Ehlers-Danlos syndrome periodontal type 1

Summary
Definition
An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13.
Super Class
Ehlers-Danlos syndrome autosomal dominant disease
Disease Ontology
DOID:0080986
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
715 C1R complement C1r
Displaying all 2 entries
Gene ID Gene Symbol Description Source
50909 C1ra complement component 1, r subcomponent A
667277 C1rb complement component 1, r subcomponent B

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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