Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Night Blindness, Congenital Stationary, CSNB2B | CABP4 | CSNB, type 2B night blindness with myopia, CSNB2B | 610427 | autosomal recessive |
| Night Blindness, Congenital Stationary, CSNBAD1 | RHO | CSNB, type AD1 night blindness, CSNBAD1 | 610445 | autosomal dominant |
| Night Blindness, Congenital Stationary, CSNBAD2 | PDE6B | CSNB, type AD2 night blindness, CSNBAD2, Rambusch type congenital stationary night blindness | 163500 | autosomal dominant |
| Night Blindness, Congenital Stationary, CSNBAD3 | GNAT1 | CSNB, type AD3 night blindness, CSNBAD3, Nougaret type congenital stationary night blindness, CSNB1G | 610444, 616389 | autosomal dominant |
| Noonan Syndrome | PTPN11, SOS1, KRAS, RAF1, BRAF, MEK1, NRAS, LZTR1 | male Turner syndrome, female pseudo-Turner syndrome, NS1, NS2, NS3, NS4, NS5, NS6, NS7 | 605275, 163950, 610733, 611553, 609942, 613224, 605275, 613706 | autosomal dominant, autosomal recessive |
| Norrie Disease | NDP | Episkopi blindness, atrophia bulborum hereditaria, ND | 310600 | X-linked recessive |
| Nystagmus 1, Congenital, X-linked | FRMD7 | nystagmus 1, infantile nystagmus, congenital motor nystagmus 1, idiopathic infantile nystagmus, NYS1 | 310700 | X-linked recessive |
| Nystagmus 2, Congenital, AD | ? | nystagmus congenital motor 2, NYS2 | 164100 | autosomal dominant |
| Nystagmus 3, Congenital, AD | ? | NYS3 | 608345 | autosomal dominant |
| Nystagmus 4, AD | ? | vestibulocerebellar disorder with ocular signs, NYS4 | 193003 | autosomal dominant? |
| Nystagmus 5, Congenital, X-linked | ? | NYS5 | 300589 | X-linked dominant |
| Nystagmus 6, Congenital, X-linked | GPR143 | NYS6 | 300814 | X-linked recessive |
| Nystagmus 7, Congenital, AD | ? | NYS7 | 614826 | autosomal dominant |
| Nystagmus-Split Hand Syndrome | ? | KNS, Karsch-Neugebauer syndrome, split-hand with congenital nystagmus fundal changes and cataracts, congenital central limb ray deficiency | 183800 | autosomal dominant |
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Oculoauricular Syndrome | HMX1 | 612109 | autosomal recessive | |
| Oculocerebral Syndrome with Hypopigmentation | del(3)(q27.1-1q29) locus | Cross syndrome, Kramer syndrome, OCHS | 257800 | autosomal recessive? |
| Oculodentodigital Dysplasia | GJA1 | ODDD, ODOD, oculodentoosseous dysplasia | 257850, 164200 | autosomal recessive, autosomal dominant |
| Oculomotor Apraxia | ? | COMA, congenital saccade initiation failure, Cogan-type congenital oculomotor apraxia | 257550 | autosomal dominant?, autosomal recessive? |
| Oculootofacial Dysplasia | TXNL4A | Burn-McKeown syndrome, BMKS, OOFD | 608572 | autosomal recessive |
| Oculopharyngeal Muscular Dystrophy | PABPN1 | oculoskeletal myopathy, OPMD | 164300 | autosomal dominant |
| Oculopharyngodistal Myopathy | ? | OPDM | 164310 | autosomal dominant |
| Oguchi Disease, Type 1 | SAG | congenital stationary night blindness Oguchi type 1 | 258100 | autosomal recessive |
| Oguchi Disease, Type 2 | GRK1 | congenital stationary night blindness Oguchi type 2 | 180381 | autosomal recessive |
| Optic Atrophy 1 | OPA1 | juvenile optic atrophy, Kjer-type optic atrophy, OAK | 165500, 125250 | autosomal dominant |
| Optic Atrophy 10 | RTN4IP1 | OPA10 | 616732 | autosomal recessive |
| Optic Atrophy 11 | YME1L1 | OPA11 | 617302 | autosomal recessive |
| Optic Atrophy 2, X-Linked | OPA2 | X-linked optic atrophy | 311050 | X-linked recessive |
| Optic Atrophy 3 and Cataracts | OPA3 | optic atrophy and cataract, OPA3 autosomal dominant | 165300, 258501 | autosomal dominant |
| Optic Atrophy 4 | OPA4 | OPA4, optic atrophy-4 | 605293 | autosomal dominant |
| Optic Atrophy 5 | DNM1L | OPA5 | 610708 | autosomal dominant |
| Optic Atrophy 6 | OPA6 | congenital or early infantile optic atrophy, OPA6 | 258500 | autosomal recessive |
| Optic Atrophy 7 | TMEM126A | OPA7 | 612989 | autosomal recessive |
| Optic Atrophy 9 | ACO2 | OPA9 | 616289 | autosomal recessive |
| Optic Atrophy with Intellectual Disability | NR2F1 | Bosch-Boonstra-Schaaf optic atrophy syndrome | 615722 | autosomal dominant |
| Optic Atrophy, Areflexia, Ataxia, Hearing Loss | ATP1A3 | CAPOS | 601338 | autosomal dominant |
| Optic Atrophy, Ophthalmoplegia, Myopathy, and Neuropathy | OPA1 | dominant optic atrophy plus syndrome, DOA+ | 125250 | autosomal dominant |
| Optic Nerve Edema, Splenomegaly, Cytopenias | ? | splenomegaly cytopenias and vision loss | autosomal dominant? | |
| Optic Nerve Hypoplasia, Bilateral | PAX6 | optic nerve aplasia | 165550 | autosomal dominant |
| Organoid Nevus Syndrome | ? | SFM syndrome, nevus sebaceous of Jadassohn, organoid nevus phakomatosis, linear nevus sebaceous of Jadassohn, Schimmelpenning-Feuerstein-Mims syndrome | 163200 | ? |
| Orofaciodigital Syndrome IX | ? | OFD9, Gurrieri syndrome, OFDS-IX, orofaciodigital syndrome with retinal abnormalities | 258865 | autosomal recessive? |