OBO ID: DOID:0050546
Term Name: congenital adrenal insufficiency Search Ontology:
Synonyms:
  • 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)
OTHER congenital adrenal insufficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP11A1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None