| | Disease name | Disease category |
Adrenal insufficiency | H02314 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | Endocrine and metabolic disease |
Adrenal hyperplasia | H00216 | Congenital adrenal hyperplasia | Endocrine and metabolic disease |
AME syndrome | H00259 | Apparent mineralocorticoid excess syndrome | Endocrine and metabolic disease |
Cortisone reductase deficiency 2 | H01111 | Cortisone reductase deficiency | Endocrine and metabolic disease |
Cortisone reductase deficiency 1 | H01111 | Cortisone reductase deficiency | Endocrine and metabolic disease |
CBG deficiency | H01163 | Corticosteroid-binding globulin (CBG) deficiency | Endocrine and metabolic disease |
Aldosterone synthase deficiency | H00258 | Aldosterone synthase deficiency | Endocrine and metabolic disease |
46,XY DSD | H00608 | 46,XY disorder of sex development due to testosterone secretion defect | Reproductive system disease |
46,XY GD | H00607 | 46,XY gonadal dysgenesis | Reproductive system disease |
Aromatase deficiency | H02020 | Aromatase deficiency | Endocrine and metabolic disease |
Aromatase excess syndrome | H00794 | Aromatase excess syndrome | Endocrine and metabolic disease |