congenital adrenal insufficiency (DOID:0050546)
Alliance: disease page
Synonyms: Adrenal insufficiency, congenital, with 46,XY sex reversal; ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE; P450scc DEFICIENCY
Alt IDs: OMIM:613743
Definition: An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.