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GENE - TERM ANNOTATION REPORT

RGD ID: 1305332
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mdm2
Name: MDM2 proto-oncogene
Acc ID: DOID:9004277
Term: Lessel-Kubisch Syndrome
Definition: A disease characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes.
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)
Mdm2 ISOMDM2 (Homo sapiens)7240710OMIM  
Mdm2 ISOMDM2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lessel-kubisch syndrome | ClinVar Annotator: match by term: MDM2-related conditionPMID:25741868 PMID:28492532 PMID:28846075
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