GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
'Cerebellar 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
Central Nervous System Diseases
Brain Diseases
Cerebellar Diseases
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]
ALG6-CDG
(GDGDB)
[ALG6]
ALG3-CDG
(GDGDB)
[ALG3]
ALG1-CDG
(GDGDB)
[ALG1]
B4GALT1-CDG
(GDGDB)
[B4GALT1]
COG8-CDG
[COG8]
COG5-CDG
[COG5]
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, congenital, type 1C
(GDGDB)
[FKRP]
LARGE-CDG (cong. muscular dystrophy spectrum)
[LARGE]
SRD5A3-CDG
[SRD5A3]
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