| Metadata | |
|---|---|
| ID | DOID:0112117 |
| Name | combined oxidative phosphorylation deficiency 40 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/26741492/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD40 [EXACT] QRSL1-related COXPD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |