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 O-fucosylglycan synthesis'
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)
Disorders of O-linked glycosylation
Defects in O-fucosylglycan synthesis
Peters-plus syndrome
[B3GALTL]
Spondylocostal dysostosis 3, autosomal recessive
[LFNG]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein O-glycosylation
Defects in O-fucosylglycan synthesis
B3GALTL-CDG
[B3GALTL]
LFNG-CDG
[LFNG]
Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)