WormBase Tree Display for DO_term: DOID:0050546
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| DOID:0050546 | Name | congenital adrenal insufficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE | |||
| Adrenal insufficiency, congenital, with 46,XY sex reversal | |||||
| P450scc DEFICIENCY | |||||
| Parent | Is_a | DOID:9553 | |||
| DOID:0080015 | |||||
| DOID:0050736 | |||||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 613743 |
