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
Browse by Condition
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D ercole syndrome
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D-2- @hydroxyglutaric aciduria
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Daentl Towsend Siegel syndrome
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Dahlberg Borer Newcomer syndrome
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Daish Hardman Lamont syndrome
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Dancing eyes-dancing feet syndrome
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Dandy Walker facial hemangioma
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Dandy Walker malformation postaxial polydactyly
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Dandy Walker syndrome
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Dandy Walker syndrome recessive form
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Dandy Walker variant
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Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures
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Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
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Daneman Davy Mancer syndrome
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Danubian endemic familial nephropathy
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Darier's disease
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Davenport Donlan syndrome
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Davis Lafer syndrome
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De Barsy syndrome
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De Hauwere Leroy Adriaenssens syndrome
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De Quervains' disease
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De Sanctis-Cacchione syndrome
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Deafness conductive ptosis skeletal anomalies
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Deafness conductive stapedial ear malformation facial palsy
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Deafness craniofacial syndrome
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Deafness enamel hypoplasia nail defects
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Deafness epiphyseal dysplasia short stature
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Deafness goiter stippled epiphyses
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Deafness hyperuricemia neurologic ataxia
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Deafness hypogonadism syndrome
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Deafness hypospadias metacarpal and metatarsal syndrome
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Deafness mesenteric diverticula of small bowel neuropathy
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Deafness mixed with perilymphatic Gusher, X-linked
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Deafness nephritis ano rectal malformation
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Deafness neurosensory pituitary dwarfism
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Deafness nonsyndromic, Connexin 26 linked
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Deafness oligodontia syndrome
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Deafness onychodystrophy dominant form
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Deafness peripheral neuropathy arterial disease
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Deafness progressive cataract autosomal dominant
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Deafness skeletal dysplasia lip granuloma
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Deafness vitiligo achalasia
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Deafness white hair contractures papillomas
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Deafness X-linked, DFN3
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Deafness, autosomal dominant nonsyndromic sensorineural 17
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Deafness, autosomal dominant nonsyndromic sensorineural 22
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Deafness, autosomal dominant nonsyndromic sensorineural 23
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Deafness, autosomal dominant nonsyndromic sensorineural 24
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Deafness, autosomal dominant nonsyndromic sensorineural 3
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Deafness, autosomal dominant nonsyndromic sensorineural 53
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Deafness, autosomal recessive 51
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Deafness, autosomal recessive 55
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Deafness, congenital onychodystrophy, recessive form
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Deafness, isolated, due to mitochondrial transmission
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Deafness, neurosensory nonsyndromic recessive, DFN
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Deafness, neurosensory, autosomal recessive 47
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Deafness, X-linked, DFN
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Deal Barratt Dillon syndrome
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Defect in synthesis of adenosylcobalamin
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Defective apolipoprotein B-100
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Degenerative motor system disease
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Degenerative optic myopathy
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Degos disease
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Degos 'en cocarde' erythrokeratoderma
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Dehydratase deficiency
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Delayed membranous cranial ossification
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Delayed speech facial asymetry strabismus ear lobe creases
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Deletion 6q16 q21
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Delleman Oorthuys syndrome
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Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
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Delta-sarcoglycanopathy
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Dementia, familial British
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Dementia, familial Danish
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Demodicidosis
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Demyelinating diseases
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Dengue fever
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Dennis Fairhurst Moore syndrome
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Dens in dente and palatal invaginations
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Dent disease 1
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Dentatorubral pallidoluysian atrophy
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Dentin dysplasia sclerotic bones
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Dentin dysplasia, coronal
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Dentin dysplasia, type 1
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Dentinogenesis imperfecta
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Dentinogenesis imperfecta, shields type 3
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Depersonalization disorder
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Der Kaloustian Mcintosh Silver syndrome
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Dermal eccrine cylindroma
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Dermatitis herpetiformis, familial
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Dermatocardioskeletal syndrome Boronne type
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Dermatofibroma
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Dermatofibrosarcoma protuberans
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Dermatoleukodystrophy
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Dermatomyositis
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Dermatoosteolysis Kirghizian type
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Dermatopathia pigmentosa reticularis
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Dermochondrocorneal dystrophy of François
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Dermoids of cornea
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Dermoodontodysplasia
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Desbuquois syndrome
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Desmin related myopathy
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Desmoid disease, hereditary
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Desmoid tumor
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Desmoplastic cerebral astrocytoma of infancy
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Desmoplastic infantile ganglioma
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Desmoplastic small round cell tumor
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Desmosterolosis
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Developmental delay hypotonia extremities hypertrophy
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Developmental dysphasia familial
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Devic disease
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Devriendt Legius Fryns syndrome
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Devriendt syndrome
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Devriendt Vandenberghe Fryns syndrome
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Dexamethasone sensitive hypertension
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Dextrocardia
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Dextrocardia with situs inversus
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Dextrocardia-bronchiectasis-sinusitis
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D-glycericacidemia
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Di Guglielmo's syndrome
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Diabetes hypogonadism deafness mental retardation
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Diabetes insipidus primary central
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Diabetes insipidus, diabetes mellitus, optic atrophy
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Diabetes insipidus, nephrogenic type 1
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Diabetes insipidus, nephrogenic type 2
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Diabetes insipidus, nephrogenic type 3
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Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification
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Diabetes insipidus, nephrogenic, dominant type
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Diabetes insipidus, nephrogenic, recessive type
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Diabetes mellitus, transient neonatal
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Diabetes persistent mullerian ducts
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Diabetic mastopathy
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Diamond-Blackfan anemia
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Dianzani autoimmune lymphoproliferative syndrome
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Diaphragmatic agenesia
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Diaphragmatic agenesis radial aplasia omphalocele
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Diaphragmatic defect limb deficiency skull defect
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Diaphragmatic hernia exomphalos corpus callosum agenesis
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Diaphragmatic hernia upper limb defects
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Diaphyseal medullary stenosis with malignant fibrous histiocytoma
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Diarrhea chronic with villous atrophy
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Diarrhea polyendocrinopathy infections X-linked
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Diastematomyelia
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Diastrophic dysplasia
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Dibasic aminoaciduria 1
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Dibasic aminoaciduria 2
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Dicarboxylicaminoaciduria
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Die Smulders Droog Van Dijk syndrome
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Die Smulders Vles Fryns syndrome
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Diencephalic syndrome
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Dieterich's disease
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Diethylstilbestrol antenatal infection
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Diffuse neonatal hemangiomatosis
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Diffuse palmoplantar keratoderma, Bothnian type
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Diffuse panbronchiolitis
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Diffuse scleroderma
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Diffuse systemic sclerosis
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DiGeorge syndrome
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Digestive duplication
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Digitorenocerebral syndrome
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Dihydropyrimidine dehydrogenase deficiency
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Dilated cardiomyopathy
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Dimauro disease
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Dincsoy Salih Patel syndrome
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Dinno Shearer Weisskopf syndrome
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Diomedi Bernardi Placidi syndrome
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Dionisi Vici Sabetta Gambarara syndrome
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Diphallia
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Diphallus rachischisis imperforate anus
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Diphosphoglycerate mutase deficiency of erythrocyte
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Diphtheria
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Diprosopia
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Dislocation of the hip dysmorphism
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Dissecting cellulitis of the scalp
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Disseminated infection with mycobacterium avium complex
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Dissociative hysteria
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Distal arthrogryposis Moore Weaver type
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Distal myopathy
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Distal myopathy Markesbery-Griggs type
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Distal myopathy with vocal cord weakness
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Distal myopathy, Nonaka type
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Distal primary acidosis, familial
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Distichiasis heart congenital anomalies
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Distomatosis
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Dk phocomelia syndrome
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D-minus hemolytic uremic syndrome (D-HUS)
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Dobrow syndrome
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Dominant cleft palate
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Dominant ichthyosis vulgaris
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Donnai Barrow syndrome
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Donovanosis
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Dopamine beta hydroxylase deficiency
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Dosage-sensitive sex reversal
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Double cortex syndrome
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Double discordia
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Double fingernail of fifth finger
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Double nails on the fifth toe
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Double outlet left ventricle
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Double outlet right ventricle
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Double tachycardia induced by catecholamines
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Double uterus-hemivagina-renal agenesis
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Dowling-Degos disease
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Doxorubicin induced cardiomyopathy
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Doyne honeycomb retinal dystrophy
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D-plus hemolytic uremic syndrome (D+HUS)
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Drachtman Weinblatt Sitarz syndrome
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Dracunculiasis
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Dravet syndrome
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Duane anomaly mental retardation
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Duane retraction syndrome 1
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Duane retraction syndrome 2
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Duane-radial ray syndrome
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Dubin-Johnson syndrome
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Dubowitz syndrome
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Duchenne muscular dystrophy
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Duhring Brocq disease
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Duhring's disease
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Duker Weiss Siber syndrome
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Duodenal atresia
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Duodenal atresia tetralogy of Fallot
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Duodenal ulcer due to antral G-cell hyperfunction
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Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
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Duplication of leg mirror foot
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Duplication of the thumb unilateral biphalangeal
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Duplication of urethra
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Dupont Sellier Chochillon syndrome
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Dupuytren subungual exostosis
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Dwarfism
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Dwarfism bluish sclerae
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Dwarfism deafness retinitis pigmentosa
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Dwarfism lethal type advanced bone age
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Dwarfism short limb absent fibulas very short digits
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Dwarfism stiff joint ocular abnormalities
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Dwarfism syndesmodysplasic
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Dwarfism tall vertebrae
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Dwarfism thin bones multiple fractures
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Dyggve-Melchior-Clausen syndrome
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Dykes Markes Harper syndrome
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Dysautonomia like disorder
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Dyschondrosteosis nephritis
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Dyschromatosis symmetrica hereditaria 1
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Dyschromatosis universalis hereditaria
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Dysequilibrium syndrome
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Dyserythropoietic anemia, congenital
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Dyserythropoietic anemia, congenital type 1
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Dyserythropoietic anemia, congenital type 2
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Dyserythropoietic anemia, congenital type 3
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Dysesthetic Vulvodynia
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Dysferlinopathy
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Dysfibrinogenemia, familial
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Dysgerminoma
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Dysgnathia complex
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Dysharmonic skeletal maturation muscular fiber disproportion
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Dyskeratosis congenita
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Dyskeratosis congenita of Zinsser Cole Engman
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Dyskeratosis follicularis
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Dyskinesia, drug induced
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Dysmorphism abnormal vocalization mental retardation
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Dysmorphism cleft palate loose skin
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Dysmyelination
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Dysosteosclerosis
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Dysostosis
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Dysostosis acral with facial and genital abnormalities
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Dysostosis peripheral
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Dysostosis Stanescu type
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Dysphasic dementia, hereditary
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Dysphonia, chronic spasmodic
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Dysplasia epiphysealis hemimelica
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Dysplastic cortical hyperostosis
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Dysplastic nevus syndrome
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Dysprothrombinemia
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Dysraphism cleft lip palate limb reduction defects
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Dyssegmental dysplasia
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Dyssegmental dysplasia glaucoma
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Dyssegmental dysplasia, Rolland-Desbuquois type
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Dystelephalangy
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Dystonia 12
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Dystonia 15, myoclonic
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Dystonia 6, torsion
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Dystonia musculorum deformans 4
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Dystonia musculorum deformans type 1
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Dystonia musculorum deformans type 2
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Dystonia, Dopa-responsive
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Dystrophic epidermolysis bullosa
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Dystrophinopathy
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