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Summary Literature (0)
DOID:0090140 - cortisone reductase deficiency 2

Disease Ontology Definition:A cortisone reductase deficiency that has_material_basis_in heterozygous mutation in the HSD11B1 gene on chromosome 1q32.

Synonyms: CORTRD2

Xenbase Genes : hsd11b1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013842 - cortisone reductase deficiency 2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): cortisone reductase deficiency (is_a)