Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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orofacial cleft 4 |
nonsyndromic cleft lip with or without cleft palat..
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An orofacial cleft that has_material_basis_in vari..[+]
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orofacial cleft 5 |
nonsyndromic cleft lip with or without cleft palat..
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An orofacial cleft that has_material_basis_in muta..[+]
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orofacial cleft 7 |
Zlotogora-Ogur syndrome
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An orofacial cleft that has_material_basis_in by h..[+]
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orofacial cleft 9 |
nonsyndromic cleft lip with or without cleft palat..
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An orofacial cleft that has_material_basis_in vari..[+]
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orofacial cleft 10 |
nonsyndromic cleft lip with or without cleft palat..
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An orofacial cleft that has_material_basis_in muta..[+]
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orofacial cleft 11 |
nonsyndromic cleft lip with or without cleft palat..
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An orofacial cleft that has_material_basis_in hete..[+]
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orofacial cleft 12 |
nonsyndromic cleft lip with or without cleft palat..
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An orofacial cleft that has_material_basis_in vari..[+]
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ovarian dysgenesis 2 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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oculocutaneous albinism type VI |
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An oculocutaneous albinism that has_material_basis..[+]
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optic disc anomalies with retinal and/or macular dystrophy |
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A microphthalmia that has_material_basis_in homozy..[+]
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otospondylomegaepiphyseal dysplasia, autosomal dominant |
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An osteochondrodysplasia that is characterized by ..[+]
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Opitz GBBB syndrome |
Opitz GBBB syndrome type I; Opitz G/BBB Syndrome
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A syndrome that is a congenital midline malformati..[+]
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occupational asthma |
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An environmental induced asthma that is characteri..[+]
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optic atrophy 12 |
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An optic atrophy that is characterized by slowly p..[+]
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omodysplasia 1 |
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An omodysplasia that is characterized by severe co..[+]
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omodysplasia 2 |
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An omodysplasia that is characterized by shortened..[+]
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ocular motor apraxia, Cogan type |
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An eye disease that is characterized by defective ..[+]
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osteosclerotic metaphyseal dysplasia |
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A metaphyseal dysplasia that is characterized by d..[+]
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oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 |
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An IDH-mutant, and 1p/19q-codeleted oligodendrogli..[+]
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oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 |
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An IDH-mutant, and 1p/19q-codeleted oligodendrogli..[+]
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oculopharyngodistal myopathy |
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A myopathy that is characterized by progressive ex..[+]
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oculopharyngodistal myopathy 1 |
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An oculopharyngodistal myopathy that is characteri..[+]
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oculopharyngodistal myopathy 2 |
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An oculopharyngodistal myopathy that is characteri..[+]
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oculopharyngodistal myopathy 3 |
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An oculopharyngodistal myopathy that is characteri..[+]
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oculopharyngodistal myopathy 4 |
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An oculopharyngodistal myopathy that is characteri..[+]
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oxoglutarate dehydrogenase deficiency |
Oxoglutaric aciduria; alpha-ketoglutarate dehydrog..
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An amino acid metabolic disorder that is character..[+]
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organophosphate-induced delayed polyneuropathy |
organophosphate induced delayed polyneuropathy
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An inflammatory and toxic neuropathy that is chara..[+]
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ocular albinism with sensorineural deafness |
autosomal recessive Waardenburg syndrome type 2 wi..
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An ocular albinism that is characterized by deafne..[+]
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osteogenesis imperfecta type 1 |
OI1; osteogenesis imperfecta type I
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An osteogenesis imperfecta that is characterized b..[+]
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osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures |
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An osteogenesis imperfecta found in a single South..[+]
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osteogenesis imperfecta type 8 |
osteogenesis imperfecta type VIII; OI8
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 7 |
OI7; osteogenesis imperfecta type VII
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 17 |
osteogenesis imperfecta type XVII; OI17
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 3 |
An osteogenesis imperfecta that is characterized b..[+]
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osteogenesis imperfecta type 4 |
An osteogenesis imperfecta that is characterized b..[+]
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osteogenesis imperfecta type 2 |
An osteogenesis imperfecta that is characterized b..[+]
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osteogenesis imperfecta type 13 |
osteogenesis imperfecta type XIII; OI13
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 14 |
OI14; osteogenesis imperfecta type XIV
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 5 |
osteogenesis imperfecta type V; OI5
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 16 |
An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 10 |
osteogenesis imperfecta type X; OI10
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 15 |
osteogenesis imperfecta type XV; OI15
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 12 |
osteogenesis imperfecta type XII; OI12
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 9 |
osteogenesis imperfecta type IX; OI9
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 6 |
osteogenesis imperfecta type VI; OI6
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An osteogenesis imperfecta that has_material_basis..[+]
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osteogenesis imperfecta type 11 |
osteogenesis imperfecta type XI; OI11
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An osteogenesis imperfecta that has_material_basis..[+]
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Oguchi disease-1 |
congenital stationary night blindness Oguchi type ..
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A hereditary night blindness characterized by cong..[+]
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Oguchi disease-2 |
congenital stationary night blindness Oguchi type ..
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A hereditary night blindness characterized by cong..[+]
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oligomeganephronia |
Oligomeganephronic renal hypoplasia
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A renal hypoplasia characterized by bilateral redu..[+]
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Oliver-McFarlane syndrome |
OMCS; long eyelashes-intellectual disability syndr..
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A syndrome characterized by trichomegaly, severe c..[+]
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