Rare Disease Directory D - F
- 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
UA Chapters
Coastal Carolina U
TBD
Univ. of Nebraska
Pediatric Brain Cancer
Boston College
Duchenne muscular dystrophy
Fordham Univ.
Extrarenal Rhabdoid Tumor
Princeton Univ.
Aplastic Anemia
Penn St. Univ.
Kidney Cancer
Univ. of Illinois
Acoustic Neuroma
N. Carolina St. U
Leukemia
Ohio St. Univ.
CMT
Kent St. Univ.
TBD
Univ. of Arizona
TBD
Saint Francis U
Apraxia
Northwestern U
Niemann-Pick Type C
U of Notre Dame
Osteosarcoma
U of Wisconsin–Madison
Leigh's Disease
Colgate Univ.
Ependymoma
Univ. of Maryland
Cystic Fibrosis
Show Your Support...
Shop the UA Store
T-shirts, Sweatshirts, Polo shirts and more...
Join the Team
Help us by joining the fight against rare diseases. Become a member now and start enjoying the benefits today.
Uplifting Athletes News
Friday, May 03, 2013
Uplifting Athletes Blog
PhRMA interview with Scott Shirley
May 22, 2013
The Pharmaceutical Research and Manufacturers of America (PhRMA) represents innovative biopharmaceutical research and di…
President Barack Obama welcomes Hoffman family and 2012 Uplifting Athletes Rare Disease Champion Rex Burkhead to White House
April 29, 2013
Jack Hoffman touched a lot of hearts with his inspirational 69-yard touchdown run during the Nebraska football spring ga…
2013 NFL Draft Recap
April 27, 2013
Penn State University, Ohio State University, Northwestern University, North Carolina State University, Colgate University, University of Maryland, Boston College, University of Nebraska
2013 NFL Draft RECAP: Very proud to say that the 2012 Rare Disease Champion and eight other Uplifting Athletes were s…