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
'Defects in N-glycan trimming'
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 N-glycosylation
Defects in N-glycosylation
Defects in N-glycan trimming
GCS1-CDG
(GDGDB)
[GCS1]
Mental retardation, autosomal recessive 15
[MAN1B1]
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