All terms in HP
| Label | Id | Description |
|---|---|---|
| Elevated 8(9)-cholestenol | HP_0003465 | |
| Hamartomatous stomach polyps | HP_0004795 | |
| Atlantoaxial instability | HP_0003467 | |
| Basal ganglia calcification | HP_0002135 | |
| Broad-based gait | HP_0002136 | |
| Multiple small bowel atresias | HP_0004797 | |
| Paradoxical increased cortisol secretion on dexamethasone suppression test | HP_0003466 | |
| Rectoperineal fistula | HP_0004792 | |
| Increased urinary O-linked sialopeptides | HP_0003461 | |
| Decreased circulating total IgA | HP_0003460 | |
| Esophageal ulceration | HP_0004791 | |
| Increased extraneuronal autofluorescent lipopigment | HP_0003463 | |
| Malrotation of small bowel | HP_0004794 | |
| Episodic ataxia | HP_0002131 | |
| Porencephalic cyst | HP_0002132 | |
| Elevated 8-dehydrocholesterol | HP_0003462 | |
| Hypoplasia of the small intestine | HP_0004790 | |
| Hyperuricemia | HP_0002149 | |
| Tethered cord | HP_0002144 | |
| Hypocalcemic tetany | HP_0003472 |