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Summary Literature (1)
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 , lipoid CAH,

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

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018479 - congenital adrenal hyperplasia


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): physical disorder (is_a), steroid inherited metabolic disorder (is_a)