FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term physical disorder ID (Ontology) DOID:0080015 (Human Disease)
Definition A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
Also Known As "congenital disorder"
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  disease
   |__physical disorder  945 rec.
       |__agnathia-otocephaly complex 1 rec.
       |__arthrogryposis multiplex congenita 5 rec.
       |   |__arthrogryposis multiplex congenita-1
       |   |__arthrogryposis multiplex congenita-3 1 rec.
       |   |__arthrogryposis multiplex congenita-4 2 rec.
       |   |__arthrogryposis multiplex congenita-5 1 rec.
       |   |__arthrogryposis multiplex congenita-6
       |   |__neurogenic-type arthrogryposis multiplex congenita-2 1 rec.
       |__autosomal dominant congenital deafness with onychodystrophy 1 rec.
       |__autosomal recessive congenital ichthyosis 45 rec.
       |   |__autosomal recessive congenital ichthyosis 1 1 rec.
       |   |__autosomal recessive congenital ichthyosis 2
       |   |__autosomal recessive congenital ichthyosis 3
       |   |__autosomal recessive congenital ichthyosis 4A 1 rec.
       |   |__autosomal recessive congenital ichthyosis 4B 1 rec.
       |   |__autosomal recessive congenital ichthyosis 5 10 rec.
       |   |__autosomal recessive congenital ichthyosis 6 1 rec.
       |   |__autosomal recessive congenital ichthyosis 7
       |   |__autosomal recessive congenital ichthyosis 8 19 rec.
       |   |__autosomal recessive congenital ichthyosis 9 1 rec.
       |   |__autosomal recessive congenital ichthyosis 10 2 rec.
       |   |__autosomal recessive congenital ichthyosis 11 3 rec.
       |   |__autosomal recessive congenital ichthyosis 13 2 rec.
       |   |__autosomal recessive congenital ichthyosis 14 1 rec.
       |__bladder exstrophy-epispadias-cloacal exstrophy complex
       |   |__bladder exstrophy
       |   |__cloacal exstrophy
       |__blepharophimosis
       |__caudal regression syndrome
       |__cleft palate-lateral synechia syndrome
       |__Compton-North congenital myopathy 1 rec.
       |__congenital adrenal hyperplasia 15 rec.
       |__congenital adrenal insufficiency 11 rec.
       |__congenital afibrinogenemia 4 rec.
       |__congenital amegakaryocytic thrombocytopenia
       |   |__congenital amegakaryocytic thrombocytopenia 1
       |   |__congenital amegakaryocytic thrombocytopenia 2
       |__congenital aphakia 3 rec.
       |__congenital bilateral absence of vas deferens 5 rec.
       |   |__autosomal recessive congenital bilateral absence of vas deferens 3 rec.
       |   |__X-linked congenital bilateral absence of vas deferens 2 rec.
       |__congenital bile acid synthesis defect 10 rec.
       |   |__congenital bile acid synthesis defect 1 1 rec.
       |   |__congenital bile acid synthesis defect 2 3 rec.
       |   |__congenital bile acid synthesis defect 3
       |   |__congenital bile acid synthesis defect 4 1 rec.
       |   |__congenital bile acid synthesis defect 5 1 rec.
       |   |__congenital bile acid synthesis defect 6 4 rec.
       |__congenital central hypoventilation syndrome 2 rec.
       |__congenital chylothorax
       |__congenital contractural arachnodactyly 2 rec.
       |__congenital diaphragmatic hernia 1 rec.
       |__congenital diarrhea 5 rec.
       |   |__congenital diarrhea 5 with tufting enteropathy
       |   |__congenital diarrhea 6 1 rec.
       |   |__congenital diarrhea 7 with exudative enteropathy 1 rec.
       |   |__congenital malabsorptive diarrhea 4 1 rec.
       |   |__microvillus inclusion disease 2 rec.
       |__congenital disorder of glycosylation 91 rec.
       |   |__alacrima, achalasia, and impaired intellectual development syndrome 1 rec.
       |   |__congenital disorder of glycosylation type I(+) 56 rec.
       |   |__congenital disorder of glycosylation type II(+) 31 rec.
       |__congenital epulis
       |__congenital fibrosarcoma
       |__congenital fibrosis of the extraocular muscles 8 rec.
       |   |__congenital fibrosis of the extraocular muscles 1 1 rec.
       |   |__congenital fibrosis of the extraocular muscles 2 2 rec.
       |   |__congenital fibrosis of the extraocular muscles 3A 5 rec.
       |   |__congenital fibrosis of the extraocular muscles 3C
       |   |__congenital fibrosis of the extraocular muscles 5
       |   |__Tukel syndrome
       |__congenital generalized lipodystrophy 22 rec.
       |   |__congenital generalized lipodystrophy type 1 2 rec.
       |   |__congenital generalized lipodystrophy type 2 2 rec.
       |   |__congenital generalized lipodystrophy type 3
       |   |__congenital generalized lipodystrophy type 4
       |__congenital granular cell tumor
       |__congenital heart block
       |__congenital heart defects, hamartomas of tongue, and polysyndactyly 1 rec.
       |__congenital heart disease 139 rec.
       |   |__coarctation of the aorta
       |   |__dextro-looped transposition of the great arteries
       |   |__dextrocardia
       |   |__heart septal defect(+) 21 rec.
       |   |__hypoplastic left heart syndrome 13 rec.
       |   |__hypoplastic right heart syndrome
       |   |__multiple types of congenital heart defects 6
       |   |__patent ductus arteriosus(+) 1 rec.
       |   |__scimitar syndrome
       |   |__tetralogy of Fallot 13 rec.
       |__congenital hemolytic anemia 34 rec.
       |   |__congenital dyserythropoietic anemia(+) 8 rec.
       |   |__congenital nonspherocytic hemolytic anemia(+) 19 rec.
       |   |__hemoglobinopathy(+)
       |   |__hereditary spherocytosis(+) 5 rec.
       |   |__X-linked congenital hemolytic anemia 2 rec.
       |__congenital hereditary endothelial dystrophy of cornea 2 rec.
       |__congenital hypogammaglobulinemia
       |__congenital hypoplastic anemia 51 rec.
       |   |__Fanconi anemia(+) 26 rec.
       |   |__pure red-cell aplasia(+) 25 rec.
       |__congenital hypothyroidism 30 rec.
       |   |__congenital nongoitrous hypothyroidism 1 1 rec.
       |   |__congenital nongoitrous hypothyroidism 2 1 rec.
       |   |__congenital nongoitrous hypothyroidism 3
       |   |__congenital nongoitrous hypothyroidism 4 1 rec.
       |   |__congenital nongoitrous hypothyroidism 5 2 rec.
       |   |__congenital nongoitrous hypothyroidism 6
       |   |__congenital nongoitrous hypothyroidism 7 1 rec.
       |   |__congenital nongoitrous hypothyroidism 8 1 rec.
       |   |__congenital nongoitrous hypothyroidism 9 1 rec.
       |   |__familial thyroid dyshormonogenesis(+) 22 rec.
       |__congenital hypotrichosis with juvenile macular dystrophy
       |__congenital intrinsic factor deficiency 1 rec.
       |__congenital lactase deficiency 1 rec.
       |__congenital leptin deficiency 5 rec.
       |__congenital megabladder 1 rec.
       |__congenital mesoblastic nephroma
       |   |__cellular congenital mesoblastic nephroma
       |   |__classic congenital mesoblastic nephroma
       |__congenital mirror movement disorder 6 rec.
       |   |__mirror movements 1 2 rec.
       |   |__mirror movements 2 1 rec.
       |   |__mirror movements 3 1 rec.
       |   |__mirror movements 4 2 rec.
       |__congenital muscular dystrophy 66 rec.
       |   |__Bethlem myopathy
       |   |__congenital merosin-deficient muscular dystrophy 1A 1 rec.
       |   |__congenital muscular dystrophy 1B
       |   |__congenital muscular dystrophy due to integrin alpha-7 deficiency 1 rec.
       |   |__congenital muscular dystrophy due to LMNA mutation 24 rec.
       |   |__congenital muscular dystrophy with cataracts and intellectual disability 2 rec.
       |   |__megaconial type congenital muscular dystrophy 1 rec.
       |   |__muscular dystrophy-dystroglycanopathy(+) 30 rec.
       |   |__rigid spine muscular dystrophy 1
       |   |__Ullrich congenital muscular dystrophy(+)
       |   |__Walker-Warburg syndrome 12 rec.
       |__congenital myasthenic syndrome 33 rec.
       |   |__congenital myasthenic syndrome 1A 7 rec.
       |   |__congenital myasthenic syndrome 1B 7 rec.
       |   |__congenital myasthenic syndrome 2A
       |   |__congenital myasthenic syndrome 2C
       |   |__congenital myasthenic syndrome 3A 1 rec.
       |   |__congenital myasthenic syndrome 3B 1 rec.
       |   |__congenital myasthenic syndrome 3C 1 rec.
       |   |__congenital myasthenic syndrome 4A
       |   |__congenital myasthenic syndrome 4B
       |   |__congenital myasthenic syndrome 4C
       |   |__congenital myasthenic syndrome 5
       |   |__congenital myasthenic syndrome 6 1 rec.
       |   |__congenital myasthenic syndrome 7 5 rec.
       |   |__congenital myasthenic syndrome 8 1 rec.
       |   |__congenital myasthenic syndrome 9 1 rec.
       |   |__congenital myasthenic syndrome 10
       |   |__congenital myasthenic syndrome 11 1 rec.
       |   |__congenital myasthenic syndrome 12 2 rec.
       |   |__congenital myasthenic syndrome 13 1 rec.
       |   |__congenital myasthenic syndrome 14 1 rec.
       |   |__congenital myasthenic syndrome 15 1 rec.
       |   |__congenital myasthenic syndrome 16 1 rec.
       |   |__congenital myasthenic syndrome 17 2 rec.
       |   |__congenital myasthenic syndrome 18 2 rec.
       |   |__congenital myasthenic syndrome 19 1 rec.
       |   |__congenital myasthenic syndrome 20 1 rec.
       |   |__congenital myasthenic syndrome 21 1 rec.
       |   |__congenital myasthenic syndrome 22 1 rec.
       |__congenital myopathy 4A 4 rec.
       |   |__X-linked congenital myopathy with fiber-type disproportion
       |__congenital nervous system abnormality 149 rec.
       |   |__anencephaly(+) 1 rec.
       |   |__holoprosencephaly(+) 12 rec.
       |   |__lissencephaly(+) 21 rec.
       |   |__microcephaly(+) 111 rec.
       |   |__periventricular nodular heterotopia 3 rec.
       |   |__subcortical band heterotopia 1 rec.
       |   |__tubulinopathy
       |__congenital nystagmus 8 rec.
       |   |__autosomal recessive congenital nystagmus(+) 6 rec.
       |   |__congenital nystagmus 1 1 rec.
       |   |__congenital nystagmus 2
       |   |__congenital nystagmus 3
       |   |__congenital nystagmus 5
       |   |__congenital nystagmus 6
       |   |__congenital nystagmus 7
       |__congenital ptosis
       |   |__hereditary congenital ptosis 1
       |   |__hereditary congenital ptosis 2
       |__congenital secretory chloride diarrhea 1 1 rec.
       |__congenital secretory sodium diarrhea 3 1 rec.
       |__congenital secretory sodium diarrhea 8 1 rec.
       |__congenital stationary night blindness 23 rec.
       |   |__congenital stationary night blindness 1A 2 rec.
       |   |__congenital stationary night blindness 1B 4 rec.
       |   |__congenital stationary night blindness 1C 1 rec.
       |   |__congenital stationary night blindness 1D 1 rec.
       |   |__congenital stationary night blindness 1E 3 rec.
       |   |__congenital stationary night blindness 1F 1 rec.
       |   |__congenital stationary night blindness 1G 1 rec.
       |   |__congenital stationary night blindness 1H 2 rec.
       |   |__congenital stationary night blindness 2A 1 rec.
       |   |__congenital stationary night blindness autosomal dominant 1
       |   |__congenital stationary night blindness autosomal dominant 2 1 rec.
       |   |__congenital stationary night blindness autosomal dominant 3 1 rec.
       |   |__Oguchi disease-1 4 rec.
       |   |__Oguchi disease-2 1 rec.
       |__congenital stromal corneal dystrophy 1 rec.
       |__congenital structural myopathy 25 rec.
       |   |__centronuclear myopathy(+) 18 rec.
       |__congenital sucrase-isomaltase deficiency 1 rec.
       |__congenital syphilis
       |   |__early congenital syphilis
       |   |__late congenital syphilis
       |__congenital toxoplasmosis
       |__congenital vertical talus 1 rec.
       |__cryptophthalmia 1 rec.
       |   |__isolated cryptophthalmia(+) 1 rec.
       |__developmental cardiac valvular defect 1 rec.
       |__epidermolysis bullosa with congenital localized absence of skin and deformity of nails
       |__gastroschisis
       |__Gollop-Wolfgang complex
       |__hypospadias 1 rec.
       |__imperforate anus
       |__Klippel-Feil syndrome 2 rec.
       |   |__Klippel-Feil syndrome 1
       |   |__Klippel-Feil syndrome 2 1 rec.
       |   |__Klippel-Feil syndrome 3
       |   |__Klippel-Feil syndrome 4 1 rec.
       |__large congenital melanocytic nevus 1 rec.
       |__laryngomalacia
       |__Leber congenital amaurosis 34 rec.
       |   |__Leber congenital amaurosis 1 3 rec.
       |   |__Leber congenital amaurosis 2 1 rec.
       |   |__Leber congenital amaurosis 3
       |   |__Leber congenital amaurosis 4 1 rec.
       |   |__Leber congenital amaurosis 5 1 rec.
       |   |__Leber congenital amaurosis 6
       |   |__Leber congenital amaurosis 7 2 rec.
       |   |__Leber congenital amaurosis 8 3 rec.
       |   |__Leber congenital amaurosis 9 1 rec.
       |   |__Leber congenital amaurosis 10 1 rec.
       |   |__Leber congenital amaurosis 11 1 rec.
       |   |__Leber congenital amaurosis 12
       |   |__Leber congenital amaurosis 13 8 rec.
       |   |__Leber congenital amaurosis 14
       |   |__Leber congenital amaurosis 15 1 rec.
       |   |__Leber congenital amaurosis 16 2 rec.
       |   |__Leber congenital amaurosis 17
       |   |__Leber congenital amaurosis 19 1 rec.
       |__lethal congenital contracture syndrome 4 rec.
       |   |__lethal congenital contracture syndrome 1 1 rec.
       |   |__lethal congenital contracture syndrome 2 1 rec.
       |   |__lethal congenital contracture syndrome 3 2 rec.
       |   |__lethal congenital contracture syndrome 4
       |__lethal congenital glycogen storage disease of heart 1 rec.
       |__linear skin defects with multiple congenital anomalies 1 1 rec.
       |__linear skin defects with multiple congenital anomalies 2
       |__linear skin defects with multiple congenital anomalies 3 1 rec.
       |__Meckel's diverticulum
       |__multiple congenital anomalies-hypotonia-seizures syndrome 15 rec.
       |   |__multiple congenital anomalies-hypotonia-seizures syndrome 1 5 rec.
       |   |__multiple congenital anomalies-hypotonia-seizures syndrome 2 8 rec.
       |   |__multiple congenital anomalies-hypotonia-seizures syndrome 3 1 rec.
       |   |__multiple congenital anomalies-hypotonia-seizures syndrome 4 1 rec.
       |__myotonia congenita 16 rec.
       |   |__Becker disease 1 rec.
       |   |__Thomsen disease 1 rec.
       |__neonatal diabetes mellitus with congenital hypothyroidism 1 rec.
       |__neural tube defect 17 rec.
       |   |__parietal foramina 3 rec.
       |   |__spina bifida(+)
       |__non-congenital cyst of kidney
       |__nonsyndromic congenital nail disorder 3 rec.
       |   |__nonsyndromic congenital nail disorder 1 1 rec.
       |   |__nonsyndromic congenital nail disorder 2
       |   |__nonsyndromic congenital nail disorder 3 2 rec.
       |   |__nonsyndromic congenital nail disorder 4
       |   |__nonsyndromic congenital nail disorder 5
       |   |__nonsyndromic congenital nail disorder 6
       |   |__nonsyndromic congenital nail disorder 7
       |   |__nonsyndromic congenital nail disorder 8
       |   |__nonsyndromic congenital nail disorder 9
       |__omphalocele
       |__orofacial cleft 16 rec.
       |   |__cleft lip
       |   |__cleft palate(+) 6 rec.
       |   |__oblique facial clefting 1 1 rec.
       |   |__orofacial cleft 1
       |   |__orofacial cleft 2
       |   |__orofacial cleft 3
       |   |__orofacial cleft 4
       |   |__orofacial cleft 5 2 rec.
       |   |__orofacial cleft 6
       |   |__orofacial cleft 7
       |   |__orofacial cleft 8 1 rec.
       |   |__orofacial cleft 9
       |   |__orofacial cleft 10 1 rec.
       |   |__orofacial cleft 11 1 rec.
       |   |__orofacial cleft 12
       |   |__orofacial cleft 13
       |   |__orofacial cleft 14
       |   |__orofacial cleft 15 1 rec.
       |__palmoplantar keratoderma and congenital alopecia 1
       |__palmoplantar keratoderma and congenital alopecia 2
       |__pancreatic hypoplasia-diabetes-congenital heart disease syndrome 3 rec.
       |__Poland syndrome
       |__polydactyly 1 rec.
       |   |__preaxial polydactyly I 1 rec.
       |   |__preaxial polydactyly II
       |   |__preaxial polydactyly type IV 1 rec.
       |__primary congenital glaucoma 3 rec.
       |   |__hydrophthalmos(+) 2 rec.
       |__radioulnar synostosis 1 rec.
       |__rapidly involuting congenital hemangioma
       |__renal-hepatic-pancreatic dysplasia 1 rec.
       |__severe congenital encephalopathy due to MECP2 mutation 2 rec.
       |__severe congenital neutropenia 17 rec.
       |   |__autosomal dominant severe congenital neutropenia(+) 3 rec.
       |   |__severe congenital neutropenia 1 9 rec.
       |   |__severe congenital neutropenia 3 1 rec.
       |   |__severe congenital neutropenia 4 1 rec.
       |   |__severe congenital neutropenia 5 1 rec.
       |   |__severe congenital neutropenia 6 1 rec.
       |   |__severe congenital neutropenia 7
       |   |__X-linked severe congenital neutropenia 1 rec.
       |__Silver-Russell syndrome
       |__spondyloepiphyseal dysplasia with congenital joint dislocations 2 rec.
       |__T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1 rec.
       |__TORCH syndrome
       |__visceral heterotaxy 17 rec.
       |   |__right atrial isomerism
       |   |__visceral heterotaxy 1 1 rec.
       |   |__visceral heterotaxy 2
       |   |__visceral heterotaxy 3
       |   |__visceral heterotaxy 4 1 rec.
       |   |__visceral heterotaxy 5 2 rec.
       |   |__visceral heterotaxy 6 1 rec.
       |   |__visceral heterotaxy 7 2 rec.
       |   |__visceral heterotaxy 8 5 rec.
       |   |__visceral heterotaxy 9 1 rec.
       |   |__visceral heterotaxy 10 1 rec.
       |   |__visceral heterotaxy 11 2 rec.
       |   |__visceral heterotaxy 12 1 rec.
       |   |__visceral heterotaxy 13
       |   |__visceral heterotaxy 14
       |__Zika virus congenital syndrome 16 rec.
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