| Metadata | |
|---|---|
| ID | DOID:0111470 |
| Name | combined oxidative phosphorylation deficiency 28 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. https://www.ncbi.nlm.nih.gov/pubmed/27132592 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD28 [EXACT] neonatal severe cardiopulmonary failure due to mitochondrial methylation defect [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |