| Metadata | |
|---|---|
| ID | DOID:0111473 |
| Name | combined oxidative phosphorylation deficiency 5 |
| Definition | A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. https://www.ncbi.nlm.nih.gov/pubmed/17873122, https://www.ncbi.nlm.nih.gov/pubmed/21189481 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD5 [EXACT] hypotonia with lactic acidemia and hyperammonemia [EXACT] |
| Parent Relationships |