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
'Nutritional and Metabolic 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
Nutritional and Metabolic Diseases
Metabolic Diseases
Calcium Metabolism Disorders
Calcinosis
Vascular Calcification
GALNT3-CDG
[GALNT3]
Spondyloepimetaphyseal dysplasia, pakistani type
[PAPSS2]
Diastrophic dysplasia
[SLC26A2]
GALNT3-CDG
[GALNT3]
Glucose Metabolism Disorders
Hyperinsulinism
Insulin Resistance
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
Hypoglycemia
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
MPI-CDG
(GDGDB)
[MPI]
DOLK-CDG
[TMEM15]
Phosphorus Metabolism Disorders
Hyperphosphatemia
GALNT3-CDG
[GALNT3]
Nutrition Disorders
Overnutrition
Obesity
Mental retardation, autosomal recessive 15
[MAN1B1]
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