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combined oxidative phosphorylation deficiency 7
Summary
- Synonym
-
- COXPD7
- severe C12ORF65-related COXPD
- severe C12ORF65-related combined oxidative phosphorylation defect
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111487
- Mondo Disease Ontology
- ORDO
- OMIM
