GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
'Defect in GAG core biosynthesis'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Pathogenesis
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein O-glycosylation
Defects in O-xylosylglycan synthesis
Defect in GAG core biosynthesis
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
[B3GAT3]
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