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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With E

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* EA syndrome - See Episodic ataxia
* EA2 - See Episodic ataxia with nystagmus
* EAF
* Eagle syndrome
* Eagle-Barrett syndrome - See Prune belly syndrome
* Eagle's syndrome - See Eagle syndrome
* Eales disease
* EAOH - See Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis - See Congenital contractural arachnodactyly
* Ear deformity and conductive hearing loss - See Conductive deafness with malformed external ear
* Ear deformity characterized by an abnormal development of the helix, anthelix, and scaphoid fossa - See Morel's ear
* Ear, patella, short stature syndrome - See Meier-Gorlin syndrome
* Early balding, patella luxation, acromicria and hypogonadism - See Scholte syndrome
* Early cutaneous photosensitivity and severe colitis - See Cutaneous photosensitivity and colitis, lethal
* Early Infantile Epileptic Encephalopathy - See Ohtahara syndrome
* Early infantile epileptic encephalopathy-10 - See Microcephaly, seizures, and developmental delay
* Early onset lymphedema - See Milroy disease
* Early onset torsion dystonia - See Dystonia 1
* Early onset tylosis (type B) - See Tylosis
* Early urethral obstruction sequence - See Urethral obstruction sequence
* Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Early-onset cerebellar ataxia with hypoalbuminemia - See Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Early-onset familial form of Alzheimer disease - See Alzheimer disease type 1
* Early-onset Fuchs endothelial corneal dystrophy - See Corneal dystrophy Fuchs endothelial 1
* Early-onset primary dystonia - See Dystonia 1
* Early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline - See Karak syndrome
* Early-onset regressive form of metaphyseal dysplasia - See Metaphyseal anadysplasia
* Ears prominent and constricted - See Auriculo-condylar syndrome
* EAST syndrome - See SeSAME syndrome
* Eastern equine encephalitis
* Eastman Bixler syndrome - See Faciocardiorenal syndrome
* EATCL - See Enteropathy-associated T-cell lymphoma
* Eaton Lambert syndrome - See Lambert Eaton myasthenic syndrome
* EB acquisita - See Epidermolysis bullosa acquisita
* EBA - See Epidermolysis bullosa acquisita
* EBLA - See Epidermolysis bullosa, lethal acantholytic
* EBM - See Bullous dystrophy hereditary macular type
* Ebola virus disease
* EBS with mottled pigmentation - See Epidermolysis bullosa simplex with mottled pigmentation
* EBS, generalized - See Epidermolysis bullosa simplex, generalized
* EBS-DM - See Epidermolysis bullosa simplex, Dowling-Meara type
* EBS-K - See Epidermolysis bullosa simplex, generalized
* EBS-loc - See Epidermolysis bullosa simplex, localized
* EBS-MD - See Epidermolysa bullosa simplex with muscular dystrophy
* EBS-MP - See Epidermolysis bullosa simplex with mottled pigmentation
* EBS-OG - See Epidermolysis bullosa simplex, Ogna type
* Ebstein anomaly - See Ebstein's anomaly
* Ebstein's anomaly
* Ebstein's malformation - See Ebstein's anomaly
* EBV infection, severe, susceptibility to - See X-linked lymphoproliferative syndrome
* EBVS - See X-linked lymphoproliferative syndrome
* Eccentrochondrodysplasia
* ECCL - See Encephalocraniocutaneous lipomatosis
* Eccrine acrospiroma
* Eccrine mucinous carcinoma
* Eccrine porocarcinoma - See Acrospiroma
* Eccrine spiradenoma - See Benign eccrine spiradenoma
* Eccrine spiradenoma, benign - See Benign eccrine spiradenoma
* Eccrine spiradenoma, malignant - See Malignant eccrine spiradenoma
* ECD - See Erdheim-Chester disease
* Echinococcosis - See Alveolar echinococcosis
* Eclampsia
* ECP syndrome - See Ectrodactyly cleft palate syndrome
* Ectasia or varix of the vein of Galen - See Vein of Galen aneurysm
* Ectodermal dysplasia
* Ectodermal dysplasia - cataracts - kyphoscoliosis - See Arthrogryposis and ectodermal dysplasia
* Ectodermal dysplasia 1 - See X-linked hypohidrotic ectodermal dysplasia
* Ectodermal dysplasia 2, hidrotic
* Ectodermal dysplasia absent dermatoglyphics - See Basan syndrome
* Ectodermal dysplasia adrenal cyst
* Ectodermal dysplasia alopecia preaxial polydactyly
* Ectodermal dysplasia and cerebellar ataxia - See Cerebellar ataxia ectodermal dysplasia
* Ectodermal dysplasia anhidrotic - See Hypohidrotic ectodermal dysplasia
* Ectodermal dysplasia arthrogryposis diabetes mellitus
* Ectodermal dysplasia Bartalos type
* Ectodermal dysplasia Berlin type
* Ectodermal dysplasia blindness
* Ectodermal dysplasia hypohidrotic autosomal dominant - See Hypohidrotic ectodermal dysplasia autosomal dominant
* Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* Ectodermal dysplasia Margarita island type - See Bustos Simosa Pinto Cisternas syndrome
* Ectodermal dysplasia Margarita type
* Ectodermal dysplasia mental retardation CNS malformation
* Ectodermal dysplasia mental retardation syndactyly
* Ectodermal dysplasia neurosensory deafness
* Ectodermal dysplasia osteosclerosis - See Cote Katsantoni syndrome
* Ectodermal dysplasia skin fragility syndrome
* Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract - See Arthrogryposis and ectodermal dysplasia
* Ectodermal dysplasia trichoodontoonychial type
* Ectodermal dysplasia type 4 - See Bustos Simosa Pinto Cisternas syndrome
* Ectodermal dysplasia with corkscrew hairs - See Trueb Burg Bottani syndrome
* Ectodermal dysplasia with mental retardation and syndactyly - See Ectodermal dysplasia mental retardation syndactyly
* Ectodermal dysplasia with natal teeth Turnpenny type
* Ectodermal dysplasia, absent dermatoglyphic pattern, with change in nails and simian crease - See Basan syndrome
* Ectodermal dysplasia, anhidrotic, with cleft lip/palate - See Rapp-Hodgkin syndrome
* Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly - See Zlotogora syndrome
* Ectodermal dysplasia, ectrodactyly, and macular dystrophy - See EEM syndrome
* Ectodermal dysplasia, hidrotic - See Ectodermal dysplasia 2, hidrotic
* Ectodermal dysplasia, hidrotic, Christianson-Fourie type
* Ectodermal dysplasia, hypohidrotic - See Hypohidrotic ectodermal dysplasia
* Ectodermal dysplasia, hypohidrotic, with acanthosis nigricans - See Lelis syndrome
* Ectodermal dysplasia, hypohidrotic, with immune deficiency - See Hypohidrotic ectodermal dysplasia with immune deficiency
* Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
* Ectopia lentis chorioretinal dystrophy myopia - See Noble Bass Sherman syndrome
* Ectopia lentis, isolated autosomal recessive
* Ectopia pupillae
* Ectopic ACTH syndrome - See Cushing's syndrome
* Ectopic adrenocorticotropic hormone syndrome - See Cushing's syndrome
* Ectopic geographic tongue - See Geographic tongue
* Ectopic ossification familial type - See Progressive osseous heteroplasia
* Ectopic pregnancy
* Ectrodactyly - See Split hand foot malformation
* Ectrodactyly and ectodermal dysplasia without cleft lip/palate
* Ectrodactyly cardiopathy dysmorphism
* Ectrodactyly cleft palate syndrome
* Ectrodactyly of lower limbs, congenital heart defect and characteristic facies - See Ectrodactyly cardiopathy dysmorphism
* Ectrodactyly polydactyly
* Ectrodactyly spina bifida cardiopathy - See Kasznica Carlson Coppedge syndrome
* Ectrodactyly with aplasia of long bones - See Cleft hand absent tibia
* Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum - See Saal Bulas syndrome
* Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery - See Kasznica Carlson Coppedge syndrome
* Ectrodactyly, spastic paraplegia and mental retardation - See Mental retardation spasticity ectrodactyly
* Ectrodactyly-cleft lip/palate syndrome - See EEC syndrome
* Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate - See EEC syndrome
* Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome - See EEC syndrome
* Ectropion inferior cleft lip and or palate
* ECYT1 - See Familial erythrocytosis, 1
* Eczema thrombocytopenia immunodeficiency syndrome - See Wiskott Aldrich syndrome
* ED syndrome - See Ehlers-Danlos syndrome
* ED2 - See Ectodermal dysplasia 2, hidrotic
* ED4 - See Bustos Simosa Pinto Cisternas syndrome
* EDA - See Hypohidrotic ectodermal dysplasia
* Edema of the optic disc - See Papilledema
* Edinburgh malformation syndrome
* EDM - See Multiple epiphyseal dysplasia
* EDM1 - See Multiple epiphyseal dysplasia 1
* EDM2 - See Multiple epiphyseal dysplasia 2
* EDM3 - See Multiple epiphyseal dysplasia 3
* EDM4 - See Multiple epiphyseal dysplasia 4
* EDM5 - See Multiple epiphyseal dysplasia 5
* EDMD - See Emery-Dreifuss muscular dystrophy
* EDMD1 - See Emery-Dreifuss muscular dystrophy, X-linked
* EDS - See Ehlers-Danlos syndrome
* EDS 11 (formerly) - See Joint laxity, familial
* EDS 5 - See Ehlers-Danlos syndrome type 5
* EDS 6 (formerly) - See Ehlers-Danlos syndrome kyphoscoliotic type
* EDS due to TNX deficiency - See Ehlers-Danlos-like syndrome due to tenascin-X deficiency
* EDS IV (formerly) - See Ehlers-Danlos syndrome vascular type
* EDS IX (formerly) - See Occipital horn syndrome
* EDS VIB (formerly) - See Brittle cornea syndrome
* EDS10 - See Ehlers-Danlos syndrome dysfibronectinemic type
* EDS3 (formerly) - See Ehlers-Danlos syndrome hypermobility type
* EDS4 (formerly) - See Ehlers-Danlos syndrome vascular type
* EDS5 - See Ehlers-Danlos syndrome type 5
* EDS7A (formerly) - See Ehlers-Danlos syndrome arthrochalasia type
* EDS7B (formerly) - See Ehlers-Danlos syndrome arthrochalasia type
* Edwards Patton Dilly syndrome - See Nephropathy, deafness, and hyperparathyroidism
* Edwards syndrome - See Trisomy 18
* EEC syndrome
* EEC syndrome without cleft lip/palate - See Ectrodactyly and ectodermal dysplasia without cleft lip/palate
* EEE - See Eastern equine encephalitis
* EEM syndrome
* EF - See Eosinophilic fasciitis
* EFMR - See PCDH19-related female-limited epilepsy
* Egg shaped pupils
* EHK - See Epidermolytic hyperkeratosis
* Ehlers Danlos syndrome - See Ehlers-Danlos syndrome
* Ehlers Danlos syndrome, arterial type - See Ehlers-Danlos syndrome vascular type
* Ehlers Danlos syndrome, ecchymotic type - See Ehlers-Danlos syndrome vascular type
* Ehlers Danlos syndrome, Sack-Barabas type - See Ehlers-Danlos syndrome vascular type
* Ehlers-Danlos syndrome
* Ehlers-Danlos syndrome arthrochalasia type
* Ehlers-Danlos syndrome Beasley Cohen type
* Ehlers-Danlos syndrome cardiac valvular type - See Ehlers-Danlos syndrome arthrochalasia type
* Ehlers-Danlos syndrome dermatosparaxis type
* Ehlers-Danlos syndrome dysfibronectinemic type
* Ehlers-Danlos syndrome hypermobility type
* Ehlers-Danlos syndrome kyphoscoliotic type
* Ehlers-danlos syndrome oculoscoliotic type - See Ehlers-Danlos syndrome kyphoscoliotic type
* Ehlers-Danlos syndrome progeroid type
* Ehlers-Danlos syndrome type 1 (formerly) - See Ehlers-Danlos syndrome, classic type
* Ehlers-Danlos syndrome type 10 (formerly) - See Ehlers-Danlos syndrome dysfibronectinemic type
* Ehlers-Danlos syndrome type 2 (formerly) - See Ehlers-Danlos syndrome, classic type
* Ehlers-Danlos syndrome type 3 (formerly) - See Ehlers-Danlos syndrome hypermobility type
* Ehlers-Danlos syndrome type 4 (formerly) - See Ehlers-Danlos syndrome vascular type
* Ehlers-Danlos syndrome type 5
* Ehlers-Danlos syndrome type 6 (formerly) - See Ehlers-Danlos syndrome kyphoscoliotic type
* Ehlers-Danlos syndrome type 6B (formerly) - See Brittle cornea syndrome
* Ehlers-Danlos syndrome type 7A (formerly) - See Ehlers-Danlos syndrome arthrochalasia type
* Ehlers-Danlos syndrome type 7B (formerly) - See Ehlers-Danlos syndrome arthrochalasia type
* Ehlers-Danlos syndrome type 7C (formerly) - See Ehlers-Danlos syndrome dermatosparaxis type
* Ehlers-Danlos syndrome vascular type
* Ehlers-Danlos syndrome with mental retardation, deafness, and cataract - See Ehlers-Danlos syndrome Beasley Cohen type
* Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality - See Ehlers-Danlos syndrome dysfibronectinemic type
* Ehlers-Danlos syndrome, classic type
* Ehlers-Danlos syndrome, occipital horn type (formerly) - See Occipital horn syndrome
* Ehlers-danlos syndrome, type 11 (formerly) - See Joint laxity, familial
* Ehlers-Danlos syndrome, type X - See Ehlers-Danlos syndrome dysfibronectinemic type
* Ehlers-Danlos-like syndrome due to tenascin-X deficiency
* Ehrlichiosis
* EIEE10 - See Microcephaly, seizures, and developmental delay
* EIEE9 - See PCDH19-related female-limited epilepsy
* Eisenmenger syndrome
* EJM - See Juvenile myoclonic epilepsy
* Ekbom syndrome - See Restless legs syndrome, susceptibility to, 1
* EKD1 - See Dystonia 10
* EKD2 - See Dystonia 19
* EKV - See Erythrokeratodermia variabilis et progressiva
* EKVP - See Erythrokeratodermia variabilis et progressiva
* Elastoma intrapapillare perforans verruciformis - See Elastosis perforans serpiginosa
* Elastosis perforans serpiginosa
* Elattoproteus syndrome - See Macrocephaly mesodermal hamartoma spectrum
* Elective mutism
* Elejalde syndrome - See Acrocephalopolydactylous dysplasia
* Elephantiasis - See Lymphatic filariasis
* Elephantitis - See Lymphatic filariasis
* Elevated dark spiny papules on the face or trunk - See Trichostasis spinulosa
* Elliott Ludman Teebi syndrome
* Ellis Yale Winter syndrome
* Ellis-Van Creveld syndrome
* Elongated styloid process syndrome - See Eagle syndrome
* Elongated styloid process which causes cervico facial pain tinnitus and otalgia - See Eagle syndrome
* Elschnig syndrome - See Ectropion inferior cleft lip and or palate
* ELST - See Endolymphatic sac tumor
* EM - See Erythema multiforme
* EMA - See Glutaric acidemia type II
* Emanuel syndrome
* Embolism, fibrocartilaginous - See Fibrocartilaginous embolism
* Embryofoetal valproic acid syndrome - See Fetal valproate syndrome
* Embryonal carcinoma
* Embryonal rhabdomyosarcoma - See Rhabdomyosarcoma embryonal
* Embryonal sarcoma
* Embryonal tumor with abundant neuropil and true rosettes - See Embryonal tumor with multilayered rosettes
* Embryonal tumor with multilayered rosettes
* EMC - See Epithelial-myoepithelial carcinoma
* EME - See Ethylmalonic encephalopathy
* Emerinopathy
* Emery-Dreifuss muscular dystrophy
* Emery-Dreifuss muscular dystrophy, dominant type
* Emery-Dreifuss muscular dystrophy, X-linked
* Emery-Nelson syndrome - See Hand and foot deformity with flat facies
* EMG Syndrome - See Beckwith-Wiedemann syndrome
*   Emotional incontinence - See Pseudobulbar affect
*   Emotional lability - See Pseudobulbar affect
* EMPD - See Paget disease, extramammary
* Empeines - See Pinta
* Emphysema, congenital lobar - See Congenital lobar emphysema
* Empty scrotum - See Anorchia
* Empty sella syndrome
* Empty sella turcica - See Empty sella syndrome
* EMS - See Eosinophilia-myalgia syndrome
* En coup de sabre - See Linear scleroderma
* Enamel hypoplasia and hypocalcification with associated strikingly curly hair - See Tricho-dento-osseous syndrome
* Enamel hypoplasia cataract hydrocephaly
* Enamel hypoplasia X-linked - See Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
* Enamel hypoplasia, capsular cataracts, and ductal stenosis - See Seow Najjar syndrome
* Enamel hypoplasia, X-linked - See Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
* Enamel renal syndrome - See Amelogenesis imperfecta nephrocalcinosis
* Enamel-renal syndrome - See Amelogenesis imperfecta hypoplastic type, IG
* Encephalitis lethargica
* Encephalocele
* Encephalocele anencephaly
* Encephalocraniocutaneous lipomatosis
* Encephalofacial angiomatosis - See Sturge-Weber syndrome
* Encephalomeningocele - See Meningoencephalocele
* Encephalomyopathy
* Encephalopathy due to GLUT1 deficiency - See Glucose transporter type 1 deficiency syndrome
* Encephalopathy fatal infantile with mitochondrial respiratory chain defects - See Pontocerebellar hypoplasia type 6
* Encephalopathy fatal infantile with olivopontocerebellar hypoplasia - See Pontocerebellar hypoplasia type 4
* Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
* Encephalopathy of childhood - See Lennox-Gastaut syndrome
* Encephalopathy recurrent of childhood
* Encephalopathy subacute spongiform Gerstmann-Straussler type - See Gerstmann-Straussler-Scheinker disease
* Encephalopathy, ethylmalonic - See Ethylmalonic encephalopathy
* Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis - See Aicardi-Goutieres syndrome
* Encephalopathy, familial, with Collins bodies - See Familial encephalopathy with neuroserpin inclusion bodies
* Encephalopathy, hepatic - See Hepatic encephalopathy
* Encephalopathy, petechiae, and ethylmalonic aciduria - See Ethylmalonic encephalopathy
* Encephalopathy, recurrent, of childhood - See Neuhauser Eichner Opitz syndrome
* Encephalotrigeminal angiomatosis - See Sturge-Weber syndrome
* Enchondroma
* Enchondromatosis - See Ollier disease
* Enchondromatosis dwarfism deafness
* Enchondromatosis with Multiple Cavernous Hemangiomas - See Maffucci syndrome
* Endemic Kaposi sarcoma
* Endemic pemphigus foliaceus - See Pemphigus and fogo selvagem
* Endemic syphilis - See Bejel
* Endemic treponematoses - See Yaws
* Endemic treponematosis caused by Treponema carateum - See Pinta
* Endemic typhus - See Typhus
* Endocardial fibroelastosis
* Endocarditis, infective - See Infective endocarditis
* Endocrine adenomatosis multiple - See Multiple endocrine neoplasia type 1
* Endodermal-sinus tumor - See Yolk sac tumor
* Endolymphatic sac tumor
*   Endometrial Cancer
* Endometrial stromal sarcoma
* Endomyocardial fibroelastosis
* Endomyocardial fibrosis
* Endosteal hyperostosis autosomal recessive - See Hyperostosis corticalis generalisata
* Endosteal hyperostosis, autosomal dominant - See Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
* Endosteal hyperostosis, Worth type - See Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
* Eng Strom syndrome
* Engelhard Yatziv syndrome
* Engelmann disease - See Camurati-Engelmann disease
* Engraftment syndrome
* Eng-Strom syndrome - See Finger locking recurrent with intrauterine growth retardation and proportionate short stature
* Enhanced S-cone syndrome - See Goldmann-Favre syndrome
* Enlarged heart and poor heart function - See Keshan disease
* Enlarged tongue - See Macroglossia
* Enlarged vestibular aqueduct syndrome
* Enolase 3 deficiency - See Glycogen storage disease type 13
* Enolase deficiency type 1
* Enolase deficiency type 2
* Enolase deficiency type 3
* Enolase deficiency type 4
* Enolase-beta deficiency - See Glycogen storage disease type 13
* Enteric fever - See Typhoid fever
*   Enteritis - See Crohn's disease
* Enterobiasis
* Enterobius vermicularis infection - See Enterobiasis
* Enterocolitis, necrotizing - See Necrotizing enterocolitis
* Enterocyte cobalamin malabsorption - See Imerslund-Grasbeck syndrome
* Enteropathica
* Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* Enteropathy-associated T-cell lymphoma
* Enterovirus antenatal infection
* Enthesitis related arthritis, juvenile - See Enthesitis-related juvenile idiopathic arthritis
* Enthesitis-related juvenile idiopathic arthritis
* Envenomization by bothrops lanceolatus
* Envenomization by the Martinique lancehead viper - See Envenomization by bothrops lanceolatus
* EOC - See Ovarian epithelial cancer
* EOCA - See Harding ataxia
* EOCA-HA - See Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* EOF - See Polyostotic osteolytic dysplasia, hereditary expansile
* Eosinophilia-myalgia syndrome
* Eosinophilic angiocentric fibrosis - See EAF
* Eosinophilic cellulitis - See Wells syndrome
* Eosinophilic cryptitis
* Eosinophilic cystitis
* Eosinophilic enteritis - See Eosinophilic enteropathy
* Eosinophilic enteropathy
* Eosinophilic esophagitis - See Eosinophilic enteropathy
* Eosinophilic fasciitis
* Eosinophilic folliculitis, pustular - See Eosinophilic pustular folliculitis
* Eosinophilic gastritis - See Eosinophilic enteropathy
* Eosinophilic gastroenteritis - See Eosinophilic enteropathy
* Eosinophilic gastroenteropathy - See Eosinophilic enteropathy
* Eosinophilic glassy cell hepatoma - See Fibrolamellar hepatocellular carcinoma
* Eosinophilic granuloma (formerly) - See Langerhans cell histiocytosis
* Eosinophilic granuloma of soft tissue - See Kimura disease
* Eosinophilic granulomatous vasculitis - See Churg Strauss syndrome
* Eosinophilic hepatocellular carcinoma with lamellar fibrosis - See Fibrolamellar hepatocellular carcinoma
* Eosinophilic hyperplastic lymphogranuloma - See Kimura disease
* Eosinophilic idiopathic chronic pneumopathy - See Carrington syndrome
* Eosinophilic lymphofollicular granuloma - See Kimura disease
* Eosinophilic lymphofolliculosis - See Kimura disease
* Eosinophilic mastitis
* Eosinophilic pustular folliculitis
* EOTD - See Dystonia 1
* EPEMA syndrome - See Ethylmalonic encephalopathy
* Ependymoblastoma - See Embryonal tumor with multilayered rosettes
* Ependymoma
* Ependymoma, familial - See Ependymoma
* EPF - See Eosinophilic pustular folliculitis
* Epidemic typhus - See Typhus
* Epidermal nevus vitamin D resistant rickets
* Epidermodysplasia verruciformis
*   Epidermoid carcinoma - See Squamous cell carcinoma
* Epidermolysa bullosa simplex and limb girdle muscular dystrophy - See Epidermolysa bullosa simplex with muscular dystrophy
* Epidermolysa bullosa simplex with muscular dystrophy
* Epidermolysis bullosa
* Epidermolysis bullosa acquisita
* Epidermolysis bullosa atrophicans - See Junctional epidermolysis bullosa
* Epidermolysis bullosa dystrophica - See Dystrophic epidermolysis bullosa
* Epidermolysis bullosa dystrophica, autosomal dominant - See Generalized dominant dystrophic epidermolysis bullosa
* Epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly) - See Generalized dominant dystrophic epidermolysis bullosa
* Epidermolysis bullosa dystrophica, dominant neonatal form - See Transient bullous dermolysis of the newborn
* Epidermolysis bullosa dystrophica, Pasini type (formerly) - See Generalized dominant dystrophic epidermolysis bullosa
* Epidermolysis bullosa herpetiformis, Dowling-Meara type - See Epidermolysis bullosa simplex, Dowling-Meara type
* Epidermolysis bullosa intraepidermic - See Epidermolysis bullosa simplex
* Epidermolysis bullosa junctionalis with pyloric atresia - See Junctional epidermolysis bullosa with pyloric atresia
* Epidermolysis bullosa junctionalis, disentis type - See Junctional epidermolysis bullosa, non-Herlitz type
* Epidermolysis bullosa junctionalis, non-Herlitz type - See Junctional epidermolysis bullosa, non-Herlitz type
* Epidermolysis bullosa junctionalis, progressive - See Junctional epidermolysis bullosa, non-Herlitz type
* Epidermolysis bullosa junctionalis, severe nonlethal - See Junctional epidermolysis bullosa, non-Herlitz type
* Epidermolysis bullosa letalis - See Junctional epidermolysis bullosa, Herlitz type
* Epidermolysis bullosa macular type - See Bullous dystrophy hereditary macular type
* Epidermolysis bullosa of hands and feet - See Epidermolysis bullosa simplex, localized
* Epidermolysis bullosa simplex
* Epidermolysis bullosa simplex - limb girdle muscular dystrophy - See Epidermolysa bullosa simplex with muscular dystrophy
* Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders - See Epidermolysis bullosa, late-onset localized junctional, with mental retardation
* Epidermolysis bullosa simplex of palms and soles - See Epidermolysis bullosa simplex, localized
* Epidermolysis bullosa simplex with mottled pigmentation
* Epidermolysis bullosa simplex, Dowling-Meara type
* Epidermolysis bullosa simplex, generalized
* Epidermolysis bullosa simplex, generalized non-Dowling-Meara - See Epidermolysis bullosa simplex, generalized
* Epidermolysis bullosa simplex, herpetiformis - See Epidermolysis bullosa simplex, Dowling-Meara type
* Epidermolysis bullosa simplex, Koebner type - See Epidermolysis bullosa simplex, generalized
* Epidermolysis bullosa simplex, localized
* Epidermolysis bullosa simplex, Ogna type
* Epidermolysis bullosa simplex, Weber-Cockayne type - See Epidermolysis bullosa simplex, localized
* Epidermolysis bullosa with pyloric atresia - See Junctional epidermolysis bullosa with pyloric atresia
* Epidermolysis bullosa, dermolytic - See Dystrophic epidermolysis bullosa
* Epidermolysis bullosa, generalized atrophic benign - See Junctional epidermolysis bullosa, non-Herlitz type
* Epidermolysis bullosa, junctional - See Junctional epidermolysis bullosa
* Epidermolysis bullosa, junctional, Herlitz type - See Junctional epidermolysis bullosa, Herlitz type
* Epidermolysis bullosa, junctional, Herlitz-Pearson type - See Junctional epidermolysis bullosa, Herlitz type
* Epidermolysis bullosa, junctional, non-Herlitz type - See Junctional epidermolysis bullosa, non-Herlitz type
* Epidermolysis bullosa, late-onset localized junctional, with mental retardation
* Epidermolysis bullosa, lethal acantholytic
* Epidermolysis bullosa, pretibial
* Epidermolytic hyperkeratosis
* Epidermolytic palmoplantar keratoderma Vorner type - See Palmoplantar keratoderma, epidermolytic
* Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy - See Cardiomyopathy dilated with woolly hair and keratoderma
* Epilepsy - microcephaly - skeletal dysplasia - See Battaglia Neri syndrome
* Epilepsy and mental retardation limited to females - See PCDH19-related female-limited epilepsy
* Epilepsy and yellow teeth - See Kohlschutter Tonz syndrome
* Epilepsy benign neonatal dominant form
* Epilepsy benign neonatal recessive form
* Epilepsy dementia amelogenesis imperfecta - See Kohlschutter Tonz syndrome
* Epilepsy juvenile absence
* Epilepsy mental deterioration Finnish type
* Epilepsy occipital calcifications
* Epilepsy progressive myoclonic 2 - See Lafora disease
* Epilepsy progressive myoclonic type 3
* Epilepsy syndrome, infantile-onset symptomatic - See Amish infantile epilepsy syndrome
* Epilepsy telangiectasia
* Epilepsy with bilateral occipital calcifications - See Epilepsy occipital calcifications
* Epilepsy with myoclonic-astatic seizures - See Myoclonic astatic epilepsy
* Epilepsy with myoclono-astatic crisis - See Myoclonic astatic epilepsy
* Epilepsy, ataxia, sensorineural deafness and tubulopathy - See SeSAME syndrome
* Epilepsy, benign neonatal, with Myokymia - See Myokymia with neonatal epilepsy
* Epilepsy, benign neonatal-infantile - See Benign familial neonatal-infantile seizures
* Epilepsy, benign occipital
* Epilepsy, familial temporal lobe - See Temporal epilepsy, familial
* Epilepsy, female restricted, with mental retardation - See PCDH19-related female-limited epilepsy
* Epilepsy, nocturnal, frontal lobe type
* Epilepsy, partial, familial
* Epilepsy, progressive myoclonic type 1 - See Unverricht-Lundborg disease
* Epilepsy, progressive myoclonus 1 - See Unverricht-Lundborg disease
* Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
* Epileptic encephalopathy Lennox-Gastaut type - See Lennox-Gastaut syndrome
* Epileptic encephalopathy, early infantile, 10 - See Microcephaly, seizures, and developmental delay
* Epileptic encephalopathy, early infantile, 9 - See PCDH19-related female-limited epilepsy
* Epimetaphyseal dysplasia cataract
* Epimetaphyseal skeletal dysplasia
* Epiphyseal dysplasia dysmorphism camptodactyly
* Epiphyseal dysplasia Fairbank type - See Fairbank disease
* Epiphyseal dysplasia hearing loss dysmorphism
* Epiphyseal dysplasia multiple 1 - See Multiple epiphyseal dysplasia 1
* Epiphyseal dysplasia multiple 2 - See Multiple epiphyseal dysplasia 2
* Epiphyseal dysplasia multiple 3 - See Multiple epiphyseal dysplasia 3
* Epiphyseal dysplasia multiple 4 - See Multiple epiphyseal dysplasia 4
* Epiphyseal dysplasia multiple 5 - See Multiple epiphyseal dysplasia 5
* Epiphyseal dysplasia multiple with early-onset diabetes mellitus
* Epiphyseal dysplasia, microcephaly and nystagmus - See Lowry Wood syndrome
* Epiphyseal dysplasia, multiple - See Multiple epiphyseal dysplasia
* Epiphyseal stippling with osteoclastic hyperplasia - See Pacman dysplasia
* Episkopi blindness - See Norrie disease
* Episodic ataxia
* Episodic Ataxia syndrome - See Episodic ataxia
* Episodic ataxia type 2 - See Episodic ataxia with nystagmus
* Episodic ataxia with nystagmus
* Episodic kinesigenic dyskinesia 2 - See Dystonia 19
* Epithelial basement membrane corneal dystrophy
* Epithelial myoepithelial carcinoma - See Epithelial-myoepithelial carcinoma
* Epithelial ovarian cancer - See Ovarian epithelial cancer
* Epithelial tumor of thymus - See Thymic epithelial tumor
* Epithelial-myoepithelial carcinoma
* Epithelioid sarcoma
* Epithelioma adenoides cysticum - See Multiple familial trichoepithelioma
* Epitheliopathy, acute posterior multifocal placoid pigment
* EPM 3 - See Epilepsy progressive myoclonic type 3
* EPM1 - See Unverricht-Lundborg disease
* EPM2 - See Lafora disease
* EPP - See Erythropoietic protoporphyria
* EPPK - See Palmoplantar keratoderma, epidermolytic
* EPRPDC - See Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
* EPS - See Elastosis perforans serpiginosa
* Epstein Barr virus infection, familial fatal - See X-linked lymphoproliferative syndrome
* Epstein syndrome - See MYH9 related thrombocytopenia
* Equine morbillivirus (formerly) - See Nipah virus encephalitis
* Erb-Goldflam syndrome - See Myasthenia gravis congenital
* Erdheim Chester disease - See Erdheim-Chester disease
* Erdheim cystic medial necrosis of aorta - See Cystic medial necrosis of aorta
* Erdheim disease - See Cystic medial necrosis of aorta
* Erdheim-Chester disease
* Ergotism - See St Anthony's fire
* Erlacher-Blount syndrome - See Blount disease
* Ermine phenotype
* ERMS - See Rhabdomyosarcoma embryonal
* Eronen-Somer-Gustafsson syndrome - See Digitorenocerebral syndrome
* Erosive adenomatosis of the nipple - See Florid papillomatosis of the nipple
* Erosive pustular dermatosis of the scalp
* Erosive vitreoretinopathy - See Wagner syndrome
* ERS - See Amelogenesis imperfecta nephrocalcinosis
* ERS - See Amelogenesis imperfecta hypoplastic type, IG
* ERVR - See Wagner syndrome
* Erysipelas
* Erythema elevatum diutinum
* Erythema migrans - See Geographic tongue
* Erythema multiforme
* Erythema multiforme bullosum - See Erythema multiforme
* Erythema multiforme major - See Stevens-Johnson syndrome
* Erythema nodosum of unknown etiology - See Erythema nodosum, idiopathic
* Erythema nodosum, familial - See Familial erythema nodosum
* Erythema nodosum, idiopathic
* Erythema polymorphe, erythema multiforme type - See Erythema multiforme
* Erythroblastic anemia - See Beta-thalassemia
* Erythroblastopenia, transient - See Transient erythroblastopenia of childhood
* Erythrocytosis autosomal dominant benign - See Familial erythrocytosis, 1
* Erythrocytosis familial, 1 - See Familial erythrocytosis, 1
* Erythroderma desquamativa of Leiner
* Erythroderma Desquamativum of Infancy - See Erythroderma desquamativa of Leiner
* Erythroderma lethal congenital
* Erythrogenesis imperfecta - See Diamond-Blackfan anemia
* Erythrohepatic protoporphyria - See Erythropoietic protoporphyria
* Erythroid 5-aminolevulinate synthase deficiency - See X-linked sideroblastic anemia
* Erythroid sarcoma (cell type) - See Myeloid sarcoma
* Erythrokeratoderma "en cocardes" - See Degos 'en cocarde' erythrokeratoderma
* Erythrokeratodermia - ataxia - See Spinocerebellar ataxia 34
* Erythrokeratodermia figurata, congenital familial, in plaques - See Keratoderma palmoplantaris transgrediens
* Erythrokeratodermia variabilis - See Erythrokeratodermia variabilis et progressiva
* Erythrokeratodermia variabilis et progressiva
* Erythrokeratodermia variabilis with erythema gyratum repens - See Keratoderma palmoplantaris transgrediens
* Erythrokeratodermia variabilis, Mendes da Costa type - See Erythrokeratodermia variabilis et progressiva
* Erythrokeratodermia with ataxia - See Spinocerebellar ataxia 34
* Erythrokeratodermia, progressive symmetric - See Erythrokeratodermia variabilis et progressiva
* Erythrokeratolysis hiemalis ichthyosis - See Keratolytic winter erythema
* Erythromelalgia
* Erythroplakia
* Erythropoietic protoporphyria
* Erythropoietic uroporphyria associated with myeloid malignancy
* ES - See Benign eccrine spiradenoma
* Escher Hirt syndrome
* Escobar syndrome - See Multiple pterygium syndrome Escobar type
* Escobar syndrome, type B
* Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis - See Escobar syndrome, type B
* Esophageal achalasia - See Achalasia
* Esophageal atresia
* Esophageal atresia coloboma talipes
* Esophageal atresia with or without tracheoesophageal fistula - See Tracheoesophageal fistula
* Esophageal cancer
* Esophageal cancer, childhood
* Esophageal varices
*   Esophagitis-peptic ulcer - See Barrett syndrome
* Esophagogastric and vulvar leiomyomatosis - See Leiomyoma of vulva and esophagus
* Esophagus cancer - See Esophageal cancer
* Esotropia
* ESS - See Endometrial stromal sarcoma
* ESS1 (formerly) - See Multiple self healing squamous epithelioma
*   Essential benign fructosuria - See Fructosuria
* Essential thrombocythemia
* Essential thrombocytosis - See Essential thrombocythemia
* Essential tremor
* Essential tremors, nystagmus and duodenal ulceration - See Tremors, nystagmus and duodenal ulcers
* EST - See Mediastinal endodermal sinus tumors
* Esthesioneuroblastoma
* ETANTR - See Embryonal tumor with multilayered rosettes
* Ethylmalonic encephalopathy
* Ethylmalonic-adipicaciduria - See Glutaric acidemia type II
* ETL1 - See Autosomal dominant partial epilepsy with auditory features
* ETM1 - See Tremor hereditary essential, 1
* ETM2 - See Tremor hereditary essential, 2
* ETMR - See Embryonal tumor with multilayered rosettes
* Eulenburg disease - See Paramyotonia congenita
* Eunuchoidism familial hypogonadotropic
* Eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH) - See Fertile eunuch syndrome
* EUOS - See Urethral obstruction sequence
* Evan syndrome - See Evans syndrome
* Evans syndrome
* Ewing family of tumors - See Ewing's family of tumors
* Ewing sarcoma - See Ewing's sarcoma
* Ewing tumor - See Ewing's sarcoma
* Ewing’s tumor of bone (type) - See Ewing's family of tumors
* Ewing's family of tumors
* Ewing's sarcoma
* Ewing's tumor - See Ewing's sarcoma
* Exaggerated startle reaction - See Hereditary hyperekplexia
* Exaggerated startle reflex - See Jumping Frenchmen of Maine
* Excess of mature unencapsulated fatty tissue in the pelvis - See Pelvic lipomatosis
* Exencephaly
* Exercise induced anaphylaxis
* Exercise induced hyperinsulinemic hypoglycemia - See Exercise-induced hyperinsulinemic hypoglycemia
* Exercise-induced hyperinsulinemic hypoglycemia
* Exertional headache
* Exfoliative dermatitis
* Exogenous lipoid pneumonia
* Exogenous ochronosis
* Exomphalos macroglossia gigantism syndrome - See Beckwith-Wiedemann syndrome
* Exophthalmic goiter - See Graves' disease
* Exostoses anetodermia brachydactyly type E
* Exostoses, multiple, type 1
* Exostoses, multiple, type 2
* Exostoses, multiple, type 3
* Expansile osteolysis, familial - See Polyostotic osteolytic dysplasia, hereditary expansile
* Experimental silicosis - See Silicosis
* 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
* Extra digits - See Polydactyly
* Extracranial arteriovenous malformation
* Extracranial AVM - See Extracranial arteriovenous malformation
* Extracranial germ cell tumor, childhood
* Extragonadal germ cell tumor
* Extrahepatic bile duct cancer - See Bile duct cancer
* Extrahepatic biliary atresia - See Biliary atresia extrahepatic
* Extramammary Paget disease - See Paget disease, extramammary
* Extramedullary anaplastic plasmacytoma (type) - See Anaplastic plasmacytoma
* Extramembranous glomerulonephritis - See Membranous nephropathy
* Extraosseous Ewing’s (tumor growing outside of the bone) (type) - See Ewing's family of tumors
* Extraovarian Brenner tumor of the vagina - See Brenner tumor of the vagina
* Extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia - See Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
* Extrasystoles short stature hyperpigmentation microcephaly
* Extreme hirsutism with gingival fibromatosis - See Gingival fibromatosis with hypertrichosis
* Extrinsic allergic pneumonia hypersensitivity Pneumonitis - See Alveolitis, extrinsic allergic
* Exudative retinopathy with bone marrow failure - See Revesz syndrome
* Exudative vitreoretinopathy, familial - See Familial exudative vitreoretinopathy
* Exulceratio simplex Dieulafoy - See Dieulafoy lesion
* Eye cancer, retinoblastoma - See Retinoblastoma
* Eye defects arachnodactyly cardiopathy - See Al Gazali syndrome
* Eyebrows duplication of, with stretchable skin and syndactyly
* Eyelashes, long with intellectual disability - See Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina