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GENE - TERM ANNOTATION REPORT

RGD ID: 1347479
Species: Homo sapiens
RGD Object: Gene
Symbol: SCO2
Name: synthesis of cytochrome C oxidase 2
Acc ID: DOID:0070331
Term: mitochondrial DNA depletion syndrome 8b
Definition: A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30373120 "DO" "DO", https://www.omim.org/entry/612075 "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)
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