GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (single disease)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'Oligosaccharyltransferase TUSC3 subunit defect' 'TUSC3-CDG'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Pathogenesis
Genetic disorders of glycan synthesis (traditional nomenclature)
Defects in N-glycan biosynthesis
Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
Other CDGs
Oligosaccharyltransferase TUSC3 subunit defect
[TUSC3]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in N-glycosylation
Defects in oligosaccharyltransferase subunits
TUSC3-CDG
[TUSC3]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
TUSC3-CDG
[TUSC3]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Intellectual Disability
TUSC3-CDG
[TUSC3]
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