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Nuclear Type Mitochondrial Complex I Deficiency 27

Disease ID: disease_node_16989

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DbxrefMIM:618248
SubclassofDOID_0112065, DOID_0050737
Data SourceDOID
SynonymsMC1DN27
Doid Labelnuclear type mitochondrial complex I deficiency 27
Doid DescriptionA nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_16989
Doid IdDOID_0112090
LabelNuclear Type Mitochondrial Complex I Deficiency 27