| Disease ID | Source | Name | Description |
| 250220 | OMIM | Spondylometaphyseal dysplasia, Sedaghatian type (SMDS) | A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. The disease is caused by variants affecting the gene represented in this entry. |