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 |