O
226 rare conditions. 44 with a recruiting study in our latest snapshot.
O'Sullivan-McLeod syndromeView →
Obesity due to CEP19 deficiencyView →
Obesity due to congenital leptin deficiencyView →
Obesity due to congenital leptin resistanceView →
Obesity due to leptin receptor gene deficiency1 recruitingView →
Obesity due to melanocortin 4 receptor deficiencyView →
Obesity due to pro-opiomelanocortin deficiencyView →
Obesity due to prohormone convertase I deficiencyView →
Obesity due to SIM1 deficiencyView →
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndromeEndocrineView →
OBSOLETE: Ocular colobomaRetired termView →
OBSOLETE: Oculo-skeletal-renal syndromeRenalRetired termView →
OBSOLETE: Oculocerebral dysplasiaRetired termView →
OBSOLETE: Oculocerebroacral syndromeRetired termView →
OBSOLETE: Oculocerebroosseous syndromeRetired termView →
OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodiesRetired termView →
OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodiesRetired termView →
OBSOLETE: Onycho-patellar syndrome with eye involvementRetired termView →
OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndromeRenalRetired termView →
OBSOLETE: Orofaciodigital syndrome type 10Retired termView →
OBSOLETE: Orofaciodigital syndrome type 12Retired termView →
OBSOLETE: Orofaciodigital syndrome type 13Retired termView →
OBSOLETE: Osteochondritis of tarsal/metatarsal boneRetired termView →
OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndromeOphthalmologicalRetired termView →
OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndromeRetired termView →
OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndromeRetired termView →
OBSOLETE: Other complex syndrome of primary immunodeficiencyImmuneRetired termView →
OBSOLETE: Other forms of non-paraneoplastic limbic encephalitisRetired termView →
OBSOLETE: Other ganglionopathy related to autoimmune diseasesImmuneRetired termView →
OBSOLETE: Other immunodeficiency syndrome with predominantly antibody defectsImmuneRetired termView →
OBSOLETE: Other muscle weakness and/or chronic muscle painRetired termView →
OBSOLETE: Otopalatodigital syndromeRetired termView →
Occipital encephaloceleView →
Occipital horn syndromeView →
Occipital pachygyria and polymicrogyriaNeurologicalView →
Occult macular dystrophyOphthalmologicalView →
Ocular albinism with congenital sensorineural deafnessView →
Ocular albinism with late-onset sensorineural deafnessView →
Ocular anomalies-axonal neuropathy-developmental delay syndromeView →
Ocular cicatricial pemphigoid3 recruitingView →
Ocular cystinosis1 recruitingView →
Ocular motor apraxia, Cogan typeView →
Ocular siderosisView →
Ocular surface squamous neoplasia2 recruitingView →
Oculo-auriculo-vertebral spectrum3 recruitingView →
Oculo-oto-facial dysplasiaView →
Oculo-palato-cerebral syndromeView →
Oculoauricular syndrome, Schorderet typeView →
Oculoauriculofrontonasal syndromeView →
Oculoauriculovertebral spectrum with radial defectsView →
Oculocerebral hypopigmentation syndrome, Cross type45 recruitingView →
Oculocerebral hypopigmentation syndrome, Preus type16 recruitingView →
Oculocerebrocutaneous syndromeView →
Oculocerebrofacial syndrome, Kaufman typeView →
Oculocerebrorenal syndrome of Lowe3 recruitingRenalView →
Oculocutaneous albinism type 11 recruitingView →
Oculocutaneous albinism type 1A1 recruitingView →
Oculocutaneous albinism type 1BView →
Oculocutaneous albinism type 2View →
Oculocutaneous albinism type 3View →
Oculocutaneous albinism type 4View →
Oculocutaneous albinism type 5View →
Oculocutaneous albinism type 6View →
Oculocutaneous albinism type 7View →
Oculocutaneous albinism type 8View →
Oculocutaneous or ocular albinismGroupView →
Oculodental syndrome, Rutherfurd typeView →
Oculodentodigital dysplasiaView →
Oculoectodermal syndromeView →
Oculofaciocardiodental syndromeView →
Oculogastrointestinal muscular dystrophy2 recruitingNeuromuscularView →
Oculogastrointestinal-neurodevelopmental syndromeView →
Oculomaxillofacial dysostosisConnective TissueView →
Oculomotor apraxiaGroupView →
Oculoosteocutaneous syndromeView →
Oculootodental syndromeView →
Oculopharyngeal Muscular Dystrophy4 recruitingNeuromuscularView →
Oculopharyngodistal myopathyNeuromuscularView →
Oculoskeletodental syndromeView →
Oculotrichoanal syndromeView →
OculotrichodysplasiaView →
Odonto-onycho dysplasia-alopecia syndromeView →
Odonto-onycho-dermal dysplasiaView →
Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndromeView →
Odonto-tricho-ungual-digito-palmar syndromeView →
OdontochondrodysplasiaView →
Odontohypophosphatasia1 recruitingView →
OdontoleukodystrophyNeurologicalView →
Odontomatosis-aortae esophagus stenosis syndromeView →
Odontomicronychial dysplasiaView →
Odontotrichomelic syndromeView →
Ogden syndromeView →
Oguchi disease2 recruitingView →
Okamoto syndromeView →
Okihiro syndrome1 recruitingView →
Okihiro syndrome due to 20q13 microdeletionView →
Okihiro syndrome due to a point mutationView →
Okur-Chung neurodevelopmental syndromeView →
Oley syndromeView →
Oligoarticular juvenile idiopathic arthritisView →
Oligoastrocytoma3 recruitingView →
Oligocone trichromacyView →
Oligodendroglioma23 recruitingOncologyView →
OligodontiaView →
Oligodontia-cancer predisposition syndromeView →
OligomeganephroniaRenalView →
OligosaccharidosisGroupView →
Oliver syndromeView →
Olivopontocerebellar atrophy-deafness syndrome1 recruitingNeurologicalView →
Ollier disease5 recruitingView →
Omenn syndrome3 recruitingView →
OmodysplasiaView →
Omphalocele2 recruitingView →
Omphalocele syndrome, Shprintzen-Goldberg typeView →
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndromeView →
Omphalomesenteric cystView →
Omsk hemorrhagic feverView →
Onchocerciasis5 recruitingView →
Oncogenic osteomalacia1 recruitingView →
Onycho-tricho-dysplasia-neutropenia syndromeBloodView →
Onychocytic matricomaView →
OnychomatricomaView →
Open iniencephalyView →
Open spinal dysraphism with a myelomeningocele1 recruitingView →
Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndromeOphthalmologicalView →
Ophthalmomandibulomelic dysplasiaOphthalmologicalView →
Ophthalmoplegia-intellectual disability-lingua scrotalis syndromeOphthalmologicalView →
Opitz GBBB syndromeView →
OpsismodysplasiaView →
Opsoclonus-myoclonus syndromeView →
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeNeurologicalView →
Optic atrophy-intellectual disability syndrome3 recruitingView →
Optic disc pitView →
Optic pathway glioma2 recruitingOncologyView →
Oral submucous fibrosis2 recruitingView →
Orbital leiomyomaView →
Organic aciduriaMetabolicGroupView →
Orgasm-induced epilepsyNeurologicalView →
Ornithine transcarbamylase deficiency9 recruitingView →
Orofacial clefting syndromeGroupView →
Orofacial clefting-cardiac anomalies-facial dysmorphism syndromeView →
Orofaciodigital syndrome type 11 recruitingView →
Orofaciodigital syndrome type 11View →
Orofaciodigital syndrome type 14View →
Orofaciodigital syndrome type 18View →
Orofaciodigital syndrome type 2View →
Orofaciodigital syndrome type 3View →
Orofaciodigital syndrome type 4View →
Orofaciodigital syndrome type 5View →
Orofaciodigital syndrome type 6View →
Orofaciodigital syndrome type 7View →
Orofaciodigital syndrome type 8View →
Orofaciodigital syndrome type 9View →
Oromandibular dystonia1 recruitingView →
Oromandibular-limb anomalies syndromeGroupView →
Oroya feverView →
Osgood-Schlatter disease5 recruitingView →
OSLAM syndromeView →
Ossification anomalies-psychomotor developmental delay syndromeView →
OsteoblastomaOncologyView →
Osteochondritis dissecans5 recruitingView →
OsteochondrosisGroupView →
Osteochondrosis of genetic originGroupView →
Osteochondrosis of the metatarsal boneView →
Osteochondrosis of the tarsal boneView →
OsteocraniostenosisView →
Osteofibrous dysplasiaView →
Osteogenesis Imperfecta12 recruitingConnective TissueView →
Osteogenesis imperfecta type 14 recruitingConnective TissueView →
Osteogenesis imperfecta type 22 recruitingConnective TissueView →
Osteogenesis imperfecta type 3Connective TissueView →
Osteogenesis imperfecta type 41 recruitingConnective TissueView →
Osteogenesis imperfecta type 51 recruitingConnective TissueView →
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndromeNeurologicalView →
Osteoglosphonic dysplasiaView →
OsteomesopyknosisView →
OsteonecrosisGroupView →
Osteonecrosis of genetic originGroupView →
Osteonecrosis of the jaw5 recruitingView →
Osteopathia striata-cranial sclerosis syndromeView →
Osteopathia striata-pigmentary dermopathy-white forelock syndromeView →
Osteopenia-intellectual disability-sparse hair syndromeView →
Osteopetrosis with renal tubular acidosisRenalView →
Osteopetrosis-hypogammaglobulinemia syndromeView →
Osteoporosis-oculocutaneous hypopigmentation syndromeView →
Osteoporosis-pseudoglioma syndromeOncologyView →
Osteoradionecrosis of the mandible1 recruitingView →
Osteosarcoma135 recruitingOncologyView →
Osteosclerosis-developmental delay-craniosynostosis syndromeView →
Osteosclerosis-ichthyosis-premature ovarian failure syndromeDermatologicalView →
Osteosclerotic bone dysplasiaView →
Osteosclerotic metaphyseal dysplasiaView →
Other acquired skin diseaseGroupView →
Other dermis disorderGroupView →
Other epidermal disorderGroupView →
Other genetic dermis disorderGroupView →
Other genetic epidermal diseaseGroupView →
Other immunodeficiency syndromes due to defects in innate immunityImmuneGroupView →
Other metabolic diseaseGroupView →
Other metabolic disease with epilepsyNeurologicalGroupView →
Other metabolic disease with skin involvementGroupView →
Other rare diabetes mellitusGroupView →
Other syndrome with a central nervous system malformation as a major featureGroupView →
Other syndrome with lissencephaly as a major featureNeurologicalGroupView →
Otodental syndromeView →
Otofaciocervical syndromeView →
Otomandibular dysplasiaGroupView →
Otomandibular dysplasia associated with monogenic syndromesGroupView →
Otomandibular syndrome3 recruitingView →
Otoonychoperoneal syndromeView →
Otopalatodigital syndrome type 11 recruitingView →
Otopalatodigital syndrome type 2View →
Ovarian dysgerminomaView →
Ovarian fibroma1 recruitingView →
Ovarian fibrothecomaView →
Ovarian hyperstimulation syndrome3 recruitingView →
OvarioleukodystrophyNeurologicalView →
Overgrowth or tall stature syndrome with skeletal involvementGroupView →
Overgrowth syndromeGroupView →
Overgrowth syndrome with 2q37 translocationView →
Overgrowth-macrocephaly-facial dysmorphism syndromeView →
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndromeView →
Overgrowth/obesity syndromeGroupView →
Overhydrated hereditary stomatocytosisView →
Overlap myositisView →
Oxoglutaric aciduriaMetabolicView →