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- F syndrome
- F12-associated cold autoinflammatory syndrome
- F12-related HAE with normal C1 inhibitor
- F12-related hereditary angioedema with normal C1Inh
- F5F8D
- F9 deficiency, Leyden type
- FA
- Fabry disease
- FACAS
- 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-global developmental delay-hypotonia-polymicrogyria syndrome
- Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
- Facial dysmorphism-intellectual disability-short stature-deafness 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-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Facial granuloma of Lever
- Facial hemispasm
- Facial infused lipomatosis
- 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
- Facio-digito-genital syndrome, Kuwait type
- Facio-genito-popliteal syndrome
- Facio-oculo-acoustico-renal syndrome
- Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation
- Facio-pharyngo-glosso-masticatory diplegia
- Faciocardiorenal syndrome
- Faciocutaneoskeletal syndrome
- Faciodigitogenital syndrome
- Faciogenital dysplasia
- Facioscapulohumeral dystrophy
- Facioscapulohumeral muscular dystrophy
- Facioscapulohumeral myopathy
- FACS
- Factor IX deficiency, Leyden type
- Factor V Amsterdam bleeding disorder
- Factor V Atlanta bleeding disorder
- Factor V East Texas bleeding disorder
- Factor V Quebec
- Factor V short isoforms-related bleeding disorder
- 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 hypoplasia with absent pituitary LH
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone
- Familial adrenal hypoplasia, miniature type
- 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-I variant
- Familial amyloid nephropathy due to apolipoprotein A-II variant
- Familial amyloid nephropathy due to fibrinogen A alpha-chain variant
- Familial amyloid nephropathy due to lysozyme variant
- Familial amyloid polyneuropathy type IV
- Familial amyloidosis, Finnish type
- Familial anetoderma
- Familial angiolipomatosis
- Familial angioneurotic edema
- Familial aortic dissection
- Familial apoA-I deficiency
- Familial APOA5 deficiency
- Familial apoC-II deficiency
- Familial APOC2 deficiency
- Familial apolipoprotein A-V deficiency
- Familial apolipoprotein A5 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 syndrome
- Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
- Familial avascular necrosis of femoral head
- Familial BAV
- Familial benign cervical lipomatosis
- 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 calcium pyrophosphate deposition
- Familial CALMs isolated
- 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 Chilblain lupus
- Familial chylomicronemia 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 4
- 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 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 Gigantiform cementoma
- 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 hyperaldosteronism type IV
- Familial Hyperalphalipoproteinemia
- Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
- Familial hypercholanemia
- Familial hyperestrogenism
- Familial hyperinflammatory lymphoproliferative immunodeficiency
- 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 IBSN
- Familial idiopathic dilatation of the right atrium
- Familial idiopathic steroid-resistant nephrotic syndrome
- Familial infantile bilateral striatal necrosis
- Familial infantile gigantism
- 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 dysplasia
- Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
- Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form
- Familial isolated arrhytmogenic ventricular dysplasia, right dominant form
- Familial isolated café-au-lait macules
- Familial isolated café-au-lait spots
- Familial isolated CALSs
- 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 retinal arteriolar tortuosity
- 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
- Familial juvenile hyperuricemic nephropathy type 1
- Familial juvenile hyperuricemic nephropathy type 2
- Familial keratoacanthoma
- Familial keratoconus with cataract
- Familial LCAT deficiency
- Familial leiomyomatosis and renal cell cancer
- Familial leiomyomatosis cutis et uteri
- Familial leiomyomatosis with renal carcinoma
- Familial lentigines profusa
- Familial Lenègre disease
- 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 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 multinodular goiter syndrome
- 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 non-syndromic thoracic aortic aneurysm and aortic dissection
- 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 pancreatic cancer
- Familial pancreatic carcinoma
- Familial papillary or follicular thyroid carcinoma
- Familial papillary thyroid carcinoma with renal papillary neoplasia
- 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 type 1
- Familial partial lipodystrophy type 2
- Familial partial lipodystrophy type 3
- Familial partial lipodystrophy, Dunnigan type
- Familial partial lipodystrophy, Köbberling type
- Familial patent arterial duct
- Familial PCCD
- Familial pelvis-scapular dysplasia
- Familial peripheral male-limited precocious puberty
- 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 with hypercalciuria and nephrocalcinosis
- 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-I variant
- Familial renal amyloidosis due to apolipoprotein A-II variant
- Familial renal amyloidosis due to lysozyme variant
- Familial renal glucosuria
- Familial renal glycosuria
- Familial renal hypouricemia
- Familial restrictive cardiomyopathy
- Familial retinal arterial macroaneurysm
- Familial retinal arteriolar tortuosity
- Familial scaphocephaly syndrome
- Familial scaphocephaly syndrome, McGillivray type
- Familial scaphocephaly-radioulnar synostosis syndrome
- Familial schizencephaly
- Familial short QT syndrome
- Familial sick sinus syndrome
- Familial SLE
- Familial spastic paraplegia
- Familial spontaneous pneumothorax
- Familial startle disease
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness
- Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss
- 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
- FAMM-PC syndrome
- FAMMM syndrome
- Fanconi anemia
- Fanconi pancytopenia
- Fanconi-Bickel syndrome
- FAP
- FAP due to monosomy 5q22.2
- FAR1 deficiency
- Fara-Chlupackova syndrome
- Farber disease
- Farber lipogranulomatosis
- FAS
- Fasciolopsiasis
- FASD
- FASPS
- FASTKD2-related infantile mitochondrial encephalomyopathy
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- Fatal congenital hypertrophic cardiomyopathy due to glycogenosis
- 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 pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome
- Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
- 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
- Fatty acyl-CoA reductase 1 deficiency
- Fatty acyl-CoA reductase 1 superactivity
- Faulk-Epstein-Jones syndrome
- FBH
- FBHH
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- FBPase deficiency
- FCAS
- FCAS2
- FCAS4
- 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
- FD/MAS spectrum
- FD/MAS syndrome
- 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 head epiphysiolysis
- Femoral hypoplasia-unusual facies syndrome
- Femoral-facial syndrome
- 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 deformation sequence
- Fetal akinesia-cerebral and retinal hemorrhage syndrome
- 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 lower urinary tract obstruction
- Fetal lung interstitial tumor
- Fetal methylmercury poisoning
- Fetal methylmercury syndrome
- Fetal minoxidil syndrome
- Fetal parvovirus syndrome
- Fetal rubella syndrome
- Fetal thalidomide syndrome
- Fetal trimethadione syndrome
- Fetal valproate spectrum disorder
- 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
- FFDD type I
- FFDD type II
- FFDD type III
- FFDD type IV
- FFDD1
- FFDD2
- FFDD3
- FFDD4
- FFEVF
- FFI
- FFS
- FFU complex
- FG syndrome type 1
- FGFR2-related bent bone dysplasia
- FGFR3-related chondrodysplasia
- FGLDS
- FGLDS1
- FGLDS2
- FH
- FH-I
- FH-II
- FH-III
- FH1
- FH2
- FH3
- FH4
- FHCC
- FHEIG syndrome
- FHH
- FHH type 1
- FHH type 2
- FHH type 3
- FHHNC
- FHHNC with severe ocular involvement
- FHHNC without severe ocular involvement
- FHI
- FHI
- FHONDA syndrome
- FHUFS
- Fibrillary astrocytoma
- Fibrin-stabilizing factor deficiency
- Fibrinogen A alpha-chain amyloidosis
- Fibrinous bronchitis
- Fibroadipose infiltrating lipomatosis
- Fibroblastic rheumatism
- Fibrochondrogenesis
- Fibrodysplasia ossificans progressiva
- Fibrohistiocytic inflammatory pseudotumor of the liver
- Fibrolamellar hepatocarcinoma
- Fibrolamellar hepatocellular carcinoma
- Fibrolipomatous filum anomaly
- Fibromyxosarcoma
- Fibronectin glomerulopathy
- Fibroneural flat LDM
- Fibroneural flat limited dorsal myeloschisis
- Fibroneural non-saccular LDM
- Fibroneural non-saccular limited dorsal myeloschisis
- Fibrosarcoma
- Fibrosing mediastinitis
- Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
- Fibrotic hypersensitivity pneumonitis
- Fibrous dysplasia of bone
- Fibrous dysplasia/McCune-Albright spectrum
- Fibrous dysplasia/McCune-Albright syndrome
- Fibular aplasia-complex brachydactyly syndrome
- Fibular aplasia-ectrodactyly syndrome
- Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
- Fibular dimelia-diplopodia syndrome
- Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome
- Fibulo-ulnar hypoplasia-renal anomalies syndrome
- FIC1 deficiency
- Fiessinger-Leroy disease
- FIHPT
- Filamin A-related X-linked myxomatous valvular dysplasia
- Filamin C-related filaminopathy
- Filamin-related bone disorder
- Filariasis
- Filippi syndrome
- FILS syndrome
- FIME
- FINCA
- 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
- FIP
- FIPA
- FIRES
- First branchial cleft anomaly
- First branchial cleft cyst
- First branchial cleft fistula
- Fish-eye disease
- Fisher syndrome
- 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
- FKRP-related LGMD R9
- FKRP-related limb-girdle muscular dystrophy R9
- FKTN-related congenital muscular dystrophy
- Flat face-microstomia-ear anomaly syndrome
- Flat LDM
- FLD
- Flea-borne typhus
- Fleck corneal dystrophy
- Flegel disease
- FLIT
- FLNA-related valvular dystrophy
- FLNA-related X-linked myxomatous valvular dysplasia
- FLNC-associated myofibrillar myopathy
- Floating-Harbor syndrome
- Florid cemento-osseous dysplasia
- Florid osseous dysplasia
- FLOTCH syndrome
- FLP
- 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 intestinal perforation
- 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 stiff limb syndrome
- Focal stiff-person syndrome
- Focal, segmental or multifocal dystonia
- Fogo selvagem
- Foix-Alajouanine syndrome
- Foix-Chavany-Marie syndrome
- Folate receptor alpha deficiency
- Folinic acid-responsive seizures
- Follicular atrophoderma and basal cell carcinomas
- Follicular cholangitis and pancreatitis
- Follicular dendritic cell sarcoma
- Follicular dyskeratoma
- Follicular helper T-cell lymphoma, follicular type
- Follicular lichen planus
- Follicular lymphoma
- Follicular pancreatocholangitis
- Follicular T-cell Lymphoma
- Folliculitis ulerythematosa reticulate
- Folliculotropic mycosis fungoides
- Fontaine progeroid syndrome
- 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 syndrome
- Forney-Robinson-Pascoe 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 syndrome
- Fowler urethral sphincter dysfunction syndrome
- Fowler vasculopathy
- Fowler-Christmas-Chapple syndrome
- FOXG1 syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- FOXG1 syndrome due to intragenic alteration
- FOXG1-related epileptic-dyskinetic encephalopathy
- FOXP1 Syndrome
- FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
- FOXP2-associated dysphasia
- FPAH
- FPD/AML
- FPDMM
- FPHH
- FPLCA
- FPLD
- FPLD1
- FPLD2
- FPLD3
- FPLD4
- FPLD5
- FPLD6
- FPS/AML
- FPSG
- FRA
- Fragile X syndrome
- Fragile X-associated POF
- Fragile X-associated POI
- Fragile X-associated premature ovarian failure
- Fragile X-associated primary ovarian insufficiency
- Fragile X-associated tremor/ataxia syndrome
- Fragoso-Cantú syndrome
- FRAM
- Franceschetti-Klein syndrome
- Franek-Bocker-Kahlen syndrome
- Frank-Ter Haar syndrome
- Franklin disease
- François dyscephalic syndrome
- François syndrome
- François-Neetens speckled corneal dystrophy
- Fraser syndrome
- Frasier syndrome
- FraX syndrome
- FRAXA syndrome
- FRAXE intellectual disability
- FRAXF syndrome
- FRDA
- Free sialic acid storage disease
- Free sialic acid storage disease, infantile form
- Free sialic acid storage disorder
- Freeman-Burian syndrome
- Freeman-Sheldon syndrome
- Freeman-Sheldon syndrome variant
- Freiberg disease
- Freiberg infraction
- Freire Maia-Pinheiro-Opitz syndrome
- Freire-Maia syndrome
- Frey syndrome
- Fried syndrome
- Fried's tooth and nail syndrome
- Fried-Goldberg-Mundel syndrome
- Friedman-Goodman syndrome
- Friedreich ataxia
- Friedreich-like ataxia
- Frontal encephalocele
- Frontal fibrosing alopecia
- Frontofacionasal dysplasia
- Frontometaphyseal dysplasia
- Frontonasal arteriovenous malformation
- Frontonasal dysplasia
- Frontonasal dysplasia type 1
- Frontonasal dysplasia type 2
- Frontonasal dysplasia type 3
- Frontonasal dysplasia with alopecia and genital abnomality
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- Frontorhiny
- Frontotemporal degeneration with dementia
- Frontotemporal dementia
- 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 macrocephaly
- Fryns microphthalmia syndrome
- Fryns syndrome
- Fryns-Hofkens-Fabry syndrome
- Fryns-Smeets-Thiry syndrome
- FS
- FS1
- FS2
- FSASD
- FSH dystrophy
- FSHD
- FTCD deficiency
- FTD
- FTD-ALS
- FTD-MND
- FTH1-associated iron overload
- FTH1-related iron overload
- Fuchs endothelial corneal dystrophy
- Fuchs heterochromic iridocyclitis
- Fucosidosis
- Fuhrmann syndrome
- Fuhrmann-Rieger-de Sousa syndrome
- Fukuhara syndrome
- Fukutin-related LGMD R13
- Fukutin-related limb-girdle muscular dystrophy R13
- Fukuyama congenital muscular dystrophy
- Full neurofibromatosis type 2
- Full neurofibromatosis type 3
- Full NF2
- Full NF2-related schwannomatosis
- Full NF3
- Full schwannomatosis
- Full SWN
- Fully investigated rare disorder without a determined diagnosis
- 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 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
- Furuncular myiasis due to Cordylobia anthropophaga
- Furuncular myiasis due to Cordylobia rodhaini
- Furuncular myiasis due to Dermatobia hominis
- Furunculoid myiasis
- Furunculoid myiasis due to Cordylobia anthropophaga
- Furunculoid myiasis due to Cordylobia rodhaini
- Furunculoid myiasis due to Dermatobia hominis
- Furunculous myiasis
- Furunculous myiasis due to Cordylobia anthropophaga
- Furunculous myiasis due to Cordylobia rodhaini
- Furunculous myiasis due to Dermatobia hominis
- Fusariosis
- Fusarium infection
- Fused mandibular incisors
- Fusion of metacarpals 4 and 5
- FV Amsterdam bleeding disorder
- FV and FVIII combined deficiency
- FV Atlanta bleeding disorder
- FV East Texas bleeding disorder
- FV short isoforms-related bleeding disorder
- FXPOI
- FXS
- FXTAS syndrome