| Description | OMIM Number |
| ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME; AAA | 231550 |
| ADRENAL HYPERPLASIA CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY | 201910 |
| ADRENAL HYPERPLASIA II | 201810 |
| ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM | 202370 |
| ADRENOLEUKODYSTROPHY; ALD | 300100 |
| ANDROGEN RECEPTOR; AR | 313700 |
| GLUCOCORTICOID RECEPTOR; GRL | 138040 |
| HYPERGLYCEROLEMIA | 307030 |
| KALLMANN SYNDROME 1; KAL1, KALLMANN SYNDROME 2; KAL2, KALLMANN SYNDROME 3; KAL3 | 308700, 147950, 244200 |
| PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY | 261515 |
| PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA | 264300 |
| PSEUDONEONATAL ADRENOLEUKODYSTROPHY | 264470 |
| PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH | 264600 |
| PSEUDOXANTHOMA ELASTICUM, AUTOSOMAL DOMINANT | 177850 |
