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VARIANT - TERM ANNOTATION REPORT

RGD ID: 151740856
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1478021
Name: NM_000127.3(EXT1):c.1536+1G>C
Acc ID: DOID:206
Term: hereditary multiple exostoses
Definition: An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. (DO)
Definition Source(s): http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html "DO" "DO", http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses "DO" "DO", http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses "DO" "DO", http://www.mheresearchfoundation.org/ "DO" "DO", http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis "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)
CV1478021 IAGP 8554872ClinVarClinVar Annotator: match by term: Multiple congenital exostosisPMID:10679937 PMID:11391482 PMID:16199547 PMID:16283885 PMID:19810120 PMID:28492532
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