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
'Dyskinesias'
(
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
Central Nervous System Diseases
Movement Disorders
Dyskinesias
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Sialidosis
(GDGDB)
[NEU1]
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Tay-Sachs disease
(GDGDB)
[HEXA]
Sandhoff disease
(GDGDB)
[HEXB]
Gaucher disease, type II
(GDGDB)
[GBA]
Krabbe disease
(GDGDB)
[GALC]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Combined saposin deficiency
(GDGDB)
[PSAP]
Neurologic Manifestations
Dyskinesias
Ataxia
Aspartylglucosaminuria
(GDGDB)
[AGA]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Sialidosis
(GDGDB)
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Tay-Sachs disease
(GDGDB)
[HEXA]
Sandhoff disease
(GDGDB)
[HEXB]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Dystonia
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Myoclonus
Sialidosis
(GDGDB)
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
Combined saposin deficiency
(GDGDB)
[PSAP]
Tremor
Sialidosis
(GDGDB)
[NEU1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Hyperkinesis
Combined saposin deficiency
(GDGDB)
[PSAP]
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