Term Name: | combined oxidative phosphorylation deficiency 55 |
---|---|
Synonyms: | COXPD55 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0070428] ( DOID:0070428 ) |