Browse A-Z

Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly. Read more about which diseases are included on the GARD website.

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
Familial Alzheimer disease - See Familial Alzheimer disease
Familial Alzheimer disease - See Early-onset, autosomal dominant 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 aortic dissection
Familial aortic dissection - See Familial thoracic aortic aneurysm and aortic 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 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 Autosomal recessive candidiasis familial chronic mucocutaneous
FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT - See Autosomal dominant candidiasis familial chronic mucocutaneous
Familial chylomicronemia syndrome
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 Cutaneous Melanoma - See Hereditary melanoma
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 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 hypotransferrinemia - See Atransferrinemia
Familial idiopathic basal ganglia calcification (formerly) - See Primary Familial Brain Calcification
Familial idiopathic nephrotic syndrome - See Focal segmental glomerulosclerosis
Familial idiopathic nephrotic syndrome - See Genetic steroid-resistant nephrotic syndrome
Familial idiopathic priapism - See Priapism
Familial idiopathic pulmonary fibrosis - See Idiopathic pulmonary fibrosis
Familial idiopathic steroid-resistant nephrotic syndrome - See Genetic steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome - See Focal segmental glomerulosclerosis
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 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 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 Melanoma - See Hereditary melanoma
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 - See Cryoglobulinemic vasculitis
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 coli - See Familial adenomatous polyposis
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 steroid-resistant nephrotic syndrome with adrenal insufficiency - See Sphingosine phosphate lyase insufficiency syndrome
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 aortic 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 aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and dissection - See Familial thoracic aortic aneurysm and aortic 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
Familiar or sporadic hemiplegic migraine
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
Farber lipogranulomatosis - See Farber disease
Farber's disease - See Farber 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 Benign mesonephroma
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 (subtype) - See MYH9 related thrombocytopenia
FED - See Fish-eye disease
Feigenbaum Bergeron Richardson syndrome
Feigenbaum Bergeron syndrome
Feingold syndrome
Feingold Trainer syndrome
Fellman disease - See GRACILE syndrome
Fellman syndrome - See GRACILE syndrome
Felty syndrome - See Felty's syndrome
Felty's syndrome
Female adnexal tumor of probable Wolffian origin - See Benign mesonephroma
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 cytomegalovirus syndrome - See Congenital cytomegalovirus
Fetal diethylstilbestrol syndrome - See Diethylstilbestrol syndrome
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
FHM - See Familial hemiplegic migraine
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
Filamin A-related X-linked myxomatous valvular dysplasia - See X-linked cardiac valvular dysplasia
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
FKRP-related limb-girdle muscular dystrophy R9 - See Limb-girdle muscular dystrophy type 2I
FKRP-related LGMD R9 - See Limb-girdle muscular dystrophy type 2I
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
FLNA-related valvular dystrophy - See X-linked cardiac valvular dysplasia
FLNA-related X-linked myxomatous valvular dysplasia - See X-linked cardiac valvular dysplasia
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 - See Focal task-specific dystonia
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 task-specific dystonia
Focal task-specific dystonia
Focal, segmental or multifocal dystonia - See Focal task-specific dystonia
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 folliculitis decalvans
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 - 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 task-specific dystonia
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
Fuhrmann syndrome
Fukuda Miyanomae Nakata syndrome
Fukuhara syndrome - See Myoclonic epilepsy with ragged red fibers
Fukutin-related limb-girdle muscular dystrophy R13 - See Limb-girdle muscular dystrophy
Fukutin-related LGMD R13 - See Limb-girdle muscular dystrophy
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

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