primary coenzyme Q10 deficiency 5

primary coenzyme Q10 deficiency 5

http://purl.obolibrary.org/obo/DOID_0070242

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. [ url:https://www.ncbi.nlm.nih.gov/pubmed/19375058 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome COQ10D5 coenzyme Q10 deficiency, primary, 5

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Term information

database cross reference

MIM:614654
ORDO:319678

Subsets

DO_rare_slim

acronym

COQ10D5

has obo namespace

disease_ontology

DOID:0070242

Term relations

Subclass of:

coenzyme Q10 deficiency disease
disease has basis in some structural_variant