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Human Disease
Ehlers-Danlos syndrome periodontal type 1
- Term ID
- DOID:0080986
- Synonyms
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- 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
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- GARD:12474
- MIM:130080
- ORDO:75392
- Ontology
- Human Disease ( DOID:0080986 )
- is a type of
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