Term Name: | combined oxidative phosphorylation deficiency 26 |
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Synonyms: | COXPD26 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. |
Ontology: | Human Disease [DOID:0111490] ( DOID:0111490 ) |