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
Genetic disorders of glycan synthesis
'Coagulation Protein Disorders'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Coagulation Disorders
Coagulation Protein Disorders
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]
COG8-CDG
[COG8]
COG4-CDG
[COG4]
SRD5A3-CDG
[SRD5A3]
DDOST-CDG
[DDOST]
PGM1-CDG
[PGM1]
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