Diseases List
 
 
DiagnosisOmim NumberSample Count
ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED13051001
ECTOPIA LENTIS, ISOLATED1296001
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC11299001
EHLERS-DANLOS SYNDROME, TYPE I; EDS113000012
EHLERS-DANLOS SYNDROME, TYPE II; EDS213001012
EHLERS-DANLOS SYNDROME, TYPE III13002024
EHLERS-DANLOS SYNDROME, TYPE VI2254006
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE2254101
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE13005048
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED 48
ELLIS-VAN CREVELD SYNDROME; EVC22550014
EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD13103002
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD21813503
ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)6063691
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS3006731
ENDOGLIN; ENG1311955
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD6030341
EOSINOPHILIC FASCITIS2263501
EPIDERMODYSPLASIA VERRUCIFORMIS2264003
EPIDERMOLYSIS BULLOSA LETALIS2267001
EPIDERMOLYSIS BULLOSA: DYSTROPHIC, JUNCTIONAL, OR SIMPLEX TYPES 69
EPILEPSY6006694173
EPILEPSY, CHILDHOOD ABSENCE, 1; ECA16001314
EPILEPSY, GENERALIZED, IDIOPATHIC; EGI6006695
EPILEPSY, PARTIAL6005122
EPILEPSY, TYPE UNKNOWN 2
ESSENTIAL TREMOR-MOVEMENT DISORDER19030039
EWING SARCOMA BREAKPOINT REGION 1; EWSR1, INCLUDED; EWS, INCLUDED; ES, INCLUDED1334501
EXOSTOSES, MULTIPLE, TYPE I; EXT11337001