OBO ID: DOID:0111497 |
Term Name: | combined oxidative phosphorylation deficiency 34 | Search Ontology: | |
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Definition: | A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/25556185 | ||
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Ontology: | Human Disease ( DOID:0111497 ) |
OTHER combined oxidative phosphorylation deficiency 34 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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