Term Name: | combined oxidative phosphorylation deficiency 33 |
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Synonyms: | COXPD33 |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. |
Ontology: | Human Disease [DOID:0111495] ( DOID:0111495 ) |