GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
Genetic disorders of glycan synthesis
'Cardiovascular Abnormalities'
(
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
Cardiovascular Diseases
Cardiovascular Abnormalities
Heart Defects, Congenital
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
COG1-CDG
[COG1]
B3GALTL-CDG
[B3GALTL]
SRD5A3-CDG
[SRD5A3]
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
[B3GAT3]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
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