Term Name: | combined oxidative phosphorylation deficiency 10 |
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Synonyms: | COXPD10, infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis, mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
Definition: | A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. |
Ontology: | Human Disease [DOID:0111480] ( DOID:0111480 ) |