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GENE - TERM ANNOTATION REPORT

RGD ID: 12673567
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Col6a2
Name: collagen type VI alpha 2 chain
Acc ID: DOID:0060942
Term: Ullrich congenital muscular dystrophy 1B
Definition: An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23622361/ "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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