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

MIM:613743

Ontology

Human Disease ( DOID:0050546 )

Relationships

is a type of: adrenal gland disease autosomal dominant disease autosomal recessive disease physical disorder

adrenal gland disease autosomal dominant disease autosomal recessive disease physical disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models