Disease Name Symbol Acronym
Eaf EF001 EAF
Eales Disease ELS001
Early Congenital Syphilis ERL002
Early Invasive Cervical Adenocarcinoma ERL005
Early Myoclonic Encephalopathy ERL001
Early Onset Absence Epilepsy ERL003
Early Yaws ERL004
Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation ERL023
Early-Onset Familial Alzheimer Disease ERL006 EOFAD
Early-Onset Generalized Dystonia ERL046 DYT1
Early-Onset Generalized Limb-Onset Dystonia ERL030 DYT1
Early-Onset Glaucoma ERL012
Early-Onset Lafora Body Disease ERL016
Early-Onset Nuclear Cataract ERL043
Early-Onset Parkinson Disease ERL047
Early-Onset Posterior Subcapsular Cataract ERL036
Early-Onset Schizophrenia ERL020
Early-Onset Severe Reducing Body Myopathy, X-Linked ERL010
Early-Onset, Autosomal Dominant Alzheimer Disease ERL029 FAD
Eastern Equine Encephalitis EST003 EEE
Eating Disorder ETN001
Ebd, Bart Type EBD002 B-DEB
Ebola Hemorrhagic Fever EBL001 EHF
Ebstein Anomaly EBS001
Eccrine Acrospiroma ECC002
Eccrine Adenocarcinoma ECC005
Eccrine Papillary Adenocarcinoma ECC001
Eccrine Porocarcinoma ECC004
Eccrine Sweat Gland Neoplasm ECC008
Ece1-Related Hirschsprung Disease EC1001
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 2, Clouston Type ECT078 ECTD2
Ectodermal Dysplasia 3, Witkop Type ECT063 ECTD3
Ectodermal Dysplasia 4, Hair/nail Type ECT067 ECTD4
Ectodermal Dysplasia 5, Hair/nail Type ECT064
Ectodermal Dysplasia 6, Hair/nail Type ECT068
Ectodermal Dysplasia 7, Hair/nail Type ECT065 ECTD7
Ectodermal Dysplasia 8, Hair/tooth/nail Type ECT069
Ectodermal Dysplasia 9, Hair/nail Type ECT066 ECTD9
Ectodermal Dysplasia-Syndactyly Syndrome 1 ECT045 EDSS1
Ectodermal Dysplasia-Syndactyly Syndrome 2 ECT041 EDCS
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency ECT032 ADEDAID
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy ECT046 EEMS
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency ECT076 EDAID
Ectodermal Dysplasia/short Stature Syndrome ECT073 ECTDS
Ectodermal Dysplasia/skin Fragility Syndrome ECT007 EDSFS
Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency ECT044 OLEDAID
Ectomesenchymoma ECT002
Ectopia Lentis Et Pupillae ECT033 ECTOLP
Ectopia Lentis, Familial ECT038 ECTOL1
Ectopia Lentis, Isolated, Autosomal Recessive ECT077 ECTOL2
Ectopic Cushing Syndrome ECT093
Ectopic Pregnancy ECT026
Ectopic Thymus ECT003
Ectrodactyly with Tibial Hemimelia ECT035
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 1 ECT092 EEC1
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 ECT042 EEC3
Ectropion ECT005
Eczema Herpeticum ECZ002
Edict Syndrome EDC001
Edn3-Related Hirschsprung Disease EDN002
Ednrb-Related Hirschsprung Disease EDN003
Eec Syndrome ECS001
Efavirenz, Poor Metabolism of EFV001
Efemp2-Related Cutis Laxa EFM001
Efhc1-Related Juvenile Myoclonic Epilepsy EFH001
Egg Allergy EGG001
Ehlers-Danlos Syndrome EHL001 EDS
Ehlers-Danlos Syndrome Due to Tenascin X Deficiency EHL060 EDSTNXD
Ehlers-Danlos Syndrome Type Ii EHL018
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss EHL042 EDSKMH
Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency EHL044
Ehlers-Danlos Syndrome, Cardiac Valvular Form EHL029 EDSCV
Ehlers-Danlos Syndrome, Classic Type EHL033 EDS
Ehlers-Danlos Syndrome, Classic Type, Col1a1-Related EHL022
Ehlers-Danlos Syndrome, Classic Type, Col5a1-Related EHL023
Ehlers-Danlos Syndrome, Classic Type, Col5a2-Related EHL024
Ehlers-Danlos Syndrome, Kyphoscoliotic Form EHL035
Ehlers-Danlos Syndrome, Musculocontractural Type 1 EHL047 EDSMC1
Ehlers-Danlos Syndrome, Musculocontractural Type 2 EHL046 EDSMC2
Ehlers-Danlos Syndrome, Periodontal Type 1 EHL068 EDS8
Ehlers-Danlos Syndrome, Periodontal Type 2 EHL069 EDSPD2
Ehlers-Danlos Syndrome, Progeroid Type, 1 EHL043 EDSSLA
Ehlers-Danlos Syndrome, Progeroid Type, 2 EHL053 EDSP2
Ehlers-Danlos Syndrome, Type Iii EHL055 EDS3
Ehlers-Danlos Syndrome, Type Iv EHL057 EDS4
Ehlers-Danlos Syndrome, Type Vi EHL054 EDS6
Ehlers-Danlos Syndrome, Type Vii EHL041
Ehlers-Danlos Syndrome, Type Viib EHL032 EDS7A
Ehlers-Danlos Syndrome, Type Viic EHL027 EDS7C
Ehlers-Danlos Syndrome, Type Viii EHL028 EDSPD1
Ehlers-Danlos Syndrome, Vascular-Like Type EHL037
Ehlers-Danlos/osteogenesis Imperfecta Syndrome EHL036
Ehrlich Tumor Carcinoma EHR001
Ehrlichiosis EHR002 HE
Eif2b1-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter EF2001
Eif2b2-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter EF2002
Eif2b3-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter EF2003
Eif2b4-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter EF2004
Eif2b5-Related Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter EF2005
Eif4g1-Related Parkinson Disease EF4001
Eiken Syndrome EKN001 EISD
Eisenmenger Syndrome ESN011
Elane-Related Neutropenia ELN001
Elastoma ELS005
Elastosis Perforans Serpiginosa ELS002 EPS
Elejalde Disease ELJ001 ELEJAS
Elephantiasis ELP001
Elliptocytosis 3 ELL006 EL3
Elliptocytosis-1 ELL007 EL1
Elliptocytosis-2 ELL008 EL2
Ellis-Van Creveld Syndrome ELL001 EVC
Eln-Related Cutis Laxa ELN002
Emanuel Syndrome EMN001
Emberger Syndrome EMB016 LMPM
Embryoma EMB002
Embryonal Carcinoma EMB004
Embryonal Rhabdomyosarcoma EMB005 ERMS
Embryonal Sarcoma EMB007
Embryonal Testis Carcinoma EMB006
Embryonal Tumor with Multilayered Rosettes EMB015 ETMR
Emd-Related Emery-Dreifuss Muscular Dystrophy, X-Linked EMD001 EDMD1
Emerinopathy EMR002
Emery-Dreifuss Muscular Dystrophy EMR001 EDMD
Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMR017 EDMD1
Emery-Dreifuss Muscular Dystrophy 2, Ad EMR011 EDMD2
Emery-Dreifuss Muscular Dystrophy 3, Ar EMR012 EDMD3
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant EMR014 EDMD4
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant EMR015 EDMD5
Emery-Dreifuss Muscular Dystrophy 7, Ad EMR013 EDMD7
Emery-Dreifuss Muscular Dystrophy, X-Linked EMR004 EDMD1
Emphysema Due to Aat Deficiency EMP007 A1ATD
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 ECCL
Encephalomalacia ENC005
Encephalomyopathy ENC011
Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission ENC023 EMPF1
Encephalopathy ENC018
Encephalopathy Due to Prosaposin Deficiency ENC041 PSAPD
Encephalopathy, Acute, Infection-Induced, 4 ENC036 IIAE4
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies ENC039 FENIB
Encephalopathy, Neonatal Severe ENC021 ENS-MECP2
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum ENC047 PEBAT
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy ENC046 PEBEL
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
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 Mucinous Adenocarcinoma END001
Endometrial Small Cell Carcinoma END013
Endometrial Squamous Cell Carcinoma END025
Endometrial Stromal Nodule END003
Endometrial Stromal Sarcoma END031 ESS
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 EMF
Endophthalmitis END047
Endosalpingiosis END007
Endotheliitis END072
Eng-Related Hereditary Hemorrhagic Telangiectasia ENG003 HHT1
Engraftment Syndrome ENG004
Enhanced S-Cone Syndrome ENH001 ESCS
Enophthalmos ENP001
Enterobiasis ENT003
Enterocele ENT001
Enterokinase Deficiency ENT006 ENTKD
Enteropathica ENT007
Enteropathy-Associated T-Cell Lymphoma ENT008 EATL
Enthesopathy ENT004
Entropion ENT005
Eosinophil Peroxidase Deficiency ESN009 EPXD
Eosinophilia-Myalgia Syndrome ESN002 EMS
Eosinophilia, Familial ESN023
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
Ep300-Related Rubinstein-Taybi Syndrome EP3001
Epb42-Related Hereditary Spherocytosis EPB003
Epb42-Related Spherocytosis EPB004 SPH5
Epcam-Related Lynch Syndrome EPC004
Ependymoblastoma EPN001
Ependymoma EPN002
Ephx1-Related Familial Hypercholanemia EPH002
Epicardium Cancer EPC001
Epicondylitis EPC002
Epidemic Pleurodynia EPD011
Epidemic Typhus EPD015
Epidermal Appendage Tumor EPD010
Epidermal Nevus, Somatic EPD053 KNEN
Epidermodysplasia Verruciformis EPD001 EV
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, Ad EPD043 DDEB
Epidermolysis Bullosa Dystrophica, Ar EPD044 RDEB
Epidermolysis Bullosa Pruriginosa EPD022 EBP
Epidermolysis Bullosa Simplex EPD003 EBS
Epidermolysis Bullosa Simplex Superficialis EPD052 EBSS
Epidermolysis Bullosa Simplex with Muscular Dystrophy EPD050 MD-EBS
Epidermolysis Bullosa Simplex with Nail Dystrophy EPD064 EBSND
Epidermolysis Bullosa Simplex with Pyloric Atresia EPD040 EBS-PA
Epidermolysis Bullosa Simplex-Mp EPD056 MP-EBS
Epidermolysis Bullosa Simplex, Dowling-Meara Type EPD028 DM-EBS
Epidermolysis Bullosa Simplex, Koebner Type EPD047 K-EBS
Epidermolysis Bullosa Simplex, Ogna Type EPD031 O-EBS
Epidermolysis Bullosa Simplex, Other Generalized EPD036 EBS-K
Epidermolysis Bullosa Simplex, Recessive 1 EPD058 EBSB1
Epidermolysis Bullosa Simplex, Sutosomal Recessive 2 EPD054 EBSB2
Epidermolysis Bullosa Simplex, Weber-Cockayne Type EPD041 WC-EBS
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, Junctional, with Pyloric Stenosis EPD045 EB-PA
Epidermolysis Bullosa, Lethal Acantholytic EPD033 EBLA
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive EPD055 EBNS
Epidermolysis Bullosa, Pretibial EPD034 PR-DEB
Epidermolytic Acanthoma EPD004
Epidermolytic Hyperkeratosis EPD002 EHK
Epidermolytic Ichthyosis EPD065 EI
Epidermylysis Bullosa Simplex-Mcr EPD057 EBSMCE
Epididymis Adenocarcinoma EPD014
Epididymis Cancer EPD017
Epididymo-Orchitis EPD018
Epidural Abscess EPD005
Epidural Neoplasm EPD019
Epiglottis Neoplasm EPG001
Epiglottitis EPG003
Epignathus EPG004
Epilepsy EPL164
Epilepsy Idiopathic Generalized 8 EPL142 EIG8
Epilepsy Progressive Myoclonic Type 3 EPL009 EPM 3
Epilepsy with Generalized Tonic-Clonic Seizures EPL001
Epilepsy with Neurodevelopmental Defects EPL080 EPND
Epilepsy-Aphasia Spectrum EPL170 FESD
Epilepsy, Childhood Absence 2 EPL132 ECA2
Epilepsy, Childhood Absence 5 EPL136 ECA5
Epilepsy, Childhood Absence 6 EPL137 ECA6
Epilepsy, Early-Onset, Vitamin B6-Dependent EPL166 EPVB6D
Epilepsy, Familial Focal with Variable Foci 1 EPL167
Epilepsy, Familial Focal with Variable Foci 2 EPL168 FFEVF2
Epilepsy, Familial Focal, with Variable Foci EPL122 FFEVF1
Epilepsy, Familial Temporal Lobe, 1 EPL114 ETL1
Epilepsy, Familial Temporal Lobe, 2 EPL115 ETL2
Epilepsy, Familial Temporal Lobe, 3 EPL128 FMTLE
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, Generalized, with Febrile Seizures Plus, Type 1 EPL120 GEFS+1
Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 EPL067 FEB3A
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 EPL041 FEB8
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 EPL100 EIG10
Epilepsy, Hearing Loss, and Mental Retardation Syndrome EPL149 EHLMRS
Epilepsy, Hot Water, 1 EPL074
Epilepsy, Hot Water, 2 EPL075
Epilepsy, Idiopathic Generalized 11 EPL084 EIG11
Epilepsy, Idiopathic Generalized 14 EPL165 EIG14
Epilepsy, Idiopathic Generalized 2 EPL092
Epilepsy, Idiopathic Generalized 3 EPL091
Epilepsy, Idiopathic Generalized 5 EPL090
Epilepsy, Idiopathic Generalized 7 EPL093
Epilepsy, Idiopathic Generalized 9 EPL086 EIG9
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 EPL101 EIG12
Epilepsy, Juvenile Absence 1 EPL133 JAE1
Epilepsy, Juvenile Myoclonic 5 EPL094 ECA4
Epilepsy, Myoclonic, Familial Adult, 2 EPL148 FAME2
Epilepsy, Myoclonic, Familial Adult, 5 EPL147 FAME5
Epilepsy, Nocturnal Frontal Lobe, 1 EPL073 ENFL1
Epilepsy, Nocturnal Frontal Lobe, 3 EPL072 ENFL3
Epilepsy, Nocturnal Frontal Lobe, 5 EPL096 ENFL5
Epilepsy, Nocturnal Frontal Lobe, Type 4 EPL071 ENFL4
Epilepsy, Partial, with Pericentral Spikes EPL050
Epilepsy, Progressive Myoclonic 10 EPL160 EPM10
Epilepsy, Progressive Myoclonic 1a EPL121 EPM1
Epilepsy, Progressive Myoclonic 1b EPL144 EPM1B
Epilepsy, Progressive Myoclonic 2b EPL070 EPM2
Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions EPL143 EPM3
Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure EPL108 EPM4
Epilepsy, Progressive Myoclonic 5 EPL141 EPM5
Epilepsy, Progressive Myoclonic 6 EPL145 EPM6
Epilepsy, Progressive Myoclonic 7 EPL134 EPM7
Epilepsy, Progressive Myoclonic, 8 EPL155 EPM8
Epilepsy, Progressive Myoclonic, 9 EPL154 EPM9
Epilepsy, Pyridoxine-Dependent EPL131 PDE
Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp EPL138
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders EPL021 XELBD
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 EPL129 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, 36 EPL169
Epileptic Encephalopathy, Early Infantile, 38 EPL171 EIEE38
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, 5 EPL028 EIEE5
Epileptic Encephalopathy, Early Infantile, 51 EPL178 EIEE51
Epileptic Encephalopathy, Early Infantile, 52 EPL179 EIEE52
Epileptic Encephalopathy, Early Infantile, 7 EPL068 EIEE7
Epileptic Encephalopathy, Early Infantile, 8 EPL038 EIEE8
Epileptic Encephalopathy, Early Infantile, 9 EPL029 EIEE9
Epimerase Deficiency Galactosemia EPM005
Epiphyseal Chondrodysplasia, Miura Type EPP011 ECDM
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, with Myopia and Deafness EPP008 EDMMD
Episodic Angioedema with Eosinophilia EPS038
Episodic Ataxia EPS003 EA
Episodic Ataxia, Type 2 EPS035 EA2
Episodic Ataxia, Type 3 EPS014
Episodic Ataxia, Type 5 EPS034 EA5
Episodic Ataxia, Type 6 EPS017 EA6
Episodic Ataxia, Type 7 EPS015
Episodic Ataxia, Type 8 EPS033
Episodic Ataxia/myokymia Syndrome EPS004 EA1
Episodic Kinesigenic Dyskinesia 1 EPS030 EKD1
Episodic Kinesigenic Dyskinesia 2 EPS013
Episodic Muscle Weakness, X-Linked EPS012
Episodic Pain Syndrome, Familial EPS029 FEPS1
Episodic Pain Syndrome, Familial, 2 EPS027 FEPS2
Episodic Pain Syndrome, Familial, 3 EPS028 FEPS3
Epispadias EPS026
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 Leiomyosarcoma EPT011
Epithelioid Malignant Peripheral Nerve Sheath Tumor EPT008
Epithelioid Neurofibroma EPT006
Epithelioid Sarcoma EPT012
Epithelioid Trophoblastic Tumor EPT003
Epm2a-Related Lafora Disease EPM004
Epsilon-Trimethyllysine Hydroxylase Deficiency EPS019 AUTSX6
Epstein Syndrome EPS006 APSM
Epstein-Barr Virus Hepatitis EPS001
Epstein-Barr Virus-Associated Gastric Carcinoma EPS023
Epulis EPL003
Equatorial Staphyloma EQT001
Erbb4-Related Amyotrophic Lateral Sclerosis ERB003
Ercc1-Related Xeroderma Pigmentosum ERC001
Ercc2-Related Xeroderma Pigmentosum ERC002
Ercc3-Related Xeroderma Pigmentosum ERC003
Ercc4-Related Fanconi Anemia ERC009
Ercc4-Related Xeroderma Pigmentosum ERC004
Ercc5-Related Xeroderma Pigmentosum ERC005
Ercc6-Related Cockayne Syndrome ERC006 CSB
Ercc8-Related Cockayne Syndrome ERC007 CSA
Erdheim-Chester Disease ERD001 ECD
Erf-Related Craniosynostosis ERF001
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
Erythrocyte Galactose Epimerase Deficiency ERY041
Erythrocyte Lactate Transporter Defect ERY030 SDLT
Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency ERY044 BPGMD
Erythrocytosis, Familial, 2 ERY048 ECYT2
Erythrocytosis, Familial, 3 ERY031 ECYT3
Erythrocytosis, Familial, 4 ERY032 ECYT4
Erythrocytosis, Somatic ERY045 ECYT1
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige ERY046 EPKHE
Erythrokeratodermia Variabilis Et Progressiva ERY021 EKV
Erythrokeratodermia-Cardiomyopathy Syndrome ERY052
Erythromelalgia ERY008
Erythroplakia ERY023
Escobar Syndrome ESC003 EVMPS
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 ESCR
Esophageal Candidiasis ESP018
Esophageal Disease ESP023
Esophageal Tuberculosis ESP001
Esophageal Varix ESP002
Esophagitis ESP024
Esophagitis, Eosinophilic, 1 ESP035 EOE
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 ET
Essential Tremor ESS001 ETM1
Estrogen Excess EST004
Estrogen Resistance EST007 ESTRR
Estrogen-Receptor Negative Breast Cancer EST002
Estrogen-Receptor Positive Breast Cancer EST001
Ethmoid Sinus Cancer ETH008
Ethmoid Sinusitis ETH009
Ethylene Glycol Poisoning ETH012
Ethylmalonic Encephalopathy ETH011 EE
Eumycotic Mycetoma EMY001
Eustachian Tube Disease EST006
Euthyroid Sick Syndrome ETH004
Evans Syndrome with Immunodeficiency and Premature Immunosenescence EVN002
Evans' Syndrome EVN001
Evc-Related Ellis-Van Creveld Syndrome EVC002
Evc2-Related Ellis-Van Creveld Syndrome EVC001
Even-Plus Syndrome EVN003 EVPLS
Ewing Sarcoma EWN003 ES
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
Exfoliation Syndrome EXF001 XFS
Exfoliative Ichthyosis EXF002
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like EXF006 PSS4
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 1 EXS004 EXT1
Exostoses, Multiple, Type 2 EXS005 EXT2
Exostosis EXS001
Exotropia EXT022
Exposure Keratitis EXP002
Expressive Language Disorder EXP001
Exstrophy of Bladder Bladder Exstrophy and Epispadias Complex, Included EXS016
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 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
Exudative Vitreoretinopathy 4 EXD004 EVR4
Exudative Vitreoretinopathy 5 EXD006 EVR5
Exudative Vitreoretinopathy 6 EXD010 EVR6
Eya1-Related Branchiootorenal Spectrum Disorders EY1001
Eya4-Related Dilated Cardiomyopathy EY4001
Eye Accommodation Disease EYC003
Eye Degenerative Disease EYD001
Eye Disease EYD002
Eye Lymphoma EYL003
Eyelid Disease EYL005
Eyelid Neoplasm EYL001
Eys-Related Retinitis Pigmentosa EYS001 RP25
Ezh2-Related Overgrowth EZH001
Ezh2-Related Weaver Syndrome EZH002
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