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GENE - TERM ANNOTATION REPORT

RGD ID: 621871
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mt-co1
Name: mitochondrially encoded cytochrome c oxidase I
Acc ID: DOID:9008200
Term: Megalencephaly-Polydactyly Syndrome
Definition: An autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy. Caused by heterozygous mutation in the MYCN gene on chromosome 2p24.
Definition Source(s): OMIM:620748
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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