Search Ontology:
Human Disease

primary coenzyme Q10 deficiency 6

Term ID
DOID:0070243
Synonyms
  • coenzyme Q10 deficiency, primary, 6
  • COQ10D6
  • familial steroid-resistant nephrotic syndrome with sensorineural deafness
Definition
A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/21540551
References
Ontology
Human Disease   ( DOID:0070243 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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