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GENE - TERM ANNOTATION REPORT

RGD ID: 12341549
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: OTC
Name: ornithine transcarbamylase
Acc ID: DOID:0070195
Term: X-linked chronic granulomatous disease
Definition: A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/4039107 "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)
OTC ISOOTC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Granulomatous disease, chronic, X-linkedPMID:22929960 PMID:27701760 PMID:28492532
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