FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term primary coenzyme Q10 deficiency 1 ID (Ontology) DOID:0070238 (Human Disease)
Definition A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.
Also Known As "coenzyme Q deficiency 1" ; "CoQ deficiency 1" ; "CoQ10 deficiency, primary, 1" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       4
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 primary coenzyme Q10 deficiency 1       6      5      1
 ameliorates | primary coenzyme Q10 deficiency 1       1       --       --
 exacerbates | primary coenzyme Q10 deficiency 1       2       --       --
 for disease ribbon | primary coenzyme Q10 deficiency 1       --       1       --
 model of | primary coenzyme Q10 deficiency 1       2      1       --
 DOES NOT ameliorate | primary coenzyme Q10 deficiency 1       1       --       --
Spanning Tree (Parents/Children)
Only view relationship: 
  mitochondrial metabolism disease
   |__coenzyme Q10 deficiency disease
       |__primary coenzyme Q10 deficiency 1  12 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a coenzyme Q10 deficiency disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "coenzyme Q deficiency 1" EXACT
    "CoQ deficiency 1" EXACT
    "CoQ10 deficiency, primary, 1" EXACT
    "COQ10D1" EXACT OMO:0003012
    "ubiquinone deficiency 1" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:607426