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Rare Disease Database

Search Results for: O

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Ocular Albinism

Also known as: Nettleship-Falls ocular albinism, OA1, ocular albinism type 1, X-linked ocular albinism, XLOA

Oculo-Auriculo-Vertebral Spectrum

Also known as: Facio-Auriculo-Vertebral Spectrum, FAV, First and Second Branchial Arch Syndrome, Goldenhar-Gorlin Syndrome, OAVS, OAV Spectrum, Oculo-Auriculo-Vertebral Dysplasia

Oculo-Dento-Digital Dysplasia

Also known as: Dento-Oculo-Osseous Dysplasia, Oculodentodigital Dysplasia, Oculo Dento Digital Dysplasia, Oculo-Dento-Osseous Dysplasia, ODDD, ODD Syndrome, ODOD, Osseous-Oculo-Dento Dysplasia

Oculocerebrocutaneous Syndrome

Also known as: Delleman-Oorthuys syndrome, Delleman syndrome, OCCS, OCC syndrome, orbital cyst with cerebral and focal dermal malformations

Oculocutaneous Albinism

Also known as: brown oculocutaneous albinism, minimal pigment oculocutaneous albinism, OCA1, OCA1A, OCA1B, OCA3, OCA4, oculocutaneous albinism type 1B, platinum oculocutaneous albinism, rufous oculocutaneous albinism, temperature-sensitive oculocutaneous albinism, tyrosinase-negative oculocutaneous albinism, tyrosinase-positive oculocutaneous albinism, tyrosinase-related OCA, yellow oculocutaneous albinism, OCA5, OCA6, OCA7, oculocutaneous albinism type 1A

Ogilvie syndrome

Also known as: ACPO, acute colonic pseudo-obstruction, colonic pseudo-obstruction, Ogilvie's syndrome

Ollier Disease

Also known as: dyschondroplasia, enchondromatosis, multiple cartilaginous enchondroses, multiple enchondromatosis

Opsoclonus-Myoclonus Syndrome

Also known as: dancing eyes-dancing feet, dancing eye syndrome (term usually used in UK), Kinsbourne syndrome, myoclonic encephalopathy, Kinsbourne type, OMAS, OMS, opsoclonic encephalopathy

Orocraniodigital Syndrome

Also known as: Cleft Lip/Palate with Abnormal Thumbs and Microcephaly, Cranio-Oro-Digital Syndrome, Digital-Oro-Cranio Syndrome, Juberg Hayward Syndrome

OSMED, Heterozygous

Also known as: Oto-Spondylo-Megaepiphyseal Dysplasia, Autosomal Dominant, Oto-Spondylo-Megaepiphyseal Dysplasia, Heterozygous, Pierre-Robin Syndrome with Fetal Chondrodysplasia, Stickler Syndrome Type III, Weissenbacher-Zweymuller Syndrome, WZS

OSMED, Homozygous

Also known as: Nance-Sweeney syndrome, oto-spondylo-megaepiphyseal dysplasia, autosomal recessive, oto-spondylo-megaepiphyseal dysplasia, homozygous

Osteogenesis Imperfecta

Also known as: Brittle Bone Disease, Ekman-Lobstein Disease, Lobstein Disease (Type I), OI, Vrolik Disease (Type II)


Also known as: direct or contiguous osteomyelitis.


Also known as: aseptic necrosis, avascular necrosis of bone, ischemic necrosis of bone


Also known as: Albers-Schonberg disease, marble bone disease , osteosclerosis fragilis generalisata