primary coenzyme Q10 deficiency 6

primary coenzyme Q10 deficiency 6

http://purl.obolibrary.org/obo/DOID_0070243

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. [ url:https://www.ncbi.nlm.nih.gov/pubmed/21540551 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness

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Term information

database cross reference

ORDO:280406
MIM:614650

Subsets

DO_rare_slim

acronym

COQ10D6

has obo namespace

disease_ontology

DOID:0070243

Term relations

Subclass of:

coenzyme Q10 deficiency disease
disease has basis in some structural_variant