combined oxidative phosphorylation deficiency 7

Term ID

DOID:0111487

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. https://www.ncbi.nlm.nih.gov/pubmed/20598281

References

• OMIM:613559
• ORDO:254930

Ontology

Human Disease   ( DOID:0111487 )