All terms in HP
| Label | Id | Description |
|---|---|---|
| Absent humerus | HP_0003862 | |
| Aplasia/hypoplasia of the humerus | HP_0006507 | |
| Humeral cortical thinning | HP_0003869 | |
| Thin bony cortex | HP_0002753 | |
| Humeral cortical thickening | HP_0003868 | |
| Thickened cortex of long bones | HP_0000935 | |
| Cortical dysplasia | HP_0002539 | |
| Patchy demyelination of subcortical white matter | HP_0002545 | |
| CNS demyelination | HP_0007305 | |
| Osteoporotic humerus | HP_0003876 | |
| Retrocollis | HP_0002544 | |
| Torticollis | HP_0000473 | |
| Humeral lytic defects | HP_0003875 | |
| Camptodactyly of 2nd-5th fingers | HP_0001215 | |
| Camptodactyly of finger | HP_0100490 | |
| Periosteal new bone of humerus | HP_0003878 | |
| Incomprehensible speech | HP_0002546 | |
| Oval transradiancy of humerus | HP_0003877 | |
| Delayed ossification of carpal bones | HP_0001216 | |
| Abnormality of carpal bone ossification | HP_0006257 |