Diseases entities [0-9]
Entities range: 0-9
Entities count: 32
Entity ID | Entity name |
---|---|
1691506 | 15q overgrowth syndrome |
1698888 | 17-beta-hydroxysteroid dehydrogenase deficiency |
1698891 | 2,4 Dienoyl-CoA reductase deficiency |
1698892 | 2-hydroxyglutaric aciduria |
1698893 | 2-methylbutyryl-CoA dehydrogenase deficiency |
1698998 | 22q11.2 distal deletion syndrome |
1689010 | 22q13 deletion syndrome |
1698896 | 2p15-16.1 microdeletion syndrome |
1699157 | 2q31.1 microduplication syndrome |
1691113 | 2q37 deletion syndrome |
1687758 | 2q37 monosomy |
1698900 | 3 hydroxyisobutyric aciduria |
1698795 | 3-M syndrome |
1698898 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
1698899 | 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
1698897 | 3-methylcrotonyl-CoA carboxylase deficiency |
1689680 | 3-methylglutaconic aciduria |
1689454 | 3-methylglutaconic aciduria type 3 |
1710996 | 3-methylglutaconic aciduria type 5 |
1690535 | 3MC syndrome 1 |
1690515 | 3MC syndrome 3 |
1690994 | 46 XX gonadal dysgenesis |
1698902 | 46, XX/XY |
1691368 | 46,XX disorders of sex development |
1689447 | 48, XXXX |
1698903 | 49,XXXXY |
1691482 | 49,XXXYY syndrome |
1691496 | 49,XYYYY syndrome |
1688106 | 5-alpha-reductase deficiency |
1691489 | 7p22.1 microduplication syndrome |
1691454 | 7q11.23 microduplication syndrome |
1698905 | 8p23.1 duplication syndrome |