congenital adrenal insufficiency OMIM mapping confirmed by DO. [SN]. OMIM:613743 DOID:0050546 disease_ontology ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE 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. P450scc DEFICIENCY autosomal dominant disease autosomal recessive disease physical disorder adrenal gland disease