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
'PGM1-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 (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein N-glycosylation
Defects in nucleotide-sugar biosynthesis
PGM1-CDG
[PGM1]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Cardiovascular Diseases
Heart Diseases
Cardiomyopathies
PGM1-CDG
[PGM1]
PGM1-CDG
[PGM1]
Vascular Diseases
Embolism and Thrombosis
Thrombosis
PGM1-CDG
[PGM1]
Cerebrovascular Disorders
PGM1-CDG
[PGM1]
Digestive System Diseases
Liver Diseases
PGM1-CDG
[PGM1]
Hemic and Lymphatic Diseases
Hematologic Diseases
Blood Coagulation Disorders
Coagulation Protein Disorders
PGM1-CDG
[PGM1]
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Maxillofacial Abnormalities
Jaw Abnormalities
Cleft Palate
PGM1-CDG
[PGM1]
Pierre Robin Syndrome
PGM1-CDG
[PGM1]
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Cerebrovascular Disorders
PGM1-CDG
[PGM1]
Pathological Conditions, Signs and Symptoms
Signs and Symptoms
Fatigue
PGM1-CDG
[PGM1]
Respiratory Tract Diseases
Respiration Disorders
Dyspnea
PGM1-CDG
[PGM1]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Mouth Abnormalities
Cleft Lip
Cleft Palate
PGM1-CDG
[PGM1]
Maxillofacial Abnormalities
Jaw Abnormalities
Cleft Palate
PGM1-CDG
[PGM1]
Pierre Robin Syndrome
PGM1-CDG
[PGM1]
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