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
'Tumoral calcinosis, hyperphosphatemic, familial' 'GALNT3-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)
Disorders of O-linked glycosylation
Defects in O-GalNAc glycans
Tumoral calcinosis, hyperphosphatemic, familial
[GALNT3]
Genetic disorders of glycan synthesis (new nomenclature)
Congenital disorders of glycosylation (CDGs)
Defects in protein O-glycosylation
Defects in O-GalNAc glycan biosynthesis
GALNT3-CDG
[GALNT3]
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Skin and Connective Tissue Diseases
Skin Diseases
Skin Abnormalities
GALNT3-CDG
[GALNT3]
Stomatognathic Diseases
Stomatognathic System Abnormalities
Tooth Abnormalities
Dental Enamel Hypoplasia
GALNT3-CDG
[GALNT3]
Nutritional and Metabolic Diseases
Metabolic Diseases
Calcium Metabolism Disorders
Calcinosis
Vascular Calcification
GALNT3-CDG
[GALNT3]
GALNT3-CDG
[GALNT3]
Phosphorus Metabolism Disorders
Hyperphosphatemia
GALNT3-CDG
[GALNT3]
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