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GENE - TERM ANNOTATION REPORT

RGD ID: 8882241
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Col2a1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0080045
Term: Kniest dysplasia
Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/kniest-dysplasia "DO" "DO", http://www.ksginfo.org/kniest.html "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.
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