Genetic diseases-O

• 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