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List of rare diseases starting with E
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[?]
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