OBO ID: DOID:0112115 |
Term Name: | combined oxidative phosphorylation deficiency 46 | Search Ontology: | |
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Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/26741492/ | ||
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Ontology: | Human Disease ( DOID:0112115 ) |
OTHER combined oxidative phosphorylation deficiency 46 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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