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Ehlers-Danlos syndrome classic type 2

Summary
Definition
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.
Super Class
Ehlers-Danlos syndrome autosomal dominant disease
Disease Ontology
DOID:0080726
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1290 COL5A2 collagen type V alpha 2 chain
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P05997 Collagen alpha-2(V) 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