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
'Liver Diseases'
(
Integration tree
)
Pathogenesis
Genetic disorders of glycan degradation
Disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Digestive System Diseases
Liver Diseases
Hepatomegaly
Fucosidosis
(GDGDB)
[FUCA1]
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Sialidosis
(GDGDB)
[NEU1]
Schindler disease
Galactosialidosis
(GDGDB)
[CTSA]
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]
Morquio syndrome A
(GDGDB)
[GALNS]
Morquio syndrome B
(GDGDB)
[GLB1]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
GM1-gangliosidosis, type I
(GDGDB)
[GLB1]
GM1-gangliosidosis, type II
(GDGDB)
[GLB1]
GM1-gangliosidosis, type III
(GDGDB)
[GLB1]
Sandhoff disease
(GDGDB)
[HEXB]
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Gaucher disease, atypical, due to saposin C deficiency
(GDGDB)
[PSAP]
Multiple sulfatase deficiency
(GDGDB)
[SUMF1]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Combined saposin deficiency
(GDGDB)
[PSAP]
Wolman disease
(GDGDB)
[LIPA]
Pompe disease
(GDGDB)
[GAA]
Pompe disease, infantile-onset form
[GAA]
Niemann-Pick disease, type C1
(GDGDB)
[NPC1]
Niemann-Pick disease, type C2
(GDGDB)
[NPC2]
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