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Y-Z
OA
see
ocular albinism
OAT deficiency
see
gyrate atrophy of the choroid and retina
OAV complex
see
craniofacial microsomia
OAVS
see
craniofacial microsomia
Obesity
obesity-hypotonia syndrome
see
Cohen syndrome
obstetric cholestasis
see
intrahepatic cholestasis of pregnancy
OCA
see
oculocutaneous albinism
occupational cramp
see
task-specific focal dystonia
occupational dystonia
see
task-specific focal dystonia
OCD
see
familial osteochondritis dissecans
Ochoa syndrome
ocular albinism
ocular coloboma
see
coloboma
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
oculoauriculovertebral spectrum
see
craniofacial microsomia
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
OD
see
familial osteochondritis dissecans
ODD syndrome
see
oculodentodigital dysplasia
ODDD
see
oculodentodigital dysplasia
ODOD
see
oculodentodigital dysplasia
OFCD syndrome
see
oculofaciocardiodental syndrome
OFDS
see
oral-facial-digital syndrome
OGIMD
see
mitochondrial neurogastrointestinal encephalopathy disease
3-OH 3-CH3 glutaric aciduria
see
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-OH 3-methyl glutaric aciduria
see
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Ohaha syndrome
see
infantile-onset spinocerebellar ataxia
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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
Old Silk Route disease
see
Behçet disease
Oligophrenia microphthalmus
see
Norrie disease
olivopontocerebellar atrophy I
see
spinocerebellar ataxia type 1
ONCR
see
renal coloboma syndrome
Ondine-Hirschsprung disease
see
congenital central hypoventilation syndrome
Ondine Syndrome
see
congenital central hypoventilation syndrome
OPCA
see
multiple system atrophy
OPCH
see
pontocerebellar hypoplasia
OPD syndrome, type 1
see
otopalatodigital syndrome type 1
OPD syndrome, type 2
see
otopalatodigital syndrome type 2
open spine
see
spina bifida
ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis
see
infantile-onset spinocerebellar ataxia
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
OPPG
see
osteoporosis-pseudoglioma syndrome
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
optic-spinal MS
see
neuromyelitis optica
opticospinal MS
see
neuromyelitis optica
oral-facial-digital syndrome
oral-mandibular-auricular syndrome
see
craniofacial microsomia
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
oro-facio-digital syndrome
see
oral-facial-digital syndrome
orodigitofacial dysostosis
see
oral-facial-digital syndrome
orodigitofacial syndrome
see
oral-facial-digital syndrome
orofaciodigital syndrome
see
oral-facial-digital syndrome
Osler-Rendu Disease
see
hereditary hemorrhagic telangiectasia
Osler-Rendu-Weber disease
see
hereditary hemorrhagic telangiectasia
Osler-Vaquez disease
see
polycythemia vera
Osler's disease
see
hereditary hemorrhagic telangiectasia
OSMED
see
otospondylomegaepiphyseal dysplasia
osseous-oculo-dental dysplasia
see
oculodentodigital dysplasia
osseous Paget's disease
see
Paget disease of bone
osteitis deformans
see
Paget disease of bone
osteitis fibrosa disseminata
see
McCune-Albright syndrome
Osteoarthritis
osteochalasia desmalis familiaris
see
juvenile Paget disease
Osteochondritis Dissecans
see
familial osteochondritis dissecans
osteochondritis dissecans, short stature, and early-onset osteoarthritis
see
familial osteochondritis dissecans
Osteochondroma
Osteochondromatosis
see
hereditary multiple exostoses
Osteodermia
see
progressive osseous heteroplasia
osteodysplastic primordial dwarfism type II
see
microcephalic osteodysplastic primordial dwarfism type II
osteodysplasty of Melnick and Needles
see
Melnick-Needles syndrome
osteoectasia with hyperphosphatasia
see
juvenile Paget disease
osteogenesis imperfecta
osteogenesis imperfecta, ocular form
see
osteoporosis-pseudoglioma syndrome
Osteoma cutis
see
progressive osseous heteroplasia
osteopetroses
see
osteopetrosis
osteopetrosis
Osteoporosis
osteoporosis-pseudoglioma syndrome
Osteosis cutis
see
progressive osseous heteroplasia
Osterreicher Syndrome
see
nail-patella syndrome
Oto-spondylo-megaepiphyseal dysplasia
see
otospondylomegaepiphyseal dysplasia
otogenic vertigo
see
Ménière disease
otomandibular dysostosis
see
craniofacial microsomia
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
otospondylomegaepiphyseal dysplasia
Ovarian Disorders
see
fragile X-associated primary ovarian insufficiency
Oxalosis
see
primary hyperoxaluria
Oxaluria, Primary
see
primary hyperoxaluria
3-oxoacid CoA transferase deficiency
see
succinyl-CoA:3-ketoacid CoA transferase deficiency
5-oxoprolinemia
see
glutathione synthetase deficiency
5-oxoprolinuria
see
glutathione synthetase deficiency
Published: February 11, 2013