All terms in HP
| Label | Id | Description |
|---|---|---|
| Blake's pouch cyst | HP_0033140 | |
| Intrahepatic bile duct dilatation | HP_0033149 | |
| Increased circulating isovaleric acid concentration | HP_0033148 | |
| Abnormal circulating short-chain fatty-acid concentration | HP_0033147 | |
| Elevated circulating methylsuccinic acid concentration | HP_0033146 | |
| Increased circulating ceruloplasmin concentration | HP_0033145 | |
| Abnormal circulating ceruloplasmin concentration | HP_0033144 | |
| Jejunitis | HP_0033143 | |
| Abnormal jejunum morphology | HP_0005265 | |
| Long nasal bridge | HP_0033142 | |
| Facial paralysis | HP_0007209 | |
| Irregular myelin loops | HP_0007208 | |
| Peripheral hypermyelination | HP_0030173 | |
| Photosensitive tonic-clonic seizure | HP_0007207 | |
| Cleft at the superior portion of the pinna | HP_0008537 | |
| Hemimegalencephaly | HP_0007206 | |
| Diffuse white matter abnormalities | HP_0007204 | |
| EEG with localized low amplitude activity | HP_0010855 | |
| EEG with periodic complexes | HP_0010856 | |
| EEG with periodic abnormalities | HP_0010857 |