Disease ID | Source | Name | Description |
130000 | OMIM | Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) | A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |