Disease Name Symbol Acronym
Eaf EF001
Eales Disease ELS001
Ear Malformation ERM002
Early Congenital Syphilis ERL002
Early Invasive Cervical Adenocarcinoma ERL005
Early Myoclonic Encephalopathy ERL001
Early Onset Absence Epilepsy ERL003
Early Repolarization Associated with Ventricular Fibrillation ERL052
Early Yaws ERL004
Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation ERL023
Early-Onset Familial Alzheimer Disease ERL006
Early-Onset Generalized Dystonia ERL046
Early-Onset Generalized Limb-Onset Dystonia ERL030
Early-Onset Glaucoma ERL012
Early-Onset Nuclear Cataract ERL043
Early-Onset Parkinson's Disease ERL056
Early-Onset Posterior Subcapsular Cataract ERL036
Early-Onset Schizophrenia ERL020
Early-Onset, Autosomal Dominant Alzheimer Disease ERL029
Eastern Equine Encephalitis EST003
Eating Disorder ETN001
Ebola Hemorrhagic Fever EBL001
Ebstein Anomaly EBS001
Eccrine Acrospiroma ECC002
Eccrine Adenocarcinoma ECC005
Eccrine Papillary Adenocarcinoma ECC001
Eccrine Porocarcinoma ECC004
Eccrine Sweat Gland Neoplasm ECC008
Echinococcosis ECH003
Echinostomiasis ECH001
Echolalia ECH002
Eclampsia ECL001
Ecthyma ECT004
Ectodermal Dysplasia ECT006
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked ECT070
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant ECT061 ECTD10A
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ECT062
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant ECT072
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ECT058
Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type ECT094
Ectodermal Dysplasia 13, Hair/tooth Type ECT095
Ectodermal Dysplasia 4, Hair/nail Type ECT067
Ectodermal Dysplasia 5, Hair/nail Type ECT064
Ectodermal Dysplasia 6, Hair/nail Type ECT068
Ectodermal Dysplasia 7, Hair/nail Type ECT065
Ectodermal Dysplasia 8, Hair/tooth/nail Type ECT069
Ectodermal Dysplasia 9, Hair/nail Type ECT066
Ectodermal Dysplasia-Syndactyly Syndrome 1 ECT045
Ectodermal Dysplasia-Syndactyly Syndrome 2 ECT041
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema ECT103
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant ECT106
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome ECT102
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency ECT076
Ectodermal Dysplasia/short Stature Syndrome ECT073
Ectodermal Dysplasia/skin Fragility Syndrome ECT007
Ectomesenchymoma ECT002
Ectopia Lentis 1, Isolated, Autosomal Dominant ECT098 ECTOL1
Ectopia Lentis 2, Isolated, Autosomal Recessive ECT101
Ectopia Lentis Et Pupillae ECT033
Ectopic Cushing Syndrome ECT093
Ectopic Pregnancy ECT026
Ectopic Thymus ECT003
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 ECT100 EEC
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 ECT042
Ectropion ECT005
Eculizumab, Poor Response to ECL002
Eczema Herpeticum ECZ002
Edict Syndrome EDC001
Efavirenz, Poor Metabolism of EFV001
Efemp2-Related Cutis Laxa EFM001
Egasyn EGS001 ES22
Egg Allergy EGG001
Ehlers-Danlos Syndrome EHL001
Ehlers-Danlos Syndrome Progeroid Type EHL015
Ehlers-Danlos Syndrome Type 7b EHL090
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 EHL075 EDS7A
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 EHL087
Ehlers-Danlos Syndrome, Cardiac Valvular Type EHL061
Ehlers-Danlos Syndrome, Classic Type EHL033
Ehlers-Danlos Syndrome, Classic Type, 1 EHL073 EDS
Ehlers-Danlos Syndrome, Classic Type, 2 EHL074
Ehlers-Danlos Syndrome, Classic-Like EHL081
Ehlers-Danlos Syndrome, Classic-Like, 2 EHL089
Ehlers-Danlos Syndrome, Dermatosparaxis Type EHL079
Ehlers-Danlos Syndrome, Hypermobility Type EHL034 EDS3
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 EHL078
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 EHL084
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 EHL080
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 EHL086
Ehlers-Danlos Syndrome, Periodontal Type, 1 EHL071 EDSPD1
Ehlers-Danlos Syndrome, Periodontal Type, 2 EHL072
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 EHL076 EDSSLA
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 EHL085
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 EHL083
Ehlers-Danlos Syndrome, Vascular Type EHL052 EDS4
Ehlers-Danlos Syndrome, Vascular-Like Type EHL037
Ehlers-Danlos/osteogenesis Imperfecta Syndrome EHL036
Ehrlich Tumor Carcinoma EHR001
Ehrlichiosis EHR002
Eiken Syndrome EKN001
Eisenmenger Syndrome ESN011
Elastoma ELS005
Elastosis Perforans Serpiginosa ELS002
Elephantiasis ELP001
Elliptocytosis 1 ELL010
Elliptocytosis 2 ELL005
Elliptocytosis 3 ELL006
Ellis-Van Creveld Syndrome ELL001
Elsahy-Waters Syndrome ELS006
Emanuel Syndrome EMN001
Embryoma EMB002
Embryonal Carcinoma EMB004
Embryonal Rhabdomyosarcoma EMB005
Embryonal Sarcoma EMB007
Embryonal Testis Carcinoma EMB006
Embryonal Tumor with Multilayered Rosettes EMB015
Emerinopathy EMR002
Emery-Dreifuss Muscular Dystrophy EMR001
Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMR017
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant EMR018
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive EMR020
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant EMR014
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant EMR015
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant EMR019
Emery-Dreifuss Muscular Dystrophy, X-Linked EMR004
Emilin-1-Related Connective Tissue Disease EML001
Emphysematous Cholecystitis EMP002
Empty Sella Syndrome EMP001
Enamel Caries ENM001
Enamel Erosion ENM002
Encapsulated Thymoma ENC001
Encephalitis ENC004
Encephalitozoonosis ENC003
Encephalocele ENC008
Encephalocraniocutaneous Lipomatosis ENC010
Encephalomalacia ENC005
Encephalomyopathy ENC011
Encephalopathy ENC018
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 ENC057
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 ENC049
Encephalopathy, Acute, Infection-Induced 1 ENC060
Encephalopathy, Acute, Infection-Induced 2 ENC061
Encephalopathy, Acute, Infection-Induced 5 ENC062
Encephalopathy, Acute, Infection-Induced 6 ENC037
Encephalopathy, Acute, Infection-Induced 7 ENC063
Encephalopathy, Acute, Infection-Induced 8 ENC064
Encephalopathy, Acute, Infection-Induced 4 ENC056
Encephalopathy, Ethylmalonic ENC055
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies ENC039
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations ENC054
Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities ENC050
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity ENC059
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum ENC047
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy ENC046
Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy ENC048
Encephalopathy, Progressive, with or Without Lipodystrophy ENC038
Enchondroma ENC014
Enchondromatosis, Multiple, Ollier Type ENC044
End Stage Renal Failure END030
Endemic Goiter END028
Endemic Typhus END014
Endobronchial Lipoma END006
Endocardial Fibroelastosis END020
Endocarditis END033
Endocardium Disease END074
Endocervical Adenocarcinoma END075
Endocervical Carcinoma END029
Endocervicitis END016
Endocrine Exophthalmos END034
Endocrine Gland Cancer END035
Endocrine Organ Benign Neoplasm END036
Endocrine Pancreas Disease END038
Endocrine-Cerebroosteodysplasia END059
Endodermal Sinus Tumor END039
Endogenous Depression END040
Endolymphatic Sac Tumor END051
Endometrial Adenocarcinoma END041
Endometrial Adenosquamous Carcinoma END015
Endometrial Cancer END057
Endometrial Clear Cell Adenocarcinoma END032
Endometrial Disease END080
Endometrial Mucinous Adenocarcinoma END001
Endometrial Small Cell Carcinoma END013
Endometrial Squamous Cell Carcinoma END025
Endometrial Stromal Nodule END003
Endometrial Stromal Sarcoma END031
Endometrial Transitional Cell Carcinoma END024
Endometrioid Ovary Carcinoma END002
Endometriosis END044
Endometriosis 1 END071
Endometriosis of Ovary END011
Endometriosis of Uterus END045
Endometritis END046
Endometrium Carcinoma in Situ END018
Endomyocardial Fibrosis END021
Endophthalmitis END047
Endosalpingiosis END007
Endosteal Hyperostosis, Autosomal Dominant END081
Endotheliitis END072
Engraftment Syndrome ENG004
Enhanced S-Cone Syndrome ENH001
Enophthalmos ENP001
Enterobiasis ENT003
Enterocele ENT001
Enterocolitis ENT011
Enterokinase Deficiency ENT006
Enteropathica ENT007
Enteropathy-Associated T-Cell Lymphoma ENT008
Enthesopathy ENT004
Entropion ENT005
Eosinophil Peroxidase Deficiency ESN009
Eosinophilia-Myalgia Syndrome ESN002
Eosinophilia, Familial ESN023
Eosinophilic Colitis ESN022
Eosinophilic Cystitis ESN013
Eosinophilic Fasciitis ESN015
Eosinophilic Gastritis ESN004
Eosinophilic Gastroenteritis ESN005
Eosinophilic Granuloma ESN017
Eosinophilic Granulomatosis with Polyangiitis ESN020
Eosinophilic Meningitis ESN006
Eosinophilic Pneumonia ESN008
Eosinophilic Pustular Folliculitis ESN016
Eosinophilic Variant of Chromophobe Renal Cell Carcinoma ESN003
Ependymoblastoma EPN001
Ependymoma EPN002
Epicanthus EPC005
Epicardium Cancer EPC001
Epicondylitis EPC002
Epidemic Pleurodynia EPD011
Epidemic Typhus EPD015
Epidermal Appendage Tumor EPD010
Epidermodysplasia Verruciformis EPD001
Epidermoid Cysts EPD070
Epidermolysa Bullosa Simplex with Muscular Dystrophy EPD027
Epidermolysis Bullosa EPD016
Epidermolysis Bullosa Acquisita EPD006
Epidermolysis Bullosa Dystrophica EPD009
Epidermolysis Bullosa Dystrophica, Autosomal Dominant EPD071
Epidermolysis Bullosa Dystrophica, Autosomal Recessive EPD076
Epidermolysis Bullosa Dystrophica, Pretibial EPD072
Epidermolysis Bullosa Junctionalis with Pyloric Atresia EPD077
Epidermolysis Bullosa Pruriginosa EPD022
Epidermolysis Bullosa Simplex EPD003
Epidermolysis Bullosa Simplex Superficialis EPD052
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema EPD035
Epidermolysis Bullosa Simplex with Mottled Pigmentation EPD023
Epidermolysis Bullosa Simplex with Muscular Dystrophy EPD050
Epidermolysis Bullosa Simplex with Nail Dystrophy EPD064
Epidermolysis Bullosa Simplex with Pyloric Atresia EPD040
Epidermolysis Bullosa Simplex, Autosomal Recessive 1 EPD080
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 EPD068
Epidermolysis Bullosa Simplex, Dowling-Meara Type EPD028
Epidermolysis Bullosa Simplex, Generalized EPD029
Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss EPD067
Epidermolysis Bullosa Simplex, Localized EPD030
Epidermolysis Bullosa Simplex, Ogna Type EPD031
Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails EPD074
Epidermolysis Bullosa with Pyloric Atresia EPD025
Epidermolysis Bullosa, Junctional, Herlitz Type EPD061
Epidermolysis Bullosa, Junctional, Non-Herlitz Type EPD062
Epidermolysis Bullosa, Lethal Acantholytic EPD033
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive EPD055
Epidermolytic Acanthoma EPD004
Epidermolytic Hyperkeratosis EPD002 EHK
Epidermolytic Nevus EPD082
Epididymis Adenocarcinoma EPD014
Epididymis Cancer EPD017
Epididymitis EPD046
Epididymo-Orchitis EPD018
Epidural Abscess EPD005
Epidural Neoplasm EPD019
Epiglottis Neoplasm EPG001
Epiglottitis EPG003
Epignathus EPG004
Epilepsy EPL164
Epilepsy with Generalized Tonic-Clonic Seizures EPL001
Epilepsy-Aphasia Spectrum EPL170
Epilepsy, Childhood Absence 1 EPL200
Epilepsy, Childhood Absence 2 EPL132
Epilepsy, Childhood Absence 5 EPL136
Epilepsy, Childhood Absence 6 EPL137
Epilepsy, Early-Onset, Vitamin B6-Dependent EPL166
Epilepsy, Familial Adult Myoclonic, 1 EPL201
Epilepsy, Familial Adult Myoclonic, 2 EPL203
Epilepsy, Familial Adult Myoclonic, 3 EPL053
Epilepsy, Familial Adult Myoclonic, 4 EPL107
Epilepsy, Familial Adult Myoclonic, 5 EPL103
Epilepsy, Familial Focal, with Variable Foci 1 EPL196
Epilepsy, Familial Focal, with Variable Foci 2 EPL187
Epilepsy, Familial Focal, with Variable Foci 3 EPL192
Epilepsy, Familial Focal, with Variable Foci 4 EPL220
Epilepsy, Familial Temporal Lobe, 1 EPL114
Epilepsy, Familial Temporal Lobe, 2 EPL115
Epilepsy, Familial Temporal Lobe, 3 EPL128
Epilepsy, Familial Temporal Lobe, 4 EPL113
Epilepsy, Familial Temporal Lobe, 5 EPL081
Epilepsy, Familial Temporal Lobe, 6 EPL124
Epilepsy, Familial Temporal Lobe, 7 EPL150
Epilepsy, Familial Temporal Lobe, 8 EPL152
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation EPL118
Epilepsy, Hearing Loss, and Mental Retardation Syndrome EPL149
Epilepsy, Hot Water, 1 EPL074
Epilepsy, Hot Water, 2 EPL075
Epilepsy, Idiopathic Generalized EPL140
Epilepsy, Idiopathic Generalized 10 EPL209
Epilepsy, Idiopathic Generalized 11 EPL084
Epilepsy, Idiopathic Generalized 12 EPL098
Epilepsy, Idiopathic Generalized 13 EPL205
Epilepsy, Idiopathic Generalized 14 EPL165
Epilepsy, Idiopathic Generalized 2 EPL092
Epilepsy, Idiopathic Generalized 3 EPL091
Epilepsy, Idiopathic Generalized 4 EPL089
Epilepsy, Idiopathic Generalized 5 EPL090
Epilepsy, Idiopathic Generalized 7 EPL093
Epilepsy, Idiopathic Generalized 8 EPL208
Epilepsy, Idiopathic Generalized 9 EPL086
Epilepsy, Juvenile Absence 1 EPL133
Epilepsy, Juvenile Myoclonic 10 EPL217
Epilepsy, Juvenile Myoclonic 9 EPL186
Epilepsy, Myoclonic Juvenile EPL198
Epilepsy, Nocturnal Frontal Lobe, 1 EPL073
Epilepsy, Nocturnal Frontal Lobe, 2 EPL202
Epilepsy, Nocturnal Frontal Lobe, 3 EPL072
Epilepsy, Nocturnal Frontal Lobe, 4 EPL204
Epilepsy, Nocturnal Frontal Lobe, 5 EPL096
Epilepsy, Partial, with Pericentral Spikes EPL050
Epilepsy, Progressive Myoclonic 7 EPL134
Epilepsy, Progressive Myoclonic, 10 EPL188
Epilepsy, Progressive Myoclonic, 1b EPL207
Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions EPL206
Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure EPL199
Epilepsy, Progressive Myoclonic, 6 EPL210
Epilepsy, Progressive Myoclonic, 8 EPL155
Epilepsy, Progressive Myoclonic, 9 EPL154
Epilepsy, Pyridoxine-Dependent EPL131
Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp EPL138
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders EPL021
Epileptic Encephalopathy, Childhood-Onset EPL116
Epileptic Encephalopathy, Early Infantile, 1 EPL037
Epileptic Encephalopathy, Early Infantile, 11 EPL023
Epileptic Encephalopathy, Early Infantile, 12 EPL024
Epileptic Encephalopathy, Early Infantile, 13 EPL082
Epileptic Encephalopathy, Early Infantile, 14 EPL097
Epileptic Encephalopathy, Early Infantile, 15 EPL099
Epileptic Encephalopathy, Early Infantile, 16 EPL117
Epileptic Encephalopathy, Early Infantile, 17 EPL119
Epileptic Encephalopathy, Early Infantile, 18 EPL102
Epileptic Encephalopathy, Early Infantile, 19 EPL126
Epileptic Encephalopathy, Early Infantile, 2 EPL025
Epileptic Encephalopathy, Early Infantile, 21 EPL127
Epileptic Encephalopathy, Early Infantile, 23 EPL123
Epileptic Encephalopathy, Early Infantile, 24 EPL125
Epileptic Encephalopathy, Early Infantile, 25 EPL129
Epileptic Encephalopathy, Early Infantile, 26 EPL130
Epileptic Encephalopathy, Early Infantile, 27 EPL135
Epileptic Encephalopathy, Early Infantile, 28 EPL139
Epileptic Encephalopathy, Early Infantile, 29 EPL153
Epileptic Encephalopathy, Early Infantile, 3 EPL026
Epileptic Encephalopathy, Early Infantile, 30 EPL157
Epileptic Encephalopathy, Early Infantile, 31 EPL151
Epileptic Encephalopathy, Early Infantile, 32 EPL146
Epileptic Encephalopathy, Early Infantile, 33 EPL156
Epileptic Encephalopathy, Early Infantile, 34 EPL159
Epileptic Encephalopathy, Early Infantile, 35 EPL193
Epileptic Encephalopathy, Early Infantile, 36 EPL169
Epileptic Encephalopathy, Early Infantile, 37 EPL189
Epileptic Encephalopathy, Early Infantile, 38 EPL171
Epileptic Encephalopathy, Early Infantile, 39 EPL185
Epileptic Encephalopathy, Early Infantile, 4 EPL027
Epileptic Encephalopathy, Early Infantile, 40 EPL177
Epileptic Encephalopathy, Early Infantile, 41 EPL180
Epileptic Encephalopathy, Early Infantile, 42 EPL172
Epileptic Encephalopathy, Early Infantile, 43 EPL175
Epileptic Encephalopathy, Early Infantile, 44 EPL181
Epileptic Encephalopathy, Early Infantile, 45 EPL174
Epileptic Encephalopathy, Early Infantile, 46 EPL176
Epileptic Encephalopathy, Early Infantile, 47 EPL173
Epileptic Encephalopathy, Early Infantile, 48 EPL191
Epileptic Encephalopathy, Early Infantile, 49 EPL190
Epileptic Encephalopathy, Early Infantile, 5 EPL028
Epileptic Encephalopathy, Early Infantile, 50 EPL183
Epileptic Encephalopathy, Early Infantile, 51 EPL178
Epileptic Encephalopathy, Early Infantile, 52 EPL179
Epileptic Encephalopathy, Early Infantile, 53 EPL195
Epileptic Encephalopathy, Early Infantile, 54 EPL182
Epileptic Encephalopathy, Early Infantile, 55 EPL194
Epileptic Encephalopathy, Early Infantile, 56 EPL211
Epileptic Encephalopathy, Early Infantile, 57 EPL213
Epileptic Encephalopathy, Early Infantile, 58 EPL215
Epileptic Encephalopathy, Early Infantile, 59 EPL216
Epileptic Encephalopathy, Early Infantile, 6 EPL184
Epileptic Encephalopathy, Early Infantile, 60 EPL218
Epileptic Encephalopathy, Early Infantile, 61 EPL219
Epileptic Encephalopathy, Early Infantile, 62 EPL221
Epileptic Encephalopathy, Early Infantile, 63 EPL222
Epileptic Encephalopathy, Early Infantile, 64 EPL223
Epileptic Encephalopathy, Early Infantile, 65 EPL224
Epileptic Encephalopathy, Early Infantile, 7 EPL068
Epileptic Encephalopathy, Early Infantile, 8 EPL038
Epileptic Encephalopathy, Early Infantile, 9 EPL029
Epileptic Encephalopathy, Infantile or Early Childhood, 1 EPL212
Epileptic Encephalopathy, Infantile or Early Childhood, 2 EPL214
Epimerase Deficiency Galactosemia EPM005
Epiphyseal Chondrodysplasia, Miura Type EPP011
Epiphyseal Dysplasia, Microcephaly, and Nystagmus EPP020
Epiphyseal Dysplasia, Multiple, 1 EPP017
Epiphyseal Dysplasia, Multiple, 2 EPP012
Epiphyseal Dysplasia, Multiple, 3 EPP015
Epiphyseal Dysplasia, Multiple, 4 EPP014
Epiphyseal Dysplasia, Multiple, 5 EPP013
Epiphyseal Dysplasia, Multiple, 6 EPP009
Epiphyseal Dysplasia, Multiple, 7 EPP026
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus EPP024
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness EPP022
Episodic Angioedema with Eosinophilia EPS038
Episodic Ataxia EPS003
Episodic Ataxia, Type 1 EPS042
Episodic Ataxia, Type 2 EPS035 EA2
Episodic Ataxia, Type 3 EPS014
Episodic Ataxia, Type 5 EPS034
Episodic Ataxia, Type 6 EPS017
Episodic Ataxia, Type 7 EPS015
Episodic Ataxia, Type 8 EPS033
Episodic Kinesigenic Dyskinesia 1 EPS030 EKD1
Episodic Kinesigenic Dyskinesia 2 EPS013
Episodic Muscle Weakness, X-Linked EPS012
Episodic Pain Syndrome, Familial, 1 EPS039
Episodic Pain Syndrome, Familial, 2 EPS027
Episodic Pain Syndrome, Familial, 3 EPS028
Epispadias EPS026
Epithelial and Subepithelial Dystrophy EPT023
Epithelial Basement Membrane Dystrophy EPT025
Epithelial Malignant Thymoma EPT007
Epithelial Predominant Wilms' Tumor EPT005
Epithelial Recurrent Erosion Dystrophy EPT021 ERED
Epithelial-Myoepithelial Carcinoma EPT010
Epithelial-Stromal Tgfbi Dystrophy EPT024
Epithelioid Cell Melanoma EPT001
Epithelioid Cell Synovial Sarcoma EPT009
Epithelioid Hemangioendothelioma EPT020
Epithelioid Leiomyosarcoma EPT011
Epithelioid Malignant Peripheral Nerve Sheath Tumor EPT008
Epithelioid Neurofibroma EPT006
Epithelioid Sarcoma EPT012
Epithelioid Trophoblastic Tumor EPT003
Epstein-Barr Virus Hepatitis EPS001
Epstein-Barr Virus-Associated Gastric Carcinoma EPS023
Epulis EPL003
Equatorial Staphyloma EQT001
Erdheim-Chester Disease ERD001
Erysipelas ERY004
Erysipeloid ERY001
Erythema Elevatum Diutinum ERY017
Erythema Infectiosum ERY002
Erythema Multiforme ERY003
Erythematosquamous Dermatosis ERY005
Erythermalgia, Primary ERY029
Erythrasma ERY010
Erythrocyte Amp Deaminase Deficiency ERY039
Erythrocyte Galactose Epimerase Deficiency ERY041
Erythrocyte Lactate Transporter Defect ERY030
Erythrocytosis, Familial, 1 ERY058
Erythrocytosis, Familial, 2 ERY048
Erythrocytosis, Familial, 3 ERY031
Erythrocytosis, Familial, 4 ERY032
Erythrocytosis, Familial, 5 ERY063
Erythrocytosis, Familial, 6 ERY064
Erythrocytosis, Familial, 7 ERY065
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige ERY061
Erythroderma, Ichthyosiform, Congenital Reticular ERY060
Erythrokeratodermia Variabilis Et Progressiva 1 ERY053
Erythrokeratodermia Variabilis Et Progressiva 2 ERY054
Erythrokeratodermia Variabilis Et Progressiva 3 ERY055
Erythrokeratodermia Variabilis Et Progressiva 4 ERY056
Erythrokeratodermia Variabilis Et Progressiva 5 ERY062
Erythrokeratodermia-Cardiomyopathy Syndrome ERY052
Erythromelalgia ERY008
Erythroplakia ERY023
Esophageal Adenoid Cystic Carcinoma ESP012
Esophageal Adenosquamous Carcinoma ESP006
Esophageal Atresia ESP020
Esophageal Atresia/tracheoesophageal Fistula ESP029
Esophageal Basaloid Squamous Cell Carcinoma ESP010
Esophageal Cancer ESP021
Esophageal Cancer, Childhood ESP031
Esophageal Candidiasis ESP018
Esophageal Disease ESP023
Esophageal Neuroendocrine Tumor ESP009
Esophageal Tuberculosis ESP001
Esophageal Varix ESP002
Esophagitis ESP024
Esophagitis, Eosinophilic, 1 ESP035
Esophagitis, Eosinophilic, 2 ESP034
Esophagus Adenocarcinoma ESP025
Esophagus Carcinoma in Situ ESP005
Esophagus Sarcoma ESP026
Esophagus Squamous Cell Carcinoma ESP027
Esotropia EST005
Essential Pentosuria ESS007
Essential Thrombocythemia ESS003
Essential Tremor ESS001
Estrogen Excess EST004
Estrogen Resistance EST007
Estrogen-Receptor Negative Breast Cancer EST002
Estrogen-Receptor Positive Breast Cancer EST001
Ethmoid Sinus Adenocarcinoma ETH001
Ethmoid Sinus Cancer ETH008
Ethmoid Sinusitis ETH009
Ethylene Glycol Poisoning ETH012
Eukaryotic Translation Elongation Factor 1 Alpha-1-Like 14 EKR001
Eumycotic Mycetoma EMY001
Euryblepharon ERY043
Eustachian Tube Disease EST006
Euthyroid Sick Syndrome ETH004
Evans' Syndrome EVN001
Even-Plus Syndrome EVN003
Ewing Sarcoma EWN003
Ewing's Family of Tumors EWN002
Exanthem EXN002
Exanthema Subitum EXN001
Excessive Tearing EXC003
Exencephaly EXN003
Exercise Intolerance, Riboflavin-Responsive EXR006
Exercise-Induced Anaphylaxis EXR007
Exercise-Induced Malignant Hyperthermia EXR008
Exfoliation Syndrome EXF001
Exfoliative Ichthyosis EXF002
Exhibitionism EXH001
Exocervical Carcinoma EXC001
Exocrine Pancreatic Insufficiency EXC002
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis EXC004
Exophthalmic Ophthalmoplegia EXP003
Exophthalmos EXP004
Exostoses, Multiple, Type I EXS019
Exostoses, Multiple, Type Ii EXS020
Exostoses, Multiple, Type Iii EXS021
Exostosis EXS001
Exotropia EXT022
Exposure Keratitis EXP002
Expressive Language Disorder EXP001
Exstrophy of Bladder EXS017
External Auditory Canal Aplasia/hypoplasia EXT043
External Ear Carcinoma EXT023
External Ear Disease EXT056
Extra-Adrenal Pheochromocytoma EXT054
Extracardiac Rhabdomyoma EXT061
Extracranial Arteriovenous Malformation EXT051
Extracranial Neuroblastoma EXT024
Extracutaneous Mastocytoma EXT007
Extragonadal Germ Cell Cancer EXT025
Extragonadal Nonseminomatous Germ Cell Tumor EXT053
Extragonadal Seminoma EXT001
Extrahepatic Bile Duct Adenocarcinoma EXT027
Extrahepatic Cholestasis EXT006
Extramedullary Plasmacytoma EXT010
Extraosseous Chondrosarcoma EXT030
Extraosseous Ewing's Sarcoma EXT031
Extraosseous Osteosarcoma EXT032
Extrapulmonary Tuberculosis EXT033
Extraskeletal Chondroma EXT012
Extraskeletal Ewing Sarcoma EXT052
Extraskeletal Mesenchymal Chondrosarcoma EXT003
Extratemporal Epilepsy EXT009
Extraventricular Neurocytoma EXT044
Extrinsic Allergic Alveolitis EXT034
Extrinsic Cardiomyopathy EXT035
Exudative Glomerulonephritis EXD002
Exudative Vitreoretinopathy EXD001
Exudative Vitreoretinopathy 1 EXD008
Exudative Vitreoretinopathy 2, X-Linked EXD009
Exudative Vitreoretinopathy 3 EXD007
Exudative Vitreoretinopathy 4 EXD004
Exudative Vitreoretinopathy 5 EXD006
Exudative Vitreoretinopathy 6 EXD010
Exudative Vitreoretinopathy 7 EXD012
Eye Accommodation Disease EYC003
Eye Degenerative Disease EYD001
Eye Lymphoma EYL003
Eyelid Disease EYL005
Eyelid Neoplasm EYL001
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