| Disease ID | Source | Name | Description |
| 277600 | OMIM | Weill-Marchesani syndrome 1 (WMS1) | A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. The disease is caused by variants affecting the gene represented in this entry. |