Disease Name Symbol Acronym
Eaf EF001 EAF
Eales Disease ELS001
Early Myoclonic Encephalopathy ERL001
Early Onset Absence Epilepsy ERL003
Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia ERL008 AOA
Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation ERL023
Early-Onset Glaucoma ERL012
Early-Onset Lafora Body Disease ERL016
Early-Onset Schizophrenia ERL020
Early-Onset Severe Reducing Body Myopathy, X-Linked ERL010
Early-Onset X-Linked Optic Atrophy ERL021 OPA2
Eastern Equine Encephalitis EST003 EEE
Eating Disorder ETN001
Ebd Inversa EBD004
Ebd, Bart Type EBD002
Ebd, Localisata Variant EBD003
Ebola Hemorrhagic Fever EBL001 EHF
Ebstein Anomaly EBS001
Eccrine Acrospiroma ECC002
Eccrine Adenocarcinoma ECC005
Eccrine Porocarcinoma ECC004
Ece1-Related Hirschsprung Disease EC1001
Echinococcosis ECH003
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 HED
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ECT062
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type ECT060
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ECT058
Ectodermal Dysplasia 3, Witkop Type ECT063
Ectodermal Dysplasia 4, Hair/nail Type ECT067 HNED
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 Skin Fragility Syndrome ECT051
Ectodermal Dysplasia-Syndactyly Syndrome 1 ECT045 EDSS
Ectodermal Dysplasia-Syndactyly Syndrome 2 ECT041
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency ECT032
Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency ECT044
Ectomesenchymoma ECT002
Ectopia Lentis Et Pupillae ECT033
Ectopia Lentis, Familial ECT038
Ectopia Lentis, Isolated ECT034
Ectopia Lentis, Isolated Autosomal Recessive ECT025
Ectopic Pregnancy ECT026
Ectopic Thymus ECT003
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 ECT042
Ectropion ECT005
Eculizumab, Poor Response to ECL002
Eczema Herpeticum ECZ002
Edict Syndrome EDC001
Edn3-Related Hirschsprung Disease EDN002
Ednrb-Related Hirschsprung Disease EDN003
Edwards Syndrome EDW001
Eec Syndrome ECS001
Eec Syndrome-1 ECS002
Eem Syndrome EMS001
Efavirenz Central Nervous System Toxicity EFV002
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 Kyphoscoliotic Type EHL014 EDS 6
Ehlers-Danlos Syndrome Progeroid Type EHL015
Ehlers-Danlos Syndrome Type Iv EHL009 EDS4
Ehlers-Danlos Syndrome Type Via EHL019
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss EHL042
Ehlers-Danlos Syndrome, Autosomal Dominant, Hypermobility Type EHL045
Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency EHL044
Ehlers-Danlos Syndrome, Cardiac Valvular Form EHL029
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, Hypermobility Type EHL034 BJHS
Ehlers-Danlos Syndrome, Kyphoscoliotic Form EHL035
Ehlers-Danlos Syndrome, Musculocontractural Type EHL025
Ehlers-Danlos Syndrome, Musculocontractural Type 1 EHL047
Ehlers-Danlos Syndrome, Musculocontractural Type 2 EHL046 ATCS
Ehlers-Danlos Syndrome, Progeroid Type, 1 EHL043 PDS
Ehlers-Danlos Syndrome, Type Vii EHL041
Ehlers-Danlos Syndrome, Type Viii EHL028
Ehlers-Danlos Syndrome, Vascular-Like Type EHL037
Ehlers-Danlos/osteogenesis Imperfecta Syndrome EHL036
Ehlers–danlos Syndrome Arthrochalasia Type EHL048
Ehlers–danlos Syndrome Classical Type EHL049
Ehlers–danlos Syndrome Dermatosparaxis Type EHL050
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
Eiken Syndrome EKN001
Eisenmenger Syndrome ESN011
Elane-Related Neutropenia ELN001
Elastosis Perforans Serpiginosa ELS002 EPS
Elephantiasis ELP001
Elliptocytosis 2 ELL005
Elliptocytosis 3 ELL006
Elliptocytosis-1 ELL007
Ellis-Van Creveld Syndrome ELL001
Eln-Related Cutis Laxa ELN002
Emanuel Syndrome EMN001 T
Emberger Syndrome EMB016
Embryonal Cancer EMB003
Embryonal Rhabdomyosarcoma EMB005 ERMS
Embryonal Sarcoma EMB007
Embryonal Tumor with Multilayered Rosettes EMB015 ETMR
Emd-Related Emery-Dreifuss Muscular Dystrophy, X-Linked EMD001
Emerinopathy EMR002
Emery-Dreifuss Muscular Dystrophy EMR001 EDMD
Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMR017
Emery-Dreifuss Muscular Dystrophy 2, Ad EMR011 EDMD
Emery-Dreifuss Muscular Dystrophy 3, Ar EMR012
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant EMR014
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant EMR015
Emery-Dreifuss Muscular Dystrophy 6, X-Linked EMR016
Emery-Dreifuss Muscular Dystrophy 7, Ad EMR013
Emphysema Due to Aat Deficiency EMP007
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 Due to Beta-Mercaptolactate-Cysteine Disulfiduria ENC032
Encephalopathy Due to Hydroxykynureninuria ENC034
Encephalopathy, Acute, Infection-Induced 6 ENC037
Encephalopathy, Acute, Infection-Induced, 4 ENC036 ANEC
Encephalopathy, Neonatal Severe ENC021
Enchondroma ENC014
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-Cerebroosteodysplasia END059
Endodermal Sinus Tumor END039
Endogenous Depression END040
Endolymphatic Hydrops END060
Endolymphatic Sac Tumor END051 ELST
Endometrial Adenocarcinoma END041
Endometrial Cancer, Familial END056
Endometrial Carcinoma END042
Endometrial Carcinoma, Somatic END058
Endometrial Mucinous Adenocarcinoma END001
Endometrial Stromal Nodule END003
Endometrial Stromal Sarcoma END031 ESS
Endometrial Stromal Tumor END043
Endometriosis END044
Endometriosis 1 END071
Endometriosis of Uterus END045
Endometritis END046
Endomyocardial Fibroelastosis END052
Endomyocardial Fibrosis END021 EMF
Endophthalmitis END047
Endosalpingiosis END007
Endotheliitis END072
Endotoxin Hyporesponsiveness END048
Endplate Acetylcholinesterase Deficiency END049
Eng-Related Hereditary Hemorrhagic Telangiectasia ENG003
Engraftment Syndrome ENG004
Enlarged Parietal Foramina ENL009 FPP
Enlarged Vestibular Aqueduct ENL001
Enlarged Vestibular Aqueduct, Digenic ENL010
Enolase Deficiency ENL002
Enophthalmos ENP001
Enterobiasis ENT003
Enterokinase Deficiency ENT006
Enteropathica ENT007
Enteropathy-Associated T-Cell Lymphoma ENT008 EATL
Enthesitis-Related Arthritis ENT015 ERA
Enthesopathy ENT004
Entropion ENT005
Eosinophil Peroxidase Deficiency ESN009
Eosinophilia ESN007
Eosinophilia-Myalgia Syndrome ESN002 EMS
Eosinophilic Colitis ESN022
Eosinophilic Cystitis ESN013
Eosinophilic Esophagitis ESN001 EOE
Eosinophilic Fasciitis ESN015 EF
Eosinophilic Gastritis ESN004
Eosinophilic Gastroenteritis ESN005 EGE
Eosinophilic Granulomatosis with Polyangiitis ESN020 EGPA
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
Epcam-Related Lynch Syndrome EPC004
Ependymoblastoma EPN001
Ependymoma EPN002
Epicondylitis EPC002
Epidemic Pleurodynia EPD011
Epidermal Appendage Tumor EPD010
Epidermal Nevus EPD037
Epidermal Nevus, Somatic EPD053
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 Pruriginosa EPD022
Epidermolysis Bullosa Simplex EPD003 EBS
Epidermolysis Bullosa Simplex Superficialis EPD052 EBSS
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 Pyloric Atresia EPD040
Epidermolysis Bullosa Simplex-Mp EPD056
Epidermolysis Bullosa Simplex, Dowling-Meara Type EPD028
Epidermolysis Bullosa Simplex, Generalized EPD029 EBS-K
Epidermolysis Bullosa Simplex, Localized EPD030
Epidermolysis Bullosa Simplex, Ogna Type EPD031 EBS-O
Epidermolysis Bullosa Simplex, Other Generalized EPD036
Epidermolysis Bullosa Simplex, Recessive 1 EPD058
Epidermolysis Bullosa Simplex, Sutosomal Recessive 2 EPD054
Epidermolysis Bullosa with Pyloric Atresia EPD025 EB-PA
Epidermolysis Bullosa, Junctional, with Pyloric Stenosis EPD045
Epidermolysis Bullosa, Lethal Acantholytic EPD033 EBLA
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive EPD055
Epidermolysis Bullosa, Pretibial EPD034
Epidermolytic Acanthoma EPD004
Epidermolytic Hyperkeratosis EPD002 EI
Epidermylysis Bullosa Simplex-Mcr EPD057
Epididymitis EPD046
Epididymo-Orchitis EPD018
Epidural Abscess EPD005
Epiglottitis EPG003
Epignathus EPG004
Epilepsy Syndrome EPL002
Epilepsy with Generalized Tonic-Clonic Seizures EPL001
Epilepsy with Neurodevelopmental Defects EPL080
Epilepsy, Childhood Absence, 1 EPL062
Epilepsy, Childhood Absence, Susceptibility to, 2 EPL018
Epilepsy, Childhood Absence, Susceptibility to, 4 EPL043
Epilepsy, Childhood Absence, Susceptibility to, 5 EPL044
Epilepsy, Childhood Absence, Susceptibility to, 6 EPL019
Epilepsy, Familial Adult Myoclonic, 4 EPL107
Epilepsy, Familial Adult Myoclonic, 5 EPL103 FAME
Epilepsy, Familial Focal, with Variable Foci EPL122 FFEVF
Epilepsy, Familial Mesial Temporal Lobe EPL047
Epilepsy, Familial Temporal Lobe, 1 EPL114 ADEAF
Epilepsy, Familial Temporal Lobe, 2 EPL115
Epilepsy, Familial Temporal Lobe, 4 EPL113
Epilepsy, Familial Temporal Lobe, 5 EPL081
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation EPL118 BRE
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 EPL120
Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 EPL067
Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 EPL041 GEFS+
Epilepsy, Generalized, with Febrile Seizures Plus, Type 4 EPL036
Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 EPL100
Epilepsy, Generalized, with Febrile Seizures Plus, Type 6 EPL111
Epilepsy, Generalized, with Febrile Seizures Plus, Type 7 EPL105
Epilepsy, Hot Water, 1 EPL074
Epilepsy, Hot Water, 2 EPL075
Epilepsy, Idiopathic Generalized 11 EPL084
Epilepsy, Idiopathic Generalized 2 EPL092
Epilepsy, Idiopathic Generalized 3 EPL091
Epilepsy, Idiopathic Generalized 4 EPL089
Epilepsy, Idiopathic Generalized 5 EPL090
Epilepsy, Idiopathic Generalized 6 EPL087
Epilepsy, Idiopathic Generalized 7 EPL093
Epilepsy, Idiopathic Generalized 9 EPL086
Epilepsy, Idiopathic Generalized, 10 EPL039
Epilepsy, Idiopathic Generalized, Susceptibility to, 8 EPL020
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 EPL101
Epilepsy, Juvenile Absence, Susceptibility to, 1 EPL054 JAE
Epilepsy, Juvenile Absence, Susceptibility to, 2 EPL065
Epilepsy, Juvenile Myoclonic 3 EPL056
Epilepsy, Juvenile Myoclonic 5 EPL094
Epilepsy, Juvenile Myoclonic 6 EPL085
Epilepsy, Juvenile Myoclonic 8 EPL083 JME
Epilepsy, Juvenile Myoclonic, Susceptiblity to, 9 EPL106
Epilepsy, Myoclonic, Familial Adult, 3 EPL109
Epilepsy, Nocturnal Frontal Lobe, 1 EPL073
Epilepsy, Nocturnal Frontal Lobe, 3 EPL072
Epilepsy, Nocturnal Frontal Lobe, 5 EPL096
Epilepsy, Nocturnal Frontal Lobe, Type 2 EPL035
Epilepsy, Nocturnal Frontal Lobe, Type 4 EPL071
Epilepsy, Partial, with Pericentral Spikes EPL050
Epilepsy, Progressive Myoclonic 1a EPL121 ULD
Epilepsy, Progressive Myoclonic 2a EPL048
Epilepsy, Progressive Myoclonic 2b EPL070
Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure EPL108
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, Childhood-Onset EPL116
Epileptic Encephalopathy, Early Infantile, 1 EPL037
Epileptic Encephalopathy, Early Infantile, 11 EPL023
Epileptic Encephalopathy, Early Infantile, 12 EPL024 MPEI
Epileptic Encephalopathy, Early Infantile, 13 EPL082
Epileptic Encephalopathy, Early Infantile, 16 EPL117 PMED
Epileptic Encephalopathy, Early Infantile, 17 EPL119 EIEE
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, 3 EPL026
Epileptic Encephalopathy, Early Infantile, 4 EPL027
Epileptic Encephalopathy, Early Infantile, 5 EPL028
Epileptic Encephalopathy, Early Infantile, 7 EPL068
Epileptic Encephalopathy, Early Infantile, 8 EPL038
Epilespy, Generalized, with Febrile Seizures Plus, Type 8 EPL110
Epimerase Deficiency Galactosemia EPM005
Epiphyseal Dysplasia Multiple with Early-Onset Diabetes Mellitus EPP006 WRS
Epiphyseal Dysplasia, Multiple, 6 EPP009
Epiphyseal Dysplasia, Multiple, with Myopathy EPP007
Epiphyseal Dysplasia, Multiple, with Myopia and Deafness EPP008
Episodic Ataxia EPS003 EA
Episodic Ataxia Type 1 EPS020 EA1
Episodic Ataxia Type 2 EPS007
Episodic Ataxia Type 5 EPS009
Episodic Ataxia Type 6 EPS010
Episodic Ataxia with Nystagmus EPS008 EA2
Episodic Ataxia, Type 3 EPS014
Episodic Ataxia, Type 7 EPS015
Episodic Kinesigenic Dyskinesia 1 EPS030
Episodic Muscle Weakness, X-Linked EPS012
Episodic Pain Syndrome, Familial EPS029 FEPS
Episodic Pain Syndrome, Familial, 2 EPS027
Episodic Pain Syndrome, Familial, 3 EPS028
Epispadias EPS026
Epithelial Basement Membrane Corneal Dystrophy EPT014
Epithelial Malignant Thymoma EPT007
Epithelial-Myoepithelial Carcinoma EPT010 EMC
Epithelioid Hemangioendothelioma EPT020
Epithelioid Leiomyosarcoma EPT011
Epithelioid Malignant Peripheral Nerve Sheath Tumor EPT008
Epithelioid Sarcoma EPT012
Epithelioid Trophoblastic Tumor EPT003
Epm2a-Related Lafora Disease EPM004
Epsilon-Trimethyllysine Hydroxylase Deficiency EPS019
Epstein-Barr Virus Hepatitis EPS001
Epstein-Barr Virus-Associated Gastric Carcinoma EPS023
Epulis EPL003
Erb's Palsy ERB002
Ercc1-Related Xeroderma Pigmentosum ERC001
Ercc2-Related Xeroderma Pigmentosum ERC002
Ercc3-Related Xeroderma Pigmentosum ERC003
Ercc4-Related Xeroderma Pigmentosum ERC004
Ercc5-Related Xeroderma Pigmentosum ERC005
Ercc6-Related Cockayne Syndrome ERC006
Ercc8-Related Cockayne Syndrome ERC007
Erdheim-Chester Disease ERD001 ECD
Erysipelas ERY004
Erysipeloid ERY001
Erythema Elevatum Diutinum ERY017
Erythema Infectiosum ERY002
Erythema Multiforme ERY003 EM
Erythremias, Alpha- ERY026
Erythremias, Beta- ERY027
Erythrocyte Amp Deaminase Deficiency ERY039
Erythrocyte Galactose Epimerase Deficiency ERY041
Erythrocyte Lactate Transporter Defect ERY030
Erythrocytosis ERY013
Erythrocytosis Due to Bisphosphoglycerate Mutase Deficiency ERY044
Erythrocytosis, Somatic ERY045 PFCP
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige ERY046
Erythrokeratodermia Variabilis ERY006
Erythrokeratodermia Variabilis Et Progressiva ERY021 EKV
Erythromelalgia ERY008
Erythroplakia ERY023
Erythropoietic Protoporphyria ERY009 EPP
Erythropoietic Protoporphyria, Autosomal Recessive ERY016 EPP
Esophageal Atresia ESP020
Esophageal Basaloid Squamous Cell Carcinoma ESP010
Esophageal Cancer ESP021
Esophageal Cancer, Alcohol-Related ESP042
Esophageal Cancer, Somatic ESP037
Esophageal Disease ESP023
Esophageal Squamous Cell Carcinoma ESP028
Esophageal Squamous Cell Carcinoma, Somatic ESP043
Esophageal Varix ESP002
Esophagitis ESP024
Esophagitis, Eosinophilic, 1 ESP035
Esophagitis, Eosinophilic, 2 ESP034
Esophagus Squamous Cell Carcinoma ESP027
Esotropia EST005
Essential Hypertension ESS002
Essential Thrombocythemia ESS003
Essential Tremor ESS001 ETM1
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
Ethylene Glycol Poisoning ETH012
Ethylmalonic Encephalopathy ETH011 EME
Eumycotic Mycetoma EMY001
Euthyroid Sick Syndrome ETH004
Evans' Syndrome EVN001
Evc-Related Ellis-Van Creveld Syndrome EVC002
Evc2-Related Ellis-Van Creveld Syndrome EVC001
Ewing's Family of Tumors EWN002
Exanthem EXN002 RASH
Exanthema Subitum EXN001
Excessive Tearing EXC003
Exencephaly EXN003
Exercise-Induced Hyperinsulinemic Hypoglycemia EXR003 EIHI
Exfoliation Syndrome EXF001
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like EXF006
Exhibitionism EXH001
Exocrine Pancreatic Insufficiency EXC002
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis EXC004
Exophthalmos EXP004
Exostoses, Multiple, Type 1 EXS004
Exostoses, Multiple, Type 2 EXS005
Exostoses, Multiple, Type 3 EXS006
Exostosis EXS001
Exotropia EXT022
Exposure Keratitis EXP002
Expressive Language Disorder EXP001
Exstrophy of the Bladder EXS007
Exstrophy-Epispadias Complex EXS013 EEC
External Ear Carcinoma EXT023
Extragonadal Germ Cell Tumor EXT037
Extragonadal Seminoma EXT001
Extrahepatic Cholestasis EXT006
Extramedullary Plasmacytoma EXT010
Extraosseous Ewing's Sarcoma EXT031
Extrapontine Myelinolysis EXT039
Extrapulmonary Tuberculosis EXT033 EPTB
Extraskeletal Chondroma EXT012
Extraskeletal Ewing Sarcoma EXT052 EOE
Extraskeletal Mesenchymal Chondrosarcoma EXT003
Extraskeletal Myxoid Chondrosarcoma EXT019
Extratemporal Epilepsy EXT009
Extraventricular Neurocytoma EXT044
Extrinsic Allergic Alveolitis EXT034 HP
Exudative Vitreoretinopathy EXD001 ROP
Exudative Vitreoretinopathy 4 EXD004
Exudative Vitreoretinopathy 5 EXD006
Exudative Vitreoretinopathy-3 EXD003
Exudative Vitreoretinopathy, X-Linked EXD005
Eya1-Related Branchiootorenal Spectrum Disorders EY1001
Eya4-Related Dilated Cardiomyopathy EY4001
Eye Disease EYD002
Eyelid Disease EYL005
Eyelid Neoplasm EYL001
Eys-Related Retinitis Pigmentosa EYS001
Ezh2-Related Overgrowth EZH001