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
'Thrombocytopenia'
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
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Platelet Disorders
Thrombocytopenia
ALG8-CDG
(GDGDB)
[ALG8]
SLC35A1-CDG
[SLC35A1]
COG4-CDG
[COG4]
Tn polyagglutination syndrome, somatic (SOMATIC MUTATION)
[C1GALT1C1]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Platelet Disorders
Thrombocytopenia
Gaucher disease, type I
(GDGDB)
[GBA]
Gaucher disease, type II
(GDGDB)
[GBA]
Gaucher disease, type III
(GDGDB)
[GBA]
Niemann-Pick disease, type B
(GDGDB)
[SMPD1]
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