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Fabry Disease

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

Subdivisions: type 1 classic phenotype, type 2 later-onset phenotype

Facioscapulohumeral Muscular Dystrophy

Also known as: facio-scapulo-humeral dystrophy, FMD, FSH, FSHD

Subdivisions: facioscapulohumeral muscular dystrophy 1, facioscapulohumeral muscular dystrophy 2

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

Subdivisions: attenuated FAP, familial adenomatous polyposis, Gardner syndrome, Turcot syndrome

Familial Cold Autoinflammatory Syndrome

Also known as: familial cold urticaria, FCAS, FCU

Familial Encephalopathy with Neuroserpin Inclusion Bodies

Also known as: familial encephalopathy with Collins bodies, FENIB

Familial Eosinophilic Cellulitis

Also known as: Eosinophilic Cellulitis, Granulomatous Dermatitis with Eosinophilia, Wells syndrome

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

Subdivisions: heterozygous familial hypercholesterolemia, homozygous familial hypercholesterolemia

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

Subdivisions: autosomal dominant hypophosphatemic rickets (ADHR), autosomal recessive hypophosphatemic rickets, X-linked hypophosphatemic rickets

Familial Isolated Hypoparathyroidism

Also known as: FIH

Familial Lipoprotein Lipase Deficiency

Also known as: familial LPL deficiency, hyperlipoproteinemia type 1

Familial Mediterranean Fever

Also known as: familial paroxysmal polyserositis, FMF, recurrent polyserositis

Subdivisions: familial Mediterranean fever type 1, familial Mediterranean fever type 2

Familial Partial Lipodystrophy

Also known as: FPL, Kobberling-Dunnigan syndrome, lipoatrophic diabetes

Subdivisions: autosomal recessive FPL, FPL type 1 (Kobberling lipodystrophy), FPL type 2 (Dunnigan lipodystrophy), FLP type 3, FLP type 4, FLP type 5

Familial Platelet Disorder with Associated Myeloid Malignancy

Also known as: familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML), familial platelet disorder with propensity to myeloid malignancy (FPDMM), familial platelet disorder with associated myeloid malignancy

Fanconi Anemia

Also known as: Fanconi pancytopenia, FA

Fascioliasis

Also known as: Fasciolosis, Liver fluke disease

Subdivisions: Halzoun Syndrome

Fatal Familial Insomnia

Also known as: FFI

Felty Syndrome

Also known as: Splenomegaly with Rheumatoid Arthritis

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 Hydantoin Syndrome

Also known as: Dilantin embryopathy, Phenytoin embryopathy, Hydantoin embryopathy

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

FG Syndrome Type 1

Also known as: FGS1, Opitz-Kaveggia syndrome

Fibrillary Glomerulonephritis

Also known as: fibrillary GN, non-amyloid fibrillary glomerulopathy, Congo red-negative amyloidosis-like glomerulopathy, don-amyloid fibrillary glomerulonephritis

Fibrodysplasia Ossificans Progressiva

Also known as: FOP, myositis ossificans progressiva

Fibrolamellar Carcinoma

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

Fibromuscular Dysplasia

Also known as: FMD

Fibrosing Mediastinitis

Also known as: mediastinal fibrosis, sclerosing mediastinitis, FM

Subdivisions: fibrosing mediastinitis as a late complication of histoplasmosis (post-Histoplasma fibrosing mediastinitis or PHFM), idiopathic fibrosing mediastinitis

Fibrous Dysplasia

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

Subdivisions: monostotic fibrous dysplasia, polyostotic fibrous dysplasia

Filariasis

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

Fitz Hugh Curtis Syndrome

Also known as: Gonococcal Perihepatitis, Perihepatitis Syndrome

Floating Harbor Syndrome

Also known as: FHS, Pelletier-Leisti syndrome

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

Focal Segmental Glomerulosclerosis

Also known as: FSGS

Subdivisions: adaptive focal segmental glomerulosclerosis, idiopathic focal segmental glomerulosclerosis, postadaptive focal segmental glomerulosclerosis, primary focal segmental glomerulosclerosis, medication-associated focal segmental glomerulosclerosis, virus-associated focal segmental glomerulosclerosis

Follicular Lymphoma

Subdivisions: pediatric follicular lymphoma, primary gastrointestinal follicular lymphoma, transformed follicular lymphoma

Food Protein-Induced Enterocolitis Syndrome

Also known as: dietary protein enterocolitis, FPIES

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

Fox Fordyce Disease

Also known as: apocrine duct occlusion, apocrine miliaria

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

Subdivisions: Fraser syndrome 1 (FRASRS1), Fraser syndrome 2 (FRASRS2), Fraser syndrome 3 (FRASRS3)

Freeman Sheldon Syndrome

Also known as: Freeman-Burian syndrome, FBS, craniocarpotarsal dysplasia, craniocarpotarsal dysplasia, DA2A, distal arthrogryposis type 2A, FSS, whistling face syndrome, whistling face-windmill vane hand syndrome

Subdivisions: Freeman-Sheldon syndrome type 1, classic, Freeman-Sheldon syndrome type 2, craniofacial, Freeman-Sheldon syndrome type 3, mixed (upper or lower extremities)

Frey Syndrome

Also known as: auriculotermporal syndrome, gustatory sweating

Friedreich’s Ataxia

Also known as: FRDA

Froelich Syndrome

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

Frontofacionasal Dysplasia

Also known as: facio-fronto-nasal dysplasia, FFND, frontofacionasal dysostosis

Frontonasal Dysplasia

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

Subdivisions: Frontonasal dysplasia-1, Frontonasal dysplasia-2, Frontonasal dysplasia-3

Frontotemporal Degeneration

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

Subdivisions: behavioral variant frontotemporal degeneration (bvFTD), primary progressive aphasia (PPA), semantic variant primary progressive aphasia (svPPA), nonfluent variant primary progressive aphasia (naPPA), logopenic variant primary progressive aphasia (lvPPA), progressive supranuclear palsy (PSP) syndrome, corticobasal syndrome (CBS), FTD with motor neuron disease (FTD-MND)

Fructose Intolerance, Hereditary

Also known as: Fructose-1-Phosphate Aldolase Deficiency, Fructosemia

Fryns Syndrome

Also known as: FRNS

Fucosidosis

Also known as: alpha-L-fucosidase deficiency

Subdivisions: fucosidosis type 1, fucosidosis type 2

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

Subdivisions: No subdivisions found

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

Rare Disease Database

Search Results for: F

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