FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term combined oxidative phosphorylation deficiency 3 ID (Ontology) DOID:0111486 (Human Disease)
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.
Also Known As "concentric cardiomyopathy, hypotonia, and lactic acidosis" ; "COXPD3" ; "encephalomyopathy, respiratory failure, and lactic acidosis" (for all, see Synonyms field below)
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 Genes
 combined oxidative phosphorylation deficiency 3       1
 for disease ribbon | combined oxidative phosphorylation deficiency 3       1
 model of | combined oxidative phosphorylation deficiency 3       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____________________
mitochondrial metabolism disease                   |
 |__combined oxidative phosphorylation deficiency__|
                                                   combined oxidative phosphorylation deficiency 3  1 rec.
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Is a autosomal recessive disease
combined oxidative phosphorylation deficiency
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Synonyms
  • "concentric cardiomyopathy, hypotonia, and lactic acidosis" EXACT
    "COXPD3" EXACT OMO:0003012
    "encephalomyopathy, respiratory failure, and lactic acidosis" EXACT
    "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" EXACT
    "Fatal mitochondrial disease due to COXPD3" EXACT
Secondary IDs
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MESH:C566467
MIM:610505
ORDO:168566
UMLS_CUI:C1864840