eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ellis van creveld syndrome |
| Comorbidity | C0024291|haemophagocytic lymphohistiocytosis |
| Sentences | 1 |
| PubMedID- 23924873 | A novel mutation, ivs13+5g>a, in ellis-van creveld syndrome associated with haemophagocytic lymphohistiocytosis. |
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