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
'Musculoskeletal Pain'
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
Nervous System Diseases
Neurologic Manifestations
Pain
Musculoskeletal Pain
EXT1/EXT2-CDG
[EXT1,EXT2]
Autosomal recessive multiple epiphyseal dysplasia
[SLC26A2]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Neurologic Manifestations
Pain
Musculoskeletal Pain
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Fabry disease
(GDGDB)
[GLA]
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
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