| Disease ID | Source | Name | Description |
| 618728 | OMIM | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (SEMDIST) | An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs. The disease is caused by variants affecting the gene represented in this entry. |