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GENE - TERM ANNOTATION REPORT

RGD ID: 18629896
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: TOP3A
Name: DNA topoisomerase III alpha
Acc ID: DOID:9009217
Term: Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2
Definition: An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies.
Definition Source(s): MIM:618097
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)
TOP3A ISOTOP3A (Homo sapiens)7240710OMIM  
TOP3A ISOTOP3A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 | ClinVar Annotator: match by term: TOP3A-related conditionPMID:25741868 PMID:26689913 PMID:28492532 PMID:30057030 PMID:37013609
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