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

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

• F syndrome - See Acropectorovertebral dysplasia F form
• F. Oryzihabitans infection - See Flavimonas oryzihabitans infection
• F10 deficiency - See Factor X deficiency
• F11 deficiency - See Factor XI deficiency
• F12 deficiency - See Factor XII deficiency
• F2-Related Thrombophilia - See Prothrombin-related thrombophilia
• F7 deficiency - See Factor VII deficiency
• FAA4 - See Aortic aneurysm, familial thoracic 4
• Fabry disease
• Face blindness - See Developmental prosopagnosia
• FACES syndrome
• Facial arteriovenous malformation
• Facial clefting corpus callosum agenesis
• Facial cranial nerve paralysis - See Bell's palsy
• Facial dysmorphism - intellectual deficit - short stature - hearing loss - See Myhre syndrome
• Facial dysmorphism shawl scrotum joint laxity - See Seaver Cassidy syndrome
• Facial ectodermal dysplasia
• Facial features (unique), anorexia, cachexia, eye and skin anomalies - See FACES syndrome
• Facial infiltrating lipomatosis
• Facial nerve palsy - See Bell's palsy
• Facial nerve palsy due to herpes zoster infection - See Herpes zoster oticus
• Facial nerve palsy due to VZV - See Herpes zoster oticus
• Facial nerve paralysis due to VZV - See Herpes zoster oticus
• Facial onset sensorimotor neuronopathy syndrome - See Facial onset sensory and motor neuronopathy
• Facial onset sensory and motor neuronopathy
• Facial onset sensory and motor neuronopathy syndrome - See Facial onset sensory and motor neuronopathy
• Facial palsy - See Bell's palsy
• Facial paralysis - See Bell's palsy
• Facial paresis hereditary congenital - See Hereditary congenital facial paresis
• Facio digito genital syndrome recessive form
• Facio skeletal genital syndrome Rippberger type
• Facio thoraco genital syndrome
• Facioaudiosymphalangism syndrome - See Multiple synostoses syndrome 1
• Facioauriculovertebral dysplasia - See Goldenhar disease
• Facioauriculovertebral sequence - See Goldenhar disease
• Faciocardiomelic dysplasia lethal
• Faciocardiorenal syndrome
• Faciocutaneoskeletal syndrome - See Costello syndrome
• Faciodigitogenital syndrome - See Aarskog syndrome
• Faciogenital dysplasia - See Aarskog syndrome
• Faciogenitopopliteal syndrome - See Popliteal pterygium syndrome
• Faciomandibular myoclonus, nocturnal
• Faciooculoacousticorenal syndrome - See Donnai-Barrow syndrome
• Faciopalatoosseous syndrome - See Oto-palato-digital syndrome type 2
• Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation - See Foix Chavany Marie syndrome
• Facioscapulohumeral muscular dystrophy
• Facioscapulohumeral muscular dystrophy 1A - See Facioscapulohumeral muscular dystrophy
• Faciothoracoskeletal syndrome - See Camptodactyly syndrome Guadalajara type 1
• Factor 12 deficiency - See Factor XII deficiency
• Factor 7 deficiency - See Factor VII deficiency
• Factor 8 deficiency - See Hemophilia A
• Factor II deficiency - See Prothrombin deficiency
• Factor II-related thrombophilia - See Prothrombin-related thrombophilia
• Factor IX deficiency - See Hemophilia B
• Factor V deficiency
• Factor V Leiden thrombophilia - not a rare disease
• Factor V Quebec - See Quebec platelet disorder
• Factor VII deficiency
• Factor VIII deficiency - See Hemophilia A
• Factor X deficiency
• Factor X deficiency, congenital - See Factor X deficiency
• Factor XI deficiency
• Factor XII deficiency
• Factor XIII deficiency
• FAD - See Familial Alzheimer disease
• FADH deficiency - See Sjogren-Larsson syndrome
• FADS - See Fetal akinesia deformation sequence
• FAH deficiency - See Tyrosinemia type 1
• FAHN - See Fatty acid hydroxylase-associated neurodegeneration
• Fahr disease, familial (formerly) - See Primary Familial Brain Calcification
• Fahr's Syndrome (formerly) - See Primary Familial Brain Calcification
• Fairbank-Keats syndrome - See Osteoglophonic dysplasia
• Faisalabad histiocytosis - See Histiocytosis-lymphadenopathy plus syndrome
• FALDH deficiency - See Sjogren-Larsson syndrome
• Fallopian tube cancer
• Fallot complex with severe mental and growth retardation
• Fallot tetralogy - See Tetralogy of Fallot
• False bundle branch block syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
• Familiaere Cholesterin-Pneumonie - See Cholesterol pneumonia
• Familial absence of the patella - See Absent patella
• Familial acrogeria - See Acrogeria, Gottron type
• Familial acute necrotizing encephalopathy - See Infection-induced acute encephalopathy 3
• Familial adenomatous polyposis
• Familial adenomatous polyposis of the colon - See Familial adenomatous polyposis
• Familial adrenal adenoma - See Familial hyperaldosteronism type 2
• Familial advanced sleep phase syndrome - See Advanced sleep phase syndrome, familial
• Familial Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
• Familial Alzheimer disease - See Familial Alzheimer disease
• Familial Alzheimer disease
• Familial amniotic bands - See Amniotic band syndrome
• Familial amyloid nephropathy - See Amyloidosis familial visceral
• Familial amyloid polyneuropathy - See Familial transthyretin amyloidosis
• Familial amyloid polyneuropathy type IV - See Familial amyloidosis, Finnish type
• Familial amyloidosis - See Hereditary amyloidosis
• Familial amyloidosis, Finnish type
• Familial ankylosing vertebral hyperostosis with tylosis - See Ankylosing vertebral hyperostosis with tylosis
• Familial anomalous origin of right pulmonary artery - See Anomalous origin of right pulmonary artery familial
• Familial antiphospholipid syndrome - See Antiphospholipid syndrome
• Familial aortic aneurysm - See Familial thoracic aortic aneurysm and dissection
• Familial aortic dissection - See Familial thoracic aortic aneurysm and dissection
• Familial apatite disease - See Chondrocalcinosis due to apatite crystal deposition
• Familial aplasia of the patella (subtype) - See Absent patella
• Familial apoceruloplasmin deficiency - See Aceruloplasminemia
• Familial apple peel jejunal atresia - See Jejunal atresia
• Familial ARPA - See Anomalous origin of right pulmonary artery familial
• Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension
• Familial articular chondrocalcinosis - See Chondrocalcinosis 2
• Familial ataxia, deafness, and developmental delay - See Reardon Wilson Cavanagh syndrome
• Familial ataxia-hypogonadism syndrome - See Richards-Rundle syndrome
• Familial atrial fibrillation
• Familial Atypical Mole Melanoma Syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial atypical mole syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial atypical multiple mole melanoma-pancreatic carcinoma - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial auto-immune hemolytic anemia (subtype) - See Autoimmune hemolytic anemia
• Familial avascular necrosis of the femoral head
• Familial band heterotopia
• Familial benign copper deficiency - See Copper deficiency, familial benign
• Familial benign essential hematuria - See Thin basement membrane nephropathy - not a rare disease
• Familial benign hypercalcemia - See Familial hypocalciuric hypercalcemia
• Familial benign hypercalcemia type 1 - See Familial hypocalciuric hypercalcemia type 1
• Familial benign hypercalcemia, Oklahoma variant - See Familial hypocalciuric hypercalcemia type 3
• Familial benign hypercalcemia, type 2 - See Familial hypocalciuric hypercalcemia type 2
• Familial benign hypercalcemia, type 3 - See Familial hypocalciuric hypercalcemia type 3
• Familial benign hypocupremia - See Copper deficiency, familial benign
• Familial benign pemphigus - See Hailey-Hailey disease
• Familial benign recurrent vertigo - See Benign paroxysmal positional vertigo
• Familial bilateral optic nerve hypoplasia - See Optic nerve hypoplasia, familial bilateral
• Familial bilateral striatal necrosis
• Familial biparental hydatidiform mole - See Recurrent hydatidiform mole
• Familial brain cavernous angioma - See Familial cerebral cavernous malformation
• Familial brain cavernous hemangioma - See Familial cerebral cavernous malformation
• Familial breast cancer - not a rare disease
• Familial breast carcinoma - See Familial breast cancer - not a rare disease
• Familial British dementia - See Dementia familial British
• Familial cafe´-au-lait spots - See Multiple café-au-lait spots
• Familial Calcium pyrophosphate dihydrate deposition disease - See Chondrocalcinosis 2
• Familial candidiasis - See Familiar chronic mucocutaneous candidiasis - not a rare disease
• Familial capillaro-venous leptomeningeal angiomatosis
• Familial caudal dysgenesis
• Familial cerebral cavernoma - See Familial cerebral cavernous malformation
• Familial cerebral cavernous malformation
• Familial chloride diarrhea - See Congenital chloride diarrhea
• Familial chronic mucocutaneous candidiasis - See Candidiasis familial chronic mucocutaneous, autosomal recessive
• FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT - See Candidiasis familial chronic mucocutaneous, autosomal dominant
• Familial Clark nevus syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial cold autoinflammatory syndrome
• Familial cold urticaria - See Familial cold autoinflammatory syndrome
• Familial colorectal cancer
• Familial congenital controlateral synkinesia - See Congenital mirror movement disorder
• Familial congenital cornea guttata with anterior polar cataracts (type) - See Cornea guttata with anterior polar cataract
• Familial congenital hypopituitarism - See Combined pituitary hormone deficiencies, genetic forms
• Familial congenital mirror movements - See Congenital mirror movement disorder
• Familial congenital moderate neural hearing loss - See Conductive deafness with malformed external ear
• Familial congenital muscular dystrophy with gonadal dysgenesis - See Muscular dystrophy, congenital, infantile with cataract and hypogonadism
• Familial congenital palsy of trochlear nerve
• Familial continuous skin peeling - See Peeling skin syndrome
• Familial continuous skin peeling syndrome - See Peeling skin syndrome
• Familial cutaneous collagenoma
• Familial cyclic vomiting syndrome (subtype) - See Cyclic vomiting syndrome - not a rare disease
• Familial cylindromatosis
• Familial Danish dementia - See Dementia, familial Danish
• Familial deafness
• Familial defective apolipoprotein B-100 - See Autosomal dominant type B hypercholesterolemia - not a rare disease
• Familial dementia, British type - See Dementia familial British
• Familial dermatofibrosarcoma protuberans (subtype) - See Dermatofibrosarcoma protuberans
• Familial dermatographism - See Familial dermographism
• Familial dermographism
• Familial diffuse cancer of stomach - See Hereditary diffuse gastric cancer
• Familial diffuse gastric cancer - See Hereditary diffuse gastric cancer
• Familial dilated cardiomyopathy
• Familial dilated cardiomyopathy associated with cataracts and hip-spine disease - See Cardiomyopathy cataract hip spine disease
• Familial Dupuytren contracture - not a rare disease
• Familial dwarfism and painful muscle spasms - See Dwarfism familial with muscle spasms
• Familial dysautonomia
• Familial dysautonomia, type 2 - See Congenital insensitivity to pain with anhidrosis
• Familial dysautonomia, type II - See Congenital insensitivity to pain with anhidrosis
• Familial dysbetalipoproteinemia - See Hyperlipidemia type 3
• Familial dyschondroplasia - See Upington disease
• Familial dysfibrinogenemia - See Dysfibrinogenemia
• Familial dyskinesia and facial myokymia - See ADCY5-related dyskinesia
• Familial dysplastic nevus syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• Familial ectodermal dysplasia with sensori-neural deafness and other anomalies - See Autosomal dominant deafness-onychodystrophy syndrome
• Familial ectopia lentis - See Isolated ectopia lentis
• Familial ectopic ossification - See Progressive osseous heteroplasia
• Familial ectopic pupil - See Ectopia pupillae
• Familial encephalopathy with neuroserpin inclusion bodies
• Familial enteropathy, microvillus - See Microvillus inclusion disease
• Familial eosinophilia
• Familial epilepsy and mental retardation limited to females - See PCDH19-related female-limited epilepsy
• Familial episodic pain syndrome
• Familial erythema nodosum
• Familial erythrocytosis - See Primary familial and congenital polycythemia
• Familial erythrocytosis 1 - See Primary familial and congenital polycythemia
• Familial erythrocytosis type 1 - See Primary familial and congenital polycythemia
• Familial erythrophagocytic lymphohistiocytosis - See Familial hemophagocytic lymphohistiocytosis
• Familial essential tremor - See Essential tremor - not a rare disease
• Familial expansile osteolysis - See Polyostotic osteolytic dysplasia, hereditary expansile
• Familial exudative vitreoretinopathy
• Familial fatal insomnia - See Fatal familial insomnia
• Familial fat-induced hypertriglyceridemia - See Familial lipoprotein lipase deficiency
• Familial Felty's syndrome - See Felty's syndrome
• Familial focal epilepsy with variable foci
• Familial foveal retinoschisis - See Retinoschisis of Fovea
• Familial gingival fibromatosis associated with progressive deafness - See Jones syndrome
• Familial glucocorticoid deficiency
• Familial hand abnormality and sensori-neural deafness - See Arthrogryposis-like hand anomaly and sensorineural deafness
• Familial HCM - See Familial hypertrophic cardiomyopathy
• Familial HDL deficiency
• Familial hematuric nephritis - See Thin basement membrane nephropathy - 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 - See Familial hemiplegic migraine type 2
• Familial hemophagocytic lymphohistiocytosis
• Familial hibernation syndrome - See Kleine Levin syndrome
• Familial Hibernian fever - See Tumor necrosis factor receptor-associated periodic syndrome
• Familial high density lipoprotein deficiency disease - See Tangier disease
• Familial Hirschsprung's disease and type D brachydactyly - See Hirschsprung disease type d brachydactyly
• Familial histiocytic reticulosis - See Familial hemophagocytic lymphohistiocytosis
• Familial HLH - See Familial hemophagocytic lymphohistiocytosis
• Familial hydroa vacciniforme - See Hydroa vacciniforme, familial
• Familial hydrocephalus with a low-insertion umbilicus - See Palmer Pagon syndrome
• Familial hyperaldosteronism type 1 - See Glucocorticoid-remediable aldosteronism
• Familial hyperaldosteronism type 2
• Familial hyperaldosteronism type 3 - See Familial hyperaldosteronism type III
• Familial hyperaldosteronism type II - See Familial hyperaldosteronism type 2
• Familial hyperaldosteronism type III
• Familial hypercholesterolemia - not a rare disease
• Familial hypercholesterolemia due to ligand-defective - See Autosomal dominant type B hypercholesterolemia - not a rare disease
• Familial hypercholesterolemic xanthomatosis - See Familial hypercholesterolemia - not a rare disease
• Familial hyperchylomicronemia - See Familial lipoprotein lipase deficiency
• Familial hyperestrogenism - See Aromatase excess syndrome
• Familial hyperinsulinism - See Congenital 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 - See Tangier disease
• Familial hypobetalipoproteinemia
• Familial hypocalciuric hypercalcemia
• Familial hypocalciuric hypercalcemia type 1
• Familial hypocalciuric hypercalcemia type 2
• Familial hypocalciuric hypercalcemia type 3
• Familial hypogonadotropic eunuchoidism - See Eunuchoidism familial hypogonadotropic
• Familial hypokalemia-hypomagnesemia - See Gitelman syndrome
• Familial hypopituitarism
• Familial hypotransferrinemia - See Atransferrinemia
• Familial idiopathic basal ganglia calcification (formerly) - See Primary Familial Brain Calcification
• Familial idiopathic nephrotic syndrome - See Nephrotic syndrome, idiopathic, steroid-resistant
• Familial idiopathic nephrotic syndrome - See Focal segmental glomerulosclerosis
• Familial idiopathic priapism - See Priapism
• Familial idiopathic pulmonary fibrosis - See Idiopathic pulmonary fibrosis
• Familial idiopathic steroid-resistant nephrotic syndrome - See Focal segmental glomerulosclerosis
• Familial idiopathic steroid-resistant nephrotic syndrome - See Nephrotic syndrome, idiopathic, steroid-resistant
• Familial incomplete male pseudohermaphroditism, type 2 - See 5-alpha reductase deficiency
• Familial infantile hypoglycemia precipitated by leucine - See Leucine-sensitive hypoglycemia of infancy
• Familial infantile nephrotic syndrome with ocular abnormalities - See Nephrotic syndrome ocular anomalies
• Familial infiltrative fibromatosis - See Desmoid tumor
• Familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps - See Acanthosis nigricans muscle cramps acral enlargement
• Familial interstitial fibrosis
• Familial intestinal polyatresia syndrome - See Intestinal atresia multiple
• Familial intestinal polyposis - See Familial adenomatous polyposis
• Familial intrahepatic cholestasis of pregnancy - See Intrahepatic cholestasis of pregnancy
• Familial isolated deficiency of vitamin E - See Ataxia with vitamin E deficiency
• Familial isolated hyperparathyroidism
• Familial isolated pituitary adenoma
• Familial isolated pituitary adenoma syndrome - See Familial isolated pituitary adenoma
• Familial isolated vitamin E deficiency - See Ataxia with vitamin E deficiency
• Familial joint instability syndrome - See Familial joint instability syndrome
• Familial joint instability syndrome
• Familial Juvenile Hyperuricemic Nephropathy 1 - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Familial juvenile hyperuricemic nephropathy type 2 - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• Familial Kleine-Levin syndrome - See Kleine Levin syndrome
• Familial koilonychia - See Hereditary koilonychia
• Familial LCAT deficiency
• Familial leiomyomatosis - See Hereditary leiomyomatosis and renal cell cancer
• Familial Lenègre disease - See Familial progressive cardiac conduction defect
• Familial Lev disease - See Familial progressive cardiac conduction defect
• Familial Lev-Lenègre disease - See Familial progressive cardiac conduction defect
• Familial ligand-defective apolipoprotein B-100 - See Autosomal dominant type B hypercholesterolemia - not a rare disease
• Familial lipomyelomeningocele - See Lipomyelomeningocele
• Familial lipoprotein lipase deficiency
• Familial LPL deficiency - See Familial lipoprotein lipase deficiency
• Familial Marcus Gunn phenomenon (subtype) - See Marcus Gunn phenomenon
• Familial Mediterranean fever
• Familial megaloblastic anemia - See Imerslund-Grasbeck syndrome
• Familial mesangial sclerosis - See Diffuse mesangial sclerosis
• Familial microtia and meatal atresia - See Microtia, meatal atresia and conductive deafness
• Familial microtia with meatal atresia and conductive deafness - See Microtia, meatal atresia and conductive deafness
• Familial middle ear ossicular anomalies - See Ossicular Malformations, familial
• Familial mixed cryoglobulinemia
• Familial multiple lipomatosis
• Familial multiple polyposis - See Familial adenomatous polyposis
• Familial multiple trichodiscomas
• Familial multiple trichoepithelioma - See Multiple familial trichoepithelioma
• Familial nasal acilia
• Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome - See Daentl Towsend Siegel syndrome
• Familial neurocardiogenic syncope
• Familial non-immune hydrops fetalis - See Hydrops fetalis
• Familial non-immune hyperthyroidism - See Familial hyperthyroidism due to mutations in TSH receptor
• Familial nonmedullary thyroid cancer, papillary - See Papillary thyroid carcinoma
• Familial nonpolyposis colon cancer - See Lynch syndrome - not a rare disease
• Familial nonsyndromal Mondini dysplasia (subtype) - See Mondini dysplasia
• Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity - See FLOTCH syndrome
• Familial ocular anterior segment mesenchymal dysgenesis - See Anterior segment dysgenesis
• Familial opticoacoustic nerve degeneration and polyneuropathy - See Charcot-Marie-Tooth disease
• Familial orthostatic tachycardia due to norepinephrine transporter deficiency - See Orthostatic intolerance due to NET deficiency
• Familial ossicular malformations - See Ossicular Malformations, familial
• Familial osteochondritis dissecans
• Familial osteonecrosis of the femoral head - See Familial avascular necrosis of the femoral head
• Familial oto-facio-cervical dysmorphia - See Fara Chlupackova syndrome
• Familial Paget disease of bone - See Paget disease of bone, familial
• Familial PAH, leucopenia and ASD - See Familial pulmonary arterial hypertension leucopenia and atrial septal defect
• Familial pancreatic cancer
• Familial pancreatic carcinoma - See Familial pancreatic cancer
• Familial paroxysmal kinesigenic dyskinesia - See Paroxysmal kinesigenic choreoathetosis
• Familial paroxysmal polyserositis - See Familial Mediterranean fever
• Familial partial epilepsy with variable foci - See Familial focal epilepsy with variable foci
• Familial partial lipodystrophy
• Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
• Familial partial lipodystrophy associated with PPARG mutations
• Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
• Familial partial lipodystrophy type 1 - See Familial partial lipodystrophy type Köbberling
• Familial partial lipodystrophy type 2
• Familial partial lipodystrophy type 3 - See Familial partial lipodystrophy associated with PPARG mutations
• Familial partial lipodystrophy type 4 - See Familial partial lipodystrophy
• Familial partial lipodystrophy type Köbberling
• Familial partial lipodystrophy, Dunnigan type - See Familial partial lipodystrophy type 2
• Familial partial lipodystrophy, Köbberling type - See Familial partial lipodystrophy type Köbberling
• Familial partial paralysis
• Familial PCCD - See Familial progressive cardiac conduction defect
• Familial periodic paralysis
• Familial persistent pulmonary hypertension of the newborn - See Alveolar capillary dysplasia
• Familial pheochromocytoma-paraganglioma - See Hereditary paraganglioma-pheochromocytoma
• Familial pigmented purpuric eruption - See Pigmented purpuric dermatosis
• Familial PKD - See Paroxysmal kinesigenic choreoathetosis
• Familial platelet disorder with associated myeloid malignancy
• Familial platelet disorder with predisposition to acute myelogenous leukemia - See Familial platelet disorder with associated myeloid malignancy
• Familial platelet disorder with predisposition to myeloid malignancy - See Familial platelet disorder with associated myeloid malignancy
• Familial platelet disorder with propensity to acute myeloid leukemia - See Familial platelet disorder with associated myeloid malignancy
• Familial platelet syndrome with predisposition to acute myelogenous leukemia - See Familial platelet disorder with associated myeloid malignancy
• Familial polymorphic ventricular tachycardia - See Catecholaminergic polymorphic ventricular tachycardia
• Familial polymorphous cold eruption - See Familial cold autoinflammatory syndrome
• Familial polyposis of the colon - See Familial adenomatous polyposis
• Familial porencephalic white matter disease - See Familial porencephaly
• Familial porencephaly
• Familial precocious puberty - See Precocious puberty
• Familial premature ovarian failure - See FMR1-related primary ovarian insufficiency
• Familial primary biliary cirrhosis - See Primary biliary cholangitis
• Familial primary gastric lymphoma - See Gastric lymphoma
• Familial primary hyperparathyroidism - See Familial isolated hyperparathyroidism
• Familial primary hyperparathyroidism with multiple ossifying jaw fibromas - See Hyperparathyroidism-jaw tumor syndrome
• Familial primary hypomagnesemia
• Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
• Familial progressive cardiac conduction defect
• Familial progressive heart block - See Familial progressive cardiac conduction defect
• Familial progressive myoclonic epilepsy - See Progressive myoclonic epilepsy
• Familial progressive supranuclear palsy (type) - See Progressive supranuclear palsy
• Familial progressive vestibulocochlear dysfunction - See Vestibulocochlear dysfunction, progressive
• Familial prostate cancer
• Familial pulmonary arterial hypertension - See Pulmonary arterial hypertension
• Familial pulmonary arterial hypertension leucopenia and atrial septal defect
• Familial pulmonary arterial hypertension, leucopenia and ASD - See Familial pulmonary arterial hypertension leucopenia and atrial septal defect
• Familial pulmonary capillary hemangiomatosis - See Hemangiomatosis, familial pulmonary capillary
• Familial pyrimidinemia - See Dihydropyrimidine dehydrogenase deficiency - not a rare disease
• Familial reactive perforating collagenosis
• Familial rectal pain - See Paroxysmal extreme pain disorder
• Familial rectal syndrome - See Paroxysmal extreme pain disorder
• Familial recurrent arthritis - See Pyogenic arthritis, pyoderma gangrenosum and acne
• Familial recurrent hydatidiform mole - See Recurrent hydatidiform mole
• Familial recurrent intrahepatic cholestasis of pregnancy - See Intrahepatic cholestasis of pregnancy
• Familial remitting chorea, nystagmus and cataracts - See Chorea, remitting with nystagmus and cataracts
• Familial renal amyloidosis - See Amyloidosis familial visceral
• Familial reticulate acropigmentation of Dohi - See Dyschromatosis symmetrica hereditaria 1
• Familial retinal arterial macroaneurysm - See Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Familial rhizomelic dysplasia - See Rhizomelic syndrome
• Familial scaphocephaly syndrome, McGillivray type - See McGillivray syndrome
• Familial Scheuermann disease - See Scheuermann disease
• Familial Scheuermann juvenile kyphosis - See Scheuermann disease
• Familial short stature with facial dysmorphism and osteochondrodysplastic lesions - See Short stature syndrome, Brussels type
• Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails - See Zori Stalker Williams syndrome
• Familial sick sinus syndrome
• Familial sinus node dysfunction - See Familial sick sinus syndrome
• Familial spastic paraparesis - See Hereditary spastic paraplegia
• Familial spastic paraparesis and deafness - See Wells-Jankovic syndrome
• Familial spastic paraplegia - See Hereditary spastic paraplegia
• Familial spastic paraplegia autosomal dominant 2 - See Spastic paraplegia 4
• Familial spastic paraplegia autosomal dominant 3 - See Spastic paraplegia 6
• Familial spastic paraplegia with neuropathy and poikiloderma - See Spastic paraplegia neuropathy poikiloderma
• Familial spastic paraplegia, mental retardation, and precocious puberty - See Spastic paraplegia with precocious puberty
• Familial spinal osteochondrosis - See Scheuermann disease
• Familial spontaneous pneumothorax - See Primary spontaneous pneumothorax
• Familial streblodactyly
• Familial streblodactyly with amino-aciduria - See Camptodactyly taurinuria
• Familial susceptibility to breast-ovarian cancer 1 - See BRCA1 hereditary breast and ovarian cancer syndrome
• Familial susceptibility to breast-ovarian cancer 2 - See BRCA2 hereditary breast and ovarian cancer syndrome
• Familial symmetric lipomatosis - See Multiple symmetric lipomatosis
• Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions - See Boudhina Yedes Khiari syndrome
• 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 transient erythroblastopenia of childhood - See Transient erythroblastopenia of childhood
• Familial transthyretin amyloidosis
• Familial trigeminal anesthesia - See Corneal hypesthesia, familial
• Familial tumoral calcinosis
• 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 - See White 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
• Familiar chronic mucocutaneous candidiasis - not a rare disease
• 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 renotubular syndrome - See Fanconi syndrome
• 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 congenital hypertrophic cardiomyopathy due to glycogen storage disease - See Lethal congenital glycogen storage disease of the heart - not a rare disease
• Fatal congenital hypertrophic cardiomyopathy due to glycogenosis - See Lethal congenital glycogen storage disease of the heart - not a rare disease
• Fatal congenital hypertrophic cardiomyopathy due to GSD - See Lethal congenital glycogen storage disease of the heart - 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
• 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 - See Craniofacial deafness hand syndrome
• Febrile infection-related epilepsy syndrome - See Febrile infection-related epilepsy syndrome
• 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 head epiphysiolysis - See Slipped capital femoral epiphysis - not a rare disease
• 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
• 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 - See Microphthalmia 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
• FHCC - See Fibrolamellar carcinoma
• 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 Familial 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 hepatocarcinoma - See 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
• Fixed subaortic stenosis - See Subvalvular aortic stenosis
• FJHN atypical - See Maturity-onset diabetes of the young
• FJHN type 2 - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• 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 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 - See Familial platelet disorder with associated myeloid malignancy
• FPD/AML syndrome - See Familial platelet disorder with associated myeloid malignancy
• FPDMM - 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 - See Familial platelet disorder with associated myeloid malignancy
• 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
• François 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
• 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 - See Akaba 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
• Fructokinase deficiency - See Essential fructosuria - not a rare disease
• 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
• 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
• 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