This list of
rare diseases was originally taken from the
NIH public domain resource at
http://ord.aspensys.com/diseases.asp .
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
- EAF[?]
- Eales disease[?]
- Ear, patella, short stature syndrome[?]
- Earlobes thickened conductive deafness[?]
- Early infantile autism
- Ebola virus disease[?]
- Ebstein's anomaly[?]
- Eccentrochondrodysplasia[?]
- Eccrine acrospiroma[?]
- Eclampsia[?]
- Ecp syndrome[?]
- Ectodermal dysplasia absent dermatoglyphics[?]
- 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 hypohidrotic autosomal dominant[?]
- Ectodermal dysplasia hypohidrotic hypothyroidism ciliary diskinesia[?]
- 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, hydrotic[?]
- Ectodermal dysplasia, hypohidrotic, autosomal recessive[?]
- Ectodermal dysplasia[?]
- Ectodermal dysplasias[?]
- Ectodermic dysplasia anhidrotic cleft lip[?]
- Ectopia lentis isolated[?]
- Ectopia pupillae[?]
- Ectopic coarctation[?]
- Ectopic ossification familial type[?]
- Ectopic pregnancy
- Ectrodactyly cardiopathy dysmorphism[?]
- Ectrodactyly cleft palate syndrome[?]
- Ectrodactyly diaphragmatic hernia corpus callosum [?]
- Ectrodactyly dominant form[?]
- Ectrodactyly ectrodermal dysplasia[?]
- Ectrodactyly polydactyly[?]
- Ectrodactyly recessive form[?]
- Ectrodactyly[?]
- 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 without cleft lip palate[?]
- Eec syndrome[?]
- Eem syndrome[?]
- Egg Hypersensitivity[?]
- Egg shaped pupils[?]
- 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 4, autosomal dominant[?]
- Ehlers-Danlos syndrome type 5[?]
- Ehlers-Danlos syndrome type 6[?]
- Ehlers-Danlos syndrome type 7A[?]
- Ehlers-Danlos syndrome type 7B[?]
- Ehlers-Danlos syndrome type 7C[?]
- Ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality[?]
- Ehlers-Danlos syndrome, arthrochalasic type[?]
- Ehlers-Danlos syndrome, classic type[?]
- Ehlers-Danlos syndrome, dermatosparaxis type[?]
- Ehlers-Danlos syndrome, hypermobile type[?]
- Ehlers-danlos syndrome, type 11[?]
- Ehlers-Danlos syndrome
- Ehrlichiosis
- Eijkman's syndrome[?]
- Eisenmenger syndrome[?]
- Eisoptrophobia[?]
- Elattoproteus in context of NF[?]
- Elective mutism[?]
- Electron transfer flavoprotein, deficiency of[?]
- Electrophobia[?]
- Elejalde syndrome[?]
- Elephant man in context of NF[?]
- Elephantiasis
- Elliott Ludman Teebi syndrome[?]
- Ellis Yale Winter syndrome[?]
- Ellis-Van Creveld syndrome[?]
- Emerinopathy[?]
- Emery Nelson syndrome[?]
- Emery-Dreifuss muscular dystrophy, dominant type[?]
- Emery-Dreifuss muscular dystrophy, X-linked[?]
- Emery-Dreifuss muscular dystrophy[?]
- Emetophobia[?]
- Emphysema, congenital lobar[?]
- Emphysema
- Emphysema-penoscrotal web-deafness-mental retardation[?]
- Empty sella syndrome[?]
- Enamel hypoplasia cataract hydrocephaly[?]
- Encephalitis lethargica[?]
- Encephalo cranio cutaneous lipomatosis[?]
- Encephalocele anencephaly[?]
- Encephalocele anterior[?]
- Encephalocele frontal[?]
- Encephalocele[?]
- Encephalomyelitis, Myalgic[?]
- Encephalomyelitis[?]
- Encephalopathy intracerebral calcification retinal[?]
- Encephalopathy progressive optic atrophy[?]
- Encephalopathy subacute spongiform, Gerstmann-Stra[?]
- Encephalopathy-basal ganglia-calcification[?]
- Encephalophathy recurrent of childhood[?]
- Encephalotrigeminal angiomatosis[?]
- Enchondromatosis (benign)[?]
- Enchondromatosis dwarfism deafness[?]
- Endocardial fibroelastosis[?]
- Endocarditis, infective[?]
- Endocarditis
- Endocrinopathy[?]
- Endometrial stromal sarcoma[?]
- Endometriosis
- Endomyocardial fibroelastosis[?]
- Endomyocardial fibrosis[?]
- Enetophobia[?]
- Eng Strom syndrome[?]
- Engelhard Yatziv syndrome[?]
- Englemann disease[?]
- Enochlophobia[?]
- Enolase deficiency type 1[?]
- Enolase deficiency type 2[?]
- Enolase deficiency type 3[?]
- Enolase deficiency type 4[?]
- Enolase deficiency[?]
- Enterobiasis
- Enteropathica[?]
- Enterovirus antenatal infection[?]
- Envenomization by bothrops lanceolatus[?]
- Envenomization by the Martinique lancehead viper[?]
- Environment associated hypertension[?]
- Eosinophilia-myalgia syndrome
- Eosinophilic cryptitis[?]
- Eosinophilic cystitis[?]
- Eosinophilic fasciitis[?]
- Eosinophilic gastroenteritis[?]
- Eosinophilic granuloma[?]
- Eosinophilic lymphogranuloma[?]
- Eosinophilic Pustular Folliculitis[?]
- Eosinophilic synovitis[?]
- Eosophobia[?]
- 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 acquisita[?]
- Epidermolysis bullosa dystrophica, Bart type[?]
- Epidermolysis bullosa dystrophica, dominant type[?]
- Epidermolysis bullosa herpetiformis, Dowling-Meara[?]
- Epidermolysis bullosa intraepidermic[?]
- Epidermolysis bullosa inversa dystrophica[?]
- Epidermolysis bullosa simplex with anodontia, hair[?]
- Epidermolysis bullosa simplex, Cockayne-Touraine type[?]
- Epidermolysis bullosa simplex, Koebner type[?]
- Epidermolysis bullosa simplex, Ogna type[?]
- Epidermolysis bullosa, dermolytic[?]
- Epidermolysis bullosa, generalized atrophic benign[?]
- Epidermolysis bullosa, junctional, Herlitz-Pearson[?]
- Epidermolysis bullosa, junctional, with pyloric atrophy[?]
- Epidermolysis bullosa, junctional[?]
- Epidermolysis bullosa, pretibial[?]
- Epidermolysis bullosa[?]
- Epidermolytic hyperkeratosis[?]
- Epidermolytic palmoplantar keratoderma Vorner type[?]
- Epididymitis[?]
- 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 2[?]
- Epilepsy telangiectasia[?]
- Epilepsy with myoclono-astatic crisis[?]
- Epilepsy, benign occipital[?]
- Epilepsy, myoclonic progressive familial[?]
- Epilepsy, nocturnal, frontal lobe type[?]
- Epilepsy, partial, familial[?]
- Epilepsy
- Epimerase deficiency[?]
- Epimetaphyseal dysplasia cataract[?]
- Epimetaphyseal skeletal dysplasia[?]
- Epiphyseal dysplasia dysmorphism camptodactyly[?]
- Epiphyseal dysplasia hearing loss dysmorphism[?]
- Epiphyseal dysplasia multiple[?]
- Epiphyseal stippling syndrome osteoclastic hyperplasia[?]
- Epiphysealis hemimelica dysplasia[?]
- Epistaxiophobia[?]
- Epithelial-myoepithelial carcinoma[?]
- Epitheliopathy (APMPPE)[?]
- Epitheliopathy, acute posterior multifocal placoid[?]
- EPP (erythropoietic protoporphyria)[?]
- Epstein barr virus mononucleosis[?]
- Epstein syndrome[?]
- Equinophobia[?]
- Erb-Duchenne palsy[?]
- Erdheim disease[?]
- Erdheim-Chester syndrome[?]
- Ereuthrophobia[?]
- Ergophobia[?]
- Eronen Somer Gustafsson syndrome[?]
- Erosive pustular dermatosis of the scalp[?]
- Erysipelas
- Erythema multiforme[?]
- 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[?]
- Erythrokeratolysis hiemalis ichthyosis[?]
- Erythromelalgia[?]
- Erythroplakia[?]
- Erythropoietic protoporphyria[?]
- Escher Hirt syndrome[?]
- Esophageal atresia associated anomalies[?]
- Esophageal atresia coloboma talipes[?]
- Esophageal atresia
- Esophageal disorder[?]
- Esophageal duodenal atresia abnormalities of hands[?]
- Esophageal neoplasm[?]
- Esophageal varices[?]
- Esotropia
- Essential hypertension[?]
- Essential iris atrophy[?]
- Essential mixed cryoglobulinemia[?]
- Essential thrombocytopenia[?]
- Essential thrombocytosis[?]
- Esthesioneuroblastoma[?]
- Ethylmalonic aciduria[?]
- Ethylmalonic adipic aciduria[?]
- Euhidrotic ectodermal dysplasia[?]
- Eunuchoidism familial[?]
- Euphobia[?]
- Evan's syndrome[?]
- Ewing's sarcoma[?]
- Exencephaly
- Exercise induced anaphylaxis[?]
- Exfoliative dermatitis[?]
- Exner syndrome[?]
- Exogenous lipoid pneumonia[?]
- Exomphalos-macroglossia-gigantism syndrome[?]
- Exostoses anetodermia brachydactyly type E[?]
- Exostoses, multiple, type 1[?]
- Exostoses, multiple, type 2[?]
- Exostoses, multiple, type 3[?]
- Exostoses, multiple[?]
- Exostoses[?]
- Experimental allergic encephalomyelitis[?]
- 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[?]
- Extrapyramidal disorder[?]
- Extrasystoles short stature hyperpigmentation microcephaly[?]
- Eye defects arachnodactyly cardiopathy[?]
- Eyebrows duplication syndactyly[?]