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Term:sea-blue histiocytosis
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Accession:DOID:4423 term browser browse the term
Definition:A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.
Synonyms:exact_synonym: sea-blue histiocyte disease;   sea-blue histiocyte diseases;   sea-blue histiocyte syndrome;   sea-blue histiocyte syndromes;   sea-blue histiocytoses
 related_synonym: APOE2 Isoforms
 primary_id: MESH:D012618
 alt_id: OMIM:269600;   RDO:0006548
 xref: NCI:C85062
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sea-blue histiocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            Metabolic Brain Diseases 475
              Metabolic Brain Diseases, Inborn 409
                Lysosomal Storage Diseases, Nervous System 62
                  sphingolipidosis 46
                    sea-blue histiocytosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.