Term Name: | combined oxidative phosphorylation deficiency 27 |
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Synonyms: | COXPD27 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. |
Ontology: | Human Disease [DOID:0111489] ( DOID:0111489 ) |