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
Genetic disorders of glycan synthesis
'CDG-IIi' 'COG5-CDG'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Defects in N-glycan biosynthesis
Disorders of N-linked glycosylation - Congenital disorders of glycosylation (CDGs)
Type II CDGs
CDG-IIi
[COG5]
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in multiple glycosylation and other pathways
Defects in vesicular transport
Defects in COG protein complex
COG5-CDG
[COG5]
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Cerebellar Diseases
COG5-CDG
[COG5]
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
COG5-CDG
[COG5]
Neurologic Manifestations
Neurobehavioral Manifestations
Communication Disorders
Language Disorders
Speech Disorders
COG5-CDG
[COG5]
Articulation Disorders
COG5-CDG
[COG5]
Intellectual Disability
COG5-CDG
[COG5]
Neuromuscular Manifestations
Muscle Hypotonia
COG5-CDG
[COG5]
Dyskinesias
Ataxia
COG5-CDG
[COG5]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Motor Skills Disorders
COG5-CDG
[COG5]
Intellectual Disability
COG5-CDG
[COG5]
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