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 6 ID (Ontology) DOID:0111502 (Human Disease)
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.
Also Known As "COXPD6" ; "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" ; "Mitochondrial encephalomyopathy due to COXPD6" (for all, see Synonyms field below)
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 Genes
 combined oxidative phosphorylation deficiency 6       1
 for disease ribbon | combined oxidative phosphorylation deficiency 6       1
 model of | combined oxidative phosphorylation deficiency 6       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease_____________________
mitochondrial metabolism disease                   |
 |__combined oxidative phosphorylation deficiency__|
                                                   combined oxidative phosphorylation deficiency 6  1 rec.
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Is a combined oxidative phosphorylation deficiency
X-linked recessive disease
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Synonyms
  • "COXPD6" EXACT OMO:0003012
    "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT
    "Mitochondrial encephalomyopathy due to COXPD6" EXACT
    "severe X-linked mitochondrial encephalomyopathy" EXACT
Secondary IDs
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MIM:300816
ORDO:238329