| Metadata | |
|---|---|
| ID | DOID:0050546 |
| Name | congenital adrenal insufficiency |
| 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. https://en.wikipedia.org/wiki/Adrenal_insufficiency |
| Xrefs | |
| Synonyms |
Adrenal insufficiency, congenital, with 46,XY sex reversal [EXACT] ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE [EXACT] P450scc DEFICIENCY [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |