O

OA1
OAFNS
OAS
OAV dysplasia
OAVS
OAV spectrum
Oberklaid-Danks syndrome
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Obesity due to CEP19 deficiency
Obesity due to congenital leptin deficiency
Obesity due to congenital leptin resistance
Obesity due to leptin receptor gene deficiency
Obesity due to melanocortin 4 receptor deficiency
Obesity due to prohormone convertase I deficiency
Obesity due to pro-opiomelanocortin deficiency
Obesity due to SIM1 deficiency
Oblique facial cleft
Obliterative bronchiolitis
Obliterative portal venopathy
Obrinsky syndrome
OBSOLETE: Adenoid cystic carcinoma of the corpus uteri
OBSOLETE: Aleukemic mast cell leukemia
OBSOLETE: Classic mast cell leukemia
OBSOLETE: Ito hypomelanosis
OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia
OBSOLETE: Peripheral resistance to thyroid hormones
Obstructed hemivagina and ipsilateral renal anomaly
OCA
OCA1
OCA1A
OCA1B
OCA1-MP
OCA1-TS
OCA2
OCA3
OCA4
OCA5
OCA6
OCA7
Occipital atretic cephalocele-unusual facies-large feet syndrome
Occipital encephalocele
Occipital horn syndrome
Occipital malformations of cortical development
Occipital MCD
Occipital pachygyria and polymicrogyria
Occlusive idiopathic juxtafoveolar retinal telangiectasis
Occlusive infantile arteriopathy
OCCS
Occult ectopic ACTH secretion
Occult macular dystrophy
Occult neuropathic bladder
Occupational allergic alveolitis
Ochoa syndrome
OCMD
OCR
OCRL
OCT deficiency
Ocular albinism
Ocular albinism, Nettleship-Falls type
Ocular albinism type 1
Ocular albinism with congenital sensorineural deafness
Ocular albinism with late-onset sensorineural deafness
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Ocular cicatricial pemphigoid
Ocular cystinosis
Ocular form of osteogenesis imperfecta
Ocular motor apraxia, Cogan type
Ocular-scoliotic EDS
Ocular-scoliotic EDS
Oculoauricular syndrome, Schorderet type
Oculoauriculofrontonasal syndrome
Oculoauriculovertebral dysplasia
Oculo-auriculo-vertebral spectrum
Oculoauriculovertebral spectrum with radial defects
Oculoauriculovertebral syndrome
Oculocerebral hypopigmentation syndrome, Cross type
Oculocerebral hypopigmentation syndrome, Preus type
Oculocerebrocutaneous syndrome
Oculocerebrodental syndrome
Oculo-cerebro-dental syndrome
Oculocerebrofacial syndrome, Kaufman type
Oculocerebrorenal dystrophy
Oculo-cerebro-renal dystrophy
Oculo-cerebro-renal syndrome
Oculocerebrorenal syndrome of Lowe
Oculocutaneous albinism
Oculocutaneous albinism, Amish type
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Oculocutaneous albinism type 5
Oculocutaneous albinism type 6
Oculocutaneous albinism type 7
Oculocutaneous or ocular albinism
Oculocutaneous tyrosinemia
Oculodental syndrome, Rutherfurd type
Oculodentodigital dysplasia
Oculodentoosseous dysplasia
Oculo-digito-esophageal-duodenal syndrome
Oculo-digito-esophageal-duodenal syndrome type 1
Oculoectodermal syndrome
Oculofaciocardiodental syndrome
Oculogastrointestinal muscular dystrophy
Oculomandibulofacial syndrome
Oculomaxillofacial dysostosis
Oculomelic amyoplasia
Oculomotor apraxia
Oculomotor apraxia, Cogan type
Oculoosteocutaneous syndrome
Oculootodental syndrome
Oculo-oto-radial syndrome
Oculo-palato-cerebral dwarfism
Oculo-palato-cerebral syndrome
Oculopharyngeal distal myopathy
Oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy
Oculorenocerebellar syndrome
Oculotrichoanal syndrome
Oculotrichodysplasia
ODCD
ODDD syndrome
ODED syndrome
ODED syndrome type 1
O’Doherty syndrome
O’Donnell-Pappas syndrome
Odontochondrodysplasia
Odontogenic keratocystoma
Odontohypophosphatasia
Odontoleukodystrophy
Odontomatosis-aortae esophagus stenosis syndrome
Odontomicronychial dysplasia
Odonto-onycho-dermal dysplasia
Odonto-onycho dysplasia-alopecia syndrome
Odontotrichomelic syndrome
Odonto-tricho-ungual-digito-palmar syndrome
Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
ODP
OEIS complex
OFCD syndrome
OFC syndrome
OFD
OFD
OFD1
OFD10
OFD11
OFD12
OFD13
OFD14
OFD18
OFD2
OFD3
OFD4
OFD5
OFD6
OFD8
OFD9
OFDI
OFDSI
Off-periods in Parkinson disease not responding to oral treatment
OGCT of pancreas
Ogden syndrome
Oguchi disease
Oguchi syndrome
Ohaha syndrome
Ohdo-Madokoro-Sonoda syndrome
Ohdo syndrome
OHSS
Ohtahara syndrome
OHVIRA syndrome
OI
OI type 1
OI type 2
OI type 3
OI type 4
OI type 5
Okamoto syndrome
Okihiro syndrome
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
Okihiro syndrome due to del(20)(q13)
Okihiro syndrome due to monosomy 20q13
OL-EDA-ID
Olfacto-genital pathological sequence
Olfactory neuroblastoma
Oligoarticular JIA
Oligoarticular JIA with anti-nuclear antibodies
Oligoarticular JIA without anti-nuclear antibodies
Oligoarticular juvenile idiopathic arthritis
Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies
Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies
Oligoastrocytic tumor
Oligoastrocytoma
Oligocone syndrome
Oligocone trichromacy
Oligodendroglial tumor
Oligodendroglioma
Oligodontia
Oligodontia-cancer predisposition syndrome
Oligomeganephronia
Oligomeganephronic renal hypoplasia
Oligophrenin-1 syndrome
Oligosaccharidosis
Oliver-McFarlane syndrome
Oliver syndrome
Olivopontocerebellar atrophy-deafness syndrome
Olivopontocerebellar hypoplasia
Ollier disease
Olmsted syndrome
OMA syndrome
OMD
Omenn syndrome
OMM syndrome
Omodysplasia
Omphalocele
Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Omphalocele syndrome, Shprintzen-Goldberg type
Omphalomesenteric cyst
OMPP
OMS
Omsk hemorrhagic fever
Onat syndrome
Onchocerciasis
Oncocytic cardiomyopathy
Oncogenic hypophosphatemic osteomalacia
Oncogenic osteomalacia
Ondine curse
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
Ondine syndrome
Onychocytic matricoma
Onycho-digito-mammary syndrome
Onychomatricoma
Onychoosteodysplasia
OOCHS
OOD
OODD
OPA2
OPA3, autosomal dominant
Opalescent teeth without OI
Opalescent teeth without osteogenesis imperfecta
OPD II syndrome
OPD I syndrome
OPDM
OPD spectrum disorder
OPD syndrome 1
OPD syndrome 2
Open iniencephaly
OPHN1 syndrome
Ophthalmoacromelic syndrome
Ophthalmomandibulomelic dysplasia
Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Opitz-Caltabiano syndrome
Opitz C trigonocephaly
Opitz-Frias syndrome
Opitz G/BBB syndrome
Opitz-Kaveggia syndrome
Opitz syndrome
Opitz trigonocephaly C syndrome
Opitz trigonocephaly-like syndrome
Opitz trigonocephaly syndrome
OPMD
Oppenheim dystonia
Oppenheim-Urbach disease
OPPG
OPSD
Opsismodysplasia
Opsoclonus-myoclonus-ataxia syndrome
Opsoclonus-myoclonus syndrome
Optic ataxia-gaze apraxia-simultanagnosia syndrome
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-intellectual disability syndrome
Optic atrophy type 1
Optic atrophy type 2
Optic disc pit
Optic nerve edema-splenomegaly syndrome
Optic pathway glioma
Oral antidiabetic drugs toxicity or dose selection
Oral dysesthesia
Oral erosive lichen
Oral-facial-digital syndrome
Oral-facial-digital syndrome, Edwards type
Oral-facial-digital syndrome, Gabrielli type
Oral-facial-digital syndrome type 1
Oral-facial-digital syndrome type 10
Oral-facial-digital syndrome type 11
Oral-facial-digital syndrome type 12
Oral-facial-digital syndrome type 13
Oral-facial-digital syndrome type 14
Oral-facial-digital syndrome type 18
Oral-facial-digital syndrome type 2
Oral-facial-digital syndrome type 3
Oral-facial-digital syndrome type 4
Oral-facial-digital syndrome type 5
Oral-facial-digital syndrome type 6
Oral-facial-digital syndrome type 8
Oral-facial-digital syndrome type 9
Oral-facial-digital syndrome with retinal abnormalities
Oral-facial-digital syndrome with short stature and brachymesophalangy
Oral submucous fibrosis
ORAS
Orbital cyst with cerebral and focal dermal malformations
Orbital leiomyoma
Orbital medulloepithelioma
Orbitofacial cleft
ORC syndrome
Organic aciduria
Organoid nevus syndrome
Orgasm-induced seizures
Ormond disease
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency
Ornithine carrier deficiency
Ornithine decarboxylase deficiency
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
ORNT1 deficiency
Oroacral syndrome
Orocraniodigital syndrome
Orodynia
Orofacial clefting syndrome
Orofaciodigital syndrome
Orofaciodigital syndrome, Edwards type
Orofaciodigital syndrome, Gabrielli type
Orofaciodigital syndrome, Thurston type
Orofaciodigital syndrome type 1
Orofaciodigital syndrome type 10
Orofaciodigital syndrome type 11
Orofaciodigital syndrome type 12
Orofaciodigital syndrome type 13
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 18
Orofaciodigital syndrome type 2
Orofaciodigital syndrome type 3
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 5
Orofaciodigital syndrome type 6
Orofaciodigital syndrome type 8
Orofaciodigital syndrome type 9
Orofaciodigital syndrome with fibular aplasia
Orofaciodigital syndrome with retinal abnormalities
Oromandibular dystonia
Oromandibular-limb anomalies syndrome
Oromandibular-limb hypogenesis syndrome
Oropharyngeal teratoma
Orotidylic decarboxylase deficiency
Oroya fever
Orthostatic intolerance due to NET deficiency
Osebold-Remondini syndrome
Osgood-Schlatter disease
OSLAM syndrome
Osler-Vaquez disease
OSMED
OSMF
Osseous venous malformation
Ossification anomalies-psychomotor developmental delay syndrome
Osteitis condensans of the clavicle
Osteoblastoma
Osteochondritis dissecans
Osteochondritis dissecans and short stature
Osteochondritis of phalangeal epiphyses
Osteochondritis of tarsal/metatarsal bone
Osteochondritis of the capital femoral epiphysis
Osteochondritis of the lunate bone
Osteochondritis of the tibial tubercle
Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Osteochondromuscular dystrophy
Osteochondrosis
Osteochondrosis deformans tibiae
Osteochondrosis of genetic origin
Osteochondrosis of patella
Osteochondrosis of phalangeal epiphyses
Osteochondrosis of the capital femoral epiphysis
Osteochondrosis of the capital humerus
Osteochondrosis of the lunate bone
Osteochondrosis of the metatarsal bone
Osteochondrosis of the tarsal bone
Osteochondrosis of the tarsal bone
Osteochondrosis of the tibial tubercle
Osteoclastic giant cell tumor of pancreas
Osteoclastoma
Osteocraniosplenic syndrome
Osteocraniostenosis
Osteofibrous dysplasia
Osteogenesis imperfecta
Osteogenesis imperfecta-congenital joint contractures syndrome
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Osteogenesis imperfecta type 5
Osteogenic sarcoma
Osteoglophonic dwarfism
Osteoglosphonic dysplasia
Osteomesopyknosis
Osteomyelofibrosis
Osteonecrosis
Osteonecrosis of genetic origin
Osteonecrosis of the jaw
Osteopathia striata-cranial sclerosis syndrome
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Osteopenia-intellectual disability-sparse hair syndrome
Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
Osteopetrosis and related disorders
Osteopetrosis autosomal dominant type 2
Osteopetrosis-hypogammaglobulinemia syndrome
Osteopetrosis with renal tubular acidosis
Osteopoikilosis-short stature-intellectual disability syndrome
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Osteoporosis-oculocutaneous hypopigmentation syndrome
Osteoporosis-pseudoglioma syndrome
Osteopsathyrosis
Osteoradionecrosis of the mandible
Osteosarcoma
Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
Osteosclerosis-developmental delay-craniosynostosis syndrome
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Osteosclerotic metaphyseal dysplasia
Osteosclerotic myeloma
Ostravik-Lindemann-Solberg syndrome
O’Sullivan-McLeod syndrome
OTC deficiency
OTCS
Other acquired skin disease
Other dermis disorder
Other epidermal disorder
Other genetic dermis disorder
Other genetic epidermal disease
Other immunodeficiency syndromes due to defects in innate immunity
Other immunodeficiency syndrome with predominantly antibody defects
Other metabolic disease
Other metabolic disease with epilepsy
Other metabolic disease with skin involvement
Other rare diabetes mellitus
Other syndrome with a central nervous system malformation as major feature
Other syndrome with lissencephaly as a major feature
Otodental dysplasia
Otodental syndrome
Otofaciocervical syndrome
Otomandibular dysostosis
Otomandibular dysplasia
Otomandibular dysplasia associated with monogenic syndromes
Otomandibular syndrome
Otoonychoperoneal syndrome
Otopalatodigital syndrome spectrum disorder
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Otospondylomegaepiphyseal dysplasia
OTUDP syndrome
OTULIN deficiency
OTULIN-related autoinflammatory syndrome
Otulipenia
Oudtshoorn disease
Ouvrier-Billson syndrome
Ovarian adenocarcinoma
Ovarian cancer
Ovarian carcinosarcoma
Ovarian clear cell adenocarcinoma
Ovarian epithelial cancer
Ovarian fibroma
Ovarian fibrothecoma
Ovarian germ cell cancer
Ovarian hyperstimulation syndrome
Ovarian immature teratoma
Ovarian malignant epithelial tumor
Ovarian malignant mixed epithelial mesenchymal tumor
Ovarian malignant mixed Müllerian tumor
Ovarian malignant non-epithelial tumor
Ovarian malignant Sertoli-Leydig cell tumor
Ovarian malignant teratoma
Ovarian malignant tumor
Ovarian mucinous adenocarcinoma
Ovarian non-epithelial cancer
Ovarian Sertoli-Leydig cell cancer
Ovarian tumor of low malignant potential
Ovarioleukodystrophy
Overgrowth-macrocephaly-facial dysmorphism syndrome
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Overgrowth/obesity syndrome
Overgrowth or tall stature syndrome with skeletal involvement
Overgrowth syndrome
Overgrowth syndrome with 2q37 translocation
Overhydrated hereditary stomatocytosis
Overlap myositis
Overlapping connective tissue disease
Overlap syndromes of autoimmune liver diseases
Owren disease
OXCT1 deficiency
Oxoglutaric aciduria
Oxoprolinuria due to oxoprolinase deficiency
OXPHOS disease
OXPHOS disease due to a duplication of mitochondrial DNA
OXPHOS disease due to a duplication of mtDNA
OXPHOS disease due to a large-scale single deletion of mitochondrial DNA
OXPHOS disease due to a large-scale single deletion of mtDNA
OXPHOS disease due to a point mutation of mitochondrial DNA
OXPHOS disease due to a point mutation of mtDNA
OXPHOS disease due to mitochondrial DNA anomalies
OXPHOS disease due to mtDNA anomalies
OXPHOS disease due to nDNA anomalies
OXPHOS disease due to nuclear DNA anomalies
OXPHOS disease with no known mechanism
Oxysterol 7-alpha-hydroxylase deficiency

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