| Disease ID | Source | Name | Description |
| 126550 | OMIM | Calvarial doughnut lesions with bone fragility (CDL) | A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones. The disease may be caused by variants affecting the gene represented in this entry. |
| 126550 | OMIM | Calvarial doughnut lesions with bone fragility (CDL) | A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones. The disease may be caused by variants affecting the gene represented in this entry. |