eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyle disease |
| Comorbidity | C0410528|skeletal dysplasia |
| Sentences | 1 |
| PubMedID- 23239615 | The patient had severe growth retardation and general skeletal dysplasia compatible with spondylo-epi-metaphyseal dysplasia; however the mutation of discoidin domain receptor (ddr) 2 gene was absent. |
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