primary coenzyme Q10 deficiency 2

primary coenzyme Q10 deficiency 2

http://purl.obolibrary.org/obo/DOID_0070239

A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. [ url:https://www.ncbi.nlm.nih.gov/pubmed/17332895 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: coenzyme Q10 deficiency, primary, 2 deafness-encephaloneuropathy-obesity-valvulopathy syndrome hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome COQ10D2

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database cross reference

MIM:614651
ORDO:254898

Subsets

DO_rare_slim

acronym

COQ10D2

has obo namespace

disease_ontology

DOID:0070239

Term relations

Subclass of:

coenzyme Q10 deficiency disease
disease has basis in some structural_variant