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
'Vision, Low'
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
Eye Diseases
Vision Disorders
Vision, Low
ALG3-CDG
(GDGDB)
[ALG3]
MPDU1-CDG
(GDGDB)
[MPDU1]
ALG1-CDG
(GDGDB)
[ALG1]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
B3GALTL-CDG
[B3GALTL]
ALG11-CDG
[ALG11]
Nervous System Diseases
Neurologic Manifestations
Sensation Disorders
Vision Disorders
Vision, Low
ALG3-CDG
(GDGDB)
[ALG3]
MPDU1-CDG
(GDGDB)
[MPDU1]
ALG1-CDG
(GDGDB)
[ALG1]
POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMT1,POMT2]
POMGNT1-CDG (cong. muscular dystrophy spectrum)
(GDGDB)
[POMGNT1]
Fukuyama congenital muscular dystrophy
(GDGDB)
[FKTN]
B3GALTL-CDG
[B3GALTL]
ALG11-CDG
[ALG11]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Neurologic Manifestations
Sensation Disorders
Vision Disorders
Vision, Low
Sialidosis
(GDGDB)
[NEU1]
Mucopolysaccharidosis II
(GDGDB)
[IDS]
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Gaucher disease, type IIIC
(GDGDB)
[GBA]
Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)