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
'Muscular dystrophy, limb-girdle, type 2I'
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
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein O-glycosylation
Defects in O-mannosylglycan synthesis
FKRP-CDG (cong. muscular dystrophy spectrum)
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Heart Diseases
Cardiomyopathies
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Musculoskeletal Diseases
Bone Diseases
Spinal Diseases
Spinal Curvatures
Kyphosis
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Lordosis
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Scoliosis
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Muscular Diseases
Muscle Weakness
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Muscular Disorders, Atrophic
Muscular Dystrophies
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Nervous System Diseases
Neurologic Manifestations
Neuromuscular Manifestations
Muscle Hypotonia
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Muscular Atrophy
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Muscle Weakness
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Neuromuscular Diseases
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Mobility Limitation
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Respiratory Tract Diseases
Lung Diseases
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Respiration Disorders
Respiratory Insufficiency
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Psychiatry and Psychology
Mental Disorders
Mental Disorders Diagnosed in Childhood
Motor Skills Disorders
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
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