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Metadata
ID	DOID:0080986
Name	Ehlers-Danlos syndrome periodontal type 1
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. https://pubmed.ncbi.nlm.nih.gov/27745832/
Xrefs	GARD:12474 MIM:130080 ORDO:75392
Subsets	DO_rare_slim
Parent Relationships	is_a Ehlers-Danlos syndrome is_a autosomal dominant disease