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GENE - TERM ANNOTATION REPORT

RGD ID: 62298
Species: Mus musculus
RGD Object: Gene
Symbol: Smc3
Name: structural maintenance of chromosomes 3
Acc ID: DOID:11725
Term: Cornelia de Lange syndrome
Definition: A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome "DO" "DO", http://www.omim.org/entry/122470 "DO" "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract "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)
Smc3 ISOSMC3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Smc3 ISOSMC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: De Lange syndromePMID:18414213 PMID:25741868 PMID:28492532
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