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 androgyny manifestations resulting from steroidogenic enzyme deficiency.

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

Echinobase Genes :


MIM:

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: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

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