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
'Scoliosis'
(
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
Bone Diseases
Spinal Diseases
Spinal Curvatures
Scoliosis
GCS1-CDG
(GDGDB)
[GCS1]
Muscular dystrophy, limb-girdle, type 2I
(GDGDB)
[FKRP]
Spondyloepimetaphyseal dysplasia, pakistani type
[PAPSS2]
Diastrophic dysplasia
[SLC26A2]
Neonatal osseous dysplasia I
[SLC26A2]
Autosomal recessive multiple epiphyseal dysplasia
[SLC26A2]
LFNG-CDG
[LFNG]
Ehlers-Danlos syndrome, type VI
(GDGDB)
(GDGDB)
[PLOD1]
Lysyl hydroxylase 3 deficiency
(GDGDB)
[PLOD3]
ALG11-CDG
[ALG11]
ALG13-CDG
[ALG13]
TMEM165-CDG
[TMEM165]
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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