GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (pathway-based classification term)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'Other CDGs'
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 (traditional nomenclature)
Defects in N-glycan biosynthesis
Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
Other CDGs
Oligosaccharyltransferase TUSC3 subunit defect
[TUSC3]
V-ATPase a2 subunit defect
[ATP6V0A2]
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