All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormality of the kinin-kallikrein system | HP_0005559 | |
| Hepatic mastocytosis | HP_0031824 | |
| Intellectual disability, progressive | HP_0006887 | |
| Abnormality of the zygomatic arch | HP_0005557 | |
| Meningoencephalocele | HP_0006888 | |
| Ivory epiphysis of the distal phalanx of the 5th finger | HP_0004223 | |
| Elevated hypoxanthine-guanine phosphoribosyltransferase level | HP_0031822 | |
| Curved distal phalanx of the 5th finger | HP_0004226 | |
| Decreased waist to hip ratio | HP_0031820 | |
| Abnormal waist to hip ratio | HP_0031818 | |
| Short middle phalanx of the 5th finger | HP_0004220 | |
| Cone-shaped epiphysis of the distal phalanx of the 5th finger | HP_0004222 | |
| Diffuse peripheral demyelination | HP_0006881 | |
| Chronic lymphatic leukemia | HP_0005550 | |
| Severe hydrocephalus | HP_0006882 | |
| Absent cremaster reflex | HP_0031829 | |
| Abnormal superficial reflex | HP_0031828 | |
| Cerebellar hemangioblastoma | HP_0006880 | |
| Absent abdominal reflex | HP_0031827 | |
| Esophageal furrows | HP_0031858 |