| Diagnosis | Omim Number | Sample Count |
| ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 | 305100 | 1 |
| ECTOPIA LENTIS, ISOLATED | 129600 | 1 |
| ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 | 129900 | 1 |
| EHLERS-DANLOS SYNDROME, FRIEDMAN-HARROD TYPE | 130090 | 1 |
| EHLERS-DANLOS SYNDROME, TYPE I; EDS1 | 130000 | 14 |
| EHLERS-DANLOS SYNDROME, TYPE II; EDS2 | 130010 | 12 |
| EHLERS-DANLOS SYNDROME, TYPE III | 130020 | 24 |
| EHLERS-DANLOS SYNDROME, TYPE VI | 225400 | 9 |
| EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE | 225410 | 1 |
| EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | 130050 | 48 |
| EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED | 130090 | 47 |
| ELLIS-VAN CREVELD SYNDROME; EVC | 225500 | 14 |
| EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1 | 310300 | 2 |
| EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2 | 181350 | 3 |
| ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME) | 606369 | 9 |
| ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | 300673 | 1 |
| ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | 2 |
| ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD | 603034 | 1 |
| EOSINOPHILIC FASCITIS | 226350 | 1 |
| EPIDERMODYSPLASIA VERRUCIFORMIS | 226400 | 3 |
| EPIDERMOLYSIS BULLOSA LETALIS | 226700 | 1 |
| EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B | | 6 |
| EPIDERMOLYSIS BULLOSA: DYSTROPHIC, JUNCTIONAL, OR SIMPLEX TYPES | | 63 |
| EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1 | 600131 | 4 |
| EPILEPSY, GENERALIZED, IDIOPATHIC; EGI | 600669 | 5 |
| EPILEPSY, PARTIAL | 600512 | 2 |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25; EIEE25 | | 5 |
| EPISODIC ATAXIA, TYPE 2; EA2 | 108500 | 2 |
| ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 | | 1 |
| EWING SARCOMA BREAKPOINT REGION 1; EWSR1, INCLUDED; EWS, INCLUDED; ES, INCLUDED | 133450 | 1 |
| EXOSTOSES, MULTIPLE, TYPE I; EXT1 | 133700 | 1 |