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 52 ID (Ontology) DOID:0070425 (Human Disease)
Definition A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11.
Also Known As "COXPD52"
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 Genes
 combined oxidative phosphorylation deficiency 52       1
 for disease ribbon | combined oxidative phosphorylation deficiency 52       1
 model of | combined oxidative phosphorylation deficiency 52       1
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autosomal genetic disease
 |__autosomal recessive disease____________________
mitochondrial metabolism disease                   |
 |__combined oxidative phosphorylation deficiency__|
                                                   combined oxidative phosphorylation deficiency 52  1 rec.
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Is a autosomal recessive disease
combined oxidative phosphorylation deficiency
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Synonyms
  • "COXPD52" EXACT OMO:0003012
Secondary IDs
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MIM:619386