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 )

Relationships
is a type of: adrenal gland disease autosomal dominant disease autosomal recessive disease physical disorder