combined oxidative phosphorylation deficiency 3

Term ID

DOID:0111486

Synonyms

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

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. (2)

References

• MESH:C566467
• MIM:610505
• ORDO:168566
• UMLS_CUI:C1864840

Ontology

Human Disease   ( DOID:0111486 )