Term Name: | combined oxidative phosphorylation deficiency 29 |
---|---|
Synonyms: | COXPD29 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. |
Ontology: | Human Disease [DOID:0111501] ( DOID:0111501 ) |