All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal concentration of acylcarnitine in the urine | HP_0500170 | |
| Abnormal circulating gastrin concentration | HP_0500166 | |
| Hypergastrinemia | HP_0500167 | |
| Increased level of carnosine in blood | HP_0500161 | |
| Decreased level of carnosine in blood | HP_0500162 | |
| Hypoornithinemia | HP_0500163 | |
| Irregular distal femoral epiphysis | HP_0006407 | |
| Uncontrolled eye movements | HP_0007738 | |
| Distal tapering femur | HP_0006408 | |
| Bone spicule pigmentation of the retina | HP_0007737 | |
| Club-shaped proximal femur | HP_0006406 | |
| Enlarged lacrimal glands | HP_0007734 | |
| Laterally curved eyebrow | HP_0007733 | |
| Distal shortening of limbs | HP_0006402 | |
| Lacrimal gland hypoplasia | HP_0007732 | |
| Chorioretinal dysplasia | HP_0007731 | |
| Abnormal circulating amino sulfonic acid concentration | HP_0500180 | |
| Absent knee epiphyses | HP_0006400 | |
| Hypertaurinemia | HP_0500181 | |
| Hypotaurinemia | HP_0500182 |