Ehlers-Danlos syndrome periodontal type 1

Summary

DOID:0080986 - Ehlers-Danlos syndrome periodontal type 1

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: c1r

MIM:

MIM:130080 - EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1

MIM:130080 - EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Ehlers-Danlos syndrome (is_a)