	HP:0000368	Low-set, posteriorly rotated ears
OMIM:614562	ARID1B	57492	HP:0000219	Thin upper lip vermilion
OMIM:614562	ARID1B	57492	HP:0000414	Bulbous nose
OMIM:614562	ARID1B	57492	HP:0000494	Downslanted palpebral fissures
OMIM:614562	ARID1B	57492	HP:0001249	Intellectual disability
OMIM:125853	PPP1R3A	5506	HP:0000855	Insulin resistance
OMIM:125853	PPP1R3A	5506	HP:0000006	Autosomal dominant inheritance
OMIM:125853	PPP1R3A	5506	HP:0005978	Type II diabetes mellitus
OMIM:125853	PPP1R3A	5506	HP:0003584	Late onset
OMIM:606943	USH1G	124590	HP:0001751	Vestibular dysfunction
OMIM:606943	USH1G	124590	HP:0000407	Sensorineural hearing impairment
OMIM:606943	USH1G	124590	HP:0000510	Rod-cone dystrophy
OMIM:606943	USH1G	124590	HP:0004646	Hypoplasia of the nasal bone
OMIM:606943	USH1G	124590	HP:0000007	Autosomal recessive inheritance
OMIM:115300	BCO1	53630	HP:0000006	Autosomal dominant inheritance
OMIM:115300	BCO1	53630	HP:0004905	Vitamin A deficiency
OMIM:115300	BCO1	53630	HP:0000951	Abnormality of the skin
ORPHA:897	EDN3	1908	HP:0000506	Telecanthus
ORPHA:897	EDN3	1908	HP:0001341	Olfactory lobe agenesis
ORPHA:897	EDN3	1908	HP:0002027	Abdominal pain
ORPHA:897	EDN3	1908	HP:0005214	Intestinal obstruction
ORPHA:897	EDN3	1908	HP:0002019	Constipation
ORPHA:897	EDN3	1908	HP:0002227	White eyelashes
ORPHA:897	EDN3	1908	HP:0007703	Abnormality of retinal pigmentation
ORPHA:897	EDN3	1908	HP:0000431	Wide nasal bridge
ORPHA:897	EDN3	1908	HP:0000426	Prominent nasal bridge
ORPHA:897	EDN3	1908	HP:0001103	Abnormal macular morphology
ORPHA:897	EDN3	1908	HP:0002251	Aganglionic megacolon
ORPHA:897	EDN3	1908	HP:0000365	Hearing impairment
ORPHA:897	EDN3	1908	HP:0002216	Premature graying of hair
ORPHA:897	EDN3	1908	HP:0000504	Abnormality of vision
ORPHA:897	EDN3	1908	HP:0002211	White forelock
ORPHA:897	EDN3	1908	HP:0000664	Synophrys
ORPHA:897	EDN3	1908	HP:0000430	Underdeveloped nasal alae
ORPHA:897	EDN3	1908	HP:0002226	White eyebrow
ORPHA:3111	SLCO1B1	10599	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:3111	SLCO1B1	10599	HP:0001945	Fever
ORPHA:3111	SLCO1B1	10599	HP:0004295	Abnormality of the gastric mucosa
ORPHA:3111	SLCO1B1	10599	HP:0000952	Jaundice
ORPHA:3111	SLCO1B1	10599	HP:0002027	Abdominal pain
OMIM:608940	PCYT1A	5130	HP:0002650	Scoliosis
OMIM:608940	PCYT1A	5130	HP:0002980	Femoral bowing
OMIM:608940	PCYT1A	5130	HP:0002657	Spondylometaphyseal dysplasia
OMIM:608940	PCYT1A	5130	HP:0000689	Dental malocclusion
OMIM:608940	PCYT1A	5130	HP:0003021	Metaphyseal cupping
OMIM:608940	PCYT1A	5130	HP:0001387	Joint stiffness
OMIM:608940	PCYT1A	5130	HP:0002982	Tibial bowing
OMIM:608940	PCYT1A	5130	HP:0000639	Nystagmus
OMIM:608940	PCYT1A	5130	HP:0003016	Metaphyseal widening
OMIM:608940	PCYT1A	5130	HP:0000548	Cone/cone-rod dystrophy
OMIM:608940	PCYT1A	5130	HP:0008002	Abnormality of macular pigmentation
OMIM:608940	PCYT1A	5130	HP:0000007	Autosomal recessive inheritance
OMIM:608940	PCYT1A	5130	HP:0003300	Ovoid vertebral bodies
OMIM:608940	PCYT1A	5130	HP:0010049	Short metacarpal
OMIM:608940	PCYT1A	5130	HP:0003025	Metaphyseal irregularity
OMIM:608940	PCYT1A	5130	HP:0002812	Coxa vara
OMIM:608940	PCYT1A	5130	HP:0008821	Hypoplastic inferior ilia
OMIM:608940	PCYT1A	5130	HP:0001156	Brachydactyly
OMIM:608940	PCYT1A	5130	HP:0003375	Narrow greater sacrosciatic notches
OMIM:608940	PCYT1A	5130	HP:0008905	Rhizomelia
OMIM:608940	PCYT1A	5130	HP:0008897	Postnatal growth retardation
OMIM:608940	PCYT1A	5130	HP:0000403	Recurrent otitis media
OMIM:608940	PCYT1A	5130	HP:0000887	Cupped ribs
OMIM:608940	PCYT1A	5130	HP:0009381	Short finger
OMIM:608940	PCYT1A	5130	HP:0000529	Progressive visual loss
OMIM:608940	PCYT1A	5130	HP:0004565	Severe platyspondyly
OMIM:188000	ANKRD26	22852	HP:0001873	Thrombocytopenia
OMIM:188000	ANKRD26	22852	HP:0000006	Autosomal dominant inheritance
OMIM:188000	ANKRD26	22852	HP:0000978	Bruising susceptibility
OMIM:614099	IFT43	112752	HP:0000256	Macrocephaly
OMIM:614099	IFT43	112752	HP:0000958	Dry skin
OMIM:614099	IFT43	112752	HP:0000973	Cutis laxa
OMIM:614099	IFT43	112752	HP:0001852	Sandal gap
OMIM:614099	IFT43	112752	HP:0000232	Everted lower lip vermilion
OMIM:614099	IFT43	112752	HP:0008070	Sparse hair
OMIM:614099	IFT43	112752	HP:0000007	Autosomal recessive inheritance
OMIM:614099	IFT43	112752	HP:0000347	Micrognathia
OMIM:614099	IFT43	112752	HP:0000774	Narrow chest
OMIM:614099	IFT43	112752	HP:0003774	Stage 5 chronic kidney disease
OMIM:614099	IFT43	112752	HP:0030799	Scaphocephaly
OMIM:614099	IFT43	112752	HP:0000506	Telecanthus
OMIM:614099	IFT43	112752	HP:0000968	Ectodermal dysplasia
OMIM:614099	IFT43	112752	HP:0002213	Fine hair
OMIM:614099	IFT43	112752	HP:0001156	Brachydactyly
OMIM:614099	IFT43	112752	HP:0004322	Short stature
OMIM:614099	IFT43	112752	HP:0004969	Peripheral pulmonary artery stenosis
OMIM:614099	IFT43	112752	HP:0000685	Hypoplasia of teeth
OMIM:614099	IFT43	112752	HP:0000687	Widely spaced teeth
OMIM:614099	IFT43	112752	HP:0001159	Syndactyly
OMIM:614099	IFT43	112752	HP:0001388	Joint laxity
OMIM:614099	IFT43	112752	HP:0100259	Postaxial polydactyly
OMIM:614099	IFT43	112752	HP:0000090	Nephronophthisis
OMIM:614099	IFT43	112752	HP:0001799	Short nail
OMIM:614099	IFT43	112752	HP:0001821	Broad nail
OMIM:614099	IFT43	112752	HP:0004442	Sagittal craniosynostosis
OMIM:614099	IFT43	112752	HP:0002007	Frontal bossing
OMIM:614099	IFT43	112752	HP:0001394	Cirrhosis
OMIM:192430	TBX1	6899	HP:0000201	Pierre-Robin sequence
OMIM:192430	TBX1	6899	HP:0004322	Short stature
OMIM:192430	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:192430	TBX1	6899	HP:0000430	Underdeveloped nasal alae
OMIM:192430	TBX1	6899	HP:0000194	Open mouth
OMIM:192430	TBX1	6899	HP:0001629	Ventricular septal defect
OMIM:192430	TBX1	6899	HP:0005435	Impaired T cell function
OMIM:192430	TBX1	6899	HP:0011999	Paranoia
OMIM:192430	TBX1	6899	HP:0000175	Cleft palate
OMIM:192430	TBX1	6899	HP:0006549	Unilateral primary pulmonary dysgenesis
OMIM:192430	TBX1	6899	HP:0000023	Inguinal hernia
OMIM:192430	TBX1	6899	HP:0000627	Posterior embryotoxon
OMIM:192430	TBX1	6899	HP:0001328	Specific learning disability
OMIM:192430	TBX1	6899	HP:0001155	Abnormality of the hand
OMIM:192430	TBX1	6899	HP:0012841	Retinal vascular tortuosity
OMIM:192430	TBX1	6899	HP:0001249	Intellectual disability
OMIM:192430	TBX1	6899	HP:0000220	Velopharyngeal insufficiency
OMIM:192430	TBX1	6899	HP:0000581	Blepharophimosis
OMIM:192430	TBX1	6899	HP:0001611	Nasal speech
OMIM:192430	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:192430	TBX1	6899	HP:0000252	Microcephaly
OMIM:192430	TBX1	6899	HP:0002627	Right aortic arch with mirror image branching
OMIM:192430	TBX1	6899	HP:0000278	Retrognathia
OMIM:192430	TBX1	6899	HP:0000414	Bulbous nose
OMIM:192430	TBX1	6899	HP:0002901	Hypocalcemia
OMIM:192430	TBX1	6899	HP:0000818	Abnormality of the endocrine system
OMIM:192430	TBX1	6899	HP:0000598	Abnormality of the ear
OMIM:192430	TBX1	6899	HP:0001537	Umbilical hernia
OMIM:192430	TBX1	6899	HP:0000718	Aggressive behavior
OMIM:192430	TBX1	6899	HP:0000720	Mood swings
OMIM:192430	TBX1	6899	HP:0002719	Recurrent infections
OMIM:192430	TBX1	6899	HP:0001252	Muscular hypotonia
OMIM:616409	EEF1A2	1917	HP:0001263	Global developmental delay
OMIM:616409	EEF1A2	1917	HP:0003593	Infantile onset
OMIM:616409	EEF1A2	1917	HP:0005484	Postnatal microcephaly
OMIM:616409	EEF1A2	1917	HP:0000252	Microcephaly
OMIM:616409	EEF1A2	1917	HP:0000006	Autosomal dominant inheritance
OMIM:616409	EEF1A2	1917	HP:0200134	Epileptic encephalopathy
OMIM:616409	EEF1A2	1917	HP:0001252	Muscular hypotonia
OMIM:616409	EEF1A2	1917	HP:0001319	Neonatal hypotonia
OMIM:616409	EEF1A2	1917	HP:0002317	Unsteady gait
OMIM:616409	EEF1A2	1917	HP:0002521	Hypsarrhythmia
OMIM:616409	EEF1A2	1917	HP:0001250	Seizures
OMIM:616409	EEF1A2	1917	HP:0000718	Aggressive behavior
OMIM:614023	PSPH	5723	HP:0008897	Postnatal growth retardation
OMIM:614023	PSPH	5723	HP:0001263	Global developmental delay
OMIM:614023	PSPH	5723	HP:0001511	Intrauterine growth retardation
OMIM:614023	PSPH	5723	HP:0002059	Cerebral atrophy
OMIM:614023	PSPH	5723	HP:0001249	Intellectual disability
OMIM:614023	PSPH	5723	HP:0000007	Autosomal recessive inheritance
OMIM:614023	PSPH	5723	HP:0000252	Microcephaly
OMIM:614023	PSPH	5723	HP:0001276	Hypertonia
OMIM:614023	PSPH	5723	HP:0001250	Seizures
OMIM:614023	PSPH	5723	HP:0003593	Infantile onset
OMIM:254780	EPM2A	7957	HP:0002367	Visual hallucinations
OMIM:254780	EPM2A	7957	HP:0000726	Dementia
OMIM:254780	EPM2A	7957	HP:0002123	Generalized myoclonic seizures
OMIM:254780	EPM2A	7957	HP:0007334	Generalized tonic-clonic seizures with focal onset
OMIM:254780	EPM2A	7957	HP:0000007	Autosomal recessive inheritance
OMIM:254780	EPM2A	7957	HP:0000572	Visual loss
OMIM:254780	EPM2A	7957	HP:0001399	Hepatic failure
OMIM:254780	EPM2A	7957	HP:0001425	Heterogeneous
OMIM:254780	EPM2A	7957	HP:0002186	Apraxia
OMIM:254780	EPM2A	7957	HP:0001336	Myoclonus
OMIM:254780	EPM2A	7957	HP:0002121	Absence seizures
OMIM:254780	EPM2A	7957	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:254780	EPM2A	7957	HP:0025121	Simple partial occipital seizures
OMIM:254780	EPM2A	7957	HP:0000709	Psychosis
OMIM:254780	EPM2A	7957	HP:0000992	Cutaneous photosensitivity
OMIM:254780	EPM2A	7957	HP:0002344	Progressive neurologic deterioration
OMIM:254780	EPM2A	7957	HP:0003678	Rapidly progressive
OMIM:254780	EPM2A	7957	HP:0011165	Visual auras
OMIM:254780	EPM2A	7957	HP:0001288	Gait disturbance
OMIM:302960	EBP	10682	HP:0000501	Glaucoma
OMIM:302960	EBP	10682	HP:0000494	Downslanted palpebral fissures
OMIM:302960	EBP	10682	HP:0003577	Congenital onset
OMIM:302960	EBP	10682	HP:0001305	Dandy-Walker malformation
OMIM:302960	EBP	10682	HP:0002007	Frontal bossing
OMIM:302960	EBP	10682	HP:0000969	Edema
OMIM:302960	EBP	10682	HP:0011120	Concave nasal ridge
OMIM:302960	EBP	10682	HP:0003828	Variable expressivity
OMIM:302960	EBP	10682	HP:0008131	Tarsal stippling
OMIM:302960	EBP	10682	HP:0000470	Short neck
OMIM:302960	EBP	10682	HP:0001561	Polyhydramnios
OMIM:302960	EBP	10682	HP:0003465	Elevated 8(9)-cholestenol
OMIM:302960	EBP	10682	HP:0000272	Malar flattening
OMIM:302960	EBP	10682	HP:0001019	Erythroderma
OMIM:302960	EBP	10682	HP:0001776	Bilateral talipes equinovarus
OMIM:302960	EBP	10682	HP:0001596	Alopecia
OMIM:302960	EBP	10682	HP:0008420	Punctate vertebral calcifications
OMIM:302960	EBP	10682	HP:0000765	Abnormality of the thorax
OMIM:302960	EBP	10682	HP:0002777	Tracheal stenosis
OMIM:302960	EBP	10682	HP:0004241	Stippled calcification in carpal bones
OMIM:302960	EBP	10682	HP:0000126	Hydronephrosis
OMIM:302960	EBP	10682	HP:0012368	Flat face
OMIM:302960	EBP	10682	HP:0003462	Elevated 8-dehydrocholesterol
OMIM:302960	EBP	10682	HP:0007431	Congenital ichthyosiform erythroderma
OMIM:302960	EBP	10682	HP:0100259	Postaxial polydactyly
OMIM:302960	EBP	10682	HP:0000568	Microphthalmia
OMIM:302960	EBP	10682	HP:0002650	Scoliosis
OMIM:302960	EBP	10682	HP:0000365	Hearing impairment
OMIM:302960	EBP	10682	HP:0000653	Sparse eyelashes
OMIM:302960	EBP	10682	HP:0002787	Tracheal calcification
OMIM:302960	EBP	10682	HP:0000535	Sparse and thin eyebrow
OMIM:302960	EBP	10682	HP:0002644	Abnormality of pelvic girdle bone morphology
OMIM:302960	EBP	10682	HP:0002342	Intellectual disability, moderate
OMIM:302960	EBP	10682	HP:0001423	X-linked dominant inheritance
OMIM:302960	EBP	10682	HP:0001508	Failure to thrive
OMIM:302960	EBP	10682	HP:0010655	Epiphyseal stippling
OMIM:302960	EBP	10682	HP:0002999	Patellar dislocation
OMIM:302960	EBP	10682	HP:0000639	Nystagmus
OMIM:302960	EBP	10682	HP:0008897	Postnatal growth retardation
OMIM:302960	EBP	10682	HP:0000518	Cataract
OMIM:302960	EBP	10682	HP:0000377	Abnormality of the pinna
OMIM:302960	EBP	10682	HP:0002937	Hemivertebrae
OMIM:302960	EBP	10682	HP:0100556	Hemiatrophy
OMIM:613582	PDE6G	5148	HP:0011505	Cystoid macular edema
OMIM:613582	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613582	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613582	PDE6G	5148	HP:0000543	Optic disc pallor
OMIM:613582	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:604367	PPP1R3A	5506	HP:0000464	Abnormality of the neck
OMIM:604367	PPP1R3A	5506	HP:0003074	Hyperglycemia
OMIM:604367	PPP1R3A	5506	HP:0000786	Primary amenorrhea
OMIM:604367	PPP1R3A	5506	HP:0000876	Oligomenorrhea
OMIM:604367	PPP1R3A	5506	HP:0001394	Cirrhosis
OMIM:604367	PPP1R3A	5506	HP:0000822	Hypertension
OMIM:604367	PPP1R3A	5506	HP:0002149	Hyperuricemia
OMIM:604367	PPP1R3A	5506	HP:0009125	Lipodystrophy
OMIM:604367	PPP1R3A	5506	HP:0000956	Acanthosis nigricans
OMIM:604367	PPP1R3A	5506	HP:0003758	Reduced subcutaneous adipose tissue
OMIM:604367	PPP1R3A	5506	HP:0009800	Maternal diabetes
OMIM:604367	PPP1R3A	5506	HP:0001397	Hepatic steatosis
OMIM:604367	PPP1R3A	5506	HP:0000831	Insulin-resistant diabetes mellitus
OMIM:604367	PPP1R3A	5506	HP:0002155	Hypertriglyceridemia
OMIM:604367	PPP1R3A	5506	HP:0009017	Loss of gluteal subcutaneous adipose tissue
OMIM:604367	PPP1R3A	5506	HP:0001015	Prominent superficial veins
OMIM:604367	PPP1R3A	5506	HP:0001007	Hirsutism
OMIM:604367	PPP1R3A	5506	HP:0000006	Autosomal dominant inheritance
OMIM:604367	PPP1R3A	5506	HP:0003011	Abnormality of the musculature
OMIM:604367	PPP1R3A	5506	HP:0100602	Preeclampsia
OMIM:604367	PPP1R3A	5506	HP:0000147	Polycystic ovaries
OMIM:604367	PPP1R3A	5506	HP:0003635	Loss of subcutaneous adipose tissue in limbs
OMIM:604367	PPP1R3A	5506	HP:0003233	Decreased circulating high-density lipoprotein levels
OMIM:604367	PPP1R3A	5506	HP:0000842	Hyperinsulinemia
OMIM:604367	PPP1R3A	5506	HP:0000271	Abnormality of the face
OMIM:415000	USP9Y	8287	HP:0000027	Azoospermia
OMIM:415000	USP9Y	8287	HP:0001450	Y-linked inheritance
ORPHA:256	TOR1A	1861	HP:0001608	Abnormality of the voice
ORPHA:256	TOR1A	1861	HP:0001276	Hypertonia
ORPHA:256	TOR1A	1861	HP:0001288	Gait disturbance
OMIM:604168	CTDP1	9150	HP:0003431	Decreased motor nerve conduction velocity
OMIM:604168	CTDP1	9150	HP:0008734	Decreased testicular size
OMIM:604168	CTDP1	9150	HP:0001263	Global developmental delay
OMIM:604168	CTDP1	9150	HP:0001999	Abnormal facial shape
OMIM:604168	CTDP1	9150	HP:0004322	Short stature
OMIM:604168	CTDP1	9150	HP:0008942	Acute rhabdomyolysis
OMIM:604168	CTDP1	9150	HP:0000007	Autosomal recessive inheritance
OMIM:604168	CTDP1	9150	HP:0000639	Nystagmus
OMIM:604168	CTDP1	9150	HP:0010620	Malar prominence
OMIM:604168	CTDP1	9150	HP:0011096	Peripheral demyelination
OMIM:604168	CTDP1	9150	HP:0001171	Split hand
OMIM:604168	CTDP1	9150	HP:0001761	Pes cavus
OMIM:604168	CTDP1	9150	HP:0000482	Microcornea
OMIM:604168	CTDP1	9150	HP:0001270	Motor delay
OMIM:604168	CTDP1	9150	HP:0002072	Chorea
OMIM:604168	CTDP1	9150	HP:0001249	Intellectual disability
OMIM:604168	CTDP1	9150	HP:0002751	Kyphoscoliosis
OMIM:604168	CTDP1	9150	HP:0003593	Infantile onset
OMIM:604168	CTDP1	9150	HP:0002816	Genu recurvatum
OMIM:604168	CTDP1	9150	HP:0000764	Peripheral axonal degeneration
OMIM:604168	CTDP1	9150	HP:0000164	Abnormality of the dentition
OMIM:604168	CTDP1	9150	HP:0007178	Motor polyneuropathy
OMIM:604168	CTDP1	9150	HP:0000519	Congenital cataract
OMIM:604168	CTDP1	9150	HP:0100543	Cognitive impairment
OMIM:604168	CTDP1	9150	HP:0000044	Hypogonadotrophic hypogonadism
OMIM:604168	CTDP1	9150	HP:0000815	Hypergonadotropic hypogonadism
OMIM:604168	CTDP1	9150	HP:0003487	Babinski sign
OMIM:604168	CTDP1	9150	HP:0002059	Cerebral atrophy
OMIM:604168	CTDP1	9150	HP:0007182	Peripheral hypomyelination
OMIM:604168	CTDP1	9150	HP:0001762	Talipes equinovarus
OMIM:604168	CTDP1	9150	HP:0008214	Decreased serum estradiol
OMIM:604168	CTDP1	9150	HP:0000786	Primary amenorrhea
OMIM:604168	CTDP1	9150	HP:0001251	Ataxia
OMIM:237450	SLCO1B1	10599	HP:0001000	Abnormality of skin pigmentation
OMIM:237450	SLCO1B1	10599	HP:0000007	Autosomal recessive inheritance
OMIM:237450	SLCO1B1	10599	HP:0002908	Conjugated hyperbilirubinemia
OMIM:237450	SLCO1B1	10599	HP:0000952	Jaundice
OMIM:237450	SLCO1B1	10599	HP:0000924	Abnormality of the skeletal system
OMIM:614851	NIN	51199	HP:0004626	Lumbar scoliosis
OMIM:614851	NIN	51199	HP:0001385	Hip dysplasia
OMIM:614851	NIN	51199	HP:0001191	Abnormality of the carpal bones
OMIM:614851	NIN	51199	HP:0010864	Intellectual disability, severe
OMIM:614851	NIN	51199	HP:0003510	Severe short stature
OMIM:614851	NIN	51199	HP:0002750	Delayed skeletal maturation
OMIM:614851	NIN	51199	HP:0000252	Microcephaly
OMIM:614851	NIN	51199	HP:0000786	Primary amenorrhea
OMIM:614851	NIN	51199	HP:0001511	Intrauterine growth retardation
OMIM:614851	NIN	51199	HP:0000601	Hypotelorism
OMIM:614851	NIN	51199	HP:0011344	Severe global developmental delay
OMIM:614851	NIN	51199	HP:0001250	Seizures
OMIM:614851	NIN	51199	HP:0011787	Central hypothyroidism
OMIM:614851	NIN	51199	HP:0000007	Autosomal recessive inheritance
OMIM:614851	NIN	51199	HP:0000448	Prominent nose
OMIM:614851	NIN	51199	HP:0000013	Hypoplasia of the uterus
OMIM:614851	NIN	51199	HP:0003067	Madelung deformity
OMIM:614851	NIN	51199	HP:0008551	Microtia
OMIM:114480	TSG101	7251	HP:0001425	Heterogeneous
OMIM:114480	TSG101	7251	HP:0003002	Breast carcinoma
OMIM:114480	TSG101	7251	HP:0000006	Autosomal dominant inheritance
OMIM:189960	FANCM	57697	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCM	57697	HP:0002032	Esophageal atresia
OMIM:189960	FANCG	2189	HP:0002575	Tracheoesophageal fistula
OMIM:189960	FANCG	2189	HP:0002032	Esophageal atresia
OMIM:206800	RSPO4	343637	HP:0001798	Anonychia
OMIM:206800	RSPO4	343637	HP:0000007	Autosomal recessive inheritance
OMIM:400044	SRY	6736	HP:0008187	Absence of secondary sex characteristics
OMIM:400044	SRY	6736	HP:0000037	Male pseudohermaphroditism
OMIM:400044	SRY	6736	HP:0000133	Gonadal dysgenesis
OMIM:400044	SRY	6736	HP:0000786	Primary amenorrhea
OMIM:400044	SRY	6736	HP:0000055	Abnormality of female external genitalia
OMIM:400044	SRY	6736	HP:0000098	Tall stature
OMIM:400044	SRY	6736	HP:0012245	Sex reversal
OMIM:252010	NDUFV2	4729	HP:0001427	Mitochondrial inheritance
OMIM:252010	NDUFV2	4729	HP:0001272	Cerebellar atrophy
OMIM:252010	NDUFV2	4729	HP:0004481	Progressive macrocephaly
OMIM:252010	NDUFV2	4729	HP:0001347	Hyperreflexia
OMIM:252010	NDUFV2	4729	HP:0001510	Growth delay
OMIM:252010	NDUFV2	4729	HP:0000618	Blindness
OMIM:252010	NDUFV2	4729	HP:0003202	Skeletal muscle atrophy
OMIM:252010	NDUFV2	4729	HP:0001257	Spasticity
OMIM:252010	NDUFV2	4729	HP:0002013	Vomiting
OMIM:252010	NDUFV2	4729	HP:0000486	Strabismus
OMIM:252010	NDUFV2	4729	HP:0001263	Global developmental delay
OMIM:252010	NDUFV2	4729	HP:0002181	Cerebral edema
OMIM:252010	NDUFV2	4729	HP:0000543	Optic disc pallor
OMIM:252010	NDUFV2	4729	HP:0000407	Sensorineural hearing impairment
OMIM:252010	NDUFV2	4729	HP:0000007	Autosomal recessive inheritance
OMIM:252010	NDUFV2	4729	HP:0001265	Hyporeflexia
OMIM:252010	NDUFV2	4729	HP:0000508	Ptosis
OMIM:252010	NDUFV2	4729	HP:0003487	Babinski sign
OMIM:252010	NDUFV2	4729	HP:0002878	Respiratory failure
OMIM:252010	NDUFV2	4729	HP:0003546	Exercise intolerance
OMIM:252010	NDUFV2	4729	HP:0001290	Generalized hypotonia
OMIM:252010	NDUFV2	4729	HP:0001251	Ataxia
OMIM:252010	NDUFV2	4729	HP:0008316	Abnormal mitochondria in muscle tissue
OMIM:252010	NDUFV2	4729	HP:0001254	Lethargy
OMIM:252010	NDUFV2	4729	HP:0001639	Hypertrophic cardiomyopathy
OMIM:252010	NDUFV2	4729	HP:0003812	Phenotypic variability
OMIM:252010	NDUFV2	4729	HP:0000639	Nystagmus
OMIM:252010	NDUFV2	4729	HP:0001259	Coma
OMIM:252010	NDUFV2	4729	HP:0002490	Increased CSF lactate
OMIM:252010	NDUFV2	4729	HP:0006965	Acute necrotizing encephalopathy
OMIM:252010	NDUFV2	4729	HP:0003128	Lactic acidosis
OMIM:252010	NDUFV2	4729	HP:0001508	Failure to thrive
OMIM:252010	NDUFV2	4729	HP:0008872	Feeding difficulties in infancy
OMIM:252010	NDUFV2	4729	HP:0002376	Developmental regression
OMIM:252010	NDUFV2	4729	HP:0001250	Seizures
OMIM:252010	NDUFV2	4729	HP:0001399	Hepatic failure
OMIM:252010	NDUFV2	4729	HP:0002415	Leukodystrophy
OMIM:252010	NDUFV2	4729	HP:0001324	Muscle weakness
OMIM:252010	NDUFV2	4729	HP:0001423	X-linked dominant inheritance
OMIM:252010	NDUFV2	4729	HP:0001943	Hypoglycemia
OMIM:222470	TTC37	9652	HP:0006267	Large placenta
OMIM:222470	TTC37	9652	HP:0011031	Abnormality of iron homeostasis
OMIM:222470	TTC37	9652	HP:0000154	Wide mouth
OMIM:222470	TTC37	9652	HP:0002014	Diarrhea
OMIM:222470	TTC37	9652	HP:0009886	Trichorrhexis nodosa
OMIM:222470	TTC37	9652	HP:0012023	Galactosuria
OMIM:222470	TTC37	9652	HP:0000445	Wide nose
OMIM:222470	TTC37	9652	HP:0002299	Brittle hair
OMIM:222470	TTC37	9652	HP:0000952	Jaundice
OMIM:222470	TTC37	9652	HP:0002041	Intractable diarrhea
OMIM:222470	TTC37	9652	HP:0003073	Hypoalbuminemia
OMIM:222470	TTC37	9652	HP:0004734	Renal cortical microcysts
OMIM:222470	TTC37	9652	HP:0011473	Villous atrophy
OMIM:222470	TTC37	9652	HP:0002224	Woolly hair
OMIM:222470	TTC37	9652	HP:0008551	Microtia
OMIM:222470	TTC37	9652	HP:0000463	Anteverted nares
OMIM:222470	TTC37	9652	HP:0001395	Hepatic fibrosis
OMIM:222470	TTC37	9652	HP:0001518	Small for gestational age
OMIM:222470	TTC37	9652	HP:0004322	Short stature
OMIM:222470	TTC37	9652	HP:0000343	Long philtrum
OMIM:222470	TTC37	9652	HP:0000494	Downslanted palpebral fissures
OMIM:222470	TTC37	9652	HP:0001642	Pulmonic stenosis
OMIM:222470	TTC37	9652	HP:0002007	Frontal bossing
OMIM:222470	TTC37	9652	HP:0001894	Thrombocytosis
OMIM:222470	TTC37	9652	HP:0011220	Prominent forehead
OMIM:222470	TTC37	9652	HP:0011877	Increased mean platelet volume
OMIM:222470	TTC37	9652	HP:0001659	Aortic regurgitation
OMIM:222470	TTC37	9652	HP:0001508	Failure to thrive
OMIM:222470	TTC37	9652	HP:0001732	Abnormality of the pancreas
OMIM:222470	TTC37	9652	HP:0002212	Curly hair
OMIM:222470	TTC37	9652	HP:0100543	Cognitive impairment
OMIM:222470	TTC37	9652	HP:0001511	Intrauterine growth retardation
OMIM:222470	TTC37	9652	HP:0000369	Low-set ears
OMIM:222470	TTC37	9652	HP:0000457	Depressed nasal ridge
OMIM:222470	TTC37	9652	HP:0002240	Hepatomegaly
OMIM:222470	TTC37	9652	HP:0000160	Narrow mouth
OMIM:222470	TTC37	9652	HP:0000007	Autosomal recessive inheritance
OMIM:222470	TTC37	9652	HP:0000520	Proptosis
OMIM:222470	TTC37	9652	HP:0001629	Ventricular septal defect
OMIM:222470	TTC37	9652	HP:0008070	Sparse hair
OMIM:222470	TTC37	9652	HP:0002715	Abnormality of the immune system
OMIM:222470	TTC37	9652	HP:0009891	Underdeveloped supraorbital ridges
OMIM:222470	TTC37	9652	HP:0001399	Hepatic failure
OMIM:222470	TTC37	9652	HP:0001561	Polyhydramnios
OMIM:222470	TTC37	9652	HP:0001636	Tetralogy of Fallot
OMIM:222470	TTC37	9652	HP:0000316	Hypertelorism
OMIM:222470	TTC37	9652	HP:0003235	Hypermethioninemia
OMIM:222470	TTC37	9652	HP:0001394	Cirrhosis
OMIM:222470	TTC37	9652	HP:0001396	Cholestasis
OMIM:222470	TTC37	9652	HP:0000193	Bifid uvula
OMIM:222470	TTC37	9652	HP:0002213	Fine hair
OMIM:147750	SALL4	57167	HP:0001498	Carpal bone hypoplasia
OMIM:147750	SALL4	57167	HP:0030241	Hypoplasia of deltoid muscle
OMIM:147750	SALL4	57167	HP:0001873	Thrombocytopenia
OMIM:147750	SALL4	57167	HP:0002974	Radioulnar synostosis
OMIM:147750	SALL4	57167	HP:0002996	Limited elbow movement
OMIM:147750	SALL4	57167	HP:0002650	Scoliosis
OMIM:147750	SALL4	57167	HP:0002984	Hypoplasia of the radius
OMIM:147750	SALL4	57167	HP:0009777	Absent thumb
OMIM:147750	SALL4	57167	HP:0002566	Intestinal malrotation
OMIM:147750	SALL4	57167	HP:0000544	External ophthalmoplegia
OMIM:147750	SALL4	57167	HP:0001974	Leukocytosis
OMIM:147750	SALL4	57167	HP:0002023	Anal atresia
OMIM:147750	SALL4	57167	HP:0010034	Short 1st metacarpal
OMIM:147750	SALL4	57167	HP:0006064	Limited interphalangeal movement
OMIM:147750	SALL4	57167	HP:0003812	Phenotypic variability
OMIM:147750	SALL4	57167	HP:0000486	Strabismus
OMIM:147750	SALL4	57167	HP:0001245	Small thenar eminence
OMIM:147750	SALL4	57167	HP:0000006	Autosomal dominant inheritance
OMIM:147750	SALL4	57167	HP:0001199	Triphalangeal thumb
OMIM:147750	SALL4	57167	HP:0009702	Carpal synostosis
OMIM:147750	SALL4	57167	HP:0006248	Limited wrist movement
OMIM:147750	SALL4	57167	HP:0000143	Rectovaginal fistula
OMIM:147750	SALL4	57167	HP:0000365	Hearing impairment
OMIM:147750	SALL4	57167	HP:0008953	Pectoralis major hypoplasia
ORPHA:35173	EBP	10682	HP:0002007	Frontal bossing
ORPHA:35173	EBP	10682	HP:0012368	Flat face
ORPHA:35173	EBP	10682	HP:0000648	Optic atrophy
ORPHA:35173	EBP	10682	HP:0001373	Joint dislocation
ORPHA:35173	EBP	10682	HP:0000164	Abnormality of the dentition
ORPHA:35173	EBP	10682	HP:0000518	Cataract
ORPHA:35173	EBP	10682	HP:0000482	Microcornea
ORPHA:35173	EBP	10682	HP:0005930	Abnormality of epiphysis morphology
ORPHA:35173	EBP	10682	HP:0010783	Erythema
ORPHA:35173	EBP	10682	HP:0001385	Hip dysplasia
ORPHA:35173	EBP	10682	HP:0008905	Rhizomelia
ORPHA:35173	EBP	10682	HP:0003468	Abnormal vertebral morphology
ORPHA:35173	EBP	10682	HP:0001231	Abnormality of the fingernails
ORPHA:35173	EBP	10682	HP:0000568	Microphthalmia
ORPHA:35173	EBP	10682	HP:0001762	Talipes equinovarus
ORPHA:35173	EBP	10682	HP:0007431	Congenital ichthyosiform erythroderma
ORPHA:35173	EBP	10682	HP:0004209	Clinodactyly of the 5th finger
ORPHA:35173	EBP	10682	HP:0000286	Epicanthus
ORPHA:35173	EBP	10682	HP:0000272	Malar flattening
ORPHA:35173	EBP	10682	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:35173	EBP	10682	HP:0000508	Ptosis
ORPHA:35173	EBP	10682	HP:0100556	Hemiatrophy
ORPHA:35173	EBP	10682	HP:0000407	Sensorineural hearing impairment
ORPHA:35173	EBP	10682	HP:0001829	Foot polydactyly
ORPHA:35173	EBP	10682	HP:0004552	Scarring alopecia of scalp
ORPHA:35173	EBP	10682	HP:0002808	Kyphosis
ORPHA:35173	EBP	10682	HP:0010719	Abnormality of hair texture
OMIM:613385	ITCH	83737	HP:0001999	Abnormal facial shape
OMIM:613385	ITCH	83737	HP:0002960	Autoimmunity
OMIM:613385	ITCH	83737	HP:0000331	Short chin
OMIM:613385	ITCH	83737	HP:0000269	Prominent occiput
OMIM:613385	ITCH	83737	HP:0001263	Global developmental delay
OMIM:613385	ITCH	83737	HP:0000268	Dolichocephaly
OMIM:613385	ITCH	83737	HP:0000007	Autosomal recessive inheritance
OMIM:613385	ITCH	83737	HP:0002028	Chronic diarrhea
OMIM:613385	ITCH	83737	HP:0000369	Low-set ears
OMIM:613385	ITCH	83737	HP:0000520	Proptosis
OMIM:613385	ITCH	83737	HP:0004482	Relative macrocephaly
OMIM:613385	ITCH	83737	HP:0030084	Clinodactyly
OMIM:613385	ITCH	83737	HP:0012385	Camptodactyly
OMIM:613385	ITCH	83737	HP:0000358	Posteriorly rotated ears
OMIM:613385	ITCH	83737	HP:0001744	Splenomegaly
OMIM:613385	ITCH	83737	HP:0002240	Hepatomegaly
OMIM:613385	ITCH	83737	HP:0002007	Frontal bossing
OMIM:611038	RAX	30062	HP:0000528	Anophthalmia
OMIM:611038	RAX	30062	HP:0000647	Sclerocornea
OMIM:611038	RAX	30062	HP:0000568	Microphthalmia
OMIM:611038	RAX	30062	HP:0009755	Ankyloblepharon
OMIM:611038	RAX	30062	HP:0000007	Autosomal recessive inheritance
OMIM:123700	ELN	2006	HP:0001425	Heterogeneous
OMIM:123700	ELN	2006	HP:0001659	Aortic regurgitation
OMIM:123700	ELN	2006	HP:0002097	Emphysema
OMIM:123700	ELN	2006	HP:0001653	Mitral regurgitation
OMIM:123700	ELN	2006	HP:0000271	Abnormality of the face
OMIM:123700	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:123700	ELN	2006	HP:0007495	Prematurely aged appearance
OMIM:123700	ELN	2006	HP:0000023	Inguinal hernia
OMIM:123700	ELN	2006	HP:0001582	Redundant skin
OMIM:174800	GNAS	2778	HP:0005605	Large cafe-au-lait macules with irregular margins
OMIM:174800	GNAS	2778	HP:0002756	Pathologic fracture
OMIM:174800	GNAS	2778	HP:0003812	Phenotypic variability
OMIM:174800	GNAS	2778	HP:0003118	Increased circulating cortisol level
OMIM:174800	GNAS	2778	HP:0000618	Blindness
OMIM:174800	GNAS	2778	HP:0004493	Craniofacial hyperostosis
OMIM:174800	GNAS	2778	HP:0010735	Polyostotic fibrous dysplasia
OMIM:174800	GNAS	2778	HP:0200008	Intestinal polyposis
OMIM:174800	GNAS	2778	HP:0000843	Hyperparathyroidism
OMIM:174800	GNAS	2778	HP:0002893	Pituitary adenoma
OMIM:174800	GNAS	2778	HP:0000826	Precocious puberty
OMIM:174800	GNAS	2778	HP:0000845	Growth hormone excess
OMIM:174800	GNAS	2778	HP:0001442	Somatic mosaicism
OMIM:174800	GNAS	2778	HP:0000870	Prolactin excess
OMIM:174800	GNAS	2778	HP:0000365	Hearing impairment
OMIM:174800	GNAS	2778	HP:0000836	Hyperthyroidism
OMIM:174800	GNAS	2778	HP:0000324	Facial asymmetry
OMIM:612961	FGF9	2254	HP:0000006	Autosomal dominant inheritance
OMIM:612961	FGF9	2254	HP:0006064	Limited interphalangeal movement
OMIM:612961	FGF9	2254	HP:0001440	Metatarsal synostosis
OMIM:612961	FGF9	2254	HP:0003041	Humeroradial synostosis
OMIM:612961	FGF9	2254	HP:0009701	Metacarpal synostosis
OMIM:612961	FGF9	2254	HP:0002967	Cubitus valgus
OMIM:615651	CLCN2	1181	HP:0000007	Autosomal recessive inheritance
OMIM:615651	CLCN2	1181	HP:0002070	Limb ataxia
OMIM:615651	CLCN2	1181	HP:0002066	Gait ataxia
OMIM:615651	CLCN2	1181	HP:0001123	Visual field defect
OMIM:615651	CLCN2	1181	HP:0002315	Headache
OMIM:615651	CLCN2	1181	HP:0000532	Abnormal chorioretinal morphology
OMIM:615651	CLCN2	1181	HP:0001138	Optic neuropathy
OMIM:615651	CLCN2	1181	HP:0002352	Leukoencephalopathy
OMIM:604360	SPG11	80208	HP:0001251	Ataxia
OMIM:604360	SPG11	80208	HP:0002120	Cerebral cortical atrophy
OMIM:604360	SPG11	80208	HP:0000505	Visual impairment
OMIM:604360	SPG11	80208	HP:0003380	Decreased number of peripheral myelinated nerve fibers
OMIM:604360	SPG11	80208	HP:0002061	Lower limb spasticity
OMIM:604360	SPG11	80208	HP:0000020	Urinary incontinence
OMIM:604360	SPG11	80208	HP:0000640	Gaze-evoked nystagmus
OMIM:604360	SPG11	80208	HP:0001328	Specific learning disability
OMIM:604360	SPG11	80208	HP:0003393	Thenar muscle atrophy
OMIM:604360	SPG11	80208	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:604360	SPG11	80208	HP:0001761	Pes cavus
OMIM:604360	SPG11	80208	HP:0011463	Childhood onset
OMIM:604360	SPG11	80208	HP:0002064	Spastic gait
OMIM:604360	SPG11	80208	HP:0007340	Lower limb muscle weakness
OMIM:604360	SPG11	80208	HP:0000608	Macular degeneration
OMIM:604360	SPG11	80208	HP:0000007	Autosomal recessive inheritance
OMIM:604360	SPG11	80208	HP:0001268	Mental deterioration
OMIM:604360	SPG11	80208	HP:0001274	Agenesis of corpus callosum
OMIM:604360	SPG11	80208	HP:0003676	Progressive
OMIM:604360	SPG11	80208	HP:0003487	Babinski sign
OMIM:604360	SPG11	80208	HP:0002079	Hypoplasia of the corpus callosum
OMIM:604360	SPG11	80208	HP:0000763	Sensory neuropathy
OMIM:604360	SPG11	80208	HP:0001513	Obesity
OMIM:604360	SPG11	80208	HP:0002015	Dysphagia
OMIM:604360	SPG11	80208	HP:0001260	Dysarthria
OMIM:604360	SPG11	80208	HP:0001347	Hyperreflexia
OMIM:604360	SPG11	80208	HP:0007067	Distal peripheral sensory neuropathy
OMIM:604360	SPG11	80208	HP:0002314	Degeneration of the lateral corticospinal tracts
OMIM:604360	SPG11	80208	HP:0001258	Spastic paraplegia
OMIM:604360	SPG11	80208	HP:0007178	Motor polyneuropathy
OMIM:604360	SPG11	80208	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:604360	SPG11	80208	HP:0000012	Urinary urgency
OMIM:604360	SPG11	80208	HP:0011449	Knee clonus
OMIM:604360	SPG11	80208	HP:0003581	Adult onset
OMIM:604360	SPG11	80208	HP:0002518	Abnormality of the periventricular white matter
OMIM:604360	SPG11	80208	HP:0030051	Tip-toe gait
OMIM:604360	SPG11	80208	HP:0001249	Intellectual disability
OMIM:604360	SPG11	80208	HP:0011448	Ankle clonus
ORPHA:567	TBX1	6899	HP:0001561	Polyhydramnios
ORPHA:567	TBX1	6899	HP:0000582	Upslanted palpebral fissure
ORPHA:567	TBX1	6899	HP:0000322	Short philtrum
ORPHA:567	TBX1	6899	HP:0002566	Intestinal malrotation
ORPHA:567	TBX1	6899	HP:0000648	Optic atrophy
ORPHA:567	TBX1	6899	HP:0100735	Hypertensive crisis
ORPHA:567	TBX1	6899	HP:0000414	Bulbous nose
ORPHA:567	TBX1	6899	HP:0000130	Abnormality of the uterus
ORPHA:567	TBX1	6899	HP:0000494	Downslanted palpebral fissures
ORPHA:567	TBX1	6899	HP:0001161	Hand polydactyly
ORPHA:567	TBX1	6899	HP:0000717	Autism
ORPHA:567	TBX1	6899	HP:0001263	Global developmental delay
ORPHA:567	TBX1	6899	HP:0000175	Cleft palate
ORPHA:567	TBX1	6899	HP:0001629	Ventricular septal defect
ORPHA:567	TBX1	6899	HP:0001508	Failure to thrive
ORPHA:567	TBX1	6899	HP:0001646	Abnormal aortic valve morphology
ORPHA:567	TBX1	6899	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:567	TBX1	6899	HP:0000389	Chronic otitis media
ORPHA:567	TBX1	6899	HP:0001601	Laryngomalacia
ORPHA:567	TBX1	6899	HP:0011496	Corneal neovascularization
ORPHA:567	TBX1	6899	HP:0001136	Retinal arteriolar tortuosity
ORPHA:567	TBX1	6899	HP:0000316	Hypertelorism
ORPHA:567	TBX1	6899	HP:0000405	Conductive hearing impairment
ORPHA:567	TBX1	6899	HP:0000286	Epicanthus
ORPHA:567	TBX1	6899	HP:0000501	Glaucoma
ORPHA:567	TBX1	6899	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:567	TBX1	6899	HP:0000023	Inguinal hernia
ORPHA:567	TBX1	6899	HP:0000470	Short neck
ORPHA:567	TBX1	6899	HP:0001053	Hypopigmented skin patches
ORPHA:567	TBX1	6899	HP:0002357	Dysphasia
ORPHA:567	TBX1	6899	HP:0002901	Hypocalcemia
ORPHA:567	TBX1	6899	HP:0000272	Malar flattening
ORPHA:567	TBX1	6899	HP:0002101	Abnormal lung lobation
ORPHA:567	TBX1	6899	HP:0000276	Long face
ORPHA:567	TBX1	6899	HP:0001166	Arachnodactyly
ORPHA:567	TBX1	6899	HP:0000089	Renal hypoplasia
ORPHA:567	TBX1	6899	HP:0002239	Gastrointestinal hemorrhage
ORPHA:567	TBX1	6899	HP:0000385	Small earlobe
ORPHA:567	TBX1	6899	HP:0001744	Splenomegaly
ORPHA:567	TBX1	6899	HP:0000113	Polycystic kidney dysplasia
ORPHA:567	TBX1	6899	HP:0000262	Turricephaly
ORPHA:567	TBX1	6899	HP:0007271	Occipital myelomeningocele
ORPHA:567	TBX1	6899	HP:0000836	Hyperthyroidism
ORPHA:567	TBX1	6899	HP:0011662	Tricuspid atresia
ORPHA:567	TBX1	6899	HP:0000518	Cataract
ORPHA:567	TBX1	6899	HP:0000568	Microphthalmia
ORPHA:567	TBX1	6899	HP:0001762	Talipes equinovarus
ORPHA:567	TBX1	6899	HP:0001511	Intrauterine growth retardation
ORPHA:567	TBX1	6899	HP:0000627	Posterior embryotoxon
ORPHA:567	TBX1	6899	HP:0002139	Arrhinencephaly
ORPHA:567	TBX1	6899	HP:0002099	Asthma
ORPHA:567	TBX1	6899	HP:0004322	Short stature
ORPHA:567	TBX1	6899	HP:0002721	Immunodeficiency
ORPHA:567	TBX1	6899	HP:0002020	Gastroesophageal reflux
ORPHA:567	TBX1	6899	HP:0001631	Atrial septal defect
ORPHA:567	TBX1	6899	HP:0002023	Anal atresia
ORPHA:567	TBX1	6899	HP:0000979	Purpura
ORPHA:567	TBX1	6899	HP:0000047	Hypospadias
ORPHA:567	TBX1	6899	HP:0000506	Telecanthus
ORPHA:567	TBX1	6899	HP:0001829	Foot polydactyly
ORPHA:567	TBX1	6899	HP:0007302	Bipolar affective disorder
ORPHA:567	TBX1	6899	HP:0002999	Patellar dislocation
ORPHA:567	TBX1	6899	HP:0001256	Intellectual disability, mild
ORPHA:567	TBX1	6899	HP:0001250	Seizures
ORPHA:567	TBX1	6899	HP:0001537	Umbilical hernia
ORPHA:567	TBX1	6899	HP:0001513	Obesity
ORPHA:567	TBX1	6899	HP:0000347	Micrognathia
ORPHA:567	TBX1	6899	HP:0000716	Depressivity
ORPHA:567	TBX1	6899	HP:0000396	Overfolded helix
ORPHA:567	TBX1	6899	HP:0000369	Low-set ears
ORPHA:567	TBX1	6899	HP:0001051	Seborrheic dermatitis
ORPHA:567	TBX1	6899	HP:0000028	Cryptorchidism
ORPHA:567	TBX1	6899	HP:0002251	Aganglionic megacolon
ORPHA:567	TBX1	6899	HP:0100765	Abnormality of the tonsils
ORPHA:567	TBX1	6899	HP:0000670	Carious teeth
ORPHA:567	TBX1	6899	HP:0000508	Ptosis
ORPHA:567	TBX1	6899	HP:0000682	Abnormality of dental enamel
ORPHA:567	TBX1	6899	HP:0002019	Constipation
ORPHA:567	TBX1	6899	HP:0001369	Arthritis
ORPHA:567	TBX1	6899	HP:0002691	Platybasia
ORPHA:567	TBX1	6899	HP:0001281	Tetany
ORPHA:567	TBX1	6899	HP:0008872	Feeding difficulties in infancy
ORPHA:567	TBX1	6899	HP:0000765	Abnormality of the thorax
ORPHA:567	TBX1	6899	HP:0005562	Multiple renal cysts
ORPHA:567	TBX1	6899	HP:0000426	Prominent nasal bridge
ORPHA:567	TBX1	6899	HP:0000453	Choanal atresia
ORPHA:567	TBX1	6899	HP:0000829	Hypoparathyroidism
ORPHA:567	TBX1	6899	HP:0000821	Hypothyroidism
ORPHA:567	TBX1	6899	HP:0000486	Strabismus
ORPHA:567	TBX1	6899	HP:0001643	Patent ductus arteriosus
ORPHA:567	TBX1	6899	HP:0000431	Wide nasal bridge
ORPHA:567	TBX1	6899	HP:0003326	Myalgia
ORPHA:567	TBX1	6899	HP:0001252	Muscular hypotonia
ORPHA:567	TBX1	6899	HP:0012303	Abnormal aortic arch morphology
ORPHA:567	TBX1	6899	HP:0001873	Thrombocytopenia
ORPHA:567	TBX1	6899	HP:0005692	Joint hyperflexibility
ORPHA:567	TBX1	6899	HP:0011324	Multiple suture craniosynostosis
ORPHA:567	TBX1	6899	HP:0100750	Atelectasis
ORPHA:567	TBX1	6899	HP:0000739	Anxiety
ORPHA:567	TBX1	6899	HP:0001611	Nasal speech
ORPHA:567	TBX1	6899	HP:0001641	Abnormal pulmonary valve morphology
ORPHA:567	TBX1	6899	HP:0000238	Hydrocephalus
ORPHA:567	TBX1	6899	HP:0001081	Cholelithiasis
ORPHA:567	TBX1	6899	HP:0000160	Narrow mouth
ORPHA:567	TBX1	6899	HP:0005435	Impaired T cell function
ORPHA:567	TBX1	6899	HP:0002619	Varicose veins
ORPHA:567	TBX1	6899	HP:0001328	Specific learning disability
ORPHA:567	TBX1	6899	HP:0000778	Hypoplasia of the thymus
ORPHA:567	TBX1	6899	HP:0000343	Long philtrum
ORPHA:567	TBX1	6899	HP:0000600	Abnormality of the pharynx
ORPHA:567	TBX1	6899	HP:0100753	Schizophrenia
ORPHA:567	TBX1	6899	HP:0000076	Vesicoureteral reflux
ORPHA:567	TBX1	6899	HP:0001061	Acne
ORPHA:567	TBX1	6899	HP:0000252	Microcephaly
ORPHA:567	TBX1	6899	HP:0001660	Truncus arteriosus
ORPHA:567	TBX1	6899	HP:0002607	Bowel incontinence
ORPHA:567	TBX1	6899	HP:0002650	Scoliosis
ORPHA:567	TBX1	6899	HP:0001636	Tetralogy of Fallot
ORPHA:567	TBX1	6899	HP:0002960	Autoimmunity
OMIM:166350	GNAS	2778	HP:0000951	Abnormality of the skin
OMIM:166350	GNAS	2778	HP:0001510	Growth delay
OMIM:166350	GNAS	2778	HP:0003676	Progressive
OMIM:166350	GNAS	2778	HP:0003011	Abnormality of the musculature
OMIM:166350	GNAS	2778	HP:0100246	Osteoma
OMIM:166350	GNAS	2778	HP:0003621	Juvenile onset
OMIM:166350	GNAS	2778	HP:0003828	Variable expressivity
OMIM:166350	GNAS	2778	HP:0003593	Infantile onset
OMIM:166350	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:613818	DAG1	1605	HP:0000750	Delayed speech and language development
OMIM:613818	DAG1	1605	HP:0006466	Ankle contracture
OMIM:613818	DAG1	1605	HP:0003236	Elevated serum creatine phosphokinase
OMIM:613818	DAG1	1605	HP:0003391	Gowers sign
OMIM:613818	DAG1	1605	HP:0003560	Muscular dystrophy
OMIM:613818	DAG1	1605	HP:0003325	Limb-girdle muscle weakness
OMIM:613818	DAG1	1605	HP:0001263	Global developmental delay
OMIM:613818	DAG1	1605	HP:0001249	Intellectual disability
OMIM:613818	DAG1	1605	HP:0000007	Autosomal recessive inheritance
OMIM:613818	DAG1	1605	HP:0002938	Lumbar hyperlordosis
ORPHA:186	TNPO3	23534	HP:0004386	Gastrointestinal inflammation
ORPHA:186	TNPO3	23534	HP:0011971	Dermatographic urticaria
ORPHA:186	TNPO3	23534	HP:0001541	Ascites
ORPHA:186	TNPO3	23534	HP:0001262	Excessive daytime somnolence
ORPHA:186	TNPO3	23534	HP:0001395	Hepatic fibrosis
ORPHA:186	TNPO3	23534	HP:0002608	Celiac disease
ORPHA:186	TNPO3	23534	HP:0003493	Antinuclear antibody positivity
ORPHA:186	TNPO3	23534	HP:0012203	Onychomycosis
ORPHA:186	TNPO3	23534	HP:0003073	Hypoalbuminemia
ORPHA:186	TNPO3	23534	HP:0003261	Increased IgA level
ORPHA:186	TNPO3	23534	HP:0000989	Pruritus
ORPHA:186	TNPO3	23534	HP:0001394	Cirrhosis
ORPHA:186	TNPO3	23534	HP:0001278	Orthostatic hypotension
ORPHA:186	TNPO3	23534	HP:0001399	Hepatic failure
ORPHA:186	TNPO3	23534	HP:0000939	Osteoporosis
ORPHA:186	TNPO3	23534	HP:0003119	Abnormality of lipid metabolism
ORPHA:186	TNPO3	23534	HP:0003496	Increased IgM level
ORPHA:186	TNPO3	23534	HP:0000820	Abnormality of the thyroid gland
ORPHA:186	TNPO3	23534	HP:0002908	Conjugated hyperbilirubinemia
ORPHA:186	TNPO3	23534	HP:0000952	Jaundice
ORPHA:186	TNPO3	23534	HP:0003270	Abdominal distention
ORPHA:186	TNPO3	23534	HP:0012378	Fatigue
ORPHA:186	TNPO3	23534	HP:0000953	Hyperpigmentation of the skin
ORPHA:186	TNPO3	23534	HP:0001402	Hepatocellular carcinoma
ORPHA:186	TNPO3	23534	HP:0003155	Elevated alkaline phosphatase
ORPHA:186	TNPO3	23534	HP:0002613	Biliary cirrhosis
ORPHA:186	TNPO3	23534	HP:0011040	Abnormality of the intrahepatic bile duct
ORPHA:186	TNPO3	23534	HP:0012115	Hepatitis
ORPHA:186	TNPO3	23534	HP:0001409	Portal hypertension
OMIM:191830	ITGA8	8516	HP:0000148	Vaginal atresia
OMIM:191830	ITGA8	8516	HP:0000786	Primary amenorrhea
OMIM:191830	ITGA8	8516	HP:0001762	Talipes equinovarus
OMIM:191830	ITGA8	8516	HP:0001562	Oligohydramnios
OMIM:191830	ITGA8	8516	HP:0000007	Autosomal recessive inheritance
OMIM:191830	ITGA8	8516	HP:0000369	Low-set ears
OMIM:191830	ITGA8	8516	HP:0001760	Abnormality of the foot
OMIM:191830	ITGA8	8516	HP:0000006	Autosomal dominant inheritance
OMIM:191830	ITGA8	8516	HP:0002089	Pulmonary hypoplasia
OMIM:191830	ITGA8	8516	HP:0000813	Bicornuate uterus
OMIM:191830	ITGA8	8516	HP:0000110	Renal dysplasia
OMIM:191830	ITGA8	8516	HP:0003577	Congenital onset
OMIM:191830	ITGA8	8516	HP:0000093	Proteinuria
OMIM:191830	ITGA8	8516	HP:0000316	Hypertelorism
OMIM:191830	ITGA8	8516	HP:0000104	Renal agenesis
OMIM:191830	ITGA8	8516	HP:0000278	Retrognathia
OMIM:191830	ITGA8	8516	HP:0002009	Potter facies
OMIM:191830	ITGA8	8516	HP:0000822	Hypertension
OMIM:610282	SEMA4A	64218	HP:0001000	Abnormality of skin pigmentation
OMIM:610282	SEMA4A	64218	HP:0000662	Nyctalopia
OMIM:610282	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:610282	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:610282	SEMA4A	64218	HP:0000618	Blindness
OMIM:610282	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:610282	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
ORPHA:33110	LRRC8A	56262	HP:0000509	Conjunctivitis
ORPHA:33110	LRRC8A	56262	HP:0001369	Arthritis
ORPHA:33110	LRRC8A	56262	HP:0000316	Hypertelorism
ORPHA:33110	LRRC8A	56262	HP:0000389	Chronic otitis media
ORPHA:33110	LRRC8A	56262	HP:0001508	Failure to thrive
ORPHA:33110	LRRC8A	56262	HP:0008572	External ear malformation
ORPHA:33110	LRRC8A	56262	HP:0012115	Hepatitis
ORPHA:33110	LRRC8A	56262	HP:0002110	Bronchiectasis
ORPHA:33110	LRRC8A	56262	HP:0000246	Sinusitis
ORPHA:33110	LRRC8A	56262	HP:0001581	Recurrent skin infections
ORPHA:33110	LRRC8A	56262	HP:0002014	Diarrhea
ORPHA:33110	LRRC8A	56262	HP:0000286	Epicanthus
ORPHA:33110	LRRC8A	56262	HP:0002024	Malabsorption
ORPHA:33110	LRRC8A	56262	HP:0100806	Sepsis
ORPHA:33110	LRRC8A	56262	HP:0002754	Osteomyelitis
ORPHA:33110	LRRC8A	56262	HP:0004432	Agammaglobulinemia
ORPHA:33110	LRRC8A	56262	HP:0002721	Immunodeficiency
ORPHA:33110	LRRC8A	56262	HP:0001944	Dehydration
ORPHA:33110	LRRC8A	56262	HP:0001287	Meningitis
ORPHA:33110	LRRC8A	56262	HP:0012378	Fatigue
ORPHA:33110	LRRC8A	56262	HP:0002205	Recurrent respiratory infections
ORPHA:33110	LRRC8A	56262	HP:0000988	Skin rash
ORPHA:33110	LRRC8A	56262	HP:0000218	High palate
ORPHA:33110	LRRC8A	56262	HP:0200043	Verrucae
ORPHA:33110	LRRC8A	56262	HP:0001875	Neutropenia
ORPHA:33110	LRRC8A	56262	HP:0001945	Fever
ORPHA:33110	LRRC8A	56262	HP:0012735	Cough
ORPHA:33110	LRRC8A	56262	HP:0100658	Cellulitis
ORPHA:1848	ITGA8	8516	HP:0100589	Urogenital fistula
ORPHA:1848	ITGA8	8516	HP:0000104	Renal agenesis
ORPHA:1848	ITGA8	8516	HP:0000457	Depressed nasal ridge
ORPHA:1848	ITGA8	8516	HP:0000286	Epicanthus
ORPHA:1848	ITGA8	8516	HP:0010497	Sirenomelia
ORPHA:1848	ITGA8	8516	HP:0000316	Hypertelorism
ORPHA:1848	ITGA8	8516	HP:0000175	Cleft palate
ORPHA:1848	ITGA8	8516	HP:0001563	Fetal polyuria
ORPHA:1848	ITGA8	8516	HP:0002242	Abnormality of the intestine
ORPHA:1848	ITGA8	8516	HP:0000369	Low-set ears
ORPHA:1848	ITGA8	8516	HP:0002575	Tracheoesophageal fistula
ORPHA:1848	ITGA8	8516	HP:0001958	Nonketotic hypoglycemia
ORPHA:1848	ITGA8	8516	HP:0002089	Pulmonary hypoplasia
ORPHA:1848	ITGA8	8516	HP:0005107	Abnormality of the sacrum
ORPHA:1848	ITGA8	8516	HP:0000008	Abnormality of female internal genitalia
ORPHA:1848	ITGA8	8516	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:1848	ITGA8	8516	HP:0100335	Non-midline cleft lip
ORPHA:1848	ITGA8	8516	HP:0001562	Oligohydramnios
ORPHA:96147	EHMT1	79813	HP:0000664	Synophrys
ORPHA:96147	EHMT1	79813	HP:0000739	Anxiety
ORPHA:96147	EHMT1	79813	HP:0001263	Global developmental delay
ORPHA:96147	EHMT1	79813	HP:0001328	Specific learning disability
ORPHA:96147	EHMT1	79813	HP:0011968	Feeding difficulties
ORPHA:96147	EHMT1	79813	HP:0000248	Brachycephaly
ORPHA:96147	EHMT1	79813	HP:0000741	Apathy
ORPHA:96147	EHMT1	79813	HP:0011097	Epileptic spasms
ORPHA:96147	EHMT1	79813	HP:0012157	Subcortical cerebral atrophy
ORPHA:96147	EHMT1	79813	HP:0001331	Absent septum pellucidum
ORPHA:96147	EHMT1	79813	HP:0001636	Tetralogy of Fallot
ORPHA:96147	EHMT1	79813	HP:0000023	Inguinal hernia
ORPHA:96147	EHMT1	79813	HP:0011800	Midface retrusion
ORPHA:96147	EHMT1	79813	HP:0100541	Femoral hernia
ORPHA:96147	EHMT1	79813	HP:0100308	Cerebral cortical hemiatrophy
ORPHA:96147	EHMT1	79813	HP:0000463	Anteverted nares
ORPHA:96147	EHMT1	79813	HP:0002300	Mutism
ORPHA:96147	EHMT1	79813	HP:0000737	Irritability
ORPHA:96147	EHMT1	79813	HP:0010529	Echolalia
ORPHA:96147	EHMT1	79813	HP:0001659	Aortic regurgitation
ORPHA:96147	EHMT1	79813	HP:0001274	Agenesis of corpus callosum
ORPHA:96147	EHMT1	79813	HP:0001650	Aortic valve stenosis
ORPHA:96147	EHMT1	79813	HP:0002121	Absence seizures
ORPHA:96147	EHMT1	79813	HP:0002133	Status epilepticus
ORPHA:96147	EHMT1	79813	HP:0000158	Macroglossia
ORPHA:96147	EHMT1	79813	HP:0001680	Coarctation of aorta
ORPHA:96147	EHMT1	79813	HP:0005469	Flat occiput
ORPHA:96147	EHMT1	79813	HP:0000232	Everted lower lip vermilion
ORPHA:96147	EHMT1	79813	HP:0002381	Aphasia
ORPHA:96147	EHMT1	79813	HP:0003196	Short nose
ORPHA:96147	EHMT1	79813	HP:0001513	Obesity
ORPHA:96147	EHMT1	79813	HP:0000365	Hearing impairment
ORPHA:96147	EHMT1	79813	HP:0001252	Muscular hypotonia
ORPHA:96147	EHMT1	79813	HP:0000076	Vesicoureteral reflux
ORPHA:96147	EHMT1	79813	HP:0002714	Downturned corners of mouth
ORPHA:96147	EHMT1	79813	HP:0000028	Cryptorchidism
ORPHA:96147	EHMT1	79813	HP:0000083	Renal insufficiency
ORPHA:96147	EHMT1	79813	HP:0002119	Ventriculomegaly
ORPHA:96147	EHMT1	79813	HP:0000717	Autism
ORPHA:96147	EHMT1	79813	HP:0002357	Dysphasia
ORPHA:96147	EHMT1	79813	HP:0001249	Intellectual disability
ORPHA:96147	EHMT1	79813	HP:0008736	Hypoplasia of penis
ORPHA:96147	EHMT1	79813	HP:0001510	Growth delay
ORPHA:96147	EHMT1	79813	HP:0001508	Failure to thrive
ORPHA:96147	EHMT1	79813	HP:0000252	Microcephaly
ORPHA:96147	EHMT1	79813	HP:0010808	Protruding tongue
ORPHA:96147	EHMT1	79813	HP:0002553	Highly arched eyebrow
ORPHA:96147	EHMT1	79813	HP:0000716	Depressivity
ORPHA:96147	EHMT1	79813	HP:0001671	Abnormal cardiac septum morphology
ORPHA:96147	EHMT1	79813	HP:0002360	Sleep disturbance
ORPHA:96147	EHMT1	79813	HP:0000316	Hypertelorism
OMIM:614434	FBLN5	10516	HP:0002650	Scoliosis
OMIM:614434	FBLN5	10516	HP:0000006	Autosomal dominant inheritance
OMIM:614434	FBLN5	10516	HP:0001653	Mitral regurgitation
OMIM:614434	FBLN5	10516	HP:0000973	Cutis laxa
OMIM:614434	FBLN5	10516	HP:0100678	Premature skin wrinkling
ORPHA:2176	ANTXR2	118429	HP:0010515	Aplasia/Hypoplasia of the thymus
ORPHA:2176	ANTXR2	118429	HP:0002983	Micromelia
ORPHA:2176	ANTXR2	118429	HP:0003510	Severe short stature
ORPHA:2176	ANTXR2	118429	HP:0002749	Osteomalacia
ORPHA:2176	ANTXR2	118429	HP:0002718	Recurrent bacterial infections
ORPHA:2176	ANTXR2	118429	HP:0200042	Skin ulcer
ORPHA:2176	ANTXR2	118429	HP:0002570	Steatorrhea
ORPHA:2176	ANTXR2	118429	HP:0011968	Feeding difficulties
ORPHA:2176	ANTXR2	118429	HP:0000470	Short neck
ORPHA:2176	ANTXR2	118429	HP:0001072	Thickened skin
ORPHA:2176	ANTXR2	118429	HP:0001387	Joint stiffness
ORPHA:2176	ANTXR2	118429	HP:0000834	Abnormality of the adrenal glands
ORPHA:2176	ANTXR2	118429	HP:0000939	Osteoporosis
ORPHA:2176	ANTXR2	118429	HP:0000212	Gingival overgrowth
ORPHA:2176	ANTXR2	118429	HP:0001004	Lymphedema
ORPHA:2176	ANTXR2	118429	HP:0002757	Recurrent fractures
ORPHA:2176	ANTXR2	118429	HP:0004279	Short palm
ORPHA:2176	ANTXR2	118429	HP:0002028	Chronic diarrhea
ORPHA:2176	ANTXR2	118429	HP:0006482	Abnormality of dental morphology
ORPHA:2176	ANTXR2	118429	HP:0001508	Failure to thrive
ORPHA:2176	ANTXR2	118429	HP:0002721	Immunodeficiency
ORPHA:2176	ANTXR2	118429	HP:0100490	Camptodactyly of finger
ORPHA:2176	ANTXR2	118429	HP:0000938	Osteopenia
ORPHA:2176	ANTXR2	118429	HP:0000147	Polycystic ovaries
ORPHA:2176	ANTXR2	118429	HP:0001482	Subcutaneous nodule
ORPHA:2176	ANTXR2	118429	HP:0100585	Telangiectasia of the skin
ORPHA:2176	ANTXR2	118429	HP:0001025	Urticaria
ORPHA:2176	ANTXR2	118429	HP:0000256	Macrocephaly
ORPHA:2176	ANTXR2	118429	HP:0001252	Muscular hypotonia
ORPHA:2176	ANTXR2	118429	HP:0001156	Brachydactyly
ORPHA:2176	ANTXR2	118429	HP:0000953	Hyperpigmentation of the skin
ORPHA:2176	ANTXR2	118429	HP:0000280	Coarse facial features
OMIM:617235	KIF5A	3798	HP:0000508	Ptosis
OMIM:617235	KIF5A	3798	HP:0000639	Nystagmus
OMIM:617235	KIF5A	3798	HP:0003577	Congenital onset
OMIM:617235	KIF5A	3798	HP:0012448	Delayed myelination
OMIM:617235	KIF5A	3798	HP:0002072	Chorea
OMIM:617235	KIF5A	3798	HP:0100704	Cortical visual impairment
OMIM:617235	KIF5A	3798	HP:0000252	Microcephaly
OMIM:617235	KIF5A	3798	HP:0002305	Athetosis
OMIM:617235	KIF5A	3798	HP:0000006	Autosomal dominant inheritance
OMIM:617235	KIF5A	3798	HP:0007281	Developmental stagnation
OMIM:617235	KIF5A	3798	HP:0011968	Feeding difficulties
OMIM:617235	KIF5A	3798	HP:0002015	Dysphagia
OMIM:617235	KIF5A	3798	HP:0001290	Generalized hypotonia
OMIM:617235	KIF5A	3798	HP:0006980	Progressive leukoencephalopathy
OMIM:194050	ELN	2006	HP:0000121	Nephrocalcinosis
OMIM:194050	ELN	2006	HP:0001629	Ventricular septal defect
OMIM:194050	ELN	2006	HP:0000819	Diabetes mellitus
OMIM:194050	ELN	2006	HP:0200021	Down-sloping shoulders
OMIM:194050	ELN	2006	HP:0002020	Gastroesophageal reflux
OMIM:194050	ELN	2006	HP:0005280	Depressed nasal bridge
OMIM:194050	ELN	2006	HP:0011800	Midface retrusion
OMIM:194050	ELN	2006	HP:0001537	Umbilical hernia
OMIM:194050	ELN	2006	HP:0010794	Impaired visuospatial constructive cognition
OMIM:194050	ELN	2006	HP:0004322	Short stature
OMIM:194050	ELN	2006	HP:0000689	Dental malocclusion
OMIM:194050	ELN	2006	HP:0010747	Medial flaring of the eyebrow
OMIM:194050	ELN	2006	HP:0000833	Glucose intolerance
OMIM:194050	ELN	2006	HP:0000939	Osteoporosis
OMIM:194050	ELN	2006	HP:0002253	Colonic diverticula
OMIM:194050	ELN	2006	HP:0003196	Short nose
OMIM:194050	ELN	2006	HP:0000125	Pelvic kidney
OMIM:194050	ELN	2006	HP:0002035	Rectal prolapse
OMIM:194050	ELN	2006	HP:0001699	Sudden death
OMIM:194050	ELN	2006	HP:0001321	Cerebellar hypoplasia
OMIM:194050	ELN	2006	HP:0001609	Hoarse voice
OMIM:194050	ELN	2006	HP:0012450	Chronic constipation
OMIM:194050	ELN	2006	HP:0000286	Epicanthus
OMIM:194050	ELN	2006	HP:0001513	Obesity
OMIM:194050	ELN	2006	HP:0000015	Bladder diverticulum
OMIM:194050	ELN	2006	HP:0000194	Open mouth
OMIM:194050	ELN	2006	HP:0000407	Sensorineural hearing impairment
OMIM:194050	ELN	2006	HP:0000403	Recurrent otitis media
OMIM:194050	ELN	2006	HP:0001631	Atrial septal defect
OMIM:194050	ELN	2006	HP:0001531	Failure to thrive in infancy
OMIM:194050	ELN	2006	HP:0000691	Microdontia
OMIM:194050	ELN	2006	HP:0001252	Muscular hypotonia
OMIM:194050	ELN	2006	HP:0000054	Micropenis
OMIM:194050	ELN	2006	HP:0001371	Flexion contracture
OMIM:194050	ELN	2006	HP:0002608	Celiac disease
OMIM:194050	ELN	2006	HP:0100000	Early onset of sexual maturation
OMIM:194050	ELN	2006	HP:0000646	Amblyopia
OMIM:194050	ELN	2006	HP:0000973	Cutis laxa
OMIM:194050	ELN	2006	HP:0000010	Recurrent urinary tract infections
OMIM:194050	ELN	2006	HP:0001290	Generalized hypotonia
OMIM:194050	ELN	2006	HP:0000601	Hypotelorism
OMIM:194050	ELN	2006	HP:0000023	Inguinal hernia
OMIM:194050	ELN	2006	HP:0002974	Radioulnar synostosis
OMIM:194050	ELN	2006	HP:0000455	Broad nasal tip
OMIM:194050	ELN	2006	HP:0001249	Intellectual disability
OMIM:194050	ELN	2006	HP:0000486	Strabismus
OMIM:194050	ELN	2006	HP:0000539	Abnormality of refraction
OMIM:194050	ELN	2006	HP:0007018	Attention deficit hyperactivity disorder
OMIM:194050	ELN	2006	HP:0000272	Malar flattening
OMIM:194050	ELN	2006	HP:0009748	Large earlobe
OMIM:194050	ELN	2006	HP:0002150	Hypercalciuria
OMIM:194050	ELN	2006	HP:0002183	Phonophobia
OMIM:194050	ELN	2006	HP:0004209	Clinodactyly of the 5th finger
OMIM:194050	ELN	2006	HP:0000293	Full cheeks
OMIM:194050	ELN	2006	HP:0005145	Coronary artery stenosis
OMIM:194050	ELN	2006	HP:0004764	Myxomatous mitral valve degeneration
OMIM:194050	ELN	2006	HP:0000629	Periorbital fullness
OMIM:194050	ELN	2006	HP:0007099	Arnold-Chiari type I malformation
OMIM:194050	ELN	2006	HP:0000089	Renal hypoplasia
OMIM:194050	ELN	2006	HP:0010780	Hyperacusis
OMIM:194050	ELN	2006	HP:0001822	Hallux valgus
OMIM:194050	ELN	2006	HP:0002019	Constipation
OMIM:194050	ELN	2006	HP:0000006	Autosomal dominant inheritance
OMIM:194050	ELN	2006	HP:0001642	Pulmonic stenosis
OMIM:194050	ELN	2006	HP:0008872	Feeding difficulties in infancy
OMIM:194050	ELN	2006	HP:0000668	Hypodontia
OMIM:194050	ELN	2006	HP:0001511	Intrauterine growth retardation
OMIM:194050	ELN	2006	HP:0008770	Obsessive-compulsive trait
OMIM:194050	ELN	2006	HP:0000938	Osteopenia
OMIM:194050	ELN	2006	HP:0001605	Vocal cord paralysis
OMIM:194050	ELN	2006	HP:0001136	Retinal arteriolar tortuosity
OMIM:194050	ELN	2006	HP:0001388	Joint laxity
OMIM:194050	ELN	2006	HP:0008661	Urethral stenosis
OMIM:194050	ELN	2006	HP:0003072	Hypercalcemia
OMIM:194050	ELN	2006	HP:0002141	Gait imbalance
OMIM:194050	ELN	2006	HP:0001920	Renal artery stenosis
OMIM:194050	ELN	2006	HP:0002751	Kyphoscoliosis
OMIM:194050	ELN	2006	HP:0002311	Incoordination
OMIM:194050	ELN	2006	HP:0000341	Narrow forehead
OMIM:194050	ELN	2006	HP:0000739	Anxiety
OMIM:194050	ELN	2006	HP:0002360	Sleep disturbance
OMIM:194050	ELN	2006	HP:0000581	Blepharophimosis
OMIM:194050	ELN	2006	HP:0000343	Long philtrum
OMIM:194050	ELN	2006	HP:0000083	Renal insufficiency
OMIM:194050	ELN	2006	HP:0001647	Bicuspid aortic valve
OMIM:194050	ELN	2006	HP:0000977	Soft skin
OMIM:194050	ELN	2006	HP:0002370	Poor coordination
OMIM:194050	ELN	2006	HP:0001347	Hyperreflexia
OMIM:194050	ELN	2006	HP:0004381	Supravalvular aortic stenosis
OMIM:194050	ELN	2006	HP:0000767	Pectus excavatum
OMIM:194050	ELN	2006	HP:0000635	Blue irides
OMIM:194050	ELN	2006	HP:0001653	Mitral regurgitation
OMIM:194050	ELN	2006	HP:0000179	Thick lower lip vermilion
OMIM:194050	ELN	2006	HP:0001792	Small nail
OMIM:194050	ELN	2006	HP:0000076	Vesicoureteral reflux
OMIM:194050	ELN	2006	HP:0000805	Enuresis
OMIM:194050	ELN	2006	HP:0001409	Portal hypertension
OMIM:194050	ELN	2006	HP:0001297	Stroke
OMIM:194050	ELN	2006	HP:0000821	Hypothyroidism
OMIM:194050	ELN	2006	HP:0002216	Premature graying of hair
OMIM:194050	ELN	2006	HP:0004969	Peripheral pulmonary artery stenosis
ORPHA:661	EDN3	1908	HP:0002093	Respiratory insufficiency
ORPHA:661	EDN3	1908	HP:0001250	Seizures
ORPHA:661	EDN3	1908	HP:0001252	Muscular hypotonia
ORPHA:661	EDN3	1908	HP:0006747	Ganglioneuroblastoma
ORPHA:661	EDN3	1908	HP:0100543	Cognitive impairment
ORPHA:661	EDN3	1908	HP:0002251	Aganglionic megacolon
ORPHA:661	EDN3	1908	HP:0003005	Ganglioneuroma
OMIM:614869	CIB2	10518	HP:0001270	Motor delay
OMIM:614869	CIB2	10518	HP:0001751	Vestibular dysfunction
OMIM:614869	CIB2	10518	HP:0003577	Congenital onset
OMIM:614869	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614869	CIB2	10518	HP:0000510	Rod-cone dystrophy
OMIM:607596	VRK1	7443	HP:0006850	Hypoplasia of the ventral pons
OMIM:607596	VRK1	7443	HP:0002093	Respiratory insufficiency
OMIM:607596	VRK1	7443	HP:0003676	Progressive
OMIM:607596	VRK1	7443	HP:0200147	Neuronal loss in basal ganglia
OMIM:607596	VRK1	7443	HP:0002380	Fasciculations
OMIM:607596	VRK1	7443	HP:0002803	Congenital contracture
OMIM:607596	VRK1	7443	HP:0007269	Spinal muscular atrophy
OMIM:607596	VRK1	7443	HP:0001324	Muscle weakness
OMIM:607596	VRK1	7443	HP:0001321	Cerebellar hypoplasia
OMIM:607596	VRK1	7443	HP:0001347	Hyperreflexia
OMIM:607596	VRK1	7443	HP:0001263	Global developmental delay
OMIM:607596	VRK1	7443	HP:0008872	Feeding difficulties in infancy
OMIM:607596	VRK1	7443	HP:0006999	Basal ganglia gliosis
OMIM:607596	VRK1	7443	HP:0001251	Ataxia
OMIM:607596	VRK1	7443	HP:0002398	Degeneration of anterior horn cells
OMIM:607596	VRK1	7443	HP:0000007	Autosomal recessive inheritance
OMIM:607596	VRK1	7443	HP:0003577	Congenital onset
OMIM:607596	VRK1	7443	HP:0001249	Intellectual disability
OMIM:607596	VRK1	7443	HP:0003445	EMG: neuropathic changes
OMIM:607596	VRK1	7443	HP:0012110	Hypoplasia of the pons
OMIM:607596	VRK1	7443	HP:0001290	Generalized hypotonia
OMIM:607596	VRK1	7443	HP:0001760	Abnormality of the foot
ORPHA:99977	RNF6	6049	HP:0002716	Lymphadenopathy
ORPHA:99977	RNF6	6049	HP:0011459	Esophageal carcinoma
ORPHA:99977	RNF6	6049	HP:0002017	Nausea and vomiting
ORPHA:99977	RNF6	6049	HP:0008872	Feeding difficulties in infancy
ORPHA:99977	RNF6	6049	HP:0100749	Chest pain
ORPHA:99977	RNF6	6049	HP:0012735	Cough
ORPHA:99977	RNF6	6049	HP:0001608	Abnormality of the voice
ORPHA:99977	RNF6	6049	HP:0001864	Clinodactyly of the 5th toe
OMIM:209880	EDN3	1908	HP:0000006	Autosomal dominant inheritance
OMIM:209880	EDN3	1908	HP:0001626	Abnormality of the cardiovascular system
OMIM:209880	EDN3	1908	HP:0007110	Central hypoventilation
OMIM:209880	EDN3	1908	HP:0004370	Abnormality of temperature regulation
OMIM:209880	EDN3	1908	HP:0000494	Downslanted palpebral fissures
OMIM:209880	EDN3	1908	HP:0000153	Abnormality of the mouth
OMIM:209880	EDN3	1908	HP:0000975	Hyperhidrosis
OMIM:209880	EDN3	1908	HP:0000358	Posteriorly rotated ears
OMIM:209880	EDN3	1908	HP:0006747	Ganglioneuroblastoma
OMIM:209880	EDN3	1908	HP:0000369	Low-set ears
OMIM:209880	EDN3	1908	HP:0002019	Constipation
OMIM:209880	EDN3	1908	HP:0003005	Ganglioneuroma
OMIM:209880	EDN3	1908	HP:0011968	Feeding difficulties
OMIM:209880	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:309500	PQBP1	10084	HP:0000486	Strabismus
OMIM:309500	PQBP1	10084	HP:0000414	Bulbous nose
OMIM:309500	PQBP1	10084	HP:0000252	Microcephaly
OMIM:309500	PQBP1	10084	HP:0001786	Narrow foot
OMIM:309500	PQBP1	10084	HP:0002650	Scoliosis
OMIM:309500	PQBP1	10084	HP:0002033	Poor suck
OMIM:309500	PQBP1	10084	HP:0000303	Mandibular prognathia
OMIM:309500	PQBP1	10084	HP:0001611	Nasal speech
OMIM:309500	PQBP1	10084	HP:0001741	Phimosis
OMIM:309500	PQBP1	10084	HP:0000618	Blindness
OMIM:309500	PQBP1	10084	HP:0001250	Seizures
OMIM:309500	PQBP1	10084	HP:0000378	Cupped ear
OMIM:309500	PQBP1	10084	HP:0000272	Malar flattening
OMIM:309500	PQBP1	10084	HP:0002059	Cerebral atrophy
OMIM:309500	PQBP1	10084	HP:0000275	Narrow face
OMIM:309500	PQBP1	10084	HP:0012385	Camptodactyly
OMIM:309500	PQBP1	10084	HP:0000518	Cataract
OMIM:309500	PQBP1	10084	HP:0000739	Anxiety
OMIM:309500	PQBP1	10084	HP:0000089	Renal hypoplasia
OMIM:309500	PQBP1	10084	HP:0004209	Clinodactyly of the 5th finger
OMIM:309500	PQBP1	10084	HP:0000365	Hearing impairment
OMIM:309500	PQBP1	10084	HP:0001419	X-linked recessive inheritance
OMIM:309500	PQBP1	10084	HP:0000286	Epicanthus
OMIM:309500	PQBP1	10084	HP:0001631	Atrial septal defect
OMIM:309500	PQBP1	10084	HP:0000767	Pectus excavatum
OMIM:309500	PQBP1	10084	HP:0000160	Narrow mouth
OMIM:309500	PQBP1	10084	HP:0009473	Joint contracture of the hand
OMIM:309500	PQBP1	10084	HP:0000589	Coloboma
OMIM:309500	PQBP1	10084	HP:0008070	Sparse hair
OMIM:309500	PQBP1	10084	HP:0000582	Upslanted palpebral fissure
OMIM:309500	PQBP1	10084	HP:0000047	Hypospadias
OMIM:309500	PQBP1	10084	HP:0000347	Micrognathia
OMIM:309500	PQBP1	10084	HP:0000325	Triangular face
OMIM:309500	PQBP1	10084	HP:0001696	Situs inversus totalis
OMIM:309500	PQBP1	10084	HP:0004322	Short stature
OMIM:309500	PQBP1	10084	HP:0000276	Long face
OMIM:309500	PQBP1	10084	HP:0000431	Wide nasal bridge
OMIM:309500	PQBP1	10084	HP:0000540	Hypermetropia
OMIM:309500	PQBP1	10084	HP:0000400	Macrotia
OMIM:309500	PQBP1	10084	HP:0005338	Sparse lateral eyebrow
OMIM:309500	PQBP1	10084	HP:0008734	Decreased testicular size
OMIM:309500	PQBP1	10084	HP:0001547	Abnormality of the rib cage
OMIM:309500	PQBP1	10084	HP:0000568	Microphthalmia
OMIM:309500	PQBP1	10084	HP:0002023	Anal atresia
OMIM:309500	PQBP1	10084	HP:0000218	High palate
OMIM:309500	PQBP1	10084	HP:0001636	Tetralogy of Fallot
OMIM:309500	PQBP1	10084	HP:0000411	Protruding ear
OMIM:309500	PQBP1	10084	HP:0001347	Hyperreflexia
OMIM:309500	PQBP1	10084	HP:0000219	Thin upper lip vermilion
OMIM:309500	PQBP1	10084	HP:0001761	Pes cavus
OMIM:309500	PQBP1	10084	HP:0000248	Brachycephaly
OMIM:309500	PQBP1	10084	HP:0000322	Short philtrum
OMIM:309500	PQBP1	10084	HP:0001257	Spasticity
OMIM:309500	PQBP1	10084	HP:0001249	Intellectual disability
OMIM:309500	PQBP1	10084	HP:0000175	Cleft palate
OMIM:309500	PQBP1	10084	HP:0001629	Ventricular septal defect
ORPHA:94089	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
ORPHA:94089	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
ORPHA:94089	GNAS	2778	HP:0005280	Depressed nasal bridge
ORPHA:94089	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
ORPHA:94089	GNAS	2778	HP:0003909	Cortical subperiosteal resorption of humeral metaphyses
ORPHA:94089	GNAS	2778	HP:0003472	Hypocalcemic tetany
ORPHA:94089	GNAS	2778	HP:0000470	Short neck
ORPHA:94089	GNAS	2778	HP:0000684	Delayed eruption of teeth
ORPHA:94089	GNAS	2778	HP:0005700	Increased bone density with cystic changes
ORPHA:94089	GNAS	2778	HP:0011458	Abdominal symptom
ORPHA:94089	GNAS	2778	HP:0100660	Dyskinesia
ORPHA:94089	GNAS	2778	HP:0000824	Growth hormone deficiency
ORPHA:94089	GNAS	2778	HP:0001657	Prolonged QT interval
ORPHA:94089	GNAS	2778	HP:0000311	Round face
ORPHA:94089	GNAS	2778	HP:0000739	Anxiety
ORPHA:94089	GNAS	2778	HP:0000509	Conjunctivitis
ORPHA:94089	GNAS	2778	HP:0100749	Chest pain
ORPHA:94089	GNAS	2778	HP:0002905	Hyperphosphatemia
ORPHA:94089	GNAS	2778	HP:0008227	Pituitary resistance to thyroid hormone
ORPHA:94089	GNAS	2778	HP:0003034	Diaphyseal sclerosis
ORPHA:94089	GNAS	2778	HP:0002094	Dyspnea
ORPHA:94089	GNAS	2778	HP:0000639	Nystagmus
ORPHA:94089	GNAS	2778	HP:0003394	Muscle cramps
ORPHA:94089	GNAS	2778	HP:0000293	Full cheeks
ORPHA:94089	GNAS	2778	HP:0000518	Cataract
ORPHA:94089	GNAS	2778	HP:0012049	Laryngeal dystonia
ORPHA:94089	GNAS	2778	HP:0000716	Depressivity
ORPHA:94089	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:94089	GNAS	2778	HP:0003739	Myoclonic spasms
ORPHA:94089	GNAS	2778	HP:0004322	Short stature
ORPHA:94089	GNAS	2778	HP:0002199	Hypocalcemic seizures
ORPHA:94089	GNAS	2778	HP:0001265	Hyporeflexia
ORPHA:94089	GNAS	2778	HP:0000737	Irritability
ORPHA:94089	GNAS	2778	HP:0003401	Paresthesia
ORPHA:71	SAR1B	51128	HP:0001284	Areflexia
ORPHA:71	SAR1B	51128	HP:0002014	Diarrhea
ORPHA:71	SAR1B	51128	HP:0003146	Hypocholesterolemia
ORPHA:71	SAR1B	51128	HP:0010831	Impaired proprioception
ORPHA:71	SAR1B	51128	HP:0100508	Abnormality of vitamin metabolism
ORPHA:71	SAR1B	51128	HP:0000488	Retinopathy
ORPHA:71	SAR1B	51128	HP:0001927	Acanthocytosis
ORPHA:71	SAR1B	51128	HP:0002570	Steatorrhea
ORPHA:71	SAR1B	51128	HP:0003270	Abdominal distention
ORPHA:71	SAR1B	51128	HP:0002013	Vomiting
ORPHA:71	SAR1B	51128	HP:0002910	Elevated hepatic transaminases
ORPHA:71	SAR1B	51128	HP:0001508	Failure to thrive
ORPHA:71	SAR1B	51128	HP:0001397	Hepatic steatosis
ORPHA:71	SAR1B	51128	HP:0000505	Visual impairment
ORPHA:71	SAR1B	51128	HP:0006565	Increased hepatocellular lipid droplets
ORPHA:71	SAR1B	51128	HP:0001510	Growth delay
ORPHA:71	SAR1B	51128	HP:0003458	EMG: myopathic abnormalities
OMIM:217095	TBX1	6899	HP:0001719	Double outlet right ventricle
OMIM:217095	TBX1	6899	HP:0010055	Broad hallux
OMIM:217095	TBX1	6899	HP:0001680	Coarctation of aorta
OMIM:217095	TBX1	6899	HP:0001669	Transposition of the great arteries
OMIM:217095	TBX1	6899	HP:0000316	Hypertelorism
OMIM:217095	TBX1	6899	HP:0001660	Truncus arteriosus
OMIM:217095	TBX1	6899	HP:0000007	Autosomal recessive inheritance
OMIM:217095	TBX1	6899	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:217095	TBX1	6899	HP:0100259	Postaxial polydactyly
OMIM:217095	TBX1	6899	HP:0001674	Complete atrioventricular canal defect
ORPHA:1646	USP9Y	8287	HP:0008734	Decreased testicular size
ORPHA:1646	USP9Y	8287	HP:0011961	Non-obstructive azoospermia
ORPHA:1646	USP9Y	8287	HP:0003251	Male infertility
ORPHA:1646	USP9Y	8287	HP:0000028	Cryptorchidism
ORPHA:1646	USP9Y	8287	HP:0000798	Oligospermia
OMIM:609637	ZIC2	7546	HP:0001360	Holoprosencephaly
OMIM:609637	ZIC2	7546	HP:0000316	Hypertelorism
OMIM:609637	ZIC2	7546	HP:0001999	Abnormal facial shape
OMIM:609637	ZIC2	7546	HP:0000006	Autosomal dominant inheritance
OMIM:609637	ZIC2	7546	HP:0000218	High palate
OMIM:609637	ZIC2	7546	HP:0000202	Oral cleft
OMIM:609637	ZIC2	7546	HP:0000238	Hydrocephalus
OMIM:609637	ZIC2	7546	HP:0005280	Depressed nasal bridge
OMIM:609637	ZIC2	7546	HP:0000243	Trigonocephaly
OMIM:609637	ZIC2	7546	HP:0000341	Narrow forehead
OMIM:609637	ZIC2	7546	HP:0000582	Upslanted palpebral fissure
OMIM:609637	ZIC2	7546	HP:0000252	Microcephaly
OMIM:609637	ZIC2	7546	HP:0000664	Synophrys
OMIM:609637	ZIC2	7546	HP:0001263	Global developmental delay
OMIM:609637	ZIC2	7546	HP:0001249	Intellectual disability
OMIM:609637	ZIC2	7546	HP:0000601	Hypotelorism
OMIM:609637	ZIC2	7546	HP:0000400	Macrotia
OMIM:613280	SLC30A10	55532	HP:0002313	Spastic paraparesis
OMIM:613280	SLC30A10	55532	HP:0001260	Dysarthria
OMIM:613280	SLC30A10	55532	HP:0001300	Parkinsonism
OMIM:613280	SLC30A10	55532	HP:0002063	Rigidity
OMIM:613280	SLC30A10	55532	HP:0001337	Tremor
OMIM:613280	SLC30A10	55532	HP:0001901	Polycythemia
OMIM:613280	SLC30A10	55532	HP:0007141	Sensorimotor neuropathy
OMIM:613280	SLC30A10	55532	HP:0002067	Bradykinesia
OMIM:613280	SLC30A10	55532	HP:0002172	Postural instability
OMIM:613280	SLC30A10	55532	HP:0001394	Cirrhosis
OMIM:613280	SLC30A10	55532	HP:0001410	Decreased liver function
OMIM:613280	SLC30A10	55532	HP:0002910	Elevated hepatic transaminases
OMIM:613280	SLC30A10	55532	HP:0007010	Poor fine motor coordination
OMIM:613280	SLC30A10	55532	HP:0003828	Variable expressivity
OMIM:613280	SLC30A10	55532	HP:0025196	Increased total iron binding capacity
OMIM:613280	SLC30A10	55532	HP:0000007	Autosomal recessive inheritance
OMIM:613280	SLC30A10	55532	HP:0001332	Dystonia
OMIM:613280	SLC30A10	55532	HP:0002240	Hepatomegaly
ORPHA:791	EYS	346007	HP:0000407	Sensorineural hearing impairment
ORPHA:791	EYS	346007	HP:0000501	Glaucoma
ORPHA:791	EYS	346007	HP:0000463	Anteverted nares
ORPHA:791	EYS	346007	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	EYS	346007	HP:0000618	Blindness
ORPHA:791	EYS	346007	HP:0008736	Hypoplasia of penis
ORPHA:791	EYS	346007	HP:0000518	Cataract
ORPHA:791	EYS	346007	HP:0000987	Atypical scarring of skin
ORPHA:791	EYS	346007	HP:0000842	Hyperinsulinemia
ORPHA:791	EYS	346007	HP:0000613	Photophobia
ORPHA:791	EYS	346007	HP:0005978	Type II diabetes mellitus
ORPHA:791	EYS	346007	HP:0001513	Obesity
ORPHA:791	EYS	346007	HP:0000035	Abnormality of the testis
ORPHA:791	EYS	346007	HP:0000639	Nystagmus
ORPHA:791	EYS	346007	HP:0007675	Progressive night blindness
ORPHA:791	EYS	346007	HP:0000135	Hypogonadism
ORPHA:791	EYS	346007	HP:0000563	Keratoconus
ORPHA:791	EYS	346007	HP:0000405	Conductive hearing impairment
ORPHA:791	EYS	346007	HP:0000512	Abnormal electroretinogram
ORPHA:791	EYS	346007	HP:0001347	Hyperreflexia
ORPHA:791	EYS	346007	HP:0000431	Wide nasal bridge
ORPHA:791	EYS	346007	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	EYS	346007	HP:0000648	Optic atrophy
ORPHA:791	EYS	346007	HP:0001249	Intellectual disability
ORPHA:791	EYS	346007	HP:0000602	Ophthalmoplegia
ORPHA:791	SAG	6295	HP:0000407	Sensorineural hearing impairment
ORPHA:791	SAG	6295	HP:0000501	Glaucoma
ORPHA:791	SAG	6295	HP:0000463	Anteverted nares
ORPHA:791	SAG	6295	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	SAG	6295	HP:0000618	Blindness
ORPHA:791	SAG	6295	HP:0008736	Hypoplasia of penis
ORPHA:791	SAG	6295	HP:0000518	Cataract
ORPHA:791	SAG	6295	HP:0000987	Atypical scarring of skin
ORPHA:791	SAG	6295	HP:0000842	Hyperinsulinemia
ORPHA:791	SAG	6295	HP:0000613	Photophobia
ORPHA:791	SAG	6295	HP:0005978	Type II diabetes mellitus
ORPHA:791	SAG	6295	HP:0001513	Obesity
ORPHA:791	SAG	6295	HP:0000035	Abnormality of the testis
ORPHA:791	SAG	6295	HP:0000639	Nystagmus
ORPHA:791	SAG	6295	HP:0007675	Progressive night blindness
ORPHA:791	SAG	6295	HP:0000135	Hypogonadism
ORPHA:791	SAG	6295	HP:0000563	Keratoconus
ORPHA:791	SAG	6295	HP:0000405	Conductive hearing impairment
ORPHA:791	SAG	6295	HP:0000512	Abnormal electroretinogram
ORPHA:791	SAG	6295	HP:0001347	Hyperreflexia
ORPHA:791	SAG	6295	HP:0000431	Wide nasal bridge
ORPHA:791	SAG	6295	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	SAG	6295	HP:0000648	Optic atrophy
ORPHA:791	SAG	6295	HP:0001249	Intellectual disability
ORPHA:791	SAG	6295	HP:0000602	Ophthalmoplegia
ORPHA:791	PDE6G	5148	HP:0000407	Sensorineural hearing impairment
ORPHA:791	PDE6G	5148	HP:0000501	Glaucoma
ORPHA:791	PDE6G	5148	HP:0000463	Anteverted nares
ORPHA:791	PDE6G	5148	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	PDE6G	5148	HP:0000618	Blindness
ORPHA:791	PDE6G	5148	HP:0008736	Hypoplasia of penis
ORPHA:791	PDE6G	5148	HP:0000518	Cataract
ORPHA:791	PDE6G	5148	HP:0000987	Atypical scarring of skin
ORPHA:791	PDE6G	5148	HP:0000842	Hyperinsulinemia
ORPHA:791	PDE6G	5148	HP:0000613	Photophobia
ORPHA:791	PDE6G	5148	HP:0005978	Type II diabetes mellitus
ORPHA:791	PDE6G	5148	HP:0001513	Obesity
ORPHA:791	PDE6G	5148	HP:0000035	Abnormality of the testis
ORPHA:791	PDE6G	5148	HP:0000639	Nystagmus
ORPHA:791	PDE6G	5148	HP:0007675	Progressive night blindness
ORPHA:791	PDE6G	5148	HP:0000135	Hypogonadism
ORPHA:791	PDE6G	5148	HP:0000563	Keratoconus
ORPHA:791	PDE6G	5148	HP:0000405	Conductive hearing impairment
ORPHA:791	PDE6G	5148	HP:0000512	Abnormal electroretinogram
ORPHA:791	PDE6G	5148	HP:0001347	Hyperreflexia
ORPHA:791	PDE6G	5148	HP:0000431	Wide nasal bridge
ORPHA:791	PDE6G	5148	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	PDE6G	5148	HP:0000648	Optic atrophy
ORPHA:791	PDE6G	5148	HP:0001249	Intellectual disability
ORPHA:791	PDE6G	5148	HP:0000602	Ophthalmoplegia
ORPHA:791	SEMA4A	64218	HP:0000407	Sensorineural hearing impairment
ORPHA:791	SEMA4A	64218	HP:0000501	Glaucoma
ORPHA:791	SEMA4A	64218	HP:0000463	Anteverted nares
ORPHA:791	SEMA4A	64218	HP:0008046	Abnormality of the retinal vasculature
ORPHA:791	SEMA4A	64218	HP:0000618	Blindness
ORPHA:791	SEMA4A	64218	HP:0008736	Hypoplasia of penis
ORPHA:791	SEMA4A	64218	HP:0000518	Cataract
ORPHA:791	SEMA4A	64218	HP:0000987	Atypical scarring of skin
ORPHA:791	SEMA4A	64218	HP:0000842	Hyperinsulinemia
ORPHA:791	SEMA4A	64218	HP:0000613	Photophobia
ORPHA:791	SEMA4A	64218	HP:0005978	Type II diabetes mellitus
ORPHA:791	SEMA4A	64218	HP:0001513	Obesity
ORPHA:791	SEMA4A	64218	HP:0000035	Abnormality of the testis
ORPHA:791	SEMA4A	64218	HP:0000639	Nystagmus
ORPHA:791	SEMA4A	64218	HP:0007675	Progressive night blindness
ORPHA:791	SEMA4A	64218	HP:0000135	Hypogonadism
ORPHA:791	SEMA4A	64218	HP:0000563	Keratoconus
ORPHA:791	SEMA4A	64218	HP:0000405	Conductive hearing impairment
ORPHA:791	SEMA4A	64218	HP:0000512	Abnormal electroretinogram
ORPHA:791	SEMA4A	64218	HP:0001347	Hyperreflexia
ORPHA:791	SEMA4A	64218	HP:0000431	Wide nasal bridge
ORPHA:791	SEMA4A	64218	HP:0007703	Abnormality of retinal pigmentation
ORPHA:791	SEMA4A	64218	HP:0000648	Optic atrophy
ORPHA:791	SEMA4A	64218	HP:0001249	Intellectual disability
ORPHA:791	SEMA4A	64218	HP:0000602	Ophthalmoplegia
ORPHA:90348	FBLN5	10516	HP:0100678	Premature skin wrinkling
ORPHA:90348	FBLN5	10516	HP:0001537	Umbilical hernia
ORPHA:90348	FBLN5	10516	HP:0000316	Hypertelorism
ORPHA:90348	FBLN5	10516	HP:0000293	Full cheeks
ORPHA:90348	FBLN5	10516	HP:0001582	Redundant skin
ORPHA:90348	FBLN5	10516	HP:0001654	Abnormal heart valve morphology
ORPHA:90348	FBLN5	10516	HP:0005692	Joint hyperflexibility
ORPHA:90348	FBLN5	10516	HP:0004942	Aortic aneurysm
ORPHA:90348	FBLN5	10516	HP:0005222	Bowel diverticulosis
ORPHA:90348	FBLN5	10516	HP:0001642	Pulmonic stenosis
ORPHA:90348	FBLN5	10516	HP:0000023	Inguinal hernia
ORPHA:90348	FBLN5	10516	HP:0002097	Emphysema
ORPHA:90348	ELN	2006	HP:0100678	Premature skin wrinkling
ORPHA:90348	ELN	2006	HP:0001537	Umbilical hernia
ORPHA:90348	ELN	2006	HP:0000316	Hypertelorism
ORPHA:90348	ELN	2006	HP:0000293	Full cheeks
ORPHA:90348	ELN	2006	HP:0001582	Redundant skin
ORPHA:90348	ELN	2006	HP:0001654	Abnormal heart valve morphology
ORPHA:90348	ELN	2006	HP:0005692	Joint hyperflexibility
ORPHA:90348	ELN	2006	HP:0004942	Aortic aneurysm
ORPHA:90348	ELN	2006	HP:0005222	Bowel diverticulosis
ORPHA:90348	ELN	2006	HP:0001642	Pulmonic stenosis
ORPHA:90348	ELN	2006	HP:0000023	Inguinal hernia
ORPHA:90348	ELN	2006	HP:0002097	Emphysema
OMIM:615284	SBF1	6305	HP:0001159	Syndactyly
OMIM:615284	SBF1	6305	HP:0000486	Strabismus
OMIM:615284	SBF1	6305	HP:0000007	Autosomal recessive inheritance
OMIM:615284	SBF1	6305	HP:0000762	Decreased nerve conduction velocity
OMIM:615284	SBF1	6305	HP:0000020	Urinary incontinence
OMIM:615284	SBF1	6305	HP:0001249	Intellectual disability
OMIM:615284	SBF1	6305	HP:0002936	Distal sensory impairment
OMIM:615284	SBF1	6305	HP:0003383	Onion bulb formation
OMIM:615284	SBF1	6305	HP:0001288	Gait disturbance
OMIM:615284	SBF1	6305	HP:0000252	Microcephaly
OMIM:615284	SBF1	6305	HP:0003676	Progressive
OMIM:615284	SBF1	6305	HP:0001284	Areflexia
OMIM:615284	SBF1	6305	HP:0012444	Brain atrophy
OMIM:615284	SBF1	6305	HP:0000602	Ophthalmoplegia
OMIM:615284	SBF1	6305	HP:0001763	Pes planus
OMIM:615284	SBF1	6305	HP:0002650	Scoliosis
OMIM:616744	TNFAIP3	7128	HP:0001878	Hemolytic anemia
OMIM:616744	TNFAIP3	7128	HP:0000988	Skin rash
OMIM:616744	TNFAIP3	7128	HP:0003493	Antinuclear antibody positivity
OMIM:616744	TNFAIP3	7128	HP:0025343	Lupus anticoagulant
OMIM:616744	TNFAIP3	7128	HP:0001873	Thrombocytopenia
OMIM:616744	TNFAIP3	7128	HP:0001954	Episodic fever
OMIM:616744	TNFAIP3	7128	HP:0012122	Anterior uveitis
OMIM:616744	TNFAIP3	7128	HP:0000155	Oral ulcer
OMIM:616744	TNFAIP3	7128	HP:0002583	Colitis
OMIM:616744	TNFAIP3	7128	HP:0003249	Genital ulcers
OMIM:616744	TNFAIP3	7128	HP:0000006	Autosomal dominant inheritance
OMIM:616744	TNFAIP3	7128	HP:0001888	Lymphopenia
OMIM:616744	TNFAIP3	7128	HP:0005764	Polyarticular arthritis
ORPHA:289916	MUT	4594	HP:0001875	Neutropenia
ORPHA:289916	MUT	4594	HP:0001510	Growth delay
ORPHA:289916	MUT	4594	HP:0002017	Nausea and vomiting
ORPHA:289916	MUT	4594	HP:0001873	Thrombocytopenia
ORPHA:289916	MUT	4594	HP:0001903	Anemia
ORPHA:289916	MUT	4594	HP:0001252	Muscular hypotonia
ORPHA:289916	MUT	4594	HP:0000124	Renal tubular dysfunction
ORPHA:289916	MUT	4594	HP:0002098	Respiratory distress
ORPHA:289916	MUT	4594	HP:0001249	Intellectual disability
ORPHA:289916	MUT	4594	HP:0001254	Lethargy
ORPHA:289916	MUT	4594	HP:0001266	Choreoathetosis
ORPHA:289916	MUT	4594	HP:0004374	Hemiplegia/hemiparesis
ORPHA:289916	MUT	4594	HP:0000648	Optic atrophy
ORPHA:289916	MUT	4594	HP:0001987	Hyperammonemia
ORPHA:289916	MUT	4594	HP:0001332	Dystonia
ORPHA:289916	MUT	4594	HP:0001259	Coma
ORPHA:289916	MUT	4594	HP:0100806	Sepsis
ORPHA:289916	MUT	4594	HP:0000083	Renal insufficiency
ORPHA:289916	MUT	4594	HP:0002240	Hepatomegaly
ORPHA:289916	MUT	4594	HP:0001263	Global developmental delay
ORPHA:289916	MUT	4594	HP:0001733	Pancreatitis
OMIM:614894	IRF8	3394	HP:0000007	Autosomal recessive inheritance
OMIM:614894	IRF8	3394	HP:0002719	Recurrent infections
OMIM:614894	IRF8	3394	HP:0001508	Failure to thrive
OMIM:614894	IRF8	3394	HP:0003593	Infantile onset
ORPHA:1872	SEMA4A	64218	HP:0000551	Abnormality of color vision
ORPHA:1872	SEMA4A	64218	HP:0000505	Visual impairment
ORPHA:1872	SEMA4A	64218	HP:0000613	Photophobia
ORPHA:1872	SEMA4A	64218	HP:0000662	Nyctalopia
ORPHA:1872	SEMA4A	64218	HP:0007703	Abnormality of retinal pigmentation
ORPHA:313892	SOX5	6660	HP:0000189	Narrow palate
ORPHA:313892	SOX5	6660	HP:0001653	Mitral regurgitation
ORPHA:313892	SOX5	6660	HP:0430028	Hyperplasia of the maxilla
ORPHA:313892	SOX5	6660	HP:0001270	Motor delay
ORPHA:313892	SOX5	6660	HP:0002007	Frontal bossing
ORPHA:313892	SOX5	6660	HP:0000648	Optic atrophy
ORPHA:313892	SOX5	6660	HP:0003316	Butterfly vertebrae
ORPHA:313892	SOX5	6660	HP:0000078	Abnormality of the genital system
ORPHA:313892	SOX5	6660	HP:0000545	Myopia
ORPHA:313892	SOX5	6660	HP:0002938	Lumbar hyperlordosis
ORPHA:313892	SOX5	6660	HP:0000577	Exotropia
ORPHA:313892	SOX5	6660	HP:0001250	Seizures
ORPHA:313892	SOX5	6660	HP:0007018	Attention deficit hyperactivity disorder
ORPHA:313892	SOX5	6660	HP:0002711	Exaggerated median tongue furrow
ORPHA:313892	SOX5	6660	HP:0000678	Dental crowding
ORPHA:313892	SOX5	6660	HP:0004691	2-3 toe syndactyly
ORPHA:313892	SOX5	6660	HP:0002020	Gastroesophageal reflux
ORPHA:313892	SOX5	6660	HP:0000750	Delayed speech and language development
ORPHA:313892	SOX5	6660	HP:0001249	Intellectual disability
ORPHA:313892	SOX5	6660	HP:0011968	Feeding difficulties
ORPHA:313892	SOX5	6660	HP:0000718	Aggressive behavior
ORPHA:313892	SOX5	6660	HP:0012443	Abnormality of brain morphology
ORPHA:313892	SOX5	6660	HP:0000733	Stereotypy
ORPHA:313892	SOX5	6660	HP:0002948	Vertebral fusion
ORPHA:313892	SOX5	6660	HP:0100716	Self-injurious behavior
ORPHA:313892	SOX5	6660	HP:0000739	Anxiety
ORPHA:313892	SOX5	6660	HP:0000768	Pectus carinatum
ORPHA:313892	SOX5	6660	HP:0001252	Muscular hypotonia
ORPHA:313892	SOX5	6660	HP:0005659	Thoracic kyphoscoliosis
ORPHA:2762	GNAS	2778	HP:0001156	Brachydactyly
ORPHA:2762	GNAS	2778	HP:0001376	Limitation of joint mobility
ORPHA:2762	GNAS	2778	HP:0002758	Osteoarthritis
ORPHA:2762	GNAS	2778	HP:0001482	Subcutaneous nodule
ORPHA:2762	GNAS	2778	HP:0002653	Bone pain
ORPHA:2762	GNAS	2778	HP:0001034	Hypermelanotic macule
ORPHA:2762	GNAS	2778	HP:0010766	Ectopic calcification
ORPHA:2762	GNAS	2778	HP:0000828	Abnormality of the parathyroid gland
ORPHA:2762	GNAS	2778	HP:0011987	Ectopic ossification in muscle tissue
ORPHA:2762	GNAS	2778	HP:0100242	Sarcoma
ORPHA:2762	GNAS	2778	HP:0200034	Papule
OMIM:604400	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:604400	TMEM43	79188	HP:0011663	Right ventricular cardiomyopathy
OMIM:604400	TMEM43	79188	HP:0001645	Sudden cardiac death
OMIM:604400	TMEM43	79188	HP:0006677	Prolonged QRS complex
OMIM:604400	TMEM43	79188	HP:0001635	Congestive heart failure
OMIM:604400	TMEM43	79188	HP:0004756	Ventricular tachycardia
OMIM:604400	TMEM43	79188	HP:0001962	Palpitations
OMIM:604400	TMEM43	79188	HP:0006682	Ventricular extrasystoles
OMIM:604400	TMEM43	79188	HP:0100749	Chest pain
OMIM:613135	SLC6A3	6531	HP:0001263	Global developmental delay
OMIM:613135	SLC6A3	6531	HP:0008936	Muscular hypotonia of the trunk
OMIM:613135	SLC6A3	6531	HP:0002194	Delayed gross motor development
OMIM:613135	SLC6A3	6531	HP:0000007	Autosomal recessive inheritance
OMIM:613135	SLC6A3	6531	HP:0100660	Dyskinesia
OMIM:613135	SLC6A3	6531	HP:0001276	Hypertonia
OMIM:613135	SLC6A3	6531	HP:0002072	Chorea
OMIM:613135	SLC6A3	6531	HP:0002019	Constipation
OMIM:613135	SLC6A3	6531	HP:0002063	Rigidity
OMIM:613135	SLC6A3	6531	HP:0002020	Gastroesophageal reflux
OMIM:613135	SLC6A3	6531	HP:0011968	Feeding difficulties
OMIM:613135	SLC6A3	6531	HP:0002451	Limb dystonia
OMIM:613135	SLC6A3	6531	HP:0007256	Abnormal pyramidal signs
OMIM:613135	SLC6A3	6531	HP:0001337	Tremor
OMIM:613135	SLC6A3	6531	HP:0003676	Progressive
OMIM:613135	SLC6A3	6531	HP:0002062	Morphological abnormality of the pyramidal tract
OMIM:613135	SLC6A3	6531	HP:0002067	Bradykinesia
OMIM:613135	SLC6A3	6531	HP:0001300	Parkinsonism
OMIM:613135	SLC6A3	6531	HP:0003593	Infantile onset
ORPHA:1980	SLC20A2	6575	HP:0002514	Cerebral calcification
ORPHA:1980	SLC20A2	6575	HP:0001933	Subcutaneous hemorrhage
ORPHA:1980	SLC20A2	6575	HP:0002119	Ventriculomegaly
ORPHA:1980	SLC20A2	6575	HP:0002269	Abnormality of neuronal migration
ORPHA:1980	SLC20A2	6575	HP:0001250	Seizures
ORPHA:1980	SLC20A2	6575	HP:0001511	Intrauterine growth retardation
ORPHA:1980	SLC20A2	6575	HP:0001873	Thrombocytopenia
ORPHA:1980	SLC20A2	6575	HP:0002240	Hepatomegaly
ORPHA:1980	SLC20A2	6575	HP:0007957	Corneal opacity
ORPHA:1980	SLC20A2	6575	HP:0000252	Microcephaly
OMIM:614893	IRF8	3394	HP:0000006	Autosomal dominant inheritance
OMIM:614893	IRF8	3394	HP:0002716	Lymphadenopathy
OMIM:614893	IRF8	3394	HP:0002719	Recurrent infections
OMIM:614893	IRF8	3394	HP:0002721	Immunodeficiency
OMIM:614082	FANCG	2189	HP:0003220	Abnormality of chromosome stability
OMIM:614082	FANCG	2189	HP:0001903	Anemia
OMIM:614082	FANCG	2189	HP:0000252	Microcephaly
OMIM:614082	FANCG	2189	HP:0007565	Multiple cafe-au-lait spots
OMIM:614082	FANCG	2189	HP:0001172	Abnormality of the thumb
OMIM:614082	FANCG	2189	HP:0001909	Leukemia
OMIM:614082	FANCG	2189	HP:0002863	Myelodysplasia
OMIM:614082	FANCG	2189	HP:0001873	Thrombocytopenia
OMIM:614082	FANCG	2189	HP:0001510	Growth delay
OMIM:614082	FANCG	2189	HP:0000568	Microphthalmia
OMIM:614082	FANCG	2189	HP:0001875	Neutropenia
OMIM:277700	WRN	7486	HP:0000444	Convex nasal ridge
OMIM:277700	WRN	7486	HP:0005177	Premature arteriosclerosis
OMIM:277700	WRN	7486	HP:0000518	Cataract
OMIM:277700	WRN	7486	HP:0000546	Retinal degeneration
OMIM:277700	WRN	7486	HP:0000135	Hypogonadism
OMIM:277700	WRN	7486	HP:0000939	Osteoporosis
OMIM:277700	WRN	7486	HP:0005328	Progeroid facial appearance
OMIM:277700	WRN	7486	HP:0004322	Short stature
OMIM:277700	WRN	7486	HP:0007618	Subcutaneous calcification
OMIM:277700	WRN	7486	HP:0001595	Abnormality of the hair
OMIM:277700	WRN	7486	HP:0002669	Osteosarcoma
OMIM:277700	WRN	7486	HP:0002858	Meningioma
OMIM:277700	WRN	7486	HP:0000819	Diabetes mellitus
OMIM:277700	WRN	7486	HP:0000007	Autosomal recessive inheritance
ORPHA:930	NOS1	4842	HP:0002571	Achalasia
OMIM:604187	KIF5A	3798	HP:0002839	Urinary bladder sphincter dysfunction
OMIM:604187	KIF5A	3798	HP:0000020	Urinary incontinence
OMIM:604187	KIF5A	3798	HP:0003676	Progressive
OMIM:604187	KIF5A	3798	HP:0001300	Parkinsonism
OMIM:604187	KIF5A	3798	HP:0002650	Scoliosis
OMIM:604187	KIF5A	3798	HP:0001251	Ataxia
OMIM:604187	KIF5A	3798	HP:0002166	Impaired vibration sensation in the lower limbs
OMIM:604187	KIF5A	3798	HP:0001258	Spastic paraplegia
OMIM:604187	KIF5A	3798	HP:0011448	Ankle clonus
OMIM:604187	KIF5A	3798	HP:0001761	Pes cavus
OMIM:604187	KIF5A	3798	HP:0003812	Phenotypic variability
OMIM:604187	KIF5A	3798	HP:0000012	Urinary urgency
OMIM:604187	KIF5A	3798	HP:0002064	Spastic gait
OMIM:604187	KIF5A	3798	HP:0003487	Babinski sign
OMIM:604187	KIF5A	3798	HP:0002936	Distal sensory impairment
OMIM:604187	KIF5A	3798	HP:0001347	Hyperreflexia
OMIM:604187	KIF5A	3798	HP:0000006	Autosomal dominant inheritance
OMIM:604187	KIF5A	3798	HP:0011449	Knee clonus
OMIM:604187	KIF5A	3798	HP:0007340	Lower limb muscle weakness
ORPHA:352723	LYST	1130	HP:0001249	Intellectual disability
ORPHA:352723	LYST	1130	HP:0000421	Epistaxis
ORPHA:352723	LYST	1130	HP:0002205	Recurrent respiratory infections
ORPHA:352723	LYST	1130	HP:0000978	Bruising susceptibility
ORPHA:352723	LYST	1130	HP:0001276	Hypertonia
ORPHA:352723	LYST	1130	HP:0002071	Abnormality of extrapyramidal motor function
ORPHA:352723	LYST	1130	HP:0009830	Peripheral neuropathy
ORPHA:352723	LYST	1130	HP:0200042	Skin ulcer
ORPHA:352723	LYST	1130	HP:0002311	Incoordination
ORPHA:352723	LYST	1130	HP:0000225	Gingival bleeding
ORPHA:352723	LYST	1130	HP:0001107	Ocular albinism
ORPHA:352723	LYST	1130	HP:0007513	Generalized hypopigmentation
ORPHA:352723	LYST	1130	HP:0001928	Abnormality of coagulation
ORPHA:352723	LYST	1130	HP:0002721	Immunodeficiency
ORPHA:352723	LYST	1130	HP:0100022	Abnormality of movement
ORPHA:75496	B3GALT6	126792	HP:0000256	Macrocephaly
ORPHA:75496	B3GALT6	126792	HP:0000028	Cryptorchidism
ORPHA:75496	B3GALT6	126792	HP:0002652	Skeletal dysplasia
ORPHA:75496	B3GALT6	126792	HP:0001999	Abnormal facial shape
ORPHA:75496	B3GALT6	126792	HP:0001075	Atrophic scars
ORPHA:75496	B3GALT6	126792	HP:0001166	Arachnodactyly
ORPHA:75496	B3GALT6	126792	HP:0004322	Short stature
ORPHA:75496	B3GALT6	126792	HP:0000286	Epicanthus
ORPHA:75496	B3GALT6	126792	HP:0000653	Sparse eyelashes
ORPHA:75496	B3GALT6	126792	HP:0003202	Skeletal muscle atrophy
ORPHA:75496	B3GALT6	126792	HP:0001000	Abnormality of skin pigmentation
ORPHA:75496	B3GALT6	126792	HP:0006481	Abnormality of primary teeth
ORPHA:75496	B3GALT6	126792	HP:0000506	Telecanthus
ORPHA:75496	B3GALT6	126792	HP:0000938	Osteopenia
ORPHA:75496	B3GALT6	126792	HP:0010511	Long toe
ORPHA:75496	B3GALT6	126792	HP:0002209	Sparse scalp hair
ORPHA:75496	B3GALT6	126792	HP:0000535	Sparse and thin eyebrow
ORPHA:75496	B3GALT6	126792	HP:0000963	Thin skin
ORPHA:75496	B3GALT6	126792	HP:0001263	Global developmental delay
ORPHA:75496	B3GALT6	126792	HP:0001371	Flexion contracture
ORPHA:75496	B3GALT6	126792	HP:0005328	Progeroid facial appearance
ORPHA:75496	B3GALT6	126792	HP:0001252	Muscular hypotonia
ORPHA:75496	B3GALT6	126792	HP:0001763	Pes planus
ORPHA:75496	B3GALT6	126792	HP:0000973	Cutis laxa
ORPHA:75496	B3GALT6	126792	HP:0000230	Gingivitis
ORPHA:75496	B3GALT6	126792	HP:0005692	Joint hyperflexibility
ORPHA:75496	B3GALT6	126792	HP:0007469	Palmoplantar cutis gyrata
ORPHA:75496	B3GALT6	126792	HP:0000160	Narrow mouth
ORPHA:75496	B3GALT6	126792	HP:0002751	Kyphoscoliosis
ORPHA:75496	B3GALT6	126792	HP:0100813	Testicular torsion
ORPHA:75496	B3GALT6	126792	HP:0001650	Aortic valve stenosis
ORPHA:75496	B3GALT6	126792	HP:0000974	Hyperextensible skin
ORPHA:75496	B3GALT6	126792	HP:0009125	Lipodystrophy
ORPHA:75496	B3GALT6	126792	HP:0001642	Pulmonic stenosis
ORPHA:75496	B3GALT6	126792	HP:0000431	Wide nasal bridge
ORPHA:79443	GNAS	2778	HP:0004438	Hyperostosis frontalis interna
ORPHA:79443	GNAS	2778	HP:0000739	Anxiety
ORPHA:79443	GNAS	2778	HP:0005280	Depressed nasal bridge
ORPHA:79443	GNAS	2778	HP:0000824	Growth hormone deficiency
ORPHA:79443	GNAS	2778	HP:0003761	Calcinosis
ORPHA:79443	GNAS	2778	HP:0011986	Ectopic ossification
ORPHA:79443	GNAS	2778	HP:0001249	Intellectual disability
ORPHA:79443	GNAS	2778	HP:0000486	Strabismus
ORPHA:79443	GNAS	2778	HP:0002905	Hyperphosphatemia
ORPHA:79443	GNAS	2778	HP:0002135	Basal ganglia calcification
ORPHA:79443	GNAS	2778	HP:0006960	Choroid plexus calcification
ORPHA:79443	GNAS	2778	HP:0001289	Confusion
ORPHA:79443	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
ORPHA:79443	GNAS	2778	HP:0012185	Constrictive median neuropathy
ORPHA:79443	GNAS	2778	HP:0008202	Prolactin deficiency
ORPHA:79443	GNAS	2778	HP:0100749	Chest pain
ORPHA:79443	GNAS	2778	HP:0000470	Short neck
ORPHA:79443	GNAS	2778	HP:0011001	Increased bone mineral density
ORPHA:79443	GNAS	2778	HP:0000311	Round face
ORPHA:79443	GNAS	2778	HP:0010041	Short 3rd metacarpal
ORPHA:79443	GNAS	2778	HP:0001156	Brachydactyly
ORPHA:79443	GNAS	2778	HP:0003528	Elevated calcitonin
ORPHA:79443	GNAS	2778	HP:0010047	Short 5th metacarpal
ORPHA:79443	GNAS	2778	HP:0000509	Conjunctivitis
ORPHA:79443	GNAS	2778	HP:0001265	Hyporeflexia
ORPHA:79443	GNAS	2778	HP:0002176	Spinal cord compression
ORPHA:79443	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:79443	GNAS	2778	HP:0003472	Hypocalcemic tetany
ORPHA:79443	GNAS	2778	HP:0011458	Abdominal symptom
ORPHA:79443	GNAS	2778	HP:0010027	Broad 1st metacarpal
ORPHA:79443	GNAS	2778	HP:0003739	Myoclonic spasms
ORPHA:79443	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
ORPHA:79443	GNAS	2778	HP:0000639	Nystagmus
ORPHA:79443	GNAS	2778	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:79443	GNAS	2778	HP:0000293	Full cheeks
ORPHA:79443	GNAS	2778	HP:0000822	Hypertension
ORPHA:79443	GNAS	2778	HP:0000716	Depressivity
ORPHA:79443	GNAS	2778	HP:0010044	Short 4th metacarpal
ORPHA:79443	GNAS	2778	HP:0002199	Hypocalcemic seizures
ORPHA:79443	GNAS	2778	HP:0025027	Osteoma cutis
ORPHA:79443	GNAS	2778	HP:0004704	Short fifth metatarsal
ORPHA:79443	GNAS	2778	HP:0000407	Sensorineural hearing impairment
ORPHA:79443	GNAS	2778	HP:0001657	Prolonged QT interval
ORPHA:79443	GNAS	2778	HP:0002094	Dyspnea
ORPHA:79443	GNAS	2778	HP:0000585	Band keratopathy
ORPHA:79443	GNAS	2778	HP:0003394	Muscle cramps
ORPHA:79443	GNAS	2778	HP:0000737	Irritability
ORPHA:79443	GNAS	2778	HP:0001513	Obesity
ORPHA:79443	GNAS	2778	HP:0000518	Cataract
ORPHA:79443	GNAS	2778	HP:0001266	Choreoathetosis
ORPHA:79443	GNAS	2778	HP:0004349	Reduced bone mineral density
ORPHA:79443	GNAS	2778	HP:0003401	Paresthesia
ORPHA:79443	GNAS	2778	HP:0009642	Broad distal phalanx of the thumb
ORPHA:79443	GNAS	2778	HP:0011869	Abnormal platelet function
ORPHA:79443	GNAS	2778	HP:0012049	Laryngeal dystonia
ORPHA:79443	GNAS	2778	HP:0000684	Delayed eruption of teeth
ORPHA:79443	GNAS	2778	HP:0002591	Polyphagia
ORPHA:79443	GNAS	2778	HP:0008227	Pituitary resistance to thyroid hormone
ORPHA:79443	GNAS	2778	HP:0002684	Thickened calvaria
ORPHA:79443	GNAS	2778	HP:0000876	Oligomenorrhea
ORPHA:79443	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
ORPHA:79443	GNAS	2778	HP:0004322	Short stature
OMIM:300653	PGK1	5230	HP:0000750	Delayed speech and language development
OMIM:300653	PGK1	5230	HP:0001878	Hemolytic anemia
OMIM:300653	PGK1	5230	HP:0003201	Rhabdomyolysis
OMIM:300653	PGK1	5230	HP:0001250	Seizures
OMIM:300653	PGK1	5230	HP:0000572	Visual loss
OMIM:300653	PGK1	5230	HP:0003812	Phenotypic variability
OMIM:300653	PGK1	5230	HP:0001419	X-linked recessive inheritance
OMIM:300653	PGK1	5230	HP:0000083	Renal insufficiency
OMIM:300653	PGK1	5230	HP:0001923	Reticulocytosis
OMIM:300653	PGK1	5230	HP:0001263	Global developmental delay
OMIM:300653	PGK1	5230	HP:0001249	Intellectual disability
OMIM:300653	PGK1	5230	HP:0000712	Emotional lability
OMIM:300653	PGK1	5230	HP:0003546	Exercise intolerance
OMIM:300653	PGK1	5230	HP:0008305	Exercise-induced myoglobinuria
OMIM:300653	PGK1	5230	HP:0002076	Migraine
OMIM:300653	PGK1	5230	HP:0000556	Retinal dystrophy
OMIM:300653	PGK1	5230	HP:0003198	Myopathy
OMIM:300653	PGK1	5230	HP:0003710	Exercise-induced muscle cramps
OMIM:300653	PGK1	5230	HP:0001251	Ataxia
OMIM:251255	RBBP8	5932	HP:0002943	Thoracic scoliosis
OMIM:251255	RBBP8	5932	HP:0011451	Congenital microcephaly
OMIM:251255	RBBP8	5932	HP:0000278	Retrognathia
OMIM:251255	RBBP8	5932	HP:0000718	Aggressive behavior
OMIM:251255	RBBP8	5932	HP:0004692	4-5 toe syndactyly
OMIM:251255	RBBP8	5932	HP:0006216	Single interphalangeal crease of fifth finger
OMIM:251255	RBBP8	5932	HP:0000007	Autosomal recessive inheritance
OMIM:251255	RBBP8	5932	HP:0000448	Prominent nose
OMIM:251255	RBBP8	5932	HP:0001249	Intellectual disability
OMIM:251255	RBBP8	5932	HP:0005780	Absent fourth finger distal interphalangeal crease
OMIM:251255	RBBP8	5932	HP:0004220	Short middle phalanx of the 5th finger
OMIM:251255	RBBP8	5932	HP:0001822	Hallux valgus
OMIM:609439	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609439	CIB2	10518	HP:0011476	Profound sensorineural hearing impairment
OMIM:609439	CIB2	10518	HP:0001751	Vestibular dysfunction
ORPHA:79444	GNAS	2778	HP:0000876	Oligomenorrhea
ORPHA:79444	GNAS	2778	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:79444	GNAS	2778	HP:0011458	Abdominal symptom
ORPHA:79444	GNAS	2778	HP:0001513	Obesity
ORPHA:79444	GNAS	2778	HP:0009642	Broad distal phalanx of the thumb
ORPHA:79444	GNAS	2778	HP:0000293	Full cheeks
ORPHA:79444	GNAS	2778	HP:0008202	Prolactin deficiency
ORPHA:79444	GNAS	2778	HP:0000639	Nystagmus
ORPHA:79444	GNAS	2778	HP:0003472	Hypocalcemic tetany
ORPHA:79444	GNAS	2778	HP:0003739	Myoclonic spasms
ORPHA:79444	GNAS	2778	HP:0001249	Intellectual disability
ORPHA:79444	GNAS	2778	HP:0002094	Dyspnea
ORPHA:79444	GNAS	2778	HP:0002591	Polyphagia
ORPHA:79444	GNAS	2778	HP:0008227	Pituitary resistance to thyroid hormone
ORPHA:79444	GNAS	2778	HP:0003394	Muscle cramps
ORPHA:79444	GNAS	2778	HP:0001289	Confusion
ORPHA:79444	GNAS	2778	HP:0100749	Chest pain
ORPHA:79444	GNAS	2778	HP:0000684	Delayed eruption of teeth
ORPHA:79444	GNAS	2778	HP:0002199	Hypocalcemic seizures
ORPHA:79444	GNAS	2778	HP:0001156	Brachydactyly
ORPHA:79444	GNAS	2778	HP:0000311	Round face
ORPHA:79444	GNAS	2778	HP:0010047	Short 5th metacarpal
ORPHA:79444	GNAS	2778	HP:0004704	Short fifth metatarsal
ORPHA:79444	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
ORPHA:79444	GNAS	2778	HP:0004322	Short stature
ORPHA:79444	GNAS	2778	HP:0003761	Calcinosis
ORPHA:79444	GNAS	2778	HP:0000739	Anxiety
ORPHA:79444	GNAS	2778	HP:0025027	Osteoma cutis
ORPHA:79444	GNAS	2778	HP:0001657	Prolonged QT interval
ORPHA:79444	GNAS	2778	HP:0001265	Hyporeflexia
ORPHA:79444	GNAS	2778	HP:0002135	Basal ganglia calcification
ORPHA:79444	GNAS	2778	HP:0000518	Cataract
ORPHA:79444	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
ORPHA:79444	GNAS	2778	HP:0011986	Ectopic ossification
ORPHA:79444	GNAS	2778	HP:0005280	Depressed nasal bridge
ORPHA:79444	GNAS	2778	HP:0000716	Depressivity
ORPHA:79444	GNAS	2778	HP:0010041	Short 3rd metacarpal
ORPHA:79444	GNAS	2778	HP:0011001	Increased bone mineral density
ORPHA:79444	GNAS	2778	HP:0012049	Laryngeal dystonia
ORPHA:79444	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
ORPHA:79444	GNAS	2778	HP:0002905	Hyperphosphatemia
ORPHA:79444	GNAS	2778	HP:0003401	Paresthesia
ORPHA:79444	GNAS	2778	HP:0000737	Irritability
ORPHA:79444	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
ORPHA:79444	GNAS	2778	HP:0000824	Growth hormone deficiency
ORPHA:79444	GNAS	2778	HP:0012185	Constrictive median neuropathy
ORPHA:79444	GNAS	2778	HP:0000509	Conjunctivitis
ORPHA:79444	GNAS	2778	HP:0006960	Choroid plexus calcification
ORPHA:79444	GNAS	2778	HP:0010044	Short 4th metacarpal
ORPHA:79444	GNAS	2778	HP:0000470	Short neck
OMIM:168500	MSX2	4488	HP:0000175	Cleft palate
OMIM:168500	MSX2	4488	HP:0002315	Headache
OMIM:168500	MSX2	4488	HP:0001250	Seizures
OMIM:168500	MSX2	4488	HP:0002084	Encephalocele
OMIM:168500	MSX2	4488	HP:0002695	Symmetrical, oval parietal bone defects
OMIM:168500	MSX2	4488	HP:0002697	Parietal foramina
OMIM:168500	MSX2	4488	HP:0001425	Heterogeneous
OMIM:168500	MSX2	4488	HP:0007385	Aplasia cutis congenita of scalp
OMIM:168500	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:168500	MSX2	4488	HP:0000204	Cleft upper lip
OMIM:615396	MYBPC3	4607	HP:0030682	Left ventricular noncompaction
OMIM:615396	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:607091	B4GALT1	2683	HP:0001290	Generalized hypotonia
OMIM:607091	B4GALT1	2683	HP:0001928	Abnormality of coagulation
OMIM:607091	B4GALT1	2683	HP:0000256	Macrocephaly
OMIM:607091	B4GALT1	2683	HP:0003198	Myopathy
OMIM:607091	B4GALT1	2683	HP:0001305	Dandy-Walker malformation
OMIM:607091	B4GALT1	2683	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607091	B4GALT1	2683	HP:0001263	Global developmental delay
OMIM:607091	B4GALT1	2683	HP:0000007	Autosomal recessive inheritance
OMIM:604377	SCO2	9997	HP:0002490	Increased CSF lactate
OMIM:604377	SCO2	9997	HP:0002529	Neuronal loss in central nervous system
OMIM:604377	SCO2	9997	HP:0001522	Death in infancy
OMIM:604377	SCO2	9997	HP:0003128	Lactic acidosis
OMIM:604377	SCO2	9997	HP:0002098	Respiratory distress
OMIM:604377	SCO2	9997	HP:0002151	Increased serum lactate
OMIM:604377	SCO2	9997	HP:0007941	Limited extraocular movements
OMIM:604377	SCO2	9997	HP:0003577	Congenital onset
OMIM:604377	SCO2	9997	HP:0000007	Autosomal recessive inheritance
OMIM:604377	SCO2	9997	HP:0001290	Generalized hypotonia
OMIM:604377	SCO2	9997	HP:0008872	Feeding difficulties in infancy
OMIM:604377	SCO2	9997	HP:0001639	Hypertrophic cardiomyopathy
OMIM:604377	SCO2	9997	HP:0006999	Basal ganglia gliosis
OMIM:604377	SCO2	9997	HP:0001263	Global developmental delay
OMIM:612462	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:612462	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:612462	GNAS	2778	HP:0000684	Delayed eruption of teeth
OMIM:612462	GNAS	2778	HP:0010743	Short metatarsal
OMIM:612462	GNAS	2778	HP:0002135	Basal ganglia calcification
OMIM:612462	GNAS	2778	HP:0005280	Depressed nasal bridge
OMIM:612462	GNAS	2778	HP:0006960	Choroid plexus calcification
OMIM:612462	GNAS	2778	HP:0001156	Brachydactyly
OMIM:612462	GNAS	2778	HP:0000821	Hypothyroidism
OMIM:612462	GNAS	2778	HP:0000518	Cataract
OMIM:612462	GNAS	2778	HP:0000639	Nystagmus
OMIM:612462	GNAS	2778	HP:0000293	Full cheeks
OMIM:612462	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:612462	GNAS	2778	HP:0006297	Hypoplasia of dental enamel
OMIM:612462	GNAS	2778	HP:0000135	Hypogonadism
OMIM:612462	GNAS	2778	HP:0000311	Round face
OMIM:612462	GNAS	2778	HP:0000470	Short neck
OMIM:612462	GNAS	2778	HP:0001513	Obesity
OMIM:612462	GNAS	2778	HP:0000939	Osteoporosis
OMIM:612462	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:612462	GNAS	2778	HP:0010049	Short metacarpal
OMIM:612462	GNAS	2778	HP:0001249	Intellectual disability
OMIM:612462	GNAS	2778	HP:0100543	Cognitive impairment
OMIM:612462	GNAS	2778	HP:0001250	Seizures
OMIM:612462	GNAS	2778	HP:0003472	Hypocalcemic tetany
OMIM:612462	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:612462	GNAS	2778	HP:0004322	Short stature
ORPHA:251510	SRY	6736	HP:0000786	Primary amenorrhea
ORPHA:251510	SRY	6736	HP:0002225	Sparse pubic hair
ORPHA:251510	SRY	6736	HP:0100779	Urogenital sinus anomaly
ORPHA:251510	SRY	6736	HP:0008726	Hypoplasia of the vagina
ORPHA:251510	SRY	6736	HP:0000868	Decreased fertility in females
ORPHA:251510	SRY	6736	HP:0000846	Adrenal insufficiency
ORPHA:251510	SRY	6736	HP:0008187	Absence of secondary sex characteristics
ORPHA:251510	SRY	6736	HP:0008665	Clitoral hypertrophy
ORPHA:251510	SRY	6736	HP:0000100	Nephrotic syndrome
ORPHA:251510	SRY	6736	HP:0000058	Abnormality of the labia
ORPHA:251510	SRY	6736	HP:0000062	Ambiguous genitalia
ORPHA:251510	SRY	6736	HP:0008214	Decreased serum estradiol
ORPHA:251510	SRY	6736	HP:0002215	Sparse axillary hair
ORPHA:251510	SRY	6736	HP:0012870	Vanishing testis
ORPHA:251510	SRY	6736	HP:0000823	Delayed puberty
ORPHA:251510	SRY	6736	HP:0000149	Ovarian gonadoblastoma
ORPHA:251510	SRY	6736	HP:0008232	Elevated circulating follicle stimulating hormone level
ORPHA:251510	SRY	6736	HP:0008193	Primary gonadal insufficiency
ORPHA:251510	SRY	6736	HP:0030680	Abnormality of cardiovascular system morphology
ORPHA:251510	SRY	6736	HP:0000030	Testicular gonadoblastoma
ORPHA:251510	SRY	6736	HP:0003251	Male infertility
ORPHA:251510	SRY	6736	HP:0000027	Azoospermia
ORPHA:251510	SRY	6736	HP:0000771	Gynecomastia
ORPHA:251510	SRY	6736	HP:0000939	Osteoporosis
ORPHA:251510	SRY	6736	HP:0008730	Female external genitalia in individual with 46,XY karyotype
ORPHA:251510	SRY	6736	HP:0012244	Abnormal sex determination
ORPHA:251510	SRY	6736	HP:0000047	Hypospadias
ORPHA:251510	SRY	6736	HP:0000054	Micropenis
ORPHA:251510	SRY	6736	HP:0002667	Nephroblastoma
ORPHA:251510	SRY	6736	HP:0008230	Decreased testosterone in males
ORPHA:251510	SRY	6736	HP:0002750	Delayed skeletal maturation
ORPHA:251510	SRY	6736	HP:0000815	Hypergonadotropic hypogonadism
ORPHA:251510	SRY	6736	HP:0000045	Abnormality of the scrotum
ORPHA:251510	SRY	6736	HP:0010464	Streak ovary
ORPHA:251510	SRY	6736	HP:0000028	Cryptorchidism
ORPHA:251510	SRY	6736	HP:0000133	Gonadal dysgenesis
ORPHA:251510	SRY	6736	HP:0008734	Decreased testicular size
ORPHA:251510	SRY	6736	HP:0011969	Elevated circulating luteinizing hormone level
OMIM:128100	TOR1A	1861	HP:0003307	Hyperlordosis
OMIM:128100	TOR1A	1861	HP:0002808	Kyphosis
OMIM:128100	TOR1A	1861	HP:0000643	Blepharospasm
OMIM:128100	TOR1A	1861	HP:0001337	Tremor
OMIM:128100	TOR1A	1861	HP:0002650	Scoliosis
OMIM:128100	TOR1A	1861	HP:0002356	Writer's cramp
OMIM:128100	TOR1A	1861	HP:0001304	Torsion dystonia
OMIM:128100	TOR1A	1861	HP:0001276	Hypertonia
OMIM:128100	TOR1A	1861	HP:0001290	Generalized hypotonia
OMIM:128100	TOR1A	1861	HP:0002533	Abnormal posturing
OMIM:128100	TOR1A	1861	HP:0001260	Dysarthria
OMIM:128100	TOR1A	1861	HP:0000473	Torticollis
OMIM:128100	TOR1A	1861	HP:0003829	Incomplete penetrance
OMIM:128100	TOR1A	1861	HP:0000006	Autosomal dominant inheritance
OMIM:128100	TOR1A	1861	HP:0000716	Depressivity
OMIM:614087	FANCM	57697	HP:0001510	Growth delay
OMIM:614087	FANCM	57697	HP:0000007	Autosomal recessive inheritance
OMIM:614087	FANCM	57697	HP:0001903	Anemia
OMIM:614087	FANCM	57697	HP:0003220	Abnormality of chromosome stability
OMIM:260005	OPLAH	26873	HP:0004387	Enterocolitis
OMIM:260005	OPLAH	26873	HP:0040142	5-oxoprolinase deficiency
OMIM:260005	OPLAH	26873	HP:0003137	Prolinuria
OMIM:260005	OPLAH	26873	HP:0000006	Autosomal dominant inheritance
OMIM:260005	OPLAH	26873	HP:0000007	Autosomal recessive inheritance
OMIM:260005	OPLAH	26873	HP:0002014	Diarrhea
OMIM:260005	OPLAH	26873	HP:0002013	Vomiting
OMIM:260005	OPLAH	26873	HP:0008672	Calcium oxalate nephrolithiasis
OMIM:260005	OPLAH	26873	HP:0002027	Abdominal pain
OMIM:200600	TRIP11	9321	HP:0002983	Micromelia
OMIM:200600	TRIP11	9321	HP:0002984	Hypoplasia of the radius
OMIM:200600	TRIP11	9321	HP:0010660	Abnormal hand bone ossification
OMIM:200600	TRIP11	9321	HP:0000470	Short neck
OMIM:200600	TRIP11	9321	HP:0003521	Disproportionate short-trunk short stature
OMIM:200600	TRIP11	9321	HP:0001552	Barrel-shaped chest
OMIM:200600	TRIP11	9321	HP:0006489	Abnormality of the femoral metaphysis
OMIM:200600	TRIP11	9321	HP:0001538	Protuberant abdomen
OMIM:200600	TRIP11	9321	HP:0000894	Short clavicles
OMIM:200600	TRIP11	9321	HP:0000916	Broad clavicles
OMIM:200600	TRIP11	9321	HP:0000923	Beaded ribs
OMIM:200600	TRIP11	9321	HP:0001789	Hydrops fetalis
OMIM:200600	TRIP11	9321	HP:0003196	Short nose
OMIM:200600	TRIP11	9321	HP:0000882	Hypoplastic scapulae
OMIM:200600	TRIP11	9321	HP:0010675	Abnormal foot bone ossification
OMIM:200600	TRIP11	9321	HP:0000773	Short ribs
OMIM:200600	TRIP11	9321	HP:0001561	Polyhydramnios
OMIM:200600	TRIP11	9321	HP:0000463	Anteverted nares
OMIM:200600	TRIP11	9321	HP:0003826	Stillbirth
OMIM:200600	TRIP11	9321	HP:0005280	Depressed nasal bridge
OMIM:200600	TRIP11	9321	HP:0004606	Unossified vertebral bodies
OMIM:200600	TRIP11	9321	HP:0000007	Autosomal recessive inheritance
OMIM:200600	TRIP11	9321	HP:0003175	Hypoplastic ischia
OMIM:200600	TRIP11	9321	HP:0004331	Decreased skull ossification
ORPHA:57782	GNAS	2778	HP:0010734	Fibrous dysplasia of the bones
ORPHA:57782	GNAS	2778	HP:0002757	Recurrent fractures
ORPHA:57782	GNAS	2778	HP:0002652	Skeletal dysplasia
ORPHA:57782	GNAS	2778	HP:0002653	Bone pain
ORPHA:379	CYBB	1536	HP:0000992	Cutaneous photosensitivity
ORPHA:379	CYBB	1536	HP:0100533	Inflammatory abnormality of the eye
ORPHA:379	CYBB	1536	HP:0000964	Eczema
ORPHA:379	CYBB	1536	HP:0001034	Hypermelanotic macule
ORPHA:379	CYBB	1536	HP:0100806	Sepsis
ORPHA:379	CYBB	1536	HP:0000388	Otitis media
ORPHA:379	CYBB	1536	HP:0002575	Tracheoesophageal fistula
ORPHA:379	CYBB	1536	HP:0001744	Splenomegaly
ORPHA:379	CYBB	1536	HP:0100523	Liver abscess
ORPHA:379	CYBB	1536	HP:0002205	Recurrent respiratory infections
ORPHA:379	CYBB	1536	HP:0200042	Skin ulcer
ORPHA:379	CYBB	1536	HP:0006510	Chronic obstructive pulmonary disease
ORPHA:379	CYBB	1536	HP:0000230	Gingivitis
ORPHA:379	CYBB	1536	HP:0001287	Meningitis
ORPHA:379	CYBB	1536	HP:0001945	Fever
ORPHA:379	CYBB	1536	HP:0002240	Hepatomegaly
ORPHA:379	CYBB	1536	HP:0001874	Abnormality of neutrophils
ORPHA:379	CYBB	1536	HP:0002021	Pyloric stenosis
ORPHA:379	CYBB	1536	HP:0000246	Sinusitis
ORPHA:379	CYBB	1536	HP:0100721	Mediastinal lymphadenopathy
ORPHA:379	CYBB	1536	HP:0002024	Malabsorption
ORPHA:2118	HPD	3242	HP:0003607	4-Hydroxyphenylacetic aciduria
ORPHA:2118	HPD	3242	HP:0001252	Muscular hypotonia
ORPHA:2118	HPD	3242	HP:0010917	Abnormality of tyrosine metabolism
ORPHA:2118	HPD	3242	HP:0000821	Hypothyroidism
ORPHA:2118	HPD	3242	HP:0003161	4-Hydroxyphenylpyruvic aciduria
ORPHA:2118	HPD	3242	HP:0008070	Sparse hair
ORPHA:2118	HPD	3242	HP:0001508	Failure to thrive
ORPHA:2118	HPD	3242	HP:0002213	Fine hair
ORPHA:2118	HPD	3242	HP:0001942	Metabolic acidosis
OMIM:229100	FTCD	10841	HP:0001249	Intellectual disability
OMIM:229100	FTCD	10841	HP:0000007	Autosomal recessive inheritance
OMIM:229100	FTCD	10841	HP:0004821	Hypersegmentation of neutrophil nuclei
OMIM:229100	FTCD	10841	HP:0003355	Aminoaciduria
OMIM:229100	FTCD	10841	HP:0003612	Positive ferric chloride test
OMIM:229100	FTCD	10841	HP:0001510	Growth delay
OMIM:229100	FTCD	10841	HP:0001889	Megaloblastic anemia
OMIM:616248	ZBTB42	100128927	HP:0000256	Macrocephaly
OMIM:616248	ZBTB42	100128927	HP:0002803	Congenital contracture
OMIM:616248	ZBTB42	100128927	HP:0000007	Autosomal recessive inheritance
OMIM:616248	ZBTB42	100128927	HP:0001558	Decreased fetal movement
OMIM:603233	GNAS	2778	HP:0000852	Pseudohypoparathyroidism
OMIM:603233	GNAS	2778	HP:0001156	Brachydactyly
OMIM:603233	GNAS	2778	HP:0010049	Short metacarpal
OMIM:603233	GNAS	2778	HP:0002901	Hypocalcemia
OMIM:603233	GNAS	2778	HP:0003456	Low urinary cyclic AMP response to PTH administration
OMIM:603233	GNAS	2778	HP:0002905	Hyperphosphatemia
OMIM:603233	GNAS	2778	HP:0003165	Elevated circulating parathyroid hormone level
OMIM:603233	GNAS	2778	HP:0003745	Sporadic
OMIM:603233	GNAS	2778	HP:0000006	Autosomal dominant inheritance
OMIM:603233	GNAS	2778	HP:0001513	Obesity
OMIM:143890	LDLR	3949	HP:0003124	Hypercholesterolemia
OMIM:143890	LDLR	3949	HP:0001114	Xanthelasma
OMIM:143890	LDLR	3949	HP:0000006	Autosomal dominant inheritance
OMIM:143890	LDLR	3949	HP:0001084	Corneal arcus
OMIM:606217	CRELD1	78987	HP:0000006	Autosomal dominant inheritance
OMIM:606217	CRELD1	78987	HP:0004935	Pulmonary artery atresia
OMIM:606217	CRELD1	78987	HP:0003829	Incomplete penetrance
OMIM:606217	CRELD1	78987	HP:0006695	Atrioventricular canal defect
OMIM:606217	CRELD1	78987	HP:0002627	Right aortic arch with mirror image branching
OMIM:606217	CRELD1	78987	HP:0001425	Heterogeneous
OMIM:606217	CRELD1	78987	HP:0001651	Dextrocardia
OMIM:614261	STAMBP	10617	HP:0000445	Wide nose
OMIM:614261	STAMBP	10617	HP:0000076	Vesicoureteral reflux
OMIM:614261	STAMBP	10617	HP:0001285	Spastic tetraparesis
OMIM:614261	STAMBP	10617	HP:0002079	Hypoplasia of the corpus callosum
OMIM:614261	STAMBP	10617	HP:0030084	Clinodactyly
OMIM:614261	STAMBP	10617	HP:0000253	Progressive microcephaly
OMIM:614261	STAMBP	10617	HP:0001508	Failure to thrive
OMIM:614261	STAMBP	10617	HP:0011344	Severe global developmental delay
OMIM:614261	STAMBP	10617	HP:0001156	Brachydactyly
OMIM:614261	STAMBP	10617	HP:0000340	Sloping forehead
OMIM:614261	STAMBP	10617	HP:0000175	Cleft palate
OMIM:614261	STAMBP	10617	HP:0000508	Ptosis
OMIM:614261	STAMBP	10617	HP:0000648	Optic atrophy
OMIM:614261	STAMBP	10617	HP:0001792	Small nail
OMIM:614261	STAMBP	10617	HP:0003577	Congenital onset
OMIM:614261	STAMBP	10617	HP:0000316	Hypertelorism
OMIM:614261	STAMBP	10617	HP:0000365	Hearing impairment
OMIM:614261	STAMBP	10617	HP:0000007	Autosomal recessive inheritance
OMIM:614261	STAMBP	10617	HP:0001290	Generalized hypotonia
OMIM:614261	STAMBP	10617	HP:0004322	Short stature
OMIM:614261	STAMBP	10617	HP:0000327	Hypoplasia of the maxilla
OMIM:614261	STAMBP	10617	HP:0001629	Ventricular septal defect
OMIM:614261	STAMBP	10617	HP:0001667	Right ventricular hypertrophy
OMIM:614261	STAMBP	10617	HP:0012448	Delayed myelination
OMIM:614261	STAMBP	10617	HP:0000369	Low-set ears
OMIM:614261	STAMBP	10617	HP:0002059	Cerebral atrophy
OMIM:614261	STAMBP	10617	HP:0010721	Abnormal hair whorl
OMIM:614261	STAMBP	10617	HP:0009882	Short distal phalanx of finger
OMIM:614261	STAMBP	10617	HP:0001518	Small for gestational age
OMIM:614261	STAMBP	10617	HP:0001655	Patent foramen ovale
OMIM:614261	STAMBP	10617	HP:0001336	Myoclonus
OMIM:614261	STAMBP	10617	HP:0001250	Seizures
OMIM:614261	STAMBP	10617	HP:0003196	Short nose
OMIM:187950	CALR	811	HP:0000924	Abnormality of the skeletal system
OMIM:187950	CALR	811	HP:0001744	Splenomegaly
OMIM:187950	CALR	811	HP:0003540	Impaired platelet aggregation
OMIM:187950	CALR	811	HP:0000822	Hypertension
OMIM:187950	CALR	811	HP:0001428	Somatic mutation
OMIM:187950	CALR	811	HP:0001894	Thrombocytosis
OMIM:187950	CALR	811	HP:0005547	Myeloproliferative disorder
OMIM:187950	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:187950	CALR	811	HP:0001063	Acrocyanosis
OMIM:614496	CUL3	8452	HP:0008242	Pseudohypoaldosteronism
OMIM:614496	CUL3	8452	HP:0002153	Hyperkalemia
OMIM:614496	CUL3	8452	HP:0000822	Hypertension
OMIM:614496	CUL3	8452	HP:0000006	Autosomal dominant inheritance
OMIM:614496	CUL3	8452	HP:0001942	Metabolic acidosis
OMIM:614496	CUL3	8452	HP:0004918	Hyperchloremic metabolic acidosis
OMIM:614496	CUL3	8452	HP:0011423	Hyperchloremia
ORPHA:902	WRN	7486	HP:0100659	Abnormality of the cerebral vasculature
ORPHA:902	WRN	7486	HP:0000135	Hypogonadism
ORPHA:902	WRN	7486	HP:0002672	Gastrointestinal carcinoma
ORPHA:902	WRN	7486	HP:0002621	Atherosclerosis
ORPHA:902	WRN	7486	HP:0002216	Premature graying of hair
ORPHA:902	WRN	7486	HP:0007618	Subcutaneous calcification
ORPHA:902	WRN	7486	HP:0001608	Abnormality of the voice
ORPHA:902	WRN	7486	HP:0005268	Spontaneous abortion
ORPHA:902	WRN	7486	HP:0100615	Ovarian neoplasm
ORPHA:902	WRN	7486	HP:0000855	Insulin resistance
ORPHA:902	WRN	7486	HP:0000822	Hypertension
ORPHA:902	WRN	7486	HP:0000444	Convex nasal ridge
ORPHA:902	WRN	7486	HP:0003777	Pili torti
ORPHA:902	WRN	7486	HP:0001601	Laryngomalacia
ORPHA:902	WRN	7486	HP:0002209	Sparse scalp hair
ORPHA:902	WRN	7486	HP:0000869	Secondary amenorrhea
ORPHA:902	WRN	7486	HP:0002858	Meningioma
ORPHA:902	WRN	7486	HP:0001838	Rocker bottom foot
ORPHA:902	WRN	7486	HP:0008065	Aplasia/Hypoplasia of the skin
ORPHA:902	WRN	7486	HP:0000962	Hyperkeratosis
ORPHA:902	WRN	7486	HP:0012060	Acral lentiginous melanoma
ORPHA:902	WRN	7486	HP:0100585	Telangiectasia of the skin
ORPHA:902	WRN	7486	HP:0000939	Osteoporosis
ORPHA:902	WRN	7486	HP:0001387	Joint stiffness
ORPHA:902	WRN	7486	HP:0010721	Abnormal hair whorl
ORPHA:902	WRN	7486	HP:0001635	Congestive heart failure
ORPHA:902	WRN	7486	HP:0200042	Skin ulcer
ORPHA:902	WRN	7486	HP:0100649	Neoplasm of the oral cavity
ORPHA:902	WRN	7486	HP:0010468	Aplasia/Hypoplasia of the testes
ORPHA:902	WRN	7486	HP:0000144	Decreased fertility
ORPHA:902	WRN	7486	HP:0002890	Thyroid carcinoma
ORPHA:902	WRN	7486	HP:0000934	Chondrocalcinosis
ORPHA:902	WRN	7486	HP:0200055	Small hand
ORPHA:902	WRN	7486	HP:0003002	Breast carcinoma
ORPHA:902	WRN	7486	HP:0100578	Lipoatrophy
ORPHA:902	WRN	7486	HP:0002211	White forelock
ORPHA:902	WRN	7486	HP:0004322	Short stature
ORPHA:902	WRN	7486	HP:0003202	Skeletal muscle atrophy
ORPHA:902	WRN	7486	HP:0004415	Pulmonary artery stenosis
ORPHA:902	WRN	7486	HP:0100833	Neoplasm of the small intestine
ORPHA:902	WRN	7486	HP:0000765	Abnormality of the thorax
ORPHA:902	WRN	7486	HP:0007703	Abnormality of retinal pigmentation
ORPHA:902	WRN	7486	HP:0001533	Slender build
ORPHA:902	WRN	7486	HP:0001658	Myocardial infarction
ORPHA:902	WRN	7486	HP:0005978	Type II diabetes mellitus
ORPHA:902	WRN	7486	HP:0002860	Squamous cell carcinoma
ORPHA:902	WRN	7486	HP:0100242	Sarcoma
ORPHA:902	WRN	7486	HP:0100526	Neoplasm of the lung
ORPHA:902	WRN	7486	HP:0000275	Narrow face
ORPHA:902	WRN	7486	HP:0011001	Increased bone mineral density
ORPHA:902	WRN	7486	HP:0000518	Cataract
ORPHA:902	WRN	7486	HP:0009726	Renal neoplasm
ORPHA:902	WRN	7486	HP:0100679	Lack of skin elasticity
OMIM:210200	MCCC1	56922	HP:0002919	Ketonuria
OMIM:210200	MCCC1	56922	HP:0008872	Feeding difficulties in infancy
OMIM:210200	MCCC1	56922	HP:0001508	Failure to thrive
OMIM:210200	MCCC1	56922	HP:0001347	Hyperreflexia
OMIM:210200	MCCC1	56922	HP:0008281	Acute hyperammonemia
OMIM:210200	MCCC1	56922	HP:0004911	Episodic metabolic acidosis
OMIM:210200	MCCC1	56922	HP:0003812	Phenotypic variability
OMIM:210200	MCCC1	56922	HP:0001263	Global developmental delay
OMIM:210200	MCCC1	56922	HP:0001290	Generalized hypotonia
OMIM:210200	MCCC1	56922	HP:0001943	Hypoglycemia
OMIM:210200	MCCC1	56922	HP:0002179	Opisthotonus
OMIM:210200	MCCC1	56922	HP:0006573	Acute hepatic steatosis
OMIM:210200	MCCC1	56922	HP:0001425	Heterogeneous
OMIM:210200	MCCC1	56922	HP:0001259	Coma
OMIM:210200	MCCC1	56922	HP:0002013	Vomiting
OMIM:210200	MCCC1	56922	HP:0000007	Autosomal recessive inheritance
OMIM:210200	MCCC1	56922	HP:0001250	Seizures
OMIM:210200	MCCC1	56922	HP:0001249	Intellectual disability
OMIM:210200	MCCC1	56922	HP:0001254	Lethargy
ORPHA:1515	IFT43	112752	HP:0002007	Frontal bossing
ORPHA:1515	IFT43	112752	HP:0000668	Hypodontia
ORPHA:1515	IFT43	112752	HP:0000944	Abnormality of the metaphysis
ORPHA:1515	IFT43	112752	HP:0001363	Craniosynostosis
ORPHA:1515	IFT43	112752	HP:0008388	Abnormal toenail morphology
ORPHA:1515	IFT43	112752	HP:0000601	Hypotelorism
ORPHA:1515	IFT43	112752	HP:0000286	Epicanthus
ORPHA:1515	IFT43	112752	HP:0000682	Abnormality of dental enamel
ORPHA:1515	IFT43	112752	HP:0000767	Pectus excavatum
ORPHA:1515	IFT43	112752	HP:0001156	Brachydactyly
ORPHA:1515	IFT43	112752	HP:0004209	Clinodactyly of the 5th finger
ORPHA:1515	IFT43	112752	HP:0005692	Joint hyperflexibility
ORPHA:1515	IFT43	112752	HP:0000939	Osteoporosis
ORPHA:1515	IFT43	112752	HP:0000269	Prominent occiput
ORPHA:1515	IFT43	112752	HP:0006101	Finger syndactyly
ORPHA:1515	IFT43	112752	HP:0008070	Sparse hair
ORPHA:1515	IFT43	112752	HP:0000940	Abnormal diaphysis morphology
ORPHA:1515	IFT43	112752	HP:0008905	Rhizomelia
ORPHA:1515	IFT43	112752	HP:0008499	High hypermetropia
ORPHA:1515	IFT43	112752	HP:0000639	Nystagmus
ORPHA:1515	IFT43	112752	HP:0000232	Everted lower lip vermilion
ORPHA:1515	IFT43	112752	HP:0000545	Myopia
ORPHA:1515	IFT43	112752	HP:0000268	Dolichocephaly
ORPHA:1515	IFT43	112752	HP:0009882	Short distal phalanx of finger
ORPHA:1515	IFT43	112752	HP:0000691	Microdontia
ORPHA:1515	IFT43	112752	HP:0000679	Taurodontia
ORPHA:1515	IFT43	112752	HP:0000463	Anteverted nares
ORPHA:1515	IFT43	112752	HP:0001231	Abnormality of the fingernails
ORPHA:1515	IFT43	112752	HP:0000774	Narrow chest
ORPHA:39041	IL2RG	3561	HP:0100840	Aplasia/Hypoplasia of the eyebrow
ORPHA:39041	IL2RG	3561	HP:0000821	Hypothyroidism
ORPHA:39041	IL2RG	3561	HP:0000989	Pruritus
ORPHA:39041	IL2RG	3561	HP:0001903	Anemia
ORPHA:39041	IL2RG	3561	HP:0002960	Autoimmunity
ORPHA:39041	IL2RG	3561	HP:0000969	Edema
ORPHA:39041	IL2RG	3561	HP:0002028	Chronic diarrhea
ORPHA:39041	IL2RG	3561	HP:0002716	Lymphadenopathy
ORPHA:39041	IL2RG	3561	HP:0001945	Fever
ORPHA:39041	IL2RG	3561	HP:0001072	Thickened skin
ORPHA:39041	IL2RG	3561	HP:0001831	Short toe
ORPHA:39041	IL2RG	3561	HP:0002665	Lymphoma
ORPHA:39041	IL2RG	3561	HP:0001880	Eosinophilia
ORPHA:39041	IL2RG	3561	HP:0004430	Severe combined immunodeficiency
ORPHA:39041	IL2RG	3561	HP:0000944	Abnormality of the metaphysis
ORPHA:39041	IL2RG	3561	HP:0001744	Splenomegaly
ORPHA:39041	IL2RG	3561	HP:0100646	Thyroiditis
ORPHA:39041	IL2RG	3561	HP:0001019	Erythroderma
ORPHA:39041	IL2RG	3561	HP:0007549	Desquamation of skin soon after birth
ORPHA:39041	IL2RG	3561	HP:0000958	Dry skin
ORPHA:39041	IL2RG	3561	HP:0004332	Abnormal lymphocyte morphology
ORPHA:39041	IL2RG	3561	HP:0100806	Sepsis
ORPHA:39041	IL2RG	3561	HP:0002240	Hepatomegaly
ORPHA:39041	IL2RG	3561	HP:0000100	Nephrotic syndrome
ORPHA:39041	IL2RG	3561	HP:0001596	Alopecia
ORPHA:39041	IL2RG	3561	HP:0001508	Failure to thrive
ORPHA:39041	IL2RG	3561	HP:0002090	Pneumonia
OMIM:188400	TBX1	6899	HP:0000646	Amblyopia
OMIM:188400	TBX1	6899	HP:0002719	Recurrent infections
OMIM:188400	TBX1	6899	HP:0000193	Bifid uvula
OMIM:188400	TBX1	6899	HP:0000647	Sclerocornea
OMIM:188400	TBX1	6899	HP:0007018	Attention deficit hyperactivity disorder
OMIM:188400	TBX1	6899	HP:0001263	Global developmental delay
OMIM:188400	TBX1	6899	HP:0000577	Exotropia
OMIM:188400	TBX1	6899	HP:0000316	Hypertelorism
OMIM:188400	TBX1	6899	HP:0000322	Short philtrum
OMIM:188400	TBX1	6899	HP:0002705	High, narrow palate
OMIM:188400	TBX1	6899	HP:0000777	Abnormality of the thymus
OMIM:188400	TBX1	6899	HP:0000565	Esotropia
OMIM:188400	TBX1	6899	HP:0000370	Abnormality of the middle ear
OMIM:188400	TBX1	6899	HP:0001513	Obesity
OMIM:188400	TBX1	6899	HP:0025312	Esophoria
OMIM:188400	TBX1	6899	HP:0000126	Hydronephrosis
OMIM:188400	TBX1	6899	HP:0001250	Seizures
OMIM:188400	TBX1	6899	HP:0100541	Femoral hernia
OMIM:188400	TBX1	6899	HP:0000369	Low-set ears
OMIM:188400	TBX1	6899	HP:0001081	Cholelithiasis
OMIM:188400	TBX1	6899	HP:0000860	Parathyroid hypoplasia
OMIM:188400	TBX1	6899	HP:0007302	Bipolar affective disorder
OMIM:188400	TBX1	6899	HP:0008211	Parathyroid agenesis
OMIM:188400	TBX1	6899	HP:0002627	Right aortic arch with mirror image branching
OMIM:188400	TBX1	6899	HP:0004322	Short stature
OMIM:188400	TBX1	6899	HP:0100753	Schizophrenia
OMIM:188400	TBX1	6899	HP:0012745	Short palpebral fissure
OMIM:188400	TBX1	6899	HP:0002650	Scoliosis
OMIM:188400	TBX1	6899	HP:0000175	Cleft palate
OMIM:188400	TBX1	6899	HP:0000347	Micrognathia
OMIM:188400	TBX1	6899	HP:0001643	Patent ductus arteriosus
OMIM:188400	TBX1	6899	HP:0001660	Truncus arteriosus
OMIM:188400	TBX1	6899	HP:0000006	Autosomal dominant inheritance
OMIM:188400	TBX1	6899	HP:0000750	Delayed speech and language development
OMIM:188400	TBX1	6899	HP:0001537	Umbilical hernia
OMIM:188400	TBX1	6899	HP:0001281	Tetany
OMIM:188400	TBX1	6899	HP:0001629	Ventricular septal defect
OMIM:188400	TBX1	6899	HP:0000821	Hypothyroidism
OMIM:188400	TBX1	6899	HP:0002901	Hypocalcemia
OMIM:188400	TBX1	6899	HP:0001051	Seborrheic dermatitis
OMIM:188400	TBX1	6899	HP:0000110	Renal dysplasia
OMIM:188400	TBX1	6899	HP:0005435	Impaired T cell function
OMIM:188400	TBX1	6899	HP:0001061	Acne
OMIM:188400	TBX1	6899	HP:0000581	Blepharophimosis
OMIM:188400	TBX1	6899	HP:0000023	Inguinal hernia
OMIM:188400	TBX1	6899	HP:0000627	Posterior embryotoxon
OMIM:188400	TBX1	6899	HP:0011611	Interrupted aortic arch
OMIM:188400	TBX1	6899	HP:0001611	Nasal speech
OMIM:188400	TBX1	6899	HP:0001328	Specific learning disability
OMIM:188400	TBX1	6899	HP:0000122	Unilateral renal agenesis
OMIM:188400	TBX1	6899	HP:0001636	Tetralogy of Fallot
OMIM:614340	LINS1	55180	HP:0001510	Growth delay
OMIM:614340	LINS1	55180	HP:0000718	Aggressive behavior
OMIM:614340	LINS1	55180	HP:0001263	Global developmental delay
OMIM:614340	LINS1	55180	HP:0000252	Microcephaly
OMIM:614340	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614340	LINS1	55180	HP:0002465	Poor speech
OMIM:614340	LINS1	55180	HP:0001347	Hyperreflexia
OMIM:614340	LINS1	55180	HP:0011800	Midface retrusion
OMIM:614340	LINS1	55180	HP:0001290	Generalized hypotonia
OMIM:614340	LINS1	55180	HP:0005280	Depressed nasal bridge
OMIM:614340	LINS1	55180	HP:0001249	Intellectual disability
ORPHA:51	SAMHD1	25939	HP:0000625	Eyelid coloboma
ORPHA:51	SAMHD1	25939	HP:0000252	Microcephaly
ORPHA:51	SAMHD1	25939	HP:0002139	Arrhinencephaly
ORPHA:51	SAMHD1	25939	HP:0001257	Spasticity
ORPHA:51	SAMHD1	25939	HP:0000508	Ptosis
ORPHA:51	SAMHD1	25939	HP:0002132	Porencephalic cyst
ORPHA:51	SAMHD1	25939	HP:0004374	Hemiplegia/hemiparesis
ORPHA:51	SAMHD1	25939	HP:0001357	Plagiocephaly
ORPHA:51	SAMHD1	25939	HP:0002187	Intellectual disability, profound
ORPHA:51	SAMHD1	25939	HP:0001250	Seizures
OMIM:614229	SYT14	255928	HP:0003677	Slow progression
OMIM:614229	SYT14	255928	HP:0001263	Global developmental delay
OMIM:614229	SYT14	255928	HP:0002015	Dysphagia
OMIM:614229	SYT14	255928	HP:0000007	Autosomal recessive inheritance
OMIM:614229	SYT14	255928	HP:0001272	Cerebellar atrophy
OMIM:614229	SYT14	255928	HP:0002078	Truncal ataxia
OMIM:614229	SYT14	255928	HP:0002070	Limb ataxia
OMIM:614229	SYT14	255928	HP:0007772	Impaired smooth pursuit
OMIM:614229	SYT14	255928	HP:0000639	Nystagmus
OMIM:614229	SYT14	255928	HP:0001260	Dysarthria
OMIM:607453	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:607453	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
ORPHA:84	FANCM	57697	HP:0012745	Short palpebral fissure
ORPHA:84	FANCM	57697	HP:0001562	Oligohydramnios
ORPHA:84	FANCM	57697	HP:0002245	Meckel diverticulum
ORPHA:84	FANCM	57697	HP:0001824	Weight loss
ORPHA:84	FANCM	57697	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCM	57697	HP:0001873	Thrombocytopenia
ORPHA:84	FANCM	57697	HP:0001347	Hyperreflexia
ORPHA:84	FANCM	57697	HP:0000639	Nystagmus
ORPHA:84	FANCM	57697	HP:0000238	Hydrocephalus
ORPHA:84	FANCM	57697	HP:0100542	Abnormal localization of kidney
ORPHA:84	FANCM	57697	HP:0001263	Global developmental delay
ORPHA:84	FANCM	57697	HP:0001763	Pes planus
ORPHA:84	FANCM	57697	HP:0000508	Ptosis
ORPHA:84	FANCM	57697	HP:0008572	External ear malformation
ORPHA:84	FANCM	57697	HP:0000028	Cryptorchidism
ORPHA:84	FANCM	57697	HP:0007565	Multiple cafe-au-lait spots
ORPHA:84	FANCM	57697	HP:0000268	Dolichocephaly
ORPHA:84	FANCM	57697	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:84	FANCM	57697	HP:0008678	Renal hypoplasia/aplasia
ORPHA:84	FANCM	57697	HP:0002119	Ventriculomegaly
ORPHA:84	FANCM	57697	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:84	FANCM	57697	HP:0100026	Arteriovenous malformation
ORPHA:84	FANCM	57697	HP:0001643	Patent ductus arteriosus
ORPHA:84	FANCM	57697	HP:0000453	Choanal atresia
ORPHA:84	FANCM	57697	HP:0100760	Clubbing of toes
ORPHA:84	FANCM	57697	HP:0000010	Recurrent urinary tract infections
ORPHA:84	FANCM	57697	HP:0001537	Umbilical hernia
ORPHA:84	FANCM	57697	HP:0001631	Atrial septal defect
ORPHA:84	FANCM	57697	HP:0000520	Proptosis
ORPHA:84	FANCM	57697	HP:0006824	Cranial nerve paralysis
ORPHA:84	FANCM	57697	HP:0000286	Epicanthus
ORPHA:84	FANCM	57697	HP:0000518	Cataract
ORPHA:84	FANCM	57697	HP:0001199	Triphalangeal thumb
ORPHA:84	FANCM	57697	HP:0001249	Intellectual disability
ORPHA:84	FANCM	57697	HP:0001679	Abnormal aortic morphology
ORPHA:84	FANCM	57697	HP:0002823	Abnormality of femur morphology
ORPHA:84	FANCM	57697	HP:0000175	Cleft palate
ORPHA:84	FANCM	57697	HP:0000252	Microcephaly
ORPHA:84	FANCM	57697	HP:0002650	Scoliosis
ORPHA:84	FANCM	57697	HP:0001511	Intrauterine growth retardation
ORPHA:84	FANCM	57697	HP:0002414	Spina bifida
ORPHA:84	FANCM	57697	HP:0002863	Myelodysplasia
ORPHA:84	FANCM	57697	HP:0001646	Abnormal aortic valve morphology
ORPHA:84	FANCM	57697	HP:0006101	Finger syndactyly
ORPHA:84	FANCM	57697	HP:0000027	Azoospermia
ORPHA:84	FANCM	57697	HP:0005344	Abnormal carotid artery morphology
ORPHA:84	FANCM	57697	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCM	57697	HP:0000135	Hypogonadism
ORPHA:84	FANCM	57697	HP:0004349	Reduced bone mineral density
ORPHA:84	FANCM	57697	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCM	57697	HP:0000324	Facial asymmetry
ORPHA:84	FANCM	57697	HP:0000483	Astigmatism
ORPHA:84	FANCM	57697	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCM	57697	HP:0000568	Microphthalmia
ORPHA:84	FANCM	57697	HP:0000486	Strabismus
ORPHA:84	FANCM	57697	HP:0000316	Hypertelorism
ORPHA:84	FANCM	57697	HP:0000813	Bicornuate uterus
ORPHA:84	FANCM	57697	HP:0002007	Frontal bossing
ORPHA:84	FANCM	57697	HP:0012041	Decreased fertility in males
ORPHA:84	FANCM	57697	HP:0003022	Hypoplasia of the ulna
ORPHA:84	FANCM	57697	HP:0000218	High palate
ORPHA:84	FANCM	57697	HP:0000340	Sloping forehead
ORPHA:84	FANCM	57697	HP:0004209	Clinodactyly of the 5th finger
ORPHA:84	FANCM	57697	HP:0100867	Duodenal stenosis
ORPHA:84	FANCM	57697	HP:0002827	Hip dislocation
ORPHA:84	FANCM	57697	HP:0001770	Toe syndactyly
ORPHA:84	FANCM	57697	HP:0006265	Aplasia/Hypoplasia of fingers
ORPHA:84	FANCM	57697	HP:0000505	Visual impairment
ORPHA:84	FANCM	57697	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCM	57697	HP:0004322	Short stature
ORPHA:84	FANCM	57697	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHA:84	FANCM	57697	HP:0000347	Micrognathia
ORPHA:84	FANCM	57697	HP:0000365	Hearing impairment
ORPHA:84	FANCM	57697	HP:0002023	Anal atresia
ORPHA:84	FANCM	57697	HP:0000072	Hydroureter
ORPHA:84	FANCM	57697	HP:0001882	Leukopenia
ORPHA:84	FANCM	57697	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCM	57697	HP:0001636	Tetralogy of Fallot
ORPHA:84	FANCM	57697	HP:0000083	Renal insufficiency
ORPHA:84	FANCM	57697	HP:0010469	Absent testis
ORPHA:84	FANCM	57697	HP:0002251	Aganglionic megacolon
ORPHA:84	FANCM	57697	HP:0002575	Tracheoesophageal fistula
ORPHA:84	FANCM	57697	HP:0001392	Abnormality of the liver
ORPHA:84	FANCM	57697	HP:0000582	Upslanted palpebral fissure
ORPHA:84	FANCM	57697	HP:0000047	Hypospadias
ORPHA:84	FANCM	57697	HP:0100587	Abnormality of the preputium
ORPHA:84	FANCM	57697	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:84	FANCG	2189	HP:0012745	Short palpebral fissure
ORPHA:84	FANCG	2189	HP:0001562	Oligohydramnios
ORPHA:84	FANCG	2189	HP:0002245	Meckel diverticulum
ORPHA:84	FANCG	2189	HP:0001824	Weight loss
ORPHA:84	FANCG	2189	HP:0005522	Pyridoxine-responsive sideroblastic anemia
ORPHA:84	FANCG	2189	HP:0001873	Thrombocytopenia
ORPHA:84	FANCG	2189	HP:0001347	Hyperreflexia
ORPHA:84	FANCG	2189	HP:0000639	Nystagmus
ORPHA:84	FANCG	2189	HP:0000238	Hydrocephalus
ORPHA:84	FANCG	2189	HP:0100542	Abnormal localization of kidney
ORPHA:84	FANCG	2189	HP:0001263	Global developmental delay
ORPHA:84	FANCG	2189	HP:0001763	Pes planus
ORPHA:84	FANCG	2189	HP:0000508	Ptosis
ORPHA:84	FANCG	2189	HP:0008572	External ear malformation
ORPHA:84	FANCG	2189	HP:0000028	Cryptorchidism
ORPHA:84	FANCG	2189	HP:0007565	Multiple cafe-au-lait spots
ORPHA:84	FANCG	2189	HP:0000268	Dolichocephaly
ORPHA:84	FANCG	2189	HP:0000864	Abnormality of the hypothalamus-pituitary axis
ORPHA:84	FANCG	2189	HP:0008678	Renal hypoplasia/aplasia
ORPHA:84	FANCG	2189	HP:0002119	Ventriculomegaly
ORPHA:84	FANCG	2189	HP:0008053	Aplasia/Hypoplasia of the iris
ORPHA:84	FANCG	2189	HP:0100026	Arteriovenous malformation
ORPHA:84	FANCG	2189	HP:0001643	Patent ductus arteriosus
ORPHA:84	FANCG	2189	HP:0000453	Choanal atresia
ORPHA:84	FANCG	2189	HP:0100760	Clubbing of toes
ORPHA:84	FANCG	2189	HP:0000010	Recurrent urinary tract infections
ORPHA:84	FANCG	2189	HP:0001537	Umbilical hernia
ORPHA:84	FANCG	2189	HP:0001631	Atrial septal defect
ORPHA:84	FANCG	2189	HP:0000520	Proptosis
ORPHA:84	FANCG	2189	HP:0006824	Cranial nerve paralysis
ORPHA:84	FANCG	2189	HP:0000286	Epicanthus
ORPHA:84	FANCG	2189	HP:0000518	Cataract
ORPHA:84	FANCG	2189	HP:0001199	Triphalangeal thumb
ORPHA:84	FANCG	2189	HP:0001249	Intellectual disability
ORPHA:84	FANCG	2189	HP:0001679	Abnormal aortic morphology
ORPHA:84	FANCG	2189	HP:0002823	Abnormality of femur morphology
ORPHA:84	FANCG	2189	HP:0000175	Cleft palate
ORPHA:84	FANCG	2189	HP:0000252	Microcephaly
ORPHA:84	FANCG	2189	HP:0002650	Scoliosis
ORPHA:84	FANCG	2189	HP:0001511	Intrauterine growth retardation
ORPHA:84	FANCG	2189	HP:0002414	Spina bifida
ORPHA:84	FANCG	2189	HP:0002863	Myelodysplasia
ORPHA:84	FANCG	2189	HP:0001646	Abnormal aortic valve morphology
ORPHA:84	FANCG	2189	HP:0006101	Finger syndactyly
ORPHA:84	FANCG	2189	HP:0000027	Azoospermia
ORPHA:84	FANCG	2189	HP:0005344	Abnormal carotid artery morphology
ORPHA:84	FANCG	2189	HP:0006501	Aplasia/Hypoplasia of the radius
ORPHA:84	FANCG	2189	HP:0000135	Hypogonadism
ORPHA:84	FANCG	2189	HP:0004349	Reduced bone mineral density
ORPHA:84	FANCG	2189	HP:0007874	Almond-shaped palpebral fissure
ORPHA:84	FANCG	2189	HP:0000324	Facial asymmetry
ORPHA:84	FANCG	2189	HP:0000483	Astigmatism
ORPHA:84	FANCG	2189	HP:0003220	Abnormality of chromosome stability
ORPHA:84	FANCG	2189	HP:0000568	Microphthalmia
ORPHA:84	FANCG	2189	HP:0000486	Strabismus
ORPHA:84	FANCG	2189	HP:0000316	Hypertelorism
ORPHA:84	FANCG	2189	HP:0000813	Bicornuate uterus
ORPHA:84	FANCG	2189	HP:0002007	Frontal bossing
ORPHA:84	FANCG	2189	HP:0012041	Decreased fertility in males
ORPHA:84	FANCG	2189	HP:0003022	Hypoplasia of the ulna
ORPHA:84	FANCG	2189	HP:0000218	High palate
ORPHA:84	FANCG	2189	HP:0000340	Sloping forehead
ORPHA:84	FANCG	2189	HP:0004209	Clinodactyly of the 5th finger
ORPHA:84	FANCG	2189	HP:0100867	Duodenal stenosis
ORPHA:84	FANCG	2189	HP:0002827	Hip dislocation
ORPHA:84	FANCG	2189	HP:0001770	Toe syndactyly
ORPHA:84	FANCG	2189	HP:0006265	Aplasia/Hypoplasia of fingers
ORPHA:84	FANCG	2189	HP:0000505	Visual impairment
ORPHA:84	FANCG	2189	HP:0001053	Hypopigmented skin patches
ORPHA:84	FANCG	2189	HP:0004322	Short stature
ORPHA:84	FANCG	2189	HP:0010293	Aplasia/Hypoplasia of the uvula
ORPHA:84	FANCG	2189	HP:0000347	Micrognathia
ORPHA:84	FANCG	2189	HP:0000365	Hearing impairment
ORPHA:84	FANCG	2189	HP:0002023	Anal atresia
ORPHA:84	FANCG	2189	HP:0000072	Hydroureter
ORPHA:84	FANCG	2189	HP:0001882	Leukopenia
ORPHA:84	FANCG	2189	HP:0007400	Irregular hyperpigmentation
ORPHA:84	FANCG	2189	HP:0001636	Tetralogy of Fallot
ORPHA:84	FANCG	2189	HP:0000083	Renal insufficiency
ORPHA:84	FANCG	2189	HP:0010469	Absent testis
ORPHA:84	FANCG	2189	HP:0002251	Aganglionic megacolon
ORPHA:84	FANCG	2189	HP:0002575	Tracheoesophageal fistula
ORPHA:84	FANCG	2189	HP:0001392	Abnormality of the liver
ORPHA:84	FANCG	2189	HP:0000582	Upslanted palpebral fissure
ORPHA:84	FANCG	2189	HP:0000047	Hypospadias
ORPHA:84	FANCG	2189	HP:0100587	Abnormality of the preputium
ORPHA:84	FANCG	2189	HP:0001639	Hypertrophic cardiomyopathy
ORPHA:65	PCYT1A	5130	HP:0004374	Hemiplegia/hemiparesis
ORPHA:65	PCYT1A	5130	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
ORPHA:65	PCYT1A	5130	HP:0012795	Abnormality of the optic disc
ORPHA:65	PCYT1A	5130	HP:0001141	Severe visual impairment
ORPHA:65	PCYT1A	5130	HP:0000512	Abnormal electroretinogram
ORPHA:65	PCYT1A	5130	HP:0000365	Hearing impairment
ORPHA:65	PCYT1A	5130	HP:0000563	Keratoconus
ORPHA:65	PCYT1A	5130	HP:0001250	Seizures
ORPHA:65	PCYT1A	5130	HP:0001263	Global developmental delay
ORPHA:65	PCYT1A	5130	HP:0002269	Abnormality of neuronal migration
ORPHA:65	PCYT1A	5130	HP:0000639	Nystagmus
ORPHA:65	PCYT1A	5130	HP:0001249	Intellectual disability
ORPHA:65	PCYT1A	5130	HP:0000518	Cataract
ORPHA:65	PCYT1A	5130	HP:0002084	Encephalocele
ORPHA:65	PCYT1A	5130	HP:0007703	Abnormality of retinal pigmentation
ORPHA:65	PCYT1A	5130	HP:0001252	Muscular hypotonia
OMIM:603736	KAT6B	23522	HP:0001249	Intellectual disability
OMIM:614302	TMEM43	79188	HP:0001662	Bradycardia
OMIM:614302	TMEM43	79188	HP:0003677	Slow progression
OMIM:614302	TMEM43	79188	HP:0003581	Adult onset
OMIM:614302	TMEM43	79188	HP:0005110	Atrial fibrillation
OMIM:614302	TMEM43	79188	HP:0007126	Proximal amyotrophy
OMIM:614302	TMEM43	79188	HP:0003701	Proximal muscle weakness
OMIM:614302	TMEM43	79188	HP:0003560	Muscular dystrophy
OMIM:614302	TMEM43	79188	HP:0000006	Autosomal dominant inheritance
OMIM:614302	TMEM43	79188	HP:0000467	Neck muscle weakness
ORPHA:79332	B4GALT1	2683	HP:0000256	Macrocephaly
ORPHA:79332	B4GALT1	2683	HP:0001305	Dandy-Walker malformation
ORPHA:79332	B4GALT1	2683	HP:0001252	Muscular hypotonia
ORPHA:79332	B4GALT1	2683	HP:0000238	Hydrocephalus
ORPHA:79332	B4GALT1	2683	HP:0003198	Myopathy
OMIM:300400	IL2RG	3561	HP:0000778	Hypoplasia of the thymus
OMIM:300400	IL2RG	3561	HP:0001419	X-linked recessive inheritance
OMIM:300400	IL2RG	3561	HP:0001508	Failure to thrive
OMIM:300400	IL2RG	3561	HP:0002028	Chronic diarrhea
OMIM:300400	IL2RG	3561	HP:0002841	Recurrent fungal infections
OMIM:300400	IL2RG	3561	HP:0002090	Pneumonia
OMIM:300400	IL2RG	3561	HP:0002240	Hepatomegaly
OMIM:300400	IL2RG	3561	HP:0009098	Chronic oral candidiasis
OMIM:300400	IL2RG	3561	HP:0004432	Agammaglobulinemia
OMIM:300400	IL2RG	3561	HP:0000988	Skin rash
OMIM:300400	IL2RG	3561	HP:0004430	Severe combined immunodeficiency
OMIM:300400	IL2RG	3561	HP:0007274	Recurrent bacterial meningitis
ORPHA:2822	SPG11	80208	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
ORPHA:2822	SPG11	80208	HP:0001315	Reduced tendon reflexes
ORPHA:2822	SPG11	80208	HP:0001249	Intellectual disability
ORPHA:2822	SPG11	80208	HP:0001152	Saccadic smooth pursuit
ORPHA:2822	SPG11	80208	HP:0001268	Mental deterioration
ORPHA:2822	SPG11	80208	HP:0009830	Peripheral neuropathy
ORPHA:2822	SPG11	80208	HP:0000639	Nystagmus
ORPHA:2822	SPG11	80208	HP:0001288	Gait disturbance
ORPHA:2822	SPG11	80208	HP:0001251	Ataxia
ORPHA:2822	SPG11	80208	HP:0001250	Seizures
ORPHA:2822	SPG11	80208	HP:0002119	Ventriculomegaly
ORPHA:2822	SPG11	80208	HP:0001260	Dysarthria
ORPHA:2822	SPG11	80208	HP:0002120	Cerebral cortical atrophy
ORPHA:2822	SPG11	80208	HP:0001347	Hyperreflexia
ORPHA:2822	SPG11	80208	HP:0001258	Spastic paraplegia
OMIM:614823	SMAD6	4091	HP:0001647	Bicuspid aortic valve
OMIM:614823	SMAD6	4091	HP:0004963	Calcification of the aorta
OMIM:614823	SMAD6	4091	HP:0000006	Autosomal dominant inheritance
OMIM:614823	SMAD6	4091	HP:0001680	Coarctation of aorta
OMIM:607855	LAMA2	3908	HP:0002536	Abnormal cortical gyration
OMIM:607855	LAMA2	3908	HP:0001249	Intellectual disability
OMIM:607855	LAMA2	3908	HP:0001290	Generalized hypotonia
OMIM:607855	LAMA2	3908	HP:0003741	Congenital muscular dystrophy
OMIM:607855	LAMA2	3908	HP:0001250	Seizures
OMIM:607855	LAMA2	3908	HP:0001371	Flexion contracture
OMIM:607855	LAMA2	3908	HP:0001284	Areflexia
OMIM:607855	LAMA2	3908	HP:0001270	Motor delay
OMIM:607855	LAMA2	3908	HP:0003236	Elevated serum creatine phosphokinase
OMIM:607855	LAMA2	3908	HP:0000602	Ophthalmoplegia
OMIM:607855	LAMA2	3908	HP:0007103	Hypointensity of cerebral white matter on MRI
OMIM:607855	LAMA2	3908	HP:0003560	Muscular dystrophy
OMIM:607855	LAMA2	3908	HP:0008872	Feeding difficulties in infancy
OMIM:607855	LAMA2	3908	HP:0002747	Respiratory insufficiency due to muscle weakness
OMIM:607855	LAMA2	3908	HP:0002751	Kyphoscoliosis
OMIM:607855	LAMA2	3908	HP:0000007	Autosomal recessive inheritance
OMIM:607855	LAMA2	3908	HP:0003577	Congenital onset
OMIM:613192	TRAPPC9	83696	HP:0000204	Cleft upper lip
OMIM:613192	TRAPPC9	83696	HP:0001956	Truncal obesity
OMIM:613192	TRAPPC9	83696	HP:0002714	Downturned corners of mouth
OMIM:613192	TRAPPC9	83696	HP:0000601	Hypotelorism
OMIM:613192	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:613192	TRAPPC9	83696	HP:0000319	Smooth philtrum
OMIM:613192	TRAPPC9	83696	HP:0000752	Hyperactivity
OMIM:613192	TRAPPC9	83696	HP:0000316	Hypertelorism
OMIM:613192	TRAPPC9	83696	HP:0000470	Short neck
OMIM:613192	TRAPPC9	83696	HP:0001250	Seizures
OMIM:613192	TRAPPC9	83696	HP:0002079	Hypoplasia of the corpus callosum
OMIM:613192	TRAPPC9	83696	HP:0000322	Short philtrum
OMIM:613192	TRAPPC9	83696	HP:0002334	Abnormality of the cerebellar vermis
OMIM:613192	TRAPPC9	83696	HP:0000431	Wide nasal bridge
OMIM:613192	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:613192	TRAPPC9	83696	HP:0000664	Synophrys
OMIM:613192	TRAPPC9	83696	HP:0003593	Infantile onset
OMIM:613192	TRAPPC9	83696	HP:0005484	Postnatal microcephaly
ORPHA:3318	CALR	811	HP:0003010	Prolonged bleeding time
ORPHA:3318	CALR	811	HP:0004936	Venous thrombosis
ORPHA:3318	CALR	811	HP:0100749	Chest pain
ORPHA:3318	CALR	811	HP:0001744	Splenomegaly
ORPHA:3318	CALR	811	HP:0002488	Acute leukemia
ORPHA:3318	CALR	811	HP:0005513	Increased megakaryocyte count
ORPHA:3318	CALR	811	HP:0002863	Myelodysplasia
ORPHA:3318	CALR	811	HP:0003401	Paresthesia
ORPHA:3318	CALR	811	HP:0004420	Arterial thrombosis
ORPHA:3318	CALR	811	HP:0100576	Amaurosis fugax
ORPHA:3318	CALR	811	HP:0001658	Myocardial infarction
ORPHA:3318	CALR	811	HP:0011875	Abnormal platelet morphology
ORPHA:3318	CALR	811	HP:0011974	Myelofibrosis
ORPHA:3318	CALR	811	HP:0002326	Transient ischemic attack
OMIM:616579	CHAMP1	283489	HP:0000297	Facial hypotonia
OMIM:616579	CHAMP1	283489	HP:0001290	Generalized hypotonia
OMIM:616579	CHAMP1	283489	HP:0000540	Hypermetropia
OMIM:616579	CHAMP1	283489	HP:0010804	Tented upper lip vermilion
OMIM:616579	CHAMP1	283489	HP:0000286	Epicanthus
OMIM:616579	CHAMP1	283489	HP:0011968	Feeding difficulties
OMIM:616579	CHAMP1	283489	HP:0000307	Pointed chin
OMIM:616579	CHAMP1	283489	HP:0000252	Microcephaly
OMIM:616579	CHAMP1	283489	HP:0002066	Gait ataxia
OMIM:616579	CHAMP1	283489	HP:0000006	Autosomal dominant inheritance
OMIM:616579	CHAMP1	283489	HP:0000232	Everted lower lip vermilion
OMIM:616579	CHAMP1	283489	HP:0000218	High palate
OMIM:616579	CHAMP1	283489	HP:0000733	Stereotypy
OMIM:616579	CHAMP1	283489	HP:0007328	Impaired pain sensation
OMIM:616579	CHAMP1	283489	HP:0000582	Upslanted palpebral fissure
OMIM:616579	CHAMP1	283489	HP:0001249	Intellectual disability
OMIM:616579	CHAMP1	283489	HP:0000276	Long face
OMIM:616579	CHAMP1	283489	HP:0001382	Joint hypermobility
OMIM:616579	CHAMP1	283489	HP:0002020	Gastroesophageal reflux
OMIM:616579	CHAMP1	283489	HP:0000369	Low-set ears
OMIM:616579	CHAMP1	283489	HP:0002205	Recurrent respiratory infections
OMIM:616579	CHAMP1	283489	HP:0003577	Congenital onset
OMIM:616579	CHAMP1	283489	HP:0000486	Strabismus
OMIM:616579	CHAMP1	283489	HP:0000322	Short philtrum
OMIM:616579	CHAMP1	283489	HP:0001263	Global developmental delay
OMIM:616579	CHAMP1	283489	HP:0000194	Open mouth
OMIM:613865	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:613865	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:157170	SIX3	6496	HP:0001321	Cerebellar hypoplasia
OMIM:157170	SIX3	6496	HP:0011800	Midface retrusion
OMIM:157170	SIX3	6496	HP:0005273	Absent nasal septal cartilage
OMIM:157170	SIX3	6496	HP:0000252	Microcephaly
OMIM:157170	SIX3	6496	HP:0001274	Agenesis of corpus callosum
OMIM:157170	SIX3	6496	HP:0000176	Submucous cleft hard palate
OMIM:157170	SIX3	6496	HP:0000272	Malar flattening
OMIM:157170	SIX3	6496	HP:0002650	Scoliosis
OMIM:157170	SIX3	6496	HP:0003829	Incomplete penetrance
OMIM:157170	SIX3	6496	HP:0006315	Single median maxillary incisor
OMIM:157170	SIX3	6496	HP:0001425	Heterogeneous
OMIM:157170	SIX3	6496	HP:0003745	Sporadic
OMIM:157170	SIX3	6496	HP:0001263	Global developmental delay
OMIM:157170	SIX3	6496	HP:0001250	Seizures
OMIM:157170	SIX3	6496	HP:0000193	Bifid uvula
OMIM:157170	SIX3	6496	HP:0001249	Intellectual disability
OMIM:157170	SIX3	6496	HP:0002019	Constipation
OMIM:157170	SIX3	6496	HP:0000601	Hypotelorism
OMIM:157170	SIX3	6496	HP:0001290	Generalized hypotonia
OMIM:157170	SIX3	6496	HP:0009914	Cyclopia
OMIM:157170	SIX3	6496	HP:0001360	Holoprosencephaly
OMIM:157170	SIX3	6496	HP:0009927	Aplasia of the nose
OMIM:157170	SIX3	6496	HP:0008501	Median cleft lip and palate
OMIM:157170	SIX3	6496	HP:0003828	Variable expressivity
OMIM:157170	SIX3	6496	HP:0000568	Microphthalmia
OMIM:157170	SIX3	6496	HP:0000835	Adrenal hypoplasia
OMIM:157170	SIX3	6496	HP:0000873	Diabetes insipidus
OMIM:157170	SIX3	6496	HP:0010626	Anterior pituitary agenesis
OMIM:157170	SIX3	6496	HP:0000006	Autosomal dominant inheritance
ORPHA:300605	SPG11	80208	HP:0003199	Decreased muscle mass
ORPHA:300605	SPG11	80208	HP:0007354	Amyotrophic lateral sclerosis
ORPHA:300605	SPG11	80208	HP:0001257	Spasticity
ORPHA:300605	SPG11	80208	HP:0002193	Pseudobulbar behavioral symptoms
ORPHA:300605	SPG11	80208	HP:0000763	Sensory neuropathy
ORPHA:300605	SPG11	80208	HP:0001347	Hyperreflexia
ORPHA:300605	SPG11	80208	HP:0002127	Abnormal upper motor neuron morphology
ORPHA:300605	SPG11	80208	HP:0001288	Gait disturbance
ORPHA:300605	SPG11	80208	HP:0000014	Abnormality of the bladder
ORPHA:300605	SPG11	80208	HP:0007256	Abnormal pyramidal signs
ORPHA:300605	SPG11	80208	HP:0001260	Dysarthria
ORPHA:300605	SPG11	80208	HP:0003457	EMG abnormality
OMIM:604757	MSX2	4488	HP:0000185	Cleft soft palate
OMIM:604757	MSX2	4488	HP:0011069	Increased number of teeth
OMIM:604757	MSX2	4488	HP:0001250	Seizures
OMIM:604757	MSX2	4488	HP:0000243	Trigonocephaly
OMIM:604757	MSX2	4488	HP:0000545	Myopia
OMIM:604757	MSX2	4488	HP:0002007	Frontal bossing
OMIM:604757	MSX2	4488	HP:0001156	Brachydactyly
OMIM:604757	MSX2	4488	HP:0001123	Visual field defect
OMIM:604757	MSX2	4488	HP:0000540	Hypermetropia
OMIM:604757	MSX2	4488	HP:0000244	Brachyturricephaly
OMIM:604757	MSX2	4488	HP:0000006	Autosomal dominant inheritance
OMIM:604757	MSX2	4488	HP:0001199	Triphalangeal thumb
OMIM:604757	MSX2	4488	HP:0002315	Headache
OMIM:604757	MSX2	4488	HP:0011318	Bicoronal synostosis
OMIM:604757	MSX2	4488	HP:0000601	Hypotelorism
OMIM:604757	MSX2	4488	HP:0011315	Unicoronal synostosis
ORPHA:90349	FBLN5	10516	HP:0000015	Bladder diverticulum
ORPHA:90349	FBLN5	10516	HP:0000508	Ptosis
ORPHA:90349	FBLN5	10516	HP:0001166	Arachnodactyly
ORPHA:90349	FBLN5	10516	HP:0005313	Arterial fibromuscular dysplasia
ORPHA:90349	FBLN5	10516	HP:0000270	Delayed cranial suture closure
ORPHA:90349	FBLN5	10516	HP:0005222	Bowel diverticulosis
ORPHA:90349	FBLN5	10516	HP:0001642	Pulmonic stenosis
ORPHA:90349	FBLN5	10516	HP:0002595	Ileus
ORPHA:90349	FBLN5	10516	HP:0002097	Emphysema
ORPHA:90349	FBLN5	10516	HP:0000010	Recurrent urinary tract infections
ORPHA:90349	FBLN5	10516	HP:0000023	Inguinal hernia
ORPHA:90349	FBLN5	10516	HP:0001582	Redundant skin
ORPHA:90349	FBLN5	10516	HP:0002645	Wormian bones
ORPHA:90349	FBLN5	10516	HP:0002757	Recurrent fractures
ORPHA:90349	FBLN5	10516	HP:0000776	Congenital diaphragmatic hernia
ORPHA:90349	FBLN5	10516	HP:0011675	Arrhythmia
ORPHA:90349	FBLN5	10516	HP:0004942	Aortic aneurysm
ORPHA:90349	FBLN5	10516	HP:0000076	Vesicoureteral reflux
ORPHA:90349	FBLN5	10516	HP:0100750	Atelectasis
ORPHA:90349	FBLN5	10516	HP:0000293	Full cheeks
ORPHA:90349	FBLN5	10516	HP:0100678	Premature skin wrinkling
ORPHA:90349	FBLN5	10516	HP:0000821	Hypothyroidism
ORPHA:90349	FBLN5	10516	HP:0100545	Arterial stenosis
ORPHA:90349	FBLN5	10516	HP:0005692	Joint hyperflexibility
ORPHA:90349	FBLN5	10516	HP:0002098	Respiratory distress
ORPHA:90349	FBLN5	10516	HP:0100877	Renal diverticulum
ORPHA:90349	FBLN5	10516	HP:0000939	Osteoporosis
ORPHA:90349	FBLN5	10516	HP:0001635	Congestive heart failure
OMIM:613693	KCNE2	9992	HP:0001645	Sudden cardiac death
OMIM:613693	KCNE2	9992	HP:0001425	Heterogeneous
OMIM:613693	KCNE2	9992	HP:0001279	Syncope
OMIM:613693	KCNE2	9992	HP:0001664	Torsade de pointes
OMIM:613693	KCNE2	9992	HP:0001657	Prolonged QT interval
OMIM:613693	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:613693	KCNE2	9992	HP:0001663	Ventricular fibrillation
OMIM:614431	CITED2	10370	HP:0000006	Autosomal dominant inheritance
OMIM:614431	CITED2	10370	HP:0011682	Perimembranous ventricular septal defect
OMIM:611277	GABRG2	2566	HP:0002373	Febrile seizures
OMIM:611277	GABRG2	2566	HP:0002069	Generalized tonic-clonic seizures
OMIM:611277	GABRG2	2566	HP:0002121	Absence seizures
OMIM:611277	GABRG2	2566	HP:0010819	Atonic seizures
OMIM:611277	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:611277	GABRG2	2566	HP:0003828	Variable expressivity
OMIM:611277	GABRG2	2566	HP:0007359	Focal seizures
OMIM:614019	NDE1	54820	HP:0001339	Lissencephaly
OMIM:614019	NDE1	54820	HP:0000007	Autosomal recessive inheritance
OMIM:614019	NDE1	54820	HP:0000252	Microcephaly
OMIM:614019	NDE1	54820	HP:0004322	Short stature
OMIM:614019	NDE1	54820	HP:0009879	Cortical gyral simplification
OMIM:614019	NDE1	54820	HP:0001276	Hypertonia
OMIM:614019	NDE1	54820	HP:0001274	Agenesis of corpus callosum
OMIM:614019	NDE1	54820	HP:0001250	Seizures
OMIM:614019	NDE1	54820	HP:0001263	Global developmental delay
OMIM:614019	NDE1	54820	HP:0001321	Cerebellar hypoplasia
OMIM:614019	NDE1	54820	HP:0002187	Intellectual disability, profound
OMIM:614019	NDE1	54820	HP:0003577	Congenital onset
ORPHA:3193	ELN	2006	HP:0004381	Supravalvular aortic stenosis
ORPHA:3193	ELN	2006	HP:0011675	Arrhythmia
ORPHA:808	RBBP8	5932	HP:0000252	Microcephaly
ORPHA:808	RBBP8	5932	HP:0005692	Joint hyperflexibility
ORPHA:808	RBBP8	5932	HP:0000494	Downslanted palpebral fissures
ORPHA:808	RBBP8	5932	HP:0000501	Glaucoma
ORPHA:808	RBBP8	5932	HP:0100543	Cognitive impairment
ORPHA:808	RBBP8	5932	HP:0000387	Absent earlobe
ORPHA:808	RBBP8	5932	HP:0002650	Scoliosis
ORPHA:808	RBBP8	5932	HP:0001852	Sandal gap
ORPHA:808	RBBP8	5932	HP:0000682	Abnormality of dental enamel
ORPHA:808	RBBP8	5932	HP:0001385	Hip dysplasia
ORPHA:808	RBBP8	5932	HP:0011342	Mild global developmental delay
ORPHA:808	RBBP8	5932	HP:0001249	Intellectual disability
ORPHA:808	RBBP8	5932	HP:0001363	Craniosynostosis
ORPHA:808	RBBP8	5932	HP:0004209	Clinodactyly of the 5th finger
ORPHA:808	RBBP8	5932	HP:0004326	Cachexia
ORPHA:808	RBBP8	5932	HP:0000444	Convex nasal ridge
ORPHA:808	RBBP8	5932	HP:0002209	Sparse scalp hair
ORPHA:808	RBBP8	5932	HP:0009804	Reduced number of teeth
ORPHA:808	RBBP8	5932	HP:0010579	Cone-shaped epiphysis
ORPHA:808	RBBP8	5932	HP:0004322	Short stature
ORPHA:808	RBBP8	5932	HP:0001511	Intrauterine growth retardation
ORPHA:808	RBBP8	5932	HP:0002750	Delayed skeletal maturation
ORPHA:808	RBBP8	5932	HP:0007495	Prematurely aged appearance
ORPHA:808	RBBP8	5932	HP:0000275	Narrow face
ORPHA:808	RBBP8	5932	HP:0000347	Micrognathia
ORPHA:85201	KAT6B	23522	HP:0000369	Low-set ears
ORPHA:85201	KAT6B	23522	HP:0000946	Hypoplastic ilia
ORPHA:85201	KAT6B	23522	HP:0002104	Apnea
ORPHA:85201	KAT6B	23522	HP:0003273	Hip contracture
ORPHA:85201	KAT6B	23522	HP:0000684	Delayed eruption of teeth
ORPHA:85201	KAT6B	23522	HP:0002213	Fine hair
ORPHA:85201	KAT6B	23522	HP:0002804	Arthrogryposis multiplex congenita
ORPHA:85201	KAT6B	23522	HP:0008665	Clitoral hypertrophy
ORPHA:85201	KAT6B	23522	HP:0000426	Prominent nasal bridge
ORPHA:85201	KAT6B	23522	HP:0000280	Coarse facial features
ORPHA:85201	KAT6B	23522	HP:0000126	Hydronephrosis
ORPHA:85201	KAT6B	23522	HP:0002209	Sparse scalp hair
ORPHA:85201	KAT6B	23522	HP:0002974	Radioulnar synostosis
ORPHA:85201	KAT6B	23522	HP:0000046	Scrotal hypoplasia
ORPHA:85201	KAT6B	23522	HP:0000347	Micrognathia
ORPHA:85201	KAT6B	23522	HP:0000003	Multicystic kidney dysplasia
ORPHA:85201	KAT6B	23522	HP:0000028	Cryptorchidism
ORPHA:85201	KAT6B	23522	HP:0003175	Hypoplastic ischia
ORPHA:85201	KAT6B	23522	HP:0002089	Pulmonary hypoplasia
ORPHA:85201	KAT6B	23522	HP:0006380	Knee flexion contracture
ORPHA:85201	KAT6B	23522	HP:0000316	Hypertelorism
ORPHA:85201	KAT6B	23522	HP:0001263	Global developmental delay
ORPHA:85201	KAT6B	23522	HP:0001762	Talipes equinovarus
ORPHA:85201	KAT6B	23522	HP:0011968	Feeding difficulties
ORPHA:85201	KAT6B	23522	HP:0000750	Delayed speech and language development
ORPHA:85201	KAT6B	23522	HP:0000365	Hearing impairment
ORPHA:85201	KAT6B	23522	HP:0001250	Seizures
ORPHA:85201	KAT6B	23522	HP:0000252	Microcephaly
ORPHA:85201	KAT6B	23522	HP:0000445	Wide nose
ORPHA:85201	KAT6B	23522	HP:0002020	Gastroesophageal reflux
ORPHA:85201	KAT6B	23522	HP:0001631	Atrial septal defect
ORPHA:85201	KAT6B	23522	HP:0006443	Patellar aplasia
ORPHA:85201	KAT6B	23522	HP:0001249	Intellectual disability
ORPHA:85201	KAT6B	23522	HP:0004322	Short stature
ORPHA:85201	KAT6B	23522	HP:0001274	Agenesis of corpus callosum
ORPHA:85201	KAT6B	23522	HP:0000343	Long philtrum
ORPHA:85201	KAT6B	23522	HP:0000448	Prominent nose
ORPHA:85201	KAT6B	23522	HP:0004279	Short palm
OMIM:219100	FBLN5	10516	HP:0000023	Inguinal hernia
OMIM:219100	FBLN5	10516	HP:0000015	Bladder diverticulum
OMIM:219100	FBLN5	10516	HP:0000007	Autosomal recessive inheritance
OMIM:219100	FBLN5	10516	HP:0001388	Joint laxity
OMIM:219100	FBLN5	10516	HP:0000252	Microcephaly
OMIM:219100	FBLN5	10516	HP:0001166	Arachnodactyly
OMIM:219100	FBLN5	10516	HP:0000776	Congenital diaphragmatic hernia
OMIM:219100	FBLN5	10516	HP:0000767	Pectus excavatum
OMIM:219100	FBLN5	10516	HP:0001548	Overgrowth
OMIM:219100	FBLN5	10516	HP:0000271	Abnormality of the face
OMIM:219100	FBLN5	10516	HP:0002097	Emphysema
OMIM:219100	FBLN5	10516	HP:0004948	Vascular tortuosity
OMIM:219100	FBLN5	10516	HP:0001425	Heterogeneous
OMIM:219100	FBLN5	10516	HP:0004381	Supravalvular aortic stenosis
OMIM:219100	FBLN5	10516	HP:0001537	Umbilical hernia
OMIM:219100	FBLN5	10516	HP:0002616	Aortic root aneurysm
OMIM:219100	FBLN5	10516	HP:0001562	Oligohydramnios
OMIM:219100	FBLN5	10516	HP:0002205	Recurrent respiratory infections
OMIM:219100	FBLN5	10516	HP:0001582	Redundant skin
OMIM:300645	CYBB	1536	HP:0001419	X-linked recessive inheritance
OMIM:300645	CYBB	1536	HP:0005428	Severe recurrent varicella
OMIM:300645	CYBB	1536	HP:0011274	Recurrent mycobacterial infections
OMIM:140350	HPD	3242	HP:0003161	4-Hydroxyphenylpyruvic aciduria
OMIM:140350	HPD	3242	HP:0001508	Failure to thrive
OMIM:140350	HPD	3242	HP:0003231	Hypertyrosinemia
OMIM:140350	HPD	3242	HP:0000006	Autosomal dominant inheritance
OMIM:140350	HPD	3242	HP:0003607	4-Hydroxyphenylacetic aciduria
OMIM:140350	HPD	3242	HP:0001942	Metabolic acidosis
OMIM:122700	CYP2A6	1548	HP:0001939	Abnormality of metabolism/homeostasis
OMIM:122700	CYP2A6	1548	HP:0001871	Abnormality of blood and blood-forming tissues
OMIM:122700	CYP2A6	1548	HP:0000006	Autosomal dominant inheritance
ORPHA:33069	GABRG2	2566	HP:0007334	Generalized tonic-clonic seizures with focal onset
ORPHA:33069	GABRG2	2566	HP:0001252	Muscular hypotonia
ORPHA:33069	GABRG2	2566	HP:0012758	Neurodevelopmental delay
ORPHA:33069	GABRG2	2566	HP:0001337	Tremor
ORPHA:33069	GABRG2	2566	HP:0025356	Pschomotor retardation
ORPHA:33069	GABRG2	2566	HP:0002353	EEG abnormality
ORPHA:33069	GABRG2	2566	HP:0002266	Focal clonic seizures
ORPHA:33069	GABRG2	2566	HP:0002373	Febrile seizures
ORPHA:33069	GABRG2	2566	HP:0002123	Generalized myoclonic seizures
ORPHA:33069	GABRG2	2566	HP:0000992	Cutaneous photosensitivity
ORPHA:33069	GABRG2	2566	HP:0002384	Focal seizures with impairment of consciousness or awareness
ORPHA:33069	GABRG2	2566	HP:0001251	Ataxia
ORPHA:33069	GABRG2	2566	HP:0011151	Obtundation status
OMIM:606346	MYO6	4646	HP:0000408	Progressive sensorineural hearing impairment
OMIM:606346	MYO6	4646	HP:0000006	Autosomal dominant inheritance
