GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
'Defects in dolichol 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 multiple glycosylation and other pathways
Defects in dolichol biosynthesis
DOLK-CDG
[TMEM15]
SRD5A3-CDG
[SRD5A3]
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