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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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 ectodermal dysplasia
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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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Facioscapulohumeral muscular dystrophy
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Factor 2 deficiency
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Factor V deficiency
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Factor VII deficiency
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Factor X deficiency
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Factor XI deficiency, congenital
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Factor XII deficiency
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Factor XIII 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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Familial adenomatous polyposis
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Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension
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Familial avascular necrosis of the femoral head
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Familial band heterotopia
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Familial bilateral striatal necrosis
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Familial capillaro-venous leptomeningeal angiomatosis
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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 dysautonomia
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Familial encephalopathy with neuroserpin inclusion bodies
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Familial eosinophilia
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Familial erythema nodosum
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Familial erythrocytosis, 1
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Familial exudative vitreoretinopathy
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Familial glucocorticoid deficiency
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Familial HDL deficiency
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Familial hemiplegic migraine
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Familial hemiplegic migraine type 1
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Familial hemiplegic migraine type 2
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Familial hemiplegic migraine type 3
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Familial hyperaldosteronism type 2
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Familial hyperinsulinism
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Familial hyperlipo-proteinemia type 1
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Familial hypersecretion of adrenal androgens
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Familial hypersensitivity pneumonitis
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Familial hyperthyroidism due to mutations in TSH receptor
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Familial hypertrophic cardiomyopathy
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Familial hypobetalipoproteinemia
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Familial hypocalciuric hypercalcemia
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Familial hypocalciuric hypercalcemia type 1
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Familial hypocalciuric hypercalcemia type 2
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Familial hypocalciuric hypercalcemia type 3
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Familial hypopituitarism
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Familial hypothyroidism
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Familial idiopathic basal ganglia calcification
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Familial interstitial fibrosis
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Familial isolated hyperparathyroidism
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Familial isolated pituitary adenoma
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Familial juvenile hyperuricaemic nephropathy
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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 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 porencephaly
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Familial prostate cancer
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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 thoracic aortic aneurysm and dissection
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Familial transthyretin amyloidosis
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Familial Treacher Collins syndrome
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Familial tumoral calcinosis
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Familial ventricular tachycardia
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Familial visceral myopathy with external ophthalmoplegia
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Familial Wilms tumor 2
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Fanconi anemia
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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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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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Fatal infantile encephalomyopathy
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Fatty acid hydroxylase-associated neurodegeneration
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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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Febrile Ulceronecrotic Mucha-Habermann disease
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Feigenbaum Bergeron Richardson syndrome
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Feigenbaum Bergeron syndrome
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Feingold syndrome
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Feingold Trainer syndrome
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Felty's syndrome
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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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Fertile eunuch syndrome
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Fetal akinesia deformation sequence
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Fetal akinesia syndrome X-linked
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Fetal Alcohol Spectrum Disorders
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Fetal aminopterin syndrome
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Fetal and neonatal alloimmune thrombocytopenia
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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 retinoid syndrome
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Fetal thalidomide syndrome
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Fetal valproate 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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Fibromatosis multiple non ossifying
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Fibrosarcoma
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Fibrosing mediastinitis
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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 aplasia, tibial campomelia, and oligosyndactyly syndrome
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Fibular hypoplasia and complex brachydactyly
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Fibular hypoplasia scapulo pelvic dysplasia absent
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Filippi syndrome
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Fine-Lubinsky syndrome
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Finger locking recurrent with intrauterine growth retardation and proportionate short stature
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Fish-eye disease
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Fitz-Hugh-Curtis syndrome
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Fitzsimmons syndrome
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Fitzsimmons Walson Mellor syndrome
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Fitzsimmons-Guilbert syndrome
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Flat umbilicus familial
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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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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 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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Fountain syndrome
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Fournier gangrene
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Fowler's 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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Fragile XE 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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Free sialic acid storage disease
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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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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 syndrome
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Frontal fibrosing alopecia
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Fronto nasal malformation cloacal exstrophy
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Frontofacionasal dysplasia
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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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Fructose-1,6-bisphosphatase deficiency
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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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Fuchs heterochromic iridocyclitis
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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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Fumarase deficiency
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Functioning pancreatic endocrine tumor
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Fundus dystrophy, pseudoinflammatory, of Sorsby
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Fuqua Berkovitz syndrome
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Furunculous myiasis
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Fused mandibular incisors