All terms in HP
| Label | Id | Description |
|---|---|---|
| Complex organic aciduria | HP_0008336 | |
| Ectopic ossification in tendon tissue | HP_0011988 | |
| Patchy reduction of bone mineral density | HP_0010657 | |
| Patchy changes of bone mineral density | HP_0010658 | |
| Ectopic ossification in ligament tissue | HP_0011989 | |
| Motor axonal neuropathy | HP_0007002 | |
| Peripheral axonal neuropathy | HP_0003477 | |
| Ectopic ossification in muscle tissue | HP_0011987 | |
| Loss of Purkinje cells in the cerebellar vermis | HP_0007001 | |
| Elevated creatine kinase after exercise | HP_0008331 | |
| Elevated circulating creatine kinase concentration | HP_0003236 | |
| Morning myoclonic jerks | HP_0007000 | |
| Reduced von Willebrand factor activity | HP_0008330 | |
| Patchy variation in bone mineral density | HP_0010659 | |
| Ivory epiphysis of the proximal phalanx of the thumb | HP_0009670 | |
| Abnormality of the epiphysis of the proximal phalanx of the thumb | HP_0009663 | |
| Ivory epiphysis of the thumb | HP_0009692 | |
| Cholesterol gallstones | HP_0011980 | |
| Short thumb | HP_0009778 | |
| Hypoplasia of the premaxilla | HP_0010650 |