Disease Name Symbol Acronym
Eaf EF001 EAF
Eales Disease ELS001
Ear Malformation ERM002
Early Congenital Syphilis ERL002
Early Infantile Epileptic Encephalopathy ERL057 EIEE
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 Generalized Limb-Onset Dystonia ERL030 EOTD
Early-Onset Glaucoma ERL012
Early-Onset Lamellar Cataract ERL037
Early-Onset Nuclear Cataract ERL043
Early-Onset Parkinson's Disease ERL056
Early-Onset Posterior Subcapsular Cataract ERL036
Early-Onset Schizophrenia ERL020
Early-Onset Sutural Cataract ERL040
Early-Onset, Autosomal Dominant Alzheimer Disease ERL029 FAD
Eastern Equine Encephalitis EST003 EEE
Eating Disorder ETN001
Ebola Hemorrhagic Fever EBL001 EHF
Ebstein Anomaly EBS001
Eccrine Acrospiroma ECC002
Eccrine Adenocarcinoma ECC005
Eccrine Mixed Tumor of Skin ECC006
Eccrine Papillary Adenocarcinoma ECC001
Eccrine Papillary Adenoma ECC003
Eccrine Porocarcinoma ECC004
Eccrine Sweat Gland Cancer ECC007
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 XHED
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant ECT061 ECTD10A
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ECT062 ECTD10B
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant ECT072 ECTD11A
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ECT058 ECTD11B
Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type ECT094 ECTD12
Ectodermal Dysplasia 13, Hair/tooth Type ECT095 ECTD13
Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis ECT110 ECTD14
Ectodermal Dysplasia 15, Hypohidrotic/hair Type ECT111 ECTD15
Ectodermal Dysplasia 4, Hair/nail Type ECT067 ECTD4
Ectodermal Dysplasia 5, Hair/nail Type ECT064 ECTD5
Ectodermal Dysplasia 6, Hair/nail Type ECT068 ECTD6
Ectodermal Dysplasia 7, Hair/nail Type ECT065 ECTD7
Ectodermal Dysplasia 8, Hair/tooth/nail Type ECT069 ECTD8
Ectodermal Dysplasia 9, Hair/nail Type ECT066 ECTD9
Ectodermal Dysplasia and Immunodeficiency 1 ECT108 EDAID1
Ectodermal Dysplasia and Immunodeficiency 2 ECT109 EDAID2
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema ECT103 OLEDAID
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome ECT102 EEMS
Ectodermal Dysplasia/short Stature Syndrome ECT073 ECTDS
Ectodermal Dysplasia/skin Fragility Syndrome ECT007 EDSFS
Ectodermal Dysplasia-Syndactyly Syndrome 1 ECT045 EDSS1
Ectodermal Dysplasia-Syndactyly Syndrome 2 ECT041 EDSS2
Ectomesenchymoma ECT002
Ectopia Lentis 1, Isolated, Autosomal Dominant ECT098 ECTOL1
Ectopia Lentis 2, Isolated, Autosomal Recessive ECT101 ECTOL2
Ectopia Lentis Et Pupillae ECT033 ECTOLP
Ectopic Cushing Syndrome ECT093
Ectopic Pregnancy ECT026
Ectopic Thymus ECT003
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 ECT100 EEC1
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 ECT042 EEC3
Ectropion ECT005
Eculizumab, Poor Response to ECL002
Eczema Herpeticum ECZ002
Edict Syndrome EDC001 EDICT
Eed-Related Overgrowth EDR001
Efavirenz, Poor Metabolism of EFV001
Efemp2-Related Cutis Laxa EFM001
Egasyn EGS001 ES22
Egg Allergy EGG001
Ehlers-Danlos Syndrome EHL001 EDS
Ehlers-Danlos Syndrome Progeroid Type EHL015
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 EHL075 EDSARTH1
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 EHL087 EDSARTH2
Ehlers-Danlos Syndrome, Cardiac Valvular Type EHL061 EDSCV
Ehlers-Danlos Syndrome, Classic Type, 1 EHL073 EDSCL1
Ehlers-Danlos Syndrome, Classic Type, 2 EHL074 EDSCL2
Ehlers-Danlos Syndrome, Classic-Like EHL081 EDSCLL
Ehlers-Danlos Syndrome, Classic-Like, 2 EHL089 EDSCLL2
Ehlers-Danlos Syndrome, Dermatosparaxis Type EHL079 EDSDERMS
Ehlers-Danlos Syndrome, Hypermobility Type EHL034 EDSHMB
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 EHL078 EDSKSCL1
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 EHL084 EDSKSCL2
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 EHL080 EDSMC1
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 EHL086 EDSMC2
Ehlers-Danlos Syndrome, Periodontal Type, 1 EHL071 EDSPD1
Ehlers-Danlos Syndrome, Periodontal Type, 2 EHL072 EDSPD2
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 EHL076 EDSSPD1
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 EHL085 EDSSPD2
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 EHL083 EDSSPD3
Ehlers-Danlos Syndrome, Vascular Type EHL052 EDSVASC
Ehlers-Danlos/osteogenesis Imperfecta Syndrome EHL036
Ehrlich Tumor Carcinoma EHR001
Ehrlichiosis EHR002 HE
Eiken Syndrome EKN001 EISD
Eisenmenger Syndrome ESN011
Elane-Related Neutropenia ELN001
Elastoma ELS005
Elastosis Perforans Serpiginosa ELS002 EPS
Electroclinical Syndrome ELC007
Elephantiasis ELP001
Elliptocytosis 1 ELL010 EL1
Elliptocytosis 2 ELL005 EL2
Elliptocytosis 3 ELL006 EL3
Ellis-Van Creveld Syndrome ELL001 EVC
Elsahy-Waters Syndrome ELS006 ESWS
Emanuel Syndrome EMN001
Embryoma EMB002
Embryonal Carcinoma EMB004
Embryonal Rhabdomyosarcoma EMB005 ERMS
Embryonal Sarcoma EMB007
Embryonal Testis Carcinoma EMB006
Embryonal Tumor with Multilayered Rosettes EMB015 ETMR
Emerinopathy EMR002
Emery-Dreifuss Muscular Dystrophy EMR001 EDMD
Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMR017 EDMD1
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant EMR018 EDMD2
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive EMR020 EDMD3
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant EMR014 EDMD4
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant EMR015 EDMD5
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant EMR019 EDMD7
Emery-Dreifuss Muscular Dystrophy, X-Linked EMR004 EDMD1
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
Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization ENC065 MMERV
Encephalitozoonosis ENC003
Encephalocele ENC008
Encephalocraniocutaneous Lipomatosis ENC010 ECCL
Encephalomalacia ENC005
Encephalopathy ENC018
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 ENC057 EMPF1
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 ENC049 EMPF2
Encephalopathy, Acute, Infection-Induced 1 ENC060 IIAE1
Encephalopathy, Acute, Infection-Induced 2 ENC061 IIAE2
Encephalopathy, Acute, Infection-Induced 5 ENC062 IIAE5
Encephalopathy, Acute, Infection-Induced 6 ENC037 IIAE6
Encephalopathy, Acute, Infection-Induced 7 ENC063 IIAE7
Encephalopathy, Acute, Infection-Induced 8 ENC064 IIAE8
Encephalopathy, Acute, Infection-Induced 4 ENC056 IIAE4
Encephalopathy, Acute, Infection-Induced 9 ENC070 IIAE9
Encephalopathy, Ethylmalonic ENC055 EE
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies ENC039 FENIB
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations ENC054 ENS-MECP2
Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities ENC050 NELABA
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity ENC059 PEBAS
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum ENC047 PEBAT
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 ENC069 PEBEL1
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 ENC066 PEBEL2
Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis ENC067 PEERB
Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy ENC048 PEAMO
Encephalopathy, Progressive, with or Without Lipodystrophy ENC038 PELD
Enchondroma ENC014
Enchondromatosis, Multiple, Ollier Type ENC044 ENCHOM
End Stage Renal Failure END030
Endemic Goiter END028
Endemic Typhus END014
Endobronchial Lipoma END006
Endocardial Fibroelastosis END020 EFE
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 ECO
Endodermal Sinus Tumor END039
Endogenous Depression END040
Endolymphatic Sac Tumor END051 ELST
Endometrial Adenocarcinoma END041
Endometrial Adenosquamous Carcinoma END015
Endometrial Cancer END057 ENDMC
Endometrial Clear Cell Adenocarcinoma END032
Endometrial Disease END080
Endometrial Hyperplasia END062
Endometrial Mucinous Adenocarcinoma END001
Endometrial Small Cell Carcinoma END013
Endometrial Squamous Cell Carcinoma END025
Endometrial Stromal Nodule END003
Endometrial Stromal Sarcoma END031 ESS
Endometrial Stromal Tumor END043
Endometrial Transitional Cell Carcinoma END024
Endometrioid Ovary Carcinoma END002
Endometriosis END044
Endometriosis 1 END071 ENDO1
Endometriosis of Ovary END011
Endometritis END046
Endometrium Carcinoma in Situ END018
Endomyocardial Fibrosis END021 EMF
Endophthalmitis END047
Endosalpingiosis END007
Endosteal Hyperostosis, Autosomal Dominant END081 WENHY
Endotheliitis END072
Engraftment Syndrome ENG004
Enhanced S-Cone Syndrome ENH001 ESCS
Enophthalmos ENP001
Enterobiasis ENT003
Enterocele ENT001
Enterocolitis ENT011
Enterokinase Deficiency ENT006 ENTKD
Enteropathica ENT007
Enteropathy-Associated T-Cell Lymphoma ENT008 EATL
Enthesopathy ENT004
Entropion ENT005
Eosinophil Peroxidase Deficiency ESN009 EPXD
Eosinophilia, Familial ESN023 EOS
Eosinophilia-Myalgia Syndrome ESN002 EMS
Eosinophilic Colitis ESN022
Eosinophilic Cystitis ESN013
Eosinophilic Fasciitis ESN015 EF
Eosinophilic Gastritis ESN004
Eosinophilic Gastroenteritis ESN005 EGE
Eosinophilic Granuloma ESN017
Eosinophilic Granulomatosis with Polyangiitis ESN020 CSS
Eosinophilic Meningitis ESN006
Eosinophilic Pneumonia ESN008
Eosinophilic Pustular Folliculitis ESN016 EPF
Eosinophilic Variant of Chromophobe Renal Cell Carcinoma ESN003
Epb42-Related Hereditary Spherocytosis EPB003
Ependymoblastoma EPN001
Ependymoma EPN002
Epicanthus EPC005
Epicardium Cancer EPC001
Epicondylitis EPC002
Epidemic Pleurodynia EPD011
Epidemic Typhus EPD015
Epidermal Appendage Tumor EPD010
Epidermodysplasia Verruciformis 1 EPD083 EV1
Epidermodysplasia Verruciformis 2 EPD084 EV2
Epidermodysplasia Verruciformis 3 EPD085 EV3
Epidermodysplasia Verruciformis 4 EPD086 EV4
Epidermodysplasia Verruciformis 5 EPD087 EV5
Epidermoid Cysts EPD070
Epidermolysa Bullosa Simplex with Muscular Dystrophy EPD027 MDEBS
Epidermolysis Bullosa EPD016 EB
Epidermolysis Bullosa Acquisita EPD006 EBA
Epidermolysis Bullosa Dystrophica EPD009 DEB
Epidermolysis Bullosa Dystrophica, Autosomal Dominant EPD071 DDEB
Epidermolysis Bullosa Dystrophica, Autosomal Recessive EPD076 RDEB
Epidermolysis Bullosa Dystrophica, Pretibial EPD072 PR-DEB
Epidermolysis Bullosa Junctionalis with Pyloric Atresia EPD077 EB-PA
Epidermolysis Bullosa Pruriginosa EPD022 EBP
Epidermolysis Bullosa Simplex EPD003 EBS
Epidermolysis Bullosa Simplex Superficialis EPD052 EBSS
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema EPD035 EBSMCE
Epidermolysis Bullosa Simplex with Mottled Pigmentation EPD023 EBSMP
Epidermolysis Bullosa Simplex with Muscular Dystrophy EPD050 EBSMD
Epidermolysis Bullosa Simplex with Nail Dystrophy EPD064 EBSND
Epidermolysis Bullosa Simplex with Pyloric Atresia EPD040 EBSPA
Epidermolysis Bullosa Simplex, Autosomal Recessive 1 EPD080 EBSB1
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 EPD068 EBSB2
Epidermolysis Bullosa Simplex, Dowling-Meara Type EPD028 EBSDM
Epidermolysis Bullosa Simplex, Generalized EPD029 K-EBS
Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss EPD067 EBSSH
Epidermolysis Bullosa Simplex, Localized EPD030 WC-EBS
Epidermolysis Bullosa Simplex, Ogna Type EPD031 EBSOG
Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails EPD074 B-DEB
Epidermolysis Bullosa with Pyloric Atresia EPD025 EB-PA
Epidermolysis Bullosa, Junctional, Herlitz Type EPD061 H-JEB
Epidermolysis Bullosa, Junctional, Non-Herlitz Type EPD062 GABEB
Epidermolysis Bullosa, Lethal Acantholytic EPD033 EBLA
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive EPD055 EBNS
Epidermolytic Acanthoma EPD004
Epidermolytic Hyperkeratosis EPD002 EHK
Epidermolytic Nevus EPD082
Epididymis Adenocarcinoma EPD014
Epididymis Cancer EPD017
Epididymis Disease EPD088
Epididymo-Orchitis EPD018
Epidural Abscess EPD005
Epidural Neoplasm EPD019
Epiglottis Cancer EPG002
Epiglottis Neoplasm EPG001
Epiglottitis EPG003
Epignathus EPG004
Epilepsy EPL164
Epilepsy Progressive Myoclonic Type 3 EPL009 EPM 3
Epilepsy with Generalized Tonic-Clonic Seizures EPL001
Epilepsy with Myoclonic-Atonic Seizures EPL230
Epilepsy, Childhood Absence 1 EPL200 ECA1
Epilepsy, Childhood Absence 5 EPL136 ECA5
Epilepsy, Childhood Absence 6 EPL137 ECA6
Epilepsy, Early-Onset, Vitamin B6-Dependent EPL166 EPVB6D
Epilepsy, Familial Adult Myoclonic, 1 EPL201 FAME1
Epilepsy, Familial Adult Myoclonic, 2 EPL203 FAME2
Epilepsy, Familial Adult Myoclonic, 3 EPL053 FAME3
Epilepsy, Familial Adult Myoclonic, 4 EPL107 FAME4
Epilepsy, Familial Adult Myoclonic, 5 EPL103 FAME5
Epilepsy, Familial Adult Myoclonic, 6 EPL227 FAME6
Epilepsy, Familial Adult Myoclonic, 7 EPL228 FAME7
Epilepsy, Familial Focal, with Variable Foci 1 EPL196 FFEVF1
Epilepsy, Familial Focal, with Variable Foci 2 EPL187 FFEVF2
Epilepsy, Familial Focal, with Variable Foci 3 EPL192 FFEVF3
Epilepsy, Familial Focal, with Variable Foci 4 EPL220 FFEVF4
Epilepsy, Familial Temporal Lobe, 1 EPL114 ETL1
Epilepsy, Familial Temporal Lobe, 2 EPL115 ETL2
Epilepsy, Familial Temporal Lobe, 3 EPL128 ETL3
Epilepsy, Familial Temporal Lobe, 4 EPL113 ETL4
Epilepsy, Familial Temporal Lobe, 5 EPL081 ETL5
Epilepsy, Familial Temporal Lobe, 6 EPL124 ETL6
Epilepsy, Familial Temporal Lobe, 7 EPL150 ETL7
Epilepsy, Familial Temporal Lobe, 8 EPL152 ETL8
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation EPL118 FESD
Epilepsy, Hearing Loss, and Mental Retardation Syndrome EPL149 EHLMRS
Epilepsy, Hot Water, 1 EPL074 HWE1
Epilepsy, Hot Water, 2 EPL075 HWE2
Epilepsy, Idiopathic Generalized EPL140 EIG
Epilepsy, Idiopathic Generalized 10 EPL209 EIG10
Epilepsy, Idiopathic Generalized 11 EPL084 EIG11
Epilepsy, Idiopathic Generalized 12 EPL098 EIG12
Epilepsy, Idiopathic Generalized 13 EPL205 EIG13
Epilepsy, Idiopathic Generalized 14 EPL165 EIG14
Epilepsy, Idiopathic Generalized 15 EPL236 EIG15
Epilepsy, Idiopathic Generalized 2 EPL092 EIG2
Epilepsy, Idiopathic Generalized 3 EPL091 EIG3
Epilepsy, Idiopathic Generalized 4 EPL089 EIG4
Epilepsy, Idiopathic Generalized 5 EPL090 EIG5
Epilepsy, Idiopathic Generalized 7 EPL093 EIG7
Epilepsy, Idiopathic Generalized 8 EPL208 EIG8
Epilepsy, Idiopathic Generalized 9 EPL086 EIG9
Epilepsy, Juvenile Absence 1 EPL133 EJA1
Epilepsy, Juvenile Myoclonic 10 EPL217 EJM10
Epilepsy, Juvenile Myoclonic 9 EPL186 EJM9
Epilepsy, Myoclonic Juvenile EPL198 EJM
Epilepsy, Nocturnal Frontal Lobe, 1 EPL073 ENFL1
Epilepsy, Nocturnal Frontal Lobe, 2 EPL202 ENFL2
Epilepsy, Nocturnal Frontal Lobe, 3 EPL072 ENFL3
Epilepsy, Nocturnal Frontal Lobe, 4 EPL204 ENFL4
Epilepsy, Nocturnal Frontal Lobe, 5 EPL096 ENFL5
Epilepsy, Partial, with Pericentral Spikes EPL050 PEPS
Epilepsy, Progressive Myoclonic 7 EPL134 EPM7
Epilepsy, Progressive Myoclonic, 10 EPL188 EPM10
Epilepsy, Progressive Myoclonic, 1b EPL207 EPM1B
Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions EPL206 EPM3
Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure EPL199 EPM4
Epilepsy, Progressive Myoclonic, 6 EPL210 EPM6
Epilepsy, Progressive Myoclonic, 8 EPL155 EPM8
Epilepsy, Progressive Myoclonic, 9 EPL154 EPM9
Epilepsy, Pyridoxine-Dependent EPL131 EPD
Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp EPL138 EPRPDC
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders EPL021 XELBD
Epilepsy-Aphasia Spectrum EPL170 FESD
Epileptic Encephalopathy, Childhood-Onset EPL116 EEOC
Epileptic Encephalopathy, Early Infantile, 1 EPL037 EIEE1
Epileptic Encephalopathy, Early Infantile, 11 EPL023 EIEE11
Epileptic Encephalopathy, Early Infantile, 12 EPL024 EIEE12
Epileptic Encephalopathy, Early Infantile, 13 EPL082 EIEE13
Epileptic Encephalopathy, Early Infantile, 14 EPL097 EIEE14
Epileptic Encephalopathy, Early Infantile, 15 EPL099 EIEE15
Epileptic Encephalopathy, Early Infantile, 16 EPL117 EIEE16
Epileptic Encephalopathy, Early Infantile, 17 EPL119 EIEE17
Epileptic Encephalopathy, Early Infantile, 18 EPL102 EIEE18
Epileptic Encephalopathy, Early Infantile, 19 EPL126 EIEE19
Epileptic Encephalopathy, Early Infantile, 2 EPL025 EIEE2
Epileptic Encephalopathy, Early Infantile, 21 EPL127 EIEE21
Epileptic Encephalopathy, Early Infantile, 23 EPL123 EIEE23
Epileptic Encephalopathy, Early Infantile, 24 EPL125 EIEE24
Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta EPL231 EIEE25
Epileptic Encephalopathy, Early Infantile, 26 EPL130 EIEE26
Epileptic Encephalopathy, Early Infantile, 27 EPL135 EIEE27
Epileptic Encephalopathy, Early Infantile, 28 EPL139 EIEE28
Epileptic Encephalopathy, Early Infantile, 29 EPL153 EIEE29
Epileptic Encephalopathy, Early Infantile, 3 EPL026 EIEE3
Epileptic Encephalopathy, Early Infantile, 30 EPL157 EIEE30
Epileptic Encephalopathy, Early Infantile, 31 EPL151 EIEE31
Epileptic Encephalopathy, Early Infantile, 32 EPL146 EIEE32
Epileptic Encephalopathy, Early Infantile, 33 EPL156 EIEE33
Epileptic Encephalopathy, Early Infantile, 34 EPL159 EIEE34
Epileptic Encephalopathy, Early Infantile, 35 EPL193 EIEE35
Epileptic Encephalopathy, Early Infantile, 36 EPL169 EIEE36
Epileptic Encephalopathy, Early Infantile, 37 EPL189 EIEE37
Epileptic Encephalopathy, Early Infantile, 38 EPL171 EIEE38
Epileptic Encephalopathy, Early Infantile, 39 EPL185 EIEE39
Epileptic Encephalopathy, Early Infantile, 4 EPL027 EIEE4
Epileptic Encephalopathy, Early Infantile, 40 EPL177 EIEE40
Epileptic Encephalopathy, Early Infantile, 41 EPL180 EIEE41
Epileptic Encephalopathy, Early Infantile, 42 EPL172 EIEE42
Epileptic Encephalopathy, Early Infantile, 43 EPL175 EIEE43
Epileptic Encephalopathy, Early Infantile, 44 EPL181 EIEE44
Epileptic Encephalopathy, Early Infantile, 45 EPL174 EIEE45
Epileptic Encephalopathy, Early Infantile, 46 EPL176 EIEE46
Epileptic Encephalopathy, Early Infantile, 47 EPL173 EIEE47
Epileptic Encephalopathy, Early Infantile, 48 EPL191 EIEE48
Epileptic Encephalopathy, Early Infantile, 49 EPL190 EIEE49
Epileptic Encephalopathy, Early Infantile, 5 EPL028 EIEE5
Epileptic Encephalopathy, Early Infantile, 50 EPL183 EIEE50
Epileptic Encephalopathy, Early Infantile, 51 EPL178 EIEE51
Epileptic Encephalopathy, Early Infantile, 52 EPL179 EIEE52
Epileptic Encephalopathy, Early Infantile, 53 EPL195 EIEE53
Epileptic Encephalopathy, Early Infantile, 54 EPL182 EIEE54
Epileptic Encephalopathy, Early Infantile, 55 EPL194 EIEE55
Epileptic Encephalopathy, Early Infantile, 56 EPL211 EIEE56
Epileptic Encephalopathy, Early Infantile, 57 EPL213 EIEE57
Epileptic Encephalopathy, Early Infantile, 58 EPL215 EIEE58
Epileptic Encephalopathy, Early Infantile, 59 EPL216 EIEE59
Epileptic Encephalopathy, Early Infantile, 6 EPL184 EIEE6
Epileptic Encephalopathy, Early Infantile, 60 EPL218 EIEE60
Epileptic Encephalopathy, Early Infantile, 61 EPL219 EIEE61
Epileptic Encephalopathy, Early Infantile, 62 EPL221 EIEE62
Epileptic Encephalopathy, Early Infantile, 63 EPL222 EIEE63
Epileptic Encephalopathy, Early Infantile, 64 EPL223 EIEE64
Epileptic Encephalopathy, Early Infantile, 65 EPL224 EIEE65
Epileptic Encephalopathy, Early Infantile, 66 EPL226 EIEE66
Epileptic Encephalopathy, Early Infantile, 67 EPL229 EIEE67
Epileptic Encephalopathy, Early Infantile, 68 EPL232 EIEE68
Epileptic Encephalopathy, Early Infantile, 69 EPL233 EIEE69
Epileptic Encephalopathy, Early Infantile, 7 EPL068 EIEE7
Epileptic Encephalopathy, Early Infantile, 70 EPL234 EIEE70
Epileptic Encephalopathy, Early Infantile, 71 EPL235 EIEE71
Epileptic Encephalopathy, Early Infantile, 72 EPL237 EIEE72
Epileptic Encephalopathy, Early Infantile, 73 EPL238 EIEE73
Epileptic Encephalopathy, Early Infantile, 74 EPL239 EIEE74
Epileptic Encephalopathy, Early Infantile, 75 EPL240 EIEE75
Epileptic Encephalopathy, Early Infantile, 76 EPL241 EIEE76
Epileptic Encephalopathy, Early Infantile, 8 EPL038 EIEE8
Epileptic Encephalopathy, Early Infantile, 9 EPL029 EIEE9
Epileptic Encephalopathy, Infantile or Early Childhood, 1 EPL212 IECEE1
Epileptic Encephalopathy, Infantile or Early Childhood, 2 EPL214 IECEE2
Epileptic Encephalopathy, Infantile or Early Childhood, 3 EPL225 IECEE3
Epimerase Deficiency Galactosemia EPM005
Epiphyseal Chondrodysplasia, Miura Type EPP011 ECDM
Epiphyseal Dysplasia, Microcephaly, and Nystagmus EPP020 LWS
Epiphyseal Dysplasia, Multiple, 1 EPP017 EDM1
Epiphyseal Dysplasia, Multiple, 2 EPP012 EDM2
Epiphyseal Dysplasia, Multiple, 3 EPP015 EDM3
Epiphyseal Dysplasia, Multiple, 4 EPP014 EDM4
Epiphyseal Dysplasia, Multiple, 5 EPP013 EDM5
Epiphyseal Dysplasia, Multiple, 6 EPP009 EDM6
Epiphyseal Dysplasia, Multiple, 7 EPP026 EDM7
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus EPP024 WRS
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness EPP022 EDMMD
Episodic Angioedema with Eosinophilia EPS038
Episodic Ataxia EPS003 EA
Episodic Ataxia, Type 1 EPS042 EA1
Episodic Ataxia, Type 2 EPS035 EA2
Episodic Ataxia, Type 3 EPS014 EA3
Episodic Ataxia, Type 5 EPS034 EA5
Episodic Ataxia, Type 6 EPS017 EA6
Episodic Ataxia, Type 7 EPS015 EA7
Episodic Ataxia, Type 8 EPS033 EA8
Episodic Kinesigenic Dyskinesia 1 EPS030 EKD1
Episodic Kinesigenic Dyskinesia 2 EPS013 EKD2
Episodic Muscle Weakness, X-Linked EPS012 EMWX
Episodic Pain Syndrome, Familial, 1 EPS039 FEPS1
Episodic Pain Syndrome, Familial, 2 EPS027 FEPS2
Episodic Pain Syndrome, Familial, 3 EPS028 FEPS3
Epithelial and Subepithelial Dystrophy EPT023
Epithelial Basement Membrane Dystrophy EPT025 EBMD
Epithelial Malignant Thymoma EPT007
Epithelial Predominant Wilms' Tumor EPT005
Epithelial Recurrent Erosion Dystrophy EPT021 ERED
Epithelial-Myoepithelial Carcinoma EPT010 EMC
Epithelial-Stromal Tgfbi Dystrophy EPT024
Epithelioid Cell Melanoma EPT001
Epithelioid Cell Synovial Sarcoma EPT009
Epithelioid Hemangioendothelioma EPT020
Epithelioid Inflammatory Myofibroblastic Sarcoma EPT029
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 ECD
Erysipelas ERY004
Erysipeloid ERY001
Erythema Elevatum Diutinum ERY017
Erythema Infectiosum ERY002
Erythema Multiforme ERY003 EM
Erythematosquamous Dermatosis ERY005
Erythermalgia, Primary ERY029 PERYTHM
Erythrasma ERY010
Erythrocyte Amp Deaminase Deficiency ERY039 AMPDDE
Erythrocyte Galactose Epimerase Deficiency ERY041
Erythrocyte Lactate Transporter Defect ERY030 SDLT
Erythrocytosis, Familial, 1 ERY058 ECYT1
Erythrocytosis, Familial, 2 ERY048 ECYT2
Erythrocytosis, Familial, 3 ERY031 ECYT3
Erythrocytosis, Familial, 4 ERY032 ECYT4
Erythrocytosis, Familial, 5 ERY063 ECYT5
Erythrocytosis, Familial, 6 ERY064 ECYT6
Erythrocytosis, Familial, 7 ERY065 ECYT7
Erythrocytosis, Familial, 8 ERY067 ECYT8
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige ERY061 EPKHE
Erythroderma, Ichthyosiform, Congenital Reticular ERY060 CRIE
Erythrokeratoderma ERY014
Erythrokeratodermia Variabilis Et Progressiva 1 ERY053 EKVP1
Erythrokeratodermia Variabilis Et Progressiva 2 ERY054 EKVP2
Erythrokeratodermia Variabilis Et Progressiva 3 ERY055 EKVP3
Erythrokeratodermia Variabilis Et Progressiva 4 ERY056 EKVP4
Erythrokeratodermia Variabilis Et Progressiva 5 ERY062 EKVP5
Erythrokeratodermia Variabilis Et Progressiva 6 ERY068 EKVP6
Erythrokeratodermia-Cardiomyopathy Syndrome ERY052
Erythroleukemia, Familial ERY051 FERLK
Erythromelalgia ERY008
Erythroplakia ERY023
Erythropoietic Protoporphyria, Autosomal Recessive ERY016
Esophageal Adenosquamous Carcinoma ESP006
Esophageal Atresia ESP020
Esophageal Atresia/tracheoesophageal Fistula ESP029
Esophageal Basaloid Squamous Cell Carcinoma ESP010
Esophageal Cancer ESP021 ESCR
Esophageal Candidiasis ESP018
Esophageal Disease ESP023
Esophageal Neuroendocrine Tumor ESP009
Esophageal Tuberculosis ESP001
Esophageal Varix ESP002
Esophagitis ESP024
Esophagitis, Eosinophilic, 1 ESP035 EOE1
Esophagitis, Eosinophilic, 2 ESP034 EOE2
Esophagus Adenocarcinoma ESP025
Esophagus Carcinoma in Situ ESP005
Esophagus Sarcoma ESP026
Esophagus Small Cell Carcinoma ESP004
Esophagus Squamous Cell Carcinoma ESP027
Esophagus Verrucous Carcinoma ESP011
Esotropia EST005
Essential Thrombocythemia ESS003 ET
Essential Tremor ESS001
Estrogen Excess EST004
Estrogen Resistance EST007 ESTRR
Estrogen-Receptor Negative Breast Cancer EST002
Estrogen-Receptor Positive Breast Cancer EST001
Ethmoid Sinus Adenocarcinoma ETH001
Ethmoid Sinus Adenoid Cystic Carcinoma ETH002
Ethmoid Sinus Cancer ETH008
Ethmoid Sinusitis ETH009
Ethylene Glycol Poisoning ETH012
Eukaryotic Translation Elongation Factor 1 Alpha-1-Like 14 EKR001 EEF1A1L14
Eumycotic Mycetoma EMY001
Euryblepharon ERY043
Eustachian Tube Disease EST006
Euthyroid Sick Syndrome ETH004
Evans' Syndrome EVN001
Even-Plus Syndrome EVN003 EVPLS
Ewing Sarcoma EWN003 ES
Ewing Sarcoma of Bone EWN004
Ewing's Family of Tumors EWN002
Exanthem EXN002 RASH
Exanthema Subitum EXN001
Excessive Tearing EXC003
Exencephaly EXN003
Exercise Intolerance, Riboflavin-Responsive EXR006 RREI
Exercise-Induced Anaphylaxis EXR007
Exercise-Induced Malignant Hyperthermia EXR008
Exfoliation Syndrome EXF001 XFS
Exfoliative Ichthyosis EXF002
Exhibitionism EXH001
Exocervical Carcinoma EXC001
Exocrine Pancreatic Insufficiency EXC002
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis EXC004 EPIDACH
Exophthalmic Ophthalmoplegia EXP003
Exophthalmos EXP004
Exosc3-Related Pontocerebellar Hypoplasia EXS014
Exostoses, Multiple, Type I EXS019 EXT1
Exostoses, Multiple, Type Ii EXS020 EXT2
Exostoses, Multiple, Type Iii EXS021 EXT3
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
Extraoral Halitosis Due to Methanethiol Oxidase Deficiency EXT064 EHMTO
Extraosseous Chondrosarcoma EXT030
Extraosseous Ewing Sarcoma EXT065
Extraosseous Osteosarcoma EXT032
Extrapulmonary Tuberculosis EXT033 EPTB
Extraskeletal Chondroma EXT012
Extraskeletal Ewing Sarcoma EXT052 EOE
Extraskeletal Mesenchymal Chondrosarcoma EXT003
Extratemporal Epilepsy EXT009
Extraventricular Neurocytoma EXT044 EVN
Extrinsic Allergic Alveolitis EXT034 HP
Extrinsic Cardiomyopathy EXT035
Exudative Glomerulonephritis EXD002
Exudative Vitreoretinopathy EXD001 FEVR
Exudative Vitreoretinopathy 1 EXD008 EVR1
Exudative Vitreoretinopathy 2, X-Linked EXD009 EVR2
Exudative Vitreoretinopathy 3 EXD007 EVR3
Exudative Vitreoretinopathy 4 EXD004 EVR4
Exudative Vitreoretinopathy 5 EXD006 EVR5
Exudative Vitreoretinopathy 6 EXD010 EVR6
Exudative Vitreoretinopathy 7 EXD012 EVR7
Eye Accommodation Disease EYC003
Eye Degenerative Disease EYD001
Eye Disease EYD002
Eye Lymphoma EYL003
Eyelid Benign Neoplasm EYL006
Eyelid Carcinoma EYL002
Eyelid Disease EYL005
Ezh2-Related Overgrowth EZH001
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