| Metadata | |
|---|---|
| ID | DOID:0111482 |
| Name | combined oxidative phosphorylation deficiency 36 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. https://www.ncbi.nlm.nih.gov/pubmed/29576219 |
| Xrefs | |
| Synonyms |
COXPD36 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |