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
'Epilepsy'
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
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Epilepsy
Epilepsies, Myoclonic
ST3GAL5-CDG
[SIAT9]
Epilepsy, Generalized
Spasms, Infantile
ALG3-CDG
(GDGDB)
[ALG3]
ALG2-CDG
(GDGDB)
[ALG2]
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Status Epilepticus
ST3GAL5-CDG
[SIAT9]
Seizures
ST3GAL5-CDG
[SIAT9]
PMM2-CDG
(GDGDB)
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
ALG3-CDG
(GDGDB)
[ALG3]
ALG1-CDG
(GDGDB)
[ALG1]
MGAT2-CDG
(GDGDB)
[MGAT2]
COG7-CDG
(GDGDB)
[COG7]
COG8-CDG
[COG8]
ATP6VOA2-CDG
[ATP6V0A2]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
ALG13-CDG
[ALG13]
TMEM165-CDG
[TMEM165]
Mental retardation, autosomal recessive 15
[MAN1B1]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
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