| Disease ID | Source | Name | Description |
| 618395 | OMIM | Spondyloepimetaphyseal dysplasia with joint laxity, 3 (SEMDJL3) | An autosomal recessive bone disease characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones. The disease may be caused by variants affecting the gene represented in this entry. |