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Ehlers-Danlos syndrome arthrochalasia type 2

Summary
Definition
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.
Super Class
Ehlers-Danlos syndrome autosomal dominant disease
Disease Ontology
DOID:0080728
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1278 COL1A2 collagen type I alpha 2 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
12843 Col1a2 collagen, type I, alpha 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
84352 Col1a2 collagen type I alpha 2 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: December 9, 2024