Genetic diseases-O
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- OA see Ocular albinism
- OA see Osteoarthritis
- OAS see Ophthalmo-acromelic syndrome
- OAT deficiency see Gyrate atrophy of the choroid and retina
- OAV complex see Craniofacial microsomia
- OAVS see Craniofacial microsomia
- Oberklaid-Danks syndrome see Bohring-Opitz syndrome
- obesity due to congenital leptin deficiency see Congenital leptin deficiency
- obesity due to leptin receptor gene deficiency see Leptin receptor deficiency
- obesity, early-onset, adrenal insufficiency, and red hair see Proopiomelanocortin deficiency
- obesity, morbid, due to leptin deficiency see Congenital leptin deficiency
- obesity, morbid, due to leptin receptor deficiency see Leptin receptor deficiency
- obesity, morbid, nonsyndromic 1 see Congenital leptin deficiency
- obesity, morbid, nonsyndromic 2 see Leptin receptor deficiency
- obesity, severe, due to leptin deficiency see Congenital leptin deficiency
- obesity-hypotonia syndrome see Cohen syndrome
- Obsessive-compulsive disorder
- obsessive-compulsive neurosis see Obsessive-compulsive disorder
- obstetric cholestasis see Intrahepatic cholestasis of pregnancy
- obstructive apnea see Obstructive sleep apnea
- obstructive disease of the pulmonary veins see Pulmonary veno-occlusive disease
- Obstructive sleep apnea
- obstructive sleep apnea syndrome see Obstructive sleep apnea
- OCA see Oculocutaneous albinism
- occlusive infantile arteriopathy see Generalized arterial calcification of infancy
- occupational cramp see Task-specific focal dystonia
- occupational dystonia see Task-specific focal dystonia
- OCD see Familial osteochondritis dissecans
- OCD see Obsessive-compulsive disorder
- Ochoa syndrome
- Ocular albinism
- ocular coloboma see Coloboma
- ocular retraction syndrome see Isolated Duane retraction syndrome
- ocular rosacea see Rosacea
- 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
- oculo-oto-facial dysplasia see Burn-McKeown syndrome
- oculo-skeletal-abdominal syndrome see 3MC syndrome
- oculoauriculovertebral spectrum see Craniofacial microsomia
- oculocerebrofacial syndrome, Kaufman type see Kaufman oculocerebrofacial syndrome
- oculocerebrorenal syndrome see Lowe syndrome
- oculocerebrorenal syndrome of Lowe see Lowe syndrome
- Oculocutaneous albinism
- oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
- Oculodentodigital dysplasia
- oculodentodigital syndrome see Oculodentodigital dysplasia
- oculodentoosseous dysplasia see Oculodentodigital dysplasia
- Oculofaciocardiodental syndrome
- Oculogastrointestinal muscular dystrophy see Mitochondrial neurogastrointestinal encephalopathy disease
- oculootofacial dysplasia see Burn-McKeown syndrome
- oculopalatoskeletal syndrome see 3MC syndrome
- oculopharyngeal dystrophy see Oculopharyngeal muscular dystrophy
- 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
- oestrogen synthetase deficiency see Aromatase deficiency
- OFCD syndrome see Oculofaciocardiodental syndrome
- OFDS see Oral-facial-digital syndrome
- OGD see Osteoglophonic dysplasia
- OGIMD see Mitochondrial neurogastrointestinal encephalopathy disease
- Ohaha syndrome see Infantile-onset spinocerebellar ataxia
- Ohdo syndrome, Maat-Kievit-Brunner type
- Ohdo syndrome, MKB type see Ohdo syndrome, Maat-Kievit-Brunner type
- Ohdo syndrome, Say-Barber-Biesecker variant see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
- Ohdo syndrome, SBBYS variant see 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
- old-aged sensorineural hearing impairment see Age-related hearing loss
- Oligophrenia microphthalmus see Norrie disease
- olivopontocerebellar atrophy I see Spinocerebellar ataxia type 1
- Ollier disease
- Ollier's syndrome see Ollier disease
- Omenn syndrome
- Omenn's syndrome see Omenn syndrome
- omphalocele see Abdominal wall defect
- ONCR see Renal coloboma syndrome
- Ondine Syndrome see Congenital central hypoventilation syndrome
- Ondine-Hirschsprung disease see Congenital central hypoventilation syndrome
- onychauxis, hyponychia, and onycholysis see Nonsyndromic congenital nail disorder 10
- OOFD see Burn-McKeown syndrome
- OPA3 see Autosomal dominant optic atrophy and cataract
- OPA3 defect see Costeff syndrome
- OPA3, autosomal dominant see Autosomal dominant optic atrophy and cataract
- 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
- Ophthalmo-acromelic syndrome
- ophthalmoacromelic syndrome see Ophthalmo-acromelic syndrome
- ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis see Infantile-onset spinocerebellar ataxia
- ophthalmoplegia, progressive external, and scoliosis see Horizontal gaze palsy with progressive scoliosis
- opiate addiction see Opioid addiction
- opiate dependence see Opioid addiction
- Opioid addiction
- opioid dependence see Opioid addiction
- Opitz BBB syndrome see Opitz G/BBB syndrome
- Opitz BBB/G syndrome see Opitz G/BBB syndrome
- Opitz G syndrome see Opitz G/BBB syndrome
- Opitz G/BBB syndrome
- Opitz syndrome see Opitz G/BBB syndrome
- Opitz trigonocephaly-like syndrome see Bohring-Opitz syndrome
- Opitz-Frias syndrome see Opitz G/BBB syndrome
- Opitz-Kaveggia syndrome see FG syndrome
- OPMD see Oculopharyngeal muscular dystrophy
- Oppenheim dystonia see Early-onset primary dystonia
- Oppenheim's dystonia see Early-onset primary dystonia
- OPPG see Osteoporosis-pseudoglioma syndrome
- optic atrophy and cataract, autosomal dominant see Autosomal dominant optic atrophy and cataract
- optic atrophy plus syndrome see Costeff syndrome
- Optic atrophy type 1
- optic atrophy type 3 see Autosomal dominant optic atrophy and cataract
- optic atrophy, autosomal dominant see Optic atrophy type 1
- optic atrophy, cataract, and neurologic disorder see Autosomal dominant optic atrophy and cataract
- optic atrophy, hereditary, autosomal dominant see Optic atrophy type 1
- optic atrophy, juvenile see Optic atrophy type 1
- optic atrophy, Kjer type see 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
- opticoacoustic nerve atrophy with dementia see Deafness-dystonia-optic neuronopathy syndrome
- opticospinal MS see Neuromyelitis optica
- Oral-facial-digital syndrome
- oral-mandibular-auricular syndrome see Craniofacial microsomia
- ORAS see Otulipenia
- Ormond disease see Retroperitoneal fibrosis
- Ormond's disease see Retroperitoneal fibrosis
- ornithine aminotransferase deficiency see Gyrate atrophy of the choroid and retina
- Ornithine Carbamoyltransferase Deficiency Disease see Ornithine transcarbamylase deficiency
- ornithine keto acid aminotransferase deficiency see Gyrate atrophy of the choroid and retina
- Ornithine transcarbamylase deficiency
- Ornithine translocase deficiency
- ornithine-delta-aminotransferase deficiency see Gyrate atrophy of the choroid and retina
- 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
- Orthostatic hypotension
- OSA see Obstructive sleep apnea
- OSA syndrome see 3MC syndrome
- OSAHS see Obstructive sleep apnea
- OSAS see Obstructive sleep apnea
- Osler-Vaquez disease see Polycythemia vera
- Osler-Weber-Rendu syndrome see Hereditary hemorrhagic telangiectasia
- OSMED see Otospondylomegaepiphyseal dysplasia
- osseous Paget's disease see Paget disease of bone
- osseous-oculo-dental dysplasia see Oculodentodigital dysplasia
- osteitis deformans see Paget disease of bone
- osteitis fibrosa disseminata see McCune-Albright syndrome
- Osteoarthritis
- osteoarthritis deformans see Osteoarthritis
- osteoarthrosis see Osteoarthritis
- osteochalasia desmalis familiaris see Juvenile Paget disease
- osteochondritis dissecans, short stature, and early-onset osteoarthritis see Familial osteochondritis dissecans
- 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 with unusual skeletal lesions see Gnathodiaphyseal dysplasia
- osteogenesis imperfecta, Levin type see Gnathodiaphyseal dysplasia
- osteogenesis imperfecta, ocular form see Osteoporosis-pseudoglioma syndrome
- osteoglophonic dwarfism see Osteoglophonic dysplasia
- Osteoglophonic dysplasia
- osteoma cutis see Progressive osseous heteroplasia
- osteopathia condensans disseminata see Buschke-Ollendorff syndrome
- osteopetroses see Osteopetrosis
- Osteopetrosis
- Osteoporosis-pseudoglioma syndrome
- osteosis cutis see Progressive osseous heteroplasia
- Osterreicher syndrome see Nail-patella syndrome
- oto-palato-digital syndrome, type I see Otopalatodigital syndrome type 1
- oto-palato-digital syndrome, type II see Otopalatodigital syndrome type 2
- 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
- OTULIN-related autoinflammatory syndrome see Otulipenia
- Otulipenia
- Ovarian cancer
- ovarian carcinoma see Ovarian cancer
- ovarian dysgenesis with sensorineural deafness see Perrault syndrome
- Owren disease see Factor V deficiency
- Owren's disease see Factor V deficiency
- oxalosis see Primary hyperoxaluria
- oxaluria, primary see Primary hyperoxaluria
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