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GENE - TERM ANNOTATION REPORT

RGD ID: 10430
Species: Mus musculus
RGD Object: Gene
Symbol: Cyp11b2
Name: cytochrome P450, family 11, subfamily b, polypeptide 2
Acc ID: DOID:14080
Term: glucocorticoid-remediable aldosteronism
Definition: A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10852446/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/1731223/ "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)
Cyp11b2 ISOCYP11B2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:1472060 PMID:1731223
Cyp11b2 ISOCYP11B2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronismPMID:10965212 PMID:11174838 PMID:11549691 PMID:15324322 PMID:1594605 PMID:16118341 PMID:1731223 PMID:18710464 PMID:22465514 PMID:22931312 PMID:24033266 PMID:25102047 PMID:25741868 PMID:28492532 PMID:33098647 PMID:8530633 PMID:8954040 PMID:9703385 PMID:9814506
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