eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hypophosphatasia |
| Symptom | C0036572|seizures |
| Sentences | 2 |
| PubMedID- 22394703 | hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report. |
| PubMedID- 25885527 | Pigt mutations cause congenital anomalies-seizures-hypotonia type 3, with hypophosphatasia as key feature . |
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