Term Name: | combined oxidative phosphorylation deficiency 7 |
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Synonyms: | COXPD7, severe C12ORF65-related combined oxidative phosphorylation defect, severe C12ORF65-related COXPD |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. |
Ontology: | Human Disease [DOID:0111487] ( DOID:0111487 ) |