All terms in HP
| Label | Id | Description |
|---|---|---|
| Unusual CNS infection | HP_0011450 | |
| Nevus flammeus | HP_0001052 | |
| Capillary malformation | HP_0025104 | |
| Paraplegia/paraparesis | HP_0010551 | |
| Hypopigmented skin patches | HP_0001053 | |
| Chronic idiopathic urticaria | HP_0410133 | |
| Numerous nevi | HP_0001054 | |
| Focal impaired awareness seizure | HP_0002384 | |
| Dialeptic seizure | HP_0011146 | |
| Increased level of L-pyroglutamic acid in urine | HP_0410132 | |
| Increased urine proteinogenic amino acid derivative level | HP_0033097 | |
| Plethora | HP_0001050 | |
| Fasciculations | HP_0002380 | |
| Severe lactic acidosis | HP_0004900 | |
| Lactic acidosis | HP_0003128 | |
| Exercise-induced lactic acidemia | HP_0004901 | |
| Hypokalemic hypochloremic metabolic alkalosis | HP_0004909 | |
| Hypochloremic metabolic alkalosis | HP_0005977 | |
| Hypokalemic metabolic alkalosis | HP_0001960 | |
| Hypernatremic dehydration | HP_0004906 |