All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal circulating sex hormone concentration | HP_0033799 | |
| Spasticity of facial muscles | HP_0002491 | |
| Abnormality of facial musculature | HP_0000301 | |
| Decreased small intestinal mucosa lactase level | HP_0025130 | |
| Abnormal small intestinal mucosa morphology | HP_0025129 | |
| Septo-optic dysplasia | HP_0100842 | |
| Optic nerve hypoplasia | HP_0000609 | |
| Absent septum pellucidum | HP_0001331 | |
| Increased CSF lactate | HP_0002490 | |
| Abnormal CSF lactate concentration | HP_0030085 | |
| Finger swelling | HP_0025131 | |
| Pancreatic fistula | HP_0100844 | |
| Palmoplantar pustulosis | HP_0100847 | |
| Pustule | HP_0200039 | |
| Neoplasm of the scrotum | HP_0100849 | |
| Neoplasm of the male external genitalia | HP_0100848 | |
| Abnormality of male external genitalia | HP_0000032 | |
| White lesion of the oral mucosa | HP_0025125 | |
| Oral hairy leukoplakia | HP_0025126 | |
| White streaks/specks on enamel. | HP_0025123 |