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Ocular Albinism

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

Subdivisions: X-linked congenital nystagmus 6 (NYS6)

Ocular Melanoma

Also known as: OM

Subdivisions: choroidal melanoma, iris melanoma, uveal melanoma

Ocular Motor Apraxia, Cogan Type

Also known as: COMA, Congenital Oculomotor Apraxia, oculomotor apraxia, Cogan type, saccade initiation failure, congenital

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

Subdivisions: Goldenhar Syndrome, Hemifacial Microsomia (HFM), Oculo-Auriculo-Vertebral Disorder

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

Oculocerebral Syndrome with Hypopigmentation

Also known as: Cross-McKusick-Breen Syndrome, Cross Syndrome, Depigmentation-Gingival Fibromatosis-Microphthalmia, Kramer Syndrome

Oculocerebrocutaneous Syndrome

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

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

Subdivisions: oculocutaneous albinism type IA (OCA1A), oculocutaneous albinism type IB (OCA1B), oculocutaneous albinism type II (OCA2), oculocutaneous albinism type III (OCA3), oculocutaneous albinism type IV (OCA4), oculocutaneous albinism type V (OCA5), oculocutaneous albinism type VI (OCA6), oculocutaneous albinism type VII (OCA7)

Oculopharyngeal Muscular Dystrophy

Also known as: autosomal dominant OPMD, autosomal recessive OPMD, OPMD

Ogilvie syndrome

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

Olivopontocerebellar Atrophy

Subdivisions: hereditary OPCA, sporadic OPCA

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

Optic Nerve Hypoplasia

Also known as: DeMorsier syndrome, ONH, septooptic dysplasia, SOD

Subdivisions: No subdivisions found

Oral-Facial-Digital Syndrome

Also known as: OFD syndrome, orofaciodigital syndrome

Subdivisions: OFDS type III (Sugarman syndrome), OFDS type II (Mohr syndrome), OFDS type I (Papillon-Leage-Psaume syndrome), OFDS type IV (Baraitser-Burn syndrome), OFDS type IX (OFD syndrome with retinal abnormalities/Gurrieri syndrome), OFDS type VIII (Edwards syndrome), OFDS type VI (Varadi-Papp syndrome), OFDS type V (Thurston syndrome), OFDS type X (OFD with fibular aplasia/Figuera syndrome), OFDS type XI (Gabrielli syndrome/Toriello syndrome), OFDS type XII (Moran-Barroso syndrome), OFDS type XIII (Degner syndrome), OFDS type XIV

Ornithine Transcarbamylase Deficiency

Also known as: hyperammonemia due to ornithine transcarbamylase deficiency, ornithine carbamyltransferase deficiency, OTC deficiency

Orocraniodigital Syndrome

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

Orthostatic Hypotension

Also known as: postural hypotension

Subdivisions: neurogenic orthostatic hypotension (NOH)

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, brittle bone dysplasia, OI

Subdivisions: collagen type OI, non-collagen type OI

Osteomyelitis

Also known as: direct or contiguous osteomyelitis.

Subdivisions: hematogenous (blood-borne) osteomyelitis, anaerobic osteomyelitis, osteomyelitis due to vascular insufficiency, osteomyelitis, pyogenic, acute, osteomyelitis, pyogenic, chronic, vertebral osteomyelitis

Osteonecrosis

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

Osteopetrosis

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

Subdivisions: osteopetrosis, autosomal dominant; adult type (ADO), osteopetrosis, autosomal recessive; malignant infantile type (ARO), osteopetrosis, intermediate autosomal (IAO), osteopetrosis, X-linked recessive (XLO)

Osteosarcoma

Also known as: osteogenic sarcoma

Otopalatodigital Syndrome Type I and II

Also known as: cranioorodigital syndrome, faciopalatoosseous syndrome, FPO, OPD syndrome, Taybi syndrome

Subdivisions: OPD syndrome, type I, OPD syndrome, type II

Ovarian Cancer

Subdivisions: high-grade serous ovarian carcinoma (HGSOC), epithelial ovarian cancer (EOC), fallopian tube carcinoma, peritoneal carcinoma

Ovotesticular Disorder of Sex Development

Also known as: ovotesticular DSD, true gonadal intersex, true hermaphroditism

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