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
'Central Nervous System Diseases'
(
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
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Aspartylglucosaminuria
(GDGDB)
[AGA]
Fucosidosis
(GDGDB)
[FUCA1]
Sialidosis
(GDGDB)
[NEU1]
Mucolipidosis II (alpha/beta)
(GDGDB)
[GNPTAB]
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
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]
Fabry disease
(GDGDB)
[GLA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, atypical, due to saposin C deficiency
(GDGDB)
[PSAP]
Krabbe disease
(GDGDB)
[GALC]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
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]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Dementia
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Intracranial Hypertension
Hydrocephalus
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Cerebrovascular Disorders
Stroke
Fabry disease
(GDGDB)
[GLA]
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]
Spinal Cord Diseases
Spinal Cord Compression
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Ocular Motility Disorders
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Combined saposin deficiency
(GDGDB)
[PSAP]
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