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
'Muscle Rigidity'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Musculoskeletal Diseases
Muscular Diseases
Muscle Rigidity
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Krabbe disease, late-onset form
[GALC]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
Nervous System Diseases
Neurologic Manifestations
Neuromuscular Manifestations
Muscle Hypertonia
Muscle Rigidity
Krabbe disease
(GDGDB)
[GALC]
Krabbe disease, infantile form
[GALC]
Krabbe disease, late-onset form
[GALC]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
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