List of rare diseases-F

NIH genetic and rare disease info

• NIH info on List of rare diseases-F

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

• NIH info on List of rare diseases-F

List of rare diseases-F is a rare disease.