| Metadata | |
|---|---|
| ID | DOID:0111480 |
| Name | combined oxidative phosphorylation deficiency 10 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/22608499 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD10 [EXACT] infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis [EXACT] mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |