F

F12-associated cold autoinflammatory syndromeImmuneView → F12-related hereditary angioedema with normal C1InhView → Fabry Disease38 recruitingMetabolicView → Facial cleftGroupView → Facial dermoid cystView → Facial diplegia with paresthesiasView → Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndromeView → Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathyNeurologicalView → Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionView → Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationView → Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndromeNeurologicalView → Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndromeNeurologicalView → Facial dysmorphism-immunodeficiency-livedo-short stature syndromeImmuneView → Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndromeView → Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndromeView → Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndromeView → Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndromeView → Facial dysmorphism-shawl scrotum-joint laxity syndromeView → Facial onset sensory and motor neuronopathyNeuromuscularView → Faciocardiorenal syndromeRenalView → Facioscapulohumeral Muscular Dystrophy20 recruitingNeuromuscularView → Factor V Amsterdam bleeding disorderView → Factor V Atlanta bleeding disorderView → Factor V short isoforms-related bleeding disorderView → Factor XIII Deficiency1 recruitingBloodView → FADD-related immunodeficiencyImmuneView → Faisalabad histiocytosis1 recruitingImmuneView → Fallot complex-intellectual disability-growth delay syndromeView → Familial abdominal aortic aneurysmView → Familial acute necrotizing encephalopathyNeurologicalView → Familial adenomatous polyposis18 recruitingView → Familial adrenal hypoplasia with absent pituitary luteinizing hormoneRenalView → Familial adult myoclonic epilepsyNeurologicalView → Familial advanced sleep-phase syndromeView → Familial afibrinogenemiaView → Familial Alzheimer-like prion diseaseNeurologicalView → Familial anetodermaView → Familial angiolipomatosisView → Familial aortic dissection1 recruitingView → Familial apolipoprotein A5 deficiencyView → Familial apolipoprotein C-II deficiency1 recruitingView → Familial articular hypermobility syndromeView → Familial atrial myxomaView → Familial atypical multiple mole melanoma syndrome3 recruitingView → Familial avascular necrosis of femoral headView → Familial benign copper deficiencyView → Familial benign flecked retinaView → Familial bicuspid aortic valve1 recruitingView → Familial calcium pyrophosphate depositionView → Familial caudal dysgenesis1 recruitingView → Familial cavitary optic disc anomalyView → Familial cerebral cavernous malformation2 recruitingView → Familial cerebral saccular aneurysmView → Familial Chilblain lupusView → Familial chylomicronemia syndrome2 recruitingView → Familial clubfoot due to 17q23.1q23.2 microduplicationView → Familial clubfoot due to 5q31 microdeletionView → Familial clubfoot due to PITX1 point mutationView → Familial clubfoot with or without associated lower limb anomaliesView → Familial cold urticaria5 recruitingView → Familial colorectal cancer Type X2 recruitingView → Familial congenital mirror movementsView → Familial congenital nasolacrimal duct obstructionView → Familial congenital palsy of trochlear nerve1 recruitingView → Familial cortical myoclonusView → Familial cutaneous collagenomaView → Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndromeView → Familial cylindromatosisView → Familial developmental dysphasiaView → Familial digital arthropathy-brachydactylyView → Familial dilated cardiomyopathyNeuromuscularGroupView → Familial dilated cardiomyopathy with conduction defect due to LMNA mutation2 recruitingNeuromuscularView → Familial drusenView → Familial dysautonomia4 recruitingView → Familial dysfibrinogenemiaView → Familial dyskinesia and facial myokymiaView → Familial encephalopathy with neuroserpin inclusion bodiesNeurologicalView → Familial episodic pain syndromeView → Familial episodic pain syndrome with predominantly lower limb involvementView → Familial episodic pain syndrome with predominantly upper body involvementView → Familial expansile osteolysisView → Familial exudative vitreoretinopathy1 recruitingOphthalmologicalView → Familial focal epilepsy with variable fociNeurologicalView → Familial gastric type 1 neuroendocrine tumorEndocrineView → Familial generalized lentiginosisView → Familial gestational hyperthyroidismEndocrineView → Familial glucocorticoid deficiencyView → Familial GPIHBP1 deficiencyView → Familial Hemophagocytic Lymphohistiocytosis2 recruitingImmuneView → Familial hyperaldosteronism type I1 recruitingView → Familial hyperaldosteronism type IIView → Familial hyperaldosteronism type IIIView → Familial hyperaldosteronism type IVView → Familial hypercholanemiaBloodView → Familial hyperinflammatory lymphoproliferative immunodeficiencyImmuneView → Familial hyperinsulinismGroupView → Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndromeView → Familial hyperprolactinemiaView → Familial hyperthyroidism due to mutations in TSH receptorEndocrineView → Familial hypoaldosteronismView → Familial hypocalciuric hypercalcemiaView → Familial hypocalciuric hypercalcemia type 1View → Familial hypocalciuric hypercalcemia type 2View → Familial hypocalciuric hypercalcemia type 3View → Familial hypodysfibrinogenemiaView → Familial hypofibrinogenemiaView → Familial idiopathic dilatation of the right atriumView → Familial infantile bilateral striatal necrosisView → Familial infantile myoclonic epilepsyNeurologicalView → Familial intestinal malrotationView → Familial intrahepatic cholestasisGroupView → Familial intraosseous vascular malformationView → Familial isolated café-au-lait maculesView → Familial isolated clinodactyly of fingersView → Familial isolated congenital asplenia1 recruitingView → Familial isolated dilated cardiomyopathy1 recruitingNeuromuscularView → Familial isolated hyperparathyroidism1 recruitingEndocrineView → Familial isolated hypoparathyroidismEndocrineView → Familial isolated hypoparathyroidism due to agenesis of parathyroid glandEndocrineView → Familial isolated hypoparathyroidism due to impaired PTH secretionEndocrineView → Familial isolated pituitary adenoma2 recruitingEndocrineView → Familial isolated retinal arteriolar tortuosityOphthalmologicalView → Familial isolated trichomegalyView → Familial juvenile hypertrophy of the breast1 recruitingView → Familial keratoacanthomaView → Familial LCAT deficiency1 recruitingView → Familial lipase maturation factor 1 deficiencyView → Familial lipoprotein lipase deficiency3 recruitingView → Familial median cleft of the upper and lower lipsView → Familial Mediterranean Fever39 recruitingImmuneView → Familial melanoma7 recruitingView → Familial mesial temporal lobe epilepsyNeurologicalView → Familial mesial temporal lobe epilepsy with febrile seizuresNeurologicalView → Familial mitral valve prolapseView → Familial monosomy 7 syndromeView → Familial multinodular goiterView → Familial multiple discoid fibromasView → Familial multiple fibrofolliculomaView → Familial multiple lipomatosisView → Familial multiple meningiomaOncologyView → Familial multiple nevi flammeiView → Familial multiple trichoepitheliomaView → Familial nasal aciliaView → Familial normophosphatemic tumoral calcinosisView → Familial omphalocele syndrome with facial dysmorphismView → Familial or sporadic hemiplegic migraineView → Familial ossifying fibromaView → Familial osteochondritis dissecansView → Familial osteodysplasia, Anderson typeView → Familial pancreatic carcinoma15 recruitingOncologyView → Familial papillary or follicular thyroid carcinomaEndocrineView → Familial papillary thyroid carcinoma with renal papillary neoplasiaRenalView → Familial paroxysmal ataxia2 recruitingNeurologicalView → Familial partial lipodystrophy, Dunnigan typeView → Familial partial lipodystrophy, Köbberling typeView → Familial patent arterial ductView → Familial peripheral male-limited precocious pubertyView → Familial platelet disorder with associated myeloid malignancy1 recruitingBloodView → Familial porencephaly2 recruitingView → Familial porphyria cutanea tardaBloodView → Familial primary localized cutaneous amyloidosisView → Familial progressive hyper- and hypopigmentationView → Familial progressive hyperpigmentationView → Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeOphthalmologicalView → Familial progressive vestibulocochlear dysfunctionView → Familial prostate cancer9 recruitingView → Familial pseudohyperkalemiaView → Familial pseudohyperkalemia type 1View → Familial pterygium of the conjunctivaView → Familial reactive perforating collagenosisView → Familial recurrent peripheral facial palsyView → Familial renal glucosuria1 recruitingRenalView → Familial restrictive cardiomyopathyNeuromuscularGroupView → Familial retinal arterial macroaneurysmOphthalmologicalView → Familial scaphocephaly syndromeGroupView → Familial scaphocephaly syndrome, McGillivray typeView → Familial schizencephalyView → Familial sinus histiocytosis with massive lymphadenopathyImmuneView → Familial spontaneous pneumothorax5 recruitingView → Familial steroid-resistant nephrotic syndrome with adrenal insufficiency2 recruitingRenalView → Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 recruitingRenalView → Familial supernumerary nipplesView → Familial syringomyeliaView → Familial temporal lobe epilepsyNeurologicalView → Familial thoracic aortic aneurysm and aortic dissectionView → Familial thrombocytosis1 recruitingView → Familial thrombomodulin anomaliesView → Familial thyroglossal duct cystView → Familial thyroid dyshormonogenesisEndocrineView → Familial tumoral calcinosis1 recruitingView → Familial vesicoureteral refluxView → Familial visceral myopathy2 recruitingNeuromuscularView → Fanconi Anemia23 recruitingBloodView → Fanconi syndrome-ichthyosis-dysmorphism syndromeBloodView → Fanconi-Bickel syndrome1 recruitingBloodView → Farber diseaseView → FasciolopsiasisView → Fast-channel congenital myasthenic syndromeView → Fast-flow vascular malformationGroupView → FASTKD2-related infantile mitochondrial encephalomyopathyNeuromuscularView → Fatal congenital hypertrophic cardiomyopathy due to glycogen storage diseaseNeuromuscularView → Fatal familial insomnia5 recruitingView → Fatal infantile cytochrome C oxidase deficiencyView → Fatal infantile encephalopathy-pulmonary hypertension syndromeNeurologicalView → Fatal infantile hypertonic myofibrillar myopathyNeuromuscularView → Fatal infantile lactic acidosis with methylmalonic aciduriaMetabolicView → Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3MitochondrialView → Fatal post-viral neurodegenerative disorderNeurologicalView → FATCO syndromeView → Fatty acid hydroxylase-associated neurodegeneration1 recruitingNeurologicalView → Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathyNeuromuscularGroupView → Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathyNeuromuscularGroupView → Fatty acyl-CoA reductase 1 deficiencyView → FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeView → Febrile infection-related epilepsy syndromeNeurologicalView → Fechtner syndromeView → Feingold syndromeView → Feingold syndrome type 1View → Feingold syndrome type 2View → Felty syndromeView → Female adnexal tumor of probable Wolffian origin7 recruitingView → Female infertility due to an implantation defect of genetic originGroupView → Female infertility due to oocyte meiotic arrestView → Female infertility due to zona pellucida defectView → Female restricted epilepsy with intellectual disabilityNeurologicalView → Femoral-facial syndromeView → Femur-fibula-ulna complexView → Ferro-cerebro-cutaneous syndromeView → Ferroportin disease1 recruitingView → Fetal akinesia deformation sequenceView → Fetal akinesia-cerebral and retinal hemorrhage syndromeOphthalmologicalView → Fetal alcohol syndrome12 recruitingView → Fetal and neonatal alloimmune thrombocytopenia2 recruitingBloodView → Fetal carbamazepine syndromeView → Fetal cytomegalovirus syndrome3 recruitingView → Fetal encasement syndromeView → Fetal Gaucher disease1 recruitingMetabolicView → Fetal hydantoin syndromeView → Fetal iodine syndromeView → Fetal lung interstitial tumorView → Fetal methylmercury syndromeView → Fetal minoxidil syndromeView → Fetal parvovirus syndromeView → Fetal trimethadione syndromeView → Fetal valproate spectrum disorderView → Fever-associated acute infantile liver failure syndromeView → FG syndrome type 1View → FGFR2-related bent bone dysplasiaView → FGFR3-related chondrodysplasiaGroupView → Fibrillary astrocytoma1 recruitingView → Fibro-adipose vascular anomalyView → Fibroblastic rheumatismView → FibrochondrogenesisView → Fibrodysplasia Ossificans Progressiva4 recruitingConnective TissueView → Fibrohistiocytic inflammatory pseudotumor of the liverView → Fibrolamellar hepatocellular carcinoma9 recruitingOncologyView → Fibromuscular dysplasia8 recruitingView → Fibromuscular dysplasia of the arteries of the extremitiesView → Fibromuscular dysplasia of the cervical and intracranial arteriesView → Fibromuscular dysplasia of the coronary arteries1 recruitingView → Fibromuscular dysplasia of the renal arteries2 recruitingRenalView → Fibromuscular dysplasia of the visceral arteriesView → Fibronectin glomerulopathyRenalView → Fibroneural non-saccular limited dorsal myeloschisisView → Fibrosarcoma29 recruitingOncologyView → Fibrosis-neurodegeneration-cerebral angiomatosis syndromeNeurologicalView → Fibrotic hypersensitivity pneumonitisView → Fibrous dysplasia of bone6 recruitingView → Fibular aplasia-complex brachydactyly syndromeView → Fibular aplasia-ectrodactyly syndromeView → Fibular dimelia-diplopodia syndromeView → Fibulo-ulnar hypoplasia-renal anomalies syndromeRenalView → Filamin-related bone disorderGroupView → FilariasisGroupView → Filippi syndromeView → Finger hyperphalangy-toe anomalies-severe pectus excavatum syndromeView → Fingerprint body myopathyNeuromuscularView → First branchial cleft anomalyView → Fish-eye disease3 recruitingView → Fixed drug eruption1 recruitingView → Fixed subaortic stenosisView → FKRP-related limb-girdle muscular dystrophy R92 recruitingNeuromuscularView → Flat face-microstomia-ear anomaly syndromeView → Fleck corneal dystrophyOphthalmologicalView → FLNA-related X-linked myxomatous valvular dysplasiaView → FLNC-related handgrip and calf weakness-distal myopathyNeuromuscularView → Floating-Harbor syndromeView → Florid cemento-osseous dysplasiaView → FLOTCH syndromeView → Flynn-Aird syndromeView → Focal acral hyperkeratosisView → Focal dermal hypoplasiaView → Focal epilepsy-intellectual disability-cerebro-cerebellar malformationNeurologicalView → Focal facial dermal dysplasiaView → Focal facial dermal dysplasia type IView → Focal facial dermal dysplasia type IIView → Focal facial dermal dysplasia type IIIView → Focal facial dermal dysplasia type IVView → Focal myositisView → Focal palmoplantar and gingival keratodermaDermatologicalView → Focal palmoplantar keratodermaDermatologicalGroupView → Focal palmoplantar keratoderma with joint keratosesDermatologicalView → Focal stiff limb syndromeView → Focal, segmental or multifocal dystoniaGroupView → Foix-Chavany-Marie syndromeView → Folinic acid-responsive seizuresNeurologicalView → Follicular cholangitis and pancreatitisView → Follicular dendritic cell sarcoma11 recruitingOncologyView → Follicular lymphoma243 recruitingBloodView → Folliculotropic mycosis fungoides2 recruitingView → Fontaine progeroid syndromeView → Fontan-associated liver disease3 recruitingView → Foodborne botulism1 recruitingView → Formiminoglutamic aciduriaMetabolicView → Fountain syndromeView → Fourth branchial cleft anomalyView → Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndromeView → Foveal hypoplasia-presenile cataract syndromeView → Fowler urethral sphincter dysfunction syndromeView → Fowler vasculopathyView → FOXG1 Syndrome2 recruitingNeurologicalView → FOXG1 syndrome due to 14q12 microdeletionView → FOXG1 syndrome due to intragenic alterationView → FOXP1 Syndrome2 recruitingView → Fragile X Syndrome16 recruitingNeurologicalView → Fragile X-associated primary ovarian insufficiencyView → Fragile X-associated tremor/ataxia syndrome1 recruitingNeurologicalView → Frank-Ter Haar syndromeView → Fraser syndromeView → Fraser-like syndromeView → Frasier syndrome1 recruitingView → FRAXE intellectual disabilityView → FRAXF syndromeView → Free sialic acid storage disease1 recruitingMetabolicView → Free sialic acid storage disease, infantile formMetabolicView → Freeman-Sheldon syndrome1 recruitingView → Frey syndromeView → Fried syndromeView → Fried's tooth and nail syndromeView → Friedreich Ataxia19 recruitingNeurologicalView → Frontal encephaloceleView → Frontal fibrosing alopecia2 recruitingView → Frontofacionasal dysplasiaView → Frontometaphyseal dysplasiaView → Frontonasal dysplasia-alopecia-genital anomalies syndromeView → Frontonasal dysplasia-bifid nose-upper limb anomalies syndromeView → Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeOphthalmologicalView → FrontorhinyView → Frontotemporal dementia with motor neuron disease12 recruitingNeuromuscularView → Frontotemporal dementia, right temporal atrophy variantView → Frontotemporal neurodegeneration with movement disorderNeurologicalGroupView → Fructose-1,6-bisphosphatase deficiencyView → Fryns syndromeView → Fryns-Smeets-Thiry syndromeView → FTH1-related iron overloadView → Fuchs endothelial corneal dystrophy21 recruitingOphthalmologicalView → Fuchs heterochromic iridocyclitisView → Fucosidosis1 recruitingMetabolicView → Fuhrmann syndromeView → Fukuda-Miyanomae-Nakata syndromeView → Fukutin-related limb-girdle muscular dystrophy R132 recruitingNeuromuscularView → Full schwannomatosisView → Fulminant viral hepatitisView → Fumaric aciduria1 recruitingMetabolicView → Functioning gonadotropic adenomaView → Functioning neuroendocrine tumor of pancreasEndocrineGroupView → Fundus albipunctatus1 recruitingView → Fundus pulverulentusView → Fungal keratitis1 recruitingView → Fungal myositisView → Furlong syndromeView → Furuncular myiasisView → Furuncular myiasis due to Cordylobia anthropophagaView → Furuncular myiasis due to Cordylobia rodhainiView → Furuncular myiasis due to Dermatobia hominisView → Fusariosis1 recruitingView → Fused mandibular incisorsView → OBSOLETE: Facial asymmetry-temporal seizures syndromeNeurologicalRetired termView → OBSOLETE: Familial articular chondrocalcinosis type 1Retired termView → OBSOLETE: Familial articular chondrocalcinosis type 2Retired termView → OBSOLETE: Familial capillary hemangiomaRetired termView → OBSOLETE: Familial cervical artery dissectionRetired termView → OBSOLETE: Familial chondromalacia patellaeRetired termView → OBSOLETE: Familial esophageal achalasiaRetired termView → OBSOLETE: Familial flecked retinopathyRetired termView → OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1Retired termView → OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2Retired termView → OBSOLETE: Familial hypospadiasRetired termView → OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferationRenalRetired termView → OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosisRenalRetired termView → OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosisRenalRetired termView → OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changesRenalRetired termView → OBSOLETE: Familial intestinal malrotation-facial anomalies syndromeRetired termView → OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1RenalRetired termView → OBSOLETE: Familial lambdoid synostosisRetired termView → OBSOLETE: Familial parathyroid adenomaEndocrineRetired termView → OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemiaRetired termView → OBSOLETE: Familial pseudohyperkalemia type 2Retired termView → OBSOLETE: Familial pseudohyperkalemia, Cardiff typeRetired termView → OBSOLETE: Familial renal cell carcinomaRenalRetired termView → OBSOLETE: Familial restrictive cardiomyopathy type 1NeuromuscularRetired termView → OBSOLETE: Familial restrictive cardiomyopathy type 2NeuromuscularRetired termView → OBSOLETE: Familial restrictive cardiomyopathy type 3NeuromuscularRetired termView → OBSOLETE: Familial segmental neurofibromatosisRetired termView → OBSOLETE: Familial spinal neurofibromatosisRetired termView → OBSOLETE: Farmer's lung diseaseRetired termView → OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiencyNeuromuscularRetired termView → OBSOLETE: Femoral agenesis/hypoplasia, bilateralRetired termView → OBSOLETE: Femoral agenesis/hypoplasia, unilateralRetired termView → OBSOLETE: Fibrocalculous pancreatopathyRetired termView → OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndromeRetired termView → OBSOLETE: Fibular hemimelia, bilateralRetired termView → OBSOLETE: Fibular hemimelia, unilateralRetired termView → OBSOLETE: Foix-Alajouanine syndromeRetired termView → OBSOLETE: Follicular atrophoderma-basal cell carcinomaOncologyRetired termView → OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndromeRetired termView → OBSOLETE: Frontonasal arteriovenous malformationRetired termView →