Health Conditions - Genetics Home Reference: O | Published: January 24, 2017

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• OA, see ocular albinism
• 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
• obstetric cholestasis, see intrahepatic cholestasis of pregnancy
• obstructive disease of the pulmonary veins, see pulmonary veno-occlusive disease
• 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
• 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
• 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
• Oligophrenia microphthalmus, see Norrie disease
• olivopontocerebellar atrophy I, see spinocerebellar ataxia type 1
• Ollier disease
• Ollier's syndrome, see Ollier disease
• 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
• OOFD, see Burn-McKeown syndrome
• OPA3 defect, see Costeff 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
• 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
• 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 plus syndrome, see Costeff syndrome
• optic atrophy type 1
• optic atrophy, autosomal dominant, see optic atrophy type 1
• 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
• 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
• OSA syndrome, see 3MC syndrome
• 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
• 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