All terms in HP
| Label | Id | Description |
|---|---|---|
| fusiform | PATO_0002400 | [Having a spindle-like shape that is wide in the middle and tapers at both ends.] |
| Synostosis of second metacarpal-trapezoid | HP_0004293 | [Fusion of the second metacarpal-trapezoid.] |
| Carpometacarpal synostosis | HP_0100328 | [Fusion involving carpal and metacarpal bones.] |
| Undermodelled hand bones | HP_0004292 | |
| generalized | PATO_0002403 | [Affecting all regions without specificity of distribution.] |
| Acromicria | HP_0031878 | [Small hands and feet in proportion to the rest of the body.] |
| Delayed ossification of the trapezoid bone | HP_0004257 | [Formation of bone tissue of trapezoid is less than expected for age.] |
| Decreased hepcidin level | HP_0031876 | [An abnormally reduced concentration of hepcidin in the blood circulation.] |
| Abnormal hepcidin level | HP_0031875 | [Any deviation from the normal concentration of hepcidin in the blood circulation.] |
| Elevated hepcidin level | HP_0031877 | [An abnormally increased concentration of hepcidin in the blood circulation.] |
| Late chronotype | HP_0031874 | [A tendency towards rising very late in the morning and going to bed late at night.] |
| Small trapezoid bone | HP_0004258 | [Underdevelopment of the trapezoid.] |
| Absent trapezium | HP_0004253 | |
| Small trapezium | HP_0004255 | [Underdevelopment of the trapezium.] |
| Delayed ossification of the trapezium | HP_0004254 | [Formation of bone tissue of trapezium is less than expected for age.] |
| Lunate-triquetral fusion | HP_0004251 | [Osseous fusion of the lunate and triquetrum.] |
| Proximally placed lunate | HP_0004250 | |
| Proximally placed carpal bones | HP_0004239 | |
| Absent Birbeck granules in Langerhans cells | HP_0031872 | [Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.] |
| Abnormal Langerhans cell morphology | HP_0031871 | [Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.] |