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Ehlers-Danlos Syndrome (Classic Type)

Prevalence: 1/20000

connective_tissue

Official·OMIM:130000 Official·ORPHA287

Skin hyperelasticity and joint hypermobility due to COL5A1/COL5A2 gene mutations.

Associated Genes

COL5A1Collagen Type V Alpha 1 Chain

Chromosome 9Autosomal Dominant

COL5A2Collagen Type V Alpha 2 Chain

Chromosome 2Autosomal Dominant