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GENE - TERM ANNOTATION REPORT

RGD ID: 732217
Species: Homo sapiens
RGD Object: Gene
Symbol: SLC26A2
Name: solute carrier family 26 member 2
Acc ID: DOID:9006836
Term: Contracture
Definition: Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
Definition Source(s): MESH:D003286
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)
SLC26A2 IAGP 11072411RGDassociated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) 
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