primary coenzyme Q10 deficiency 1

primary coenzyme Q10 deficiency 1

http://purl.obolibrary.org/obo/DOID_0070238

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. [ url:https://www.ncbi.nlm.nih.gov/pubmed/19375058 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: ubiquinone deficiency 1 coenzyme Q deficiency 1 CoQ10 deficiency, primary, 1 COQ10D1 CoQ deficiency 1

Tree view
Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

MIM:607426

acronym

COQ10D1

has obo namespace

disease_ontology

DOID:0070238

Term relations

Subclass of:

coenzyme Q10 deficiency disease
disease has basis in some structural_variant