eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hajdu cheney syndrome |
| Comorbidity | C0022408|arthropathy |
| Sentences | 2 |
| PubMedID- 23900523 | The 'vanishing bone' syndrome multicentric osteolysis with nodulosis and arthropathy (mona) is a rare chronic skeleton disorder caused by matrix metalloproteinase 2 (mmp2) deficiency, mimicking erosive polyarticular juvenile idiopathic arthritis. |
| PubMedID- 22917927 | We originally demonstrated that multicentric osteolyses with arthropathy (moa; mim 605156) is caused by mutations in the matrix metalloproteinase 2 gene (mmp2) (al aqeel et al., 2000; martignetti et al., 2001). |
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