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
'Retinal Degeneration'
(
Integration tree
)
Pathogenesis
Genetic disorders of glycan degradation
Disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Eye Diseases
Retinal Diseases
Retinal Degeneration
Sialidosis
(GDGDB)
[NEU1]
Sialidosis type I
[NEU1]
Sialidosis type II
[NEU1]
Sialidosis type II, infantile form
[NEU1]
Sialidosis type II, juvenile form
[NEU1]
Galactosialidosis
(GDGDB)
[CTSA]
Hurler syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
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]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Farber Lipogranulomatosis
(GDGDB)
[ASAH1]
Farber Lipogranulomatosis, type 1
[ASAH1]
Farber Lipogranulomatosis, type 5
[ASAH1]
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