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combined oxidative phosphorylation deficiency 3 (DOID:0111486)
Alliance: disease page
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
Alt IDs: OMIM:610505, MESH:C566467, ORDO:168566, UMLS_CUI:C1864840
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory