Ehlers-Danlos syndrome periodontal type 1

Term ID

DOID:0080986

Synonyms

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/

References

• GARD:12474
• OMIM:130080
• ORDO:75392

Ontology

Human Disease   ( DOID:0080986 )