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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.

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No hemos publicado información en español sobre enfermedades que comiencen con esta letra. Por favor contáctenos.

  • 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 ABri amyloidosis
  • 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 - See CYLD cutaneous syndrome
  • 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 ABri amyloidosis
  • 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 dilated cardiomyopathy with conduction defect due to LMNA mutation - See Dilated cardiomyopathy 1A
  • 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 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 Genetic steroid-resistant nephrotic syndrome
  • Familial idiopathic nephrotic syndrome - See Focal segmental glomerulosclerosis
  • Familial idiopathic priapism - See Priapism
  • Familial idiopathic pulmonary fibrosis - See Idiopathic pulmonary fibrosis
  • Familial idiopathic steroid-resistant nephrotic syndrome - See 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 convulsions and paroxysmal choreoathetosis
  • 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 hypoparathyroidism
  • 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 and renal cell cancer - See Hereditary leiomyomatosis and renal cell cancer
  • Familial leiomyomatosis cutis et uteri - See Hereditary leiomyomatosis and renal cell cancer
  • Familial leiomyomatosis with renal carcinoma - 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 cutaneous leiomyomas - See Hereditary leiomyomatosis and renal cell cancer
  • Familial multiple lipomatosis
  • Familial multiple polyposis - See Familial adenomatous polyposis
  • Familial multiple trichodiscomas
  • 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 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 ABri amyloidosis
  • 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 Müllerian duct syndrome
  • Female Pseudo-Turner Syndrome - See Noonan syndrome
  • Female restricted epilepsy with intellectual disability - 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 Autosomal 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 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, variant - See Sheldon-Hall syndrome
  • Freeman Sheldon variant - See Sheldon-Hall syndrome
  • Freeman-Burian syndrome - See Freeman-Sheldon syndrome
  • Freeman-Sheldon 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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