| Disease ID | Source | Name | Description |
| 215045 | OMIM | Chondrodysplasia Blomstrand type (BOCD) | Severe skeletal dysplasia. The disease is caused by variants affecting the gene represented in this entry. |
| 156400 | OMIM | Metaphyseal chondrodysplasia, Jansen type (MCDJ) | A rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. The disease is caused by variants affecting the gene represented in this entry. |
| 600002 | OMIM | Eiken skeletal dysplasia (EISD) | A rare skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation. The disease is caused by variants affecting the gene represented in this entry. |
| 125350 | OMIM | Primary failure of tooth eruption (PFE) | Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption. The disease is caused by variants affecting the gene represented in this entry. |