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DOID:0070239 - primary coenzyme Q10 deficiency 2
Disease Ontology Definition:A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.
Synonyms: COQ10D2, coenzyme Q10 deficiency, primary, 2, deafness-encephaloneuropathy-obesity-valvulopathy syndrome, hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome,
Xenbase Genes : pdss1
MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee