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Ehlers-Danlos syndrome arthrochalasia type 1

Summary
Definition
An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21.
Super Class
Ehlers-Danlos syndrome autosomal dominant disease
External Links
Disease Ontology
DOID:0080727
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1277 COL1A1 collagen type I alpha 1 chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
12842 Col1a1 collagen, type I, alpha 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29393 Col1a1 collagen type I alpha 1 chain
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024