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
'Eye Diseases'
(
Integration tree
)
Pathogenesis
Genetic disorders of glycan degradation
Disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Eye Diseases
Corneal Diseases
Corneal Opacity
Mucolipidosis III (alpha/beta)
(GDGDB)
[GNPTAB]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
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]
Fabry disease
(GDGDB)
[GLA]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Eye Abnormalities
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Lens Diseases
Cataract
Alpha-mannosidosis
(GDGDB)
[MAN2B1]
Ocular Hypertension
Glaucoma
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
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]
Optic Nerve Diseases
Optic Atrophy
Optic Atrophies, Hereditary
Combined saposin deficiency
(GDGDB)
[PSAP]
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]
Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)