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GENE - TERM ANNOTATION REPORT

RGD ID: 18935880
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: LOC101700701
Name: cytochrome P450 11B1, mitochondrial
Acc ID: DOID:9008415
Term: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
Definition: This disease is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB.
Definition Source(s): OMIM:610600
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)
LOC101700701susceptibilityISOCYP11B2 (Homo sapiens)7240710OMIM  
LOC101700701 ISOCYP11B2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CMO II DEFICIENCY | ClinVar Annotator: match by term: CYP11B2-related disorderPMID:10965212 PMID:11174838 PMID:11196457 PMID:11549691 PMID:12788848 PMID:1346492 PMID:14250395 PMID:15240589 PMID:1594605 PMID:16118341 PMID:16733366 PMID:17576681 PMID:18710464 PMID:19116236 PMID:2044581 PMID:20494601 PMID:21237269 PMID:22465514 PMID:22565077 PMID:22801770 PMID:22931312 PMID:24033266 PMID:25102047 PMID:25741868 PMID:25968592 PMID:26936515 PMID:26956189 PMID:27125267 PMID:28492532 PMID:29201470 PMID:29582446 PMID:33098647 PMID:7485152 PMID:7792802 PMID:8530633 PMID:8954040 PMID:9360501 PMID:9536098 PMID:9625333 PMID:9703385 PMID:9814506
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