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 Research, 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
The Genetic and Rare Diseases Information Center has posted questions from the
public for the terms in bold. Click on the term to view the list of
questions in the "Questions & Answers" section.
Browse by Condition
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O Donnell Pappas syndrome
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Occipital horn syndrome
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Occult spinal dysraphism
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Ochoa syndrome
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Ochronosis
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Ocular albinism type 1
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Ocular cicatricial pemphigoid
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Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
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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 neuromyotonia
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Ocular toxoplasmosis
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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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Oculoauriculofrontonasal syndrome
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Oculo-cerebral dysplasia
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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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Oculocutaneous albinism
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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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Oculodentodigital dysplasia
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Oculodentodigital dysplasia dominant
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Oculodentoosseous dysplasia recessive
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Oculoectodermal syndrome
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Oculofaciocardiodental syndrome
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Oculomaxillofacial dysostosis
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Oculomotor apraxia Cogan type
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Oculootofacial dysplasia
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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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Odontogenic myxoma
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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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Ogilvie syndrome
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Oguchi disease
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Ohtahara syndrome
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Okamoto syndrome
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Oligoastrocytoma
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Oligodactyly tetramelic postaxial
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Oligodendroglioma
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Oligomeganephronic renal hypoplasia
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Oliver syndrome
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Olivopontocerebellar atrophy
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Olivopontocerebellar atrophy deafness
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Ollier disease
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Olmsted syndrome
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Omenn syndrome
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Omodysplasia 1
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Omodysplasia 2
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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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Onchocerciasis
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Oncogenic osteomalacia
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Onychotrichodysplasia and neutropenia
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Ophthalmoplegic Muscular dystrophy
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Opisthorchiasis
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Opitz G/BBB syndrome
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Opsismodysplasia
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Opthalmic icthyosis
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Opthalmomandibulomelic dysplasia
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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 hypoplasia, familial bilateral
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Optic neuritis
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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 leukoplakia
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Oral lichen planus
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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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Orbital lymphangioma
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Orbital lymphoma
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Orbital melanoma
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Orbital varix
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Organic acidemia
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Organic mood syndrome
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Ornithine transcarbamylase deficiency
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Ornithine translocase deficiency syndrome
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Ornithinemia
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Orofaciodigital syndrome 1
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Orofaciodigital syndrome 10
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Orofaciodigital syndrome 11
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Orofaciodigital syndrome 12
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Orofaciodigital syndrome 13
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Orofaciodigital syndrome 2
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Orofaciodigital syndrome 3
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Orofaciodigital syndrome 4
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Orofaciodigital syndrome 5
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Orofaciodigital syndrome 6
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Orofaciodigital syndrome 8
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Orofaciodigital syndrome 9
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Orofaciodigital syndromes
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Oro-mandibular-limb hypogenesis syndrome
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Oropharyngeal cancer, adult
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Oropharyngeal cancer, childhood
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Orotic aciduria type 1
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Orstavik Lindemann Solberg syndrome
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Oslam syndrome
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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 dissecans
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Osteochondroma
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Osteodysplasia familial Anderson type
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Osteodysplasty precocious of Danks Mayne and Kozlowski
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Osteoectasia familial
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Osteofibrous dysplasia
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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 8
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Osteogenesis imperfecta type 9
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Osteoglophonic dysplasia
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Osteolysis syndrome recessive
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Osteomalacia
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Osteomyelitis
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Osteopathia striata cranial sclerosis
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Osteopathia striata with pigmentary dermopathy including white forelock
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Osteopenia and sparse hair
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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 autosomal dominant type 2
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Osteopetrosis autosomal recessive 1
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Osteopetrosis autosomal recessive 2
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Osteopetrosis autosomal recessive 3
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Osteopetrosis autosomal recessive 4
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Osteopetrosis autosomal recessive 5
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Osteopetrosis autosomal recessive 6
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Osteopetrosis autosomal recessive 7
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Osteopoikilosis
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Osteopoikilosis and dacryocystitis
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Osteoporosis oculocutaneous hypopigmentation syndrome
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Osteoporosis-pseudoglioma syndrome
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Osteosarcoma
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Osteosclerosis abnormalities of nervous system and meninges
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Osteosclerosis with ichthyosis and premature ovarian failure
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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, 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 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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Ovarian small cell carcinoma
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Overgrowth radial ray defect arthrogryposis