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GENE - TERM ANNOTATION REPORT

RGD ID: 1304709
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Car8
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" "DO", https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/28013290/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1874/ "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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Car8 ISSCar8 (Mus musculus)13592920MouseDOOMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 
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