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
'CDG-IIi' 'COG5-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)
Type II CDGs
CDG-IIi
[COG5]
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]
Hereditary disorders by systems
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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