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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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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
RGD:8554872
RGD:11554173

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  disease 14759
    syndrome 4210
      sea-blue histiocytosis 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            Metabolic Brain Diseases 439
              Metabolic Brain Diseases, Inborn 383
                Lysosomal Storage Diseases, Nervous System 71
                  sphingolipidosis 54
                    sea-blue histiocytosis 1
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