| Metadata | |
|---|---|
| ID | DOID:0111469 |
| Name | combined oxidative phosphorylation deficiency 16 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. https://www.ncbi.nlm.nih.gov/pubmed/23315540 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD16 [EXACT] infantile hypertrophic cardiomyopathy due to MRPL44 deficiency [EXACT] |
| Parent Relationships |