ESCO2 Gene Mutation

Preferred Label : ESCO2 Gene Mutation;

NCIt synonyms : Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2 Gene Mutation; EFO2 Gene Mutation; Establishment Factor Ortholog 2 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the ESCO2 gene.;

NCI Metathesaurus CUI : CL1928414;

Details

Origin ID

C205747;

is_molecular_abnormality_of_disease
- Roberts Syndrome [NCIt concept]
- Roberts-SC Phocomelia Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- ESCO2 Gene [NCIt concept]

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