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
'Signs and Symptoms, Digestive'
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
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Signs and Symptoms, Digestive
Constipation
DDOST-CDG
[DDOST]
Diarrhea
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
MPI-CDG
(GDGDB)
[MPI]
ALG3-CDG
(GDGDB)
[ALG3]
ALG8-CDG
(GDGDB)
[ALG8]
MGAT2-CDG
(GDGDB)
[MGAT2]
COG4-CDG
[COG4]
COG6-CDG
[COG6]
Vomiting
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
MPI-CDG
(GDGDB)
[MPI]
ALG3-CDG
(GDGDB)
[ALG3]
ALG8-CDG
(GDGDB)
[ALG8]
ST3GAL5-CDG
[SIAT9]
ALG11-CDG
[ALG11]
COG6-CDG
[COG6]
Abdominal Pain
Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)
(GDGDB)
[PIGA]
ALG3-CDG
(GDGDB)
[ALG3]
MGAT2-CDG
(GDGDB)
[MGAT2]
Lysosomal Storage Diseases
(degradation)
Hereditary disorders by systems
Genetic disorders of glycan degradation (by systems, signs and symptoms)
Diseases
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Signs and Symptoms, Digestive
Constipation
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Diarrhea
Aspartylglucosaminuria
(GDGDB)
[AGA]
Hurler syndrome
(GDGDB)
[IDUA]
Hurler-Scheie syndrome
(GDGDB)
[IDUA]
Scheie syndrome
(GDGDB)
[IDUA]
Sanfilippo syndrome A
(GDGDB)
[SGSH]
Sanfilippo syndrome B
(GDGDB)
[NAGLU]
Sanfilippo syndrome C
(GDGDB)
[HGSNAT]
Sanfilippo syndrome D
(GDGDB)
[GNS]
Wolman disease
(GDGDB)
[LIPA]
Vomiting
Niemann-Pick disease, type A
(GDGDB)
[SMPD1]
Wolman disease
(GDGDB)
[LIPA]
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