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
'Gastrointestinal Diseases'
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
Digestive System Diseases
Gastrointestinal Diseases
Esophageal Diseases
Deglutition Disorders
Esophageal Motility Disorders
Esophageal Spasm, Diffuse
Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)
(GDGDB)
[PIGA]
Intestinal Diseases
Protein-Losing Enteropathies
MPI-CDG
(GDGDB)
[MPI]
ALG6-CDG
(GDGDB)
[ALG6]
ALG8-CDG
(GDGDB)
[ALG8]
ALG8-CDG
(GDGDB)
[ALG8]
Gastrointestinal Hemorrhage
MPI-CDG
(GDGDB)
[MPI]
ALG11-CDG
[ALG11]
COG6-CDG
[COG6]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Gastrointestinal Diseases
Fabry disease
(GDGDB)
[GLA]
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