To Top

Rare Disease Database

Search Results for: F

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Fabry Disease

Also known as: alpha-galactosidase A deficiency, Anderson-Fabry disease, angiokeratoma corporis diffusum, angiokeratoma diffuse, GLA deficiency

Factor VII Deficiency

Also known as: Alexander's disease, congenital factor VII deficiency, inherited factor VII deficiency

Factor X Deficiency

Also known as: congenital factor X deficiency, congenital Stuart factor deficiency, F10 deficiency, Stuart-Power factor deficiency

Factor XI Deficiency

Also known as: haemophilia C, hemophilia C, plasma thromboplastin antecedent deficiency, PTA deficiency, Rosenthal syndrome

Factor XII Deficiency

Also known as: F12 deficiency, HAF deficiency, Hageman factor deficiency, Hageman trait

Factor XIII Deficiency

Also known as: congenital factor XIII deficiency, fibrin stabilizing factor deficiency, inherited factor XIII deficiency

Familial Adenomatous Polyposis

Also known as: adenomatous polyposis of the colon (APC), familial multiple polyposis, FAP, hereditary polyposis coli, multiple polyposis of the colon

Familial Hypercholesterolemia

Also known as: autosomal dominant hypercholesterolemia, FH, hyperlipoproteinemia, type IIA, LDLR-related familial hypercholesterolemia, autosomal dominant, APOB-related familial hypercholesterolemia, autosomal dominant, PCSK9-related familial hypercholesterolemia, autosomal dominant

Familial Hypophosphatemia

Also known as: hereditary type I hypophosphatemia (HPDR I), hereditary type II hypophosphatemia (HPDR II), hypophosphatemic D-resistant rickets I, hypophosphatemic D-resistant rickets II, phosphate diabetes, X-linked hypophosphatemia , XLH, X-linked vitamin D-resistant rickets


Also known as: Fasciolosis, Liver fluke disease

Femoral Facial Syndrome

Also known as: femoral dysgenesis, bilateral, femoral dysgenesis, bilateral-Robin anomaly , femoral hypoplasia-unusual facies syndrome, FFS, isolated femoral hypoplasia

Ferroportin Disease

Also known as: hemochromatosis type 4, SLC40A1-related hereditary hemochromatosis

Fetal Alcohol Syndrome

Also known as: Alcohol, Fetal Effects of, Alcoholic Embryopathy, Alcohol-Related Birth Defects, FAS

Fetal Retinoid Syndrome

Also known as: Accutane embryopathy, Accutane-exposed pregnancies, Accutane, fetal effects of, isotretinoin embryopathy, isotretinoin, fetal effects of, isotretinoin teratogen syndrome, retinoic acid embryopathy

Fetal Valproate Syndrome

Also known as: valproic acid embryopathy, susceptibility to valproate embryopathy, fetal valproic acid syndrome, FVS

Fibrolamellar Carcinoma

Also known as: fibrolamellar carcinoma or cancer (FLC), fibrolamellar hepatocellular carcinoma (FL-HCC)

Fibrous Dysplasia

Also known as: FD, fibrous dysplasia of bone, Jaffe-Lichtenstein disease


Also known as: Bancroftian Filariasis, Filarial Elephantiasis, Filariasis Malayi, Malayi Tropical Eosinphilia, Wuchereriasis

Filippi Syndrome

Also known as: Syndactyly Type I with Microcephaly and Mental Retardation

Focal Dermal Hypoplasia

Also known as: combined mesoectodermal dysplasia, DHOF, ectodermal and mesodermal dysplasia, congenital, ectodermal and mesodermal dysplasia with osseous involvement, FDH, focal dermal dysplasia syndrome, focal dermato-phalangeal dysplasia, FODH, Goltz-Gorlin Syndrome, Goltz Syndrome

Formaldehyde Poisoning

Also known as: Formaldehyde Exposure, Formaldehyde Toxicity, Formalin Intoxication, Formalin Toxicity

Fountain Syndrome

Also known as: intellectual disability-deafness-skeletal abnormalities-coarse face with full lips

Fournier Gangrene

Also known as: Fournier disease, Fournier's disease, Fourniers disease, Fournier's gangrene, Fourniers gangrene, gangrene, Fournier, gangrene, Fournier's, necrotizing fasciitis of the perineum and genitalia, synergistic necrotizing fasciitis of the perineum and genitalia

Fragile X Syndrome

Also known as: fragile site, folic acid type, rare, Fra(X)(Q27.3), marker X syndrome, Martin-Bell syndrome

Fraser Syndrome

Also known as: cryptophthalmos-syndactyly syndrome, cryptophthalmos syndrome, cryptophthalmos with other malformations, Fraser-Francois syndrome, Meyer-Schwickerath syndrome, Ulrich-Feichtiger syndrome, FS

Freeman Sheldon Syndrome

Also known as: Craniocarpotarsal dystrophy (dysplasia), DA2A, Distal arthrogryposis type 2A, FSS, Whistling face syndrome, Whistling face-windmill vane hand syndrome

Frey Syndrome

Also known as: auriculotermporal syndrome, gustatory sweating

Froelich Syndrome

Also known as: adiposogenital dystrophy, Babinski-Froelich syndrome, dystrophia adiposogenitalis, Frolich's syndrome, hypothalamic infantilism-obesity, Launois-Cleret syndrome

Frontonasal Dysplasia

Also known as: FND, median cleft face syndrome, Frontorhiny, Frontonasal malformation; FNM

Frontotemporal Degeneration

Also known as: frontotemporal dementia, frontotemporal lobar degeneration, FTD, FTLD, Pick’s disease (limited, see below)


Also known as: alpha-L-fucosidase deficiency

Fukuyama Type Congenital Muscular Dystrophy

Also known as: cerebromuscular dystrophy, Fukuyama type, congenital muscular dystrophy, Fukuyama type, FCMD, micropolygyria with muscular dystrophy, muscular dystrophy, congenital, Fukuyama type, muscular dystrophy, congenital progressive with mental retardation, muscular dystrophy, congenital with central nervous system involvement, muscular dystrophy, fukuyama type

Functional Neurological Disorder

Also known as: functional neurological symptom disorder, functional movement disorder, conversion disorder, psychogenic seizures / movement disorder , dissociative seizures / motor disorder, non-epileptic seizures, FND