OBO ID: DOID:0070243
Term Name: primary coenzyme Q10 deficiency 6 Search Ontology:
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 primary coenzyme Q10 deficiency 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COQ6 Coenzyme Q10 deficiency, primary, 6 614650
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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