GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (pathway-based classification term)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'Type I CDGs'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Pathogenesis
Genetic disorders of glycan synthesis (traditional nomenclature)
Defects in N-glycan biosynthesis
Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
Type I CDGs
CDG-Ia
(GDGDB)
[PMM2]
CDG-Ia, infantile multisystem stage
[PMM2]
CDG-Ia, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
CDG-Ia, adult stable disability stage
[PMM2]
CDG-Ib
(GDGDB)
[MPI]
CDG-Ic
(GDGDB)
[ALG6]
CDG-Id
(GDGDB)
[ALG3]
CDG-Ie
(GDGDB)
[DPM1]
CDG-If
(GDGDB)
[MPDU1]
CDG-Ig
(GDGDB)
[ALG12]
CDG-Ih
(GDGDB)
[ALG8]
CDG-Ii
(GDGDB)
[ALG2]
CDG-Ij
(GDGDB)
[DPAGT1]
CDG-Ik
(GDGDB)
[ALG1]
CDG-IL
(GDGDB)
[ALG9]
CDG-Im
[TMEM15]
CDG-In
[RFT1]
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