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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: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)