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
'Male Urogenital Diseases'
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
Male 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
B3GALTL-CDG
[B3GALTL]
Cryptorchidism
DPAGT1-CDG
(GDGDB)
[DPAGT1]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Hypospadias
ALG12-CDG
(GDGDB)
[ALG12]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Galactosialidosis
(GDGDB)
[CTSA]
Fabry disease
(GDGDB)
[GLA]
Renal Insufficiency
Galactosialidosis
(GDGDB)
[CTSA]
Fabry disease
(GDGDB)
[GLA]
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