| Term Name: | combined oxidative phosphorylation deficiency 42 |
|---|---|
| Synonyms: | COXPD42 |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. |
| Ontology: | Human Disease [DOID:0112118] ( DOID:0112118 ) |