congenital adrenal hyperplasia
MONDO:0018479Mondo
Findings
No curated finding names congenital adrenal hyperplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.
Definition from the Mondo Disease Ontology (MONDO:0018479), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (8)
- classic congenital adrenal hyperplasia
- classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- congenital lipoid adrenal hyperplasia due to STAR deficency
- non-classic congenital adrenal hyperplasia
Other names
3 names
Resolves to: congenital adrenal hyperplasia
- Also called
- adrenal hyperplasia, congenitalCAHcongenital adrenal gland hyperplasia