All terms in HP
| Label | Id | Description |
|---|---|---|
| Macular crystals | HP_0030501 | |
| Increased red cell osmotic resistance | HP_0005546 | |
| Hypometric upward saccades | HP_0031833 | |
| Reduced protein C activity | HP_0005543 | |
| Pinguecula | HP_0031830 | |
| Decreased serum zinc | HP_0031831 | |
| Congenital agranulocytosis | HP_0005541 | |
| Prolonged whole-blood clotting time | HP_0005542 | |
| Symmetrical progressive peripheral demyelination | HP_0006873 | |
| Lobar holoprosencephaly | HP_0006870 | |
| Red blood cell keratocytosis | HP_0005540 | |
| Retinal racemose hemangioma | HP_0030509 | |
| Retinal crystals | HP_0030507 | |
| Retinal cavernous hemangioma | HP_0030508 | |
| Freezing of gait | HP_0031825 | |
| Short distal phalanx of the 5th finger | HP_0004227 | |
| Intellectual disability, borderline | HP_0006889 | |
| Chronic leukemia | HP_0005558 | |
| Reduced hypoxanthine-guanine phosphoribosyltransferase level | HP_0031823 | |
| Abnormal hypoxanthine-guanine phosphoribosyltransferase level | HP_0031821 |