Search Ontology:
Human Disease
congenital adrenal insufficiency
- Term ID
- DOID:0050546
- 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. https://en.wikipedia.org/wiki/Adrenal_insufficiency
- References
- Ontology
- Human Disease ( DOID:0050546 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models
Citations