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Congenital Disorder Of Glycosylation Type Iiq

Disease ID: disease_node_20462

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DbxrefMIM:617395, ORDO:435934
SubclassofDOID_0050571, DOID_0050737
Data SourceDOID
SynonymsCDG IIq, CDG2Q, CDGIIq, COG2-CDG, COG2-related congenital disorder of glycosylation
Doid Labelcongenital disorder of glycosylation type IIq
Doid DescriptionA congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20462
Doid IdDOID_0070269
Disease Has Basis InHP_0001197
LabelCongenital Disorder Of Glycosylation Type Iiq