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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hemophagocytic lymphohistiocytosis
Comorbidity C0013903|ellis-van creveld syndrome
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PubMedID- 23924873 A novel mutation, ivs13+5g>a, in ellis-van creveld syndrome associated with haemophagocytic lymphohistiocytosis.

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