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
'Immunologic Deficiency Syndromes'
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
Immune System Diseases
Immunologic Deficiency Syndromes
Dysgammaglobulinemia
ALG12-CDG
(GDGDB)
[ALG12]
ALG1-CDG
(GDGDB)
[ALG1]
COG6-CDG
[COG6]
Leukocyte-Adhesion Deficiency Syndrome
SLC35C1-CDG
(GDGDB)
[SLC35C1]
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
ALG12-CDG
(GDGDB)
[ALG12]
ALG1-CDG
(GDGDB)
[ALG1]
SLC35C1-CDG
(GDGDB)
[SLC35C1]
SLC35A1-CDG
[SLC35A1]
COG6-CDG
[COG6]
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