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
'Corneal Diseases'
(
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
Eye Diseases
Corneal Diseases
Corneal Opacity
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Macular corneal dystrophy
[CHST6]
B3GALTL-CDG
[B3GALTL]
Macular corneal dystrophy
[CHST6]
Corneal Dystrophies, Hereditary
Macular corneal dystrophy
[CHST6]
B3GALTL-CDG
[B3GALTL]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
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