Term Name: | combined oxidative phosphorylation deficiency 25 |
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Synonyms: | COXPD25 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. |
Ontology: | Human Disease [DOID:0111468] ( DOID:0111468 ) |