All terms in HP
| Label | Id | Description |
|---|---|---|
| Peripheral vitreoretinal degeneration | HP_0200071 | |
| Peripheral retinal atrophy | HP_0200070 | |
| Respiratory insufficiency due to defective ciliary clearance | HP_0200073 | |
| Episodic quadriplegia | HP_0200072 | |
| Colorectal polyposis | HP_0200063 | |
| Ribbonlike corneal degeneration | HP_0200066 | |
| Corneal degeneration | HP_0007705 | |
| Nonprogressive visual loss | HP_0200068 | |
| Recurrent spontaneous abortion | HP_0200067 | |
| Hemihypotrophy of lower limb | HP_0200053 | |
| Hemiatrophy | HP_0100556 | |
| Small hand | HP_0200055 | |
| Aplasia/hypoplasia involving bones of the hand | HP_0005927 | |
| Foot monodactyly | HP_0200054 | |
| Marcus Gunn pupil | HP_0200057 | |
| Metastatic angiosarcoma | HP_0200059 | |
| Angiosarcoma | HP_0200058 | |
| Skin erosion | HP_0200041 | |
| Porokeratosis | HP_0200044 | |
| Upper limb hypertonia | HP_0200049 |