Disorders: O

Disorders Alternate Names Genes Inheritance Pattern
Oculoauricular Syndrome HMX1 autosomal recessive
Oculocerebral Syndrome with Hypopigmentation Cross syndrome, Kramer syndrome, OCHS del(3)(q27.1-1q29) locus autosomal recessive?
Oculodentodigital Dysplasia oculodentoosseous dysplasia, ODDD, ODOD GJA1 autosomal dominant, autosomal recessive
Oculomotor Apraxia Cogan-type congenital oculomotor apraxia, COMA, congenital saccade initiation failure ? autosomal dominant?, autosomal recessive?
Oculootofacial Dysplasia BMKS, Burn-McKeown syndrome, OOFD TXNL4A autosomal recessive
Oculopharyngeal Muscular Dystrophy oculoskeletal myopathy, OPMD PABPN1 autosomal dominant
Oculopharyngodistal Myopathy OPDM ? autosomal dominant
Oguchi Disease, Type 1 congenital stationary night blindness Oguchi type 1 SAG autosomal recessive
Oguchi Disease, Type 2 congenital stationary night blindness Oguchi type 2 GRK1 autosomal recessive
Optic Atrophy 1 juvenile optic atrophy, Kjer-type optic atrophy, OAK OPA1 autosomal dominant
Optic Atrophy 10 OPA10 RTN4IP1 autosomal recessive
Optic Atrophy 11 OPA11 YME1L1 autosomal recessive
Optic Atrophy 2, X-Linked X-linked optic atrophy OPA2 X-linked recessive
Optic Atrophy 3 and Cataracts OPA3 autosomal dominant, optic atrophy and cataract OPA3 autosomal dominant
Optic Atrophy 4 OPA4, optic atrophy-4 OPA4 autosomal dominant
Optic Atrophy 5 OPA5 22q12.1-q13.1 locus autosomal dominant
Optic Atrophy 6 congenital or early infantile optic atrophy, OPA6 OPA6 autosomal recessive
Optic Atrophy 7 OPA7 TMEM126A autosomal recessive
Optic Atrophy 9 OPA9 ACO2 autosomal recessive
Optic Atrophy with Intellectual Disability Bosch-Boonstra-Schaaf optic atrophy syndrome NR2F1 autosomal dominant
Optic Atrophy, Areflexia, Ataxia, Hearing Loss CAPOS ATP1A3 autosomal dominant
Optic Atrophy, Ophthalmoplegia, Myopathy, and Neuropathy DOA+, dominant optic atrophy plus syndrome OPA1 autosomal dominant
Optic Nerve Edema, Splenomegaly, Cytopenias splenomegaly cytopenias and vision loss ? autosomal dominant?
Optic Nerve Hypoplasia, Bilateral optic nerve aplasia PAX6 autosomal dominant
Organoid Nevus Syndrome linear nevus sebaceous of Jadassohn, nevus sebaceous of Jadassohn, organoid nevus phakomatosis, Schimmelpenning-Feuerstein-Mims syndrome, SFM syndrome ? ?
Orofaciodigital Syndrome IX Gurrieri syndrome, OFD9, OFDS-IX, orofaciodigital syndrome with retinal abnormalities ? autosomal recessive?
Orofaciodigital Syndrome, Type VI OFDVI, Varadi syndrome C5orf42, TMEM216 autosomal recessive?
Osteogenesis Imperfecta brittle bone syndrome, OI, osteogenesis imperfecta COL1A1, COL1A2 autosomal dominant
Osteogenesis Imperfecta, Type VII lethal osteogenesis imperfecta, OI type VII, OI7 CRTAP autosomal recessive
Osteoporosis-Pseudoglioma Syndrome ocular osteogenesis imperfecta, OPPG, OPS LRP5 autosomal recessive