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Congenital Disorders Of Glycosylation

Disease ID: disease_node_9854

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DbxrefGARD:10307, MESH:D018981, NCI:C84615, ORDO:137, SNOMEDCT_US_2023_03_01:238049009, UMLS_CUI:C0282577
SubclassofDOID_2978, DOID_0080015
Data SourceDOID, MESH
Synonymscarbohydrate-deficient glycoprotein syndrome
Mesh IdD018981
Mesh LabelCongenital Disorders of Glycosylation
Mesh SubclassofD002239
Doid Labelcongenital disorder of glycosylation
Doid DescriptionA carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. Xref MGI.
Disease Node Iddisease_node_9854
Doid IdDOID_5212
Disease Has Basis InHP_0001197
LabelCongenital Disorders Of Glycosylation