| description | Protein which, if defective, causes congenital adrenal hyperplasia, a group of inherited disorders of cortisol biosynthesis. Defective cortisol biosynthesis results in compensatory hypersecretion of corticotropin with subsequent adrenal hyperplasia and excessive androgen production. Various clinical types are recognized: "salt wasting form" is the most severe type, "simple virilizing form" with normal aldosterone biosynthesis, "non-classic form" or late onset, and "cryptic form" or asymptomatic |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
