Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

F 2/2

• Fantasy Island syndrome - See Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
• FAO deficiency - See Sjogren-Larsson syndrome
• FAP - See Familial adenomatous polyposis
• Fara Chlupackova syndrome
• Farber disease - See Farber's disease
• Farber lipogranulomatosis - See Farber's disease
• Farber's disease
• Farmer's lung
• FAS deficiency - See Autoimmune lymphoproliferative syndrome
• Fascioliasis
• FASD - See Fetal Alcohol Spectrum Disorders - not a rare disease
• FASPS - See Advanced sleep phase syndrome, familial
• Fasting hypoglycemia - not a rare disease
• Fatal familial insomnia
• Fatal infantile encephalomyopathy
• Fatal multiple mitochondrial dysfunction syndrome - See Multiple mitochondrial dysfunctions syndrome
• Fatal multiple mitochondrial dysfunctions syndrome - See Multiple mitochondrial dysfunctions syndrome
• Fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys - See Siegler Brewer Carey syndrome
• Fatal neonatal hepatic steatosis - See Visceral steatosis
• Fatal pneumococcal Waterhouse-Friderichsen syndrome - See Waterhouse–Friderichsen syndrome
• FATCO syndrome - See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
• Fatty acid hydroxylase-associated neurodegeneration
• Fatty aldehyde dehydrogenase deficiency - See Sjogren-Larsson syndrome
• Fatty Liver with Encephalopathy - See Reye syndrome
• Fatty metamorphosis of viscera - See Visceral steatosis
• FATWO - See Wolffian tumor
• Faulk Epstein Jones syndrome
• FAv sequence - See Goldenhar disease
• FAVA - See Fibro-adipose vascular anomaly
• Favre hyaloideoretinal degeneration - See Goldmann-Favre syndrome
• Faye-Petersen-Ward-Carey syndrome
• FBD - See Dementia familial British
• FBH - See Familial hypocalciuric hypercalcemia
• FBH1 - See Familial hypocalciuric hypercalcemia type 1
• FBH2 - See Familial hypocalciuric hypercalcemia type 2
• FBH3 - See Familial hypocalciuric hypercalcemia type 3
• FBHH - See Familial hypocalciuric hypercalcemia
• FBHOk - See Familial hypocalciuric hypercalcemia type 3
• FBSN - See Familial bilateral striatal necrosis
• FBXL4 Deficiency - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• FCAS - See Familial cold autoinflammatory syndrome
• FCDT - See Focal cortical dysplasia of Taylor
• FCH - See Fetal cystic hygroma
• FCMD - See Fukuyama type muscular dystrophy
• FCS syndrome - See Costello syndrome
• FD - See Familial dysautonomia
• FDD - See Dementia, familial Danish
• FDFM - See ADCY5-related dyskinesia
• FDGC - See Hereditary diffuse gastric cancer
• FDH - See Focal dermal hypoplasia
• Features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss - SeeCraniofacial deafness hand syndrome
• Febrile infection-related epilepsy syndrome
• Febrile infection-related epilepsy syndrome - See Febrile infection-related epilepsy syndrome
• Febrile mucocutaneous syndrome - See Erythema multiforme
• Febrile Ulceronecrotic Mucha-Habermann disease
• FECD - See Fuchs endothelial corneal dystrophy - not a rare disease
• Fechtner syndrome - See MYH9 related thrombocytopenia
• FED - See Fish-eye disease
• Feigenbaum Bergeron Richardson syndrome
• Feigenbaum Bergeron syndrome
• Feingold syndrome
• Feingold Trainer syndrome
• Fellman syndrome - See GRACILE syndrome
• Felty syndrome - See Felty's syndrome
• Felty's syndrome
• Female adnexal tumor of probable Wolffian origin - See Wolffian tumor
• Female genital ducts in otherwise normal male - See Persistent Mullerian duct syndrome
• Female Pseudo-Turner Syndrome - See Noonan syndrome
• Female restricted epilepsy with intellectual deficit - See PCDH19-related female-limited epilepsy
• Female-restricted X-linked syndromic intellectual disability-99 - See X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
• Femoral dysgenesis, bilateral - See Femoral facial syndrome
• Femoral facial syndrome
• Femoral hypoplasia unusual facies syndrome - See Femoral facial syndrome
• Femoral trochlear dysplasia - See Trochlear dysplasia
• Femur bifid with monodactylous ectrodactyly
• Femur fibula ulna syndrome
• FENIB - See Familial encephalopathy with neuroserpin inclusion bodies
• Fenton Wilkinson Toselano syndrome
• FEO - See Polyostotic osteolytic dysplasia, hereditary expansile
• FEOM - See Congenital fibrosis of extraocular muscles
• FEPS - See Familial episodic pain syndrome
• Ferguson-Smith type epithelioma - See Multiple self healing squamous epithelioma
• Ferlini-Ragno-Calzolari syndrome - See Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
• Fernhoff-Blackston-Oakley syndrome - See Intrauterine growth retardation - mandibular malar hypoplasia
• Ferritin-related neurodegeneration - See Neuroferritinopathy
• Ferrocalcinosis, cerebrovascular - See Primary Familial Brain Calcification
• Ferrochelatase deficiency - See Erythropoietic protoporphyria
• Ferroportin disease - See Hemochromatosis type 4
• Fertile eunuch syndrome
• FET1 - See Tremor hereditary essential, 1
• Fetal acitretin syndrome - See Acitretin embryopathy
• Fetal akinesia deformation sequence
• Fetal akinesia sequence - See Fetal akinesia deformation sequence
• Fetal akinesia syndrome X-linked
• Fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus - SeeMicrophthalmia microtia fetal akinesia
• Fetal Alcohol Spectrum Disorders - not a rare disease
• Fetal Alcohol Syndrome (FAS) - type - See Fetal Alcohol Spectrum Disorders - not a rare disease
• Fetal aminopterin syndrome
• Fetal and neonatal alloimmune thrombocytopenia
• Fetal anticoagulant syndrome - See Warfarin syndrome
• Fetal brain disruption sequence
• Fetal cocaine syndrome - See Cocaine antenatal exposure
• Fetal cystic hygroma
• Fetal diethylstilbestrol syndrome - See Diethylstilbestrol syndrome
• Fetal edema
• Fetal effects of Chickenpox - See Congenital varicella syndrome
• Fetal effects of varicella zoster virus - See Congenital varicella syndrome
• Fetal enterovirus syndrome
• Fetal face syndrome - See Robinow syndrome
• Fetal hydantoin syndrome
• Fetal hypokinesia sequence due to restrictive dermopathy - See Tight skin contracture syndrome, lethal
• Fetal indomethacin syndrome
• Fetal iodine syndrome
• Fetal iritis syndrome - See Norrie disease
• Fetal left ventricular aneurysm
• Fetal macrosomia
• Fetal methimazole syndrome - See Methimazole antenatal exposure
• Fetal methotrexate syndrome - See Fetal aminopterin syndrome
• Fetal methylmercury syndrome
• Fetal minoxidil syndrome
• Fetal ovarian cyst - See Neonatal ovarian cyst
• Fetal parainfluenza virus type 3 syndrome
• Fetal parvovirus syndrome
• Fetal phenothiazine syndrome
• Fetal retinoid syndrome
• Fetal thalidomide syndrome
• Fetal transfusion syndrome - See Twin to twin transfusion syndrome
• Fetal valproate syndrome
• Fetal valproic acid syndrome - See Fetal valproate syndrome
• Fetal varicella infection - See Congenital varicella syndrome
• Fetal varicella zoster syndrome - See Congenital varicella syndrome
• Fetal warfarin syndrome - See Warfarin syndrome
• Fetofetal transfusion syndrome - See Twin to twin transfusion syndrome
• Fever-induced refractory epileptic encephalopathy in school-aged children - See Febrile infection-related epilepsy syndrome
• FEVR - See Familial exudative vitreoretinopathy
• FFA - See Frontal fibrosing alopecia
• FFDD type 2 - See Facial ectodermal dysplasia
• FFDD, type 1 - See Focal facial dermal dysplasia
• FFEVF - See Familial focal epilepsy with variable foci
• FFND - See Frontofacionasal dysplasia
• FFS - See Femoral facial syndrome
• FFU syndrome - See Femur fibula ulna syndrome
• FG syndrome
• FG syndrome 2
• FG syndrome 3
• FG syndrome 4 - See X-linked intellectual disability with or without nystagmus
• FGDY - See Aarskog syndrome
• FGS - See FG syndrome
• FGS1 - See FG syndrome
• FGS2 - See FG syndrome 2
• FGS3 - See FG syndrome 3
• FGS4 - See X-linked intellectual disability with or without nystagmus
• FH III - See Familial hyperaldosteronism type III
• FH2 - See Familial hyperaldosteronism type 2
• FH3 - See Familial hyperaldosteronism type III
• FHA - See Familial HDL deficiency
• FHBL - See Familial hypobetalipoproteinemia
• FHD - See Familial HDL deficiency
• FHF - See Tumor necrosis factor receptor-associated periodic syndrome
• FHH - See Familial hypocalciuric hypercalcemia
• FHH type 1 - See Familial hypocalciuric hypercalcemia type 1
• FHH1 - See Familial hypocalciuric hypercalcemia type 1
• FHHNC - See Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
• FHI - See Fuchs heterochromic iridocyclitis
• FHII - See Familial hyperaldosteronism type 2
• FH-III - See Familial hyperaldosteronism type III
• FHL - See Hemophagocytic lymphohistiocytosis
• FHL2 - See Hemophagocytic lymphohistiocytosis, familial, 2
• FHM - See Familial hemiplegic migraine
• FHM1 - See Familial hemiplegic migraine type 1
• FHM2 - See Familial hemiplegic migraine type 2
• FHM3 - See Familial hemiplegic migraine type 3
• FHS - See Floating-Harbor syndrome
• FHUFS - See Femoral facial syndrome
• Fiber-type disproportion myopathy, congenital - See Congenital fiber type disproportion
• FIBGC (formerly) - See Primary Familial Brain Calcification
• Fibrillary astrocytoma (histologic variant) - See Diffuse astrocytoma
• Fibrillary glomerulonephritis
• Fibrillary glomerulonephritis and immunotactoid glomerulopathy - See Immunotactoid or fibrillary glomerulopathy
• Fibrin stabilizing factor deficiency - See Factor XIII deficiency
• Fibrinogen deficiency, congenital
• Fibro adipose vascular anomaly - See Fibro-adipose vascular anomaly
• Fibro-adipose vascular anomaly
• Fibrocartilaginous embolism
• Fibrochondrogenesis
• Fibrocystic pulmonary dysplasia - See Idiopathic pulmonary fibrosis
• Fibrodysplasia ossificans progressiva
• Fibrofolliculomas with trichodiscomas and acrochordons - See Birt-Hogg-Dube syndrome
• Fibrolamellar carcinoma
• Fibrolamellar hepatocellular carcinoma - See Fibrolamellar carcinoma
• Fibrolamellar oncocytic hepatoma - See Fibrolamellar carcinoma
• Fibromatosis - not a rare disease
• Fibromatosis gingival, hepatosplenomegaly other anomalies - See Laband syndrome
• Fibromatosis gingival, hereditary, 1 - See Gingival fibromatosis, 1
• Fibromatosis gingival, hereditary, 2 - See Gingival fibromatosis, 2
• Fibromatosis gingival, hereditary, 3 - See Gingival fibromatosis, 3
• Fibromatosis gingival, hereditary, 4 - See Gingival fibromatosis, 4
• Fibromatosis multiple non ossifying
• Fibromatosis, familial infiltrative - See Desmoid tumor
• Fibromuscular dysplasia - not a rare disease
• Fibromuscular dysplasia of arteries - See Fibromuscular dysplasia - not a rare disease
• Fibronectin glomerulopathy - See Glomerulopathy with fibronectin deposits 2
• Fibrosarcoma
• Fibrosing alveolitis - See Idiopathic pulmonary fibrosis
• Fibrosing alveolitis, cryptogenic - See Idiopathic pulmonary fibrosis
• Fibrosing mediastinitis
• Fibrosing serositis, familial - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Fibrous ankylosis of multiple joints - See Arthrogryposis multiplex congenita
• Fibrous dysplasia
• Fibrous dysplasia of bone - See Fibrous dysplasia
• Fibula aplasia complex brachydactyly
• Fibula ulna duplication tibia radius absence - See Laurin-Sandrow syndrome
• Fibular aplasia ectrodactyly
• Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly - See Fuhrmann syndrome
• Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
• Fibular aplasia-tibial campomelia-oligosyndactyly syndrome - See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
• Fibular hemimelia
• Fibular hypoplasia and complex brachydactyly
• Fibular hypoplasia scapulo pelvic dysplasia absent
• Fibular longitudinal meromelia - See Fibular hemimelia
• Fibulo ulnar hypoplasia renal anomalies - See Saito Kuba Tsuruta syndrome
• Fibuloulnar aplasia or hypoplasia with renal abnormalities - See Saito Kuba Tsuruta syndrome
• FIF - See Desmoid tumor
• Fifteen dorsal vertebrae and rib pairs - See Melhem Fahl syndrome
• Fifth digit syndrome - See Coffin-Siris syndrome
• Fifth Disease - See Parvovirus antenatal infection
• Fifth toe, double nails - See Double nails on the fifth toe
• FIGD - See Eunuchoidism familial hypogonadotropic
• FIHP - See Familial isolated hyperparathyroidism
• Filaminopathy (type) - See Myofibrillar myopathy
• Filarial elephantiasis - See Lymphatic filariasis
• Filariasis - See Lymphatic filariasis
• Filippi syndrome
• FIM - See Congenital myasthenic syndrome with episodic apnea
• FIMG2 (formerly) - See Congenital myasthenic syndrome with episodic apnea
• Fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails - See Moloney syndrome
• Fine-Lubinsky syndrome
• Fingerprint body myopathy
• Finlay-Marks Syndrome - See Scalp ear nipple syndrome
• Finnish congenital nephrosis - See Congenital nephrotic syndrome Finnish type
• Finnish lactic acidosis with hepatic hemosiderosis - See GRACILE syndrome
• Finnish lethal neonatal metabolic syndrome - See GRACILE syndrome
• Finucane Kurtz Scott syndrome - See Epiphyseal dysplasia hearing loss dysmorphism
• FIPA - See Familial isolated pituitary adenoma
• FIRES - See Febrile infection-related epilepsy syndrome
• First and second branchial arch syndrome - See Hemifacial microsomia
• Fish malodor syndrome - See Trimethylaminuria
• Fish myxosporean parasites - See Myxozoa
• Fish odor syndrome - See Trimethylaminuria
• Fish scale disease - See Ichthyosis vulgaris
• Fish scale disease, acquired - See Ichthyosis, acquired
• Fish tank granuloma - See Mycobacterium Marinum
• Fish-eye disease
• Fishman syndrome - See Encephalocraniocutaneous lipomatosis
• Fistulous vegetative verrucous hydradenoma - See Syringocystadenoma papilliferum
• Fitz-Hugh-Curtis syndrome
• Fitzsimmons syndrome - See Fitzsimmons-Guilbert syndrome
• Fitzsimmons syndrome
• Fitzsimmons Walson Mellor syndrome
• Fitzsimmons-Guilbert syndrome
• Fixation of the scapula to the first rib by a congenitally short costocoracoid ligament - See Costocoracoid ligament congenitally short
• FJHN atypical - See Maturity-onset diabetes of the young
• FJHN type 2 - See REN-related autosomal dominant tubulointerstitial kidney disease
• Flat umbilicus autosomal dominant - See Flat umbilicus familial
• Flat umbilicus familial
• Flaujeac factor deficiency - See High molecular weight kininogen deficiency
• Flavimonas oryzihabitans Bacteremia - See Flavimonas oryzihabitans infection
• Flavimonas oryzihabitans infection
• FLD - See Familial LCAT deficiency
• Flegel disease - See Hyperkeratosis lenticularis perstans
• Flegel's disease - See Hyperkeratosis lenticularis perstans
• Fleisher syndrome - See Isolated growth hormone deficiency type 3
• FL-HCC - See Fibrolamellar carcinoma
• FLNMS - See GRACILE syndrome
• Floating spleen - See Wandering spleen
• Floating-Harbor syndrome
• Florid cemento-osseous dysplasia
• Florid cystic endosalpingiosis of the uterus
• florid osseous dysplasia - See Florid cemento-osseous dysplasia
• Florid papillomatosis - See Florid papillomatosis of the nipple
• Florid papillomatosis of the nipple
• FLOTCH syndrome
• Fluid retention syndrome - See Idiopathic edema - not a rare disease
• Flynn Aird syndrome
• Flynn-Aird syndrome - See Flynn Aird syndrome
• FMD - See Fibromuscular dysplasia - not a rare disease
• FMF - See Familial Mediterranean fever
• FMR1-related premature ovarian failure - See FMR1-related primary ovarian insufficiency
• FMR1-related primary ovarian insufficiency
• FN abnormality - See Ehlers-Danlos syndrome, dysfibronectinemic type
• FND - See Conversion disorder
• FND1 - See Frontonasal dysplasia
• FND3 - See Frontonasal dysplasia
• Foamy myocardial transformation of infancy - See Infantile histiocytoid cardiomyopathy
• Focal alopecia congenital megalencephaly
• focal cemento-osseous dysplasia - See Florid cemento-osseous dysplasia
• Focal cortical dysplasia of Taylor
• Focal cortical dysplasia type 2 - See Focal cortical dysplasia of Taylor
• Focal cortical dysplasia type II - See Focal cortical dysplasia of Taylor
• Focal dermal hypoplasia
• Focal dystonia - not a rare disease
• Focal facial dermal dysplasia
• Focal facial dermal dysplasia type 2 - See Facial ectodermal dysplasia
• Focal lipid cardiomyopathy - See Infantile histiocytoid cardiomyopathy
• Focal non epidermolytic palmoplantar keratoderma - See Tylosis
• Focal or multifocal malformations in neuronal migration
• Focal palmoplantar and gingival keratoderma
• Focal palmoplantar and oral mucosa hyperkeratosis - See Focal palmoplantar and gingival keratoderma
• Focal palmoplantar keratoderma with sensorineural deafness (subtype) - See Keratoderma palmoplantar deafness
• Focal sclerosis with hyalinosis - See Focal segmental glomerulosclerosis
• Focal segmental glomerulosclerosis
• Focal task specific dystonia - See Focal dystonia - not a rare disease
• FODH - See Focal dermal hypoplasia
• Foix Chavany Marie syndrome
• Folate malabsorption, hereditary - See Hereditary folate malabsorption
• Folic acid transport defect - See Hereditary folate malabsorption
• Follicle-stimulating hormone deficiency, isolated
• Follicular atrophoderma and basal cell carcinomas - See Bazex-Dupre-Christol syndrome
• Follicular atrophoderma-basal cell carcinoma syndrome - See Bazex-Dupre-Christol syndrome
• Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome - See Bazex-Dupre-Christol syndrome
• Follicular ichthyosis - See Ichthyosis, follicular
• Follicular lichen planus - See Lichen planopilaris
• Follicular lymphoma
• Follicular lymphoreticuloma
• Follicular thyroid cancer, Hurthle cell type - See Hurthle cell thyroid cancer
• Follicular thyroid carcinoma - See Thyroid cancer, follicular
• Folliculitis decalvans - See Quinquaud's decalvans folliculitis
• Folliculitis ulerythematosa - See Atrophoderma vermiculata
• Folliculitis ulerythematosa reticulata - See Atrophoderma vermiculata
• Folling disease - See Phenylketonuria
• Fong disease - See Nail-patella syndrome
• Fontaine Farriaux Blanckaert syndrome
• Foodborne botulism (subtype) - See Botulism
• FOP - See Fibrodysplasia ossificans progressiva
• Forbes disease - See Glycogen storage disease type 3
• Forbes-Albright syndrome (formerly) - See Prolactinoma
• Forelock - See Catatrichy
• Forestier disease - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
• Forestier-Rotes disease - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
• Formaldehyde poisoning
• Formaldehyde toxicity - See Formaldehyde poisoning
• Formalin intoxication - See Formaldehyde poisoning
• Formalin toxicity - See Formaldehyde poisoning
• Formiminoglutamic acidemia - See Glutamate formiminotransferase deficiency
• Formiminoglutamicaciduria (FIGLU-uria) - See Glutamate formiminotransferase deficiency
• Formiminotransferase deficiency syndrome - See Glutamate formiminotransferase deficiency
• Forney Robinson Pascoe syndrome - See Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
• Forsius Eriksson type ocular albinism - See Aland island eye disease
• FOSMN syndrome - See Facial onset sensory and motor neuronopathy
• Fountain syndrome
• Four corners hantavirus - See Hantavirus pulmonary syndrome
• Fournier gangrene
• Fournier's gangrene - See Fournier gangrene
• Fourth phacomatosis - See Sturge-Weber syndrome
• Foveal dystrophy progressive - See North Carolina macular dystrophy
• Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts - See O Donnell Pappas syndrome
• Foveal hypoplasia, presenile cataract - See O Donnell Pappas syndrome
• Foveal retinoschisis - See Retinoschisis of Fovea
• Foveomacular dystrophy, adult-onset, with choroidal neovascularization - See Adult-onset vitelliform macular dystrophy
• Foveomacular dystrophy, adult-onset; AOFMD - See Adult-onset vitelliform macular dystrophy
• Fowl Paralyses - See Marek disease
• Fowl Paralysis - See Marek disease
• Fowler Christmas Chapple syndrome - See Fowler's syndrome
• Fowler's syndrome
• FOXE3-related ocular disorder - See Anterior segment dysgenesis
• Fox-Fordyce disease
• Fox-Fordyce syndrome - See Fox-Fordyce disease
• FOXG1 syndrome
• FOXG1-related disorder - See FOXG1 syndrome
• FOXN1 deficiency - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
• FOXP1 related global developmental delay, intellectual disability and speech defects - See Intellectual disability-severe speech delay-mild dysmorphism syndrome
• FOXP1 syndrome - See Intellectual disability-severe speech delay-mild dysmorphism syndrome
• FPAH - See Pulmonary arterial hypertension
• FPC - See Familial adenomatous polyposis
• FPD/AML syndrome - See Familial platelet disorder with associated myeloid malignancy
• FPF - See Tumor necrosis factor receptor-associated periodic syndrome
• FPL2 - See Familial partial lipodystrophy type 2
• FPLD - See Familial partial lipodystrophy
• FPLD due to PLIN1 mutations - See Familial partial lipodystrophy
• FPLD1 - See Familial partial lipodystrophy type Köbberling
• FPLD2 - See Familial partial lipodystrophy type 2
• FPLD3 - See Familial partial lipodystrophy associated with PPARG mutations
• FPLD4 - See Familial partial lipodystrophy
• FPLD5 - See Familial partial lipodystrophy
• FPLD6 - See Familial partial lipodystrophy
• FPO - See Oto-palato-digital syndrome type 2
• FPS/AML syndrome - See Familial platelet disorder with associated myeloid malignancy
• FRA - See Pyogenic arthritis, pyoderma gangrenosum and acne
• Fra(X) syndrome - See Fragile X syndrome
• Fraccaro achondrogenesis - See Achondrogenesis
• Fragile site, folic acid type - See Fragile XE syndrome
• Fragile X syndrome
• Fragile X syndrome type 1
• Fragile X syndrome type 2
• Fragile X syndrome type 3
• Fragile X-associated primary ovarian insufficiency - See FMR1-related primary ovarian insufficiency
• Fragile XE syndrome
• Fragilitas oculi with joint hyperextensibility - See Brittle cornea syndrome
• Fragilitas ossium - See Osteogenesis imperfecta
• FRAM - See Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Frambesia - See Yaws
• Frambesia tropica - See Yaws
• Franceschini Vardeu Guala syndrome
• Francisella tularensis infection - See Tularemia
• Francois dyscephalic syndrome - See Hallermann-Streiff syndrome
• Francois syndrome - See Dermochondrocorneal dystrophy of François
• Franek-Bocker-Kahlen syndrome - See Microcephaly brain defect spasticity hypernatremia
• Frank Ter Haar syndrome
• Franklin disease - See Gamma heavy chain disease
• Fraser Jequier Chen syndrome
• Fraser syndrome
• Fraser-Francois syndrome - See Fraser syndrome
• Frasier syndrome
• FRAXA syndrome - See Fragile X syndrome
• FRAXD
• FRAXE syndrome - See Fragile XE syndrome
• FRDA - See Friedreich ataxia
• Free sialic acid storage disease
• Freeman Sheldon syndrome
• Freeman Sheldon syndrome, variant - See Sheldon-Hall syndrome
• Freeman Sheldon variant - See Sheldon-Hall syndrome
• Freeman-Sheldon syndrome variant - See Sheldon-Hall syndrome
• Freiberg-Kohler syndrome - See Freiberg's disease
• Freiberg's disease
• Freiberg's infraction - See Freiberg's disease
• Freire-Maia odontotrichomelic syndrome - See Odontotrichomelic syndrome
• Freire-Maia Pinheiro Opitz syndrome - See Neurofaciodigitorenal syndrome
• Freire-Maia syndrome - See Odontotrichomelic syndrome
• Frenga - See Bejel
• Frenkel Russe syndrome
• Frey syndrome - See Frey's syndrome
• Frey's syndrome
• FRHM - See Recurrent hydatidiform mole
• Frias syndrome
• Friedel Heid Grosshans syndrome
• Friedman Goodman syndrome
• Friedman-Goodman syndrome - See FACES syndrome
• Friedreich ataxia
• Friedreich-like ataxia - See Ataxia with vitamin E deficiency
• Friedreich-like ataxia with selective vitamin E deficiency - See Ataxia with vitamin E deficiency
• Friedreich's ataxia - See Friedreich ataxia
• Frints De Smet Fabry Fryns syndrome
• FRNS - See Fryns syndrome
• Froehlich syndrome - See Hypothalamic obesity
• Froelich's adiposity - See Hypothalamic obesity
• Froelich's syndrome - See Hypothalamic obesity
• Frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia - SeeAkaba Hayasaka syndrome
• Frontal fibrosing alopecia
• Frontal fibrosing alopecia (subtype) - See Lichen planopilaris
• Fronto nasal malformation cloacal exstrophy
• Fronto-facio-nasal dyplasia - See Frontofacionasal dysplasia
• Frontofacionasal dysostosis - See Frontofacionasal dysplasia
• Fronto-facio-nasal dysostosis - See Frontofacionasal dysplasia
• Frontofacionasal dysplasia
• Frontometaphyseal dysplasia
• Frontonasal dysplasia
• FRONTONASAL DYSPLASIA 1 - See Frontonasal dysplasia
• Frontonasal dysplasia 3 - See Frontonasal dysplasia
• Frontonasal dysplasia acromelic
• Frontonasal dysplasia and dilated virchow-robin spaces - See Sener syndrome
• Frontonasal dysplasia Klippel Feil syndrome
• Frontonasal dysplasia phocomelic upper limbs
• Frontonasal dysplasia type 1 - See Frontonasal dysplasia
• Frontonasal dysplasia type 2 - See Frontonasal dysplasia
• Frontonasal dysplasia type 3 - See Frontonasal dysplasia
• Frontonasal dysplasia with alar clefts - See Coloboma of alar-nasal cartilages with telecanthus
• Frontonasal dysplasia with alopecia and genital abnomality - See Frontonasal dysplasia
• Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia
• Frontonasal dysplasia-alopecia-genital anomalies syndrome - See Frontonasal dysplasia
• Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - See Frontonasal dysplasia
• Frontorhiny - See Frontonasal dysplasia
• Frontotemporal dementia
• Frontotemporal dementia with parkinsonism - See Frontotemporal dementia
• Frontotemporal dementia, ubiquitin-positive
• Frontotemporal lobe dementia (FLDEM) - See Frontotemporal dementia
• Froster-Huch syndrome
• Froster-Iskenius-Waterson syndrome - See Malignant hyperthermia arthrogryposis torticollis
• Fructose 1,6 diphosphatase deficiency - See Fructose-1,6-bisphosphatase deficiency
• Fructose intolerance, hereditary - See Hereditary fructose intolerance
• Fructose-1,6-bisphosphatase deficiency
• Fructose-1,6-bisphosphate aldolase B deficiency - See Hereditary fructose intolerance
• Fructose-1-phosphate aldolase deficiency - See Hereditary fructose intolerance
• Fructosuria - not a rare disease
• Frydman Cohen Ashkenazi syndrome - See Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
• Frydman Cohen Karmon syndrome - See Blepharophimosis with ptosis, syndactyly, and short stature
• Fryns anophthalmia syndrome - See Anophthalmia plus syndrome
• Fryns Fabry Remans syndrome
• Fryns Hofkens Fabry syndrome
• Fryns microphthalmia syndrome - See Anophthalmia plus syndrome
• Fryns smeets thiry syndrome
• Fryns syndrome
• Fryns-Aftimos syndrome - See Baraitser-Winter syndrome
• FS - See Pemphigus and fogo selvagem
• FSGS - See Focal segmental glomerulosclerosis
• FSHD - See Facioscapulohumeral muscular dystrophy
• FSHD1A - See Facioscapulohumeral muscular dystrophy
• FSHMD1A - See Facioscapulohumeral muscular dystrophy
• FSP - See Hereditary spastic paraplegia
• FSP2 - See Spastic paraplegia 4
• FSP3 - See Spastic paraplegia 6
• FSS - See Freeman Sheldon syndrome
• FTC - See Thyroid cancer, follicular
• FTD - See Frontotemporal dementia
• FTH1-related iron overload - See Hemochromatosis type 5
• FTLE - See Temporal epilepsy, familial
• FTSD - See Focal dystonia - not a rare disease
• FTSS - See Camptodactyly syndrome Guadalajara type 1
• Fuchs atrophia gyrata chorioideae et retinae - See Gyrate atrophy of choroid and retina
• Fuchs endothelial corneal dystrophy - not a rare disease
• Fuchs heterochromic cyclitis - See Fuchs heterochromic iridocyclitis
• Fuchs heterochromic iridocyclitis
• Fuchs heterochromic uveitis - See Fuchs heterochromic iridocyclitis
• Fucosidosis
• Fucosidosis type 1
• Fuhrmann syndrome
• Fukuda Miyanomae Nakata syndrome
• Fukuhara syndrome - See Myoclonic epilepsy with ragged red fibers
• Fukuyama type muscular dystrophy
• Fulminating hyperpyrexia - See Malignant hyperthermia
• Fumarase deficiency
• Fumarate hydratase deficiency - See Fumarase deficiency
• Fumaric aciduria - See Fumarase deficiency
• Fumarylacetoacetase deficiency - See Tyrosinemia type 1
• FUMHD - See Febrile Ulceronecrotic Mucha-Habermann disease
• Functional movement disorder - See Conversion disorder
• Functional neurological disorder - See Conversion disorder
• Functional seizures - See Dissociative seizures
• Functioning pancreatic endocrine tumor
• Fundus dystrophy, pseudoinflammatory recessive form - See Pseudoinflammatory fundus dystrophy
• Fundus dystrophy, pseudoinflammatory, of Sorsby
• Fuqua Berkovitz syndrome
• Furlong syndrome - See Loeys-Dietz syndrome
• Furuncular myiasis - See Furunculous myiasis
• Furunculous myiasis
• Fused incisors - See Single upper central incisor
• Fused legs and feet - See Sirenomelia
• Fused mandibular incisors
• Fusion just distal to the proximal radial epiphysis in association with congenital dislocation of the radial head - See Congenital radioulnar synostosis
• Fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis) - See Banki syndrome
• Fusospirillary gingivitis - See Acute necrotizing ulcerative gingivitis
• Fusospirillosis - See Acute necrotizing ulcerative gingivitis
• FVS - See Fetal valproate syndrome
• FWT2 - See Familial Wilms tumor 2
• FXS - See Fragile X syndrome