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
'Hereditary inclusion body myopathy type 2'
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)
Disorders of O-linked glycosylation
Defects in O-mannose glycans
Hereditary inclusion body myopathy type 2
[GNE]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in multiple glycosylation and other pathways
GNE-CDG (hereditary inclusion body myopathy)
Hereditary inclusion body myopathy type 2
[GNE]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Musculoskeletal Diseases
Muscular Diseases
Muscle Weakness
Hereditary inclusion body myopathy type 2
[GNE]
Nervous System Diseases
Neurologic Manifestations
Neuromuscular Manifestations
Muscular Atrophy
Hereditary inclusion body myopathy type 2
[GNE]
Muscle Weakness
Hereditary inclusion body myopathy type 2
[GNE]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Mobility Limitation
Hereditary inclusion body myopathy type 2
[GNE]
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