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- O'Doherty syndrome
- O'Donnell-Pappas syndrome
- O'Sullivan-McLeod syndrome
- OA1
- OAFNS
- OAS
- OAS1 deficiency
- OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
- OAV spectrum
- Oberklaid-Danks 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 pro-opiomelanocortin deficiency
- Obesity due to prohormone convertase I deficiency
- Obesity due to SIM1 deficiency
- Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- OBHD
- Oblique facial cleft
- Obliterative bronchiolitis
- Obliterative portal venopathy
- Obrinsky syndrome
- Obstructed hemivagina and ipsilateral renal anomaly
- OCA
- OCA1
- OCA1-MP
- OCA1-TS
- OCA1A
- OCA1B
- OCA2
- OCA3
- OCA4
- OCA5
- OCA6
- OCA7
- OCA8
- 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
- Occult spina bifida
- Ochoa facial syndrome
- Ochoa syndrome
- OCMD
- OCRL
- OCT deficiency
- Ocular albinism
- Ocular albinism type 1
- Ocular albinism with late-onset sensorineural deafness
- Ocular albinism with late-onset sensorineural hearing loss
- Ocular albinism, Nettleship-Falls type
- Ocular anomalies-axonal neuropathy-developmental delay syndrome
- Ocular cicatricial pemphigoid
- Ocular cystinosis
- Ocular motor apraxia, Cogan type
- Ocular surface squamous neoplasia
- Ocular-scoliotic EDS
- Oculo-auriculo-vertebral spectrum
- Oculo-dento-digital dysplasia
- Oculo-digito-esophageal-duodenal syndrome
- Oculo-digito-esophageal-duodenal syndrome type 1
- Oculo-oto-radial syndrome
- Oculo-palato-cerebral dwarfism
- Oculo-palato-cerebral syndrome
- Oculo-skeleto-dental syndrome
- Oculoauricular syndrome, Schorderet type
- Oculoauriculofrontonasal syndrome
- Oculoauriculovertebral spectrum
- Oculoauriculovertebral spectrum with radial defects
- Oculocerebral hypopigmentation syndrome, Cross type
- Oculocerebral hypopigmentation syndrome, Preus type
- Oculocerebrocutaneous syndrome
- Oculocerebrofacial syndrome, Kaufman type
- Oculocerebrorenal syndrome of Lowe
- Oculocutaneous albinism
- 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 albinism type 8
- Oculocutaneous albinism, Amish type
- Oculocutaneous or ocular albinism
- Oculocutaneous tyrosinemia
- Oculodental syndrome, Rutherfurd type
- Oculodentodigital dysplasia
- Oculodentodigital syndrome
- Oculodentodigitalis dysplasia
- Oculodentoosseous dysplasia
- Oculoectodermal syndrome
- Oculofaciocardiodental syndrome
- Oculogastrointestinal muscular dystrophy
- Oculogastrointestinal-neurodevelopmental syndrome
- Oculomandibulofacial syndrome
- Oculomaxillofacial dysostosis
- Oculomelic amyoplasia
- Oculomotor apraxia
- Oculomotor apraxia, Cogan type
- Oculoosteocutaneous syndrome
- Oculootodental syndrome
- Oculopharyngeal distal myopathy
- Oculopharyngeal muscular dystrophy
- Oculopharyngodistal myopathy
- Oculorenocerebellar syndrome
- Oculoskeletodental syndrome
- Oculotrichoanal syndrome
- Oculotrichodysplasia
- ODCD
- ODDD syndrome
- ODED syndrome
- ODED syndrome type 1
- ODOD syndrome
- Odonto-onycho dysplasia-alopecia syndrome
- Odonto-onycho-dermal dysplasia
- Odonto-tricho-ungual-digito-palmar syndrome
- Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
- Odontochondrodysplasia
- Odontogenic keratocystoma
- Odontohypophosphatasia
- Odontoleukodystrophy
- Odontomatosis-aortae esophagus stenosis syndrome
- Odontomicronychial dysplasia
- Odontotrichomelic syndrome
- ODP
- OEIS complex
- Oesophageal atresia
- OFC syndrome
- OFCD syndrome
- OFD
- OFD
- OFD1
- OFD11
- OFD14
- OFD18
- OFD2
- OFD4
- OFD5
- OFD6
- OFD8
- OFD9
- OFDI
- OFDSI
- Off-periods in Parkinson disease not responding to oral treatment
- Ofuji disease
- OGCT of pancreas
- Ogden syndrome
- OGIN Syndrome
- Oguchi disease
- Oguchi syndrome
- Ohaha syndrome
- Ohdo syndrome
- Ohdo-Madokoro-Sonoda 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
- Okur-Chung neurodevelopmental syndrome
- OL-EDA-ID
- Olfacto-genital pathological sequence
- Olfactory neuroblastoma
- Oligoarticular JIA
- Oligoarticular juvenile idiopathic arthritis
- Oligoastrocytic tumor
- Oligoastrocytoma
- Oligocone syndrome
- Oligocone trichromacy
- Oligodendroglial tumor
- Oligodendroglioma
- Oligodontia
- Oligomeganephronia
- Oligomeganephronic renal hypoplasia
- Oligophrenin-1 syndrome
- Oligosaccharidosis
- Oliver syndrome
- Oliver-McFarlane syndrome
- Olivopontocerebellar atrophy-deafness syndrome
- Olivopontocerebellar atrophy-hearing loss syndrome
- Olivopontocerebellar hypoplasia
- Ollier disease
- Olmsted syndrome
- OMA syndrome
- OMD
- Omenn syndrome
- OMM syndrome
- Omodysplasia
- Omphalocele
- Omphalocele syndrome, Shprintzen-Goldberg type
- Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
- Omphalomesenteric cyst
- OMPP
- OMS
- Omsk hemorrhagic fever
- Onat syndrome
- Onchocerciasis
- Oncocytic cardiomyopathy
- Oncogenic hypophosphatemic osteomalacia
- Oncogenic osteomalacia
- Ondine curse
- Ondine syndrome
- Ondine-Hirschsprung disease
- Ondine-Hirschsprung syndrome
- Onycho-digito-mammary syndrome
- Onychocytic matricoma
- Onychomatricoma
- Onychoosteodysplasia
- OOCHS
- OOD
- OODD
- OPA2
- OPA3, autosomal dominant
- Opalescent teeth without OI
- Opalescent teeth without osteogenesis imperfecta
- OPD I syndrome
- OPD II syndrome
- OPD spectrum disorder
- OPD syndrome 1
- OPD syndrome 2
- OPDM
- Open iniencephaly
- Open spina bifida
- Open spinal dysraphism
- Open spinal dysraphism with a myelomeningocele
- Open spinal dysraphism with a posterior meningocele
- Open split-cord malformation
- OPHN1 syndrome
- Ophthalmoacromelic syndrome
- Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome
- Ophthalmomandibulomelic dysplasia
- Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- Opitz BBB/G syndrome
- Opitz BBBG syndrome
- Opitz C trigonocephaly
- Opitz G/BBB syndrome
- Opitz GBBB syndrome
- Opitz trigonocephaly C syndrome
- Opitz trigonocephaly syndrome
- Opitz trigonocephaly-like syndrome
- Opitz-Caltabiano syndrome
- Opitz-Frias syndrome
- Opitz-Kaveggia syndrome
- OPMD
- Oppenheim dystonia
- Oppenheim-Urbach disease
- OPPG
- OPSD
- Opsismodysplasia
- Opsoclonus-myoclonus syndrome
- Opsoclonus-myoclonus-ataxia syndrome
- Optic ataxia-gaze apraxia-simultanagnosia syndrome
- Optic atrophy type 1
- Optic atrophy type 2
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
- Optic atrophy-deafness-polyneuropathy-myopathy syndrome
- Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
- Optic atrophy-intellectual disability syndrome
- Optic disc pit
- Optic nerve edema-splenomegaly syndrome
- Optic pathway glioma
- Oral dysesthesia
- Oral submucous fibrosis
- Oral-facial-digital syndrome
- Oral-facial-digital syndrome type 1
- Oral-facial-digital syndrome type 11
- Oral-facial-digital syndrome type 14
- Oral-facial-digital syndrome type 18
- Oral-facial-digital syndrome type 2
- 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-facial-digital syndrome, Edwards type
- Oral-facial-digital syndrome, Gabrielli type
- 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
- Ornithosis
- ORNT1 deficiency
- Oroacral syndrome
- Orocraniodigital syndrome
- Orodynia
- Orofacial clefting syndrome
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
- Orofaciodigital syndrome
- Orofaciodigital syndrome type 1
- Orofaciodigital syndrome type 11
- Orofaciodigital syndrome type 14
- Orofaciodigital syndrome type 18
- Orofaciodigital syndrome type 2
- Orofaciodigital syndrome type 4
- Orofaciodigital syndrome type 5
- Orofaciodigital syndrome type 6
- Orofaciodigital syndrome type 8
- Orofaciodigital syndrome type 9
- Orofaciodigital syndrome with retinal abnormalities
- Orofaciodigital syndrome, Edwards type
- Orofaciodigital syndrome, Gabrielli type
- Orofaciodigital syndrome, Thurston type
- 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 Ewing sarcoma
- Osseous venous malformation
- Osseous-oculo-dental dysplasia
- Ossification anomalies-psychomotor developmental delay syndrome
- OSSN
- Osteitis condensans of the clavicle
- Osteoblastoma
- Osteochondritis dissecans
- Osteochondritis dissecans and short stature
- 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 tibial tubercle
- Osteoclastic giant cell tumor of pancreas
- Osteoclastoma
- Osteocraniosplenic syndrome
- Osteocraniostenosis
- Osteofibrous dysplasia
- Osteogenesis imperfecta
- Osteogenesis imperfecta type 1
- Osteogenesis imperfecta type 2
- Osteogenesis imperfecta type 3
- Osteogenesis imperfecta type 4
- Osteogenesis imperfecta type 5
- Osteogenesis imperfecta-congenital joint contractures syndrome
- Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
- Osteogenic sarcoma
- Osteoglophonic dwarfism
- Osteoglosphonic dysplasia
- Osteomesopycnosis
- 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
- Osteopetrosis and related disorders
- Osteopetrosis autosomal dominant type 2
- Osteopetrosis with renal tubular acidosis
- Osteopetrosis-hypogammaglobulinemia syndrome
- Osteopoikilosis-short stature-intellectual disability syndrome
- Osteoporosis of pregnancy
- Osteoporosis-oculocutaneous hypopigmentation syndrome
- Osteoporosis-pseudoglioma syndrome
- Osteoradionecrosis of the mandible
- Osteosarcoma
- Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
- Osteosclerosis-developmental delay-craniosynostosis syndrome
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- Osteosclerotic bone dysplasia
- Osteosclerotic metaphyseal dysplasia
- Osteosclerotic myeloma
- Ostravik-Lindemann-Solberg syndrome
- OTC deficiency
- OTCS
- Other acquired skin disease
- Other dermis disorder
- Other epidermal disorder
- Other genetic dermis disorder
- Other genetic epidermal disease
- Other immunodeficiency syndrome with predominantly antibody defects
- Other immunodeficiency syndromes due to defects in innate immunity
- 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 a major feature
- Other syndrome with lissencephaly as a major feature
- Otodental dysplasia
- Otodental syndrome
- Otofaciocervical syndrome
- Otomandibular dysplasia
- Otomandibular dysplasia associated with monogenic syndromes
- Otoonychoperoneal syndrome
- Otopalatodigital syndrome spectrum disorder
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- OTUDP syndrome
- OTULIN deficiency
- OTULIN-related autoinflammatory syndrome
- Otulipenia
- Oudtshoorn disease
- Ouvrier-Billson syndrome
- Ovarian adenocarcinoma
- Ovarian carcinosarcoma
- Ovarian clear cell adenocarcinoma
- Ovarian dysgerminoma
- 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 mucinous adenocarcinoma
- Ovarian non-epithelial cancer
- Ovarian Sertoli-Leydig cell cancer
- Ovarioleukodystrophy
- Overgrowth or tall stature syndrome with skeletal involvement
- Overgrowth syndrome
- Overgrowth syndrome with 2q37 translocation
- Overgrowth-macrocephaly-facial dysmorphism syndrome
- Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
- Overgrowth/obesity syndrome
- Overhydrated hereditary stomatocytosis
- Overlap myositis
- Overlap syndromes of autoimmune liver diseases
- Overlapping connective tissue disease
- Owren disease
- OXCT1 deficiency
- Oxoglutaric aciduria
- Oxoprolinuria due to oxoprolinase deficiency
- OXPHOS disease
- 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