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GENE - TERM ANNOTATION REPORT

RGD ID: 1562343
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mageb3
Name: MAGE family member B3
Acc ID: DOID:0080156
Term: X-linked adrenal hypoplasia congenita
Definition: An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/books/NBK1431/ "DO" "DO", https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita "DO" "DO", https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/27376611 "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)
Mageb3 ISOMAGEB3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linkedPMID:17504899 PMID:20685758 PMID:21408189 PMID:26980296 PMID:28492532
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