| Metadata | |
|---|---|
| ID | DOID:0111466 |
| Name | combined oxidative phosphorylation deficiency 38 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. https://www.ncbi.nlm.nih.gov/pubmed/30358850 |
| Xrefs | |
| Synonyms |
COXPD38 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |