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Sea-blue histiocyte syndrome

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Description

A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.

NCI

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

0

Genes

External Links

  • OMIM

    269600

  • Orphanet

    158029

  • HPO

    1454

  • Medgen

    C0036489

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