| 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 | |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Hyperextensible skin has material basis in some autosomal dominant inheritance has phenotype some Joint hypermobility has phenotype some Widened atrophic scar |