Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 10

Term ID
DOID:0111480
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. https://www.ncbi.nlm.nih.gov/pubmed/22608499
References
Ontology
Human Disease   ( DOID:0111480 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models