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GENE - TERM ANNOTATION REPORT

RGD ID: 1311916
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hps5
Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Acc ID: DOID:2213
Term: hemorrhagic disease
Definition: Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
Definition Source(s): MESH:D006474
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)
Hps5 ISOHPS5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Abnormal bleedingPMID:24033266 PMID:25741868 PMID:28492532
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