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GENE - TERM ANNOTATION REPORT

RGD ID: 1345266
Species: Homo sapiens
RGD Object: Gene
Symbol: GDF5
Name: growth differentiation factor 5
Acc ID: DOID:0050794
Term: multiple synostoses syndrome
Definition: A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/ "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 ISSGdf5 (Mus musculus)13592920MouseDOOMIM:186500 | OMIM:610017 | OMIM:612961 
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