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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease familial hemophagocytic lymphohistiocytosis
Comorbidity C0026848|muscle disease
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PubMedID- 25274776 Mutations in fhl1 have been associated with diverse x-linked muscle diseases: scapuloperoneal (sp) myopathy, reducing body myopathy, x-linked myopathy with postural muscle atrophy, rigid spine syndrome (rss) and emery-dreifuss muscular dystrophy.

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