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Metadata
ID DOID:0070242
Name primary coenzyme Q10 deficiency 5
Definition A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.
https://www.ncbi.nlm.nih.gov/pubmed/19375058
Xrefs

OMIM:614654

ORDO:319678

Subsets

DO_rare_slim

Synonyms

coenzyme Q10 deficiency, primary, 5 [EXACT]

COQ10D5 [EXACT]

encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome [EXACT]

Parent Relationships

is_a coenzyme Q10 deficiency disease

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