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
'Cataract'
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
Eye Diseases
Lens Diseases
Cataract
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
ALG2-CDG
(GDGDB)
[ALG2]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
B3GALTL-CDG
[B3GALTL]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
SRD5A3-CDG
[SRD5A3]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Eye Diseases
Lens Diseases
Cataract
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
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