All terms in HP
| Label | Id | Description |
|---|---|---|
| Focal hemiclonic seizure | HP_0006813 | |
| Increased circulating beta-C-terminal telopeptide level | HP_0031425 | |
| Abnormal circulating beta-C-terminal telopeptide level | HP_0031424 | |
| Decreased circulating beta-C-terminal telopeptide level | HP_0031426 | |
| Focal impaired awareness non-motor seizure | HP_0032716 | |
| Abnormality of lower-limb metaphyses | HP_0006490 | |
| Focal impaired awareness autonomic seizure | HP_0032755 | |
| Small cerebellar cortex | HP_0031423 | |
| Abnormal cerebellar cortex morphology | HP_0031422 | |
| Hypoplastic left atrium | HP_0005156 | |
| Concentric hypertrophic cardiomyopathy | HP_0005157 | |
| Ventricular escape rhythm | HP_0005155 | |
| Histiocytoid cardiomyopathy | HP_0005152 | |
| Preductal coarctation of the aorta | HP_0005151 | |
| Increased CSF methionine concentration | HP_0500210 | |
| Abnormality of the tibial metaphysis | HP_0006491 | |
| Abnormal CSF threonine concentration | HP_0500211 | |
| Increased CSF threonine concentration | HP_0500212 | |
| Increased CSF aspartate concentration | HP_0500217 | |
| Abnormal CSF aspartate concentration | HP_0500216 |