FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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General Information
Term combined oxidative phosphorylation deficiency 53 ID (Ontology) DOID:0070426 (Human Disease)
Definition A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33.
Also Known As "COXPD53"
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 Genes
 combined oxidative phosphorylation deficiency 53       1
 for disease ribbon | combined oxidative phosphorylation deficiency 53       1
 model of | combined oxidative phosphorylation deficiency 53       1
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autosomal genetic disease
 |__autosomal recessive disease____________________
mitochondrial metabolism disease                   |
 |__combined oxidative phosphorylation deficiency__|
                                                   combined oxidative phosphorylation deficiency 53  1 rec.
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Is a autosomal recessive disease
combined oxidative phosphorylation deficiency
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Synonyms
  • "COXPD53" EXACT OMO:0003012
Secondary IDs
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MIM:619423