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This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone. |\r\n| MONDO:0100526 | breast-ovarian cancer, familial, susceptibility to | |\r\n| MONDO:0100527 | dysplastic cortical hyperostosis, Kozlowski-Tsuruta type | An extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies. |\r\n| MONDO:0100528 | Hao-Fountain syndrome due to 16p13.2 microdeletion | A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. |\r\n| MONDO:0800448 | leukoencephalopathy with vanishing white matter | A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \\foamy'' aspect.\" |\r\n| MONDO:0957202 | spermatogenic failure, X-linked, 7 | |\r\n| MONDO:0957203 | intellectual developmental disorder, X-linked 111 | |\r\n| MONDO:0957204 | autoinflammation with pulmonary and cutaneous vasculitis | |\r\n| MONDO:0957208 | pituitary hormone deficiency, combined or isolated, 8 | |\r\n| MONDO:0957210 | neurooculorenal syndrome | |\r\n| MONDO:0957211 | neurodegeneration and seizures due to copper transport defect | |\r\n| MONDO:0957215 | congenital myopathy 20 | |\r\n| MONDO:0957216 | premature ovarian failure 21 | |\r\n| MONDO:0957217 | cortical dysplasia, complex, with other brain malformations 12 | |\r\n| MONDO:0957218 | neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | |\r\n| MONDO:0957220 | oocyte/zygote/embryo maturation arrest 17 | |\r\n| MONDO:0957221 | spastic paraplegia 70, autosomal recessive | |\r\n| MONDO:0957224 | congenital myopathy 21 with early respiratory failure | |\r\n| MONDO:0957225 | neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | |\r\n| MONDO:0957228 | intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | |\r\n| MONDO:0957229 | hatipoglu immunodeficiency syndrome | |\r\n| MONDO:0957230 | oocyte/zygote/embryo maturation arrest 18 | |\r\n| MONDO:0957231 | oocyte/zygote/embryo maturation arrest 19 | |\r\n| MONDO:0957240 | cone-rod dystrophy 24 | |\r\n| MONDO:0957247 | congenital myopathy 22A, classic | |\r\n| MONDO:0957248 | developmental and epileptic encephalopathy 31B | |\r\n| MONDO:0957249 | spermatogenic failure 82 | |\r\n| MONDO:0957250 | spermatogenic failure 83 | |\r\n| MONDO:0957252 | ciliary dyskinesia, primary, 50 | |\r\n| MONDO:0957253 | diarrhea 13 | |\r\n| MONDO:0957254 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | |\r\n| MONDO:0957255 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 | |\r\n| MONDO:0957260 | combined low LDL and fibrinogen | |\r\n| MONDO:0957261 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | |\r\n| MONDO:0957262 | osteopetrosis, autosomal recessive 9 | |\r\n| MONDO:0957263 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | |\r\n| MONDO:0957264 | cerebroretinal microangiopathy with calcifications and cysts 3 | |\r\n| MONDO:0957265 | congenital myopathy 22B, severe fetal | |\r\n| MONDO:0957266 | RECON progeroid syndrome | |\r\n| MONDO:0957267 | neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | |\r\n| MONDO:0957268 | hypersulfaturia | |\r\n| MONDO:0957270 | muscular dystrophy, limb-girdle, autosomal recessive 28 | |\r\n| MONDO:0957271 | autoinflammatory disease, systemic, with vasculitis | |\r\n| MONDO:0957273 | Charcot-Marie-Tooth disease, dominant intermediate A | |\r\n| MONDO:0957274 | spastic paraplegia 89, autosomal recessive | |\r\n| MONDO:0957278 | oocyte/zygote/embryo maturation arrest 20 | |\r\n| MONDO:0957279 | auditory neuropathy, autosomal dominant 2 | |\r\n| MONDO:0957281 | nemaline myopathy 5B, autosomal recessive, childhood-onset | |\r\n| MONDO:0957284 | nemaline myopathy 5C, autosomal dominant | |\r\n| MONDO:0957288 | intellectual developmental disorder, autosomal recessive 79 | |\r\n| MONDO:0957294 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | |\r\n| MONDO:0957301 | spermatogenic failure 84 | |\r\n| MONDO:0957303 | palmoplantar keratoderma, epidermolytic, 2 | |\r\n| MONDO:0957307 | woolly hair-skin fragility syndrome | |\r\n| MONDO:0957308 | spastic paraplegia 90A, autosomal dominant | |\r\n| MONDO:0957309 | spastic paraplegia 90B, autosomal recessive | |\r\n| MONDO:0957314 | retinitis pigmentosa 97 | |\r\n| MONDO:0957337 | isolated chorioretinal dystrophy | |\r\n| MONDO:0957341 | secondary early-onset glaucoma | |\r\n| MONDO:0957382 | multiple mitochondrial dysfunctions syndrome 7 | |\r\n| MONDO:0957385 | dystonia 37, early-onset, with striatal lesions | |\r\n| MONDO:0957386 | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | |\r\n| MONDO:0957388 | autoimmune disease, multisystem, infantile-onset, 3 | |\r\n| MONDO:0957396 | ciliary dyskinesia, primary, 51 | |\r\n| MONDO:0957397 | intellectual developmental disorder, autosomal dominant 72 | |\r\n| MONDO:0957403 | periodic fever syndrome of childhood | |\r\n| MONDO:0957404 | pyogenic autoinflammatory syndrome of childhood | |\r\n| MONDO:0957405 | granulomatous autoinflammatory syndrome of childhood | |\r\n| MONDO:0957408 | type 1 interferonopathy of childhood | |\r\n| MONDO:0957421 | borna virus encephalitis | |\r\n| MONDO:0957423 | immunotherapy induced hypophysitis | |\r\n| MONDO:0957426 | autosomal recessive hyper-IgE syndrome | |\r\n| MONDO:0957427 | B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) | |\r\n| MONDO:0957428 | B-lymphoblastic leukemia/lymphoma with t(17;19) | |\r\n| MONDO:0957430 | childhood-onset schizophrenia | |\r\n| MONDO:0957431 | endogenous Cushing syndrome | |\r\n| MONDO:0957432 | neonatal compartment syndrome | |\r\n| MONDO:0957433 | primary pulmonary vein stenosis | |\r\n| MONDO:0957442 | autosomal recessive ataxia due to PEX16 deficiency | |\r\n| MONDO:0957443 | autosomal recessive ataxia due to PEX2 deficiency | |\r\n| MONDO:0957451 | non-terminal myelocystocele | A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. |\r\n| MONDO:0957452 | segmental arterial mediolysis | |\r\n| MONDO:0957453 | true myelomeningocele | A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation). |\r\n| MONDO:0957454 | hemi-myelomeningocele | A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele. |\r\n| MONDO:0957456 | classical dermatomyositis | |\r\n| MONDO:0957458 | adermatopathic dermatomyositis | |\r\n| MONDO:0957459 | congenital esophageal stenosis | |\r\n| MONDO:0957460 | spontaneous intestinal perforation | |\r\n| MONDO:0957461 | primary tuberculous lymphadenitis | |\r\n| MONDO:0957462 | primary pulmonary tuberculosis | |\r\n| MONDO:0957463 | primary bone and joint tuberculosis | |\r\n| MONDO:0957464 | primary cutaneous tuberculosis | |\r\n| MONDO:0957465 | multifocal tuberculosis | |\r\n| MONDO:0957466 | primary tuberculosis of the digestive system | |\r\n| MONDO:0957467 | primary genito-urinary tuberculosis | |\r\n| MONDO:0957473 | craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome | |\r\n| MONDO:0957476 | isolated persistent urogenital sinus | |\r\n| MONDO:0957477 | MYT1L-related developmental delay-intellectual disability-obesity syndrome | |\r\n| MONDO:0957481 | idiopathic pregnancy-associated osteoporosis | |\r\n| MONDO:0957487 | idiopathic catatonia | |\r\n| MONDO:0957494 | autoinflammatory disease, multisystem, with immune dysregulation, X-linked | |\r\n| MONDO:0957495 | hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | |\r\n| MONDO:0957496 | intellectual developmental disorder, X-linked 112 | |\r\n| MONDO:0957497 | disabling pansclerotic morphea of childhood | |\r\n| MONDO:0957530 | breast-ovarian cancer, familial, susceptibility to, 5 | |\r\n| MONDO:0957531 | neurodevelopmental disorder with microcephaly and movement abnormalities | |\r\n| MONDO:0957533 | megalencephalic leukoencephalopathy with subcortical cysts 3 | |\r\n| MONDO:0957534 | megalencephalic leukoencephalopathy with subcortical cysts 4, remitting | |\r\n| MONDO:0957535 | immunodeficiency 112 | |\r\n| MONDO:0957536 | intellectual developmental disorder, autosomal dominant 73 | |\r\n| MONDO:0957537 | combined oxidative phosphorylation deficiency 58 | |\r\n| MONDO:0957538 | amyotrophic lateral sclerosis 28 | |\r\n| MONDO:0957539 | dystonia 22, juvenile-onset | |\r\n| MONDO:0957540 | congenital disorder of glycosylation, type IIaa | |\r\n| MONDO:0957541 | neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | |\r\n| MONDO:0957542 | dystonia 22, adult-onset | |\r\n| MONDO:0957543 | auriculocondylar syndrome 4 | |\r\n| MONDO:0957544 | auriculocondylar syndrome 2B | |\r\n| MONDO:0957545 | cardiomyopathy, dilated, 2I | |\r\n| MONDO:0957556 | congenital pulmonary vein atresia | |\r\n| MONDO:1010001 | epilepsy, non-human animal | Epilepsy that occurs in non-human animals. |\r\n| MONDO:1010002 | myoclonus, non-human animal | Myoclonus that occurs in non-human animals. |\r\n| MONDO:1010003 | narcolepsy, non-human animal | Narcolepsy that occurs in non-human animals. |\r\n| MONDO:1010004 | paroxysmal dyskinesia, non-human animal | Paroxysmal dyskinesia that occurs in non-human animals. |\r\n| MONDO:1010005 | autism spectrum disorder, non-human animal | Autism spectrum disorder that occurs in non-human animals. |\r\n| MONDO:1010006 | Phelan-McDermid syndrome, non-human animal | Phelan-McDermid syndrome that occurs in non-human animals. |\r\n| MONDO:1010007 | subvalvular aortic stenosis, non-human animal | Subvalvular aortic stenosis that occurs in non-human animals. |\r\n| MONDO:1010008 | atherosclerosis, non-human animal | Atherosclerosis that occurs in non-human animals. |\r\n| MONDO:1010009 | atrial septal defect, non-human animal | Atrial septal defect that occurs in non-human animals. |\r\n| MONDO:1010010 | cardiomyopathy, non-human animal | Cardiomyopathy that occurs in non-human animals. |\r\n| MONDO:1010011 | dilated cardiomyopathy, non-human animal | Dilated cardiomyopathy that occurs in non-human animals. |\r\n| MONDO:1010012 | conotruncal heart malformations, non-human animal | Conotruncal heart malformations that occurs in non-human animals. |\r\n| MONDO:1010013 | cor triatriatum dexter, non-human animal | Cor triatriatum dexter that occurs in non-human animals. |\r\n| MONDO:1010014 | essential hypertension, non-human animal | Essential hypertension that occurs in non-human animals. |\r\n| MONDO:1010015 | hypertrophic cardiomyopathy, non-human animal | Hypertrophic cardiomyopathy that occurs in non-human animals. |\r\n| MONDO:1010016 | mitral valve stenosis, non-human animal | Mitral valve stenosis that occurs in non-human animals. |\r\n| MONDO:1010017 | patent ductus arteriosus, non-human animal | Patent ductus arteriosus that occurs in non-human animals. |\r\n| MONDO:1010018 | persistent truncus arteriosus, non-human animal | Persistent truncus arteriosus that occurs in non-human animals. |\r\n| MONDO:1010019 | arrhythmogenic right ventricular cardiomyopathy, non-human animal | Arrhythmogenic right ventricular cardiomyopathy that occurs in non-human animals. |\r\n| MONDO:1010020 | supravalvular aortic stenosis, non-human animal | Supravalvular aortic stenosis that occurs in non-human animals. |\r\n| MONDO:1010021 | tetralogy of fallot, non-human animal | Tetralogy of fallot that occurs in non-human animals. |\r\n| MONDO:1010022 | ventricular septal defect, non-human animal | Ventricular septal defect that occurs in non-human animals. |\r\n| MONDO:1010023 | patent ductus venosus, non-human animal | Patent ductus venosus that occurs in non-human animals. |\r\n| MONDO:1010024 | atrial fibrillation, non-human animal | Atrial fibrillation that occurs in non-human animals. |\r\n| MONDO:1010025 | Wolff-Parkinson-White syndrome, non-human animal | Wolff-Parkinson-White syndrome that occurs in non-human animals. |\r\n| MONDO:1010026 | Budd-Chiari syndrome, non-human animal | Budd-Chiari syndrome that occurs in non-human animals. |\r\n| MONDO:1010027 | endocardial fibroelastosis, non-human animal | Endocardial fibroelastosis that occurs in non-human animals. |\r\n| MONDO:1010028 | cerebral amyloid angiopathy, non-human animal | Cerebral amyloid angiopathy that occurs in non-human animals. |\r\n| MONDO:1010031 | triploidy, non-human animal | Triploidy that occurs in non-human animals. |\r\n| MONDO:1010032 | Jacobsen syndrome, non-human animal | Jacobsen syndrome that occurs in non-human animals. |\r\n| MONDO:1010033 | holoprosencephaly, non-human animal | Holoprosencephaly that occurs in non-human animals. |\r\n| MONDO:1010034 | cleft lip with or without cleft palate, non-human animal | Cleft lip with or without cleft palate that occurs in non-human animals. |\r\n| MONDO:1010035 | mandibulofacial dysostosis, non-human animal | Mandibulofacial dysostosis that occurs in non-human animals. |\r\n| MONDO:1010036 | frontonasal dysplasia, non-human animal | Frontonasal dysplasia that occurs in non-human animals. |\r\n| MONDO:1010037 | cleft palate, non-human animal | Cleft palate that occurs in non-human animals. |\r\n| MONDO:1010038 | gingival hypertrophy, non-human animal | Gingival hypertrophy that occurs in non-human animals. |\r\n| MONDO:1010039 | megacolon, non-human animal | Megacolon that occurs in non-human animals. |\r\n| MONDO:1010040 | pyloric stenosis, non-human animal | Pyloric stenosis that occurs in non-human animals. |\r\n| MONDO:1010041 | Meckel diverticulum, non-human animal | Meckel diverticulum that occurs in non-human animals. |\r\n| MONDO:1010042 | protein-losing enteropathy, non-human animal | Protein-losing enteropathy that occurs in non-human animals. |\r\n| MONDO:1010043 | cystic fibrosis, non-human animal | Cystic fibrosis that occurs in non-human animals. |\r\n| MONDO:1010044 | microvillus inclusion disease, non-human animal | Microvillus inclusion disease that occurs in non-human animals. |\r\n| MONDO:1010045 | diprosopus, non-human animal | Diprosopus that occurs in non-human animals. |\r\n| MONDO:1010046 | patent urachus, non-human animal | Patent urachus that occurs in non-human animals. |\r\n| MONDO:1010047 | spina bifida, non-human animal | Spina bifida that occurs in non-human animals. |\r\n| MONDO:1010048 | spina bifida occulta, non-human animal | Spina bifida occulta that occurs in non-human animals. |\r\n| MONDO:1010049 | acromegaly, non-human animal | Acromegaly that occurs in non-human animals. |\r\n| MONDO:1010050 | congenital adrenal hyperplasia, non-human animal | Congenital adrenal hyperplasia that occurs in non-human animals. |\r\n| MONDO:1010051 | diabetes insipidus, non-human animal | Diabetes insipidus that occurs in non-human animals. |\r\n| MONDO:1010052 | diabetes mellitus, non-human animal | Diabetes mellitus that occurs in non-human animals. |\r\n| MONDO:1010053 | familial goiter, non-human animal | Familial goiter that occurs in non-human animals. |\r\n| MONDO:1010054 | hyperparathyroidism, non-human animal | Hyperparathyroidism that occurs in non-human animals. |\r\n| MONDO:1010055 | hyperthyroidism, non-human animal | Hyperthyroidism that occurs in non-human animals. |\r\n| MONDO:1010056 | hypoparathyroidism, non-human animal | Hypoparathyroidism that occurs in non-human animals. |\r\n| MONDO:1010057 | congenital hypothyroidism, non-human animal | Congenital hypothyroidism that occurs in non-human animals. |\r\n| MONDO:1010058 | exocrine pancreatic insufficiency, non-human animal | Exocrine pancreatic insufficiency that occurs in non-human animals. |\r\n| MONDO:1010059 | thyroiditis, non-human animal | Thyroiditis that occurs in non-human animals. |\r\n| MONDO:1010060 | pheochromocytoma, non-human animal | Pheochromocytoma that occurs in non-human animals. |\r\n| MONDO:1010061 | hyperaldosteronism, non-human animal | Hyperaldosteronism that occurs in non-human animals. |\r\n| MONDO:1010062 | congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency, non-human animal | Congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency that occurs in non-human animals. |\r\n| MONDO:1010063 | congenital adrenal hypoplasia, non-human animal | Congenital adrenal hypoplasia that occurs in non-human animals. |\r\n| MONDO:1010066 | microcephaly, non-human animal | Microcephaly that occurs in non-human animals. |\r\n| MONDO:1010067 | omphalocele, non-human animal | Omphalocele that occurs in non-human animals. |\r\n| MONDO:1010068 | situs inversus, non-human animal | Situs inversus that occurs in non-human animals. |\r\n| MONDO:1010069 | autoimmune thrombocytopenia, non-human animal | Autoimmune thrombocytopenia that occurs in non-human animals. |\r\n| MONDO:1010070 | Chediak-Higashi syndrome, non-human animal | Chediak-Higashi syndrome that occurs in non-human animals. |\r\n| MONDO:1010071 | factor VII deficiency, non-human animal | Factor VII deficiency that occurs in non-human animals. |\r\n| MONDO:1010072 | factor X deficiency, non-human animal | Factor X deficiency that occurs in non-human animals. |\r\n| MONDO:1010073 | factor XI deficiency, non-human animal | Factor XI deficiency that occurs in non-human animals. |\r\n| MONDO:1010074 | factor XII deficiency, non-human animal | Factor XII deficiency that occurs in non-human animals. |\r\n| MONDO:1010075 | hemophilia B, non-human animal | Hemophilia B that occurs in non-human animals. |\r\n| MONDO:1010076 | hypereosinophilic syndrome, non-human animal | Hypereosinophilic syndrome that occurs in non-human animals. |\r\n| MONDO:1010077 | Pelger-Huet anomaly, non-human animal | Pelger-Huet anomaly that occurs in non-human animals. |\r\n| MONDO:1010078 | polycythemia, non-human animal | Polycythemia that occurs in non-human animals. |\r\n| MONDO:1010079 | prekallikrein deficiency, non-human animal | Prekallikrein deficiency that occurs in non-human animals. |\r\n| MONDO:1010080 | thrombocytopenia, non-human animal | Thrombocytopenia that occurs in non-human animals. |\r\n| MONDO:1010081 | autoimmune thrombocytopenic purpura, non-human animal | Autoimmune thrombocytopenic purpura that occurs in non-human animals. |\r\n| MONDO:1010082 | Evans syndrome, non-human animal | Evans syndrome that occurs in non-human animals. |\r\n| MONDO:1010083 | Scott Syndrome, non-human animal | Scott Syndrome that occurs in non-human animals. |\r\n| MONDO:1010085 | factor XIII deficiency, non-human animal | Factor XIII deficiency that occurs in non-human animals. |\r\n| MONDO:1010086 | myeloperoxidase deficiency, non-human animal | Myeloperoxidase deficiency that occurs in non-human animals. |\r\n| MONDO:1010090 | anotia, non-human animal | Anotia that occurs in non-human animals. |\r\n| MONDO:1010091 | microtia, non-human animal | Microtia that occurs in non-human animals. |\r\n| MONDO:1010092 | AA amyloidosis, non-human animal | AA amyloidosis that occurs in non-human animals. |\r\n| MONDO:1010093 | AL amyloidosis, non-human animal | AL amyloidosis that occurs in non-human animals. |\r\n| MONDO:1010094 | analphalipoproteinaemia, non-human animal | Analphalipoproteinaemia that occurs in non-human animals. |\r\n| MONDO:1010095 | citrullinemia, non-human animal | Citrullinemia that occurs in non-human animals. |\r\n| MONDO:1010099 | pyruvate kinase deficiency of erythrocyte, non-human animal | Pyruvate kinase deficiency of erythrocyte that occurs in non-human animals. |\r\n| MONDO:1010101 | galactosemia, non-human animal | Galactosemia that occurs in non-human animals. |\r\n| MONDO:1010102 | porphyria cutanea tarda, non-human animal | Porphyria cutanea tarda that occurs in non-human animals. |\r\n| MONDO:1010103 | eclampsia, non-human animal | Eclampsia that occurs in non-human animals. |\r\n| MONDO:1010104 | trimethylaminuria (fishy taint), non-human animal | Trimethylaminuria (fishy taint) that occurs in non-human animals. |\r\n| MONDO:1010105 | pyruvate dehydrogenase deficiency, non-human animal | Pyruvate dehydrogenase deficiency that occurs in non-human animals. |\r\n| MONDO:1010106 | multiple acyl-coa dehydrogenase deficiency, non-human animal | Multiple acyl-coa dehydrogenase deficiency that occurs in non-human animals. |\r\n| MONDO:1010107 | acute intermittent porphyria, non-human animal | Acute intermittent porphyria that occurs in non-human animals. |\r\n| MONDO:1010109 | dihydropyrimidinase deficiency, non-human animal | Dihydropyrimidinase deficiency that occurs in non-human animals. |\r\n| MONDO:1010110 | hyperphosphatemia, non-human animal | Hyperphosphatemia that occurs in non-human animals. |\r\n| MONDO:1010113 | glucocorticoid resistance, non-human animal | Glucocorticoid resistance that occurs in non-human animals. |\r\n| MONDO:1010114 | phenylketonuria, non-human animal | Phenylketonuria that occurs in non-human animals. |\r\n| MONDO:1010115 | c8 deficiency, non-human animal | C8 deficiency that occurs in non-human animals. |\r\n| MONDO:1010118 | systemic lupus erythematosus, non-human animal | Systemic lupus erythematosus that occurs in non-human animals. |\r\n| MONDO:1010119 | scleroderma, non-human animal | Scleroderma that occurs in non-human animals. |\r\n| MONDO:1010121 | periodic fever syndrome, non-human animal | Periodic fever syndrome that occurs in non-human animals. |\r\n| MONDO:1010123 | common variable immunodeficiency, non-human animal | Common variable immunodeficiency that occurs in non-human animals. |\r\n| MONDO:1010124 | autoimmune lymphoproliferative syndrome, non-human animal | Autoimmune lymphoproliferative syndrome that occurs in non-human animals. |\r\n| MONDO:1010126 | atopic dermatitis, non-human animal | Atopic dermatitis that occurs in non-human animals. |\r\n| MONDO:1010127 | dermatomyositis, non-human animal | Dermatomyositis that occurs in non-human animals. |\r\n| MONDO:1010129 | epidermolysis bullosa, non-human animal | Epidermolysis bullosa that occurs in non-human animals. |\r\n| MONDO:1010130 | hypertrichosis, non-human animal | Hypertrichosis that occurs in non-human animals. |\r\n| MONDO:1010133 | acrodermatitis enteropathica, non-human animal | Acrodermatitis enteropathica that occurs in non-human animals. |\r\n| MONDO:1010134 | pityriasis rosea, non-human animal | Pityriasis rosea that occurs in non-human animals. |\r\n| MONDO:1010135 | protoporphyria, non-human animal | Protoporphyria that occurs in non-human animals. |\r\n| MONDO:1010136 | vitiligo, non-human animal | Vitiligo that occurs in non-human animals. |\r\n| MONDO:1010137 | bullous pemphigoid, non-human animal | Bullous pemphigoid that occurs in non-human animals. |\r\n| MONDO:1010138 | pemphigus, non-human animal | Pemphigus that occurs in non-human animals. |\r\n| MONDO:1010139 | atrichia with papular lesions, non-human animal | Atrichia with papular lesions that occurs in non-human animals. |\r\n| MONDO:1010140 | alopecia areata, non-human animal | Alopecia areata that occurs in non-human animals. |\r\n| MONDO:1010141 | ectodermal dysplasia/skin fragility syndrome, non-human animal | Ectodermal dysplasia/skin fragility syndrome that occurs in non-human animals. |\r\n| MONDO:1010142 | pyoderma, non-human animal | Pyoderma that occurs in non-human animals. |\r\n| MONDO:1010143 | incontinentia pigmenti, non-human animal | Incontinentia pigmenti that occurs in non-human animals. |\r\n| MONDO:1010147 | stiff skin syndrome, non-human animal | Stiff skin syndrome that occurs in non-human animals. |\r\n| MONDO:1010149 | tricho-dento-osseous-like syndrome, non-human animal | Tricho-dento-osseous-like syndrome that occurs in non-human animals. |\r\n| MONDO:1010153 | Darier disease, non-human animal | Darier disease that occurs in non-human animals. |\r\n| MONDO:1010155 | cutis laxa, non-human animal | Cutis laxa that occurs in non-human animals. |\r\n| MONDO:1010156 | brachydactyly, non-human animal | Brachydactyly that occurs in non-human animals. |\r\n| MONDO:1010157 | hyperostosis, non-human animal | Hyperostosis that occurs in non-human animals. |\r\n| MONDO:1010158 | polydactyly, non-human animal | Polydactyly that occurs in non-human animals. |\r\n| MONDO:1010159 | split hand, non-human animal | Split hand that occurs in non-human animals. |\r\n| MONDO:1010160 | syndactyly, non-human animal | Syndactyly that occurs in non-human animals. |\r\n| MONDO:1010161 | tibial hemimelia, non-human animal | Tibial hemimelia that occurs in non-human animals. |\r\n| MONDO:1010162 | radial hemimelia, non-human animal | Radial hemimelia that occurs in non-human animals. |\r\n| MONDO:1010163 | tetradysmelia, non-human animal | Tetradysmelia that occurs in non-human animals. |\r\n| MONDO:1010164 | Wilson disease, non-human animal | Wilson disease that occurs in non-human animals. |\r\n| MONDO:1010166 | galactosialidosis, non-human animal | Galactosialidosis that occurs in non-human animals. |\r\n| MONDO:1010167 | gangliosidosis, non-human animal | Gangliosidosis that occurs in non-human animals. |\r\n| MONDO:1010170 | Krabbe disease, non-human animal | Krabbe disease that occurs in non-human animals. |\r\n| MONDO:1010171 | lysosomal storage disease, non-human animal | Lysosomal storage disease that occurs in non-human animals. |\r\n| MONDO:1010172 | alpha-mannosidosis, non-human animal | Alpha-mannosidosis that occurs in non-human animals. |\r\n| MONDO:1010191 | deficiency of uridine monophosphate synthase, non-human animal | Deficiency of uridine monophosphate synthase that occurs in non-human animals. |\r\n| MONDO:1010192 | central core myopathy, non-human animal | Central core myopathy that occurs in non-human animals. |\r\n| MONDO:1010195 | myopathy, non-human animal | Myopathy that occurs in non-human animals. |\r\n| MONDO:1010196 | congenital myopathy, non-human animal | Congenital myopathy that occurs in non-human animals. |\r\n| MONDO:1010197 | myositis ossificans, non-human animal | Myositis ossificans that occurs in non-human animals. |\r\n| MONDO:1010198 | myotonic dystrophy, non-human animal | Myotonic dystrophy that occurs in non-human animals. |\r\n| MONDO:1010199 | muscular dystrophy, Duchenne type, non-human animal | Muscular dystrophy, Duchenne type that occurs in non-human animals. |\r\n| MONDO:1010201 | congenital pseudomyotonia, non-human animal | Congenital pseudomyotonia that occurs in non-human animals. |\r\n| MONDO:1010202 | myotubular myopathy 1, non-human animal | Myotubular myopathy 1 that occurs in non-human animals. |\r\n| MONDO:1010203 | polymyositis, non-human animal | Polymyositis that occurs in non-human animals. |\r\n| MONDO:1010208 | myofibrillar myopathy, non-human animal | Myofibrillar myopathy that occurs in non-human animals. |\r\n| MONDO:1010209 | lymphosarcoma, non-human animal | Lymphosarcoma that occurs in non-human animals. |\r\n| MONDO:1010210 | malignant histiocytosis, non-human animal | Malignant histiocytosis that occurs in non-human animals. |\r\n| MONDO:1010211 | mycosis fungoides, non-human animal | Mycosis fungoides that occurs in non-human animals. |\r\n| MONDO:1010212 | osteosarcoma, non-human animal | Osteosarcoma that occurs in non-human animals. |\r\n| MONDO:1010213 | chronic monocytic leukemia, non-human animal | Chronic monocytic leukemia that occurs in non-human animals. |\r\n| MONDO:1010214 | non-hodgkin lymphoma, non-human animal | Non-hodgkin lymphoma that occurs in non-human animals. |\r\n| MONDO:1010215 | familial adenomatous polyposis, non-human animal | Familial adenomatous polyposis that occurs in non-human animals. |\r\n| MONDO:1010216 | embryonal rhabdomyosarcoma, non-human animal | Embryonal rhabdomyosarcoma that occurs in non-human animals. |\r\n| MONDO:1010217 | schwannomatosis, non-human animal | Schwannomatosis that occurs in non-human animals. |\r\n| MONDO:1010220 | ameloblastoma, non-human animal | Ameloblastoma that occurs in non-human animals. |\r\n| MONDO:1010222 | chronic myelomonocytic leukemia, non-human animal | Chronic myelomonocytic leukemia that occurs in non-human animals. |\r\n| MONDO:1010223 | prostate cancer, non-human animal | Prostate cancer that occurs in non-human animals. |\r\n| MONDO:1010224 | benign prostatic hyperplasia, non-human animal | Benign prostatic hyperplasia that occurs in non-human animals. |\r\n| MONDO:1010225 | cystic hygroma, non-human animal | Cystic hygroma that occurs in non-human animals. |\r\n| MONDO:1010226 | lymphangiosarcoma, non-human animal | Lymphangiosarcoma that occurs in non-human animals. |\r\n| MONDO:1010227 | cauda equina syndrome, non-human animal | Cauda equina syndrome that occurs in non-human animals. |\r\n| MONDO:1010228 | Dandy-Walker syndrome, non-human animal | Dandy-Walker syndrome that occurs in non-human animals. |\r\n| MONDO:1010229 | dysautonomia, non-human animal | Dysautonomia that occurs in non-human animals. |\r\n| MONDO:1010230 | hepatic encephalopathy, non-human animal | Hepatic encephalopathy that occurs in non-human animals. |\r\n| MONDO:1010231 | Huntington disease, non-human animal | Huntington disease that occurs in non-human animals. |\r\n| MONDO:1010232 | hydranencephaly, non-human animal | Hydranencephaly that occurs in non-human animals. |\r\n| MONDO:1010233 | hydrocephalus, non-human animal | Hydrocephalus that occurs in non-human animals. |\r\n| MONDO:1010234 | olivopontocerebellar atrophy, non-human animal | Olivopontocerebellar atrophy that occurs in non-human animals. |\r\n| MONDO:1010235 | spinal muscular atrophy, non-human animal | Spinal muscular atrophy that occurs in non-human animals. |\r\n| MONDO:1010236 | syringomyelia, non-human animal | Syringomyelia that occurs in non-human animals. |\r\n| MONDO:1010237 | polymicrogyria, non-human animal | Polymicrogyria that occurs in non-human animals. |\r\n| MONDO:1010238 | leukodystrophy, non-human animal | Leukodystrophy that occurs in non-human animals. |\r\n| MONDO:1010239 | peripheral neuropathy, non-human animal | Peripheral neuropathy that occurs in non-human animals. |\r\n| MONDO:1010240 | Horner syndrome, non-human animal | Horner syndrome that occurs in non-human animals. |\r\n| MONDO:1010241 | giant axonal neuropathy, non-human animal | Giant axonal neuropathy that occurs in non-human animals. |\r\n| MONDO:1010242 | Alexander disease, non-human animal | Alexander disease that occurs in non-human animals. |\r\n| MONDO:1010243 | cerebellar degeneration, non-human animal | Cerebellar degeneration that occurs in non-human animals. |\r\n| MONDO:1010244 | L-2-hydroxyglutaricacidemia, non-human animal | L-2-hydroxyglutaricacidemia that occurs in non-human animals. |\r\n| MONDO:1010245 | hyperekplexia, non-human animal | Hyperekplexia that occurs in non-human animals. |\r\n| MONDO:1010247 | lissencephaly and cerebellar hypoplasia, non-human animal | Lissencephaly and cerebellar hypoplasia that occurs in non-human animals. |\r\n| MONDO:1010249 | ataxia telangiectasia, non-human animal | Ataxia telangiectasia that occurs in non-human animals. |\r\n| MONDO:1010252 | succinic semialdehyde dehydrogenase deficiency, non-human animal | Succinic semialdehyde dehydrogenase deficiency that occurs in non-human animals. |\r\n| MONDO:1010258 | glomerulonephritis, non-human animal | Glomerulonephritis that occurs in non-human animals. |\r\n| MONDO:1010259 | nephritis, non-human animal | Nephritis that occurs in non-human animals. |\r\n| MONDO:1010260 | nephrolithiasis, non-human animal | Nephrolithiasis that occurs in non-human animals. |\r\n| MONDO:1010261 | nephrotic syndrome, non-human animal | Nephrotic syndrome that occurs in non-human animals. |\r\n| MONDO:1010262 | polycystic kidney disease, non-human animal | Polycystic kidney disease that occurs in non-human animals. |\r\n| MONDO:1010264 | renal hypoplasia, non-human animal | Renal hypoplasia that occurs in non-human animals. |\r\n| MONDO:1010265 | renal hypoplasia, unilateral, non-human animal | Renal hypoplasia, unilateral that occurs in non-human animals. |\r\n| MONDO:1010266 | renal hypoplasia, bilateral, non-human animal | Renal hypoplasia, bilateral that occurs in non-human animals. |\r\n| MONDO:1010267 | urolithiasis, non-human animal | Urolithiasis that occurs in non-human animals. |\r\n| MONDO:1010268 | renal dysplasia, non-human animal | Renal dysplasia that occurs in non-human animals. |\r\n| MONDO:1010269 | hypospadias, non-human animal | Hypospadias that occurs in non-human animals. |\r\n| MONDO:1010270 | alkaptonuria, non-human animal | Alkaptonuria that occurs in non-human animals. |\r\n| MONDO:1010272 | renal agenesis, non-human animal | Renal agenesis that occurs in non-human animals. |\r\n| MONDO:1010275 | cryptorchidism, non-human animal | Cryptorchidism that occurs in non-human animals. |\r\n| MONDO:1010276 | hypogonadism, non-human animal | Hypogonadism that occurs in non-human animals. |\r\n| MONDO:1010277 | orchitis, non-human animal | Orchitis that occurs in non-human animals. |\r\n| MONDO:1010278 | persistent Mullerian duct syndrome, non-human animal | Persistent Mullerian duct syndrome that occurs in non-human animals. |\r\n| MONDO:1010279 | hymen, imperforate, non-human animal | Hymen, imperforate that occurs in non-human animals. |\r\n| MONDO:1010280 | priapism, non-human animal | Priapism that occurs in non-human animals. |\r\n| MONDO:1010281 | testicular regression syndrome, non-human animal | Testicular regression syndrome that occurs in non-human animals. |\r\n| MONDO:1010282 | azoospermia, non-human animal | Azoospermia that occurs in non-human animals. |\r\n| MONDO:1010284 | allergic rhinitis, non-human animal | Allergic rhinitis that occurs in non-human animals. |\r\n| MONDO:1010285 | atrophic rhinitis, non-human animal | Atrophic rhinitis that occurs in non-human animals. |\r\n| MONDO:1010286 | pneumothorax, non-human animal | Pneumothorax that occurs in non-human animals. |\r\n| MONDO:1010287 | pulmonary hypertension, non-human animal | Pulmonary hypertension that occurs in non-human animals. |\r\n| MONDO:1010289 | choanal atresia, non-human animal | Choanal atresia that occurs in non-human animals. |\r\n| MONDO:1010290 | pulmonary agenesis, non-human animal | Pulmonary agenesis that occurs in non-human animals. |\r\n| MONDO:1010291 | achondroplasia, non-human animal | Achondroplasia that occurs in non-human animals. |\r\n| MONDO:1010292 | ankylosing spondylitis, non-human animal | Ankylosing spondylitis that occurs in non-human animals. |\r\n| MONDO:1010293 | anodontia, non-human animal | Anodontia that occurs in non-human animals. |\r\n| MONDO:1010294 | rheumatoid arthritis, non-human animal | Rheumatoid arthritis that occurs in non-human animals. |\r\n| MONDO:1010295 | osteoporosis, non-human animal | Osteoporosis that occurs in non-human animals. |\r\n| MONDO:1010296 | Marfan syndrome, non-human animal | Marfan syndrome that occurs in non-human animals. |\r\n| MONDO:1010297 | osteoarthritis, non-human animal | Osteoarthritis that occurs in non-human animals. |\r\n| MONDO:1010298 | osteochondritis dissecans, non-human animal | Osteochondritis dissecans that occurs in non-human animals. |\r\n| MONDO:1010299 | osteochondrosis, non-human animal | Osteochondrosis that occurs in non-human animals. |\r\n| MONDO:1010300 | osteopetrosis, non-human animal | Osteopetrosis that occurs in non-human animals. |\r\n| MONDO:1010302 | scoliosis, non-human animal | Scoliosis that occurs in non-human animals. |\r\n| MONDO:1010303 | spinal stenosis, non-human animal | Spinal stenosis that occurs in non-human animals. |\r\n| MONDO:1010304 | synovial chondromatosis, non-human animal | Synovial chondromatosis that occurs in non-human animals. |\r\n| MONDO:1010305 | craniosynostosis, non-human animal | Craniosynostosis that occurs in non-human animals. |\r\n| MONDO:1010306 | osteochondrodysplasia, non-human animal | Osteochondrodysplasia that occurs in non-human animals. |\r\n| MONDO:1010310 | schmid metaphyseal chondrodysplasia dwarfism, non-human animal | Schmid metaphyseal chondrodysplasia dwarfism that occurs in non-human animals. |\r\n| MONDO:1010312 | osteopetrosis with gingival hamartomas, non-human animal | Osteopetrosis with gingival hamartomas that occurs in non-human animals. |\r\n| MONDO:1010313 | spondylocostal dysostosis, autosomal recessive, non-human animal | Spondylocostal dysostosis, autosomal recessive that occurs in non-human animals. |\r\n| MONDO:1010314 | Van den Ende-Gupta syndrome, non-human animal | Van den Ende-Gupta syndrome that occurs in non-human animals. |\r\n| MONDO:1010315 | periodontitis, non-human animal | Periodontitis that occurs in non-human animals. |\r\n| MONDO:1010316 | hypophosphatasia, non-human animal | Hypophosphatasia that occurs in non-human animals. |\r\n| MONDO:1010318 | GAPO syndrome, non-human animal | GAPO syndrome that occurs in non-human animals. |\r\n| MONDO:1010319 | coloboma, non-human animal | Coloboma that occurs in non-human animals. |\r\n| MONDO:1010320 | corneal dystrophy, non-human animal | Corneal dystrophy that occurs in non-human animals. |\r\n| MONDO:1010321 | retinal detachment, non-human animal | Retinal detachment that occurs in non-human animals. |\r\n| MONDO:1010322 | ectropion, non-human animal | Ectropion that occurs in non-human animals. |\r\n| MONDO:1010323 | entropion, non-human animal | Entropion that occurs in non-human animals. |\r\n| MONDO:1010324 | microphthalmia, non-human animal | Microphthalmia that occurs in non-human animals. |\r\n| MONDO:1010325 | congenital nystagmus, non-human animal | Congenital nystagmus that occurs in non-human animals. |\r\n| MONDO:1010326 | retinal degeneration, non-human animal | Retinal degeneration that occurs in non-human animals. |\r\n| MONDO:1010327 | strabismus, non-human animal | Strabismus that occurs in non-human animals. |\r\n| MONDO:1010328 | retinoschisis, non-human animal | Retinoschisis that occurs in non-human animals. |\r\n| MONDO:1010329 | Leber congenital amaurosis, non-human animal | Leber congenital amaurosis that occurs in non-human animals. |\r\n| MONDO:1010330 | keratitis, non-human animal | Keratitis that occurs in non-human animals. |\r\n| MONDO:1010334 | retinitis pigmentosa, non-human animal | Retinitis pigmentosa that occurs in non-human animals. |\r\n| MONDO:1010337 | myopia, non-human animal | Myopia that occurs in non-human animals. |\r\n| MONDO:1010343 | diabetic cataract, non-human animal | Diabetic cataract that occurs in non-human animals. |\r\n| MONDO:1010344 | Peters anomaly, non-human animal | Peters anomaly that occurs in non-human animals. |\r\n| MONDO:1010350 | macular corneal dystrophy, non-human animal | Macular corneal dystrophy that occurs in non-human animals. |\r\n| MONDO:1010351 | age-related macular degeneration, non-human animal | Age-related macular degeneration that occurs in non-human animals. |\r\n| MONDO:1010352 | microphthalmia, isolated, with coloboma, non-human animal | Microphthalmia, isolated, with coloboma that occurs in non-human animals. |\r\n| MONDO:1010358 | Leber hereditary optic neuropathy, non-human animal | Leber hereditary optic neuropathy that occurs in non-human animals. |\r\n| MONDO:1010359 | night blindness, non-human animal | Night blindness that occurs in non-human animals. |\r\n| MONDO:1010360 | dacryocystitis, non-human animal | Dacryocystitis that occurs in non-human animals. |\r\n| MONDO:1010361 | hyperphagia leading to hepatic steatosis, non-human animal | Hyperphagia leading to hepatic steatosis that occurs in non-human animals. |\r\n\r\n\r\n## Changed terms\r\n\r\n### Changed labels\r\n\r\n| Mondo ID | Label | Previous release | New release |\r\n|:---|:---|:---|:---|\r\n| MONDO:0003579 | retinal nerve fiber layer disorder | retinal nerve fibre layer disorder | retinal nerve fiber layer disorder |\r\n| MONDO:0001006 | glaucomatous atrophy of optic disk | glaucomatous atrophy of optic disc | glaucomatous atrophy of optic disk |\r\n| MONDO:0002503 | adult astrocytic tumor | adult astrocytic tumour | adult astrocytic tumor |\r\n| MONDO:0007124 | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |\r\n| MONDO:0008686 | isolated familial wooly hair disorder | isolated familial woolly hair disorder | isolated familial wooly hair disorder |\r\n| MONDO:0010207 | wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome | woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome | wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome |\r\n| MONDO:0011385 | intervertebral disk degenerative disorder | intervertebral disc degenerative disorder | intervertebral disk degenerative disorder |\r\n| MONDO:0011581 | arrhythmogenic cardiomyopathy with wooly hair and keratoderma | arrhythmogenic cardiomyopathy with woolly hair and keratoderma | arrhythmogenic cardiomyopathy with wooly hair and keratoderma |\r\n| MONDO:0012687 | familial cavitary optic disk anomaly | familial cavitary optic disc anomaly | familial cavitary optic disk anomaly |\r\n| MONDO:0014017 | intellectual developmental disorder with autism and macrocephaly | autism, susceptibility to, 18 | intellectual developmental disorder with autism and macrocephaly |\r\n| MONDO:0014355 | cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis |\r\n| MONDO:0014492 | wooly hair-palmoplantar keratoderma syndrome | woolly hair-palmoplantar keratoderma syndrome | wooly hair-palmoplantar keratoderma syndrome |\r\n| MONDO:0014765 | wooly hair, autosomal recessive 3 | woolly hair, autosomal recessive 3 | wooly hair, autosomal recessive 3 |\r\n| MONDO:0018738 | benign metanephric tumor | benign metanephric tumour | benign metanephric tumor |\r\n| MONDO:0019311 | wooly hair nevus | woolly hair nevus | wooly hair nevus |\r\n| MONDO:0020507 | leukoencephalopathy with vanishing white matter 1 | Cree leukoencephalopathy | leukoencephalopathy with vanishing white matter 1 |\r\n| MONDO:0020717 | autosomal dominant wooly hair | autosomal dominant woolly hair | autosomal dominant wooly hair |\r\n| MONDO:0032688 | polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | polymicrogyria with or without vascular-type ehlers-danlos syndrome | polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |\r\n| MONDO:0044339 | lumbar disk degenerative disorder | lumbar disc degenerative disorder | lumbar disk degenerative disorder |\r\n| MONDO:0044342 | thoracic disk degenerative disorder | thoracic disc degenerative disorder | thoracic disk degenerative disorder |\r\n| MONDO:0044343 | cervical disk degenerative disorder | cervical disc degenerative disorder | cervical disk degenerative disorder |\r\n| MONDO:0100201 | lumbar disk disease | lumbar disc disease | lumbar disk disease |\r\n| MONDO:0100202 | lumbar disk herniation, susceptibility to | lumbar disc herniation, susceptibility to | lumbar disk herniation, susceptibility to |\r\n| MONDO:0100206 | lumbar disk degeneration, susceptibility to | lumbar disc degeneration, susceptibility to | lumbar disk degeneration, susceptibility to |\r\n| MONDO:0800312 | wooly hair, autosomal recessive 1, with or without hypotrichosis | woolly hair, autosomal recessive 1, with or without hypotrichosis | wooly hair, autosomal recessive 1, with or without hypotrichosis |\r\n| MONDO:0850010 | congenital optic disk excavation | congenital optic disc excavation | congenital optic disk excavation |\r\n| MONDO:0850281 | mammary analog secretory carcinoma | mammary analogue secretory carcinoma | mammary analog secretory carcinoma |\r\n| MONDO:0858959 | polymorphous low grade neuroepithelial tumor of the young | polymorphous low grade neuroepithelial tumour of the young | polymorphous low grade neuroepithelial tumor of the young |\r\n\r\n### Changed definitions\r\n\r\n| Mondo ID | Label | Previous release | New release |\r\n|:---|:---|:---|:---|\r\n| MONDO:0009943 | Pyle disease | A bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. | A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. |\r\n| MONDO:0000179 | Neu-Laxova syndrome | Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. | Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. |\r\n| MONDO:0000212 | hypercalcemia, infantile | A hypercalcemia disease that occurs between 28 days to one year of life.. | A hypercalcemia disease that occurs between 28 days to one year of life. |\r\n| MONDO:0000253 | piedra | Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. | Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species. |\r\n| MONDO:0019496 | neuroendocrine neoplasm | Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). | Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion). |\r\n| MONDO:0000437 | cerebellar ataxia | A neurological syndrome characterised by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. | A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. |\r\n| MONDO:0006649 | anterior ischemic optic neuropathy | Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. | Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. |\r\n\r\n_note: this report was truncated. See all changed definitions report [here](https://github.com/monarch-initiative/mondo/blob/master/Changes.md)._\r\n\r\n### Obsolete terms\r\n\r\n| Mondo ID | Label |\r\n|:---|:---|\r\n| MONDO:0001153 | obsolete gender dysphoria |\r\n| MONDO:0007779 | obsolete autosomal dominant Opitz G/BBB syndrome |\r\n| MONDO:0011380 | obsolete leukoencephalopathy with vanishing white matter |\r\n| MONDO:0034147 | obsolete neonatal epileptic encephalopathy due to glutaminase deficiency |\r\n| MONDO:0044618 | obsolete CLCN4-related X-linked intellectual disability syndrome |\r\n| MONDO:0044747 | obsolete human anaplasmosis |\r\n\r\n### New obsoletion candidates\r\n\r\n| Mondo ID | Label |\r\n|:---|:---|\r\n| MONDO:0021034 | hereditary alopecia |\r\n| MONDO:0015508 | hereditary parenchymatous liver disease |\r\n| MONDO:0018562 | hereditary otorhinolaryngological malformation |\r\n| MONDO:0019743 | nephropathy secondary to a storage or other metabolic disease |\r\n| MONDO:0018454 | dysostosis of genetic origin |\r\n| MONDO:0035682 | fibrous dysplasia/McCune-Albright syndrome |\r\n| MONDO:0017651 | primary myoclonus |\r\n| MONDO:0018329 | persistent combined dystonia |\r\n| MONDO:0018916 | isolated anorectal malformation |\r\n| MONDO:0016054 | cerebral malformation |\r\n| MONDO:0015368 | neuro-ophthalmological disease |\r\n| MONDO:0015217 | non-syndromic developmental defect of the eye |\r\n| MONDO:0001500 | gender identity disorder |\r\n| MONDO:0001693 | ego-dystonic sexual orientation |\r\n| MONDO:0016756 | inherited nervous system cancer-predisposing syndrome |\r\n| MONDO:0017891 | inherited renal cancer-predisposing syndrome |\r\n| MONDO:0020537 | occupational allergic alveolitis |\r\n| MONDO:0017027 | primary interstitial lung disease specific to adulthood |\r\n| MONDO:0018191 | tumor of testis and paratestis |\r\n| MONDO:0016592 | non-hereditary degenerative ataxia |\r\n| MONDO:0019724 | secondary glomerular disease |\r\n| MONDO:0015933 | non-syndromic urogenital tract malformation of male |\r\n| MONDO:0016708 | embryonal tumor of neuroepithelial tissue |\r\n| MONDO:0020144 | cerebrovascular dementia |\r\n| MONDO:0015141 | disorder of medulla oblongata |\r\n| MONDO:0018187 | hereditary syndromic Pierre Robin syndrome |\r\n| MONDO:0020158 | eyelids malposition disorder |\r\n| MONDO:0017676 | marginal papular palmoplantar keratoderma |\r\n| MONDO:0019292 | dermis elastic tissue disorder |\r\n| MONDO:0020197 | EEC syndrome and related syndrome |\r\n| MONDO:0019713 | non-syndromic limb reduction defect |\r\n| MONDO:0800094 | dysostosis with brachydactyly with extraskeletal manifestations |\r\n| MONDO:0017132 | hereditary ATTR amyloidosis |\r\n| MONDO:0015145 | neurovascular malformation |\r\n| MONDO:0800090 | ectrodactyly with and without other manifestations |\r\n| MONDO:0800093 | dysostosis with brachydactyly without extraskeletal manifestations |\r\n| MONDO:0018393 | male infertility with azoospermia or oligozoospermia due to single gene mutation |\r\n| MONDO:0015488 | predominantly large-vessel vasculitis |\r\n| MONDO:0016230 | simple vascular malformation |\r\n| MONDO:0800084 | primary bone dysplasia with increased bone density |\r\n| MONDO:0018240 | TRPV4-related bone disorder |\r\n| MONDO:0017673 | isolated focal palmoplantar keratoderma |\r\n| MONDO:0017428 | congenital deformities of fingers |\r\n| MONDO:0015470 | familial isolated dilated cardiomyopathy |\r\n| MONDO:0019150 | familial isolated restrictive cardiomyopathy |\r\n| MONDO:0020375 | coralliform cataract |\r\n| MONDO:0015765 | congenital myopathy with cores |\r\n| MONDO:0800091 | overgrowth or tall stature syndrome with skeletal involvement |\r\n| MONDO:0800075 | dysostosis with predominant vertebral with and without costal involvement |\r\n| MONDO:0016520 | isolated Klippel-Feil syndrome |\r\n| MONDO:0015135 | primary immunodeficiency due to a genetic defect in innate immunity |\r\n| MONDO:0800089 | primary bone dysplasia with disorganized development of skeletal components |\r\n| MONDO:0019697 | mesomelic and rhizo-mesomelic dysplasia |\r\n| MONDO:0018888 | congenital cornea plana |\r\n| MONDO:0024471 | non-inflammatory vasculopathy |\r\n| MONDO:0018112 | isolated scaphocephaly |\r\n| MONDO:0018113 | isolated plagiocephaly |\r\n| MONDO:0018114 | isolated brachycephaly |\r\n| MONDO:0017234 | inherited prion disease |\r\n| MONDO:0016524 | congenital vascular bone syndrome |\r\n| MONDO:0017922 | deafness-onychodystrophy syndrome |\r\n| MONDO:0020132 | cranial nerve and nuclear aplasia |\r\n| MONDO:0019699 | slender bone dysplasia |\r\n| MONDO:0015221 | non-syndromic respiratory or mediastinal malformation |\r\n| MONDO:0018538 | inherited digestive cancer-predisposing syndrome |\r\n| MONDO:0020256 | congenital trochlear nerve palsy |\r\n| MONDO:0957025 | hereditary 46,XY disorder of sex development |\r\n| MONDO:0015961 | hereditary head and neck malformation |\r\n| MONDO:0800085 | dysostosis with predominant craniofacial involvement |\r\n| MONDO:0015617 | hereditary gastro-esophageal disease |\r\n| MONDO:0015111 | gastroesophageal disease |\r\n| MONDO:0016170 | chronic polyradiculoneuropathy |\r\n| MONDO:0019692 | multiple epiphyseal dysplasia and pseudoachondroplasia |\r\n| MONDO:0019688 | sulfation-related bone disorder |\r\n| MONDO:0019720 | non-syndromic renal or urinary tract malformation |\r\n| MONDO:0016352 | idiopathic inherited hypercalciuria |\r\n| MONDO:0015902 | major hypertriglyceridemia |\r\n| MONDO:0034217 | resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |\r\n| MONDO:0019712 | patellar dysostosis |\r\n| MONDO:0015337 | isolated craniosynostosis |\r\n| MONDO:0019176 | trichorhinophalangeal syndrome type I or III |\r\n| MONDO:0018385 | osteochondrosis of genetic origin |\r\n| MONDO:0020178 | palpebral lentiginosis |\r\n| MONDO:0018188 | hereditary intestinal polyposis |\r\n| MONDO:0800087 | type 11 collagen-related bone disorder |\r\n| MONDO:0019044 | tumor of hematopoietic and lymphoid tissues |\r\n| MONDO:0035162 | PIK3CA-related overgrowth syndrome |\r\n| MONDO:0019693 | multiple metaphyseal dysplasia |\r\n| MONDO:0016797 | multiple mitochondrial DNA deletion syndrome |\r\n| MONDO:0015499 | paralytic facial malformation |\r\n| MONDO:0019281 | isolated genetic hair shaft abnormality |\r\n| MONDO:0015227 | non-syndromic limb malformation |\r\n| MONDO:0020203 | pigmented conjunctival lesion |\r\n| MONDO:0016518 | isolated punctate palmoplantar keratoderma |\r\n| MONDO:0017828 | primary renal tubular acidosis |\r\n| MONDO:0020238 | inherited vitreous-retinal disease |\r\n| MONDO:0957001 | hereditary mixed dermis disorder |\r\n| MONDO:0017059 | neural tube closure defect |\r\n| MONDO:0015207 | non-syndromic esophageal malformation |\r\n| MONDO:0019723 | disease of glomerular basement membrane |\r\n| MONDO:0017656 | motor stereotypies |\r\n| MONDO:0020154 | microblepharon-ablephara syndrome |\r\n| MONDO:0017421 | non-syndromic terminal limb defects |\r\n| MONDO:0957024 | hereditary 46,XX disorder of sex development |\r\n| MONDO:0017104 | central nervous system cystic malformation |\r\n| MONDO:0800092 | hereditary inflammatory or rheumatoid-like osteoarthropathy |\r\n| MONDO:0017950 | microcephalic primordial dwarfism |\r\n| MONDO:0019718 | lethal chondrodysplasia |\r\n| MONDO:0015489 | predominantly medium-vessel vasculitis |\r\n| MONDO:0017114 | global cerebellar malformation |\r\n| MONDO:0020118 | dense granule disease |\r\n| MONDO:0015178 | congenital intestinal transport defect |\r\n| MONDO:0015823 | primary immunodeficiency due to a defect in adaptive immunity |\r\n| MONDO:0016805 | isolated oxidative phosphorylation complex disorder |\r\n| MONDO:0020130 | malformation of the cerebellar vermis |\r\n| MONDO:0019126 | intractable diarrhea of infancy |\r\n| MONDO:0015209 | non-syndromic gastroduodenal malformation |\r\n| MONDO:0020194 | congenital alacrima |\r\n| MONDO:0019689 | perlecan-related bone disorder |\r\n| MONDO:0018241 | primary short bowel syndrome |\r\n| MONDO:0016361 | isolated hereditary giant platelet disorder |\r\n| MONDO:0019213 | cerebral organic aciduria |\r\n| MONDO:0015490 | predominantly small-vessel vasculitis |\r\n| MONDO:0800086 | primary bone dysplasia with multiple joint dislocations |\r\n| MONDO:0015132 | immunodeficiency predominantly affecting antibody production |\r\n| MONDO:0020345 | presynaptic congenital myasthenic syndrome |\r\n| MONDO:0016121 | congenital myotonia |\r\n| MONDO:0022409 | nephropathy-associated ciliopathy |\r\n| MONDO:0018720 | common cystic lymphatic malformation |\r\n| MONDO:0017954 | pyogenic autoinflammatory syndrome |\r\n| MONDO:0009997 | Roberts syndrome |\r\n| MONDO:0020160 | secondary entropion |\r\n| MONDO:0020392 | discrete fixed membranous subaortic stenosis |\r\n| MONDO:0016428 | multiple sclerosis variant |\r\n| MONDO:0016409 | primary congenital hypothyroidism |\r\n| MONDO:0016899 | Duchenne and Becker muscular dystrophy |\r\n| MONDO:0018451 | X-linked distal hereditary motor neuropathy |\r\n| MONDO:0017581 | familial infantile gigantism |\r\n| MONDO:0016803 | unspecified inborn mitochondrial disorder |\r\n| MONDO:0015975 | hyper-IgM syndrome with susceptibility to opportunistic infections |\r\n| MONDO:0020174 | precancerous lesion of palpebral epidermis |\r\n| MONDO:0020219 | corneogoniodysgenesis |\r\n| MONDO:0017057 | hereditary thrombocytopenia with normal platelets |\r\n| MONDO:0016794 | maternally-inherited mitochondrial myopathy |\r\n| MONDO:0018831 | HTRA1-related cerebral small vessel disease |\r\n| MONDO:0017090 | midline cerebral malformation |\r\n| MONDO:0018796 | isolated constitutional thrombocytopenia |\r\n| MONDO:0017262 | inherited non-syndromic ichthyosis |\r\n| MONDO:0017667 | isolated diffuse palmoplantar keratoderma |\r\n| MONDO:0015505 | tracheal anomaly |\r\n| MONDO:0015976 | hyper-IgM syndrome without susceptibility to opportunistic infections |\r\n| MONDO:0018701 | congenital nemaline myopathy |\r\n| MONDO:0019541 | non-infectious posterior uveitis |\r\n| MONDO:0018246 | homozygous 2p21 microdeletion syndrome |\r\n| MONDO:0017173 | non-syndromic male infertility due to sperm motility disorder |\r\n| MONDO:0018758 | familial patent arterial duct |\r\n| MONDO:0016816 | Leigh syndrome with nephrotic syndrome |\r\n| MONDO:0018262 | fetal anticonvulsant syndrome |\r\n| MONDO:0017397 | constitutional dyserythropoietic anemia |\r\n| MONDO:0016355 | semilobar holoprosencephaly |\r\n| MONDO:0017218 | septopreoptic holoprosencephaly |\r\n| MONDO:0019758 | midline interhemispheric variant of holoprosencephaly |\r\n| MONDO:0033947 | hereditary angioedema with normal C1Inh |\r\n| MONDO:0016116 | generalized bulbospinal muscular atrophy |\r\n| MONDO:0016579 | dominant hypophosphatemia with nephrolithiasis or osteoporosis |\r\n| MONDO:0015497 | hypoglossia/aglossia |\r\n| MONDO:0018779 | hypercontractile muscle stiffness syndrome |\r\n| MONDO:0019844 | pituitary hormone deficiency secondary to storage disease |\r\n| MONDO:0013524 | bleeding diathesis due to thromboxane synthesis deficiency |\r\n| MONDO:0019505 | hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome |\r\n| MONDO:0034024 | kyphoscoliotic Ehlers-Danlos syndrome |\r\n| MONDO:0020133 | posterior fossa malformation |\r\n| MONDO:0017629 | sodium channelopathy-related small fiber neuropathy |\r\n| MONDO:0018337 | severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |\r\n| MONDO:0016589 | progressive cerebello-cerebral atrophy |\r\n| MONDO:0020506 | ovarioleukodystrophy |\r\n| MONDO:0018574 | intellectual disability-expressive aphasia-facial dysmorphism syndrome |\r\n| MONDO:0018580 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |\r\n| MONDO:0016815 | Leigh syndrome with leukodystrophy |\r\n| MONDO:0017049 | hypomyelination neuropathy-arthrogryposis syndrome |\r\n| MONDO:0018575 | microcephalic primordial dwarfism-insulin resistance syndrome |\r\n| MONDO:0018340 | hereditary isolated aplastic anemia |\r\n| MONDO:0019619 | duplication of the esophagus |\r\n| MONDO:0019800 | chronic hepatic porphyria |\r\n| MONDO:0020020 | visceral malformation of the liver, biliary tract, pancreas or spleen |\r\n| MONDO:0015219 | non-syndromic central nervous system malformation |\r\n| MONDO:0015330 | overgrowth/obesity syndrome |\r\n| MONDO:0015482 | otomandibular dysplasia |\r\n| MONDO:0015485 | primary hereditary glaucoma |\r\n| MONDO:0015591 | limbic encephalitis associated with antibodies to cell membrane antigens |\r\n| MONDO:0015668 | hereditary dentin defect |\r\n| MONDO:0015619 | non-syndromic urogenital tract malformation |\r\n| MONDO:0015828 | uterovaginal malformation |\r\n| MONDO:0015829 | non-syndromic uterovaginal malformation |\r\n| MONDO:0015932 | non-syndromic urogenital tract malformation of female |\r\n| MONDO:0015837 | Unicervical bicornuate uterus |\r\n| MONDO:0015915 | cerebellar malformation |\r\n| MONDO:0016678 | maternal disease-related embryofetopathy |\r\n| MONDO:0018745 | superficial pemphigus |\r\n| MONDO:0016169 | chronic acquired demyelinating polyneuropathy |\r\n| MONDO:0016173 | non-paraneoplastic sensory ganglionopathy |\r\n| MONDO:0016174 | paraneoplastic sensory ganglionopathy |\r\n| MONDO:0016348 | non-genetic cardiac rhythm disease |\r\n| MONDO:0016493 | variant of Guillain-Barre syndrome |\r\n| MONDO:0017423 | split hand or/and split foot malformation |\r\n| MONDO:0017955 | granulomatous autoinflammatory syndrome |\r\n| MONDO:0018640 | secondary vasculitis |\r\n| MONDO:0016744 | primary melanocytic tumor of central nervous system |\r\n| MONDO:0018791 | Moyomoya angiopathy |\r\n| MONDO:0017036 | Langerhans cell histiocytosis in childhood and adulthood |\r\n| MONDO:0020131 | malformation of the cerebellar hemispheres |\r\n| MONDO:0017263 | inherited ichthyosis syndromic form |\r\n| MONDO:0020275 | oculocutaneous or ocular albinism |\r\n| MONDO:0017420 | intercalary limb defects |\r\n| MONDO:0017430 | non-syndromic congenital joint dislocations |\r\n| MONDO:0017431 | non-syndromic limb overgrowth |\r\n| MONDO:0017681 | erythrokeratoderma variabilis progressiva |\r\n| MONDO:0018283 | primary qualitative or quantitative defects of alpha-dystroglycan |\r\n| MONDO:0018665 | X-linked acrogigantism due to a point mutation |\r\n| MONDO:0019599 | primary lipodystrophy |\r\n| MONDO:0020084 | lymphoproliferative disease associated with primary immune disease |\r\n| MONDO:0957009 | hereditary posterior fossa malformation |\r\n| MONDO:0020524 | primary parathyroid hyperplasia |\r\n| MONDO:0028618 | gastroenteric neuroendocrine neoplasm |\r\n| MONDO:0036192 | EN1-related dorsoventral syndrome |\r\n| MONDO:0034669 | non-syndromic preaxial polydactyly |\r\n| MONDO:0034670 | non-syndromic postaxial polydactyly |\r\n| MONDO:0034671 | non-syndromic complex polydactyly |\r\n| MONDO:0034872 | large granular lymphocyte leukemia |\r\n| MONDO:0035002 | isolated inherited retinal disorder |\r\n| MONDO:0035014 | primary orthostatic disorder |\r\n| MONDO:0035561 | sporadic human prion disease |\r\n| MONDO:0035645 | inherited gynecological cancer-predisposing syndrome |\r\n| MONDO:0035684 | epidermolysis bullosa simplex without extracutaneous involvement |\r\n| MONDO:0035685 | epidermolysis bullosa simplex with extracutaneous involvement |\r\n| MONDO:0100282 | SC phocomelia syndrome |\r\n\r\n### Terms that were previously candidate for obsoletion and are now not anymore\r\n\r\n| Mondo ID | Label |\r\n|:---|:---|\r\n| MONDO:0018795 | syndromic constitutional thrombocytopenia |\r\n"
}
