All terms in HP
| Label | Id | Description |
|---|---|---|
| Intermittent thrombocytopenia | HP_0004854 | |
| Thrombocytopenia | HP_0001873 | |
| Orotic acid crystalluria | HP_0003526 | |
| Crystalluria | HP_0020074 | |
| Reduced protein S activity | HP_0004855 | |
| Abnormality of the protein C anticoagulant pathway | HP_0030780 | |
| Reduced leukocyte alkaline phosphatase | HP_0004852 | |
| Low alkaline phosphatase | HP_0003282 | |
| Recurrent deep vein thrombosis | HP_0004850 | |
| Deep venous thrombosis | HP_0002625 | |
| Folate-responsive megaloblastic anemia | HP_0004851 | |
| Megaloblastic anemia | HP_0001889 | |
| Disproportionate short-trunk short stature | HP_0003521 | |
| Abnormal axial skeleton morphology | HP_0009121 | |
| Disproportionate short stature | HP_0003498 | |
| Elevated calcitonin | HP_0003528 | |
| Abnormal calcium-phosphate regulating hormone level | HP_0100530 | |
| Hyperprostaglandinuria | HP_0003527 | |
| Amegakaryocytic thrombocytopenia | HP_0004859 | |
| Parathormone-independent increased renal tubular calcium reabsorption | HP_0003529 |

