GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (clinical findings)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
Genetic disorders of glycan synthesis
'Cartilage Diseases'
(
Integration tree
)
Pathogenesis (traditional nomenclature)
Genetic disorders of glycan synthesis (traditional nomenclature)
Pathogenesis (new nomenclature)
Genetic disorders of glycan synthesis (new nomenclature)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Musculoskeletal Diseases
Cartilage Diseases
Spondyloepimetaphyseal dysplasia, pakistani type
[PAPSS2]
Diastrophic dysplasia
[SLC26A2]
Achondrogenesis type IB
[SLC26A2]
Neonatal osseous dysplasia I
[SLC26A2]
Autosomal recessive multiple epiphyseal dysplasia
[SLC26A2]
SLC35D1-CDG
[SLC35D1]
Skin and Connective Tissue Diseases
Connective Tissue Diseases
Cartilage Diseases
Spondyloepimetaphyseal dysplasia, pakistani type
[PAPSS2]
Diastrophic dysplasia
[SLC26A2]
Achondrogenesis type IB
[SLC26A2]
Neonatal osseous dysplasia I
[SLC26A2]
Autosomal recessive multiple epiphyseal dysplasia
[SLC26A2]
SLC35D1-CDG
[SLC35D1]
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