| Disease ID | Source | Name | Description |
| 142669 | OMIM | Beukes familial hip dysplasia (BFHD) | A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. The disease is caused by variants affecting the gene represented in this entry. |
| 617974 | OMIM | Spondyloepimetaphyseal dysplasia, Di Rocco type (SEMDDR) | A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance. The disease is caused by variants affecting the gene represented in this entry. |