F
F12-related HAE with normal C1 inhibitor
F12-related hereditary angioedema with normal C1Inh
F5F8D
FA
Fabry disease
FACES syndrome
Facial arteriovenous malformation
Facial cleft
Facial dermoid cyst
Facial diplegia with paresthesias
Facial diplegia with paresthesias variant of GBS
Facial diplegia with paresthesias variant of Guillain-Barré syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Facial hemispasm
Facial nerve palsy due to herpes zoster infection
Facial nerve palsy due to VZV
Facial nerve paralysis due to VZV
Facial neuralgia
Facial onset sensory and motor neuronopathy
Facio-audio-symphalangism
Facioauriculovertebral dysplasia
Faciocardiorenal syndrome
Faciocutaneoskeletal syndrome
Faciodigitogenital syndrome
Facio-digito-genital syndrome, Kuwait type
Faciogenital dysplasia
Facio-genito-popliteal syndrome
Facio-oculo-acoustico-renal syndrome
Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation
Facio-pharyngo-glosso-masticatory diplegia
Facioscapulohumeral dystrophy
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
FACS
Factor IX deficiency
Factor VIII deficiency
Factor V Quebec
FACU
FADD-related immunodeficiency
FADS
FAH deficiency
FAHN
Fallot complex-intellectual disability-growth delay syndrome
FAME
Familial abdominal aortic aneurysm
Familial acute necrotizing encephalopathy
Familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial adrenal adenoma
Familial adrenal hypoplasia, miniature type
Familial adrenal hypoplasia with absent pituitary LH
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Familial adult myoclonic epilepsy
Familial advanced sleep-phase syndrome
Familial afibrinogenemia
Familial Alzheimer disease
Familial Alzheimer-like prion disease
Familial AML
Familial amyloid nephropathy
Familial amyloid nephropathy due to apolipoprotein A-II variant
Familial amyloid nephropathy due to apolipoprotein A-I variant
Familial amyloid nephropathy due to fibrinogen A alpha-chain variant
Familial amyloid nephropathy due to lysozyme variant
Familial amyloidosis, Finnish type
Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type
Familial amyloid polyneuropathy type I
Familial amyloid polyneuropathy type IV
Familial anetoderma
Familial angiolipomatosis
Familial angioneurotic edema
Familial aortic dissection
Familial APOA5 deficiency
Familial apoA-I deficiency
Familial APOC2 deficiency
Familial apoC-II deficiency
Familial apolipoprotein A5 deficiency
Familial apolipoprotein A-V deficiency
Familial apolipoprotein C-II deficiency
Familial articular chondrocalcinosis
Familial articular hypermobility syndrome
Familial atrial fibrillation
Familial atrial myxoma
Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Familial atypical cold urticaria
Familial atypical mole syndrome
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
Familial atypical multiple mole melanoma syndrome
Familial avascular necrosis of femoral head
Familial BAV
Familial benign cervical lipomatosis
Familial benign chronic pemphigus
Familial benign copper deficiency
Familial benign flecked retina
Familial benign hypercalcemia
Familial benign hypocalciuric hypercalcemia
Familial benign hypocupremia
Familial berry aneurysm
Familial bicuspid aortic valve
Familial brain cavernous angioma
Familial breast cancer
Familial breast carcinoma
Familial CAD
Familial café-au-lait spots
Familial calcium pyrophosphate deposition
Familial caudal dysgenesis
Familial cavitary optic disc anomaly
Familial CC
Familial CD8 deficiency
Familial cerebelloretinal angiomatosis
Familial cerebral amyloid angiopathy
Familial cerebral cavernoma
Familial cerebral cavernous malformation
Familial cerebral saccular aneurysm
Familial cervical artery dissection
Familial Chilblain lupus
Familial chondromalacia patellae
Familial chylomicronemia syndrome
Familial Clark nevus syndrome
Familial clubfoot due to 17q23.1q23.2 microduplication
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Familial clubfoot with or without associated lower limb anomalies
Familial CODA
Familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome type 2
Familial cold urticaria
Familial cold urticaria with common variable immunodeficiency
Familial colorectal cancer Type X
Familial congenital controlateral synkinesia
Familial congenital hypopituitarism
Familial congenital mirror movements
Familial congenital nasolacrimal duct obstruction
Familial congenital palsy of trochlear nerve
Familial continuous skin peeling syndrome
Familial cortical myoclonic tremor and epilepsy
Familial cortical myoclonus
Familial CPPD
Familial cutaneous amyloidosis
Familial cutaneous collagenoma
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Familial cylindromatosis
Familial cystic renal disease
Familial dementia, British type
Familial dementia, Danish type
Familial dementia, Neumann type
Familial developmental dysphasia
Familial diffuse cancer of stomach
Familial diffuse gastric cancer
Familial digital arthropathy-brachydactyly
Familial dilated cardiomyopathy
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial distal primary acidosis
Familial doughnut lesions of skull
Familial drusen
Familial dysautonomia
Familial dysautonomia with contractures
Familial dysfibrinogenemia
Familial dyskinesia and facial myokymia
Familial dyslipidemia type 3
Familial dysplastic nevus syndrome
Familial ectopia lentis
Familial ectopic ossification
Familial encephalopathy with neuroserpin inclusion bodies
Familial episodic pain syndrome
Familial episodic pain syndrome with predominantly lower limb involvement
Familial episodic pain syndrome with predominantly upper body involvement
Familial erythrocytosis
Familial expansile osteolysis
Familial exudative vitreoretinopathy
Familial focal epilepsy with variable foci
Familial fundic gland polyposis with gastric cancer
Familial gastric type 1 neuroendocrine tumor
Familial generalized lentiginosis
Familial gestational hyperthyroidism
Familial glucocorticoid deficiency
Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
Familial gonadotropin-independent male-limited sexual precocity
Familial GPIHBP1 deficiency
Familial hemophagocytic lymphohistiocytosis
Familial Hibernian fever
Familial HLH
Familial hollow visceral myopathy
Familial hyperaldosteronism
Familial hyperaldosteronism type 1
Familial hyperaldosteronism type 2
Familial hyperaldosteronism type 3
Familial hyperaldosteronism type I
Familial hyperaldosteronism type II
Familial hyperaldosteronism type III
Familial hyperalphalipoproteinemia
Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
Familial hypercholanemia
Familial hyperestrogenism
Familial hyperinsulinemic hypoglycemia
Familial hyperinsulinism
Familial hyperkalemic hypertension
Familial hyperkalemic periodic paralysis
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Familial hyperPP
Familial hyperprolactinemia
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypoaldosteronism
Familial hypoalphalipoproteinemia
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Familial hypospadias
Familial IBSN
Familial idiopathic dilatation of the right atrium
Familial idiopathic nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial infantile bilateral striatal necrosis
Familial infantile gigantism
Familial infantile gigantism due to a point mutation
Familial infantile gigantism due to dup(X)q(26)
Familial infantile gigantism due to Xq26 microduplication
Familial infantile hypercalcemia with suppressed intact parathyroid hormone
Familial infantile myoclonic epilepsy
Familial infantile myoclonus epilepsy
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
Familial intestinal malrotation
Familial intestinal polyatresia syndrome
Familial intestinal polyposis
Familial intracranial saccular aneurysm
Familial intrahepatic cholestasis
Familial isolated arrhythmogenic right ventricular cardiomyopathy
Familial isolated arrhythmogenic right ventricular dysplasia
Familial isolated arrhythmogenic ventricular cardiomyopathy
Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, classic form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated ARVC
Familial isolated ARVD
Familial isolated clinodactyly of fingers
Familial isolated congenital asplenia
Familial isolated dilated cardiomyopathy
Familial isolated hyperparathyroidism
Familial isolated hypoparathyroidism
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial isolated pituitary adenoma
Familial isolated prolactin receptor deficiency
Familial isolated restrictive cardiomyopathy
Familial isolated trichomegaly
Familial isolated vitamin E deficiency
Familial joint instability syndrome
Familial joint laxity
Familial juvenile gigantomastia
Familial juvenile hypertrophy of the breast
Familial juvenile hyperuricemic nephropathy type 2
Familial keratoacanthoma
Familial keratoconus with cataract
Familial lambdoid synostosis
Familial LCAT deficiency
Familial leiomyomatosis and renal cell cancer
Familial leiomyomatosis cutis et uteri
Familial leiomyomatosis with renal carcinoma
Familial Lenègre disease
Familial lentigines profusa
Familial Lev disease
Familial Lev-Lenègre disease
Familial lipase maturation factor 1 deficiency
Familial lipoprotein lipase deficiency
Familial LMF1 deficiency
Familial long QT syndrome
Familial macular edema
Familial male-limited precocious puberty
Familial median cleft of the upper and lower lips
Familial Mediterranean fever
Familial medullary thyroid carcinoma
Familial megaloblastic anemia
Familial melanoma
Familial mesial temporal lobe epilepsy with febrile seizures
Familial mitral valve prolapse
Familial MNG
Familial monosomy 7 syndrome
Familial MTC
Familial multinodular goiter
Familial multiple coagulation factor deficiency
Familial multiple cutaneous leiomyomas
Familial multiple discoid fibromas
Familial multiple lentigines syndrome
Familial multiple lentigines syndrome without systemic involvement
Familial multiple lipomatosis
Familial multiple meningioma
Familial multiple nevi flammei
Familial multiple port-wine stains
Familial multiple trichodiscomas
Familial multiple trichoepithelioma
Familial nasal acilia
Familial non-immune hyperthyroidism
Familial nonmedullary thyroid carcinoma
Familial nonpolyposis colon cancer
Familial nonpolyposis colorectal cancer
Familial normophosphatemic tumoral calcinosis
Familial omphalocele syndrome with facial dysmorphism
Familial or idiopathic dilated cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
Familial or sporadic hemiplegic migraine
Familial orthostatic tachycardia due to norepinephrine transporter deficiency
Familial ossifying fibroma
Familial osteochondritis dissecans
Familial osteodysplasia, Anderson type
Familial osteoectasia
Familial osteonecrosis of the femoral head
Familial osteosclerosis with abnormalities of the nervous system and meninges
Familial ovarian cancer
Familial ovarian malignant tumor
Familial pancreatic cancer
Familial pancreatic carcinoma
Familial papillary or follicular thyroid carcinoma
Familial papillary thyroid carcinoma with renal papillary neoplasia
Familial parathyroid adenoma
Familial parathyroids hyperplasia
Familial paroxysmal ataxia
Familial paroxysmal kinesigenic dyskinesia
Familial paroxysmal polyserositis
Familial paroxysmal ventricular fibrillation, non Brugada type
Familial partial epilepsy
Familial partial epilepsy with variable foci
Familial partial lipodystrophy
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Familial partial lipodystrophy type 1
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type 3
Familial patent arterial duct
Familial PCCD
Familial pelvis-scapular dysplasia
Familial pheochromocytoma-paraganglioma
Familial PKD
Familial platelet disorder with associated myeloid malignancy
Familial platelet disorder with predisposition to acute myelogenous leukemia
Familial platelet disorder with predisposition to myeloid malignancy
Familial platelet disorder with propensity to acute myeloid leukemia
Familial polymorphous light eruption of American Indians
Familial polyposis coli
Familial polyposis coli due to monosomy 5q22.2
Familial porencephaly
Familial porphyria cutanea tarda
Familial primary hyperparathyroidism
Familial primary hypomagnesemia
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Familial primary hypomagnesemia with hypocalcuria
Familial primary hypomagnesemia with normocalciuria and normocalcemia
Familial primary hypomagnesemia with normocalcuria
Familial primary localized cutaneous amyloidosis
Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type
Familial prion disease
Familial progressive cardiac conduction defect
Familial progressive heart block
Familial progressive hyper- and hypopigmentation
Familial progressive hyperpigmentation
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Familial progressive subcortical gliosis
Familial prostate cancer
Familial pseudohyperkalemia
Familial pterygium of the conjunctiva
Familial pulmonary arterial hypertension
Familial pure nonmedullary thyroid carcinoma
Familial pyrimidinemia
Familial reactive perforating collagenosis
Familial rectal pain
Familial recurrent arthritis
Familial recurrent Bell palsy
Familial recurrent peripheral facial palsy
Familial renal amyloidosis
Familial renal amyloidosis due to apolipoprotein A-II variant
Familial renal amyloidosis due to apolipoprotein A-I variant
Familial renal amyloidosis due to lysozyme variant
Familial renal glucosuria
Familial restrictive cardiomyopathy
Familial retinal arterial macroaneurysm
Familial rhabdoid tumor
Familial scaphocephaly-radioulnar synostosis syndrome
Familial scaphocephaly syndrome
Familial scaphocephaly syndrome, McGillivray type
Familial Scheuermann disease
Familial Scheuermann juvenile kyphosis
Familial schizencephaly
Familial short QT syndrome
Familial sick sinus syndrome
Familial SLE
Familial spastic paraplegia
Familial spinal osteochondrosis
Familial spontaneous pneumothorax
Familial startle disease
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial streblodactyly with amino-aciduria
Familial supernumerary nipples
Familial syringomyelia
Familial systemic lupus erythematosus
Familial TAAD
Familial temporal lobe epilepsy
Familial thoracic aortic aneurysm and aortic dissection
Familial thrombocythemia
Familial thrombocytopenia with propensity to acute myelogenous leukemia
Familial thrombocytosis
Familial thrombocytosis with transverse limb defect
Familial thrombomodulin anomalies
Familial thyroglossal duct cyst
Familial thyroid dyshormonogenesis
Familial transthyretin-related amyloidosis
Familial trembling of the chin
Familial TTP
Familial TTR-related amyloidosis
Familial tumoral calcinosis
Familial vesicoureteral reflux
Familial visceral myopathy
Familial vocal cord dysfunction
Familial VUR
Familial woolly hair syndrome
Familial wooly hair syndrome
FAMMM syndrome
FAMM-PC syndrome
Fanconi anemia
Fanconi-Bickel disease
Fanconi pancytopenia
FAP
FAP due to monosomy 5q22.2
Fara-Chlupackova syndrome
Farber disease
Farber lipogranulomatosis
Farmer’s lung disease
FAS
FASD
FASPS
FASTKD2-related infantile mitochondrial encephalomyopathy
Fatal congenital hypertrophic cardiomyopathy due to glycogenosis
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Fatal congenital hypertrophic cardiomyopathy due to GSD
Fatal familial insomnia
Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency
Fatal infantile COX deficiency
Fatal infantile cytochrome C oxidase deficiency
Fatal infantile encephalopathy with mitochondrial respiratory chain defects
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Fatal infantile hypertonic myofibrillar myopathy
Fatal infantile lactic acidosis with methylmalonic aciduria
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Fatal mitochondrial disease due to COXPD3
Fatal post-viral neurodegenerative disorder
FATCO syndrome
Fatty acid alcohol oxidoreductase deficiency
Fatty acid hydroxylase-associated neurodegeneration
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Faulk-Epstein-Jones syndrome
FBH
FBHH
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
FBPase deficiency
FCAS
FCAS2
FCCTX
FCD
FCD type I
FCD type Ia
FCD type Ib
FCD type Ic
FCD type II
FCD type IIa
FCD type IIb
FCMD
FCMTE
FCS syndrome
FCU
FD
FDFM
FDGC
FDLAB syndrome
Febrile infection-related epilepsy syndrome
FECD
FED
Feer disease
Fehr corneal dystrophy
Feigenbaum-Bergeron-Richardson syndrome
Feingold syndrome
Feingold syndrome type 1
Feingold syndrome type 2
Fellman disease
Felty syndrome
Female infertility due to an implantation defect of genetic origin
Female infertility due to oocyte meiotic arrest
Female infertility due to zona pellucida defect
Female restricted epilepsy with intellectual disability
Femoral agenesis/hypoplasia
Femoral-facial syndrome
Femoral head epiphysiolysis
Femoral hypoplasia-unusual facies syndrome
Femoral intercalary meromelia
Femorotibiofibular intercalary transverse meromelia
Femur-fibula-ulna complex
Femur-fibula-ulna dysostosis
Femur-fibula-ulna syndrome
Fenestrae parietales symmetricae
FENIB
Fenton-Wilkinson-Toselano syndrome
FEOM
FEPS
Ferguson-Smith disease
Ferlini-Ragno-Calzolari syndrome
Ferritin-related neurodegeneration
Ferro-cerebro-cutaneous syndrome
Ferroportin disease
Fetal acitretin/etretinate syndrome
Fetal AEDS
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fetal akinesia deformation sequence
Fetal alcohol spectrum disorders
Fetal alcohol syndrome
Fetal aminopterin syndrome
Fetal anasarca
Fetal and neonatal alloimmune thrombocytopenia
Fetal anticonvulsant syndrome
Fetal antiepileptic drug syndrome
Fetal carbamazepine syndrome
Fetal cocaine syndrome
Fetal cytomegalovirus syndrome
Fetal dihydantoin syndrome
Fetal encasement syndrome
Fetal face syndrome
Fetal Gaucher disease
Fetal hydantoin syndrome
Fetal hydrops
Fetal indomethacin syndrome
Fetal iodine syndrome
Fetal left ventricular aneurysm
Fetal lower urinary tract obstruction
Fetal lung interstitial tumor
Fetal methylmercury syndrome
Fetal minoxidil syndrome
Fetal-onset olivopontocerebellar hypoplasia
Fetal parvovirus syndrome
Fetal rubella syndrome
Fetal thalidomide syndrome
Fetal trimethadione syndrome
Fetal valproate syndrome
Fetal valproic acid syndrome
Feto-fetal transfusion syndrome
Fetomaternal alloimmunization with antenatal glomerulopathies
Fever-associated acute infantile liver failure syndrome
Fever-induced refractory epileptic encephalopathy in school-aged children
FEVR
FFA
FFDD
FFDD1
FFDD2
FFDD3
FFDD4
FFDD type I
FFDD type II
FFDD type III
FFDD type IV
FFEVF
FFS
FFU complex
FGFR2-related bent bone dysplasia
FGFR3-related chondrodysplasia
FGLDS
FGLDS1
FGLDS2
FG syndrome type 1
FH
FH1
FH2
FH3
FHCC
FHH
FHHNC
FHHNC without severe ocular involvement
FHHNC with severe ocular involvement
FHH type 1
FHH type 2
FHH type 3
FH-I
FHI
FHI
FH-II
FH-III
FHONDA syndrome
FHUFS
Fibrillary astrocytoma
Fibrinogen A alpha-chain amyloidosis
Fibrinous bronchitis
Fibrin-stabilizing factor deficiency
Fibroblastic rheumatism
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrofolliculomas with trichodiscomas and acrochordons
Fibrohistiocytic inflammatory pseudotumor of the liver
Fibrolamellar hepatocarcinoma
Fibrolamellar hepatocellular carcinoma
Fibromyxosarcoma
Fibronectin glomerulopathy
Fibrosarcoma
Fibrosing mediastinitis
Fibrous dysplasia of bone
Fibular aplasia-complex brachydactyly syndrome
Fibular aplasia-ectrodactyly syndrome
Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
Fibular dimelia-diplopodia syndrome
Fibular hemimelia
Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome
Fibular longitudinal meromelia
Fibulo-ulnar hypoplasia-renal anomalies syndrome
FIC1 deficiency
Fiessinger-Leroy disease
Fiessinger-Leroy-Reiter syndrome
Figuera syndrome
FIHPT
Filamin A-related X-linked myxomatous valvular dysplasia
Filamin-related bone disorder
Filariasis
Filippi syndrome
FILS syndrome
FIME
Fine-Lubinsky syndrome
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Fingerprint body myopathy
Finkel disease
Finlay-Marks syndrome
Finnish congenital nephrosis
Finnish tibial muscular dystrophy
Finnish upper limb-onset distal myopathy
Finucane-Kurtz-Scott syndrome
FIPA
FIRES
First branchial arch syndrome
First branchial cleft anomaly
First branchial cleft cyst
First branchial cleft fistula
Fisher syndrome
Fish-eye disease
Fistulous vegetative verrucous hydradenoma
Fitzsimmons-McLachlan-Gilbert syndrome
Fitzsimmons-Walson-Mellor syndrome
Fixed drug eruption
Fixed subaortic stenosis
FJHN type 2
FKBP14-related EDS
FKBP22-deficient EDS
Flat face-microstomia-ear anomaly syndrome
FLD
Flea-borne typhus
Fleck corneal dystrophy
Flegel disease
FLIT
FLNA-related valvular dystrophy
FLNA-related X-linked myxomatous valvular dysplasia
Floating-Harbor syndrome
Florid cemento-osseous dysplasia
Florid osseous dysplasia
FLOTCH syndrome
FLP
Flucloxacilline toxicity
Fluctuating myotonia
Fluke infection
Flynn-Aird syndrome
FMAIG
FMF
FMNG
FMPP
FNAIT
FNMTC
Foamy myocardial transformation of infancy
FOAR syndrome
Focal acral hyperkeratosis
Focal cemento-osseous dysplasia
Focal dermal hypoplasia
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome
Focal facial dermal dysplasia
Focal facial dermal dysplasia 1, Brauer type
Focal facial dermal dysplasia 2, Brauer-Setleis type
Focal facial dermal dysplasia 3, Setleis type
Focal facial dermal dysplasia 4
Focal facial dermal dysplasia type 1
Focal facial dermal dysplasia type I
Focal facial dermal dysplasia type II
Focal facial dermal dysplasia type III
Focal facial dermal dysplasia type IV
Focal facial preauricular dysplasia
Focal keratosis palmoplantaris
Focal myoclonus of face
Focal myositis
Focal nodular myositis
Focal palmoplantar and gingival hyperkeratosis
Focal palmoplantar and gingival keratoderma
Focal palmoplantar hyperkeratosis
Focal palmoplantar keratoderma
Focal palmoplantar keratoderma with joint keratoses
Focal PPK
Focal, segmental or multifocal dystonia
Focal stiff limb syndrome
Focal stiff-person syndrome
Foix-Alajouanine syndrome
Foix-Chavany-Marie syndrome
Folinic acid-responsive seizures
Follicular atrophoderma and basal cell carcinomas
Follicular atrophoderma-basal cell carcinoma
Follicular cholangitis and pancreatitis
Follicular dendritic cell sarcoma
Follicular dyskeratoma
Follicular lichen planus
Follicular lymphoma
Follicular pancreatocholangitis
Follicular stimulating hormone-resistant ovaries
Folliculitis ulerythematosa reticulate
Folliculotropic mycosis fungoides
Foodborne botulism
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
FOP
Foramina parietalia permagna
Forbes disease
Foregut duplication cyst of the tongue
Formiminoglutamic aciduria
Formiminotransferase cyclodeaminase deficiency
Forney-Robinson-Pascoe syndrome
Forney syndrome
Forsius-Eriksson syndrome
Forsius-Eriksson type ocular albinism
FOSMN syndrome
Fountain syndrome
Fourth branchial cleft anomaly
Fourth branchial cleft cyst
Fourth branchial cleft fistula
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Foveal hypoplasia-presenile cataract syndrome
Fowler-Christmas-Chapple syndrome
Fowler syndrome
FOXN1 deficiency
FOXP1 syndrome
FOXP2-associated dysphasia
FPAH
FPD/AML
FPDMM
FPHH
FPLCA
FPLD
FPLD1
FPLD2
FPLD3
FPLD4
FPLD5
FPLD6
FPS/AML
FPSG
FRA
Fragile X-associated tremor/ataxia syndrome
Fragile X syndrome
FRAM
Franceschetti-Klein syndrome
François dyscephalic syndrome
François-Neetens speckled corneal dystrophy
François syndrome
Franek-Bocker-Kahlen syndrome
Franklin disease
Frank-Ter Haar syndrome
Fraser syndrome
Frasier syndrome
FRAXA syndrome
FRAXE intellectual disability
FRAXF syndrome
FraX syndrome
FRDA
Freeman-Sheldon syndrome
Freeman-Sheldon syndrome variant
Free sialic acid storage disease
Free sialic acid storage disease, infantile form
Freire Maia-Pinheiro-Opitz syndrome
Freire-Maia syndrome
Fried-Goldberg-Mundel syndrome
Friedman-Goodman syndrome
Friedreich ataxia
Friedreich-like ataxia
Fried’s tooth and nail syndrome
Fried syndrome
Frontal encephalocele
Frontal fibrosing alopecia
Frontofacionasal dysplasia
Frontometaphyseal dysplasia
Frontonasal arteriovenous malformation
Frontonasal dysplasia
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Frontonasal dysplasia type 1
Frontonasal dysplasia type 2
Frontonasal dysplasia type 3
Frontonasal dysplasia with alopecia and genital abnomality
Frontorhiny
Frontotemporal degeneration with dementia
Frontotemporal dementia
Frontotemporal dementia, right temporal atrophy variant
Frontotemporal dementia with amyotrophic lateral sclerosis
Frontotemporal dementia with motor neuron disease
Frontotemporal neurodegeneration with movement disorder
Froster-Huch syndrome
Froster-Iskenius-Waterson-Hall syndrome
Fructokinase deficiency
Fructose-1,6-bisphosphatase deficiency
Fructose-1,6-diphosphatase deficiency
Frydman-Cohen-Karmon syndrome
Fryns-Hofkens-Fabry syndrome
Fryns macrocephaly
Fryns microphthalmia syndrome
Fryns-Smeets-Thiry syndrome
Fryns syndrome
FS
FS1
FS2
FSHD
FSH dystrophy
FSH-RO
F syndrome
FTCD deficiency
FTD
FTD-ALS
FTD-MND
FTH1-associated iron overload
FTH1-related iron overload
Fuchs endothelial corneal dystrophy
Fuchs heterochromic iridocyclitis
Fucosidosis
Fuhrmann-Rieger-de Sousa syndrome
Fuhrmann syndrome
Fukuhara syndrome
Fukuyama congenital muscular dystrophy
Fulminant hepatic failure
Fulminant viral hepatitis
Fumarase deficiency
Fumaric aciduria
Fumarylacetoacetase deficiency
Fumarylacetoacetate hydrolase deficiency
Functional methionine synthase deficiency
Functional methionine synthase deficiency type cblDv1
Functional methionine synthase deficiency type cblE
Functional methionine synthase deficiency type cblG
Functional neutrophil defect
Functional variant of GBS
Functional variant of Guillain-Barré syndrome
Functioning gonadotropic adenoma
Functioning neuroendocrine tumor of pancreas
Functioning pancreatic NET
Functioning pancreatic neuroendocrine tumor
Functioning pituitary adenoma
Functioning pituitary gonadotropic adenoma
Functioning PNET
Functioning well-differentiated NEN of pancreas
Functioning well-differentiated neuroendocrine neoplasm of pancreas
Functioning well-differentiated pancreatic NEN
Functioning well-differentiated pancreatic neuroendocrine neoplasm
Fundus albipunctatus
Fundus flavimaculatus
Fundus pulverulentus
Fungal keratitis
Fungal myositis
Furukawa-Takagi-Nakao syndrome
Furuncular myiasis
Furunculoid myiasis
Furunculous myiasis
Fusariosis
Fusarium infection
Fused mandibular incisors
Fusion of metacarpals 4 and 5
FV and FVIII combined deficiency
FXS
FXTAS syndrome