All terms in HP
| Label | Id | Description |
|---|---|---|
| Intestinal perforation | HP_0031368 | |
| Streaky metaphyseal sclerosis | HP_0005092 | |
| Lateral femoral bowing | HP_0005090 | |
| Abnormal cell proliferation | HP_0031377 | |
| Hypoglycosylation of alpha-dystroglycan | HP_0030046 | |
| Abnormal muscle fiber alpha dystroglycan | HP_0030112 | |
| Serpentine fibula | HP_0030045 | |
| Stiff tongue | HP_0031373 | |
| Incomplete ossification of pubis | HP_0030042 | |
| Ankle weakness | HP_0031374 | |
| Hip subluxation | HP_0030043 | |
| Rectal perforation | HP_0031371 | |
| Fused lumbar vertebrae | HP_0030040 | |
| Cold paresis | HP_0031372 | |
| Schmorl's node | HP_0030041 | |
| Fused thoracic vertebrae | HP_0030039 | |
| Bifid ureter | HP_0030037 | |
| Enchondroma | HP_0030038 | |
| Colon perforation | HP_0031369 | |
| Focal cognitive seizure with dysgraphia/agraphia | HP_0032699 |