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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
oculosympathetic palsy see Horner syndrome
OD see familial osteochondritis dissecans
ODD syndrome see oculodentodigital dysplasia
ODDD see oculodentodigital dysplasia
ODOD see oculodentodigital dysplasia
odontoleukodystrophy see Pol III-related leukodystrophy
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, Maat-Kievit-Brunner type
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
Owren disease see factor V deficiency
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