OBO ID: DOID:0112137 |
Term Name: | combined oxidative phosphorylation deficiency 51 | Search Ontology: | |
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Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. https://pubmed.ncbi.nlm.nih.gov/30607703/ | ||
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Ontology: | Human Disease ( DOID:0112137 ) |
OTHER combined oxidative phosphorylation deficiency 51 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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