| Disease ID | Source | Name | Description |
| 618162 | OMIM | Spondyloepimetaphyseal dysplasia, Krakow type (SEMDK) | An autosomal recessive skeletal disorder characterized by severe spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with significant anterior bowing of all limbs, severe immunodeficiency, and developmental delay. The disease is caused by variants affecting the gene represented in this entry. |