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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 →