All terms in HP
| Label | Id | Description |
|---|---|---|
| Patchy sclerosis of thumb phalanx | HP_0009655 | |
| Synostosis of thumb phalanx | HP_0009635 | |
| Triangular shaped proximal phalanx of the thumb | HP_0009636 | |
| Triangular shaped thumb phalanx | HP_0009657 | |
| Absent proximal phalanx of thumb | HP_0009637 | |
| Short proximal phalanx of thumb | HP_0009638 | |
| Elevated leukocyte alkaline phosphatase | HP_0008318 | |
| Elevated circulating alkaline phosphatase concentration | HP_0003155 | |
| Abnormal mitochondria in muscle tissue | HP_0008316 | |
| Decreased plasma free carnitine | HP_0008315 | |
| Decreased plasma carnitine | HP_0003234 | |
| Elevated plasma citrulline | HP_0011966 | |
| Partial hyposmia | HP_0010635 | |
| Hyposmia | HP_0004409 | |
| Decreased activity of mitochondrial complex II | HP_0008314 | |
| Decreased activity of mitochondrial respiratory chain | HP_0008972 | |
| Decreased circulating copper concentration | HP_0011967 | |
| Abnormal circulating copper concentration | HP_0010836 | |
| Intermittent painful muscle spasms | HP_0011964 | |
| Partial anosmia | HP_0010633 |