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Primary Coenzyme Q10 Deficiency 6

Disease ID: disease_node_17018

Connections displayed (default: 10).
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DbxrefMIM:614650, ORDO:280406
SubclassofDOID_0050730
Data SourceDOID
SynonymsCOQ10D6, coenzyme Q10 deficiency, primary, 6, familial steroid-resistant nephrotic syndrome with sensorineural deafness
Doid Labelprimary coenzyme Q10 deficiency 6
Doid DescriptionA primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3.
Disease Node Iddisease_node_17018
Doid IdDOID_0070243
Disease Has Basis InSO_0001537
LabelPrimary Coenzyme Q10 Deficiency 6