Term Name: | combined oxidative phosphorylation deficiency 45 |
---|---|
Synonyms: | COXPD45 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. |
Ontology: | Human Disease [DOID:0112113] ( DOID:0112113 ) |