Version: 8.0.0
Date: Tue Jan 28 2025
congenital adrenal insufficiency
DOID:0050546
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • Adrenal insufficiency, congenital, with 46,XY sex reversal
  • ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
Cross References
Parent Terms
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None
Sources of Associations

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