List of rare diseases-F
NIH genetic and rare disease info[edit source]
List of rare diseases-F is a rare disease.
- F syndrome
- F. Oryzihabitans infection
- F10 deficiency
- F11 deficiency
- F12 deficiency
- F2-Related Thrombophilia
- F7 deficiency
- FAA4
- Fabry disease
- Face blindness
- FACES syndrome
- Facial arteriovenous malformation
- Facial clefting corpus callosum agenesis
- Facial cranial nerve paralysis
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
- Facial dysmorphism shawl scrotum joint laxity
- Facial ectodermal dysplasia
- Facial features (unique), anorexia, cachexia, eye and skin anomalies
- Facial infiltrating lipomatosis
- Facial nerve palsy
- Facial nerve palsy due to herpes zoster infection
- Facial nerve palsy due to VZV
- Facial nerve paralysis due to VZV
- Facial onset sensorimotor neuronopathy syndrome
- Facial onset sensory and motor neuronopathy
- Facial onset sensory and motor neuronopathy syndrome
- Facial palsy
- Facial paralysis
- Facial paresis hereditary congenital
- Facio digito genital syndrome recessive form
- Facio skeletal genital syndrome Rippberger type
- Facio thoraco genital syndrome
- Facioaudiosymphalangism syndrome
- Facioauriculovertebral dysplasia
- Facioauriculovertebral sequence
- Faciocardiomelic dysplasia lethal
- Faciocardiorenal syndrome
- Faciocutaneoskeletal syndrome
- Faciodigitogenital syndrome
- Faciogenital dysplasia
- Faciogenitopopliteal syndrome
- Faciomandibular myoclonus, nocturnal
- Faciooculoacousticorenal syndrome
- Faciopalatoosseous syndrome
- Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation
- Facioscapulohumeral muscular dystrophy
- Facioscapulohumeral muscular dystrophy 1A
- Faciothoracoskeletal syndrome
- Factor 12 deficiency
- Factor 7 deficiency
- Factor 8 deficiency
- Factor II deficiency
- Factor II-related thrombophilia
- Factor IX deficiency
- Factor V deficiency
- Factor V Leiden thrombophilia- not a rare disease.
- Factor V Quebec
- Factor VII deficiency
- Factor VIII deficiency
- Factor X deficiency
- Factor X deficiency, congenital
- Factor XI deficiency
- Factor XII deficiency
- Factor XIII deficiency
- FAD
- FADH deficiency
- FADS
- FAH deficiency
- FAHN
- Fahr disease, familial (formerly)
- Fahr's Syndrome (formerly)
- Fairbank-Keats syndrome
- Faisalabad histiocytosis
- FALDH deficiency
- Fallopian tube cancer
- Fallot complex with severe mental and growth retardation
- Fallot tetralogy
- False bundle branch block syndrome- not a rare disease.
- Familiaere Cholesterin-Pneumonie
- Familial absence of the patella
- Familial acrogeria
- Familial acute necrotizing encephalopathy
- Familial adenomatous polyposis
- Familial adenomatous polyposis of the colon
- Familial adrenal adenoma
- Familial advanced sleep phase syndrome
- Familial Alzheimer disease
- Familial Alzheimer disease
- Familial Alzheimer disease
- Familial amniotic bands
- Familial amyloid nephropathy
- Familial amyloid polyneuropathy
- Familial amyloid polyneuropathy type IV
- Familial amyloidosis
- Familial amyloidosis, Finnish type
- Familial ankylosing vertebral hyperostosis with tylosis
- Familial anomalous origin of right pulmonary artery
- Familial antiphospholipid syndrome
- Familial aortic aneurysm
- Familial aortic dissection
- Familial apatite disease
- Familial aplasia of the patella (subtype)
- Familial apoceruloplasmin deficiency
- Familial apple peel jejunal atresia
- Familial ARPA
- Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension
- Familial articular chondrocalcinosis
- Familial ataxia, deafness, and developmental delay
- Familial ataxia-hypogonadism syndrome
- Familial atrial fibrillation
- Familial Atypical Mole Melanoma Syndrome- not a rare disease.
- Familial atypical mole syndrome- not a rare disease.
- Familial atypical multiple mole melanoma syndrome- not a rare disease.
- Familial atypical multiple mole melanoma-pancreatic carcinoma- not a rare disease.
- Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome- not a rare disease.
- Familial auto-immune hemolytic anemia (subtype)
- Familial avascular necrosis of the femoral head
- Familial band heterotopia
- Familial benign copper deficiency
- Familial benign essential hematuria- not a rare disease.
- Familial benign hypercalcemia
- Familial benign hypercalcemia type 1
- Familial benign hypercalcemia, Oklahoma variant
- Familial benign hypercalcemia, type 2
- Familial benign hypercalcemia, type 3
- Familial benign hypocupremia
- Familial benign pemphigus
- Familial benign recurrent vertigo
- Familial bilateral optic nerve hypoplasia
- Familial bilateral striatal necrosis
- Familial biparental hydatidiform mole
- Familial brain cavernous angioma
- Familial brain cavernous hemangioma
- Familial breast cancer- not a rare disease.
- Familial breast carcinoma- not a rare disease.
- Familial British dementia
- Familial cafe´-au-lait spots
- Familial Calcium pyrophosphate dihydrate deposition disease
- Familial candidiasis- not a rare disease.
- Familial capillaro-venous leptomeningeal angiomatosis
- Familial caudal dysgenesis
- Familial cerebral cavernoma
- Familial cerebral cavernous malformation
- Familial chloride diarrhea
- Familial chronic mucocutaneous candidiasis
- FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT
- Familial Clark nevus syndrome- not a rare disease.
- Familial cold autoinflammatory syndrome
- Familial cold urticaria
- Familial colorectal cancer
- Familial congenital controlateral synkinesia
- Familial congenital cornea guttata with anterior polar cataracts (type)
- Familial congenital hypopituitarism
- Familial congenital mirror movements
- Familial congenital moderate neural hearing loss
- Familial congenital muscular dystrophy with gonadal dysgenesis
- Familial congenital palsy of trochlear nerve
- Familial continuous skin peeling
- Familial continuous skin peeling syndrome
- Familial cutaneous collagenoma
- Familial cyclic vomiting syndrome (subtype)- not a rare disease.
- Familial cylindromatosis
- Familial Danish dementia
- Familial deafness
- Familial defective apolipoprotein B-100- not a rare disease.
- Familial dementia, British type
- Familial dermatofibrosarcoma protuberans (subtype)
- Familial dermatographism
- Familial dermographism
- Familial diffuse cancer of stomach
- Familial diffuse gastric cancer
- Familial dilated cardiomyopathy
- Familial dilated cardiomyopathy associated with cataracts and hip-spine disease
- Familial Dupuytren contracture- not a rare disease.
- Familial dwarfism and painful muscle spasms
- Familial dysautonomia
- Familial dysautonomia, type 2
- Familial dysautonomia, type II
- Familial dysbetalipoproteinemia
- Familial dyschondroplasia
- Familial dysfibrinogenemia
- Familial dyskinesia and facial myokymia
- Familial dysplastic nevus syndrome- not a rare disease.
- Familial ectodermal dysplasia with sensori-neural deafness and other anomalies
- Familial ectopia lentis
- Familial ectopic ossification
- Familial ectopic pupil
- Familial encephalopathy with neuroserpin inclusion bodies
- Familial enteropathy, microvillus
- Familial eosinophilia
- Familial epilepsy and mental retardation limited to females
- Familial episodic pain syndrome
- Familial erythema nodosum
- Familial erythrocytosis
- Familial erythrocytosis 1
- Familial erythrocytosis type 1
- Familial erythrophagocytic lymphohistiocytosis
- Familial essential tremor- not a rare disease.
- Familial expansile osteolysis
- Familial exudative vitreoretinopathy
- Familial fatal insomnia
- Familial fat-induced hypertriglyceridemia
- Familial Felty's syndrome
- Familial focal epilepsy with variable foci
- Familial foveal retinoschisis
- Familial gingival fibromatosis associated with progressive deafness
- Familial glucocorticoid deficiency
- Familial hand abnormality and sensori-neural deafness
- Familial HCM
- Familial HDL deficiency
- Familial hematuric nephritis- not a rare disease.
- Familial hemiplegic migraine
- Familial hemiplegic migraine type 1
- Familial hemiplegic migraine type 2
- Familial hemiplegic migraine type 3
- Familial hemiplegic migraine-2
- Familial hemophagocytic lymphohistiocytosis
- Familial hibernation syndrome
- Familial Hibernian fever
- Familial high density lipoprotein deficiency disease
- Familial Hirschsprung's disease and type D brachydactyly
- Familial histiocytic reticulosis
- Familial hydroa vacciniforme
- Familial hydrocephalus with a low-insertion umbilicus
- Familial hyperaldosteronism type 1
- Familial hyperaldosteronism type 2
- Familial hyperaldosteronism type 3
- Familial hyperaldosteronism type II
- Familial hyperaldosteronism type III
- Familial hypercholesterolemia- not a rare disease.
- Familial hypercholesterolemia due to ligand-defective- not a rare disease.
- Familial hypercholesterolemic xanthomatosis- not a rare disease.
- Familial hyperchylomicronemia
- Familial hyperestrogenism
- Familial hyperinsulinism
- Familial hypersecretion of adrenal androgens
- Familial hypertension- not a rare disease.
- Familial hyperthyroidism due to mutations in TSH receptor
- Familial hypertrophic cardiomyopathy
- Familial Hypoalphalipo-proteinemia
- Familial hypobetalipoproteinemia
- Familial hypocalciuric hypercalcemia
- Familial hypocalciuric hypercalcemia type 1
- Familial hypocalciuric hypercalcemia type 2
- Familial hypocalciuric hypercalcemia type 3
- Familial hypogonadotropic eunuchoidism
- Familial hypokalemia-hypomagnesemia
- Familial hypopituitarism
- Familial hypotransferrinemia
- Familial idiopathic basal ganglia calcification (formerly)
- Familial idiopathic nephrotic syndrome
- Familial idiopathic nephrotic syndrome
- Familial idiopathic priapism
- Familial idiopathic pulmonary fibrosis
- Familial idiopathic steroid-resistant nephrotic syndrome
- Familial idiopathic steroid-resistant nephrotic syndrome
- Familial incomplete male pseudohermaphroditism, type 2
- Familial infantile hypoglycemia precipitated by leucine
- Familial infantile nephrotic syndrome with ocular abnormalities
- Familial infiltrative fibromatosis
- Familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps
- Familial interstitial fibrosis
- Familial intestinal polyatresia syndrome
- Familial intestinal polyposis
- Familial intrahepatic cholestasis of pregnancy
- Familial isolated deficiency of vitamin E
- Familial isolated hyperparathyroidism
- Familial isolated pituitary adenoma
- Familial isolated pituitary adenoma syndrome
- Familial isolated vitamin E deficiency
- Familial joint instability syndrome
- Familial joint instability syndrome
- Familial Juvenile Hyperuricemic Nephropathy 1
- Familial juvenile hyperuricemic nephropathy type 2
- Familial Kleine-Levin syndrome
- Familial koilonychia
- Familial LCAT deficiency
- Familial leiomyomatosis
- Familial Lenègre disease
- Familial Lev disease
- Familial Lev-Lenègre disease
- Familial ligand-defective apolipoprotein B-100- not a rare disease.
- Familial lipomyelomeningocele
- Familial lipoprotein lipase deficiency
- Familial LPL deficiency
- Familial Marcus Gunn phenomenon (subtype)
- Familial Mediterranean fever
- Familial megaloblastic anemia
- Familial mesangial sclerosis
- Familial microtia and meatal atresia
- Familial microtia with meatal atresia and conductive deafness
- Familial middle ear ossicular anomalies
- Familial mixed cryoglobulinemia
- Familial multiple lipomatosis
- Familial multiple polyposis
- Familial multiple trichodiscomas
- Familial multiple trichoepithelioma
- Familial nasal acilia
- Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome
- Familial neurocardiogenic syncope
- Familial non-immune hydrops fetalis
- Familial non-immune hyperthyroidism
- Familial nonmedullary thyroid cancer, papillary
- Familial nonpolyposis colon cancer- not a rare disease.
- Familial nonsyndromal Mondini dysplasia (subtype)
- Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity
- Familial ocular anterior segment mesenchymal dysgenesis
- Familial opticoacoustic nerve degeneration and polyneuropathy
- Familial orthostatic tachycardia due to norepinephrine transporter deficiency
- Familial ossicular malformations
- Familial osteochondritis dissecans
- Familial osteonecrosis of the femoral head
- Familial oto-facio-cervical dysmorphia
- Familial Paget disease of bone
- Familial PAH, leucopenia and ASD
- Familial pancreatic cancer
- Familial pancreatic carcinoma
- Familial paroxysmal kinesigenic dyskinesia
- Familial paroxysmal polyserositis
- Familial partial epilepsy with variable foci
- Familial partial lipodystrophy
- Familial partial lipodystrophy associated with PLIN1 mutations
- Familial partial lipodystrophy associated with PPARG mutations
- Familial partial lipodystrophy due to AKT2 mutations
- Familial partial lipodystrophy type 1
- Familial partial lipodystrophy type 2
- Familial partial lipodystrophy type 3
- Familial partial lipodystrophy type 4
- Familial partial lipodystrophy type Köbberling
- Familial partial lipodystrophy, Dunnigan type
- Familial partial lipodystrophy, Köbberling type
- Familial partial paralysis
- Familial PCCD
- Familial periodic paralysis
- Familial persistent pulmonary hypertension of the newborn
- Familial pheochromocytoma-paraganglioma
- Familial pigmented purpuric eruption
- Familial PKD
- Familial platelet disorder with associated myeloid malignancy
- Familial platelet disorder with predisposition to acute myelogenous leukemia
- Familial platelet disorder with predisposition to myeloid malignancy
- Familial platelet disorder with propensity to acute myeloid leukemia
- Familial platelet syndrome with predisposition to acute myelogenous leukemia
- Familial polymorphic ventricular tachycardia
- Familial polymorphous cold eruption
- Familial polyposis of the colon
- Familial porencephalic white matter disease
- Familial porencephaly
- Familial precocious puberty
- Familial premature ovarian failure
- Familial primary biliary cirrhosis
- Familial primary gastric lymphoma
- Familial primary hyperparathyroidism
- Familial primary hyperparathyroidism with multiple ossifying jaw fibromas
- Familial primary hypomagnesemia
- Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
- Familial progressive cardiac conduction defect
- Familial progressive heart block
- Familial progressive myoclonic epilepsy
- Familial progressive supranuclear palsy (type)
- Familial progressive vestibulocochlear dysfunction
- Familial prostate cancer
- Familial pulmonary arterial hypertension
- Familial pulmonary arterial hypertension leucopenia and atrial septal defect
- Familial pulmonary arterial hypertension, leucopenia and ASD
- Familial pulmonary capillary hemangiomatosis
- Familial pyrimidinemia- not a rare disease.
- Familial reactive perforating collagenosis
- Familial rectal pain
- Familial rectal syndrome
- Familial recurrent arthritis
- Familial recurrent hydatidiform mole
- Familial recurrent intrahepatic cholestasis of pregnancy
- Familial remitting chorea, nystagmus and cataracts
- Familial renal amyloidosis
- Familial reticulate acropigmentation of Dohi
- Familial retinal arterial macroaneurysm
- Familial rhizomelic dysplasia
- Familial scaphocephaly syndrome, McGillivray type
- Familial Scheuermann disease
- Familial Scheuermann juvenile kyphosis
- Familial short stature with facial dysmorphism and osteochondrodysplastic lesions
- Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails
- Familial sick sinus syndrome
- Familial sinus node dysfunction
- Familial spastic paraparesis
- Familial spastic paraparesis and deafness
- Familial spastic paraplegia
- Familial spastic paraplegia autosomal dominant 2
- Familial spastic paraplegia autosomal dominant 3
- Familial spastic paraplegia with neuropathy and poikiloderma
- Familial spastic paraplegia, mental retardation, and precocious puberty
- Familial spinal osteochondrosis
- Familial spontaneous pneumothorax
- Familial streblodactyly
- Familial streblodactyly with amino-aciduria
- Familial susceptibility to breast-ovarian cancer 1
- Familial susceptibility to breast-ovarian cancer 2
- Familial symmetric lipomatosis
- Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions
- Familial syndrome of aniridia and absence of the patella
- Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism
- Familial syndrome of short stature, deformities of the hands and feet, and unusual facies
- Familial TAAD
- Familial temporal lobe epilepsy
- Familial Testotoxicosis (subtype)
- Familial tetralogy of fallot and glaucoma
- Familial thoracic aortic aneurysm
- Familial thoracic aortic aneurysm and aortic dissection
- Familial thoracic aortic aneurysm and dissection
- Familial thrombocytopenia with propensity to acute myelogenous leukemia
- Familial thyroglossal duct cyst
- Familial transient erythroblastopenia of childhood
- Familial transthyretin amyloidosis
- Familial trigeminal anesthesia
- Familial tumoral calcinosis
- Familial type IV hyperlipoproteinemia
- Familial ulnar aplasia and lobster claw syndrome
- Familial unilateral and bilateral occipital calcifications and epilepsy
- Familial vascular leukoencephalopathy
- Familial vasovagal syncope
- Familial ventricular tachycardia
- Familial vestibulopathy
- Familial visceral myopathy with external ophthalmoplegia
- Familial vocal cord dysfunction
- Familial Waldmann's disease (type)
- Familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency
- Familial Wilms tumor 2
- Familial woolly hair (autosomal recessive)
- Familial Xanthomatosis
- Familial X-linked 1 atypical mycobacteriosis
- Familiar chronic mucocutaneous candidiasis- not a rare disease.
- FAMMM syndrome- not a rare disease.
- FAMM-PC syndrome- not a rare disease.
- Fanconi anemia
- Fanconi Bickel syndrome
- Fanconi pancytopenia
- Fanconi syndrome
- Fanconi syndrome with intestinal malabsorption and galactose intolerance
- Fanconi's anemia
- Fantasy Island syndrome
- FAO deficiency
- FAP
- Fara Chlupackova syndrome
- Farber disease
- Farber lipogranulomatosis
- Farber's disease
- Farmer's lung
- FAS deficiency
- Fascioliasis
- FASD- not a rare disease.
- FASPS
- Fasting hypoglycemia- not a rare disease.
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease- not a rare disease.
- Fatal congenital hypertrophic cardiomyopathy due to glycogenosis- not a rare disease.
- Fatal congenital hypertrophic cardiomyopathy due to GSD- not a rare disease.
- Fatal familial insomnia
- Fatal infantile encephalomyopathy
- Fatal multiple mitochondrial dysfunction syndrome
- Fatal multiple mitochondrial dysfunctions syndrome
- Fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys
- Fatal neonatal hepatic steatosis
- Fatal pneumococcal Waterhouse-Friderichsen syndrome
- FATCO syndrome
- Fatty acid hydroxylase-associated neurodegeneration
- Fatty aldehyde dehydrogenase deficiency
- Fatty Liver with Encephalopathy
- Fatty metamorphosis of viscera
- FATWO
- FAv sequence
- FAVA
- Favre hyaloideoretinal degeneration
- Faye-Petersen-Ward-Carey syndrome
- FBD
- FBH
- FBH1
- FBH2
- FBH3
- FBHH
- FBHOk
- FBSN
- FBXL4 Deficiency
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
- FCAS
- FCDT
- FCH
- FCMD
- FCS syndrome
- FD
- FDD
- FDFM
- FDGC
- FDH
- Features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss
- Febrile infection-related epilepsy syndrome
- Febrile infection-related epilepsy syndrome
- Febrile mucocutaneous syndrome
- Febrile Ulceronecrotic Mucha-Habermann disease
- FECD- not a rare disease.
- Fechtner syndrome
- FED
- Feigenbaum Bergeron Richardson syndrome
- Feigenbaum Bergeron syndrome
- Feingold syndrome
- Feingold Trainer syndrome
- Fellman syndrome
- Felty syndrome
- Felty's syndrome
- Female adnexal tumor of probable Wolffian origin
- Female genital ducts in otherwise normal male
- Female Pseudo-Turner Syndrome
- Female restricted epilepsy with intellectual deficit
- Female-restricted X-linked syndromic intellectual disability-99
- Femoral dysgenesis, bilateral
- Femoral facial syndrome
- Femoral head epiphysiolysis- not a rare disease.
- Femoral hypoplasia unusual facies syndrome
- Femoral trochlear dysplasia
- Femur bifid with monodactylous ectrodactyly
- Femur fibula ulna syndrome
- FENIB
- Fenton Wilkinson Toselano syndrome
- FEO
- FEOM
- FEPS
- Ferguson-Smith type epithelioma
- Ferlini-Ragno-Calzolari syndrome
- Ferritin-related neurodegeneration
- Ferrocalcinosis, cerebrovascular
- Ferrochelatase deficiency
- Ferroportin disease
- Fertile eunuch syndrome
- FET1
- Fetal acitretin syndrome
- Fetal akinesia deformation sequence
- Fetal akinesia sequence
- Fetal akinesia syndrome X-linked
- Fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus
- Fetal Alcohol Spectrum Disorders- not a rare disease.
- Fetal Alcohol Syndrome (FAS) - type- not a rare disease.
- Fetal aminopterin syndrome
- Fetal and neonatal alloimmune thrombocytopenia
- Fetal anticoagulant syndrome
- Fetal brain disruption sequence
- Fetal cocaine syndrome
- Fetal cystic hygroma
- Fetal diethylstilbestrol syndrome
- Fetal edema
- Fetal effects of Chickenpox
- Fetal effects of varicella zoster virus
- Fetal enterovirus syndrome
- Fetal face syndrome
- Fetal hydantoin syndrome
- Fetal hypokinesia sequence due to restrictive dermopathy
- Fetal indomethacin syndrome
- Fetal iodine syndrome
- Fetal iritis syndrome
- Fetal left ventricular aneurysm
- Fetal macrosomia
- Fetal methimazole syndrome
- Fetal methotrexate syndrome
- Fetal methylmercury syndrome
- Fetal minoxidil syndrome
- Fetal ovarian cyst
- Fetal parainfluenza virus type 3 syndrome
- Fetal parvovirus syndrome
- Fetal phenothiazine syndrome
- Fetal retinoid syndrome
- Fetal thalidomide syndrome
- Fetal transfusion syndrome
- Fetal valproate syndrome
- Fetal valproic acid syndrome
- Fetal varicella infection
- Fetal varicella zoster syndrome
- Fetal warfarin syndrome
- Fetofetal transfusion syndrome
- Fever-induced refractory epileptic encephalopathy in school-aged children
- FEVR
- FFA
- FFDD type 2
- FFDD, type 1
- FFEVF
- FFND
- FFS
- FFU syndrome
- FG syndrome
- FG syndrome 2
- FG syndrome 3
- FG syndrome 4
- FGDY
- FGS
- FGS1
- FGS2
- FGS3
- FGS4
- FH III
- FH2
- FH3
- FHA
- FHBL
- FHCC
- FHD
- FHF
- FHH
- FHH type 1
- FHH1
- FHHNC
- FHI
- FHII
- FH-III
- FHL
- FHL2
- FHM
- FHM1
- FHM2
- FHM3
- FHS
- FHUFS
- Fiber-type disproportion myopathy, congenital
- FIBGC (formerly)
- Fibrillary astrocytoma (histologic variant)
- Fibrillary glomerulonephritis
- Fibrillary glomerulonephritis and immunotactoid glomerulopathy
- Fibrin stabilizing factor deficiency
- Fibrinogen deficiency, congenital
- Fibro adipose vascular anomaly
- Fibro-adipose vascular anomaly
- Fibrocartilaginous embolism
- Fibrochondrogenesis
- Fibrocystic pulmonary dysplasia
- Fibrodysplasia ossificans progressiva
- Fibrofolliculomas with trichodiscomas and acrochordons
- Fibrolamellar carcinoma
- Fibrolamellar hepatocarcinoma
- Fibrolamellar hepatocellular carcinoma
- Fibrolamellar oncocytic hepatoma
- Fibromatosis- not a rare disease.
- Fibromatosis gingival, hepatosplenomegaly other anomalies
- Fibromatosis gingival, hereditary, 1
- Fibromatosis gingival, hereditary, 2
- Fibromatosis gingival, hereditary, 3
- Fibromatosis gingival, hereditary, 4
- Fibromatosis multiple non ossifying
- Fibromatosis, familial infiltrative
- Fibromuscular dysplasia- not a rare disease.
- Fibromuscular dysplasia of arteries- not a rare disease.
- Fibronectin glomerulopathy
- Fibrosarcoma
- Fibrosing alveolitis
- Fibrosing alveolitis, cryptogenic
- Fibrosing mediastinitis
- Fibrosing serositis, familial
- Fibrous ankylosis of multiple joints
- Fibrous dysplasia
- Fibrous dysplasia of bone
- Fibula aplasia complex brachydactyly
- Fibula ulna duplication tibia radius absence
- Fibular aplasia ectrodactyly
- Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
- Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
- Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
- Fibular hemimelia
- Fibular hypoplasia and complex brachydactyly
- Fibular hypoplasia scapulo pelvic dysplasia absent
- Fibular longitudinal meromelia
- Fibulo ulnar hypoplasia renal anomalies
- Fibuloulnar aplasia or hypoplasia with renal abnormalities
- FIF
- Fifteen dorsal vertebrae and rib pairs
- Fifth digit syndrome
- Fifth Disease
- Fifth toe, double nails
- FIGD
- FIHP
- Filaminopathy (type)
- Filarial elephantiasis
- Filariasis
- Filippi syndrome
- FIM
- FIMG2 (formerly)
- Fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails
- Fine-Lubinsky syndrome
- Fingerprint body myopathy
- Finlay-Marks Syndrome
- Finnish congenital nephrosis
- Finnish lactic acidosis with hepatic hemosiderosis
- Finnish lethal neonatal metabolic syndrome
- Finucane Kurtz Scott syndrome
- FIPA
- FIRES
- First and second branchial arch syndrome
- Fish malodor syndrome
- Fish myxosporean parasites
- Fish odor syndrome
- Fish scale disease
- Fish scale disease, acquired
- Fish tank granuloma
- Fish-eye disease
- Fishman syndrome
- Fistulous vegetative verrucous hydradenoma
- Fitz-Hugh-Curtis syndrome
- Fitzsimmons syndrome
- Fitzsimmons syndrome
- Fitzsimmons Walson Mellor syndrome
- Fitzsimmons-Guilbert syndrome
- Fixation of the scapula to the first rib by a congenitally short costocoracoid ligament
- Fixed subaortic stenosis
- FJHN atypical
- FJHN type 2
- Flat umbilicus autosomal dominant
- Flat umbilicus familial
- Flaujeac factor deficiency
- Flavimonas oryzihabitans Bacteremia
- Flavimonas oryzihabitans infection
- FLD
- Flegel disease
- Flegel's disease
- Fleisher syndrome
- FL-HCC
- FLNMS
- Floating spleen
- Floating-Harbor syndrome
- Florid cemento-osseous dysplasia
- Florid cystic endosalpingiosis of the uterus
- florid osseous dysplasia
- Florid papillomatosis
- Florid papillomatosis of the nipple
- FLOTCH syndrome
- Fluid retention syndrome- not a rare disease.
- Flynn Aird syndrome
- Flynn-Aird syndrome
- FMD- not a rare disease.
- FMF
- FMR1-related premature ovarian failure
- FMR1-related primary ovarian insufficiency
- FN abnormality
- FND
- FND1
- FND3
- Foamy myocardial transformation of infancy
- Focal alopecia congenital megalencephaly
- focal cemento-osseous dysplasia
- Focal cortical dysplasia of Taylor
- Focal cortical dysplasia type 2
- Focal cortical dysplasia type II
- Focal dermal hypoplasia
- Focal dystonia- not a rare disease.
- Focal facial dermal dysplasia
- Focal facial dermal dysplasia type 2
- Focal lipid cardiomyopathy
- Focal or multifocal malformations in neuronal migration
- Focal palmoplantar and gingival keratoderma
- Focal palmoplantar and oral mucosa hyperkeratosis
- Focal palmoplantar keratoderma with sensorineural deafness (subtype)
- Focal sclerosis with hyalinosis
- Focal segmental glomerulosclerosis
- Focal task specific dystonia- not a rare disease.
- FODH
- Foix Chavany Marie syndrome
- Folate malabsorption, hereditary
- Folic acid transport defect
- Follicle-stimulating hormone deficiency, isolated
- Follicular atrophoderma and basal cell carcinomas
- Follicular atrophoderma-basal cell carcinoma syndrome
- Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome
- Follicular ichthyosis
- Follicular lichen planus
- Follicular lymphoma
- Follicular lymphoreticuloma
- Follicular thyroid cancer, Hurthle cell type
- Follicular thyroid carcinoma
- Folliculitis decalvans
- Folliculitis ulerythematosa
- Folliculitis ulerythematosa reticulata
- Folling disease
- Fong disease
- Fontaine Farriaux Blanckaert syndrome
- Foodborne botulism (subtype)
- FOP
- Forbes disease
- Forbes-Albright syndrome (formerly)
- Forelock
- Forestier disease- not a rare disease.
- Forestier-Rotes disease- not a rare disease.
- Formaldehyde poisoning
- Formaldehyde toxicity
- Formalin intoxication
- Formalin toxicity
- Formiminoglutamic acidemia
- Formiminoglutamicaciduria (FIGLU-uria)
- Formiminotransferase deficiency syndrome
- Forney Robinson Pascoe syndrome
- Forsius Eriksson type ocular albinism
- FOSMN syndrome
- Fountain syndrome
- Four corners hantavirus
- Fournier gangrene
- Fournier's gangrene
- Fourth phacomatosis
- Foveal dystrophy progressive
- Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts
- Foveal hypoplasia, presenile cataract
- Foveal retinoschisis
- Foveomacular dystrophy, adult-onset, with choroidal neovascularization
- Foveomacular dystrophy, adult-onset; AOFMD
- Fowl Paralyses
- Fowl Paralysis
- Fowler Christmas Chapple syndrome
- Fowler's syndrome
- FOXE3-related ocular disorder
- Fox-Fordyce disease
- Fox-Fordyce syndrome
- FOXG1 syndrome
- FOXG1-related disorder
- FOXN1 deficiency
- FOXP1 related global developmental delay, intellectual disability and speech defects
- FOXP1 syndrome
- FPAH
- FPC
- FPD/AML
- FPD/AML syndrome
- FPDMM
- FPF
- FPL2
- FPLD
- FPLD due to PLIN1 mutations
- FPLD1
- FPLD2
- FPLD3
- FPLD4
- FPLD5
- FPLD6
- FPO
- FPS/AML
- FPS/AML syndrome
- FRA
- Fra(X) syndrome
- Fraccaro achondrogenesis
- Fragile site, folic acid type
- Fragile X syndrome
- Fragile X syndrome type 1
- Fragile X syndrome type 2
- Fragile X syndrome type 3
- Fragile X-associated primary ovarian insufficiency
- Fragile XE syndrome
- Fragilitas oculi with joint hyperextensibility
- Fragilitas ossium
- FRAM
- Frambesia
- Frambesia tropica
- Franceschini Vardeu Guala syndrome
- Francisella tularensis infection
- Francois dyscephalic syndrome
- François dyscephalic syndrome
- Francois syndrome
- Franek-Bocker-Kahlen syndrome
- Frank Ter Haar syndrome
- Franklin disease
- Fraser Jequier Chen syndrome
- Fraser syndrome
- Fraser-Francois syndrome
- Frasier syndrome
- FRAXA syndrome
- FRAXD
- FRAXE syndrome
- FRDA
- Free sialic acid storage disease
- Freeman Sheldon syndrome
- Freeman Sheldon syndrome, variant
- Freeman Sheldon variant
- Freeman-Sheldon syndrome variant
- Freiberg-Kohler syndrome
- Freiberg's disease
- Freiberg's infraction
- Freire-Maia odontotrichomelic syndrome
- Freire-Maia Pinheiro Opitz syndrome
- Freire-Maia syndrome
- Frenga
- Frenkel Russe syndrome
- Frey syndrome
- Frey's syndrome
- FRHM
- Frias syndrome
- Friedman Goodman syndrome
- Friedman-Goodman syndrome
- Friedreich ataxia
- Friedreich-like ataxia
- Friedreich-like ataxia with selective vitamin E deficiency
- Friedreich's ataxia
- Frints De Smet Fabry Fryns syndrome
- FRNS
- Froehlich syndrome
- Froelich's adiposity
- Froelich's syndrome
- Frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia
- Frontal fibrosing alopecia
- Frontal fibrosing alopecia (subtype)
- Fronto nasal malformation cloacal exstrophy
- Fronto-facio-nasal dyplasia
- Frontofacionasal dysostosis
- Fronto-facio-nasal dysostosis
- Frontofacionasal dysplasia
- Frontometaphyseal dysplasia
- Frontonasal dysplasia
- FRONTONASAL DYSPLASIA 1
- Frontonasal dysplasia 3
- Frontonasal dysplasia acromelic
- Frontonasal dysplasia and dilated virchow-robin spaces
- Frontonasal dysplasia Klippel Feil syndrome
- Frontonasal dysplasia phocomelic upper limbs
- Frontonasal dysplasia type 1
- Frontonasal dysplasia type 2
- Frontonasal dysplasia type 3
- Frontonasal dysplasia with alar clefts
- Frontonasal dysplasia with alopecia and genital abnomality
- Frontonasal dysplasia with alopecia and genital anomaly
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- Frontorhiny
- Frontotemporal dementia
- Frontotemporal dementia with parkinsonism
- Frontotemporal dementia, ubiquitin-positive
- Frontotemporal lobe dementia (FLDEM)
- Froster-Huch syndrome
- Froster-Iskenius-Waterson syndrome
- Fructokinase deficiency- not a rare disease.
- Fructose 1,6 diphosphatase deficiency
- Fructose intolerance, hereditary
- Fructose-1,6-bisphosphatase deficiency
- Fructose-1,6-bisphosphate aldolase B deficiency
- Fructose-1-phosphate aldolase deficiency
- Frydman Cohen Ashkenazi syndrome
- Frydman Cohen Karmon syndrome
- Fryns anophthalmia syndrome
- Fryns Fabry Remans syndrome
- Fryns Hofkens Fabry syndrome
- Fryns microphthalmia syndrome
- Fryns smeets thiry syndrome
- Fryns syndrome
- Fryns-Aftimos syndrome
- FS
- FSGS
- FSHD
- FSHD1A
- FSHMD1A
- FSP
- FSP2
- FSP3
- FSS
- FTC
- FTD
- FTH1-related iron overload
- FTLE
- FTSD- not a rare disease.
- FTSS
- Fuchs atrophia gyrata chorioideae et retinae
- Fuchs endothelial corneal dystrophy- not a rare disease.
- Fuchs heterochromic cyclitis
- Fuchs heterochromic iridocyclitis
- Fuchs heterochromic uveitis
- Fucosidosis
- Fucosidosis type 1
- Fuhrmann syndrome
- Fukuda Miyanomae Nakata syndrome
- Fukuhara syndrome
- Fukuyama type muscular dystrophy
- Fulminating hyperpyrexia
- Fumarase deficiency
- Fumarate hydratase deficiency
- Fumaric aciduria
- Fumarylacetoacetase deficiency
- FUMHD
- Functional movement disorder
- Functional neurological disorder
- Functional seizures
- Functioning pancreatic endocrine tumor
- Fundus dystrophy, pseudoinflammatory recessive form
- Fundus dystrophy, pseudoinflammatory, of Sorsby
- Fuqua Berkovitz syndrome
- Furuncular myiasis
- Furunculous myiasis
- Fused incisors
- Fused legs and feet
- Fused mandibular incisors
- Fusion just distal to the proximal radial epiphysis in association with congenital dislocation of the radial head
- Fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)
- Fusospirillary gingivitis
- Fusospirillosis
- FVS
- FWT2
- FXS
NIH genetic and rare disease info[edit source]
List of rare diseases-F is a rare disease.
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