- Familial syndrome of aniridia and absence of the patella - See Aniridia absent patella
- Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism - See Aortic arch anomaly - peculiar facies - intellectual disability
- Familial syndrome of short stature, deformities of the hands and feet, and unusual facies - See Hand and foot deformity with flat facies
- Familial TAAD - See Familial thoracic aortic aneurysm and dissection
- Familial temporal lobe epilepsy - See Temporal epilepsy, familial
- Familial Testotoxicosis (subtype) - See Testotoxicosis
- Familial tetralogy of fallot and glaucoma - See Tetralogy of fallot and glaucoma
- Familial thoracic aortic aneurysm - See Familial thoracic aortic aneurysm and dissection
- Familial thoracic aortic aneurysm and aortic dissection - See Familial thoracic aortic aneurysm and dissection
- Familial thoracic aortic aneurysm and dissection
- Familial thrombocytopenia with propensity to acute myelogenous leukemia - See Familial platelet disorder with associated myeloid malignancy
- Familial thyroglossal duct cyst
- Familial torticollis - See Torticollis, familial
- Familial transient erythroblastopenia of childhood - See Transient erythroblastopenia of childhood
- Familial transthyretin amyloidosis
- Familial trigeminal anesthesia - See Corneal hypesthesia, familial
- Familial tumoral calcinosis
- Familial tylosis (subtype) - See Tylosis
- Familial type IV hyperlipoproteinemia - See Hyperlipoproteinemia type 4
- Familial ulnar aplasia and lobster claw syndrome - See Ulnar hypoplasia lobster claw deformity of feet
- Familial unilateral and bilateral occipital calcifications and epilepsy - See Epilepsy occipital calcifications
- Familial vascular leukoencephalopathy - See CADASIL
- Familial vasovagal syncope - See Familial neurocardiogenic syncope
- Familial ventricular tachycardia
- Familial vestibulopathy - See Benign paroxysmal positional vertigo
- Familial visceral myopathy with external ophthalmoplegia
- Familial vocal cord dysfunction - See Vocal cord dysfunction familial
- Familial Waldmann's disease (type) - See Primary intestinal lymphangiectasia
- Familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency - SeeWhite matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
- Familial Wilms tumor 2
- Familial woolly hair (autosomal recessive) - See Woolly hair syndrome
- Familial Xanthomatosis - See Wolman disease
- Familial X-linked 1 atypical mycobacteriosis - See NF-kappa B Essential Modulator Deficiency
- FAMMM syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
- FAMM-PC syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
- Fanconi anemia
- Fanconi Bickel syndrome
- Fanconi pancytopenia - See Fanconi anemia
- Fanconi syndrome
- Fanconi syndrome with intestinal malabsorption and galactose intolerance - See Fanconi Bickel syndrome
- Fanconi's anemia - See Fanconi anemia
- 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
sábado, 26 de enero de 2019
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
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