Defective CHST14 causes EDS, musculocontractural type

authored
created [InstanceEdit:3595173] Jassal, B, 2013-05-21
crossReference
dbId 3595174
disease
displayName Defective CHST14 causes EDS, musculocontractural type
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 CHST14 causes EDS, musculocontractural type
  • Defective CHST14 causes Ehlers-Danlos syndrome musculocontractural type
normalPathway [Pathway:R-HSA-2022923] DS-GAG biosynthesis
releaseDate 2014-09-30
reviewStatus [ReviewStatus:9821382] five stars
reviewed
schemaClass Pathway
species
stId R-HSA-3595174
summation
updateTrackers
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