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Nuclear Type Mitochondrial Complex I Deficiency 5

Disease ID: disease_node_17010

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DbxrefMIM:618226
SubclassofDOID_0112065, DOID_0050737
Data SourceDOID
SynonymsMC1DN5
Doid Labelnuclear type mitochondrial complex I deficiency 5
Doid DescriptionA nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_17010
Doid IdDOID_0112068
LabelNuclear Type Mitochondrial Complex I Deficiency 5