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GENE - TERM ANNOTATION REPORT

RGD ID: 18911845
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Nr0b1
Name: nuclear receptor subfamily 0 group B member 1
Acc ID: DOID:0111777
Term: 46,XY sex reversal 2
Definition: A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/567843 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7951319 "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)
Nr0b1 ISONR0B1 (Homo sapiens)7240710OMIM  
Nr0b1 ISONR0B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitivePMID:10599709 PMID:11748852 PMID:15841486 PMID:23512386 PMID:25741868 PMID:28492532 PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340
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