|  Help  |  About  |  Contact Us

DO Term : combined oxidative phosphorylation deficiency 10 [DOID:0111480] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:614702,
  • infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis,
  • ORDO:314637,
  • 614702,
  • COXPD10,
  • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents