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

Xenbase Genes : cyp21a2, cyp21a2.2, cyp11a1, star, cyp17a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018479 - congenital adrenal hyperplasia

MIM:

MIM:201710 - LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH

MIM:201810 - ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY

MIM:201910 - ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

MIM:202010 - ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-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