All terms in HP
| Label | Id | Description |
|---|---|---|
| Mitochondrial lysine transport defect | HP_0008265 | |
| Neutrophil inclusion bodies | HP_0008264 | |
| Thyroid defect in oxidation and organification of iodide | HP_0008263 | |
| Transient aminoaciduria | HP_0008273 | |
| Occasional neurofibromas | HP_0009595 | |
| Renal tubular lysine transport defect | HP_0008272 | |
| Aplasia of the proximal phalanx of the 2nd finger | HP_0009596 | |
| Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger | HP_0009580 | |
| Abnormal cartilage collagen | HP_0008271 | |
| Short proximal phalanx of the 2nd finger | HP_0009597 | |
| Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal | HP_0009598 | |
| Synostosis involving the 2nd metacarpal | HP_0009705 | |
| Triceps hyperreflexia | HP_0033204 | |
| Brachioradialis hyperreflexia | HP_0033203 | |
| Brachioradialis hyporeflexia | HP_0033202 | |
| Biceps hyporeflexia | HP_0033201 | |
| Triceps hyporeflexia | HP_0033200 | |
| Visceral epithelial cell capping | HP_0033239 | |
| Podocyte hypertrophy | HP_0020133 | |
| Podocyte microvillous transformation | HP_0033238 |