OBO ID: DOID:0111480
Term Name: combined oxidative phosphorylation deficiency 10 Search Ontology:
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 MTO1 on chromosome 6q13. https://www.ncbi.nlm.nih.gov/pubmed/22608499
References:
Ontology: Human Disease   (DOID:0111480)
OTHER combined oxidative phosphorylation deficiency 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTO1 Combined oxidative phosphorylation deficiency 10 614702
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None