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GENE - TERM ANNOTATION REPORT

RGD ID: 1307109
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ndufs2
Name: NADH:ubiquinone oxidoreductase core subunit S2
Acc ID: DOID:655
Term: inherited metabolic disorder
Definition: A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism "DO" "DO", http://www.ncbi.nlm.nih.gov/mesh/68008659 "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)
Ndufs2 ISONDUFS2 (Homo sapiens)1600573RGDmitochondrial complex I deficiency, OMIM:252010, DNA:point mutation:exon:R228Q 
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