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
'Clubfoot'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Limb Deformities, Congenital
Lower Extremity Deformities, Congenital
Foot Deformities, Congenital
Clubfoot
Diastrophic dysplasia
[SLC26A2]
Achondrogenesis type IB
[SLC26A2]
Neonatal osseous dysplasia I
[SLC26A2]
Autosomal recessive multiple epiphyseal dysplasia
[SLC26A2]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Bruck syndrome 2
(GDGDB)
[PLOD2]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
[B3GAT3]
Spondyloepiphyseal dysplasia with congenital joint dislocations
[CHST3]
Ehlers-Danlos syndrome, musculocontractural type
[CHST14]
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