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GENE - TERM ANNOTATION REPORT

RGD ID: 620102
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gdf5
Name: growth differentiation factor 5
Acc ID: DOID:0080788
Term: proximal symphalangism 2
Definition: A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/16892395/ "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)
Gdf5 ISOGDF5 (Homo sapiens)7240710OMIM  
Gdf5 ISOGDF5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gdf5 ISOGDF5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Symphalangism, proximal, 1BPMID:12121354 PMID:16014698 PMID:16127465 PMID:16532400 PMID:16892395 PMID:18283415 PMID:21976273 PMID:28492532
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