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GENE - TERM ANNOTATION REPORT

RGD ID: 12455435
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Ca8
Name: carbonic anhydrase 8
Acc ID: DOID:0050997
Term: cerebellar ataxia, mental retardation and dysequlibrium syndrome
Definition: An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/books/NBK1138/ "DO", https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia "DO", https://www.ncbi.nlm.nih.gov/books/NBK1874/ "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)
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.