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DO Term : congenital disorder of glycosylation [DOID:5212] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

synonyms:
MESH:D018981,
UMLS_CUI:C0282577,
ORDO:137,
NCI:C84615,
carbohydrate-deficient glycoprotein syndrome,
SNOMEDCT_US_2023_03_01:238049009,
GARD:10307

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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