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OA see ocular albinism
OAT deficiency see gyrate atrophy of the choroid and retina
Obesity
obesity-hypotonia syndrome see Cohen syndrome
OCA see oculocutaneous albinism
ocular albinism
ocular retraction syndrome see isolated Duane retraction syndrome
oculo-dento-digital dysplasia see oculodentodigital dysplasia
oculo-dento-osseous dysplasia see oculodentodigital dysplasia
oculo-digito-esophagoduodental (ODED) syndrome see Feingold syndrome
Oculo-facio-cardio-dental syndrome see oculofaciocardiodental syndrome
Oculocerebrorenal Syndrome see Lowe syndrome
oculocutaneous albinism
Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
oculodentodigital dysplasia
oculodentoosseous dysplasia see oculodentodigital dysplasia
oculofaciocardiodental syndrome
Oculogastrointestinal muscular dystrophy see mitochondrial neurogastrointestinal encephalopathy disease
oculopharyngeal muscular dystrophy
ODD syndrome see oculodentodigital dysplasia
ODDD see oculodentodigital dysplasia
ODOD see oculodentodigital dysplasia
OFCD syndrome see oculofaciocardiodental syndrome
OGIMD see mitochondrial neurogastrointestinal encephalopathy disease
3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
OI see osteogenesis imperfecta
Okihiro syndrome see Duane-radial ray syndrome
OKS see FG syndrome
OKT deficiency see gyrate atrophy of the choroid and retina
Oligophrenia microphthalmus see Norrie disease
ONCR see renal coloboma syndrome
Ondine-Hirschsprung disease see congenital central hypoventilation syndrome
Ondine Syndrome see congenital central hypoventilation syndrome
OPD syndrome, type 1 see otopalatodigital syndrome type 1
OPD syndrome, type 2 see otopalatodigital syndrome type 2
ophthalmoplegia, progressive external, and scoliosis see horizontal gaze palsy with progressive scoliosis
Ophthalmoplegia, Supraoptic Vertical see Niemann-Pick disease
Opitz G/BBB syndrome
Opitz-Kaveggia syndrome see FG syndrome
OPMD see oculopharyngeal muscular dystrophy
Oppenheim dystonia see early-onset primary dystonia
Optic Atrophy, Autosomal Dominant see optic atrophy type 1
optic atrophy type 1
optic coloboma, vesicoureteral reflux, and renal anomalies see renal coloboma syndrome
optic nerve coloboma renal syndrome see renal coloboma syndrome
ornithine aminotransferase deficiency see gyrate atrophy of the choroid and retina
ornithine-delta-aminotransferase deficiency see gyrate atrophy of the choroid and retina
ornithine keto acid aminotransferase deficiency see gyrate atrophy of the choroid and retina
ornithine transcarbamylase deficiency
ornithine translocase deficiency
Ornithinemia with gyrate atrophy see gyrate atrophy of the choroid and retina
Osler-Rendu Disease see hereditary hemorrhagic telangiectasia
Osler-Rendu-Weber disease see hereditary hemorrhagic telangiectasia
Osler's disease see hereditary hemorrhagic telangiectasia
OSMED see otospondylomegaepiphyseal dysplasia
osseous-oculo-dental dysplasia see oculodentodigital dysplasia
osteitis fibrosa disseminata see McCune-Albright syndrome
Osteoarthritis
Osteochondroma
Osteochondromatosis see hereditary multiple exostoses
Osteodermia see progressive osseous heteroplasia
osteodysplasty of Melnick and Needles see Melnick-Needles syndrome
osteogenesis imperfecta see Melnick-Needles syndrome; osteogenesis imperfecta
Osteoma cutis see progressive osseous heteroplasia
Osteoporosis
Osteosclerosis congenita see achondroplasia
Osteosis cutis see progressive osseous heteroplasia
Osterreicher Syndrome see nail-patella syndrome
Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
otospondylomegaepiphyseal dysplasia
Oxalosis see primary hyperoxaluria
Oxaluria, Primary see primary hyperoxaluria
5-oxoprolinemia see glutathione synthetase deficiency
5-oxoprolinuria see glutathione synthetase deficiency


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