| Disease ID | Source | Name | Description |
| 118600 | OMIM | Chondrocalcinosis 2 (CCAL2) | Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |
| 123000 | OMIM | Craniometaphyseal dysplasia, autosomal dominant (CMDD) | An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. The disease is caused by variants affecting the gene represented in this entry. |