| Disease ID | Source | Name | Description |
| 239300 | OMIM | Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) | A severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. The disease is caused by variants affecting the gene represented in this entry. |