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
'Disorders of glycosaminoglycan metabolism'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
(degradation)
Pathogenesis
Genetic disorders of glycan degradation
Disorders of glycosaminoglycan metabolism
Mucopolysaccharidosis I
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis III
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Mucopolysaccharidosis IV
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Maroteaux-Lamy syndrome, severe form
[ARSB]
Maroteaux-Lamy syndrome, mild form
[ARSB]
Maroteaux-Lamy syndrome, intermediate form
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
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