| Disease ID | Source | Name | Description |
| 130080 | OMIM | Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) | A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |