Summary Literature (0)

DOID:0050811 - congenital adrenal hyperplasia

Disease Ontology Definition: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.

Synonyms: adrenal hyperplasia 1, congenital lipoid adrenal hyperplasia , lipoid CAH,

Echinobase Genes :


OMIM:

MIM:201710 - lipoid congenital adrenal hyperplasia; lcah

MIM:201910 - adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

MIM:202110 - adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee