combined oxidative phosphorylation deficiency 10

Summary

DOID:0111480 - combined oxidative phosphorylation deficiency 10

Disease Ontology 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.

Synonyms: COXPD10, infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis, mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mto1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)