Disease Name Symbol Acronym
Eaf EF001 EAF
Eales Disease ELS001
Early Myoclonic Encephalopathy ERL001
Early Onset Absence Epilepsy ERL003
Early-onset Familial Alzheimer Disease ERL006 EOFAD
Early-onset Glaucoma ERL012
Early-onset Primary Dystonia (dyt1) ERL007 DYT1
Earwax, Wet/dry ERW001
Eastern Equine Encephalitis EST003
Eating Disorder ETN001
Ebd EBD001 EBD
Ebd Inversa EBD004
Ebd, Bart Type EBD002
Ebd, Localisata Variant EBD003
Ebola Hemorrhagic Fever EBL001
Ebstein Anomaly EBS001
Eccrine Adenocarcinoma ECC005
Eccrine Porocarcinoma ECC004
Echinococcosis ECH003
Echolalia ECH002
Eclampsia ECL001
Ecthyma ECT004
Ectodermal Dysplasia ECT006
Ectodermal Dysplasia-syndactyly Syndrome 1 ECT045
Ectodermal Dysplasia-syndactyly Syndrome 2 ECT041
Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant ECT040
Ectodermal Dysplasia, Anhidrotic, with T-cell Immunodeficiency ECT032
Ectodermal Dysplasia, Pure Hair-nail Type ECT047
Ectodermal Dysplasia/skin Fragility Syndrome ECT007
Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency ECT044
Ectomesenchymoma ECT002
Ectopia Lentis ECT008
Ectopia Lentis, Familial ECT038
Ectopia Lentis, Isolated ECT034
Ectopia Lentis, Isolated Autosomal Recessive ECT025
Ectopic Pregnancy ECT026
Ectopic Thymus ECT003
Ectrodactyly ECT010
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 ECT042
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ECT036
Ectropion ECT005
Eczema ECZ003
Eczema Herpeticum ECZ002
Edwards Syndrome EDW001
Eec Syndrome ECS001
Eec Syndrome-1 ECS002
Eem Syndrome EMS001
Egg Allergy EGG001
Ehlers-danlos Due to Tenascin X Deficiency EHL002
Ehlers-danlos Syndrome EHL001 EDS
Ehlers-danlos Syndrome Dermatosparaxis Type EHL012
Ehlers-danlos Syndrome Progeroid Type EHL015
Ehlers-danlos Syndrome Type Iv EHL009 EDS4
Ehlers-danlos Syndrome Type Via EHL019
Ehlers-danlos Syndrome Type Viia EHL020
Ehlers-danlos Syndrome Type Viib EHL021
Ehlers-danlos Syndrome, Cardiac Valvular Form EHL029
Ehlers-danlos Syndrome, Musculocontractural Type EHL025 ATCS
Ehlers-danlos Syndrome, Progeroid Form EHL026
Ehlers-danlos Syndrome, Type Viic EHL027
Ehlers-danlos Syndrome, Type Viii EHL028
Ehrlichiosis EHR002
Eiken Syndrome EKN001
Eisenmenger Syndrome ESN011
Elane-related Neutropenia ELN001
Elastosis Perforans Serpiginosa ELS002 EPS
Elephantiasis ELP001
Elliptocytosis ELL002
Elliptocytosis 2 ELL005 EL2
Elliptocytosis 3 ELL006 EL3
Elliptocytosis-1 ELL007
Ellis-van Creveld Syndrome ELL001 EVC
Embryonal Cancer EMB003
Embryonal Carcinoma EMB004
Embryonal Rhabdomyosarcoma EMB005 ERMS
Embryonal Sarcoma EMB007
Emerinopathy EMR002
Emery-dreifuss Muscular Dystrophy EMR001 EDMD
Emery-dreifuss Muscular Dystrophy, Ad EMR005
Emery-dreifuss Muscular Dystrophy, Ar EMR006
Emphysema EMP003
Emphysema Due to Aat Deficiency EMP007
Emphysema Due to Alpha-2-macroglobulin Deficiency EMP006
Emphysema-cirrhosis EMP005
Emphysema-cirrhosis, Due to Aat Deficiency EMP008
Emphysematous Cholecystitis EMP002
Empty Sella Syndrome EMP001
Enamel Caries ENM001
Enamel Erosion ENM002
Encapsulated Thymoma ENC001
Encephalitis ENC004
Encephalitozoonosis ENC003
Encephalocele ENC008
Encephaloceles ENC017
Encephalocraniocutaneous Lipomatosis ENC010 ECCL
Encephalomalacia ENC005
Encephalomyelitis ENC006
Encephalomyopathy ENC011
Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission ENC023
Encephalopathy, Acute Necrotizing 1 ENC020
Encephalopathy, Neonatal Severe ENC021
Encephalopathy, Progressive Mitochondrial, with Proximal Renal Tubulopathy Due to Cytochrome C Oxidase Deficiency ENC022
Encephalopathy, Thiamine-responsive ENC024
Enchondroma ENC014
Enchondromatosis ENC007
End Stage Renal Failure END030
End-stage Renal Disease, Nondiabetic, Susceptibility to END053
Endemic Goiter END028
Endemic Typhus END014
Endocardial Fibroelastosis END020
Endocarditis END033
Endocervical Carcinoma END029
Endocervicitis END016
Endocrine Diseases END054
Endocrine Gland Cancer END035
Endocrine-cerebroosteodysplasia END059
Endodermal Sinus Tumor END039
Endogenous Depression END040
Endolymphatic Hydrops END060
Endolymphatic Sac Tumor END051 ELST
Endometrial Adenocarcinoma END041
Endometrial Cancer END057
Endometrial Cancer, Familial END056
Endometrial Carcinoma END042
Endometrial Carcinoma, Somatic END058
Endometrial Clear Cell Adenocarcinoma END032
Endometrial Mucinous Adenocarcinoma END001
Endometrial Stromal Nodule END003
Endometrial Stromal Sarcoma END031 ESS
Endometrial Stromal Tumor END043
Endometrioid Ovary Carcinoma END002
Endometriosis END044
Endometriosis of Ovary END011
Endometriosis of Uterus END045
Endometritis END046
Endomyocardial Fibrosis END021 EMF
Endophthalmitis END047
Endosalpingiosis END007
Endotoxin Hyporesponsiveness END048
Endplate Acetylcholinesterase Deficiency END049
Enhanced S-cone Syndrome ENH001
Enlarged Parietal Foramina ENL009 FPP
Enlarged Vestibular Aqueduct ENL001
Enolase Deficiency ENL002
Enophthalmos ENP001
Enterobiasis ENT003
Enterocele ENT001
Enterokinase Deficiency ENT006
Enteropathica ENT007
Enteropathy-associated T-cell Lymphoma ENT008 EATCL
Enthesopathy ENT004
Entropion ENT005
Enuresis ENR001
Enuresis, Nocturnal, 1 ENR002
Enuresis, Nocturnal, 2 ENR003
Eosinophil Peroxidase Deficiency ESN009
Eosinophilia ESN007
Eosinophilia-myalgia Syndrome ESN002 EMS
Eosinophilic Cystitis ESN013
Eosinophilic Esophagitis ESN001
Eosinophilic Fasciitis ESN015 EF
Eosinophilic Gastritis ESN004
Eosinophilic Gastroenteritis ESN005
Eosinophilic Meningitis ESN006
Eosinophilic Myeloproliferative Disorder ESN010
Eosinophilic Pneumonia ESN008
Eosinophilic Pustular Folliculitis ESN016 EPF
Eosinophilic Variant of Chromophobe Renal Cell Carcinoma ESN003
Ependymoblastoma EPN001
Ependymoma EPN002
Epicondylitis EPC002
Epidemic Pleurodynia EPD011
Epidemic Typhus EPD015
Epidermal Appendage Tumor EPD010
Epidermal Nevus EPD037
Epidermodysplasia Verruciformis EPD001
Epidermolysis Bullosa EPD016
Epidermolysis Bullosa Acquisita EPD006 EBA
Epidermolysis Bullosa Dystrophica EPD009 DEB
Epidermolysis Bullosa Dystrophica, Ad EPD043
Epidermolysis Bullosa Dystrophica, Ar EPD044
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Modifier of EPD039
Epidermolysis Bullosa Inversa EPD020
Epidermolysis Bullosa of Hands and Feet EPD021
Epidermolysis Bullosa Pruriginosa EPD022
Epidermolysis Bullosa Simplex EPD003 EBS
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema EPD035
Epidermolysis Bullosa Simplex with Mottled Pigmentation EPD023
Epidermolysis Bullosa Simplex with Pyloric Atresia EPD040
Epidermolysis Bullosa Simplex, Dowling-meara Type EPD028
Epidermolysis Bullosa Simplex, Ogna Type EPD031 EBS1
Epidermolysis Bullosa Simplex, Recessive EPD042
Epidermolysis Bullosa with Pyloric Atresia EPD025 EB-PA
Epidermolysis Bullosa, Junctional, with Pyloric Stenosis EPD045
Epidermolysis Bullosa, Lethal Acantholytic EPD033 EBLA
Epidermolysis Bullosa, Pretibial EPD034
Epidermolytic Acanthoma EPD004
Epidermolytic Hyperkeratosis EPD002 BIE
Epidermolytic Palmoplantar Keratoderma EPD024 EPPK
Epididymis Adenocarcinoma EPD014
Epididymitis EPD046
Epididymo-orchitis EPD018
Epidural Abscess EPD005
Epidural Neoplasm EPD019
Epiglottitis EPG003
Epilepsia Partialis Continua EPL076
Epilepsies, Partial EPL030
Epilepsy Syndrome EPL002
Epilepsy with Generalized Tonic-clonic Seizures EPL001
Epilepsy with Neurodevelopmental Defects EPL080 EPND
Epilepsy, Childhood Absence, 1 EPL062
Epilepsy, Childhood Absence, Susceptibility to, 2 EPL018 ECA2
Epilepsy, Childhood Absence, Susceptibility to, 4 EPL043 ECA4
Epilepsy, Childhood Absence, Susceptibility to, 5 EPL044 ECA5
Epilepsy, Childhood Absence, Susceptibility to, 6 EPL019 ECA6
Epilepsy, Familial Adult Myoclonic, 3 EPL053
Epilepsy, Familial Mesial Temporal Lobe EPL047
Epilepsy, Female Restricted, with Mental Retardation EPL012 EFMR
Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 EPL067
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 EPL041
Epilepsy, Generalized, with Febrile Seizures Plus, Type 4 EPL036
Epilepsy, Hot Water, 1 EPL074
Epilepsy, Hot Water, 2 EPL075
Epilepsy, Idiopathic Generalized, 10 EPL039
Epilepsy, Idiopathic Generalized, Susceptibility to, 8 EPL020 EIG8
Epilepsy, Juvenile Absence, Susceptibility to, 1 EPL054 EJA1
Epilepsy, Juvenile Absence, Susceptibility to, 2 EPL065 EJA2
Epilepsy, Juvenile Myoclonic 3 EPL056
Epilepsy, Myoclonic, Benign Adult Familial EPL051
Epilepsy, Myoclonic, Benign Adult Familial, Type 2 EPL052
Epilepsy, Nocturnal Frontal Lobe, 1 EPL073
Epilepsy, Nocturnal Frontal Lobe, 3 EPL072
Epilepsy, Nocturnal Frontal Lobe, Type 2 EPL035
Epilepsy, Nocturnal Frontal Lobe, Type 4 EPL071
Epilepsy, Nocturnal, Frontal Lobe Type EPL013
Epilepsy, Occipitotemporal Lobe, and Migraine with Aura EPL049
Epilepsy, Partial, with Pericentral Spikes EPL050
Epilepsy, Partial, with Variable Foci EPL045
Epilepsy, Rolandic with Paroxysmal Exercise-induced Dystonia and Writer's Cramp EPL015
Epilepsy, X-linked, with Variable Learning Disabilities and Behavior Disorders EPL021
Epileptic Encephalopathy Lennox-gastaut Type EPL016
Epileptic Encephalopathy, Early Infantile, 1 EPL037 EIEE1
Epileptic Encephalopathy, Early Infantile, 11 EPL023
Epileptic Encephalopathy, Early Infantile, 12 EPL024
Epileptic Encephalopathy, Early Infantile, 2 EPL025 EIEE2
Epileptic Encephalopathy, Early Infantile, 3 EPL026 EIEE3
Epileptic Encephalopathy, Early Infantile, 4 EPL027 EIEE4
Epileptic Encephalopathy, Early Infantile, 5 EPL028 EIEE5
Epileptic Encephalopathy, Early Infantile, 7 EPL068
Epileptic Encephalopathy, Early Infantile, 8 EPL038
Epiphyseal Dysplasia EPP003
Epiphyseal Dysplasia, Multiple, with Myopathy EPP007
Epiphyseal Dysplasia, Multiple, with Myopia and Deafness EPP008
Episodic Ataxia EPS003 EA
Episodic Ataxia Type 2 EPS007 EA2
Episodic Ataxia Type 5 EPS009 EA5
Episodic Ataxia Type 6 EPS010
Episodic Ataxia with Nystagmus EPS008 EA2
Episodic Ataxia, Type 3 EPS014
Episodic Ataxia, Type 5 (3) 2 EPS011
Episodic Ataxia, Type 7 EPS015
Episodic Ataxia/myokymia Syndrome EPS004 EA1
Episodic Muscle Weakness EPS005
Episodic Muscle Weakness, X-linked EPS012
Epithelial Basement Membrane Corneal Dystrophy EPT014
Epithelial Ovarian Cancer EPT013 EOC
Epithelial-myoepithelial Carcinoma EPT010 EMC
Epithelioid Cell Melanoma EPT001
Epithelioid Leiomyosarcoma EPT011
Epithelioid Malignant Peripheral Nerve Sheath Tumor EPT008
Epithelioid Neurofibroma EPT006
Epithelioid Sarcoma EPT012
Epithelioid Trophoblastic Tumor EPT003
Epithelioma, Self-healing, Squamous 1, Ferguson-smith Type EPT016
Epstein Syndrome EPS006
Epstein-barr Virus Hepatitis EPS001
Epulis EPL003
Erb's Palsy ERB002
Erdheim-chester Disease ERD001 ECD
Erosive Vitreoretinopathy ERS001 ERVR
Erysipelas ERY004
Erysipeloid ERY001
Erythema Elevatum Diutinum ERY017
Erythema Infectiosum ERY002
Erythema Multiforme ERY003
Erythermalgia ERY011
Erythremia ERY012
Erythremias, Alpha- ERY026
Erythremias, Beta- ERY027
Erythrocyte Amp Deaminase Deficiency ERY039
Erythrocyte Lactate Transporter Defect ERY030
Erythrocytosis ERY013
Erythrokeratoderma ERY014
Erythrokeratodermia Variabilis ERY006
Erythrokeratodermia Variabilis 3 ERY028
Erythrokeratodermia Variabilis Et Progressiva ERY021 EKV
Erythrokeratodermia Variabilis with Erythema Gyratum Repens ERY015
Erythromelalgia ERY008
Erythropoietic Protoporphyria ERY009 EPP
Esophageal Atresia ESP020
Esophageal Atresia/tracheoesophageal Fistula ESP029
Esophageal Cancer ESP021
Esophageal Cancer, Somatic ESP037
Esophageal Candidiasis ESP018
Esophageal Carcinoma ESP022
Esophageal Carcinoma, Somatic ESP036
Esophageal Disease ESP023
Esophageal Squamous Cell Carcinoma ESP028
Esophageal Varix ESP002
Esophagitis ESP024
Esophagitis, Eosinophilic, 1 ESP035
Esophagitis, Eosinophilic, 2 ESP034
Esophagus Adenocarcinoma ESP025
Esophagus Melanoma ESP016
Esophagus Squamous Cell Carcinoma ESP027
Esotropia EST005
Essential Hypertension ESS002
Essential Thrombocythemia ESS003
Essential Tremor ESS001 ETM1
Esthesioneuroblastoma EST008
Estrogen Excess EST004
Estrogen Resistance EST007
Estrogen-receptor Negative Breast Cancer EST002
Estrogen-receptor Positive Breast Cancer EST001
Ethmoid Sinus Adenocarcinoma ETH001
Ethmoid Sinusitis ETH009
Ethylmalonic Encephalopathy ETH011 EME
Eumycotic Mycetoma EMY001
Eunuchism ENC002
Euthyroid Sick Syndrome ETH004
Evans' Syndrome EVN001
Ewing's Family of Tumors EWN002
Exanthem EXN002 RASH
Exanthema Subitum EXN001
Excessive Tearing EXC003
Exencephaly EXN003
Exercise Induced Anaphylaxis EXR002
Exercise-induced Hyperinsulinemic Hypoglycemia EXR003 HHF7
Exfoliation Syndrome EXF001
Exfoliative Ichthyosis EXF002
Exhibitionism EXH001
Exocrine Pancreatic Insufficiency EXC002
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis EXC004
Exophthalmos EXP004
Exostoses EXS002
Exostoses, Multiple, Type 1 EXS004
Exostoses, Multiple, Type 2 EXS005
Exostoses, Multiple, Type 3 EXS006
Exostosis EXS001
Exotropia EXT022
Exposure Keratitis EXP002
Exstrophy of the Bladder EXS007
Extragonadal Germ Cell Tumor EXT037
Extragonadal Seminoma EXT001
Extrahepatic Bile Duct Adenocarcinoma EXT027
Extrahepatic Bile Duct Carcinoma EXT040
Extrahepatic Cholestasis EXT006
Extramedullary Plasmacytoma EXT010
Extraosseous Ewing's Sarcoma EXT031
Extrapontine Myelinolysis EXT039
Extrapulmonary Tuberculosis EXT033 EPTB
Extraskeletal Chondroma EXT012
Extraskeletal Mesenchymal Chondrosarcoma EXT003
Extraskeletal Myxoid Chondrosarcoma EXT019
Extratemporal Epilepsy EXT009
Extrinsic Allergic Alveolitis EXT034
Exudative Vitreoretinopathy EXD001 FEVR
Exudative Vitreoretinopathy 4 EXD004
Exudative Vitreoretinopathy 5 EXD006
Exudative Vitreoretinopathy-3 EXD003
Exudative Vitreoretinopathy, X-linked EXD005
Eye Disease EYD002
Eyelid Carcinoma EYL002
Eyelid Neoplasm EYL001
Ezetimibe, Nonresponse to EZT001