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
'Muscular Diseases'
(
Integration tree
)
Pathogenesis
Genetic disorders of glycan degradation
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]
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]
Muscle Weakness
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Tay-Sachs disease
(GDGDB)
[HEXA]
Sandhoff disease
(GDGDB)
[HEXB]
GM2-gangliosidosis, AB variant
(GDGDB)
[GM2A]
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]
Pompe disease
(GDGDB)
[GAA]
Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)