GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (clinical findings)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'Hernia'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Hernia
Hernia, Abdominal
Hernia, Inguinal
ATP6VOA2-CDG
[ATP6V0A2]
Achondrogenesis type IB
[SLC26A2]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Bruck syndrome 2
(GDGDB)
[PLOD2]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Hernia, Ventral
Hernia, Umbilical
Achondrogenesis type IB
[SLC26A2]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Hernia
Hernia, Abdominal
Hernia, Inguinal
Galactosialidosis
(GDGDB)
[CTSA]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Hernia, Ventral
Hernia, Umbilical
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
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