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GENE - TERM ANNOTATION REPORT

RGD ID: 1315035
Species: Mus musculus
RGD Object: Gene
Symbol: Car9
Name: carbonic anhydrase 9
Acc ID: DOID:0070434
Term: hyperphosphatasia with impaired intellectual development syndrome 2
Definition: A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22683086/ "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)
Car9 ISOCA9 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6PMID:22683086 PMID:24417746 PMID:28492532
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