All terms in HP
| Label | Id | Description |
|---|---|---|
| Intranuclear cardiomyocyte mitochondria | HP_0031336 | |
| Capillary leak | HP_0030005 | |
| Perinuclear cardiomyocyte vacuolization | HP_0033997 | |
| Hyperkinetic status epilepticus | HP_0032666 | |
| Osteolysis of patellae | HP_0006378 | |
| Dumbbell-shaped femur | HP_0006375 | |
| Limited elbow flexion | HP_0006376 | |
| Diaphyseal cortical sclerosis | HP_0005045 | |
| Irregular, rachitic-like metaphyses | HP_0005042 | |
| Proximal humeral metaphyseal irregularity | HP_0005043 | |
| Broad long bone diaphyses | HP_0006371 | |
| Irregular capital femoral epiphysis | HP_0005041 | |
| Knee flexion contracture | HP_0006380 | |
| Rudimentary fibula | HP_0006381 | |
| Fibular hypoplasia | HP_0003038 | |
| Anterolateral radial head dislocation | HP_0005050 | |
| Dislocated radial head | HP_0003083 | |
| Microvillar PAS-positive secretory granules | HP_0033996 | |
| Repeated focal motor seizures | HP_0032665 | |
| Myocardial sarcomeric disarray | HP_0031333 |