You are using an outdated browser. Please upgrade your browser to improve your experience.

congenital adrenal hyperplasia

Disease Summary
Associated Targets (21)
Tclin

10

Tchem

7

Tbio

4


GARD Rare
Mondo Description 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 androgeny manifestations, depending of the type and the severity of the disease.
Disease Ontology Description A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
Mondo Term and Equivalent IDs
MONDO:0018479:  congenital adrenal hyperplasia
GARD:0001467: 
MESH:D000312: 
NCIT:C34360: 
Orphanet:418: 
SCTID:237751000: 
UMLS:C0001627: 
UMLS:C0701163: