primary coenzyme Q10 deficiency 3

Term ID

DOID:0070240

Synonyms

• coenzyme Q10 deficiency, primary, 3
• COQ10D3

Definition

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/17186472

References

• OMIM:614652

Ontology

Human Disease   ( DOID:0070240 )