| Metadata | |
|---|---|
| ID | DOID:0111487 |
| Name | combined oxidative phosphorylation deficiency 7 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD7 [EXACT] severe C12ORF65-related combined oxidative phosphorylation defect [EXACT] severe C12ORF65-related COXPD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |