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
'Cardiomyopathy, dilated, 1X'
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
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein O-glycosylation
Defects in O-mannosylglycan synthesis
FKTN-CDG (cong. muscular dystrophy spectrum)
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Heart Diseases
Cardiomegaly
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Cardiomyopathies
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Musculoskeletal Diseases
Muscular Diseases
Muscle Weakness
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Muscular Disorders, Atrophic
Muscular Dystrophies
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Nervous System Diseases
Neurologic Manifestations
Neuromuscular Manifestations
Muscle Hypotonia
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Muscular Atrophy
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Muscle Weakness
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Neuromuscular Diseases
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Mobility Limitation
Cardiomyopathy, dilated, 1X
(GDGDB)
[FKTN]
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