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Primary Coenzyme Q10 Deficiency 7

Disease ID: disease_node_17017

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DbxrefMIM:616276, ORDO:457185
SubclassofDOID_0050730
Data SourceDOID
SynonymsCOQ10D7, COQ4-related neonatal encephalomyopathy, coenzyme Q10 deficiency, primary, 7, neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Doid Labelprimary coenzyme Q10 deficiency 7
Doid DescriptionA primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11.
Disease Node Iddisease_node_17017
Doid IdDOID_0070244
Disease Has Basis InSO_0001537
LabelPrimary Coenzyme Q10 Deficiency 7