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GENE - TERM ANNOTATION REPORT

RGD ID: 12484435
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Gpc6
Name: glypican 6
Acc ID: DOID:0080844
Term: omodysplasia 1
Definition: An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/17823719/ "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)
Gpc6 ISOGPC6 (Homo sapiens)7240710OMIM  
Gpc6 ISOGPC6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive omodysplasia | ClinVar Annotator: match by term: Omodysplasia generalized formPMID:19481194 PMID:25741868 PMID:28492532
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