GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
'Defects in N-glycosylation'
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
TMEM165-CDG
[TMEM165]
Defects in oligosaccharyltransferase subunits
TUSC3-CDG
[TUSC3]
DDOST-CDG
[DDOST]
Defects in N-glycan trimming
GCS1-CDG
(GDGDB)
[GCS1]
Mental retardation, autosomal recessive 15
[MAN1B1]
Defect in N-glycan branching
MGAT2-CDG
(GDGDB)
[MGAT2]
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