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Metadata
ID DOID:0070243
Name primary coenzyme Q10 deficiency 6
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
Xrefs

OMIM:614650

ORDO:280406

Subsets

DO_rare_slim

Synonyms

coenzyme Q10 deficiency, primary, 6 [EXACT]

COQ10D6 [EXACT]

familial steroid-resistant nephrotic syndrome with sensorineural deafness [EXACT]

Parent Relationships

is_a coenzyme Q10 deficiency disease

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