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
'Neuromuscular Diseases'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Diseases
Nerve Compression Syndromes
EXT1/EXT2-CDG
[EXT1,EXT2]
Polyneuropathy
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
DPM1-CDG
(GDGDB)
[DPM1]
COG8-CDG
[COG8]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
Muscular dystrophy, limb-girdle, type 2M
(GDGDB)
[FKTN]
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Muscular dystrophy, congenital, type 1C
(GDGDB)
[FKRP]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
Duchenne muscular dystrophy
[DMD]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Diseases
Mononeuropathies
Median Neuropathy
Carpal Tunnel Syndrome
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Nerve Compression Syndromes
Carpal Tunnel Syndrome
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Mucopolysaccharidosis VI
(GDGDB)
(GDGDB)
[ARSB]
Mucopolysaccharidosis VII
(GDGDB)
[GUSB]
Beta-mannosidosis
(GDGDB)
[MANBA]
Tay-Sachs disease
(GDGDB)
[HEXA]
Fabry disease
(GDGDB)
[GLA]
Krabbe disease
(GDGDB)
[GALC]
Metachromatic leukodystrophy
(GDGDB)
[ARSA]
Metachromatic leukodystrophy, due to saposin B deficiency
(GDGDB)
[PSAP]
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