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GENE - TERM ANNOTATION REPORT

RGD ID: 12259272
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: EP300
Name: E1A binding protein p300
Acc ID: DOID:9005988
Term: Multicystic Dysplastic Kidney
Definition: A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.
Definition Source(s): MESH:D021782
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)
EP300 ISOEP300 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multicystic dysplastic kidneyPMID:25741868 PMID:28492532 PMID:30143558
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