Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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O Donnell Pappas syndrome
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Obstructive asymmetric septal hypertrophy
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Occipital horn syndrome
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Occult spinal dysraphism
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Ochronosis
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Ochronosis, hereditary
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Ocular Albinism type 1
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Ocular cicatricial pemphigoid
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Ocular coloboma-imperforate anus
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Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
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Ocular convergence spasm
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Ocular melanoma
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Ocular motility disorders
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Ocular Muscular Dystrophy
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Ocular toxoplasmosis
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Oculo cerebral dysplasia
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Oculo cerebro acral syndrome
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Oculo cerebro osseous syndrome
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Oculo digital syndrome
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Oculo skeletal renal syndrome
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Oculo tricho anal syndrome
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Oculo tricho dysplasia
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Oculoauriculofrontonasal syndrome
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Oculocerebral hypopigmentation syndrome Cross type
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Oculocerebral hypopigmentation syndrome type Preus
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Oculocerebral syndrome with hypopigmentation
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Oculocerebrocutaneous syndrome
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Oculocerebrorenal syndrome
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Oculocutaneous albinism type 1
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Oculocutaneous albinism type 1B
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Oculocutaneous albinism type 2
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Oculocutaneous albinism type 3
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Oculocutaneous tyrosinemia
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Oculodental syndrome Rutherfurd syndrome
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Oculodentodigital dysplasia dominant
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Oculodentodigital syndrome
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Oculo-dento-digital syndrome
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Oculodentoosseous dysplasia dominant
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Oculodentoosseous dysplasia recessive
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Oculodigitoesophagoduodenal syndrome
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Oculo-ectodermal syndrome
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Oculofaciocardiodental syndrome
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Oculo-gastrointestinal muscular dystrophy
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Oculomaxillofacial dysostosis
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Oculomelic amyoplasia
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Oculopalatoskeletal syndrome
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Oculopharyngeal muscular dystrophy
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Oculorenocerebellar syndrome
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Odonto onycho dysplasia with alopecia
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Odontoma
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Odontoma dysphagia syndrome
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Odontomicronychial dysplasia
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Odontoonychodermal dysplasia
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OFD syndrome type 8
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OFD syndrome type Figuera
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Ogilvie's syndrome
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Oguchi disease
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Ohtahara syndrome
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Okamuto Satomura syndrome
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Oligodactyly tetramelic postaxial
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Oligodendroglioma
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Oligomeganephronic renal hypoplasia
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Oligomeganephrony
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Oligophernia
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Oliver McFarlane syndrome
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Oliver syndrome
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Olivopontocerebellar atrophies
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Olivopontocerebellar atrophy deafness
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Olivopontocerebellar atrophy type 3
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Olivopontocerebellar hypoplasia, fetal-onset
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Ollier disease
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Olmsted syndrome
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Omenn syndrome
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Omodysplasia type 1
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Omphalocele cleft palate syndrome lethal
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Omphalocele exstrophy imperforate anus
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Omphalomesenteric cyst
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Omsk hemorrhagic fever
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Onat syndrome
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Onchocerciasis
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Oncocytoma, renal
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Oncogenic osteomalacia
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Onychotrichodysplasia and neutropenia
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Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome
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Ophthalmoplegic Muscular dystrophy
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Opisthorchiasis
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Opitz Reynolds Fitzgerald syndrome
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Opitz syndrome
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Oppositional defiant disorder
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Opsismodysplasia
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Opthalmic icthyosis
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Opthalmo acromelic syndrome
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Opthalmomandibulomelic dysplasia
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Opthalmoplegia ataxia hypoacusis
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Opthalmoplegia mental retardation lingua scrotalis
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Opthalmoplegia myalgia tubular aggregates
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Opthalmoplegia progressive external scoliosis
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Optic atrophy 1
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Optic atrophy 1 and deafness
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Optic atrophy 2
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Optic atrophy 5
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Optic atrophy 6
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Optic atrophy and cataract, autosomal dominant
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Optic atrophy opthalmoplegia ptosis deafness myopia
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Optic atrophy polyneuropathy deafness
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Optic nerve disorder
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Optic nerve hypoplasia, familial bilateral
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Optic neuropathy, anterior ischemic
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Optic pathway glioma
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Opticoacoustic nerve atrophy dementia
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Oral cancer
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Oral facial digital syndrome
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Oral facial digital syndrome, type 3
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Oral facial dyskinesia
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Oral leukoplakia
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Oral lichen planus
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Oral lichenoid lesions
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Oral pharyngeal disorders
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Oral squamous cell carcinoma
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Oral submucous fibrosis
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Oral-facial cleft
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Orbital lymphangioma
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Orbital lymphoma
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Organic acidemia
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Organic brain syndrome
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Organic mood syndrome
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Organic personality syndrome
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Ornithine aminotransferase deficiency
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Ornithine Transcarbamylase Deficiency
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Ornithinemia
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Oro acral syndrome
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Orofaciodigital syndrome 4
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Orofaciodigital syndrome Gabrielli type
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Orofaciodigital syndrome Thurston type
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Orofaciodigital syndrome type 2
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Orofaciodigital syndrome type1
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Orofaciodigital syndrome, Shashi type
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Oropharyngeal cancer, adult
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Oropharyngeal cancer, childhood
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Orotic aciduria hereditary
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Orotic aciduria purines-pyrimidines
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Oroticaciduria 1
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Orotidylic decarboxylase deficiency
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Orstavik Lindemann Solberg syndrome
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Orthostatic intolerance
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Oslam syndrome
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Osler Rendu Weber syndrome 3
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Osler-Rendu-Weber syndrome 2
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OSMED Syndrome
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Ossicular Malformations, familial
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Ossification of the posterior longitudinal ligament of the spine
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Osteoarthropathy of fingers familial
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Osteochondritis deformans juvenile
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Osteochondritis dissecans
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Osteochondrodysplasia thrombocytopenia hydrocephalus
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Osteochondroma
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Osteochondromatosis
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Osteodysplasia familial Anderson type
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Osteodysplastic dwarfism Corsello type
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Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
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Osteoectasia familial
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Osteogenesis imperfecta
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Osteogenesis imperfecta congenita, microcephaly, and cataracts
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Osteogenesis imperfecta, Levin type
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Osteogenesis imperfecta, type 1
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Osteogenesis imperfecta, type 1A
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Osteogenesis imperfecta, type 2A
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Osteogenesis imperfecta, type 2B
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Osteogenesis imperfecta, type 3
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Osteogenesis imperfecta, type 4
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Osteogenesis imperfecta, type 5
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Osteogenesis imperfecta, type 6
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Osteogenesis imperfecta, type 7
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Osteogenesis imperfecta, type VIII
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Osteogenic sarcoma
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Osteoglophonic dwarfism
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Osteolysis hereditary multicentric
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Osteolysis syndrome recessive
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Osteomalacia
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Osteomyelitis
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Osteonecrosis
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Osteopathia striata cranial sclerosis
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Osteopathia striata with pigmentary dermopathy including white forelock
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Osteopetrosis
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Osteopetrosis and infantile neuroaxonal dystrophy
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Osteopetrosis autosomal dominant type 1
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Osteopetrosis lethal
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Osteopetrosis with renal tubular acidosis
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Osteopetrosis, mild autosomal recessive form
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Osteopetrosis, renal tubular acidosis and basal ganglia calcification
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Osteopoikilosis
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Osteopoikilosis and dacryocystitis
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Osteoporosis macrocephaly mental retardation blindness
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Osteoporosis oculocutaneous hypopigmentation syndrome
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Osteoporosis-pseudoglioma syndrome
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Osteosarcoma limb anomalies erythroid macrocytosis
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Osteosclerose type Stanescu
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Osteosclerosis abnormalities of nervous system and meninges
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Osteosclerosis autosomal dominant Worth type
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Osteosclerosis with ichthyosis and premature ovarian failure
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Ota Kawamura Ito syndrome
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Otodental dysplasia
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Otofaciocervical syndrome
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Otoonychoperoneal syndrome
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Oto-Palatal-digital syndrome
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Oto-Palato-digital syndrome type 1
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Oto-palato-digital syndrome, type 2
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Otosclerosis
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Otosclerosis, familial
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Ouvrier Billson syndrome
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Ovarian cancer
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Ovarian cancer, childhood
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Ovarian carcinosarcoma
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Ovarian dwarfism
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Ovarian dwarfism as part of Turner Syndrome
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Ovarian epithelial cancer
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Ovarian germ cell tumor
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Ovarian insufficiency due to FSH resistance
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Ovarian insufficiency, familial
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Ovarian low malignant potential tumor
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Ovarian remnant syndrome
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Overfolded helix
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Overgrowth radial ray defect arthrogryposis
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Overgrowth syndrome type Fryer
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Overhydrated hereditary stomatocytosis
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Oxalosis
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