Term Name: | combined oxidative phosphorylation deficiency 9 |
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Synonyms: | COXPD9 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. |
Ontology: | Human Disease [DOID:0111472] ( DOID:0111472 ) |