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GENE - TERM ANNOTATION REPORT

RGD ID: 12291816
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: CA12
Name: carbonic anhydrase 12
Acc ID: DOID:0111371
Term: isolated hyperchlorhidrosis
Definition: A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis, https://www.ncbi.nlm.nih.gov/pubmed/21184099
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)
CA12 ISORGD:13153277240710OMIM  
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