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combined oxidative phosphorylation deficiency

Disease Summary
Associated Targets (41)
Tbio

37

Tchem

3

Tdark

1


GARD Rare
Mondo Description A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.
Disease Ontology Description A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction, and has_material_basis_in autosomal recessive inheritance.
Mondo Term and Equivalent IDs
MONDO:0000732:  combined oxidative phosphorylation deficiency
GARD:0012893: 
OMIMPS:609060: