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GENE - TERM ANNOTATION REPORT

RGD ID: 8851300
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Clic2
Name: chloride intracellular channel 2
Acc ID: DOID:0050476
Term: Barth syndrome
Definition: A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Barth_syndrome "DO" "DO", http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 "DO" "DO", http://www.ninds.nih.gov/disorders/barth/barth.htm "DO" "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract "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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