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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With F

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* F syndrome - See Acropectorovertebral dysplasia F form
* F. Oryzihabitans infection - See Flavimonas oryzihabitans infection
* F10 deficiency - See Factor X deficiency
* F11 deficiency - See Plasma thromboplastin antecedent deficiency
* F12 deficiency - See Factor XII deficiency
* F7 deficiency - See Factor VII deficiency
* FAA4 - See Aortic aneurysm, familial thoracic 4
* Fabry disease
* Face blindness - See Prosopagnosia, hereditary
* FACES syndrome
* Facial asymetry temporal seizures
* Facial clefting corpus callosum agenesis
* Facial clefting syndrome Gypsy type - See Malpuech facial clefting syndrome
* Facial cranial nerve paralysis - See Bell's palsy
* Facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation - See Morillo-Cucci-Passarge syndrome
* Facial dysmorphism - intellectual deficit - short stature - hearing loss - See Myhre syndrome
* Facial dysmorphism macrocephaly myopia Dandy Walker type - See Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy
* 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 nerve palsy - See Bell's palsy
* 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
* Facies unusual arthrogryposis advanced skeletal malformations
* Facio digito genital syndrome recessive form
* Facio skeletal genital syndrome Rippberger type
* Facio thoraco genital syndrome
* Facioaudiosymphalangism syndrome - See Multiple synostoses syndrome 1
* Facioauriculoradial dysplasia - See Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia
* 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 2 deficiency
* Factor 7 deficiency - See Factor VII deficiency
* Factor 8 deficiency, acquired - See Hemophilia A, acquired
* Factor 8 deficiency, congenital - See Hemophilia A, congenital
* Factor II-related thrombophilia - See Prothrombin thrombophilia
* Factor IX deficiency - See Hemophilia B
* Factor V deficiency
*   Factor V Leiden thrombophilia
* Factor V Quebec - See Quebec platelet disorder
* Factor VII deficiency
* Factor VIII deficiency, acquired - See Hemophilia A, acquired
* Factor VIII deficiency, congenital - See Hemophilia A, congenital
* Factor X deficiency
* Factor X deficiency, congenital - See Factor X deficiency
* Factor XI deficiency - See Plasma thromboplastin antecedent deficiency
* Factor XI deficiency, congenital
* Factor XII deficiency
* Factor XIII deficiency
* FAD - See Alzheimer disease familial
* 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 Familial idiopathic basal ganglia calcification
* Fairbank disease
* Fairbank multiple epiphyseal dysplasia - See Fairbank disease
* Fairbank-Keats syndrome - See Osteoglophonic dysplasia
* Faisalabad histiocytosis - See Histiocytosis with joint contractures and sensorineural deafness
* 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
* Familiaere Cholesterin-Pneumonie - See Cholesterol pneumonia
* Familial absence of the patella - See Absent patella
* Familial acrogeria - See Acrogeria, Gottron type
* 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 Alzheimer disease familial
* Familial amniotic bands - See Amniotic band syndrome
* 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 Beardwell syndrome
* 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 - See Atrial fibrillation familial
*   Familial atypical mole-malignant melanoma syndrome - See Atypical mole syndrome
* 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
* 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 breast cancer
* Familial British dementia - See Dementia familial British
* Familial cafe´-au-lait spots - See Neurofibromatosis type 6
* Familial capillaro-venous leptomeningeal angiomatosis
* Familial caudal dysgenesis - See Rudd Klimek syndrome
* Familial chloride diarrhea - See Congenital chloride diarrhea
* Familial chronic mucocutaneous candidiasis - See Candidiasis familial chronic mucocutaneous, autosomal recessive
* Familial chylomicronemia - See Hyperlipoproteinemia type 1
* Familial cold autoinflammatory syndrome
* Familial cold urticaria - See Familial cold autoinflammatory syndrome
* Familial colorectal cancer
* Familial congenital cornea guttata with anterior polar cataracts (type) - See Cornea guttata with anterior polar cataract
* Familial congenital fourth cranial nerve palsy
* 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 continuous skin peeling - See Peeling skin syndrome
* Familial Cushing's syndrome - See Cushing syndrome, familial
* Familial cyclic vomiting syndrome (subtype) - See Cyclic vomiting syndrome
* Familial cylindromatosis
* Familial Danish dementia - See Dementia, familial Danish
* Familial deafness
* Familial dermatofibrosarcoma protuberans (subtype) - See Dermatofibrosarcoma protuberans
* Familial dermatographism - See Familial dermographism
* Familial dermographism
* Familial dilated cardiomyopathy
* Familial dilated cardiomyopathy associated with cataracts and hip-spine disease - See Cardiomyopathy cataract hip spine 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 dysbetalipoproteinemia - See Hyperlipidemia type 3
* Familial dyschondroplasia - See Upington disease
* Familial ectodermal dysplasia with sensori-neural deafness and other anomalies - See Robinson Miller Bensimon 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 erythema nodosum
* Familial erythrocytosis, 1
* Familial erythrophagocytic lymphohistiocytosis - See Hemophagocytic lymphohistiocytosis
* Familial esophageal achalasia - See Achalasia, familial esophageal
*   Familial essential tremor - See Essential tremor
* Familial expansile osteolysis - See Polyostotic osteolytic dysplasia, hereditary expansile
* Familial exudative vitreoretinopathy
* Familial fatal insomnia - See Fatal familial insomnia
* Familial Felty's syndrome - See Felty's syndrome
* Familial foveal retinoschisis - See Retinoschisis of Fovea
* Familial gingival fibromatosis associated with progressive deafness - See Jones syndrome
* Familial glucocorticoid deficiency
* Familial gynecomastia, due to increased aromatase activity - See Aromatase deficiency
* Familial hand abnormality and sensori-neural deafness - See Arthrogryposis-like hand anomaly and sensorineural deafness
* Familial HDL deficiency
*   Familial hematuric nephritis - See Thin basement membrane nephropathy
* Familial hemiplegic migraine
* Familial hemiplegic migraine type 1
* Familial hemiplegic migraine type 2
* Familial hemiplegic migraine type 3
* Familial hemophagocytic lymphohistiocytosis - See Hemophagocytic lymphohistiocytosis
* Familial hibernation syndrome - See Kleine Levin syndrome
* Familial Hibernian fever - See Periodic fever, familial, autosomal dominant
* 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 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 II - See Familial hyperaldosteronism type 2
*   Familial hypercholesterolemia
* Familial hyperinsulinism
* Familial hyperlipo-proteinemia type 1
* Familial hypersecretion of adrenal androgens
* Familial hypersensitivity pneumonitis
*   Familial hypertension
* 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 hypomagnesemia - hypercalciuria - See Manz syndrome
* Familial hypopituitarism
* Familial hypothyroidism
* Familial hypotransferrinemia - See Atransferrinemia
* Familial idiopathic basal ganglia calcification
* Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects - See Reginato Shiapachasse syndrome
* Familial idiopathic priapism - See Priapism
* Familial idiopathic pulmonary fibrosis - See Idiopathic pulmonary fibrosis
* 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 disease, hereditary
* Familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps - See Acanthosis nigricans muscle cramps acral enlargement
* Familial interstitial fibrosis
* Familial intestinal neurofibromatosis - See Neurofibromatosis type 3B
* 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 joint instability syndrome - See Joint laxity, familial
* Familial juvenile gouty nephropathy - See Gouty nephropathy, familial
* Familial juvenile hyperuricaemic nephropathy
* Familial juvenile hyperuricemic nephropathy - See Gouty nephropathy, familial
* Familial Kleine-Levin syndrome - See Kleine Levin syndrome
* Familial koilonychia - See Hereditary koilonychia
* 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 limb deficiency - See Hoon Hall syndrome
* Familial lipomyelomeningocele - See Lipomyelomeningocele
* 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 multiple polyposis - See Familial adenomatous polyposis
* Familial multiple trichodiscomas
* Familial myelofibrosis
* Familial nasal acilia
* Familial nephropathy associated with hyperuricemia - See Gouty nephropathy, familial
* Familial nephropathy with gout - See Gouty nephropathy, familial
* 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
* 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 opposable triphalangeal thumbs associated with duplication of the big toes - See Merlob Grunebaum Reisner syndrome
* Familial opposable triphalangeal thumbs duplication
* Familial opticoacoustic nerve degeneration and polyneuropathy - See X-linked Charcot-Marie-Tooth disease type 5
* Familial ossicular malformations - See Ossicular Malformations, familial
* 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 carcinoma - See Pancreatic carcinoma, familial
* Familial paroxysmal choreoathetosis - See Dystonia 8
* Familial paroxysmal dystonia - See Dystonia 10
* Familial paroxysmal polyserositis - See Familial Mediterranean fever
* Familial pars planitis (subtype) - See Pars planitis
* Familial partial lipodystrophy
* Familial partial paralysis
* Familial PCCD - See Familial progressive cardiac conduction defect
* Familial pemphigus vulgaris - See Pemphigus vulgaris, familial
* 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 eruption
* Familial pityriasis rubra pilaris - See Pityriasis rubra pilaris
* 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 posterior lumbosacral vertebral fusion and eyelid ptosis - See Vertebral fusion posterior lumbosacral blepharoptosis
* Familial precocious puberty - See Precocious puberty
* Familial premature ovarian failure - See Premature ovarian failure, familial
* Familial primary biliary cirrhosis - See Primary biliary cirrhosis
* Familial primary gastric lymphoma - See Gastric lymphoma
* Familial primary hyperparathyroidism with multiple ossifying jaw fibromas - See Hyperparathyroidism-jaw tumor syndrome
* 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
* Familial recurrent arthritis - See Pyogenic arthritis, pyoderma gangrenosum and acne
* 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 carcinoma - See Familial renal cell carcinoma
* Familial renal cell carcinoma
* Familial reticulate acropigmentation of Dohi - See Dyschromatosis symmetrica hereditaria 1
* Familial rhizomelic dysplasia - See Rhizomelic syndrome
* Familial schizencephaly - See Schizencephaly
* 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 spasmodic torticollis - See Torticollis, familial
* Familial spastic paraparesis - See Hereditary spastic paraplegia
* Familial spastic paraparesis and deafness - See Wells-Jankovic syndrome
* 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 stomach cancer - See Stomach cancer, familial
* Familial stomach carcinoma - See Stomach cancer, familial
* Familial streblodactyly
* Familial symmetric lipomatosis - See Madelung disease
* Familial syndesmodysplasic dwarfism - See Laplane Fontaine Lagardere syndrome
* 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 with peculiar facies and mental retardation
* 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 dissection
* Familial thrombocytopenia with propensity to acute myelogenous leukemia - See Familial platelet disorder with associated myeloid malignancy
* Familial thyroglossal duct cyst - See Thyroglossal tract cyst
* Familial torticollis - See Torticollis, familial
* Familial transient erythroblastopenia of childhood - See Transient erythroblastopenia of childhood
* Familial transthyretin amyloidosis
* Familial Treacher Collins syndrome
* Familial trigeminal anesthesia - See Corneal hypesthesia, familial
* Familial tumoral calcinosis
* Familial tylosis (subtype) - See Tylosis
* Familial type IV hyperlipoproteinemia - See Hyperlipoproteinemia type 4
* Familial ulnar aplasia and lobster claw syndrome - See Ulnar hypoplasia lobster claw deformity of feet
* Familial unilateral and bilateral occipital calcifications and epilepsy - See Epilepsy occipital calcifications
* Familial vascular leukoencephalopathy - See CADASIL
* Familial vasovagal syncope - See Familial neurocardiogenic syncope
* Familial ventricular tachycardia
* Familial vestibulopathy - See Benign paroxysmal positional vertigo
* Familial visceral myopathy with external ophthalmoplegia
* Familial vocal cord dysfunction - See Vocal cord dysfunction familial
* Familial Waldmann's disease (type) - See Waldmann disease
* Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency - See White matter hypoplasia, corpus callosum agenesia, and mental retardation
* Familial Wilms tumor 2
* Familial woolly hair (autosomal recessive) - See Woolly hair syndrome
* Familial Xanthomatosis - See Wolman disease
* Fanconi anemia
* Fanconi Bickel syndrome
* Fanconi ichthyosis dysmorphism
* Fanconi like syndrome
* Fanconi pancytopenia - See Fanconi anemia
* Fanconi renotubular syndrome
* Fanconi syndrome caused by degraded tetracycline - See Preeyasombat Varavithya syndrome
* Fanconi syndrome with intestinal malabsorption and galactose intolerance - See Fanconi Bickel syndrome
* Fanconi syndrome without cystinosis - See Fanconi renotubular syndrome
* Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhea - See Deal Barratt Dillon 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
* FASPS - See Advanced sleep phase syndrome, familial
*   Fasting hypoglycemia
* Fatal familial insomnia
* Fatal infantile encephalomyopathy
* Fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys - See Siegler Brewer Carey syndrome
* Fatal neonatal hepatic steatosis - See Visceral steatosis
* Fatal pneumococcal Waterhouse-Friderichsen syndrome - See Waterhouse–Friderichsen syndrome
* FATCO syndrome - See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
* Fatty acid hydroxylase-associated neurodegeneration
* Fatty aldehyde dehydrogenase deficiency - See Sjogren-Larsson syndrome
* Fatty Liver with Encephalopathy - See Reye syndrome
* Fatty metamorphosis of viscera - See Visceral steatosis
* FATWO - See Wolffian tumor
* Faulk Epstein Jones syndrome
* FAv sequence - See Goldenhar disease
* Favre hyaloideoretinal degeneration - See Goldmann-Favre syndrome
* Faye-Petersen-Ward-Carey syndrome
* Fazio Londe syndrome
* Fazio-Londe disease - See Fazio Londe syndrome
* FBD - See Dementia familial British
* FBH1 - See Familial hypocalciuric hypercalcemia type 1
* FBH2 - See Familial hypocalciuric hypercalcemia type 2
* FBH3 - See Familial hypocalciuric hypercalcemia type 3
* FBHOk - See Familial hypocalciuric hypercalcemia type 3
* FBSN - See Familial bilateral striatal necrosis
* FCAS - See Familial cold autoinflammatory syndrome
* FCDT - See Focal cortical dysplasia of Taylor
* FCH - See Nuchal bleb, familial
* FCMD - See Fukuyama type muscular dystrophy
* FCOD - See Florid cemento-osseous dysplasia
* FCS syndrome - See Costello syndrome
* FD - See Familial dysautonomia
* FDD - See Dementia, familial Danish
* 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
* FECD1 - See Corneal dystrophy Fuchs endothelial 1
*   FECD2 - See Corneal dystrophy Fuchs endothelial 2
* 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
* Femoral dysgenesis, bilateral - See Femoral facial syndrome
* Femoral facial syndrome
* Femoral hypoplasia unusual facies syndrome - See Femoral facial syndrome
* Femoral trochlear dysplasia - See Trochlear dysplasia
* Femur bifid with monodactylous ectrodactyly
* Femur fibula ulna syndrome
* FENIB - See Familial encephalopathy with neuroserpin inclusion bodies
* Fenton Wilkinson Toselano syndrome
* FEO - See Polyostotic osteolytic dysplasia, hereditary expansile
* Ferguson-Smith type epithelioma - See Multiple self healing squamous epithelioma
* Ferlini-Ragno-Calzolari syndrome - See Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
* Fernhoff-Blackston-Oakley syndrome - See Intrauterine growth retardation - mandibular malar hypoplasia
* Ferritin-related neurodegeneration - See Neuroferritinopathy
* Ferrocalcinosis, cerebrovascular - See Familial idiopathic basal ganglia calcification
* Ferrochelatase deficiency - See Erythropoietic protoporphyria
* 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
* Fetal Alcohol Syndrome (FAS) - type - See Fetal Alcohol Spectrum Disorders
* Fetal aminopterin syndrome
* Fetal and neonatal alloimmune thrombocytopenia
* Fetal anticoagulant syndrome - See Warfarin syndrome
* Fetal antihypertensive drugs syndrome
* Fetal brain disruption sequence
* Fetal cocaine syndrome - See Cocaine antenatal infection
* Fetal cystic hygroma - See Nuchal bleb, familial
* Fetal 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
* Fetal methotrexate syndrome - See Fetal aminopterin syndrome
* Fetal methyl mercury 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 twin transfusion syndrome
* Fetal trimethadione syndrome - See German syndrome
* Fetal valproate syndrome
* Fetal varicella infection - See Congenital varicella syndrome
* Fetal varicella syndrome - See Varicella virus antenatal infection
* Fetal varicella zoster syndrome - See Congenital varicella syndrome
* Fetal warfarin syndrome
* Fetofetal transfusion syndrome - See Twin 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
* 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
* FGDY - See Aarskog syndrome
* FGS - See FG syndrome
* FGS1 - See FG syndrome
* FGS2 - See FG syndrome 2
* FGS3 - See FG syndrome 3
* FGS4 - See FG syndrome 4
*   FH - See Hypercholesterolemia, autosomal dominant
* FH2 - See Familial hyperaldosteronism type 2
* FHA - See Familial HDL deficiency
*   FHC - See Hypercholesterolemia, autosomal dominant
* FHD - See Familial HDL deficiency
* FHF - See Periodic fever, familial, autosomal dominant
* FHH1 - See Familial hypocalciuric hypercalcemia type 1
* FHI - See Fuchs heterochromic iridocyclitis
* FHII - See Familial hyperaldosteronism type 2
* 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 - See Familial idiopathic basal ganglia calcification
* Fibrillary astrocytoma (histologic variant) - See Diffuse astrocytoma
* Fibrin stabilizing factor deficiency - See Factor XIII deficiency
* Fibrinogen deficiency, congenital
* 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 - See Fibrolamellar hepatocellular carcinoma
* Fibrolamellar hepatocellular carcinoma
* Fibrolamellar oncocytic hepatoma - See Fibrolamellar hepatocellular carcinoma
* Fibrolamellar variant of hepatocellular carcinoma - See Fibrolamellar hepatocellular carcinoma
*   Fibromatosis
* 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 juvenile hyaline - See Juvenile hyaline fibromatosis
* Fibromatosis multiple non ossifying
* Fibromatosis, familial infiltrative - See Desmoid disease, hereditary
*   Fibromuscular dysplasia
*   Fibromuscular dysplasia of arteries - See Fibromuscular dysplasia
* 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
* 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 hypoplasia and complex brachydactyly
* Fibular hypoplasia scapulo pelvic dysplasia absent
* 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 disease, hereditary
* Fifteen dorsal vertebrae and rib pairs - See Melhem Fahl syndrome
* Fifth digit syndrome - See Coffin-Siris syndrome
* Fifth Disease - See Parvovirus antenatal infection
* Fifth Phacomatosis - See Nevoid basal cell carcinoma syndrome
* 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
* Finger locking recurrent with intrauterine growth retardation and proportionate short stature
* Finlay-Marks Syndrome - See Scalp ear nipple syndrome
* Finnish congenital nephrosis - See Congenital nephrotic syndrome Finnish type
* Finnish lactic acidosis with hepatic hemosiderosis - See GRACILE syndrome
* Finnish lethal neonatal metabolic syndrome - See GRACILE syndrome
* Finucane Kurtz Scott syndrome - See Epiphyseal dysplasia hearing loss dysmorphism
* FIPA - See Familial isolated pituitary adenoma
* FIRES - See Febrile infection-related epilepsy syndrome
* First and second branchial arch syndrome - See Hemifacial microsomia
* Fish malodor syndrome - See Trimethylaminuria
* Fish myxosporean parasites - See Myxozoa
* Fish odor syndrome - See Trimethylaminuria
* Fish scale disease - See Ichthyosis vulgaris
* Fish scale disease, acquired - See Ichthyosis, acquired
* Fish tank granuloma - See Mycobacterium Marinum
* Fish-eye disease
* Fishman syndrome - See Encephalocraniocutaneous lipomatosis
* Fistulous vegetative verrucous hydradenoma - See Syringocystadenoma papilliferum
* Fitz-Hugh-Curtis syndrome
* Fitzsimmons syndrome - See Fitzsimmons-Guilbert syndrome
* Fitzsimmons syndrome
* Fitzsimmons Walson Mellor syndrome
* Fitzsimmons-Guilbert syndrome
* Fixation of the scapula to the first rib by a congenitally short costocoracoid ligament - See Costocoracoid ligament congenitally short
* FJHN - See Familial juvenile hyperuricaemic nephropathy
* FJHN atypical - See Maturity-onset diabetes of the young, type 5
* 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
* Flegel disease - See Hyperkeratosis lenticularis perstans
* Flegel's disease - See Hyperkeratosis lenticularis perstans
* Fleisher syndrome - See Isolated growth hormone deficiency type 3
* FLL-HCC - See Fibrolamellar hepatocellular carcinoma
* FLNMS - See GRACILE syndrome
* Floating spleen - See Wandering spleen
* Floating-Harbor syndrome
* Florid cemento-osseous dysplasia
* Florid cystic endosalpingiosis of the uterus
* Florid papillomatosis - See Florid papillomatosis of the nipple
* Florid papillomatosis of the nipple
* FLOTCH syndrome
*   Fluid retention syndrome - See Idiopathic edema
* Flynn Aird syndrome
*   FMD - See Fibromuscular dysplasia
* FMF - See Familial Mediterranean fever
* FN abnormality - See Ehlers-Danlos syndrome dysfibronectinemic type
* FND - See Conversion disorder
* Foamy myocardial transformation of infancy - See Infantile histiocytoid cardiomyopathy
* Focal agyria pachygyria - See Partial lissencephaly
* Focal alopecia congenital megalencephaly
* 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
* Focal facial dermal dysplasia
* Focal facial dermal dysplasia type 2 - See Facial ectodermal dysplasia
* Focal lipid cardiomyopathy - See Infantile histiocytoid cardiomyopathy
* Focal non epidermolytic palmoplantar keratoderma - See Tylosis
* Focal or multifocal malformations in neuronal migration
* Focal palmoplantar and oral mucosa hyperkeratosis - See Keratosis focal palmoplantar gingival
* Focal palmoplantar keratoderma with sensorineural deafness (subtype) - See Keratoderma palmoplantar deafness
* Focal sclerosis with hyalinosis - See Focal segmental glomerulosclerosis
* Focal segmental glomerulosclerosis
* Focal segmental glomerulosclerosis 1 - See Focal segmental glomerulosclerosis
*   Focal task specific dystonia - See Focal dystonia
* FODH - See Focal dermal hypoplasia
* Foix Chavany Marie syndrome
* 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 planus follicularis
* 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 Atrophodermia vermiculata
* Folliculitis ulerythematosa reticulata - See Atrophodermia 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 Albright syndrome
* Forbes disease - See Glycogen storage disease type 3
* Forelock - See Catatrichy
*   Forestier disease - See Diffuse idiopathic skeletal hyperostosis
*   Forestier-Rotes disease - See Diffuse idiopathic skeletal hyperostosis
* 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
* Forrest H Adams syndrome - See Adams Oliver syndrome
* 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
* Fox-Fordyce disease
* Fox-Fordyce syndrome - See Fox-Fordyce disease
* FPAH - See Pulmonary arterial hypertension
* FPC - See Familial adenomatous polyposis
* FPD/AML - See Platelet disorder, familial, with associated myeloid malignancy
* FPD1 - See Dystonia 8
* FPDMM - See Platelet disorder, familial, with associated myeloid malignancy
* FPF - See Periodic fever, familial, autosomal dominant
* FPL2 - See Lipodystrophy, familial partial, type 2
* FPLD2 - See Lipodystrophy, familial partial, type 2
* FPO - See Oto-palato-digital syndrome type 2
* FRA - See Pyogenic arthritis, pyoderma gangrenosum and acne
* Fra(X) syndrome - See Fragile X syndrome
* Fraccaro achondrogenesis - See Achondrogenesis type 1B
* 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 XE syndrome
* Fragilitas oculi with joint hyperextensibility - See Brittle cornea syndrome
* Fragilitas ossium - See Osteogenesis imperfecta
* Frambesia - See Yaws
* Frambesia tropica - See Yaws
* Franceschini Vardeu Guala syndrome
* Francisella tularensis infection - See Tularemia
* Francois dyscephalic syndrome - See Hallermann-Streiff syndrome
* Francois syndrome - See Dermochondrocorneal dystrophy of François
* Franek Bocker kahlen syndrome
* 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 like syndrome
* Fraser syndrome
* Fraser-Francois syndrome - See Fraser syndrome
* Frasier syndrome
* FRAXA syndrome - See Fragile X syndrome
* FRAXD
* FRAXE syndrome - See Fragile XE syndrome
* FRC - See Familial renal cell carcinoma
* FRCC - See Familial renal cell carcinoma
* FRDA - See Friedreich ataxia
* Free sialic acid storage disease
* Freeman Sheldon syndrome
* Freeman Sheldon syndrome, variant - See Arthrogryposis distal type 2B
* Freiberg-Kohler syndrome - See Freiberg's disease
* Freiberg's disease
* Freiberg's infraction - See Freiberg's disease
* Freire-Maia odontotrichomelic syndrome
* Freire-Maia Pinheiro Opitz syndrome - See Neurofaciodigitorenal syndrome
* Frenga - See Bejel
* Frenkel Russe syndrome
* Frey syndrome - See Frey's syndrome
* Frey's syndrome
* Frias syndrome
* Friedel Heid Grosshans syndrome
* Friedman Goodman syndrome
* Friedman-Goodman syndrome - See FACES syndrome
* Friedreich ataxia
* Friedreich ataxia congenital glaucoma
* 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 Froelich syndrome
* Froelich syndrome
* Froelich's adiposity - See Froelich syndrome
* Froelich's syndrome - See Froelich syndrome
* Frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia - See Akaba Hayasaka syndrome
* Frontal fibrosing alopecia
* 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 acromelic
* Frontonasal dysplasia and dilated virchow-robin spaces - See Sener syndrome
* Frontonasal dysplasia Klippel Feil syndrome
* Frontonasal dysplasia phocomelic upper limbs
* Frontonasal dysplasia with alar clefts - See Coloboma of alar-nasal cartilages with telecanthus
* 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
* FRTS - See Fanconi renotubular syndrome
* Fructose 1,6 diphosphatase deficiency - See Fructose-1,6-bisphosphatase deficiency
* Fructose intolerance, hereditary - See Hereditary fructose intolerance
* Fructose malabsorption - See Acquired fructose intolerance
* Fructose-1,6-bisphosphatase deficiency
* Fructose-1,6-bisphosphate aldolase B deficiency - See Hereditary fructose intolerance
* Fructose-1-phosphate aldolase deficiency - See Hereditary fructose intolerance
*   Fructosuria
* 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 Dereymaeker Haegeman syndrome - See Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
* 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
* FSGS1 - 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
* FSSV - See Arthrogryposis distal type 2B
* FTC - See Thyroid cancer, follicular
* FTD - See Frontotemporal dementia
* FTLE - See Temporal epilepsy, familial
*   FTSD - See Focal dystonia
* FTSS - See Camptodactyly syndrome Guadalajara type 1
* Fuchs atrophia gyrata chorioideae et retinae
* Fuchs endothelial corneal dystrophy 1 - See Corneal dystrophy Fuchs endothelial 1
*   Fuchs endothelial corneal dystrophy 2 - See Corneal dystrophy Fuchs endothelial 2
* Fuchs' endothelial dystrophy type 1 - See Corneal dystrophy Fuchs endothelial 1
*   Fuchs' endothelial dystrophy type 2 - See Corneal dystrophy Fuchs endothelial 2
* Fuchs gyrate atrophy - See Fuchs atrophia gyrata chorioideae et retinae
* Fuchs gyrate atrophy of the choroid and retina - See Fuchs atrophia gyrata chorioideae et retinae
* 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 Myoclonus with 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
* Functioning pancreatic endocrine tumor
* Fundus dystrophy, pseudoinflammatory recessive form - See Pseudoinflammatory fundus dystrophy
* Fundus dystrophy, pseudoinflammatory, of Sorsby
* Fuqua Berkovitz syndrome
* Furlong syndrome - See Loeys-Dietz syndrome
* Furuncular myiasis - See Furunculous myiasis
* Furunculous myiasis
* Fused incisors - See Single upper central incisor
* Fused legs and feet - See Sirenomelia
* Fused mandibular incisors
* Fusion just distal to the proximal radial epiphysis in association with congenital dislocation of the radial head - See Radio-ulnar synostosis type 2
* 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
* FWT2 - See Familial Wilms tumor 2
* FXS - See Fragile X syndrome