Defective CHST3 causes SEDCJD

authored
created [InstanceEdit:3595173] Jassal, B, 2013-05-21
crossReference
dbId 3595172
disease
displayName Defective CHST3 causes SEDCJD
edited
eventOf
hasDiagram true
hasEHLD false
hasEvent
isInDisease true
isInferred false
lastUpdatedDate 2019-03-25
literatureReference
maxDepth 2
modified [InstanceEdit:9953280] Stephan, Ralf, 2025-06-02
name
  • Defective CHST3 causes SEDCJD
  • Defective CHST3 causes spondyloepiphyseal dysplasia with congenital joint dislocations
normalPathway [Pathway:R-HSA-2022870] CS-GAG biosynthesis
releaseDate 2014-09-30
reviewStatus [ReviewStatus:9821382] five stars
reviewed
schemaClass Pathway
species
stId R-HSA-3595172
summation
updateTrackers
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