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Metadata
ID DOID:0070239
Name primary coenzyme Q10 deficiency 2
Definition A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1.
https://www.ncbi.nlm.nih.gov/pubmed/17332895
Xrefs

OMIM:614651

ORDO:254898

Synonyms

coenzyme Q10 deficiency, primary, 2 [EXACT]

COQ10D2 [EXACT]

deafness-encephaloneuropathy-obesity-valvulopathy syndrome [EXACT]

hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome [EXACT]

Parent Relationships

is_a coenzyme Q10 deficiency disease

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