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GENE - TERM ANNOTATION REPORT

RGD ID: 10734
Species: Mus musculus
RGD Object: Gene
Symbol: Hsd11b1
Name: hydroxysteroid 11-beta dehydrogenase 1
Acc ID: DOID:0090139
Term: cortisone reductase deficiency
Definition: An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency "DO" "DO", PMID:22476103 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Hsd11b1 ISOHSD11B1 (Homo sapiens)1625067RGDDNA:insertion,transversion:intron:86557insA, 83597T>G (human) 
Hsd11b1 ISOHSD11B1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:25526675
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