| Disease ID | Source | Name | Description |
| 608361 | OMIM | Spondyloepiphyseal dysplasia type Kimberley (SEDK) | Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy. The disease is caused by variants affecting the gene represented in this entry. |
| 165800 | OMIM | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) | An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue. The disease is caused by variants affecting the gene represented in this entry. |
| 612813 | OMIM | Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG) | A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. The disease is caused by variants affecting the gene represented in this entry. |