Ehlers-Danlos syndrome periodontal type 1 Disease Ontology Browser

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Disease Ontology Browser

Ehlers-Danlos syndrome periodontal type 1 (DOID:0080986)
Alliance: disease page
Alt IDs: OMIM:130080, ORDO:75392
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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