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
'Digestive System Diseases'
(
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
Digestive System Diseases
Gastrointestinal Diseases
Esophageal Diseases
Deglutition Disorders
Esophageal Motility Disorders
Esophageal Spasm, Diffuse
Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)
(GDGDB)
[PIGA]
Intestinal Diseases
Protein-Losing Enteropathies
MPI-CDG
(GDGDB)
[MPI]
ALG6-CDG
(GDGDB)
[ALG6]
ALG8-CDG
(GDGDB)
[ALG8]
ALG8-CDG
(GDGDB)
[ALG8]
Gastrointestinal Hemorrhage
MPI-CDG
(GDGDB)
[MPI]
ALG11-CDG
[ALG11]
COG6-CDG
[COG6]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
Liver Diseases
Hepatomegaly
MPI-CDG
(GDGDB)
[MPI]
ALG8-CDG
(GDGDB)
[ALG8]
ALG2-CDG
(GDGDB)
[ALG2]
ALG1-CDG
(GDGDB)
[ALG1]
ALG9-CDG
(GDGDB)
[ALG9]
RFT1-CDG
[RFT1]
GCS1-CDG
(GDGDB)
[GCS1]
B4GALT1-CDG
(GDGDB)
[B4GALT1]
COG7-CDG
(GDGDB)
[COG7]
COG1-CDG
[COG1]
COG4-CDG
[COG4]
PIGM-CDG
[PIGM]
ALG13-CDG
[ALG13]
TMEM165-CDG
[TMEM165]
COG6-CDG
[COG6]
Hepatic Insufficiency
PMM2-CDG
(GDGDB)
[PMM2]
Hypertension, Portal
PIGM-CDG
[PIGM]
Liver Cirrhosis
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
COG4-CDG
[COG4]
COG6-CDG
[COG6]
PMM2-CDG
(GDGDB)
[PMM2]
MPI-CDG
(GDGDB)
[MPI]
ALG3-CDG
(GDGDB)
[ALG3]
ALG8-CDG
(GDGDB)
[ALG8]
ALG1-CDG
(GDGDB)
[ALG1]
SRD5A3-CDG
[SRD5A3]
DDOST-CDG
[DDOST]
PGM1-CDG
[PGM1]
COG6-CDG
[COG6]
Biliary Tract Diseases
Cholelithiasis
SEC23B-CDG
(GDGDB)
[SEC23B]
Digestive System Abnormalities
Anus, Imperforate
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
COG6-CDG
[COG6]
Hyperphosphatasia with mental retardation syndrome 1
[PIGV]
Multiple congenital anomalies-hypotonia-seizures syndrome 1
[PIGN]
Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)