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
'Joint Instability'
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
Joint Instability
ATP6VOA2-CDG
[ATP6V0A2]
B4GALT7-CDG
[B4GALT7]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
TMEM165-CDG
[TMEM165]
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
[B3GAT3]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
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