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
'Myoclonus'
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
Neurologic Manifestations
Dyskinesias
Myoclonus
ALG6-CDG
(GDGDB)
[ALG6]
RFT1-CDG
[RFT1]
COG8-CDG
[COG8]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
ST3GAL5-CDG
[SIAT9]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Neurologic Manifestations
Dyskinesias
Myoclonus
Sialidosis
(GDGDB)
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Combined saposin deficiency
(GDGDB)
[PSAP]
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