All terms in HP
| Label | Id | Description |
|---|---|---|
| Osteolytic defect of the distal phalanx of the thumb | HP_0009645 | |
| Patchy sclerosis of the distal phalanx of the thumb | HP_0009646 | |
| Triangular shaped distal phalanx of the thumb | HP_0009648 | |
| Aplasia of the distal phalanx of the thumb | HP_0009649 | |
| Microscopic nephrocalcinosis | HP_0008327 | |
| Reduced circulating vitamin B6 level | HP_0008326 | |
| Abnormal circulating vitamin B6 level | HP_0032476 | |
| Elevated urinary homovanillic acid | HP_0011977 | |
| Cervical spine instability | HP_0010646 | |
| Elevated urinary vanillylmandelic acid | HP_0011978 | |
| Abnormal full-field electroretinogram | HP_0030466 | |
| Aminoglycoside-induced hearing loss | HP_0011975 | |
| Midnasal stenosis | HP_0010644 | |
| Abnormality of the midnasal cavity | HP_0010641 | |
| Reduced factor X activity | HP_0008321 | |
| Abnormality of the common coagulation pathway | HP_0010990 | |
| Impaired collagen-induced platelet aggregation | HP_0008320 | |
| Elevated urinary dopamine | HP_0011979 | |
| Dermal translucency | HP_0010648 | |
| Flat nasal alae | HP_0010649 |