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
'Arthritis'
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
Musculoskeletal Diseases
Joint Diseases
Arthritis
Osteoarthritis
Spondyloepimetaphyseal dysplasia, pakistani type
[PAPSS2]
Diastrophic dysplasia
[SLC26A2]
Autosomal recessive multiple epiphyseal dysplasia
[SLC26A2]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Musculoskeletal Diseases
Joint Diseases
Arthritis
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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