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 glycoprotein degradation'
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 glycoprotein metabolism
Defects in glycoprotein degradation
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Mannosidase deficiency diseases
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Alpha-mannosidosis, type I (early-onset)
[MAN2B1]
Alpha-mannosidosis, type II (later-onset)
[MAN2B1]
Beta-mannosidosis
(GDGDB)
[MANBA]
Sialidosis
(GDGDB)
[NEU1]
Sialidosis type I
[NEU1]
Sialidosis type II
[NEU1]
Sialidosis type II, congenital form
[NEU1]
Sialidosis type II, infantile form
[NEU1]
Sialidosis type II, juvenile form
[NEU1]
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