| Disease ID | Source | Name | Description |
| 225410 | OMIM | Ehlers-Danlos syndrome, dermatosparaxis type (EDSDERMS) | A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The disease is caused by variants affecting the gene represented in this entry. |