Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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orofaciodigital syndrome XVII |
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An orofaciodigital syndrome that has_material_basi..[+]
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ovarian sex-cord stromal tumor |
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A sex cord-gonadal stromal tumor that arises from ..[+]
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ovarian sex cord-stromal benign neoplasm |
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A sex cord-stromal benign neoplasm that arises fro..[+]
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orofacial cleft 1 |
nonsyndromic cleft lip with or without cleft palat..
[+]
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An orofacial cleft characterized by autosomal domi..[+]
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orofacial cleft 2 |
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 3 |
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 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 8 |
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An orofacial cleft that has_material_basis_in hete..[+]
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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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orofacial cleft 13 |
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An orofacial cleft characterized by autosomal doni..[+]
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orofacial cleft 14 |
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An orofacial cleft that is characterized by incomp..[+]
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orofacial cleft 15 |
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An orofacial cleft that has_material_basis_in muta..[+]
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ovarian dysgenesis 1 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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ovarian dysgenesis 2 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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ovarian dysgenesis 3 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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ovarian dysgenesis 4 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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ovarian dysgenesis 5 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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ovarian dysgenesis 6 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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ovarian dysgenesis 7 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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ovarian dysgenesis 8 |
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A 46 XX gonadal dysgenesis that has_material_basis..[+]
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orofacial cleft 6 |
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An orofacial cleft that has_material_basis_in vari..[+]
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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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