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