Rare Disease Directory D - F
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- D-2- @hydroxyglutaric aciduria
- Daentl Towsend Siegel syndrome
- Dahlberg Borer Newcomer syndrome
- Daish Hardman Lamont syndrome
- Dancing eyes-dancing feet syndrome
- Dandy Walker facial hemangioma
- Dandy Walker malformation postaxial polydactyly
- Dandy Walker syndrome
- Dandy Walker syndrome recessive form
- Dandy Walker variant
- Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures
- Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
- Daneman Davy Mancer syndrome
- Danubian endemic familial nephropathy
- Darier's disease
- Davenport Donlan syndrome
- Davis Lafer syndrome
- De Barsy syndrome
- De Hauwere Leroy Adriaenssens syndrome
- De Quervains' disease
- De Sanctis-Cacchione syndrome
- Deafness conductive ptosis skeletal anomalies
- Deafness conductive stapedial ear malformation facial palsy
- Deafness craniofacial syndrome
- Deafness enamel hypoplasia nail defects
- Deafness epiphyseal dysplasia short stature
- Deafness goiter stippled epiphyses
- Deafness hyperuricemia neurologic ataxia
- Deafness hypogonadism syndrome
- Deafness hypospadias metacarpal and metatarsal syndrome
- Deafness mesenteric diverticula of small bowel neuropathy
- Deafness mixed with perilymphatic Gusher, X-linked
- Deafness nephritis ano rectal malformation
- Deafness neurosensory pituitary dwarfism
- Deafness nonsyndromic, Connexin 26 linked
- Deafness oligodontia syndrome
- Deafness onychodystrophy dominant form
- Deafness peripheral neuropathy arterial disease
- Deafness progressive cataract autosomal dominant
- Deafness skeletal dysplasia lip granuloma
- Deafness vitiligo achalasia
- Deafness white hair contractures papillomas
- Deafness X-linked, DFN3
- Deafness, autosomal dominant nonsyndromic sensorineural 17
- Deafness, autosomal dominant nonsyndromic sensorineural 22
- Deafness, autosomal dominant nonsyndromic sensorineural 23
- Deafness, autosomal dominant nonsyndromic sensorineural 24
- Deafness, autosomal dominant nonsyndromic sensorineural 3
- Deafness, autosomal dominant nonsyndromic sensorineural 53
- Deafness, autosomal recessive 51
- Deafness, autosomal recessive 55
- Deafness, congenital onychodystrophy, recessive form
- Deafness, isolated, due to mitochondrial transmission
- Deafness, neurosensory nonsyndromic recessive, DFN
- Deafness, neurosensory, autosomal recessive 47
- Deafness, X-linked, DFN
- Deal Barratt Dillon syndrome
- Defect in synthesis of adenosylcobalamin
- Defective apolipoprotein B-100
- Degenerative motor system disease
- Degenerative optic myopathy
- Degos disease
- Degos 'en cocarde' erythrokeratoderma
- Dehydratase deficiency
- Delayed membranous cranial ossification
- Delayed speech facial asymetry strabismus ear lobe creases
- Deletion 6q16 q21
- Delleman Oorthuys syndrome
- Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
- Delta-sarcoglycanopathy
- Dementia, familial British
- Dementia, familial Danish
- Demodicidosis
- Demyelinating diseases
- Dengue fever
- Dennis Fairhurst Moore syndrome
- Dens in dente and palatal invaginations
- Dent disease 1
- Dentatorubral pallidoluysian atrophy
- Dentin dysplasia sclerotic bones
- Dentin dysplasia, coronal
- Dentin dysplasia, type 1
- Dentinogenesis imperfecta
- Dentinogenesis imperfecta, shields type 3
- Depersonalization disorder
- Der Kaloustian Mcintosh Silver syndrome
- Dermal eccrine cylindroma
- Dermatitis herpetiformis, familial
- Dermatocardioskeletal syndrome Boronne type
- Dermatofibroma
- Dermatofibrosarcoma protuberans
- Dermatoleukodystrophy
- Dermatomyositis
- Dermatoosteolysis Kirghizian type
- Dermatopathia pigmentosa reticularis
- Dermochondrocorneal dystrophy of François
- Dermoids of cornea
- Dermoodontodysplasia
- Desbuquois syndrome
- Desmin related myopathy
- Desmoid disease, hereditary
- Desmoid tumor
- Desmoplastic cerebral astrocytoma of infancy
- Desmoplastic infantile ganglioma
- Desmoplastic small round cell tumor
- Desmosterolosis
- Developmental delay hypotonia extremities hypertrophy
- Developmental dysphasia familial
- Devic disease
- Devriendt Legius Fryns syndrome
- Devriendt syndrome
- Devriendt Vandenberghe Fryns syndrome
- Dexamethasone sensitive hypertension
- Dextrocardia
- Dextrocardia with situs inversus
- Dextrocardia-bronchiectasis-sinusitis
- D-glycericacidemia
- Di Guglielmo's syndrome
- Diabetes hypogonadism deafness mental retardation
- Diabetes insipidus primary central
- Diabetes insipidus, diabetes mellitus, optic atrophy
- Diabetes insipidus, nephrogenic type 1
- Diabetes insipidus, nephrogenic type 2
- Diabetes insipidus, nephrogenic type 3
- Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification
- Diabetes insipidus, nephrogenic, dominant type
- Diabetes insipidus, nephrogenic, recessive type
- Diabetes mellitus, transient neonatal
- Diabetes persistent mullerian ducts
- Diabetic mastopathy
- Diamond-Blackfan anemia
- Dianzani autoimmune lymphoproliferative syndrome
- Diaphragmatic agenesia
- Diaphragmatic agenesis radial aplasia omphalocele
- Diaphragmatic defect limb deficiency skull defect
- Diaphragmatic hernia exomphalos corpus callosum agenesis
- Diaphragmatic hernia upper limb defects
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma
- Diarrhea chronic with villous atrophy
- Diarrhea polyendocrinopathy infections X-linked
- Diastematomyelia
- Diastrophic dysplasia
- Dibasic aminoaciduria 1
- Dibasic aminoaciduria 2
- Dicarboxylicaminoaciduria
- Die Smulders Droog Van Dijk syndrome
- Die Smulders Vles Fryns syndrome
- Diencephalic syndrome
- Dieterich's disease
- Diethylstilbestrol antenatal infection
- Diffuse neonatal hemangiomatosis
- Diffuse palmoplantar keratoderma, Bothnian type
- Diffuse panbronchiolitis
- Diffuse scleroderma
- Diffuse systemic sclerosis
- DiGeorge syndrome
- Digestive duplication
- Digitorenocerebral syndrome
- Dihydropyrimidine dehydrogenase deficiency
- Dilated cardiomyopathy
- Dimauro disease
- Dincsoy Salih Patel syndrome
- Dinno Shearer Weisskopf syndrome
- Diomedi Bernardi Placidi syndrome
- Dionisi Vici Sabetta Gambarara syndrome
- Diphallia
- Diphallus rachischisis imperforate anus
- Diphosphoglycerate mutase deficiency of erythrocyte
- Diphtheria
- Diprosopia
- Dislocation of the hip dysmorphism
- Dissecting cellulitis of the scalp
- Disseminated infection with mycobacterium avium complex
- Dissociative hysteria
- Distal arthrogryposis Moore Weaver type
- Distal myopathy
- Distal myopathy Markesbery-Griggs type
- Distal myopathy with vocal cord weakness
- Distal myopathy, Nonaka type
- Distal primary acidosis, familial
- Distichiasis heart congenital anomalies
- Distomatosis
- Dk phocomelia syndrome
- D-minus hemolytic uremic syndrome (D-HUS)
- Dobrow syndrome
- Dominant cleft palate
- Dominant ichthyosis vulgaris
- Donnai Barrow syndrome
- Donovanosis
- Dopamine beta hydroxylase deficiency
- Dosage-sensitive sex reversal
- Double cortex syndrome
- Double discordia
- Double fingernail of fifth finger
- Double nails on the fifth toe
- Double outlet left ventricle
- Double outlet right ventricle
- Double tachycardia induced by catecholamines
- Double uterus-hemivagina-renal agenesis
- Dowling-Degos disease
- Doxorubicin induced cardiomyopathy
- Doyne honeycomb retinal dystrophy
- D-plus hemolytic uremic syndrome (D+HUS)
- Drachtman Weinblatt Sitarz syndrome
- Dracunculiasis
- Dravet syndrome
- Duane anomaly mental retardation
- Duane retraction syndrome 1
- Duane retraction syndrome 2
- Duane-radial ray syndrome
- Dubin-Johnson syndrome
- Dubowitz syndrome
- Duchenne muscular dystrophy
- Duhring Brocq disease
- Duhring's disease
- Duker Weiss Siber syndrome
- Duodenal atresia
- Duodenal atresia tetralogy of Fallot
- Duodenal ulcer due to antral G-cell hyperfunction
- Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
- Duplication of leg mirror foot
- Duplication of the thumb unilateral biphalangeal
- Duplication of urethra
- Dupont Sellier Chochillon syndrome
- Dupuytren subungual exostosis
- Dwarfism
- Dwarfism bluish sclerae
- Dwarfism deafness retinitis pigmentosa
- Dwarfism lethal type advanced bone age
- Dwarfism short limb absent fibulas very short digits
- Dwarfism stiff joint ocular abnormalities
- Dwarfism syndesmodysplasic
- Dwarfism tall vertebrae
- Dwarfism thin bones multiple fractures
- Dyggve-Melchior-Clausen syndrome
- Dykes Markes Harper syndrome
- Dysautonomia like disorder
- Dyschondrosteosis nephritis
- Dyschromatosis symmetrica hereditaria 1
- Dyschromatosis universalis hereditaria
- Dysequilibrium syndrome
- Dyserythropoietic anemia, congenital
- Dyserythropoietic anemia, congenital type 1
- Dyserythropoietic anemia, congenital type 2
- Dyserythropoietic anemia, congenital type 3
- Dysesthetic Vulvodynia
- Dysferlinopathy
- Dysfibrinogenemia, familial
- Dysgerminoma
- Dysgnathia complex
- Dysharmonic skeletal maturation muscular fiber disproportion
- Dyskeratosis congenita
- Dyskeratosis congenita of Zinsser Cole Engman
- Dyskeratosis follicularis
- Dyskinesia, drug induced
- Dysmorphism abnormal vocalization mental retardation
- Dysmorphism cleft palate loose skin
- Dysmyelination
- Dysosteosclerosis
- Dysostosis
- Dysostosis acral with facial and genital abnormalities
- Dysostosis peripheral
- Dysostosis Stanescu type
- Dysphasic dementia, hereditary
- Dysphonia, chronic spasmodic
- Dysplasia epiphysealis hemimelica
- Dysplastic cortical hyperostosis
- Dysplastic nevus syndrome
- Dysprothrombinemia
- Dysraphism cleft lip palate limb reduction defects
- Dyssegmental dysplasia
- Dyssegmental dysplasia glaucoma
- Dyssegmental dysplasia, Rolland-Desbuquois type
- Dystelephalangy
- Dystonia 12
- Dystonia 15, myoclonic
- Dystonia 6, torsion
- Dystonia musculorum deformans 4
- Dystonia musculorum deformans type 1
- Dystonia musculorum deformans type 2
- Dystonia, Dopa-responsive
- Dystrophic epidermolysis bullosa
- Dystrophinopathy
- Eagle's syndrome
- Eales disease
- Ear, patella, short stature syndrome
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
- Ebola virus disease
- Ebstein's anomaly
- Eccentrochondrodysplasia
- Eccrine acrospiroma
- Eccrine mucinous carcinoma
- Eclampsia
- Ecp syndrome
- Ectodermal dysplasia
- Ectodermal dysplasia 2, hidrotic
- Ectodermal dysplasia adrenal cyst
- Ectodermal dysplasia alopecia preaxial polydactyly
- Ectodermal dysplasia anhidrotic
- Ectodermal dysplasia arthrogryposis diabetes mellitus
- Ectodermal dysplasia Bartalos type
- Ectodermal dysplasia Berlin type
- Ectodermal dysplasia blindness
- Ectodermal dysplasia ectrodactyly macular dystrophy
- Ectodermal dysplasia Margarita type
- Ectodermal dysplasia mental retardation CNS malformation
- Ectodermal dysplasia mental retardation syndactyly
- Ectodermal dysplasia neurosensory deafness
- Ectodermal dysplasia osteosclerosis
- Ectodermal dysplasia tricho odonto onychial type
- Ectodermal dysplasia, hidrotic, Christianson-Fourie type
- Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- Ectodermal dysplasia/ skin fragility syndrome
- Ectodermic dysplasia anhidrotic cleft lip
- Ectopia lentis isolated
- Ectopia pupillae
- Ectopic coarctation
- Ectopic ossification familial type
- Ectopic pregnancy
- Ectrodactyly
- Ectrodactyly cardiopathy dysmorphism
- Ectrodactyly cleft palate syndrome
- Ectrodactyly dominant form
- Ectrodactyly ectrodermal dysplasia
- Ectrodactyly polydactyly
- Ectrodactyly recessive form
- Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
- Ectropion inferior cleft lip and or palate
- Edinburgh malformation syndrome
- Edwards Patton Dilly syndrome
- Edwards syndrome
- EEC syndrome
- Eec syndrome without cleft lip palate
- EEM syndrome
- Egg shaped pupils
- Ehlers Danlos syndrome type 4, autosomal dominant
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome 6B
- Ehlers-Danlos syndrome caused by tenascin-X deficiency
- Ehlers-Danlos syndrome type 1
- Ehlers-Danlos syndrome type 2
- Ehlers-Danlos syndrome type 3
- Ehlers-Danlos syndrome type 5
- Ehlers-Danlos syndrome type 6
- Ehlers-Danlos syndrome type 7B
- Ehlers-Danlos syndrome type 7C
- Ehlers-Danlos syndrome, arthrochalasic type
- Ehlers-Danlos syndrome, Beasley Cohen type
- Ehlers-Danlos syndrome, cardiac valvular form
- Ehlers-Danlos syndrome, classic type
- Ehlers-Danlos syndrome, dermatosparaxis type
- Ehlers-Danlos syndrome, hypermobile type
- Ehlers-Danlos syndrome, progeroid form
- Ehlers-Danlos syndrome, type 10
- Ehlers-Danlos syndrome, type VII, autosomal dominant
- Ehrlichiosis
- Eisenmenger syndrome
- Elastosis perforans serpiginosa
- Elective mutism
- Electron transfer flavoprotein, deficiency of
- Elejalde syndrome
- Elephant man in context of NF
- Elliott Ludman Teebi syndrome
- Ellis Yale Winter syndrome
- Emanuel syndrome
- Emanuel syndrome
- Embryonal sarcoma
- Emerinopathy
- Emery Nelson syndrome
- Emery-Dreifuss muscular dystrophy
- Emery-Dreifuss muscular dystrophy, dominant type
- Emery-Dreifuss muscular dystrophy, X-linked
- Emphysema, congenital lobar
- Empty sella syndrome
- Enamel hypoplasia cataract hydrocephaly
- Encephalitis lethargica
- Encephalocele
- Encephalocele anencephaly
- Encephalocele anterior
- Encephalocele frontal
- Encephalocraniocutaneous lipomatosis
- Encephalomyelitis
- Encephalopathy intracerebral calcification retinal
- Encephalopathy progressive optic atrophy
- Encephalopathy recurrent of childhood
- Encephalopathy, ethylmalonic
- Encephalopathy-basal ganglia-calcification
- Enchondromatosis (benign)
- Enchondromatosis dwarfism deafness
- Endemic Kaposi sarcoma
- Endocardial fibroelastosis
- Endocarditis
- Endocarditis, infective
- Endocrinopathy
- Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease
- Endometrial stromal sarcoma
- Endomyocardial fibroelastosis
- Endomyocardial fibrosis
- Eng Strom syndrome
- Engelhard Yatziv syndrome
- Enlarged vestibular aqueduct syndrome
- Enolase deficiency
- Enolase deficiency type 1
- Enolase deficiency type 2
- Enolase deficiency type 3
- Enolase deficiency type 4
- Enterobiasis
- Enteropathica
- Enteropathy-associated T-cell lymphoma
- Enterovirus antenatal infection
- Envenomization by bothrops lanceolatus
- Envenomization by the Martinique lancehead viper
- Environment associated hypertension
- Eosinophilia-myalgia syndrome
- Eosinophilic cryptitis
- Eosinophilic cystitis
- Eosinophilic enteropathy
- Eosinophilic fasciitis
- Eosinophilic granuloma
- Eosinophilic lymphogranuloma
- Eosinophilic pustular folliculitis
- Eosinophilic synovitis
- Ependymoblastoma
- Ependymoma
- Epidemic encephalitis
- Epidemic encephalomyelitis
- Epidermal nevus vitamin D resistant rickets
- Epidermodysplasia verruciformis
- Epidermoid carcinoma
- Epidermolysa bullosa simplex and limb girdle muscular dystrophy
- Epidermolysis bullosa
- Epidermolysis bullosa acquisita
- Epidermolysis bullosa dystrophica, Bart type
- Epidermolysis bullosa dystrophica, dominant type
- Epidermolysis bullosa dystrophica, Pasini type
- Epidermolysis bullosa herpetiformis, Dowling-Meara
- Epidermolysis bullosa intraepidermic
- Epidermolysis bullosa inversa dystrophica
- Epidermolysis bullosa letalis
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex, Cockayne-Touraine type
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Ogna type
- Epidermolysis bullosa with pyloric atresia
- Epidermolysis bullosa, dermolytic
- Epidermolysis bullosa, generalized atrophic benign
- Epidermolysis bullosa, junctional
- Epidermolysis bullosa, junctional, with pyloric atrophy
- Epidermolysis bullosa, late-onset localized junctional, with mental retardation
- Epidermolysis bullosa, lethal acantholytic
- Epidermolysis bullosa, pretibial
- Epilepsy benign neonatal dominant form
- Epilepsy benign neonatal recessive form
- Epilepsy juvenile absence
- Epilepsy mental deterioration Finnish type
- Epilepsy microcephaly skeletal dysplasia
- Epilepsy occipital calcifications
- Epilepsy progressive myoclonic type 3
- Epilepsy telangiectasia
- Epilepsy with myoclono-astatic crisis
- Epilepsy, benign occipital
- Epilepsy, myoclonic progressive familial
- Epilepsy, nocturnal, frontal lobe type
- Epilepsy, partial, familial
- Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
- Epileptic encephalopathy, Lennox-Gastaut type
- Epimerase deficiency
- Epimetaphyseal dysplasia cataract
- Epimetaphyseal skeletal dysplasia
- Epiphyseal dysplasia dysmorphism camptodactyly
- Epiphyseal dysplasia hearing loss dysmorphism
- Epiphyseal dysplasia, multiple, 1
- Epiphyseal dysplasia, multiple, 2
- Epiphyseal dysplasia, multiple, 3
- Epiphyseal dysplasia, multiple, 4
- Epiphyseal dysplasia, multiple, 5
- Episodic Ataxia syndrome
- Episodic ataxia with nystagmus
- Epithelial-myoepithelial carcinoma
- Epithelioid sarcoma
- Epitheliopathy, acute posterior multifocal placoid
- Epstein Barr virus, chronic
- Epstein syndrome
- Erdheim disease
- Erdheim-Chester syndrome
- Ermine phenotype
- Eronen Somer Gustafsson syndrome
- Erosive pustular dermatosis of the scalp
- Erysipelas
- Erythema elevatum diutinum
- Erythema multiforme
- Erythema nodosum, familial
- Erythema nodosum, idiopathic
- Erythermalgia
- Erythroblastopenia
- Erythroderma desquamativa of Leiner
- Erythroderma lethal congenital
- Erythrokeratodermia ataxia
- Erythrokeratodermia progressive symmetrica ichthyosis
- Erythrokeratodermia symmetrica progressiva
- Erythrokeratodermia variabilis ichthyosis
- Erythrokeratodermia variabilis, Mendes da Costa type
- Erythrokeratodermia with ataxia
- Erythromelalgia
- Erythroplakia
- Erythropoietic protoporphyria
- Escher Hirt syndrome
- Escobar syndrome, type B
- Esophageal atresia
- Esophageal atresia associated anomalies
- Esophageal atresia coloboma talipes
- Esophageal cancer
- Esophageal cancer childhood
- Esophageal disorder
- Esophageal duodenal atresia abnormalities of hands
- Esophageal varices
- Esotropia
- Essential hypertension
- Essential iris atrophy
- Essential mixed cryoglobulinemia
- Essential thrombocytopenia
- Essential thrombocytosis
- Esthesioneuroblastoma
- Euhidrotic ectodermal dysplasia
- Eunuchoidism, familial hypogonadotropic
- Evans syndrome
- Ewing's family of tumors
- Ewing's sarcoma
- Exencephaly
- Exercise induced anaphylaxis
- Exfoliative dermatitis
- Exogenous lipoid pneumonia
- Exostoses
- Exostoses anetodermia brachydactyly type E
- Exostoses, multiple
- Exostoses, multiple, type 1
- Exostoses, multiple, type 2
- Exostoses, multiple, type 3
- Exstrophy of the bladder
- Exstrophy of the bladder-epispadias
- Exsudative retinopathy familial, autosomal dominant
- Exsudative retinopathy familial, autosomal recessive
- Exsudative retinopathy familial, X-linked, recessive
- Exsudative retinopathy, familial
- Extracranial germ cell tumor, childhood
- Extragonadal Germ Cell Tumor
- Extramammary Paget disease
- Extrasystoles short stature hyperpigmentation microcephaly
- Exudative vitreoretinopathy 1
- Eye defects arachnodactyly cardiopathy
- Eyebrows duplication of, with stretchable skin and syndactyly
- FACES syndrome
- Facial asymetry temporal seizures
- Facial clefting corpus callosum agenesis
- Facial dysmorphism macrocephaly myopia Dandy Walker type
- Facial dysmorphism shawl scrotum joint laxity syndrome
- Facial ectodermal dysplasia
- Facial paresis, hereditary, congenital
- Facies unusual arthrogryposis advanced skeletal malformations
- Facio digito genital syndrome recessive form
- Facio skeletal genital syndrome Rippberger type
- Facio thoraco genital syndrome
- Faciocardiomelic dysplasia lethal
- Faciocardiorenal syndrome
- Faciomandibular myoclonus, nocturnal
- Faciooculoacousticorenal syndrome
- Facioscapulohumeral muscular dystrophy 1a
- Factor 2 deficiency
- Factor 7 deficiency
- Factor V deficiency
- Factor V Leiden thrombophilia
- Factor X deficiency
- Factor X deficiency, congenital
- Factor XI deficiency, congenital
- Factor XII deficiency
- Fairbank disease
- Fallopian tube cancer
- Fallot complex with severe mental and growth retardation
- Fallot tetralogy
- Familial adenomatous polyposis
- Familial amyloid polyneuropathy
- Familial aortic dissection
- Familial arteriosclerotic leukoencephalopathy, alopecia, lumbago without arterial hypertension
- Familial band heterotopia
- Familial capillaro-venous leptomeningeal angiomatosis
- Familial cerebral cavernous malformation
- Familial cold autoinflammatory syndrome
- Familial colorectal Cancer
- Familial congenital fourth cranial nerve palsy
- Familial cylindromatosis
- Familial deafness
- Familial dermographism
- Familial dilated cardiomyopathy
- Familial emphysema
- Familial encephalopathy with neuroserpin inclusion bodies
- Familial erythrocytosis, 1
- Familial hyperchylomicronemia
- Familial hyperlipoproteinemia
- Familial hyperlipoproteinemia type 1
- Familial hyperlipoproteinemia type 3
- Familial hyperlipoproteinemia type 4
- Familial hypersecretion of adrenal androgens
- Familial hypersensitivity pneumonitis
- Familial hypertension
- Familial hypopituitarism
- Familial hypothyroidism
- Familial interstitial fibrosis
- Familial intestinal polyatresia syndrome
- Familial Mediterranean fever
- Familial multiple trichodiscomas
- Familial myelofibrosis
- Familial nasal acilia
- Familial neurocardiogenic syncope
- Familial non-immune hyperthyroidism
- Familial opposable triphalangeal thumbs duplication
- Familial partial paralysis
- Familial periodic paralysis
- Familial platelet disorder with associated myeloid malignancy
- Familial polyposis
- Familial porencephaly
- Familial pulmonary arterial hypertension leucopenia and atrial septal defect
- Familial renal cell carcinoma
- Familial streblodactyly
- Familial symmetric lipomatosis
- Familial Treacher Collins syndrome
- Familial veinous malformations
- Familial ventricular tachycardia
- Familial visceral myopathy
- Familial Wilms tumor 2
- Familial young-adult-onset arteriosclerotic
- Fanconi anemia type 1
- Fanconi anemia type 2
- Fanconi anemia type 3
- Fanconi Bickel syndrome
- Fanconi ichthyosis dysmorphism
- Fanconi like syndrome
- Fanconi renotubular syndrome
- Fanconi's anemia
- Fara Chlupackova syndrome
- Farber's disease
- Farmer's lung
- Fascioliasis
- Fatal familial insomnia
- Faulk Epstein Jones syndrome
- Faye-Petersen Ward Carey syndrome
- Fazio Londe syndrome
- Fealty syndrome
- Febrile Ulceronecrotic Mucha-Habermann disease
- Fechtner syndrome
- Feigenbaum Bergeron Richardson syndrome
- Feigenbaum Bergeron syndrome
- Feingold Trainer syndrome
- Felty's Syndrome
- Female pseudohermaphrodism
- Female pseudohermaphrodism Genuardi type
- Femoral facial syndrome
- Femur bifid with monodactylous ectrodactyly
- Femur fibula ulna syndrome
- Fenton Wilkinson Toselano syndrome
- Ferlini Ragno Calzolari syndrome
- Fernhoff Blackston Oakley syndrome
- Fertile eunuch syndrome
- Fetal acitretin syndrome
- Fetal akinesia syndrome X-linked
- Fetal akinesia syndrome, X-linked
- Fetal alcohol syndrome
- Fetal aminopterin syndrome
- Fetal and neonatal alloimmune thrombocytopenia
- Fetal anticonvulsant syndrome
- Fetal antihypertensive drugs syndrome
- Fetal brain disruption sequence
- Fetal cytomegalovirus syndrome
- Fetal diethylstilbestrol syndrome
- Fetal edema
- Fetal enterovirus syndrome
- Fetal hydantoin syndrome
- Fetal indomethacin syndrome
- Fetal iodine syndrome
- Fetal left ventricular aneurysm
- Fetal macrosomia
- Fetal methimazole syndrome
- Fetal methyl mercury syndrome
- Fetal minoxidil syndrome
- Fetal parainfluenza virus type 3 syndrome
- Fetal parvovirus syndrome
- Fetal phenothiazine syndrome
- Fetal prostaglandin syndrome
- Fetal thalidomide syndrome
- Fetal warfarin syndrome
- FG syndrome
- FG syndrome 2
- FG syndrome 3
- FG syndrome 4
- Fibrinogen deficiency, congenital
- Fibrocartilaginous embolism
- Fibrochondrogenesis
- Fibrodysplasia ossificans progressiva
- Fibrolipomatosis
- Fibromatosis
- Fibromatosis gingival hypertrichosis
- Fibromatosis multiple non ossifying
- Fibromatosis, gingival, 3
- Fibromuscular dysplasia of arteries
- Fibrosarcoma
- Fibrosing alveolitis
- Fibrous dysplasia
- Fibula aplasia complex brachydactyly
- Fibular aplasia
- Fibular aplasia ectrodactyly
- Fibular hypoplasia and complex brachydactyly
- Fibular hypoplasia scapulo pelvic dysplasia absent
- Filaminopathy, autosomal dominant
- Filariasis
- Fine-Lubinsky syndrome
- Fingerprints absence syndactyly milia
- Finnish lethal neonatal metabolic syndrome
- Finnish type amyloidosis
- Finucane Kurtz Scott syndrome
- Fish-eye disease
- Fissured tongue
- Fistulous vegetative verrucous hydradenoma
- Fitz-Hugh-Curtis syndrome
- Fitzsimmons Walson Mellor syndrome
- Fitzsimmons-Guilbert syndrome
- Fitzsimmons-McLachlan-Gilbert syndrome
- Flat umbilicus familial
- Flaujeac factor deficiency
- Flavimonas oryzihabitans
- Floating-harbor syndrome
- Florid cemento-osseous dysplasia
- Florid cystic endosalpingiosis of the uterus
- Florid papillomatosis of the nipple
- FLOTCH syndrome
- Flynn Aird syndrome
- Focal alopecia congenital megalencephaly
- Focal cortical dysplasia of Taylor
- Focal dermal hypoplasia
- Focal dystonia
- Focal facial dermal dysplasia
- Focal or multifocal malformations in neuronal migration
- Focal segmental glomerulosclerosis
- Foix Chavany Marie syndrome
- Follicle-stimulating hormone deficiency, isolated
- Follicular dendritic cell tumor
- Follicular hamartoma alopecia cystic fibrosis
- Follicular ichthyosis
- Follicular lymphoma
- Follicular lymphoreticuloma
- Fontaine Farriaux Blanckaert syndrome
- Forbes Albright syndrome
- Formaldehyde poisoning
- Forney Robinson Pascoe syndrome
- Fountain syndrome
- Fowler Christmas Chapple syndrome
- Fox-Fordyce disease
- Fragile X syndrome
- Fragile X syndrome type 1
- Fragile X syndrome type 2
- Fragile X syndrome type 3
- Fragoso Cid Garcia Hernandez syndrome
- Franceschini Vardeu Guala syndrome
- Francois dyscephalic syndrome
- Franek Bocker kahlen syndrome
- Frank Ter Haar syndrome
- Fraser Jequier Chen syndrome
- Fraser like syndrome
- Fraser syndrome
- Frasier syndrome
- FRAXD
- FRAXE syndrome
- Freeman-Sheldon syndrome
- Freiberg's disease
- Freire-Maia odontotrichomelic syndrome
- Frenkel Russe syndrome
- Frey's syndrome
- Frias syndrome
- Fried Goldberg Mundel syndrome
- Friedel Heid Grosshans syndrome
- Friedman Goodman syndrome
- Friedreich ataxia
- Friedreich ataxia congenital glaucoma
- Frints De Smet Fabry Fryns syndrome
- Froelich's syndrome
- Frolich's syndrome
- Fronto nasal malformation cloacal exstrophy
- Fronto-facio-nasal dysplasia
- Frontofacionasal dysplasia type Al gazali
- Frontometaphyseal dysplasia
- Frontonasal dysplasia
- Frontonasal dysplasia acromelic
- Frontonasal dysplasia klippel feil syndrome
- Frontonasal dysplasia phocomelic upper limbs
- Frontotemporal dementia
- Frontotemporal dementia, ubiquitin-positive
- Froster huch syndrome
- Froster Iskenius Waterson syndrome
- Fructose-1,6-bisphosphatase deficiency
- Fructosuria
- Frydman Cohen Ashenazi syndrome
- Frydman Cohen Karmon syndrome
- Fryer syndrome
- Fryns Fabry Remans syndrome
- Fryns Hofkens Fabry syndrome
- Fryns smeets thiry syndrome
- Fryns syndrome
- Fuchs atrophia gyrata chorioideae et retinae
- Fucosidosis
- Fucosidosis type 1
- Fuhrmann syndrome
- Fukuda Miyanomae Nakata syndrome
- Fukuyama type muscular dystrophy
- Fumaric aciduria
- Functioning pancreatic endocrine tumor
- Fuqua Berkovitz syndrome
- Furlong syndrome
- Furukawa Takagi Nakao syndrome
- Furunculous myiasis
- Fused mandibular incisors
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