OBO ID: DOID:0111496 |
Term Name: | combined oxidative phosphorylation deficiency 17 | Search Ontology: | |
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Definition: | A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. https://www.ncbi.nlm.nih.gov/pubmed/23849775 | ||
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Ontology: | Human Disease ( DOID:0111496 ) |
OTHER combined oxidative phosphorylation deficiency 17 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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