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Human Disease

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
Ontology
Human Disease   ( DOID:0080986 )
Relationships
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Genes Involved
Zebrafish Models