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
Genetic disorders of glycan synthesis
'Bone Diseases, Metabolic'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Musculoskeletal Diseases
Bone Diseases
Bone Diseases, Metabolic
Osteoporosis
PMM2-CDG
(GDGDB)
[PMM2]
MGAT2-CDG
(GDGDB)
[MGAT2]
COG1-CDG
[COG1]
ATP6VOA2-CDG
[ATP6V0A2]
B4GALT7-CDG
[B4GALT7]
Bruck syndrome 2
(GDGDB)
[PLOD2]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
DDOST-CDG
[DDOST]
TMEM165-CDG
[TMEM165]
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
[B3GAT3]
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