| Disease ID | Source | Name | Description |
| 300106 | OMIM | Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) | An X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence. The disease is caused by variants affecting the gene represented in this entry. |
| 300989 | OMIM | Meester-Loeys syndrome (MRLS) | An X-linked, thoracic aortic aneurysm syndrome characterized by early-onset, severe aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia. The disease is caused by variants affecting the gene represented in this entry. |