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
'Dyskinesias'
(
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
Nervous System Diseases
Central Nervous System Diseases
Movement Disorders
Dyskinesias
ST3GAL5-CDG
[SIAT9]
Neurologic Manifestations
Dyskinesias
Ataxia
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
DPM1-CDG
(GDGDB)
[DPM1]
COG8-CDG
[COG8]
COG5-CDG
[COG5]
COG4-CDG
[COG4]
SRD5A3-CDG
[SRD5A3]
Myoclonus
ALG6-CDG
(GDGDB)
[ALG6]
RFT1-CDG
[RFT1]
COG8-CDG
[COG8]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
ST3GAL5-CDG
[SIAT9]
Tremor
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
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