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
'Female Urogenital Diseases and Pregnancy Complications'
(
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
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Kidney Diseases, Cystic
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
ALG9-CDG
(GDGDB)
[ALG9]
Nephrosis
Nephrotic Syndrome
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
ALG1-CDG
(GDGDB)
[ALG1]
COG6-CDG
[COG6]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
Urogenital Abnormalities
GCS1-CDG
(GDGDB)
[GCS1]
B3GALTL-CDG
[B3GALTL]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
Pregnancy Complications
Fetal Death
Achondrogenesis type IB
[SLC26A2]
Neonatal osseous dysplasia I
[SLC26A2]
Polyhydramnios
SLC35D1-CDG
[SLC35D1]
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