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 degradation
'Muscle Hypertonia'
(
Integration tree
)
Pathogenesis
Genetic disorders of glycan degradation
Disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
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]
Muscle Spasticity
Fucosidosis
(GDGDB)
[FUCA1]
Tay-Sachs disease
(GDGDB)
[HEXA]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
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