Term Name: | combined oxidative phosphorylation deficiency 15 |
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Synonyms: | COXPD15 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. |
Ontology: | Human Disease [DOID:0111491] ( DOID:0111491 ) |