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Ehlers-Danlos syndrome periodontal type 2

Summary
Definition
An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13.
Super Class
Ehlers-Danlos syndrome autosomal dominant disease
Disease Ontology
DOID:0080987
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
716 C1S complement C1s
Displaying all 2 entries
Gene ID Gene Symbol Description Source
50908 C1s1 complement component 1, s subcomponent 1
317677 C1s2 complement component 1, s subcomponent 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
192262 C1s complement C1s
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International Collaboration

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: December 9, 2024