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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Fabry disease
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FACES syndrome
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Facial asymetry temporal seizures
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Facial clefting corpus callosum agenesis
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Facial dysmorphism macrocephaly myopia Dandy Walker type
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Facial dysmorphism shawl scrotum joint laxity syndrome
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Facial ectodermal dysplasia
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Facial paresis, hereditary, congenital
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Facies unusual arthrogryposis advanced skeletal malformations
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Facio digito genital syndrome recessive form
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Facio skeletal genital syndrome Rippberger type
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Facio thoraco genital syndrome
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Faciocardiomelic dysplasia lethal
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Faciocardiorenal syndrome
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Faciomandibular myoclonus, nocturnal
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Faciooculoacousticorenal syndrome
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Facioscapulohumeral muscular dystrophy 1a
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Factor 2 deficiency
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Factor V deficiency
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Factor V Leiden thrombophilia
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Factor VII deficiency
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Factor X deficiency
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Factor X deficiency, congenital
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Factor XI deficiency, congenital
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Factor XII deficiency
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Fairbank disease
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Fallopian tube cancer
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Fallot complex with severe mental and growth retardation
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Fallot tetralogy
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Familial adenomatous polyposis
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Familial amyloid polyneuropathy
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Familial aortic dissection
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Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension
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Familial band heterotopia
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Familial capillaro-venous leptomeningeal angiomatosis
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Familial cerebral cavernous malformation
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Familial cold autoinflammatory syndrome
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Familial colorectal Cancer
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Familial congenital fourth cranial nerve palsy
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Familial cylindromatosis
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Familial deafness
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Familial dermographism
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Familial dilated cardiomyopathy
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Familial emphysema
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Familial encephalopathy with neuroserpin inclusion bodies
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Familial erythrocytosis, 1
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Familial hyperchylomicronemia
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Familial hyperlipoproteinemia
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Familial hyperlipoproteinemia type 1
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Familial hyperlipoproteinemia type 3
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Familial hyperlipoproteinemia type 4
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Familial hypersecretion of adrenal androgens
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Familial hypersensitivity pneumonitis
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Familial hypertension
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Familial hypopituitarism
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Familial hypothyroidism
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Familial interstitial fibrosis
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Familial intestinal polyatresia syndrome
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Familial Mediterranean fever
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Familial multiple trichodiscomas
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Familial myelofibrosis
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Familial nasal acilia
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Familial neurocardiogenic syncope
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Familial non-immune hyperthyroidism
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Familial opposable triphalangeal thumbs duplication
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Familial partial paralysis
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Familial periodic paralysis
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Familial platelet disorder with associated myeloid malignancy
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Familial polyposis
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Familial porencephaly
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Familial pulmonary arterial hypertension leucopenia and atrial septal defect
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Familial renal cell carcinoma
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Familial streblodactyly
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Familial symmetric lipomatosis
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Familial Treacher Collins syndrome
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Familial veinous malformations
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Familial ventricular tachycardia
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Familial visceral myopathy
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Familial Wilms tumor 2
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Familial young-adult-onset arteriosclerotic
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Fanconi anemia type 1
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Fanconi anemia type 2
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Fanconi anemia type 3
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Fanconi Bickel syndrome
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Fanconi ichthyosis dysmorphism
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Fanconi like syndrome
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Fanconi renotubular syndrome
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Fanconi's anemia
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Fara Chlupackova syndrome
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Farber's disease
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Farmer's lung
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Fascioliasis
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Fatal familial insomnia
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Faulk Epstein Jones syndrome
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Faye-Petersen Ward Carey syndrome
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Fazio Londe syndrome
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Fealty syndrome
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Febrile Ulceronecrotic Mucha-Habermann disease
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Fechtner syndrome
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Feigenbaum Bergeron Richardson syndrome
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Feigenbaum Bergeron syndrome
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Feingold Trainer syndrome
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Felty's Syndrome
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Female pseudohermaphrodism
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Female pseudohermaphrodism Genuardi type
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Femoral facial syndrome
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Femur bifid with monodactylous ectrodactyly
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Femur fibula ulna syndrome
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Fenton Wilkinson Toselano syndrome
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Ferlini Ragno Calzolari syndrome
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Fernhoff Blackston Oakley syndrome
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Fertile eunuch syndrome
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Fetal acitretin syndrome
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Fetal akinesia syndrome X-linked
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Fetal akinesia syndrome, X-linked
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Fetal alcohol syndrome
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Fetal aminopterin syndrome
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Fetal and neonatal alloimmune thrombocytopenia
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Fetal anticonvulsant syndrome
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Fetal antihypertensive drugs syndrome
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Fetal brain disruption sequence
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Fetal diethylstilbestrol syndrome
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Fetal edema
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Fetal enterovirus syndrome
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Fetal hydantoin syndrome
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Fetal indomethacin syndrome
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Fetal iodine syndrome
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Fetal left ventricular aneurysm
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Fetal macrosomia
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Fetal methimazole syndrome
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Fetal methyl mercury syndrome
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Fetal minoxidil syndrome
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Fetal parainfluenza virus type 3 syndrome
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Fetal parvovirus syndrome
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Fetal phenothiazine syndrome
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Fetal prostaglandin syndrome
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Fetal thalidomide syndrome
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Fetal warfarin syndrome
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FG syndrome
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FG syndrome 2
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FG syndrome 3
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FG syndrome 4
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Fibrinogen deficiency, congenital
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Fibrocartilaginous embolism
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Fibrochondrogenesis
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Fibrodysplasia ossificans progressiva
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Fibrolipomatosis
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Fibromatosis
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Fibromatosis gingival hypertrichosis
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Fibromatosis multiple non ossifying
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Fibromatosis, gingival, 3
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Fibromuscular dysplasia
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Fibrosarcoma
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Fibrosing alveolitis
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Fibrous dysplasia
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Fibula aplasia complex brachydactyly
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Fibular aplasia
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Fibular aplasia ectrodactyly
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Fibular hypoplasia and complex brachydactyly
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Fibular hypoplasia scapulo pelvic dysplasia absent
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Filaminopathy, autosomal dominant
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Filariasis
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Fine-Lubinsky syndrome
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Fingerprints absence syndactyly milia
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Finnish lethal neonatal metabolic syndrome
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Finnish type amyloidosis
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Finucane Kurtz Scott syndrome
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Fish-eye disease
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Fissured tongue
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Fistulous vegetative verrucous hydradenoma
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Fitz-Hugh-Curtis syndrome
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Fitzsimmons Walson Mellor syndrome
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Fitzsimmons-Guilbert syndrome
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Fitzsimmons-McLachlan-Gilbert syndrome
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Flat umbilicus familial
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Flaujeac factor deficiency
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Flavimonas oryzihabitans
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Floating-harbor syndrome
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Florid cemento-osseous dysplasia
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Florid cystic endosalpingiosis of the uterus
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Florid papillomatosis of the nipple
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FLOTCH syndrome
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Flynn Aird syndrome
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Focal alopecia congenital megalencephaly
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Focal cortical dysplasia of Taylor
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Focal dermal hypoplasia
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Focal dystonia
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Focal facial dermal dysplasia
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Focal or multifocal malformations in neuronal migration
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Focal segmental glomerulosclerosis
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Foix Chavany Marie syndrome
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Follicle-stimulating hormone deficiency, isolated
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Follicular dendritic cell tumor
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Follicular hamartoma alopecia cystic fibrosis
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Follicular ichthyosis
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Follicular lymphoma
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Follicular lymphoreticuloma
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Fontaine Farriaux Blanckaert syndrome
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Forbes Albright syndrome
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Formaldehyde poisoning
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Forney Robinson Pascoe syndrome
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Fountain syndrome
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Fowler Christmas Chapple syndrome
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Fox-Fordyce disease
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Fragile X syndrome
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Fragile X syndrome type 1
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Fragile X syndrome type 2
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Fragile X syndrome type 3
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Fragoso Cid Garcia Hernandez syndrome
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Franceschini Vardeu Guala syndrome
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Franek Bocker kahlen syndrome
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Frank Ter Haar syndrome
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Fraser Jequier Chen syndrome
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Fraser like syndrome
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Fraser syndrome
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Frasier syndrome
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FRAXD
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FRAXE syndrome
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Freeman-Sheldon syndrome
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Freiberg's disease
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Freire-Maia odontotrichomelic syndrome
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Frenkel Russe syndrome
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Frey's syndrome
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Frias syndrome
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Fried Goldberg Mundel syndrome
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Friedel Heid Grosshans syndrome
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Friedman Goodman syndrome
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Friedreich ataxia
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Friedreich ataxia congenital glaucoma
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Frints De Smet Fabry Fryns syndrome
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Froelich's syndrome
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Frolich's syndrome
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Fronto nasal malformation cloacal exstrophy
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Fronto-facio-nasal dysplasia
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Frontofacionasal dysplasia type Al gazali
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Frontometaphyseal dysplasia
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Frontonasal dysplasia
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Frontonasal dysplasia acromelic
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Frontonasal dysplasia klippel feil syndrome
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Frontonasal dysplasia phocomelic upper limbs
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Frontotemporal dementia
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Frontotemporal dementia, ubiquitin-positive
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Froster huch syndrome
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Froster Iskenius Waterson syndrome
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Fructose-1,6-bisphosphatase deficiency
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Fructosuria
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Frydman Cohen Ashenazi syndrome
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Frydman Cohen Karmon syndrome
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Fryer syndrome
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Fryns Fabry Remans syndrome
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Fryns Hofkens Fabry syndrome
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Fryns smeets thiry syndrome
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Fryns syndrome
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Fuchs atrophia gyrata chorioideae et retinae
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Fucosidosis
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Fucosidosis type 1
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Fuhrmann syndrome
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Fukuda Miyanomae Nakata syndrome
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Fukuyama type muscular dystrophy
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Fumaric aciduria
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Functioning pancreatic endocrine tumor
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Fuqua Berkovitz syndrome
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Furlong syndrome
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Furukawa Takagi Nakao syndrome
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Furunculous myiasis
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Fused mandibular incisors
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