Term Name: | congenital adrenal insufficiency |
---|---|
Synonyms: | Adrenal insufficiency, congenital, with 46,XY sex reversal, ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, P450scc DEFICIENCY |
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. |
Ontology: | Human Disease [DOID:0050546] ( DOID:0050546 ) |