This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/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