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GENE - TERM ANNOTATION REPORT

RGD ID: 620104
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gdf6
Name: growth differentiation factor 6
Acc ID: DOID:0081320
Term: multiple synostoses syndrome 4
Definition: A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/29130651/ "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)
Gdf6 ISOGDF6 (Homo sapiens)7240710OMIM  
Gdf6 ISOGDF6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple synostoses syndrome 4PMID:25741868 PMID:26643732 PMID:29130651
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