Ehlers-Danlos syndrome hypermobility type

Summary
Synonym
  • Ehlers-Danlos syndrome, type 3
  • type III Ehlers-Danlos syndrome
Definition
An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity.
Super Class
Ehlers-Danlos syndrome
Disease Ontology
DOID:14757
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1281 COL3A1 collagen type III alpha 1 chain
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02461 Collagen alpha-1(III) chain

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025