combined oxidative phosphorylation deficiency 3

Summary

DOID:0111486 - combined oxidative phosphorylation deficiency 3

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.

Synonyms: COXPD3, Fatal mitochondrial disease due to COXPD3, concentric cardiomyopathy, hypotonia, and lactic acidosis, encephalomyopathy, respiratory failure, and lactic acidosis, fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,

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

: tsfm

Other Model Organisms: AGR, 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)