| Disease ID | Source | Name | Description |
| 130070 | OMIM | Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) | A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. The disease is caused by variants affecting the gene represented in this entry. |